Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B 		0.800 GeneticVariation CLINVAR Allelic heterogeneity in Spanish patients with Sanfilippo disease type B. Identification of eight new mutations. 11286389

2001
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B 		0.800 GeneticVariation BEFREE Mucopolysaccharidosis type IIIB (MPS-IIIB, Sanfilippo type B Syndrome) is a heterosomal, recessive lysosomal storage disorder resulting from a deficiency of [alpha]-N-acetylglucosaminidase (NAGLU). 11237686

2001
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B 		0.800 CausalMutation CLINVAR Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB. 26907177

2016
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B 		0.800 CausalMutation CLINVAR Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III. 23084433

2012
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B 		0.800 GeneticVariation CLINVAR Sanfilippo syndrome type B [mucopolysaccharidosis IIIB (MPS IIIB] is the most prevalent type of MPS III in Greece, accounting for 81% of all MPS III cases diagnosed at the Institute of Child Health (Athens) over the last 20 years. 14984474

2004
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B 		0.800 GeneticVariation UNIPROT NAGLU mutations underlying Sanfilippo syndrome type B. 9443878

1998
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B 		0.800 GeneticVariation UNIPROT Identification and characterisation of mutations underlying Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB). 11836372

2002
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B 		0.800 GeneticVariation BEFREE Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB). 9832037

1998
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B 		0.800 GeneticVariation CLINVAR Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula. 18218046

2008
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B 		0.800 GeneticVariation BEFREE An induced pluripotent stem cell line (TRNDi006-A) from a MPS IIIB patient carrying homozygous mutation of p.Glu153Lys in the NAGLU gene. 30933722

2019
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B 		0.800 CausalMutation CLINVAR Sanfilippo syndrome type B, or mucopolysaccharidosis type IIIB, results from defects in the gene for alpha-N-acetylglucosaminidase (NAGLU); only a few mutations have been described. 9443875

1998
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B 		0.800 Biomarker BEFREE Mucopolysaccharidosis type IIIB (Sanfilippo B disease) is a rare autosomal recessive disorder caused by defective alpha-N-acetylglucosaminidase (NAGLU). 18218046

2008
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B 		0.800 CausalMutation CLINVAR Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece. 21204211

2011
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B 		0.800 GeneticVariation UNIPROT The gene for NAGLU has been fully characterized and we report the molecular analysis of 18 Sanfilippo B families. 16151907

2005
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B 		0.800 GeneticVariation UNIPROT Sanfilippo syndrome type B, or mucopolysaccharidosis type IIIB, results from defects in the gene for alpha-N-acetylglucosaminidase (NAGLU); only a few mutations have been described. 9443875

1998
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B 		0.800 Biomarker GENOMICS_ENGLAND Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation. 25818867

2015
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B 		0.800 CausalMutation CLINVAR Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula. 18218046

2008
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B 		0.800 CausalMutation CLINVAR A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions. 21712855

2012
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B 		0.800 GeneticVariation BEFREE Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations. 9950362

1999
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B 		0.800 GeneticVariation UNIPROT Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB). 9832037

1998
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B 		0.800 CausalMutation CLINVAR Natural history of Sanfilippo syndrome in Spain. 24314109

2013
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B 		0.800 Biomarker BEFREE The gene for NAGLU has been fully characterized and we report the molecular analysis of 18 Sanfilippo B families. 16151907

2005
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B 		0.800 GeneticVariation CLINVAR Natural history of Sanfilippo syndrome in Spain. 24314109

2013
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B 		0.800 Biomarker BEFREE Structural characterization of the α-N-acetylglucosaminidase, a key enzyme in the pathogenesis of Sanfilippo syndrome B. 30802506

2019
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B 		0.800 GeneticVariation UNIPROT Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B. 11793481

2002