rs875989777, CTSA

N. diseases: 9
Disease: Coarse facial features ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Coarse facial features
CUI: C1845847
Disease: Coarse facial features
0.700 CausalMutation CLINVAR Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. 24769197 2014
Coarse facial features
CUI: C1845847
Disease: Coarse facial features
0.700 CausalMutation CLINVAR Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis. 10944848 2000
Coarse facial features
CUI: C1845847
Disease: Coarse facial features
0.700 CausalMutation CLINVAR Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis. 8968752 1996