ASPA, aspartoacylase, 443

N. diseases: 123; N. variants: 65
Disease: Canavan Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555538148
rs1555538148
Entrez Id: 443;84690
Gene Symbol: ASPA;SPATA22
ASPA;SPATA22
CUI: C0206307
Disease:
Canavan Disease 		0.700 GeneticVariation UNIPROT Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity. 28101991 2017
dbSNP: rs1555538148
rs1555538148
Entrez Id: 443;84690
Gene Symbol: ASPA;SPATA22
ASPA;SPATA22
CUI: C0206307
Disease:
Canavan Disease 		0.700 GeneticVariation UNIPROT New T530C mutation in the aspartoacylase gene caused Canavan disease with no correlation between severity and N-acetylaspartate excretion. 24036223 2013
dbSNP: rs1555538148
rs1555538148
Entrez Id: 443;84690
Gene Symbol: ASPA;SPATA22
ASPA;SPATA22
CUI: C0206307
Disease:
Canavan Disease 		0.700 GeneticVariation UNIPROT ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 19888064 2009
dbSNP: rs1555538148
rs1555538148
Entrez Id: 443;84690
Gene Symbol: ASPA;SPATA22
ASPA;SPATA22
CUI: C0206307
Disease:
Canavan Disease 		0.700 GeneticVariation UNIPROT Carrier screening in individuals of Ashkenazi Jewish descent. 18197057 2008
dbSNP: rs1555538148
rs1555538148
Entrez Id: 443;84690
Gene Symbol: ASPA;SPATA22
ASPA;SPATA22
CUI: C0206307
Disease:
Canavan Disease 		0.700 GeneticVariation UNIPROT Purification and preliminary characterization of brain aspartoacylase. 12706335 2003
dbSNP: rs1555538148
rs1555538148
Entrez Id: 443;84690
Gene Symbol: ASPA;SPATA22
ASPA;SPATA22
CUI: C0206307
Disease:
Canavan Disease 		0.700 GeneticVariation UNIPROT Two novel aspartoacylase gene (ASPA) missense mutations specific to Norwegian and Swedish patients with Canavan disease. 12205125 2002
dbSNP: rs1555538148
rs1555538148
Entrez Id: 443;84690
Gene Symbol: ASPA;SPATA22
ASPA;SPATA22
CUI: C0206307
Disease:
Canavan Disease 		0.700 GeneticVariation UNIPROT Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease. 12638939 2002
dbSNP: rs1555538148
rs1555538148
Entrez Id: 443;84690
Gene Symbol: ASPA;SPATA22
ASPA;SPATA22
CUI: C0206307
Disease:
Canavan Disease 		0.700 GeneticVariation UNIPROT Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population. 10909858 2000
dbSNP: rs1555538148
rs1555538148
Entrez Id: 443;84690
Gene Symbol: ASPA;SPATA22
ASPA;SPATA22
CUI: C0206307
Disease:
Canavan Disease 		0.700 GeneticVariation UNIPROT The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients. 10407784 1999
dbSNP: rs1555538148
rs1555538148
Entrez Id: 443;84690
Gene Symbol: ASPA;SPATA22
ASPA;SPATA22
CUI: C0206307
Disease:
Canavan Disease 		0.700 GeneticVariation UNIPROT Novel missense mutation (Y231C) in a turkish patient with canavan disease. 10564886 1999
dbSNP: rs1555538148
rs1555538148
Entrez Id: 443;84690
Gene Symbol: ASPA;SPATA22
ASPA;SPATA22
CUI: C0206307
Disease:
Canavan Disease 		0.700 GeneticVariation UNIPROT Missense mutation (I143T) in a Japanese patient with Canavan disease. 9452117 1998
dbSNP: rs1555538148
rs1555538148
Entrez Id: 443;84690
Gene Symbol: ASPA;SPATA22
ASPA;SPATA22
CUI: C0206307
Disease:
Canavan Disease 		0.700 GeneticVariation UNIPROT Identification and expression of eight novel mutations among non-Jewish patients with Canavan disease. 8659549 1996
dbSNP: rs1555538148
rs1555538148
Entrez Id: 443;84690
Gene Symbol: ASPA;SPATA22
ASPA;SPATA22
CUI: C0206307
Disease:
Canavan Disease 		0.700 GeneticVariation UNIPROT Novel (cys152 > arg) missense mutation in an Arab patient with Canavan disease. 7599639 1995
dbSNP: rs1555538148
rs1555538148
Entrez Id: 443;84690
Gene Symbol: ASPA;SPATA22
ASPA;SPATA22
CUI: C0206307
Disease:
Canavan Disease 		0.700 GeneticVariation UNIPROT The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patients. 7668285 1995
dbSNP: rs1555538148
rs1555538148
Entrez Id: 443;84690
Gene Symbol: ASPA;SPATA22
ASPA;SPATA22
CUI: C0206307
Disease:
Canavan Disease 		0.700 GeneticVariation UNIPROT Canavan disease: mutations among Jewish and non-Jewish patients. 8023850 1994
dbSNP: rs1555538148
rs1555538148
Entrez Id: 443;84690
Gene Symbol: ASPA;SPATA22
ASPA;SPATA22
CUI: C0206307
Disease:
Canavan Disease 		0.700 GeneticVariation UNIPROT Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease. 8252036 1993