ASPA, aspartoacylase, 443

N. diseases: 123; N. variants: 65
Disease: Canavan Disease, Juvenile ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751667
Disease: Canavan Disease, Juvenile
Canavan Disease, Juvenile 		0.500 GermlineCausalMutation disease ORPHANET Aspartoacylase-lacZ knockin mice: an engineered model of Canavan disease. 21625469 2011
CUI: C0751667
Disease: Canavan Disease, Juvenile
Canavan Disease, Juvenile 		0.500 Biomarker disease CTD_human Structure of aspartoacylase, the brain enzyme impaired in Canavan disease. 17194761 2007
CUI: C0751667
Disease: Canavan Disease, Juvenile
Canavan Disease, Juvenile 		0.500 Biomarker disease CTD_human Identification of the zinc binding ligands and the catalytic residue in human aspartoacylase, an enzyme involved in Canavan disease. 17027983 2006