Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs753520553
rs753520553
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B 		G 0.700 CausalMutation CLINVAR Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB. 26907177

2016
dbSNP: rs753520553
rs753520553
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B 		G 0.700 CausalMutation CLINVAR Sanfilippo B syndrome: molecular defects in Greek patients. 14984474

2004
dbSNP: rs753520553
rs753520553
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B 		G 0.700 CausalMutation CLINVAR Molecular defects in the alpha-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients. 11153910

2000
dbSNP: rs753520553
rs753520553
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B 		G 0.700 CausalMutation CLINVAR Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations. 9950362

1999
dbSNP: rs753520553
rs753520553
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B 		G 0.700 CausalMutation CLINVAR Genotype-phenotype correspondence in Sanfilippo syndrome type B. 9443875

1998
dbSNP: rs753520553
rs753520553
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B 		G 0.700 GeneticVariation CLINVAR We have identified, in amplified exons from nine fibroblast cell lines derived from Sanfilippo syndrome type B patients, 10 additional mutations: Y92H, P115S, Y140C, E153K, R203X, 650insC, 901delAA, P358L, A664V, and L682R. 9443878

1998
dbSNP: rs753520553
rs753520553
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B 		G 0.700 CausalMutation CLINVAR We have identified, in amplified exons from nine fibroblast cell lines derived from Sanfilippo syndrome type B patients, 10 additional mutations: Y92H, P115S, Y140C, E153K, R203X, 650insC, 901delAA, P358L, A664V, and L682R. 9443878

1998
dbSNP: rs753520553
rs753520553
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B 		G 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: rs753520553
rs753520553
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B 		G 0.700 GeneticVariation CLINVAR Genotype-phenotype correspondence in Sanfilippo syndrome type B. 9443875

1998