Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs138504221
rs138504221
SGSH
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		G 0.700 CausalMutation CLINVAR Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations. 22976768

2013
dbSNP: rs138504221
rs138504221
SGSH
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		G 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
dbSNP: rs138504221
rs138504221
SGSH
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		G 0.700 CausalMutation CLINVAR Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations. 21061399

2010
dbSNP: rs138504221
rs138504221
SGSH
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		G 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
dbSNP: rs138504221
rs138504221
SGSH
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		G 0.700 CausalMutation CLINVAR Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A. 15146460

2004
dbSNP: rs138504221
rs138504221
SGSH
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		G 0.700 CausalMutation CLINVAR Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A). 9401012

1997