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 The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patients. 7668285 1995
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		0.100 CausalMutation 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 CausalMutation disease CLINVAR Canavan disease: mutations among Jewish and non-Jewish patients. 8023850 1994
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		0.100 CausalMutation disease CLINVAR The frequency of the C854 mutation in the aspartoacylase gene in Ashkenazi Jews in Israel. 8037206 1994
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		0.100 CausalMutation disease CLINVAR Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease. 8252036 1993
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 CausalMutation 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 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 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 CausalMutation 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 CausalMutation 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 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 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 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 Possible genotype-phenotype correlations in children with mild clinical course of Canavan disease. 16138249 2005
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		0.100 CausalMutation disease CLINVAR Atypical MRI findings in Canavan disease: a patient with a mild course. 16217711 2005
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		0.100 CausalMutation 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 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 analysis of the aspartoacylase gene in non-Jewish patients with Canavan disease. 16802711 2006
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		0.100 CausalMutation disease CLINVAR Rapid detection of three large novel deletions of the aspartoacylase gene in non-Jewish patients with Canavan disease. 16854607 2006
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		0.100 GeneticVariation disease CLINVAR Rapid detection of three large novel deletions of the aspartoacylase gene in non-Jewish patients with Canavan disease. 16854607 2006
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 Structure of aspartoacylase, the brain enzyme impaired in Canavan disease. 17194761 2007
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 Novel mutation of aspartoacylase gene in a Turkish patient with Canavan disease. 17999961 2008