Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786200859
rs786200859
CTSA
G 0.700 CausalMutation CLINVAR Chemical chaperone treatment for galactosialidosis: Effect of NOEV on β-galactosidase activities in fibroblasts. 26259553

2016
dbSNP: rs786200859
rs786200859
CTSA
G 0.700 CausalMutation CLINVAR Fundus autofluorescence imaging in a patient with the juvenile form of galactosialidosis. 24779613

2014
dbSNP: rs786200859
rs786200859
CTSA
G 0.700 CausalMutation CLINVAR Elastogenesis in cultured dermal fibroblasts from patients with lysosomal beta-galactosidase, protective protein/cathepsin A and neuraminidase-1 deficiencies. 16538002

2006
dbSNP: rs786200859
rs786200859
CTSA
G 0.700 CausalMutation CLINVAR Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis. 8968752

1996
dbSNP: rs786200859
rs786200859
CTSA
G 0.700 CausalMutation CLINVAR Protective protein gene mutations in galactosialidosis. 8514852

1993