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: rs1554533211
rs1554533211
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
CUI: C0086649
Disease:
MPS III C 		A 0.700 GeneticVariation CLINVAR Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). 17033958 2006