Disease: RETINITIS PIGMENTOSA 73 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs483352908
rs483352908
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
CUI: C4225287
Disease:
RETINITIS PIGMENTOSA 73 		A 0.700 CausalMutation CLINVAR Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT). 25859010 2015
dbSNP: rs483352908
rs483352908
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
CUI: C4225287
Disease:
RETINITIS PIGMENTOSA 73 		A 0.700 CausalMutation CLINVAR The first Korean case of mucopolysaccharidosis IIIC (Sanfilippo syndrome type C) confirmed by biochemical and molecular investigation. 23301227 2013
dbSNP: rs483352908
rs483352908
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
CUI: C4225287
Disease:
RETINITIS PIGMENTOSA 73 		A 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: rs483352908
rs483352908
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
CUI: C4225287
Disease:
RETINITIS PIGMENTOSA 73 		A 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: rs483352908
rs483352908
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
CUI: C4225287
Disease:
RETINITIS PIGMENTOSA 73 		A 0.700 CausalMutation CLINVAR Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C. 19823584 2009
dbSNP: rs483352908
rs483352908
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
CUI: C4225287
Disease:
RETINITIS PIGMENTOSA 73 		A 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands. 18024218 2008
dbSNP: rs483352908
rs483352908
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
CUI: C4225287
Disease:
RETINITIS PIGMENTOSA 73 		A 0.700 CausalMutation CLINVAR Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). 17033958 2006