Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
CUI: C0086649
Disease: MPS III C
MPS III C 		0.800 GeneticVariation CLINVAR Natural History of Sanfilippo Syndrome Type C in Boyacá, Colombia. 27733599

2017
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
CUI: C0086649
Disease: MPS III C
MPS III C 		0.800 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
CUI: C0086649
Disease: MPS III C
MPS III C 		0.800 CausalMutation CLINVAR Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT). 25859010

2015
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
CUI: C0086649
Disease: MPS III C
MPS III C 		0.800 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
CUI: C0086649
Disease: MPS III C
MPS III C 		0.800 GeneticVariation CLINVAR Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders. 24767253

2014
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
CUI: C0086649
Disease: MPS III C
MPS III C 		0.800 CausalMutation CLINVAR Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations. 25491247

2014
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
CUI: C0086649
Disease: MPS III C
MPS III C 		0.800 CausalMutation CLINVAR Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders. 24767253

2014
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
CUI: C0086649
Disease: MPS III C
MPS III C 		0.800 CausalMutation CLINVAR The first Korean case of mucopolysaccharidosis IIIC (Sanfilippo syndrome type C) confirmed by biochemical and molecular investigation. 23301227

2013
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
CUI: C0086649
Disease: MPS III C
MPS III C 		0.800 GeneticVariation CLINVAR Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles. 20825431

2011
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
CUI: C0086649
Disease: MPS III C
MPS III C 		0.800 CausalMutation CLINVAR Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles. 20825431

2011
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
CUI: C0086649
Disease: MPS III C
MPS III C 		0.800 CausalMutation CLINVAR 54 variants of the HGSNAT gene have been identified in MPS IIIC patients thus far, 22 of which are missense mutations. 20583299

2010
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
CUI: C0086649
Disease: MPS III C
MPS III C 		0.800 GeneticVariation CLINVAR 54 variants of the HGSNAT gene have been identified in MPS IIIC patients thus far, 22 of which are missense mutations. 20583299

2010
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
CUI: C0086649
Disease: MPS III C
MPS III C 		0.800 CausalMutation CLINVAR Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene. 19479962

2009
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
CUI: C0086649
Disease: MPS III C
MPS III C 		0.800 GeneticVariation CLINVAR Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene. 19479962

2009
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
CUI: C0086649
Disease: MPS III C
MPS III C 		0.800 CausalMutation CLINVAR Surprisingly, the majority of MPS IIIC patients carrying missense mutations are as severely affected as those with splicing errors, frame shifts or nonsense mutations resulting in the complete absence of HGSNAT protein.In order to understand the effects of the missense mutations in HGSNAT on its enzymatic activity and biogenesis, we have expressed 21 mutant proteins in cultured human fibroblasts and COS-7 cells and studied their folding, targeting and activity. 19823584

2009
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
CUI: C0086649
Disease: MPS III C
MPS III C 		0.800 GeneticVariation CLINVAR Surprisingly, the majority of MPS IIIC patients carrying missense mutations are as severely affected as those with splicing errors, frame shifts or nonsense mutations resulting in the complete absence of HGSNAT protein.In order to understand the effects of the missense mutations in HGSNAT on its enzymatic activity and biogenesis, we have expressed 21 mutant proteins in cultured human fibroblasts and COS-7 cells and studied their folding, targeting and activity. 19823584

2009
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
CUI: C0086649
Disease: MPS III C
MPS III C 		0.800 GeneticVariation CLINVAR We performed a clinical study on 29 Dutch MPS IIIC patients and determined causative mutations in the recently identified HGSNAT gene. 18024218

2008
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
CUI: C0086649
Disease: MPS III C
MPS III C 		0.800 CausalMutation CLINVAR We performed a clinical study on 29 Dutch MPS IIIC patients and determined causative mutations in the recently identified HGSNAT gene. 18024218

2008
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
CUI: C0086649
Disease: MPS III C
MPS III C 		0.800 CausalMutation CLINVAR However, only very recently has the gene for MPS IIIC (heparin acetyl CoA: alpha-glucosaminide N-acetyltransferase, or HGSNAT) been identified. 17397050

2007
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
CUI: C0086649
Disease: MPS III C
MPS III C 		0.800 GeneticVariation CLINVAR However, only very recently has the gene for MPS IIIC (heparin acetyl CoA: alpha-glucosaminide N-acetyltransferase, or HGSNAT) been identified. 17397050

2007
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
CUI: C0086649
Disease: MPS III C
MPS III C 		0.800 CausalMutation CLINVAR Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). 17033958

2006
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
CUI: C0086649
Disease: MPS III C
MPS III C 		0.800 GeneticVariation CLINVAR Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). 17033958

2006
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
CUI: C0086649
Disease: MPS III C
MPS III C 		0.800 CausalMutation CLINVAR Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C). 16960811

2006