Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4022748
Disease: Focal T2 hyperintense brainstem lesion
Focal T2 hyperintense brainstem lesion 		0.100 Biomarker phenotype HPO
CUI: C4024609
Disease: Decreased activity of mitochondrial respiratory chain
Decreased activity of mitochondrial respiratory chain 		0.100 Biomarker phenotype HPO
CUI: C4024926
Disease: Focal T2 hyperintense basal ganglia lesion
Focal T2 hyperintense basal ganglia lesion 		0.100 Biomarker phenotype HPO
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		0.100 Biomarker phenotype HPO
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: C0275524
Disease: Coinfection
Coinfection 		0.010 Biomarker phenotype BEFREE Of these people, 7326 had T gondii co-infection and we estimated the pooled worldwide prevalence of T gondii infection to be 35·8% (95% CI 30·8-40·7). 28159548 2017
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.640 Biomarker disease CLINGEN Regulation of Mitochondrial Complex I Biogenesis in Drosophila Flight Muscles. 28683319 2017
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.640 Biomarker disease 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
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.640 Biomarker disease CLINGEN Progressive loss of dopaminergic neurons in the ventral midbrain of adult mice heterozygote for Engrailed1. 17267560 2007
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.640 Biomarker disease BEFREE Human mitochondrial NDUFS3 protein bearing Leigh syndrome mutation is more prone to aggregation than its wild-type. 24028823 2013
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.640 GeneticVariation disease BEFREE Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. 14729820 2004
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 GeneticVariation disease BEFREE 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
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.640 Biomarker disease CLINGEN Granzyme A cleaves a mitochondrial complex I protein to initiate caspase-independent cell death. 18485875 2008
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.640 GeneticVariation disease BEFREE Correction: A novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome. 30266949 2018
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.640 Biomarker disease CLINGEN cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed. 9878551 1998
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: C0023264
Disease: Leigh Disease
Leigh Disease 		0.640 Biomarker disease CLINGEN Mitochondrial NDUFS3 regulates the ROS-mediated onset of metabolic switch in transformed cells. 23519235 2013
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.640 Biomarker disease CLINGEN Early complex I assembly defects result in rapid turnover of the ND1 subunit. 22653752 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
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.640 Biomarker disease GENOMICS_ENGLAND Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defects. 19167255 2009
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.640 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: 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 GermlineCausalMutation disease ORPHANET Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. 22499348 2012
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.600 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016