rs1299207831, 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 CausalMutation CLINVAR Molecular characteristics of patients with glycosaminoglycan storage disorders in Russia. 24875751 2014
Mucopolysaccharidosis VI
CUI: C0026709
Disease: Mucopolysaccharidosis VI
0.700 CausalMutation CLINVAR Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) with a predominantly cardiac phenotype. 21917494 2011