Gene: HGSNAT ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT 		0.100 GeneticVariation group 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 		0.100 GeneticVariation group CLINVAR Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). 17033958 2006