Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894636
rs104894636
SGSH
CUI: C4023599
Disease: Abnormality of carbohydrate metabolism/homeostasis
Abnormality of carbohydrate metabolism/homeostasis 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs529855742
rs529855742
SGSH
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		A 0.700 CausalMutation CLINVAR

dbSNP: rs529855742
rs529855742
SGSH
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		A 0.700 CausalMutation CLINVAR

dbSNP: rs752914124
rs752914124
SGSH
CUI: C1836830
Disease: Developmental regression
Developmental regression 		C 0.700 CausalMutation CLINVAR

dbSNP: rs529855742
rs529855742
SGSH
CUI: C1836830
Disease: Developmental regression
Developmental regression 		A 0.700 CausalMutation CLINVAR

dbSNP: rs138504221
rs138504221
SGSH
CUI: C1836830
Disease: Developmental regression
Developmental regression 		G 0.700 CausalMutation CLINVAR

dbSNP: rs752914124
rs752914124
SGSH
CUI: C0011991
Disease: Diarrhea
Diarrhea 		C 0.700 CausalMutation CLINVAR

dbSNP: rs529855742
rs529855742
SGSH
CUI: C0011991
Disease: Diarrhea
Diarrhea 		A 0.700 CausalMutation CLINVAR

dbSNP: rs138504221
rs138504221
SGSH
CUI: C0011991
Disease: Diarrhea
Diarrhea 		G 0.700 CausalMutation CLINVAR

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
dbSNP: rs104894639
rs104894639
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: rs104894639
rs104894639
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: rs104894639
rs104894639
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: rs104894639
rs104894639
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: rs104894639
rs104894639
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: rs104894639
rs104894639
SGSH
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Sanfilippo syndrome: Overall review. 25851924

2015
dbSNP: rs104894639
rs104894639
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 Cardiac disease as the presenting feature of mucopolysaccharidosis type IIIA: A case report. 27896117

2014
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: 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: 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: 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 Sanfilippo syndrome: Overall review. 25851924

2015
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: 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