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: rs12948217
rs12948217
Entrez Id: 443;84690
Gene Symbol: ASPA;SPATA22
ASPA;SPATA22
CUI: C0206307
Disease:
Canavan Disease 		A 0.700 CausalMutation CLINVAR Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population. 10909858 2000
dbSNP: rs12948217
rs12948217
Entrez Id: 443;84690
Gene Symbol: ASPA;SPATA22
ASPA;SPATA22
CUI: C0206307
Disease:
Canavan Disease 		A 0.700 CausalMutation CLINVAR Identification and expression of eight novel mutations among non-Jewish patients with Canavan disease. 8659549 1996
dbSNP: rs12948217
rs12948217
Entrez Id: 443;84690
Gene Symbol: ASPA;SPATA22
ASPA;SPATA22
CUI: C0206307
Disease:
Canavan Disease 		A 0.700 CausalMutation CLINVAR Canavan disease: mutations among Jewish and non-Jewish patients. 8023850 1994