Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.800 CausalMutation CLINVAR Prediction of phenotypic severity in mucopolysaccharidosis type IIIA. 29023963

2017
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.800 CausalMutation CLINVAR Clinical, biochemical and molecular features of Iranian families with mucopolysaccharidosis: A case series. 28844463

2017
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.800 GeneticVariation CLINVAR Clinical, biochemical and molecular features of Iranian families with mucopolysaccharidosis: A case series. 28844463

2017
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.800 GeneticVariation CLINVAR A prospective one-year natural history study of mucopolysaccharidosis types IIIA and IIIB: Implications for clinical trial design. 27590925

2016
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.800 CausalMutation CLINVAR A Prospective Natural History Study of Mucopolysaccharidosis Type IIIA. 26787381

2016
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.800 CausalMutation CLINVAR Characterization of a Case of Pigmentary Retinopathy in Sanfilippo Syndrome Type IIIA Associated with Compound Heterozygous Mutations in the SGSH Gene. 26331342

2016
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.800 GeneticVariation CLINVAR A Prospective Natural History Study of Mucopolysaccharidosis Type IIIA. 26787381

2016
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.800 CausalMutation CLINVAR A prospective one-year natural history study of mucopolysaccharidosis types IIIA and IIIB: Implications for clinical trial design. 27590925

2016
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.800 GeneticVariation CLINVAR Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses. 25557439

2015
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.800 CausalMutation CLINVAR A multiparametric computational algorithm for comprehensive assessment of genetic mutations in mucopolysaccharidosis type IIIA (Sanfilippo syndrome). 25807448

2015
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.800 CausalMutation CLINVAR Sanfilippo syndrome: causes, consequences, and treatments. 26648750

2015
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.800 CausalMutation CLINVAR Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA. 24816101

2014
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.800 GeneticVariation CLINVAR Molecular characteristics of patients with glycosaminoglycan storage disorders in Russia. 24875751

2014
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.800 GeneticVariation CLINVAR Tachypnea of infancy as the first sign of Sanfilippo syndrome. 25113300

2014
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.800 CausalMutation CLINVAR Molecular characteristics of patients with glycosaminoglycan storage disorders in Russia. 24875751

2014
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.800 GeneticVariation CLINVAR Treatment effect of coenzyme Q(10) and an antioxidant cocktail in fibroblasts of patients with Sanfilippo disease. 24347096

2014
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.800 GeneticVariation CLINVAR Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA. 24816101

2014
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.800 GeneticVariation CLINVAR Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations. 22976768

2013
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.800 CausalMutation CLINVAR Natural history of Sanfilippo syndrome in Spain. 24314109

2013
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.800 CausalMutation CLINVAR Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations. 22976768

2013
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.800 GeneticVariation CLINVAR Natural history of Sanfilippo syndrome in Spain. 24314109

2013
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.800 GeneticVariation CLINVAR Unfolded protein response is not activated in the mucopolysaccharidoses but protein disulfide isomerase 5 is deregulated. 22002444

2012
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.800 CausalMutation CLINVAR Response to subspecialty training in preventive cardiology: the current status and discoverable fellowship programs. 22976788

2012
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.800 GeneticVariation CLINVAR Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III. 23084433

2012
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.800 CausalMutation CLINVAR Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III. 23084433

2012