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 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 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 BEFREE Sanfilippo syndrome type B (Sanfilippo B; Mucopolysaccharidosis type IIIB) occurs due to genetic deficiency of lysosomal alpha-N-acetylglucosaminidase (NAGLU) and subsequent lysosomal accumulation of heparan sulfate (HS), which coincides with devastating neurodegenerative disease. 30657762

2019

Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B
0.800 Biomarker BEFREE Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB [MPS IIIB]) is a lysosomal storage disorder primarily affecting the brain that is caused by a deficiency in the enzyme α-<i>N</i>-acetylglucosaminidase (NAGLU), leading to intralysosomal accumulation of heparan sulfate. 30101150

2018

Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B
0.800 Biomarker BEFREE RESOURCE DETAILS: Mucopolysaccharidosis IIIB (MPSIII, Sanfilippo syndrome type B) is a pediatric neurodegenerative disorder caused by a deficiency in NAGLU, an enzyme required for lysosomal degradation of heparin sulphate (HS). 30408744

2018

Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B
0.800 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
0.800 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

2017

Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B
0.800 Biomarker BEFREE We show that the NAGLU protein consists of a precursor and a mature form and that in SP MPSIIIB patients' fibroblasts only the precursor protein is present at 37°C. 28751108

2017

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 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B
0.800 AlteredExpression BEFREE 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 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B
0.800 Biomarker BEFREE CSF enzyme activity levels for either SGSH (in MPS IIIA subjects) or NAGLU (in MPS IIIB) significantly differed from normal controls. 27590925

2016

Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B
0.800 GeneticVariation CLINVAR A prospective one-year natural history study of mucopolysaccharidosis types IIIA and IIIB: Implications for clinical trial design. 27590925

2016

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 GeneticVariation CLINVAR Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway. 26075876

2015

Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B
0.800 Biomarker 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

2015

Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B
0.800 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
0.800 CausalMutation CLINVAR Early Umbilical Cord Blood-Derived Stem Cell Transplantation Does Not Prevent Neurological Deterioration in Mucopolysaccharidosis Type III. 25256447

2015

Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B
0.800 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
0.800 CausalMutation CLINVAR """Genotype-first"" approaches on a curious case of idiopathic progressive cognitive decline." 25466957

2014

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 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 GeneticVariation CLINVAR Mucopolysaccharidosis type IIIB mutations in Chinese patients: identification of two novel NAGLU mutations and analysis of two cases involving prenatal diagnosis. 23380547

2013

Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B
0.800 GeneticVariation CLINVAR A novel mutation (c.200T>C) in the NAGLU gene of a Korean patient with mucopolysaccharidosis IIIB. 23667853

2013