CTSA, cathepsin A, 5476

N. diseases: 13; N. variants: 17
Source: CLINVAR ×
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0268233
Disease: GALACTOSIALIDOSIS
GALACTOSIALIDOSIS 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 9 0.800 strong 1.000 7 9 1991 2019
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		disease Cardiovascular Diseases Disease or Syndrome 1 2 0.100 None 1.000 3 2 1996 2014
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 128 164 0.100 None 1.000 3 2 1996 2014
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype Pathological Conditions, Signs and Symptoms Finding 20 33 0.100 None 1.000 3 2 1996 2014
CUI: C4021536
Disease: Mild conductive hearing impairment
Mild conductive hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 1 2 0.100 None 1.000 3 2 1996 2014
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 190 292 0.100 None 1.000 3 2 1996 2014
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 39 48 0.100 None 1.000 3 2 1996 2014
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		phenotype Musculoskeletal Diseases Anatomical Abnormality 9 10 0.100 None 1.000 3 2 1996 2014
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 26 35 0.100 None 1.000 3 2 1996 2014
CUI: C0455988
Disease: Hydrops Fetalis, Non-Immune
Hydrops Fetalis, Non-Immune 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 16 21 0.100 None 1.000 1 1 2015 2015
CUI: C4017292
Disease: GALACTOSIALIDOSIS, LATE INFANTILE
GALACTOSIALIDOSIS, LATE INFANTILE 		disease Finding 1 6 0.100 None 0 6
CUI: C4017293
Disease: GALACTOSIALIDOSIS, ADULT
GALACTOSIALIDOSIS, ADULT 		phenotype Finding 1 1 0.100 None 0 1
CUI: C4017294
Disease: GALACTOSIALIDOSIS, EARLY INFANTILE
GALACTOSIALIDOSIS, EARLY INFANTILE 		disease Finding 1 3 0.100 None 0 3