Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
0.520 GeneticVariation group BEFREE Mitochondrial Disease Caused by a Novel Homozygous Mutation (Gly106del) in the SCO1 Gene. 31352446 2019
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
0.520 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
0.520 Biomarker group BEFREE Unexpected vascular enrichment of SCO1 over SCO2 in mammalian tissues: implications for human mitochondrial disease. 20864674 2010
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
0.520 Biomarker group CTD_human Human Sco1 functional studies and pathological implications of the P174L mutant. 17182746 2007
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
0.520 Biomarker group GENOMICS_ENGLAND