rs875989777, CTSA

N. diseases: 9
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
GALACTOSIALIDOSIS
CUI: C0268233
Disease: GALACTOSIALIDOSIS
0.700 CausalMutation CLINVAR Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis. 8968752 1996
Mild conductive hearing impairment
CUI: C4021536
Disease: Mild conductive hearing impairment
0.700 CausalMutation CLINVAR Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis. 8968752 1996