Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934603
rs28934603
CTSA ; SPATA25 ; NEURL2
0.800 GeneticVariation UNIPROT Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis. 10944848

2000
dbSNP: rs28934603
rs28934603
CTSA ; SPATA25 ; NEURL2
0.800 GeneticVariation UNIPROT Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis. 8968752

1996
dbSNP: rs28934603
rs28934603
CTSA ; SPATA25 ; NEURL2
0.800 GeneticVariation UNIPROT Protective protein gene mutations in galactosialidosis. 8514852

1993
dbSNP: rs28934603
rs28934603
CTSA ; SPATA25 ; NEURL2
0.800 GeneticVariation UNIPROT A mutation in a mild form of galactosialidosis impairs dimerization of the protective protein and renders it unstable. 1756715

1991
dbSNP: rs28934603
rs28934603
CTSA ; SPATA25 ; NEURL2
C 0.800 CausalMutation CLINVAR