Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.640 Biomarker disease 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
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.640 Biomarker disease CTD_human 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
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: C0030193
Disease: Pain
Pain
0.010 Biomarker phenotype BEFREE Visual analog scale scores highlighted a decrease in pain in the active TENS group compared with the placebo group (entry: -11 mm, 95% confidence interval [CI] -17 to -5; contact: -21.9 mm, 95% CI -30 to -13.9; biopsy: -30.5 mm, 95% CI -47.1 to -13.8, P<.001). 28079781 2017
CUI: C0403823
Disease: Asthenozoospermia
Asthenozoospermia
0.010 AlteredExpression disease BEFREE These results suggest that the impaired mitochondrial activity could be due to the broken interaction between DJ-1 and NDUFS3 and that downregulation of DJ-1 in sperm and testes contributes to AS pathogenesis. 29849492 2018
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.010 AlteredExpression disease LHGDN The protein levels of complex I 30-kDa subunit were significantly decreased in cerebral cortex of fetal DS brain. 11771736 2001
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
0.110 GeneticVariation phenotype BEFREE The meta-analyses did not confirm or exclude a beneficial or detrimental effect of low-dose VKA compared to no VKA on mortality (RR 0.99, 95% CI 0.64 to 1.55; RD 1 fewer per 1000, 95% CI 34 fewer to 52 more; low-certainty evidence), symptomatic catheter-related VTE (RR 0.61, 95% CI 0.23 to 1.64; RD 31 fewer per 1000, 95% CI 62 fewer to 51 more; low-certainty evidence), major bleeding (RR 7.14, 95% CI 0.88 to 57.78; RD 12 more per 1000, 95% CI 0 fewer to 110 more; low-certainty evidence), minor bleeding (RR 0.69, 95% CI 0.38 to 1.26; RD 15 fewer per 1000, 95% CI 30 fewer to 13 more; low-certainty evidence), premature catheter removal (RR 0.82, 95% CI 0.30 to 2.24; RD 29 fewer per 1000, 95% CI 114 fewer to 202 more; low-certainty evidence), and catheter-related infection (RR 1.17, 95% CI 0.74 to 1.85; RD 71 more per 1000, 95% CI 109 fewer to 356; low-certainty evidence).LMWH versus VKAThree RCTs (641 participants) compared LMWH to VKA in adults. 29856471 2018
CUI: C0018133
Disease: Graft-vs-Host Disease
Graft-vs-Host Disease
0.010 GeneticVariation disease BEFREE The incidences of grades II-IV acute graft-versus-host disease (GVHD) and chronic GVHD were 34 (95% CI 30-37%) and 51 (95% CI 46-56%), respectively. 29713245 2018
CUI: C0856825
Disease: Acute GVH disease
Acute GVH disease
0.010 GeneticVariation disease BEFREE The incidences of grades II-IV acute graft-versus-host disease (GVHD) and chronic GVHD were 34 (95% CI 30-37%) and 51 (95% CI 46-56%), respectively. 29713245 2018
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
0.010 Biomarker disease BEFREE The incidence rate of the MetS in early adulthood was 111·6 (95 % CI 98·7, 126·3) per 10 000 person-years, with higher values in boys (210·1 (95 % CI 183·0, 241·3)), compared with girls (39·7 (95 % CI 30·2, 52·1)). 31506131 2019
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
0.200 Biomarker disease RGD The expressions of NDUFS3 and TGF-β1 in DN rats were increased. 22903132 2012
Non-ST Elevated Myocardial Infarction
0.010 Biomarker disease BEFREE The average proportion of OCA in NSTEMI was 34% (95% CI 30-37%). 29422071 2018
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
0.200 Therapeutic disease RGD Telmisartan improves kidney function through inhibition of the oxidative phosphorylation pathway in diabetic rats. 22591908 2012
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.640 Biomarker disease CLINGEN Subunits of mitochondrial complex I exist as part of matrix- and membrane-associated subcomplexes in living cells. 18826940 2008
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
Leigh Syndrome Due To Mitochondrial Complex II 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
Leigh Syndrome due to Mitochondrial Complex III 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
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
Leigh Syndrome due to Mitochondrial Complex V 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
Necrotizing encephalopathy, infantile subacute, of Leigh
0.300 Biomarker disease CLINGEN Subunits of mitochondrial complex I exist as part of matrix- and membrane-associated subcomplexes in living cells. 18826940 2008
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.640 Biomarker disease CLINGEN Regulation of Mitochondrial Complex I Biogenesis in Drosophila Flight Muscles. 28683319 2017
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
Leigh Syndrome Due To Mitochondrial Complex II Deficiency
0.300 Biomarker disease CLINGEN Regulation of Mitochondrial Complex I Biogenesis in Drosophila Flight Muscles. 28683319 2017
Leigh Syndrome due to Mitochondrial Complex III Deficiency
0.300 Biomarker disease CLINGEN Regulation of Mitochondrial Complex I Biogenesis in Drosophila Flight Muscles. 28683319 2017