Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5476
Gene Symbol: CTSA
CTSA
0.100 CausalMutation disease CLINVAR Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. 24769197 2014
Entrez Id: 5476
Gene Symbol: CTSA
CTSA
0.100 CausalMutation disease CLINVAR Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis. 10944848 2000
Entrez Id: 5476
Gene Symbol: CTSA
CTSA
0.100 CausalMutation disease CLINVAR Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis. 8968752 1996