rs121918181, GUSB

N. diseases: 3
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 Lysosomal and network alterations in human mucopolysaccharidosis type VII iPSC-derived neurons. 30413728 2018
Mucopolysaccharidosis VI
CUI: C0026709
Disease: Mucopolysaccharidosis VI
0.700 CausalMutation CLINVAR Clinical course of sly syndrome (mucopolysaccharidosis type VII). 26908836 2016
Mucopolysaccharidosis VI
CUI: C0026709
Disease: Mucopolysaccharidosis VI
0.700 CausalMutation CLINVAR Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome). 19224584 2009
Mucopolysaccharidosis VI
CUI: C0026709
Disease: Mucopolysaccharidosis VI
0.700 CausalMutation CLINVAR Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family. 12859417 2003
Mucopolysaccharidosis VI
CUI: C0026709
Disease: Mucopolysaccharidosis VI
0.700 CausalMutation CLINVAR Missense models [Gustm(E536A)Sly, Gustm(E536Q)Sly, and Gustm(L175F)Sly] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis. 12403825 2002
Mucopolysaccharidosis VI
CUI: C0026709
Disease: Mucopolysaccharidosis VI
0.700 CausalMutation CLINVAR Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII. 8644704 1996
Mucopolysaccharidosis VI
CUI: C0026709
Disease: Mucopolysaccharidosis VI
0.700 CausalMutation CLINVAR Overexpression rescues the mutant phenotype of L176F mutation causing beta-glucuronidase deficiency mucopolysaccharidosis in two Mennonite siblings. 8089138 1994