Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
0.300 Biomarker disease CLINGEN Structure of mammalian respiratory complex I. 27509854 2016
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
0.300 Biomarker disease CLINGEN Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome. 26008862 2015