Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1046551417
rs1046551417
SGSH
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		T 0.700 CausalMutation CLINVAR A prospective one-year natural history study of mucopolysaccharidosis types IIIA and IIIB: Implications for clinical trial design. 27590925

2016
dbSNP: rs1046551417
rs1046551417
SGSH
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		T 0.700 CausalMutation CLINVAR Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations. 11182930

2000
dbSNP: rs104894635
rs104894635
SGSH
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 CausalMutation CLINVAR How close are we to therapies for Sanfilippo disease? 28921412

2018
dbSNP: rs104894635
rs104894635
SGSH
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR How close are we to therapies for Sanfilippo disease? 28921412

2018
dbSNP: rs104894635
rs104894635
SGSH
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 CausalMutation CLINVAR Sanfilippo syndrome: Overall review. 25851924

2015
dbSNP: rs104894635
rs104894635
SGSH
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Sanfilippo syndrome: Overall review. 25851924

2015
dbSNP: rs104894635
rs104894635
SGSH
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Cardiac disease as the presenting feature of mucopolysaccharidosis type IIIA: A case report. 27896117

2014
dbSNP: rs104894635
rs104894635
SGSH
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 CausalMutation CLINVAR Cardiac disease as the presenting feature of mucopolysaccharidosis type IIIA: A case report. 27896117

2014
dbSNP: rs104894635
rs104894635
SGSH
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 CausalMutation 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
dbSNP: rs104894635
rs104894635
SGSH
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation 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
dbSNP: rs104894635
rs104894635
SGSH
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 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: rs104894635
rs104894635
SGSH
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 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: rs104894635
rs104894635
SGSH
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations. 21061399

2010
dbSNP: rs104894635
rs104894635
SGSH
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 CausalMutation CLINVAR Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations. 21061399

2010
dbSNP: rs104894635
rs104894635
SGSH
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 CausalMutation CLINVAR Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A). 17938166

2007
dbSNP: rs104894635
rs104894635
SGSH
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A). 17938166

2007
dbSNP: rs104894635
rs104894635
SGSH
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 CausalMutation CLINVAR Late-Onset visceral presentation with cardiomyopathy and without neurological symptoms of adult Sanfilippo A syndrome. 12687673

2003
dbSNP: rs104894635
rs104894635
SGSH
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Late-Onset visceral presentation with cardiomyopathy and without neurological symptoms of adult Sanfilippo A syndrome. 12687673

2003
dbSNP: rs104894635
rs104894635
SGSH
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		T 0.700 CausalMutation CLINVAR Identification of a common mutation (R245H) in Sanfilippo A patients from The Netherlands. 9700599

1998
dbSNP: rs104894635
rs104894635
SGSH
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		T 0.700 CausalMutation CLINVAR Molecular defects in Sanfilippo syndrome type A. 9158154

1997
dbSNP: rs104894636
rs104894636
SGSH
CUI: C4023599
Disease: Abnormality of carbohydrate metabolism/homeostasis
Abnormality of carbohydrate metabolism/homeostasis 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs104894637
rs104894637
SGSH
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		C 0.700 CausalMutation CLINVAR Expression and functional characterization of human mutant sulfamidase in insect cells. 15542396

2004
dbSNP: rs104894637
rs104894637
SGSH
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		C 0.700 CausalMutation CLINVAR Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations. 9554748

1998
dbSNP: rs104894637
rs104894637
SGSH
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		C 0.700 CausalMutation CLINVAR Molecular defects in Sanfilippo syndrome type A. 9158154

1997
dbSNP: rs104894639
rs104894639
SGSH
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR How close are we to therapies for Sanfilippo disease? 28921412

2018