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: rs121908285
rs121908285
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
CUI: C0086649
Disease:
MPS III C 		T 0.700 GeneticVariation CLINVAR Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles. 20825431 2011
dbSNP: rs121908285
rs121908285
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
CUI: C0086649
Disease:
MPS III C 		T 0.700 CausalMutation CLINVAR Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles. 20825431 2011
dbSNP: rs121908285
rs121908285
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
CUI: C0086649
Disease:
MPS III C 		T 0.700 GeneticVariation CLINVAR Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome). 20583299 2010
dbSNP: rs121908285
rs121908285
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
CUI: C0086649
Disease:
MPS III C 		T 0.700 CausalMutation CLINVAR Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome). 20583299 2010
dbSNP: rs121908285
rs121908285
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
CUI: C0086649
Disease:
MPS III C 		T 0.700 GeneticVariation CLINVAR Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C. 19823584 2009
dbSNP: rs121908285
rs121908285
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
CUI: C0086649
Disease:
MPS III C 		T 0.700 CausalMutation CLINVAR Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C. 19823584 2009
dbSNP: rs121908285
rs121908285
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
CUI: C0086649
Disease:
MPS III C 		T 0.700 GeneticVariation CLINVAR Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands. 18024218 2008
dbSNP: rs121908285
rs121908285
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
CUI: C0086649
Disease:
MPS III C 		T 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands. 18024218 2008
dbSNP: rs121908285
rs121908285
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
CUI: C0086649
Disease:
MPS III C 		T 0.700 CausalMutation CLINVAR Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). 17033958 2006
dbSNP: rs121908285
rs121908285
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
CUI: C0086649
Disease:
MPS III C 		T 0.700 GeneticVariation CLINVAR Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). 17033958 2006