Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894591
rs104894591
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B 		T 0.700 CausalMutation CLINVAR Sanfilippo B syndrome: molecular defects in Greek patients. 14984474

2004
dbSNP: rs104894591
rs104894591
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B 		T 0.700 CausalMutation CLINVAR Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes. 10094189

1999
dbSNP: rs104894591
rs104894591
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B 		T 0.700 CausalMutation CLINVAR Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB). 9832037

1998
dbSNP: rs104894591
rs104894591
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B 		T 0.700 CausalMutation CLINVAR Five mutations were identified in cells of patients with Sanfilippo syndrome type B: 503del10, R297X, R626X, R643H, and R674H. 8650226

1996