GALNS, galactosamine (N-acetyl)-6-sulfatase, 2588

N. diseases: 138; N. variants: 95
Disease: Muscle hypotonia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555523411
rs1555523411
Entrez Id: 2588
Gene Symbol: GALNS
GALNS
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Multiplex Tandem Mass Spectrometry Enzymatic Activity Assay for Newborn Screening of the Mucopolysaccharidoses and Type 2 Neuronal Ceroid Lipofuscinosis. 28428354 2017
dbSNP: rs1555523411
rs1555523411
Entrez Id: 2588
Gene Symbol: GALNS
GALNS
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open-label, phase 2 study. 27774754 2017
dbSNP: rs1555523411
rs1555523411
Entrez Id: 2588
Gene Symbol: GALNS
GALNS
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Impact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with Morquio A syndrome. 25897204 2015
dbSNP: rs1555523411
rs1555523411
Entrez Id: 2588
Gene Symbol: GALNS
GALNS
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management. 23385297 2013
dbSNP: rs1555523411
rs1555523411
Entrez Id: 2588
Gene Symbol: GALNS
GALNS
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Diagnosing mucopolysaccharidosis IVA. 23371450 2013
dbSNP: rs1555523411
rs1555523411
Entrez Id: 2588
Gene Symbol: GALNS
GALNS
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA. 22358740 2013
dbSNP: rs1555523411
rs1555523411
Entrez Id: 2588
Gene Symbol: GALNS
GALNS
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Functional capacity evaluation of patients with mucopolysaccharidosis. 22543891 2012
dbSNP: rs1555523411
rs1555523411
Entrez Id: 2588
Gene Symbol: GALNS
GALNS
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment. 21506915 2011
dbSNP: rs1555523411
rs1555523411
Entrez Id: 2588
Gene Symbol: GALNS
GALNS
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR International Morquio A Registry: clinical manifestation and natural course of Morquio A disease. 17347914 2007
dbSNP: rs1555523411
rs1555523411
Entrez Id: 2588
Gene Symbol: GALNS
GALNS
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Multidisciplinary treatment approach of Morquio syndrome (Mucopolysaccharidosis Type IVA). 16539564 2006
dbSNP: rs1555523411
rs1555523411
Entrez Id: 2588
Gene Symbol: GALNS
GALNS
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A). 16287098 2005
dbSNP: rs1555523411
rs1555523411
Entrez Id: 2588
Gene Symbol: GALNS
GALNS
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Upper airways abnormalities and tracheal problems in Morquio's disease. 12728175 2003
dbSNP: rs1555523411
rs1555523411
Entrez Id: 2588
Gene Symbol: GALNS
GALNS
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR MRI of the brain and craniocervical junction in Morquio's disease. 9189888 1997
dbSNP: rs1555523411
rs1555523411
Entrez Id: 2588
Gene Symbol: GALNS
GALNS
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR The mucopolysaccharidoses: a clinical review and guide to management. 7741581 1995