Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
0.310 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
0.310 GeneticVariation group BEFREE Our results indicate that CIA30 is a crucial component in the early assembly of complex I and mutations in its gene can cause mitochondrial disease. 17557076 2007
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
0.310 GeneticVariation group LHGDN Our results indicate that CIA30 is a crucial component in the early assembly of complex I and mutations in its gene can cause mitochondrial disease. 17557076 2007
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
0.310 Biomarker group GENOMICS_ENGLAND