rs875989777, CTSA

N. diseases: 9
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital pectus excavatum
CUI: C0016842
Disease: Congenital pectus excavatum
0.700 CausalMutation CLINVAR Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. 24769197 2014
Mild conductive hearing impairment
CUI: C4021536
Disease: Mild conductive hearing impairment
0.700 CausalMutation CLINVAR Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. 24769197 2014
GALACTOSIALIDOSIS
CUI: C0268233
Disease: GALACTOSIALIDOSIS
0.700 CausalMutation CLINVAR Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. 24769197 2014
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
0.700 CausalMutation CLINVAR Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. 24769197 2014
Kyphosis deformity of spine
CUI: C0022821
Disease: Kyphosis deformity of spine
0.700 CausalMutation CLINVAR Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. 24769197 2014
Aortic Valve Stenosis
CUI: C0003507
Disease: Aortic Valve Stenosis
0.700 CausalMutation CLINVAR Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. 24769197 2014
Short stature
CUI: C0349588
Disease: Short stature
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 Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. 24769197 2014
Mild Mental Retardation
CUI: C0026106
Disease: Mild Mental Retardation
0.700 CausalMutation CLINVAR Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. 24769197 2014
Mild Mental Retardation
CUI: C0026106
Disease: Mild Mental Retardation
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 Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis. 10944848 2000
GALACTOSIALIDOSIS
CUI: C0268233
Disease: GALACTOSIALIDOSIS
0.700 CausalMutation CLINVAR Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis. 10944848 2000
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
0.700 CausalMutation CLINVAR Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis. 10944848 2000
Short stature
CUI: C0349588
Disease: Short stature
0.700 CausalMutation CLINVAR Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis. 10944848 2000
Aortic Valve Stenosis
CUI: C0003507
Disease: Aortic Valve Stenosis
0.700 CausalMutation CLINVAR Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis. 10944848 2000
Congenital pectus excavatum
CUI: C0016842
Disease: Congenital pectus excavatum
0.700 CausalMutation CLINVAR Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis. 10944848 2000
Mild conductive hearing impairment
CUI: C4021536
Disease: Mild conductive hearing impairment
0.700 CausalMutation CLINVAR Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis. 10944848 2000
Kyphosis deformity of spine
CUI: C0022821
Disease: Kyphosis deformity of spine
0.700 CausalMutation CLINVAR Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis. 10944848 2000
Mild Mental Retardation
CUI: C0026106
Disease: Mild Mental Retardation
0.700 CausalMutation CLINVAR Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis. 8968752 1996
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
0.700 CausalMutation CLINVAR Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis. 8968752 1996
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
Aortic Valve Stenosis
CUI: C0003507
Disease: Aortic Valve Stenosis
0.700 CausalMutation CLINVAR Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis. 8968752 1996
Kyphosis deformity of spine
CUI: C0022821
Disease: Kyphosis deformity of spine
0.700 CausalMutation CLINVAR Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis. 8968752 1996
Short stature
CUI: C0349588
Disease: Short stature
0.700 CausalMutation CLINVAR Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis. 8968752 1996
Congenital pectus excavatum
CUI: C0016842
Disease: Congenital pectus excavatum
0.700 CausalMutation CLINVAR Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis. 8968752 1996