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 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 The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patients. 7668285 1995
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 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 Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation. 22019069 2011
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 Mutational analysis of aspartoacylase: implications for Canavan disease. 17391648 2007
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		0.100 GeneticVariation disease CLINVAR Two novel aspartoacylase gene (ASPA) missense mutations specific to Norwegian and Swedish patients with Canavan disease. 12205125 2002
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		0.100 GeneticVariation disease CLINVAR Identification and expression of eight novel mutations among non-Jewish patients with Canavan disease. 8659549 1996
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 GeneticVariation disease CLINVAR Identification of the zinc binding ligands and the catalytic residue in human aspartoacylase, an enzyme involved in Canavan disease. 17027983 2006
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		0.100 GeneticVariation disease CLINVAR Novel splice site mutation of aspartoacylase gene in a Turkish patient with Canavan disease. 10701101 2000
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		0.100 GeneticVariation disease CLINVAR Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease. 12638939 2002
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		0.100 GeneticVariation disease CLINVAR The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients. 10407784 1999
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 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 Novel mutation of aspartoacylase gene in a Turkish patient with Canavan disease. 17999961 2008
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 GeneticVariation disease CLINVAR Mutation analysis of the aspartoacylase gene in non-Jewish patients with Canavan disease. 16802711 2006
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 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 GeneticVariation disease CLINVAR Possible genotype-phenotype correlations in children with mild clinical course of Canavan disease. 16138249 2005
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		0.100 GeneticVariation disease CLINVAR Mild-onset presentation of Canavan's disease associated with novel G212A point mutation in aspartoacylase gene. 16437572 2006
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		0.100 GeneticVariation disease CLINVAR Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population. 10909858 2000
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