Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.100 GeneticVariation CLINVAR Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene. 19479962

2009
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.100 GeneticVariation CLINVAR Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). 17033958

2006