rs118204438, GALNS

N. diseases: 3
Disease: Mucopolysaccharidosis IV ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Mucopolysaccharidosis IV
CUI: C0026707
Disease: Mucopolysaccharidosis IV
0.700 CausalMutation CLINVAR Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels. 23876334 2014
Mucopolysaccharidosis IV
CUI: C0026707
Disease: Mucopolysaccharidosis IV
0.700 CausalMutation CLINVAR Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene. 15235041 2004
Mucopolysaccharidosis IV
CUI: C0026707
Disease: Mucopolysaccharidosis IV
0.700 CausalMutation CLINVAR Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes. 10814710 2000
Mucopolysaccharidosis IV
CUI: C0026707
Disease: Mucopolysaccharidosis IV
0.700 CausalMutation CLINVAR Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype. 9521421 1998