Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894639
rs104894639
SGSH
0.800 GeneticVariation UNIPROT Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations. 28101780

2017
dbSNP: rs104894639
rs104894639
SGSH
T 0.800 GeneticVariation CLINVAR A Prospective Natural History Study of Mucopolysaccharidosis Type IIIA. 26787381

2016
dbSNP: rs104894639
rs104894639
SGSH
T 0.800 CausalMutation CLINVAR A Prospective Natural History Study of Mucopolysaccharidosis Type IIIA. 26787381

2016
dbSNP: rs104894639
rs104894639
SGSH
T 0.800 GeneticVariation CLINVAR Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA. 24816101

2014
dbSNP: rs104894639
rs104894639
SGSH
T 0.800 GeneticVariation CLINVAR Treatment effect of coenzyme Q(10) and an antioxidant cocktail in fibroblasts of patients with Sanfilippo disease. 24347096

2014
dbSNP: rs104894639
rs104894639
SGSH
0.800 GeneticVariation UNIPROT Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome. 21671382

2011
dbSNP: rs104894639
rs104894639
SGSH
T 0.800 GeneticVariation CLINVAR Carrier testing for severe childhood recessive diseases by next-generation sequencing. 21228398

2011
dbSNP: rs104894639
rs104894639
SGSH
0.800 GeneticVariation UNIPROT 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: rs104894639
rs104894639
SGSH
T 0.800 CausalMutation CLINVAR [Postnatal and prenatal diagnosis of mucopolysaccharidosis type III (Sanfilippo syndrome)]. 19099774

2008
dbSNP: rs104894639
rs104894639
SGSH
0.800 GeneticVariation UNIPROT Gene symbol: SGSH. Disease: Sanfilippo type A syndrome, mucopolysaccharidosis IIIA. 17128482

2006
dbSNP: rs104894639
rs104894639
SGSH
0.800 GeneticVariation UNIPROT Strategies and clinical outcome of 250 cycles of Preimplantation Genetic Diagnosis for single gene disorders. 16311287

2006
dbSNP: rs104894639
rs104894639
SGSH
0.800 GeneticVariation UNIPROT Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene. 15902564

2005
dbSNP: rs104894639
rs104894639
SGSH
0.800 GeneticVariation UNIPROT An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene. 15637719

2005
dbSNP: rs104894639
rs104894639
SGSH
0.800 GeneticVariation UNIPROT Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A. 15146460

2004
dbSNP: rs104894639
rs104894639
SGSH
0.800 GeneticVariation UNIPROT Analysis of Sanfilippo A gene mutations in a large pedigree. 12702166

2003
dbSNP: rs104894639
rs104894639
SGSH
0.800 GeneticVariation UNIPROT Identification and characterization of mutations underlying Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA). 12000360

2002
dbSNP: rs104894639
rs104894639
SGSH
0.800 GeneticVariation UNIPROT Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B. 11793481

2002
dbSNP: rs104894639
rs104894639
SGSH
T 0.800 GeneticVariation CLINVAR Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation. 11343308

2001
dbSNP: rs104894639
rs104894639
SGSH
0.800 GeneticVariation UNIPROT Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations. 11182930

2000
dbSNP: rs104894639
rs104894639
SGSH
0.800 GeneticVariation UNIPROT Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients. 9744479

1998
dbSNP: rs104894639
rs104894639
SGSH
0.800 GeneticVariation UNIPROT Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations. 9554748

1998
dbSNP: rs104894639
rs104894639
SGSH
0.800 GeneticVariation UNIPROT Novel mutations in Sanfilippo A syndrome: implications for enzyme function. 9285796

1997
dbSNP: rs104894639
rs104894639
SGSH
0.800 GeneticVariation UNIPROT Molecular defects in Sanfilippo syndrome type A. 9158154

1997
dbSNP: rs104894639
rs104894639
SGSH
T 0.800 GeneticVariation CLINVAR Molecular defects in Sanfilippo syndrome type A. 9158154

1997
dbSNP: rs104894639
rs104894639
SGSH
0.800 GeneticVariation UNIPROT Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A). 9401012

1997