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 [Analysis of clinical features and arylsulfatase B gene mutation in thirteen Chinese children with mucopolysaccharidosis type VI]. 25190157 2014
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		1.000 GeneticVariation 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 Molecular characteristics of patients with glycosaminoglycan storage disorders in Russia. 24875751 2014
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		1.000 CausalMutation disease CLINVAR [Analysis of clinical features and arylsulfatase B gene mutation in thirteen Chinese children with mucopolysaccharidosis type VI]. 25190157 2014
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		1.000 GeneticVariation 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 Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase. 23557332 2013
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		1.000 Biomarker disease BEFREE Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome; MPS VI) is an autosomal recessive lysosomal storage disorder in which deficiency of N-acetylgalactosamine 4-sulfatase (arylsulfatase B; ARSB) leads to the storage of glycosaminoglycans (GAGs) in connective tissue. 23557332 2013
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		1.000 GeneticVariation disease BEFREE Mucopolysaccharidosis type VI: a predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene. 23633437 2013
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		1.000 GeneticVariation disease CLINVAR A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan. 24053568 2013
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		1.000 CausalMutation disease CLINVAR Macrophage involvement in mitral valve pathology in mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). 23949968 2013
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		1.000 CausalMutation disease CLINVAR Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase. 23557332 2013
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		1.000 GeneticVariation disease CLINVAR Haploidentical stem cell transplantation in two children with mucopolysaccharidosis VI: clinical and biochemical outcome. 24107440 2013
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		1.000 CausalMutation disease CLINVAR Mucopolysaccharidosis type VI: a predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene. 23633437 2013
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		1.000 CausalMutation disease CLINVAR Spondyloepiphyseal dysplasias and bilateral legg-calvé-perthes disease: diagnostic considerations for mucopolysaccharidoses. 23657977 2013
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		1.000 GeneticVariation disease CLINVAR Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations. 22976768 2013
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		1.000 AlteredExpression disease BEFREE Our study demonstrates that PTC124 but not gentamicin, increases the level of ARSB activity in three MPS VI patient fibroblast cell lines. 22971959 2013
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		1.000 GeneticVariation disease CLINVAR Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia. 22133300 2012
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		1.000 Biomarker disease BEFREE These data indicate that repeated IT-INJ of rhASB can safely prevent GAG storage in MPS-VI dura. 22289849 2012
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		1.000 GeneticVariation disease CLINVAR Clinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: a case series. 22441840 2012
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		1.000 Biomarker disease BEFREE Mucopolysaccharidosis VI (MPS VI) is a lysosomal storage disease caused by a deficiency of N-acetylgalactosamine 4-sulfatase (arylsulfatase B, ASB). 22405600 2012
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		1.000 CausalMutation disease CLINVAR Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia. 22133300 2012
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		1.000 CausalMutation disease CLINVAR Combined Enzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation in Mucopolysacharidosis Type VI. 23430861 2012
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		1.000 CausalMutation disease CLINVAR Clinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: a case series. 22441840 2012
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		1.000 GeneticVariation disease BEFREE Database of the clinical phenotypes, genotypes and mutant arylsulfatase B structures in mucopolysaccharidosis type VI. 22336888 2012
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		1.000 GeneticVariation disease CLINVAR Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI. 21930407 2011