Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854548
rs137854548
CTSA
0.700 GeneticVariation UNIPROT Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis. 10944848

2000
dbSNP: rs137854548
rs137854548
CTSA
0.700 GeneticVariation UNIPROT Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis. 8968752

1996
dbSNP: rs137854548
rs137854548
CTSA
0.700 GeneticVariation UNIPROT Protective protein gene mutations in galactosialidosis. 8514852

1993
dbSNP: rs137854548
rs137854548
CTSA
0.700 GeneticVariation UNIPROT A mutation in a mild form of galactosialidosis impairs dimerization of the protective protein and renders it unstable. 1756715

1991