Source: ANIMAL_MODELS

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 443
Gene Symbol: ASPA
ASPA
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		1.000 Biomarker MGD Canavan disease (CD) is a severe, lethal leukodystrophy caused by deficiency in aspartoacylase (ASPA), which hydrolyzes N-acetylaspartate (NAA). 26511242

2015
Entrez Id: 443
Gene Symbol: ASPA
ASPA
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		1.000 Biomarker MGD Canavan disease is a leukodystrophy caused by mutations in the ASPA gene. 24682784

2014
Entrez Id: 443
Gene Symbol: ASPA
ASPA
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		1.000 Biomarker MGD Homozygous (aspa(lacZ/lacZ)) mutants are ASPA-deficient, show CD-like histopathology and moderate neurological impairment with behavioural deficits that are more pronounced in aspa(lacZ/lacZ) males than females. 21625469

2011
Entrez Id: 443
Gene Symbol: ASPA
ASPA
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		1.000 Biomarker MGD Nur7 is a nonsense mutation in the mouse aspartoacylase gene that causes spongy degeneration of the CNS. 18987190

2008
Entrez Id: 443
Gene Symbol: ASPA
ASPA
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		1.000 Biomarker RGD This study provides evidence that AAV-2-mediated aspartoacylase gene transfer to the brain improves biochemical and behavioral deficits in tremor rat mutants (tm/tm) and supports the rationale of human gene transfer for Canavan disease. 15857674

2005
Entrez Id: 443
Gene Symbol: ASPA
ASPA
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		1.000 Biomarker MGD Functional genetic analysis of mouse chromosome 11. 12955145

2003
Entrez Id: 443
Gene Symbol: ASPA
ASPA
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		1.000 Biomarker MGD Metabolic changes in the knockout mouse for Canavan's disease: implications for patients with Canavan's disease. 14572139

2003
Entrez Id: 443
Gene Symbol: ASPA
ASPA
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		1.000 Biomarker MGD The newly created ASPA deficient mouse establishes an important animal model of Canavan disease. 10894262

2000