rs1554079284, ARSB

N. diseases: 1
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
0.700 GeneticVariation CLINVAR Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI. 26609033 2015
Mucopolysaccharidosis VI
CUI: C0026709
Disease: Mucopolysaccharidosis VI
0.700 GeneticVariation CLINVAR Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in the Arylsulfatase B (ARSB) Gene. 24243352 2014
Mucopolysaccharidosis VI
CUI: C0026709
Disease: Mucopolysaccharidosis VI
0.700 GeneticVariation CLINVAR Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe. 24373060 2014
Mucopolysaccharidosis VI
CUI: C0026709
Disease: Mucopolysaccharidosis VI
0.700 GeneticVariation CLINVAR [Identification of mutations in the arylsulfatase B gene in Russian mucopolysaccharidosis type VI patients]. 10923267 2000