Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.310 Biomarker disease CLINGEN Structure of mammalian respiratory complex I. 27509854 2016
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.310 GeneticVariation disease BEFREE Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome. 26008862 2015
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.310 Biomarker disease CLINGEN Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome. 26008862 2015