Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Necrotizing encephalopathy, infantile subacute, of Leigh
0.300 Biomarker disease CLINGEN Structure of mammalian respiratory complex I. 27509854 2016
Necrotizing encephalopathy, infantile subacute, of Leigh
0.300 Biomarker disease CLINGEN Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome. 26008862 2015