SPATA22, spermatogenesis associated 22, 84690

N. diseases: 6; N. variants: 65
Disease: Canavan Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		0.100 CausalMutation disease CLINVAR Cytotoxic edema and diffusion restriction as an early pathoradiologic marker in canavan disease: case report and review of the literature. 27927234 2016
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		0.100 CausalMutation disease CLINVAR Atypical clinical and radiological course of a patient with Canavan disease. 26586007 2016
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		0.100 GeneticVariation disease CLINVAR Atypical clinical and radiological course of a patient with Canavan disease. 26586007 2016
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		0.100 CausalMutation disease CLINVAR Canavan disease - unusual imaging features in a child with mild clinical presentation. 25107638 2015
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		0.100 GeneticVariation disease CLINVAR Canavan disease - unusual imaging features in a child with mild clinical presentation. 25107638 2015
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		0.100 CausalMutation disease CLINVAR Aspartoacylase catalytic deficiency as the cause of Canavan disease: a structural perspective. 25003821 2014
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		0.100 GeneticVariation disease CLINVAR Abstracts of ICIEM 2013, the 12th International Congress of Inborn Errors of Metabolism. Barcelona, Spain. September 3-6, 2013. 23971085 2013
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		0.100 GeneticVariation disease CLINVAR Relationship between enzyme properties and disease progression in Canavan disease. 22850825 2013
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		0.100 GeneticVariation disease 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
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		0.100 CausalMutation disease CLINVAR Relationship between enzyme properties and disease progression in Canavan disease. 22850825 2013
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		0.100 GeneticVariation disease CLINVAR A mutation of aspartoacylase gene in a Turkish patient with Canavan disease. 22611636 2012
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		0.100 GeneticVariation disease CLINVAR Expression of aspartoacylase (ASPA) and Canavan disease. 22750302 2012
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		0.100 CausalMutation disease CLINVAR Computational analysis of deleterious missense mutations in aspartoacylase that cause Canavan's disease. 23233226 2012
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		0.100 CausalMutation disease CLINVAR Expression of aspartoacylase (ASPA) and Canavan disease. 22750302 2012
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		0.100 GeneticVariation disease CLINVAR Long-term follow-up after gene therapy for canavan disease. 23253610 2012
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		0.100 GeneticVariation disease CLINVAR Computational analysis of deleterious missense mutations in aspartoacylase that cause Canavan's disease. 23233226 2012
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		0.100 GeneticVariation disease CLINVAR A missense mutation (p.G274R) in gene ASPA causes Canavan disease in a Pakistani family. 22219087 2012
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		0.100 GeneticVariation disease CLINVAR Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation. 22019069 2011
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		0.100 CausalMutation disease CLINVAR Carrier testing for severe childhood recessive diseases by next-generation sequencing. 21228398 2011
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		0.100 GeneticVariation disease CLINVAR Canavan disease: a novel mutation. 21907889 2011
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		0.100 GeneticVariation disease CLINVAR Two novel missense mutations in the aspartoacylase gene in a Chinese patient with congenital Canavan disease. 20129749 2010
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		0.100 GeneticVariation disease 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
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		0.100 GeneticVariation disease CLINVAR Homozygosity for mutation G212A of the gene for aspartoacylase is associated with atypical form of Canavan's disease. 18070137 2008
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		0.100 GeneticVariation disease CLINVAR Genome-wide gene expression profiling and mutation analysis of Saudi patients with Canavan disease. 18978679 2008
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		0.100 CausalMutation disease CLINVAR Homozygosity for mutation G212A of the gene for aspartoacylase is associated with atypical form of Canavan's disease. 18070137 2008