GUSB, glucuronidase beta, 2990

N. diseases: 183; N. variants: 41
Disease: Mucopolysaccharidosis VI ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026709
Disease: Mucopolysaccharidosis VI
Mucopolysaccharidosis VI 		0.100 CausalMutation disease CLINVAR Lysosomal and network alterations in human mucopolysaccharidosis type VII iPSC-derived neurons. 30413728 2018
CUI: C0026709
Disease: Mucopolysaccharidosis VI
Mucopolysaccharidosis VI 		0.100 CausalMutation disease CLINVAR Clinical course of sly syndrome (mucopolysaccharidosis type VII). 26908836 2016
CUI: C0026709
Disease: Mucopolysaccharidosis VI
Mucopolysaccharidosis VI 		0.100 CausalMutation disease CLINVAR Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome). 19224584 2009
CUI: C0026709
Disease: Mucopolysaccharidosis VI
Mucopolysaccharidosis VI 		0.100 CausalMutation disease CLINVAR Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family. 12859417 2003
CUI: C0026709
Disease: Mucopolysaccharidosis VI
Mucopolysaccharidosis VI 		0.100 CausalMutation disease CLINVAR Missense models [Gustm(E536A)Sly, Gustm(E536Q)Sly, and Gustm(L175F)Sly] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis. 12403825 2002
CUI: C0026709
Disease: Mucopolysaccharidosis VI
Mucopolysaccharidosis VI 		0.100 CausalMutation disease CLINVAR Low beta-glucuronidase enzyme activity and mutations in the human beta-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote. 9490302 1998
CUI: C0026709
Disease: Mucopolysaccharidosis VI
Mucopolysaccharidosis VI 		0.100 CausalMutation disease CLINVAR A mutation (IVS8+0.6kbdelTC) creating a new donor splice site activates a cryptic exon in an Alu-element in intron 8 of the human beta-glucuronidase gene. 9921904 1998
CUI: C0026709
Disease: Mucopolysaccharidosis VI
Mucopolysaccharidosis VI 		0.100 CausalMutation disease CLINVAR Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII. 8644704 1996
CUI: C0026709
Disease: Mucopolysaccharidosis VI
Mucopolysaccharidosis VI 		0.100 CausalMutation disease CLINVAR Overexpression rescues the mutant phenotype of L176F mutation causing beta-glucuronidase deficiency mucopolysaccharidosis in two Mennonite siblings. 8089138 1994