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: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker CLINGEN A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome. 30140060

2018
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker CLINGEN Regulation of Mitochondrial Complex I Biogenesis in Drosophila Flight Muscles. 28683319

2017
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 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: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 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: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 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: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 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: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 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: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 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: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker CLINGEN Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. 14729820

2004
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker CLINGEN cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed. 9878551

1998