Gene: HGSNAT ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT 		0.060 GeneticVariation disease BEFREE It is classified as MPS type III, though it is caused by four different genetic defects, determining subtypes A, B, C and D. In each subtype of MPS III, the primary storage GAG is heparan sulfate (HS), but mutations leading to A, B, C, and D subtypes are located in genes coding for heparan N-sulfatase (the SGSH gene), α-N-acetylglucosaminidase (the NAGLU gene), acetyl-CoA:α-glucosaminide acetyltransferase (the HGSNAT gene), and N-acetylglucosamine-6-sulfatase (the GNS gene), respectively. 28921412 2018
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT 		0.060 GeneticVariation disease BEFREE Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome). 20583299 2010
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT 		0.060 GeneticVariation disease LHGDN Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: two novel mutations in the HGSNAT gene. 18518886 2008
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT 		0.060 GeneticVariation disease BEFREE Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online. 17397050 2007
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT 		0.060 GeneticVariation disease LHGDN Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C). 16960811 2006
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT 		0.060 GeneticVariation disease BEFREE Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). 17033958 2006