ECHS1, enoyl-CoA hydratase, short chain 1, 1892

N. diseases: 93; N. variants: 26
Disease: Encephalopathy, Subacute Necrotizing, Juvenile ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751268
Disease: Encephalopathy, Subacute Necrotizing, Juvenile
Encephalopathy, Subacute Necrotizing, Juvenile 		0.300 Biomarker disease CTD_human Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome. 26099313 2015
CUI: C0751268
Disease: Encephalopathy, Subacute Necrotizing, Juvenile
Encephalopathy, Subacute Necrotizing, Juvenile 		0.300 Biomarker disease CTD_human ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism. 25125611 2014