rs138504221, SGSH

N. diseases: 9
Disease: Mucopolysaccharidosis III ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Mucopolysaccharidosis III
CUI: C0026706
Disease: Mucopolysaccharidosis III
0.700 CausalMutation CLINVAR Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations. 22976768 2013
Mucopolysaccharidosis III
CUI: C0026706
Disease: Mucopolysaccharidosis III
0.700 CausalMutation CLINVAR Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome. 21671382 2011
Mucopolysaccharidosis III
CUI: C0026706
Disease: Mucopolysaccharidosis III
0.700 CausalMutation CLINVAR Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations. 21061399 2010
Mucopolysaccharidosis III
CUI: C0026706
Disease: Mucopolysaccharidosis III
0.700 CausalMutation CLINVAR The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome). 18407553 2008
Mucopolysaccharidosis III
CUI: C0026706
Disease: Mucopolysaccharidosis III
0.700 CausalMutation CLINVAR Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A. 15146460 2004
Mucopolysaccharidosis III
CUI: C0026706
Disease: Mucopolysaccharidosis III
0.700 CausalMutation CLINVAR Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A). 9401012 1997