Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 411
Gene Symbol: ARSB
ARSB
0.100 Biomarker group BEFREE The highly robust tandem mass spectrometry-based enzyme assays for MPS-I, MPS-II, and MPS-VI allow for high-throughput newborn screening for these lysosomal storage disorders. 30409495 2019
Entrez Id: 411
Gene Symbol: ARSB
ARSB
0.100 Biomarker group BEFREE Mucopolysaccharidosis type VI (MPS VI) is a severe lysosomal storage disorder without central nervous system involvement caused by arylsulfatase B (ARSB) deficiency. 22971959 2013
Entrez Id: 411
Gene Symbol: ARSB
ARSB
0.100 GeneticVariation group 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
0.100 Biomarker group BEFREE MPS VI (mucopolysaccharidosis type VI) is a lysosomal storage disease in which deficient activity of the enzyme N-acetylgalactosamine 4-sulfatase [ASB (arylsulfatase B)] impairs the stepwise degradation of the GAG (glycosaminoglycan) dermatan sulfate. 17672828 2008
Entrez Id: 411
Gene Symbol: ARSB
ARSB
0.100 GeneticVariation group BEFREE Mucopolysaccharidosis type VI (MPS VI; Maroteaux-Lamy syndrome) is a lysosomal storage disorder caused by mutations in the N-acetylgalactosamine-4-sulfatase (ARSB) gene. 17161971 2007
Entrez Id: 411
Gene Symbol: ARSB
ARSB
0.100 GeneticVariation group BEFREE Mucopolysaccharidosis VI (MPS VI; Maroteaux-Lamy syndrome) is a lysosomal storage disease caused by a deficiency of the enzyme N-acetylgalactosamine 4-sulfatase (ASB). 15930196 2005
Entrez Id: 411
Gene Symbol: ARSB
ARSB
0.100 Biomarker group BEFREE Mucopolysaccharidosis type VI (MPS VI), or Maroteaux-Lamy syndrome, is a lysosomal storage disorder caused by a deficiency of N-acetylgalactosamine-4-sulfatase (ARSB). 14974081 2004
Entrez Id: 411
Gene Symbol: ARSB
ARSB
0.100 GeneticVariation group BEFREE Mucopolysaccharidosis type VI (MPS-VI) is an autosomal recessive lysosomal storage disorder caused by the deficiency of N-acetylgalactosamine-4-sulfatase (4S; or ARSB). 11668612 2001
Entrez Id: 411
Gene Symbol: ARSB
ARSB
0.100 GeneticVariation group BEFREE Mucopolysaccharidosis type VI (MPS VI) is a lysosomal storage disease caused by a deficiency of N-acetylgalactosamine-4-sulfatase (4S). 9421472 1998
Entrez Id: 411
Gene Symbol: ARSB
ARSB
0.100 Biomarker group BEFREE A deficiency of the enzyme arylsulfatase B results in the lysosomal storage disorder Maroteaux-Lamy syndrome or mucopolysaccharidosis type VI. 8144552 1994
Entrez Id: 411
Gene Symbol: ARSB
ARSB
0.100 GeneticVariation group BEFREE The identification of these three ASB mutations documents the first evidence of molecular heterogeneity in MPS VI and provides an initial basis for genotype/phenotype correlations in this lysosomal storage disease. 1550123 1992
Entrez Id: 411
Gene Symbol: ARSB
ARSB
0.100 GeneticVariation group BEFREE The Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI) is a lysosomal storage disease with autosomal recessive inheritance caused by deficiency of the enzyme arylsulfatase B. 1718978 1991
Entrez Id: 411
Gene Symbol: ARSB
ARSB
0.100 Biomarker group BEFREE The Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI; MPS VI) is a lysosomal storage disease caused by deficiency of the enzyme arylsulphatase B (ASB). 1904721 1991