Disease: Mucopolysaccharidosis III ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		0.800 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 		0.800 Biomarker disease MGD Progressive neurologic and somatic disease in a novel mouse model of human mucopolysaccharidosis type IIIC. 27491071 2016
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		0.800 CausalMutation disease CLINVAR Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases. 26287674 2015
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		0.800 CausalMutation disease CLINVAR Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles. 20825431 2011
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		0.800 CausalMutation disease CLINVAR Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome). 20583299 2010
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		0.800 Biomarker disease GENOMICS_ENGLAND Atrioventricular block and diastolic dysfunction in a patient with Sanfilippo C. 21048366 2010
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		0.800 CausalMutation disease CLINVAR Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C. 19823584 2009
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		0.800 CausalMutation disease CLINVAR Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene. 19479962 2009
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		0.800 CausalMutation disease CLINVAR Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands. 18024218 2008
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		0.800 CausalMutation disease CLINVAR Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: two novel mutations in the HGSNAT gene. 18518886 2008
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		0.800 CausalMutation disease CLINVAR Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online. 17397050 2007
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		0.800 CausalMutation disease CLINVAR Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). 17033958 2006
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		0.800 CausalMutation disease CLINVAR Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C). 16960811 2006
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		0.800 Biomarker disease CTD_human