Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4748766
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 		0.600 GeneticVariation disease CLINVAR Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. 14729820 2004
CUI: C4748766
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 		0.600 GeneticVariation disease UNIPROT Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. 14729820 2004
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.600 GeneticVariation disease CLINVAR
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C4748766
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 		0.600 CausalMutation disease CLINVAR
CUI: C4748766
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.500 Biomarker disease CLINGEN A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome. 30140060 2018
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.500 Biomarker disease CLINGEN Regulation of Mitochondrial Complex I Biogenesis in Drosophila Flight Muscles. 28683319 2017
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.500 Biomarker disease CLINGEN Mitochondrial NDUFS3 regulates the ROS-mediated onset of metabolic switch in transformed cells. 23519235 2013
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.500 Biomarker disease CLINGEN Early complex I assembly defects result in rapid turnover of the ND1 subunit. 22653752 2012
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		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
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.500 Biomarker disease CLINGEN Subunits of mitochondrial complex I exist as part of matrix- and membrane-associated subcomplexes in living cells. 18826940 2008
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.500 Biomarker disease CLINGEN Granzyme A cleaves a mitochondrial complex I protein to initiate caspase-independent cell death. 18485875 2008
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.500 Biomarker disease CLINGEN Progressive loss of dopaminergic neurons in the ventral midbrain of adult mice heterozygote for Engrailed1. 17267560 2007
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.500 Biomarker disease CLINGEN Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. 14729820 2004
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.500 Biomarker disease CLINGEN cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed. 9878551 1998
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.500 Biomarker disease GENOMICS_ENGLAND
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.400 Biomarker disease CTD_human Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. 14729820 2004
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.400 Biomarker disease HPO
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.310 Biomarker disease BEFREE We also observed that the expressions of GRIM-19, NDUFS3, and ECM elements were correlated with invasive capabilities of breast cancer cell lines. 23630608 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.310 Biomarker disease BEFREE We also observed that the expressions of GRIM-19, NDUFS3, and ECM elements were correlated with invasive capabilities of breast cancer cell lines. 23630608 2013
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.310 Biomarker disease CTD_human An integrative approach to identify YB-1-interacting proteins required for cisplatin resistance in MCF7 and MDA-MB-231 breast cancer cells. 21466612 2011
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.310 Biomarker disease CTD_human An integrative approach to identify YB-1-interacting proteins required for cisplatin resistance in MCF7 and MDA-MB-231 breast cancer cells. 21466612 2011
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker disease CLINGEN A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome. 30140060 2018
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		0.300 Biomarker disease CLINGEN A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome. 30140060 2018