Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		1.000 GeneticVariation disease CLINVAR Molecular findings of Colombian patients with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome). 26909334 2016
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		1.000 GeneticVariation disease CLINVAR Short Communication Impact of early enzyme-replacement therapy for mucopolysaccharidosis VI: results of a long-term follow-up of Brazilian siblings. 26910003 2016
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		1.000 CausalMutation disease CLINVAR Molecular findings of Colombian patients with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome). 26909334 2016
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		1.000 GeneticVariation disease CLINVAR Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI. 26609033 2015
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		1.000 GeneticVariation disease CLINVAR Prevalence of anti-adeno-associated virus serotype 8 neutralizing antibodies and arylsulfatase B cross-reactive immunologic material in mucopolysaccharidosis VI patient candidates for a gene therapy trial. 25654180 2015
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		1.000 GeneticVariation disease CLINVAR Mutations in ARSB in MPS VI patients in India. 26937411 2015
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		1.000 Biomarker disease BEFREE In the prospect of an AAV8-mediated, liver-directed gene therapy clinical trial for mucopolysaccharidosis VI (MPS VI), a lysosomal storage disorder caused by arylsulfatase B (ARSB) deficiency, we investigated in a multiethnic cohort of MPS VI patients the prevalence of neutralizing antibodies (Nab) to AAV8 and the presence of ARSB cross-reactive immunologic material (CRIM), which will either affect the efficacy of gene transfer or the duration of phenotypic correction. 25654180 2015
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		1.000 GeneticVariation disease BEFREE Deletion of exon 4 in the N-acetylgalactosamine-4-sulfatase gene in a Taiwanese patient with mucopolysaccharidosis type VI. 25797215 2015
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		1.000 GeneticVariation disease CLINVAR Mucopolysaccharidosis type VI on enzyme replacement therapy since infancy: Six years follow-up of four children. 28649537 2015
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		1.000 GeneticVariation disease BEFREE Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI. 26609033 2015
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		1.000 CausalMutation disease CLINVAR Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI. 26609033 2015
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		1.000 CausalMutation disease CLINVAR Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis. 24798265 2015
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		1.000 CausalMutation disease CLINVAR Prevalence of anti-adeno-associated virus serotype 8 neutralizing antibodies and arylsulfatase B cross-reactive immunologic material in mucopolysaccharidosis VI patient candidates for a gene therapy trial. 25654180 2015
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		1.000 GeneticVariation disease CLINVAR Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis. 24798265 2015
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		1.000 GeneticVariation disease CLINVAR Advantages of early replacement therapy for mucopolysaccharidosis type VI: echocardiographic follow-up of siblings. 23458163 2014
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		1.000 CausalMutation disease CLINVAR Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations. 24677745 2014
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		1.000 CausalMutation disease CLINVAR Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature. 24221504 2014
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		1.000 Biomarker disease BEFREE Mucopolysaccharidosis type VI (MPS VI - Maroteaux-Lamy syndrome) is a globally rare lysosomal storage disease caused by a deficiency of arylsulfatase B. 25060283 2014
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		1.000 CausalMutation disease CLINVAR Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders. 24767253 2014
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		1.000 CausalMutation disease CLINVAR Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe. 24373060 2014
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		1.000 GeneticVariation disease CLINVAR Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe. 24373060 2014
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		1.000 CausalMutation disease CLINVAR Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in the Arylsulfatase B (ARSB) Gene. 24243352 2014
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		1.000 GeneticVariation disease CLINVAR Molecular characteristics of patients with glycosaminoglycan storage disorders in Russia. 24875751 2014
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		1.000 GeneticVariation disease BEFREE Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations. 24677745 2014
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		1.000 GeneticVariation disease CLINVAR Allo-immune membranous nephropathy and recombinant aryl sulfatase replacement therapy: a need for tolerance induction therapy. 24262793 2014