CTSA, cathepsin A, 5476

N. diseases: 13; N. variants: 17
Source: CLINVAR ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268233
Disease: GALACTOSIALIDOSIS
GALACTOSIALIDOSIS 		0.800 CausalMutation disease CLINVAR Chemical chaperone treatment for galactosialidosis: Effect of NOEV on β-galactosidase activities in fibroblasts. 26259553 2016
CUI: C0268233
Disease: GALACTOSIALIDOSIS
GALACTOSIALIDOSIS 		0.800 CausalMutation disease CLINVAR Fundus autofluorescence imaging in a patient with the juvenile form of galactosialidosis. 24779613 2014
CUI: C0268233
Disease: GALACTOSIALIDOSIS
GALACTOSIALIDOSIS 		0.800 CausalMutation disease CLINVAR Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. 24769197 2014
CUI: C0268233
Disease: GALACTOSIALIDOSIS
GALACTOSIALIDOSIS 		0.800 CausalMutation disease CLINVAR Elastogenesis in cultured dermal fibroblasts from patients with lysosomal beta-galactosidase, protective protein/cathepsin A and neuraminidase-1 deficiencies. 16538002 2006
CUI: C0268233
Disease: GALACTOSIALIDOSIS
GALACTOSIALIDOSIS 		0.800 CausalMutation disease CLINVAR Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis. 10944848 2000
CUI: C0268233
Disease: GALACTOSIALIDOSIS
GALACTOSIALIDOSIS 		0.800 CausalMutation disease CLINVAR Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis. 8968752 1996
CUI: C0268233
Disease: GALACTOSIALIDOSIS
GALACTOSIALIDOSIS 		0.800 CausalMutation disease CLINVAR Protective protein gene mutations in galactosialidosis. 8514852 1993
CUI: C0455988
Disease: Hydrops Fetalis, Non-Immune
Hydrops Fetalis, Non-Immune 		0.100 GeneticVariation disease CLINVAR Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families. 26036949 2015
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		0.100 CausalMutation disease CLINVAR Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. 24769197 2014
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.100 CausalMutation disease CLINVAR Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. 24769197 2014
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.100 CausalMutation phenotype CLINVAR Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. 24769197 2014
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.100 CausalMutation disease CLINVAR Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. 24769197 2014
CUI: C0349588
Disease: Short stature
Short stature 		0.100 CausalMutation phenotype CLINVAR Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. 24769197 2014
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.100 CausalMutation phenotype CLINVAR Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. 24769197 2014
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 CausalMutation phenotype CLINVAR Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. 24769197 2014
CUI: C4021536
Disease: Mild conductive hearing impairment
Mild conductive hearing impairment 		0.100 CausalMutation phenotype CLINVAR Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. 24769197 2014
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		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
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		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
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.100 CausalMutation phenotype CLINVAR Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis. 10944848 2000
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		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
CUI: C0349588
Disease: Short stature
Short stature 		0.100 CausalMutation phenotype CLINVAR Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis. 10944848 2000
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.100 CausalMutation phenotype CLINVAR Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis. 10944848 2000
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 CausalMutation phenotype CLINVAR Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis. 10944848 2000
CUI: C4021536
Disease: Mild conductive hearing impairment
Mild conductive hearing impairment 		0.100 CausalMutation phenotype CLINVAR Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis. 10944848 2000
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		0.100 CausalMutation disease CLINVAR Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis. 8968752 1996