Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 411
Gene Symbol: ARSB
ARSB
1.000 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 411
Gene Symbol: ARSB
ARSB
1.000 GeneticVariation disease UNIPROT Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI, MPS VI) is an autosomal recessive disorder due to the deficiency of the lysosomal enzyme N-acetylgalactosamine-4-sulfatase (arylsulfatase B, ASB). 10036316 1999
Entrez Id: 411
Gene Symbol: ARSB
ARSB
1.000 Biomarker disease BEFREE Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI, MPS VI) is an autosomal recessive disorder due to the deficiency of the lysosomal enzyme N-acetylgalactosamine-4-sulfatase (arylsulfatase B, ASB). 10036316 1999
Entrez Id: 411
Gene Symbol: ARSB
ARSB
1.000 GeneticVariation disease CLINVAR Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI, MPS VI) is an autosomal recessive disorder due to the deficiency of the lysosomal enzyme N-acetylgalactosamine-4-sulfatase (arylsulfatase B, ASB). 10036316 1999
Entrez Id: 212
Gene Symbol: ALAS2
ALAS2
0.050 AlteredExpression disease BEFREE Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI, MPS VI) is an autosomal recessive disorder due to the deficiency of the lysosomal enzyme N-acetylgalactosamine-4-sulfatase (arylsulfatase B, ASB). 10036316 1999
Entrez Id: 411
Gene Symbol: ARSB
ARSB
1.000 GeneticVariation disease BEFREE Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase. 11668612 2001
Entrez Id: 411
Gene Symbol: ARSB
ARSB
1.000 GeneticVariation disease UNIPROT Mucopolysaccharidosis type VI (MPS VI) is an autosomal recessive lysosomal storage disease caused by a deficiency of N-acetylgalactosamine-4-sulphatase (arylsulfatase B, ASB). 11802522 2001
Entrez Id: 411
Gene Symbol: ARSB
ARSB
1.000 CausalMutation disease CLINVAR Mucopolysaccharidosis type VI (MPS VI) is an autosomal recessive lysosomal storage disease caused by a deficiency of N-acetylgalactosamine-4-sulphatase (arylsulfatase B, ASB). 11802522 2001
Entrez Id: 411
Gene Symbol: ARSB
ARSB
1.000 GeneticVariation disease CLINVAR Mucopolysaccharidosis type VI (MPS VI) is an autosomal recessive lysosomal storage disease caused by a deficiency of N-acetylgalactosamine-4-sulphatase (arylsulfatase B, ASB). 11802522 2001
Entrez Id: 411
Gene Symbol: ARSB
ARSB
1.000 Biomarker disease BEFREE Mucopolysaccharidosis type VI (MPS VI) is an autosomal recessive lysosomal storage disease caused by a deficiency of N-acetylgalactosamine-4-sulphatase (arylsulfatase B, ASB). 11802522 2001
Entrez Id: 411
Gene Symbol: ARSB
ARSB
1.000 GeneticVariation disease BEFREE Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a Y210C mutation causes either altered protein handling or altered protein function of N-acetylgalactosamine 4-sulfatase at multiple points in the vacuolar network. 11939792 2002
Entrez Id: 411
Gene Symbol: ARSB
ARSB
1.000 Biomarker disease BEFREE Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome, MPS VI) is an autosomal recessive disorder caused by deficiency of N-acetylgalactosamine-4-sulphatase (ARSB),which leads to the lysosomal accumulation and excretion of dermatan sulphate (DS). 16435196 2005
Entrez Id: 411
Gene Symbol: ARSB
ARSB
1.000 GeneticVariation disease 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
1.000 GeneticVariation disease BEFREE Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). An intermediate clinical phenotype caused by substitution of valine for glycine at position 137 of arylsulfatase B. 1718978 1991
Entrez Id: 411
Gene Symbol: ARSB
ARSB
1.000 GeneticVariation disease UNIPROT Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). An intermediate clinical phenotype caused by substitution of valine for glycine at position 137 of arylsulfatase B. 1718978 1991
Entrez Id: 411
Gene Symbol: ARSB
ARSB
1.000 CausalMutation disease CLINVAR Mucopolysaccharidosis type VI (MPS VI; Maroteaux-Lamy syndrome) is a lysosomal storage disorder caused by mutations in the N-acetylgalactosamine-4-sulfatase (arylsulfatase B, ARSB) gene. 17458871 2007
Entrez Id: 411
Gene Symbol: ARSB
ARSB
1.000 GeneticVariation disease LHGDN Mucopolysaccharidosis type VI (MPS VI; Maroteaux-Lamy syndrome) is a lysosomal storage disorder caused by mutations in the N-acetylgalactosamine-4-sulfatase (arylsulfatase B, ARSB) gene. 17458871 2007
Entrez Id: 411
Gene Symbol: ARSB
ARSB
1.000 Biomarker disease CTD_human Mucopolysaccharidosis type VI (MPS VI; Maroteaux-Lamy syndrome) is a lysosomal storage disorder caused by mutations in the N-acetylgalactosamine-4-sulfatase (arylsulfatase B, ARSB) gene. 17458871 2007
Entrez Id: 411
Gene Symbol: ARSB
ARSB
1.000 GeneticVariation disease CLINVAR Mucopolysaccharidosis type VI (MPS VI; Maroteaux-Lamy syndrome) is a lysosomal storage disorder caused by mutations in the N-acetylgalactosamine-4-sulfatase (arylsulfatase B, ARSB) gene. 17458871 2007
Entrez Id: 411
Gene Symbol: ARSB
ARSB
1.000 GeneticVariation disease BEFREE Mucopolysaccharidosis type VI (MPS VI; Maroteaux-Lamy syndrome) is a lysosomal storage disorder caused by mutations in the N-acetylgalactosamine-4-sulfatase (arylsulfatase B, ARSB) gene. 17458871 2007
Entrez Id: 411
Gene Symbol: ARSB
ARSB
1.000 GeneticVariation disease LHGDN Maroteaux-Lamy syndrome, or mucopolysaccharidosis VI (MPS VI), is an autosomal recessive lysosomal storage disorder caused by a deficiency of N-acetylgalactosamine-4-sulfatase or arylsulfatase B (ARSB). 17643332 2007
Entrez Id: 411
Gene Symbol: ARSB
ARSB
1.000 CausalMutation disease CLINVAR Maroteaux-Lamy syndrome, or mucopolysaccharidosis VI (MPS VI), is an autosomal recessive lysosomal storage disorder caused by a deficiency of N-acetylgalactosamine-4-sulfatase or arylsulfatase B (ARSB). 17643332 2007
Entrez Id: 411
Gene Symbol: ARSB
ARSB
1.000 GeneticVariation disease CLINVAR Maroteaux-Lamy syndrome, or mucopolysaccharidosis VI (MPS VI), is an autosomal recessive lysosomal storage disorder caused by a deficiency of N-acetylgalactosamine-4-sulfatase or arylsulfatase B (ARSB). 17643332 2007
Entrez Id: 411
Gene Symbol: ARSB
ARSB
1.000 GeneticVariation disease CLINVAR Maroteaux-Lamy syndrome is an autosomal-recessive disorder due to the deficit of the lysosomal enzyme, arylsulfatase B (ARSB). 19259130 2009
Entrez Id: 411
Gene Symbol: ARSB
ARSB
1.000 GeneticVariation disease UNIPROT Maroteaux-Lamy syndrome is an autosomal-recessive disorder due to the deficit of the lysosomal enzyme, arylsulfatase B (ARSB). 19259130 2009