Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554069659
rs1554069659
ARSB
0.700 GeneticVariation UNIPROT Expert recommendations for the laboratory diagnosis of MPS VI. 22405600

2012
dbSNP: rs1554069659
rs1554069659
ARSB
0.700 GeneticVariation UNIPROT Segregation analysis in a family at risk for the Maroteaux-Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphism. 19259130

2009
dbSNP: rs1554069659
rs1554069659
ARSB
0.700 GeneticVariation UNIPROT Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy. 14974081

2004
dbSNP: rs1554069659
rs1554069659
ARSB
0.700 GeneticVariation UNIPROT Mucopolysaccharidosis type VI: Report of two Taiwanese patients and identification of one novel mutation. 11802522

2001
dbSNP: rs1554069659
rs1554069659
ARSB
0.700 GeneticVariation UNIPROT A novel mutation (Q239R) identified in a Taiwan Chinese patient with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome). 10738004

2000
dbSNP: rs1554069659
rs1554069659
ARSB
0.700 GeneticVariation UNIPROT Maroteaux-lamy syndrome: five novel mutations and their structural localization. 10036316

1999
dbSNP: rs1554069659
rs1554069659
ARSB
0.700 GeneticVariation UNIPROT Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients. 8651289

1996
dbSNP: rs1554069659
rs1554069659
ARSB
0.700 GeneticVariation UNIPROT N-acetylgalactosamine-4-sulfatase: identification of four new mutations within the conserved sulfatase region causing mucopolysaccharidosis type VI. 8541342

1995
dbSNP: rs1554069659
rs1554069659
ARSB
0.700 GeneticVariation UNIPROT Four novel mutant alleles of the arylsulfatase B gene in two patients with intermediate form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). 8125475

1994
dbSNP: rs1554069659
rs1554069659
ARSB
0.700 GeneticVariation UNIPROT Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes. 8116615

1994
dbSNP: rs1554069659
rs1554069659
ARSB
0.700 GeneticVariation UNIPROT Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity. 1550123

1992
dbSNP: rs1554069659
rs1554069659
ARSB
0.700 GeneticVariation 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