Disease: MPS III C ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1085307880
rs1085307880
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
CUI: C0086649
Disease:
MPS III C 		C 0.700 CausalMutation CLINVAR Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene. 19479962 2009
dbSNP: rs1085307880
rs1085307880
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
CUI: C0086649
Disease:
MPS III C 		C 0.700 CausalMutation CLINVAR Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online. 17397050 2007