Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
0.330 GeneticVariation group BEFREE Mice lacking the mitochondrial complex I (CI) subunit Ndufs4 ( Ndufs4<sup>-/-</sup>) develop a fatal progressive encephalopathy and serve as a model for Leigh syndrome, the most common mitochondrial disease in children. 30520688 2019
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
0.330 Biomarker group BEFREE By knocking down ND-18, the unique <i>Drosophila</i> ortholog of NDUFS4, an accessory subunit of the NADH:ubiquinone oxidoreductase (Complex I), we developed and characterized several dNDUFS4 models that recapitulate key features of mitochondrial disease. 29590638 2018
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
0.330 GeneticVariation group BEFREE One promising candidate for treatment is the drug rapamycin, which has been shown to extend lifespan in multiple animal models, and which was previously shown to ameliorate mitochondrial disease in a knock-out mouse model lacking a nuclear-encoded gene specifying an OxPhos structural subunit (Ndufs4). 28973153 2017
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
0.330 Biomarker group GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
0.330 Biomarker group GENOMICS_ENGLAND