GNS, glucosamine (N-acetyl)-6-sulfatase, 2799

N. diseases: 51; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders 		0.100 Biomarker group HPO
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 Biomarker phenotype HPO
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.100 Biomarker phenotype HPO
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		0.100 Biomarker phenotype HPO
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		0.100 Biomarker phenotype HPO
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.100 Biomarker phenotype HPO
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.100 Biomarker phenotype HPO
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		0.100 Biomarker phenotype HPO
CUI: C1854827
Disease: Heparan sulfate excretion in urine
Heparan sulfate excretion in urine 		0.100 Biomarker phenotype HPO
CUI: C1854882
Disease: Absent speech
Absent speech 		0.100 Biomarker phenotype HPO
CUI: C1868556
Disease: Ovoid thoracolumbar vertebrae
Ovoid thoracolumbar vertebrae 		0.100 Biomarker phenotype HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group HPO
CUI: C4025583
Disease: Cellular metachromasia
Cellular metachromasia 		0.100 Biomarker phenotype HPO
CUI: C0026703
Disease: Mucopolysaccharidoses
Mucopolysaccharidoses 		0.050 AlteredExpression disease BEFREE Mucopolysaccharidosis IIID (MPS IIID) is a lysosomal storage disease associated with deficient activity of the enzyme N-acetylglucosamine 6-sulfatase (EC 3.1.6.14), a lysosomal hydrolase in the heparan sulfate glycosaminoglycan (HS-GAG) degradation pathway. 15456941 2004
CUI: C0086650
Disease: MPS III D
MPS III D 		0.770 GermlineCausalMutation disease ORPHANET Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS Gene. 17998446 2007
CUI: C0086650
Disease: MPS III D
MPS III D 		0.770 GeneticVariation disease BEFREE Mucopolysaccharidosis type IIID (MPS-IIID), or Sanfilippo syndrome type D, is a rare autosomal recessive lysosomal storage disorder caused by mutations in the N-acetylglucosamine-6-sulfatase (GNS) gene, leading to impaired degradation of heparan sulfate. 17998446 2007
CUI: C0086650
Disease: MPS III D
MPS III D 		0.770 Biomarker disease BEFREE MPS IIID is caused by a deficiency of N-acetylglucosamine-6-sulphate sulphatase (GNS), one of the enzymes required for the degradation of heparan sulphate. 20232353 2010
CUI: C0086650
Disease: MPS III D
MPS III D 		0.770 GeneticVariation disease UNIPROT MPS IIID is caused by a deficiency of N-acetylglucosamine-6-sulphate sulphatase (GNS), one of the enzymes required for the degradation of heparan sulphate. 20232353 2010
CUI: C0026703
Disease: Mucopolysaccharidoses
Mucopolysaccharidoses 		0.050 GeneticVariation disease BEFREE Mucopolysaccharidoses type III (MPS III) are a group of autosomal recessive lysosomal storage diseases, caused by mutations in genes that code for enzymes involved in the lysosomal degradation of heparan sulphate: heparan sulfate sulfamidase (SGSH), α-Nacetylglucosaminidase (NAGLU), heparan sulfate acetyl-CoA: α-glucosaminide N-acetyltransferase (HGSNAT), and N-acetylglucosamine-6-sulfatase (GNS). 28101780 2017
CUI: C0026703
Disease: Mucopolysaccharidoses
Mucopolysaccharidoses 		0.050 GeneticVariation disease BEFREE A homozygous splice-site-mutation in the GNS gene could be found, compatible with mucopolysaccharidosis-Sanfillipo syndrome (type IIID). 27512882 2016
CUI: C0086650
Disease: MPS III D
MPS III D 		0.770 GeneticVariation disease BEFREE A series of genetic studies in the older sibling showed homozygous mutation in GNS gene compatible with MPS IIID. 27512882 2016
CUI: C0086650
Disease: MPS III D
MPS III D 		0.770 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0086650
Disease: MPS III D
MPS III D 		0.770 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		0.720 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		0.720 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016