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
1.000 GeneticVariation UNIPROT Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations. 28101780

2018

Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B
1.000 GeneticVariation BEFREE Processing of mutant N-acetyl-α-glucosaminidase in mucopolysaccharidosis type IIIB fibroblasts cultured at low temperature. 28751108

2018

Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B
1.000 CausalMutation CLINVAR Clinical, biochemical and molecular features of Iranian families with mucopolysaccharidosis: A case series. 28844463

2017

Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B
1.000 GeneticVariation BEFREE To overcome these limitations, we delivered AAV9 vectors encoding for α-N-acetylglucosaminidase (NAGLU) to the Cerebrospinal Fluid (CSF) of MPSIIIB mice with the disease already detectable at biochemical, histological and functional level. 25524704

2016

Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B
1.000 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015

Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B
1.000 GeneticVariation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B
1.000 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B
1.000 GeneticVariation BEFREE NAG activity is deficient in cells from patients with Mucopolysaccharidosis type IIIB (MPS IIIB) due to mutations in NAGLU, the gene that encodes NAG. 23840811

2014

Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B
1.000 Biomarker BEFREE Insulin-like growth factor II peptide fusion enables uptake and lysosomal delivery of α-N-acetylglucosaminidase to mucopolysaccharidosis type IIIB fibroblasts. 24266751

2014

Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B
1.000 GeneticVariation BEFREE Mucopolysaccharidosis type IIIB (MPS IIIB) is a lysosomal storage disorder caused by over 130 mutations in NAGLU gene. 23380547

2013

Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B
1.000 GeneticVariation BEFREE This led to the identification of compound heterozygous mutations in NAGLU, compatible with the diagnosis of Mucopolysaccharidosis IIIB (MPS IIIB or Sanfilippo Syndrome type B). 21712855

2012

Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B
1.000 CausalMutation CLINVAR Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992

2012

Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B
1.000 AlteredExpression BEFREE She had marked reduction of her α-N-acetylglucosaminidase activity assay consistent with the diagnosis of mucopolysaccharidosis type IIIB. 20197271

2011

Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B
1.000 GeneticVariation BEFREE Over 100 different mutations in the NAGLU gene have been identified in Sanfilippo syndrome type B patients; however, no large deletions have been reported. 20138557

2010

Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B
1.000 GeneticVariation BEFREE Sanfilippo syndrome type B (mucopolysaccharidosis III B, MPS III B) is an autosomal recessive, neurodegenerative disease of children, characterized by profound mental retardation and dementia. 19416848

2009

Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B
1.000 Biomarker BEFREE Sanfilippo syndrome type B (MPS III B) is caused by a deficiency of alpha-N-acetylglucosaminidase enzyme (Naglu), leading to accumulation of heparan sulfate (HS), a glycosaminoglycan (GAG), within lysosomes and to eventual progressive cerebral and systemic multiple organ abnormalities. 19399896

2009

Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B
1.000 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
1.000 CausalMutation CLINVAR 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
1.000 Biomarker MGD Development of sensory, motor and behavioral deficits in the murine model of Sanfilippo syndrome type B. 17712420

2007

Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B
1.000 Biomarker BEFREE Sanfilippo type B syndrome (mucopolysaccharidosis type IIIB; MPS IIIB) is an autosomal recessive lysosomal storage disorder that is caused by defective alpha- N-acetylglucosaminidase (NAGLU). 15933803

2006

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

2006

Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B
1.000 GeneticVariation UNIPROT Sanfilippo syndrome type B (mucopolysaccharidosis IIIB) is an autosomal recessive disease that is caused by the deficiency of the lysosomal enzyme alpha-N-acetylglucosaminidase (NAGLU). 16151907

2006

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

2006

Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B
1.000 GeneticVariation UNIPROT Sanfilippo type B syndrome (mucopolysaccharidosis type IIIB; MPS IIIB) is an autosomal recessive lysosomal storage disorder that is caused by defective alpha- N-acetylglucosaminidase (NAGLU). 15933803

2006

Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B
1.000 AlteredExpression BEFREE The current study attempted to take advantage of this route for prenatal delivery of alpha-N-acetylglucosaminidase (Naglu) enzyme into the enzyme-deficient mouse model of Sanfilippo syndrome type B (MPS III B). 16401642

2006