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 Biomarker CTD_human

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 GeneticVariation UNIPROT Sanfilippo B syndrome (mucopolysaccharidosis IIIB, MPS IIIB) is caused by a deficiency of alpha-N-acetylglucosaminidase, a lysosomal enzyme involved in the degradation of heparan sulphate. 10094189

1999

Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B
0.800 Biomarker BEFREE Sanfilippo B syndrome (mucopolysaccharidosis IIIB, MPS IIIB) is caused by a deficiency of alpha-N-acetylglucosaminidase, a lysosomal enzyme involved in the degradation of heparan sulphate. 10094189

1999

Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B
0.800 GeneticVariation CLINVAR Sanfilippo B syndrome (mucopolysaccharidosis IIIB, MPS IIIB) is caused by a deficiency of alpha-N-acetylglucosaminidase, a lysosomal enzyme involved in the degradation of heparan sulphate. 10094189

1999

Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B
0.800 CausalMutation CLINVAR Sanfilippo B syndrome (mucopolysaccharidosis IIIB, MPS IIIB) is caused by a deficiency of alpha-N-acetylglucosaminidase, a lysosomal enzyme involved in the degradation of heparan sulphate. 10094189

1999

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) is a rare autosomal recessive disorder characterized by the inability to degrade heparan sulfate because of a deficiency of the lysosomal enzyme alpha-N-acetylglucosaminidase (NAGLU). 11153910

2000

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 IIIB) is a rare autosomal recessive disorder characterized by the inability to degrade heparan sulfate because of a deficiency of the lysosomal enzyme alpha-N-acetylglucosaminidase (NAGLU). 11153910

2000

Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B
0.800 GeneticVariation UNIPROT Sanfilippo syndrome type B (mucopolysaccharidosis IIIB) is a rare autosomal recessive disorder characterized by the inability to degrade heparan sulfate because of a deficiency of the lysosomal enzyme alpha-N-acetylglucosaminidase (NAGLU). 11153910

2000

Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B
0.800 CausalMutation CLINVAR Sanfilippo syndrome type B (mucopolysaccharidosis IIIB) is a rare autosomal recessive disorder characterized by the inability to degrade heparan sulfate because of a deficiency of the lysosomal enzyme alpha-N-acetylglucosaminidase (NAGLU). 11153910

2000

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 GeneticVariation BEFREE Mucopolysaccharidosis type IIIB (MPS IIIB; or Sanfilippo syndrome type B) is a lysosomal disease, due to glycosaminoglycan storage caused by mutations on the alpha-N-acetylglucosaminidase (NAGLU) gene. 12049639

2002

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 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 CausalMutation 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 Biomarker BEFREE 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 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 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
0.800 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
0.800 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
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 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 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 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 GeneticVariation 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