rs991104525, ARSB

N. diseases: 4
Disease: Mucopolysaccharidosis VI ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Mucopolysaccharidosis VI
CUI: C0026709
Disease: Mucopolysaccharidosis VI
0.810 CausalMutation CLINVAR Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe. 24373060 2014
Mucopolysaccharidosis VI
CUI: C0026709
Disease: Mucopolysaccharidosis VI
0.810 CausalMutation CLINVAR Molecular characteristics of patients with glycosaminoglycan storage disorders in Russia. 24875751 2014
Mucopolysaccharidosis VI
CUI: C0026709
Disease: Mucopolysaccharidosis VI
0.810 CausalMutation CLINVAR Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature. 24221504 2014
Mucopolysaccharidosis VI
CUI: C0026709
Disease: Mucopolysaccharidosis VI
0.810 GeneticVariation BEFREE Mucopolysaccharidosis type VI: a predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene. 23633437 2013
Mucopolysaccharidosis VI
CUI: C0026709
Disease: Mucopolysaccharidosis VI
0.810 CausalMutation CLINVAR Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase. 23557332 2013
Mucopolysaccharidosis VI
CUI: C0026709
Disease: Mucopolysaccharidosis VI
0.810 CausalMutation CLINVAR Mucopolysaccharidosis type VI: a predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene. 23633437 2013
Mucopolysaccharidosis VI
CUI: C0026709
Disease: Mucopolysaccharidosis VI
0.810 CausalMutation CLINVAR Clinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: a case series. 22441840 2012
Mucopolysaccharidosis VI
CUI: C0026709
Disease: Mucopolysaccharidosis VI
0.810 CausalMutation CLINVAR High prevalence of p.R152W mutation in Poland, Belarus and Baltic States indicates a possible founder effect and suggests that screening for this mutation may be appropriate in MPS VI patients from this region. 22133300 2012
Mucopolysaccharidosis VI
CUI: C0026709
Disease: Mucopolysaccharidosis VI
0.810 GeneticVariation UNIPROT Expert recommendations for the laboratory diagnosis of MPS VI. 22405600 2012
Mucopolysaccharidosis VI
CUI: C0026709
Disease: Mucopolysaccharidosis VI
0.810 CausalMutation CLINVAR Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) with a predominantly cardiac phenotype. 21917494 2011
Mucopolysaccharidosis VI
CUI: C0026709
Disease: Mucopolysaccharidosis VI
0.810 CausalMutation CLINVAR Mutational analysis of 105 mucopolysaccharidosis type VI patients. 17458871 2007
Mucopolysaccharidosis VI
CUI: C0026709
Disease: Mucopolysaccharidosis VI
0.810 CausalMutation CLINVAR [Identification of mutations in the arylsulfatase B gene in Russian mucopolysaccharidosis type VI patients]. 10923267 2000
Mucopolysaccharidosis VI
CUI: C0026709
Disease: Mucopolysaccharidosis VI
0.810 CausalMutation CLINVAR Four novel mutant alleles of the arylsulfatase B gene in two patients with intermediate form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). 8125475 1994