Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.640 Biomarker CLINGEN In conclusion, we identified a novel Leigh syndrome causing NDUFS3 mutation and expanded the clinical spectrum caused by NDUFS3 mutations in this study. 30140060

2018
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.640 Biomarker CLINGEN Regulation of Mitochondrial Complex I Biogenesis in Drosophila Flight Muscles. 28683319

2017
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.640 Biomarker CLINGEN Mitochondrial NDUFS3 regulates the ROS-mediated onset of metabolic switch in transformed cells. 23519235

2013
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.640 Biomarker CLINGEN Early complex I assembly defects result in rapid turnover of the ND1 subunit. 22653752

2012
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.640 Biomarker 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
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.640 Biomarker CLINGEN Granzyme A cleaves a mitochondrial complex I protein to initiate caspase-independent cell death. 18485875

2008
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.640 Biomarker 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
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.640 Biomarker 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
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.640 Biomarker CLINGEN While mutations in the NDUFS3 gene thus result in Leigh syndrome, a dissimilar clinical phenotype is observed in mutations in the NDUFV2 and NDUFS2 genes, resulting in encephalomyopathy and cardiomyopathy. 14729820

2004
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.640 Biomarker CLINGEN cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed. 9878551

1998