Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
0.100 CausalMutation disease CLINVAR How close are we to therapies for Sanfilippo disease? 28921412 2018
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
0.100 CausalMutation disease CLINVAR Sanfilippo syndrome: Overall review. 25851924 2015
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
0.100 CausalMutation disease CLINVAR Cardiac disease as the presenting feature of mucopolysaccharidosis type IIIA: A case report. 27896117 2014
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
0.100 CausalMutation disease CLINVAR Behavioural phenotypes of the mucopolysaccharide disorders: a systematic literature review of cognitive, motor, social, linguistic and behavioural presentation in the MPS disorders. 23385295 2013
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
0.100 CausalMutation disease CLINVAR Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome. 21671382 2011
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
0.100 CausalMutation disease CLINVAR Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations. 21061399 2010
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
0.100 CausalMutation disease CLINVAR Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A). 17938166 2007
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
0.100 CausalMutation disease CLINVAR Late-Onset visceral presentation with cardiomyopathy and without neurological symptoms of adult Sanfilippo A syndrome. 12687673 2003