GUSB, glucuronidase beta, 2990

N. diseases: 183; N. variants: 41
Disease: Mucopolysaccharidosis VII ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918185
rs121918185
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
CUI: C0085132
Disease:
Mucopolysaccharidosis VII 		A 0.700 CausalMutation CLINVAR Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families. 26036949 2015
dbSNP: rs121918185
rs121918185
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
CUI: C0085132
Disease:
Mucopolysaccharidosis VII 		A 0.700 CausalMutation CLINVAR Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome). 19224584 2009
dbSNP: rs121918185
rs121918185
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
CUI: C0085132
Disease:
Mucopolysaccharidosis VII 		A 0.700 CausalMutation CLINVAR Molecular analysis of the beta-glucuronidase gene: novel mutations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation region. 9099834 1997
dbSNP: rs121918185
rs121918185
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
CUI: C0085132
Disease:
Mucopolysaccharidosis VII 		A 0.700 CausalMutation CLINVAR Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII. 8644704 1996
dbSNP: rs121918185
rs121918185
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
CUI: C0085132
Disease:
Mucopolysaccharidosis VII 		A 0.700 CausalMutation CLINVAR A pseudodeficiency allele (D152N) of the human beta-glucuronidase gene. 7573038 1995
dbSNP: rs121918185
rs121918185
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
CUI: C0085132
Disease:
Mucopolysaccharidosis VII 		A 0.700 CausalMutation CLINVAR Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes. 7680524 1993