Source: CLINVAR

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 CausalMutation CLINVAR Atypical clinical and radiological course of a patient with Canavan disease. 26586007

2016
Entrez Id: 443
Gene Symbol: ASPA
ASPA
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		1.000 GeneticVariation CLINVAR Atypical clinical and radiological course of a patient with Canavan disease. 26586007

2016
Entrez Id: 443
Gene Symbol: ASPA
ASPA
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		1.000 CausalMutation CLINVAR Cytotoxic edema and diffusion restriction as an early pathoradiologic marker in canavan disease: case report and review of the literature. 27927234

2016
Entrez Id: 443
Gene Symbol: ASPA
ASPA
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		1.000 GeneticVariation CLINVAR Canavan disease - unusual imaging features in a child with mild clinical presentation. 25107638

2015
Entrez Id: 443
Gene Symbol: ASPA
ASPA
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		1.000 CausalMutation CLINVAR Canavan disease - unusual imaging features in a child with mild clinical presentation. 25107638

2015
Entrez Id: 443
Gene Symbol: ASPA
ASPA
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		1.000 CausalMutation CLINVAR Aspartoacylase catalytic deficiency as the cause of Canavan disease: a structural perspective. 25003821

2014
Entrez Id: 443
Gene Symbol: ASPA
ASPA
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		1.000 GeneticVariation CLINVAR Relationship between enzyme properties and disease progression in Canavan disease. 22850825

2013
Entrez Id: 443
Gene Symbol: ASPA
ASPA
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		1.000 GeneticVariation CLINVAR Molecular characterisation and prenatal diagnosis of Asparto-acylase deficiency (Canavan disease)--report of two novel and two known mutations from the Indian subcontinent. 22878930

2013
Entrez Id: 443
Gene Symbol: ASPA
ASPA
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		1.000 CausalMutation CLINVAR Relationship between enzyme properties and disease progression in Canavan disease. 22850825

2013
Entrez Id: 443
Gene Symbol: ASPA
ASPA
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		1.000 GeneticVariation CLINVAR Abstracts of ICIEM 2013, the 12th International Congress of Inborn Errors of Metabolism. Barcelona, Spain. September 3-6, 2013. 23971085

2013
Entrez Id: 443
Gene Symbol: ASPA
ASPA
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		1.000 GeneticVariation CLINVAR Expression of aspartoacylase (ASPA) and Canavan disease. 22750302

2012
Entrez Id: 443
Gene Symbol: ASPA
ASPA
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		1.000 GeneticVariation CLINVAR A missense mutation (p.G274R) in gene ASPA causes Canavan disease in a Pakistani family. 22219087

2012
Entrez Id: 443
Gene Symbol: ASPA
ASPA
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		1.000 GeneticVariation CLINVAR Computational analysis of deleterious missense mutations in aspartoacylase that cause Canavan's disease. 23233226

2012
Entrez Id: 443
Gene Symbol: ASPA
ASPA
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		1.000 GeneticVariation CLINVAR Long-term follow-up after gene therapy for canavan disease. 23253610

2012
Entrez Id: 443
Gene Symbol: ASPA
ASPA
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		1.000 CausalMutation CLINVAR Expression of aspartoacylase (ASPA) and Canavan disease. 22750302

2012
Entrez Id: 443
Gene Symbol: ASPA
ASPA
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		1.000 GeneticVariation CLINVAR A mutation of aspartoacylase gene in a Turkish patient with Canavan disease. 22611636

2012
Entrez Id: 443
Gene Symbol: ASPA
ASPA
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		1.000 CausalMutation CLINVAR Computational analysis of deleterious missense mutations in aspartoacylase that cause Canavan's disease. 23233226

2012
Entrez Id: 443
Gene Symbol: ASPA
ASPA
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		1.000 GeneticVariation CLINVAR Canavan disease: a novel mutation. 21907889

2011
Entrez Id: 443
Gene Symbol: ASPA
ASPA
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		1.000 GeneticVariation CLINVAR Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation. 22019069

2011
Entrez Id: 443
Gene Symbol: ASPA
ASPA
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		1.000 CausalMutation CLINVAR Carrier testing for severe childhood recessive diseases by next-generation sequencing. 21228398

2011
Entrez Id: 443
Gene Symbol: ASPA
ASPA
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		1.000 GeneticVariation CLINVAR Two novel missense mutations in the aspartoacylase gene in a Chinese patient with congenital Canavan disease. 20129749

2010
Entrez Id: 443
Gene Symbol: ASPA
ASPA
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		1.000 GeneticVariation CLINVAR Glyceryl triacetate for Canavan disease: a low-dose trial in infants and evaluation of a higher dose for toxicity in the tremor rat model. 19685155

2009
Entrez Id: 443
Gene Symbol: ASPA
ASPA
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		1.000 GeneticVariation CLINVAR Homozygosity for mutation G212A of the gene for aspartoacylase is associated with atypical form of Canavan's disease. 18070137

2008
Entrez Id: 443
Gene Symbol: ASPA
ASPA
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		1.000 CausalMutation CLINVAR Genome-wide gene expression profiling and mutation analysis of Saudi patients with Canavan disease. 18978679

2008
Entrez Id: 443
Gene Symbol: ASPA
ASPA
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		1.000 CausalMutation CLINVAR Homozygosity for mutation G212A of the gene for aspartoacylase is associated with atypical form of Canavan's disease. 18070137

2008