GUSB, glucuronidase beta, 2990

N. diseases: 183; N. variants: 41
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918181
rs121918181
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
CUI: C0085132
Disease:
Mucopolysaccharidosis VII 		0.820 GeneticVariation UNIPROT Mutational analysis in longest known survivor of mucopolysaccharidosis type VII. 12522561 2003
dbSNP: rs121918181
rs121918181
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
CUI: C0085132
Disease:
Mucopolysaccharidosis VII 		0.820 GeneticVariation UNIPROT Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family. 12859417 2003
dbSNP: rs121918181
rs121918181
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
CUI: C0085132
Disease:
Mucopolysaccharidosis VII 		0.820 GeneticVariation BEFREE Missense models [Gustm(E536A)Sly, Gustm(E536Q)Sly, and Gustm(L175F)Sly] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis. 12403825 2002
dbSNP: rs121918181
rs121918181
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
CUI: C0085132
Disease:
Mucopolysaccharidosis VII 		0.820 GeneticVariation UNIPROT Low beta-glucuronidase enzyme activity and mutations in the human beta-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote. 9490302 1998
dbSNP: rs121918181
rs121918181
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
CUI: C0085132
Disease:
Mucopolysaccharidosis VII 		0.820 GeneticVariation UNIPROT Molecular analysis of the beta-glucuronidase gene: novel mutations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation region. 9099834 1997
dbSNP: rs121918181
rs121918181
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
CUI: C0085132
Disease:
Mucopolysaccharidosis VII 		0.820 GeneticVariation UNIPROT beta-Glucuronidase P408S, P415L mutations: evidence that both mutations combine to produce an MPS VII allele in certain Mexican patients. 8707294 1996
dbSNP: rs121918181
rs121918181
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
CUI: C0085132
Disease:
Mucopolysaccharidosis VII 		0.820 GeneticVariation UNIPROT Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII. 8644704 1996
dbSNP: rs121918181
rs121918181
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
CUI: C0085132
Disease:
Mucopolysaccharidosis VII 		0.820 GeneticVariation UNIPROT The 480G-->A mutation was found initially in the pseudodeficient mother of a child with mucopolysaccharidosis VII (MPSVII), but it was not on her disease-causing allele, which carried the L176F mutation. 7573038 1995
dbSNP: rs121918181
rs121918181
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
CUI: C0085132
Disease:
Mucopolysaccharidosis VII 		0.820 GeneticVariation UNIPROT Four novel mutations in mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the beta-glucuronidase gene that creates a novel 5'-splice site. 7633414 1995
dbSNP: rs121918181
rs121918181
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
CUI: C0085132
Disease:
Mucopolysaccharidosis VII 		0.820 GeneticVariation UNIPROT The L176F/P649L enzyme was as stable as wild-type enzyme following endocytosis by fibroblasts and delivery to lysosomes, but was more labile to heat inactivation at 65 degrees C. To study the mutant enzyme at lower levels of expression, we stably transfected mouse mucopolysaccharidosis type VII cells with the L176F/P649L cDNA and selected single-copy cell lines. 8089138 1994
dbSNP: rs121918181
rs121918181
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
CUI: C0085132
Disease:
Mucopolysaccharidosis VII 		0.820 GeneticVariation BEFREE Overexpression rescues the mutant phenotype of L176F mutation causing beta-glucuronidase deficiency mucopolysaccharidosis in two Mennonite siblings. 8089138 1994
dbSNP: rs121918181
rs121918181
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
CUI: C0085132
Disease:
Mucopolysaccharidosis VII 		0.820 GeneticVariation UNIPROT Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes. 7680524 1993
dbSNP: rs121918181
rs121918181
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
CUI: C0085132
Disease:
Mucopolysaccharidosis VII 		0.820 GeneticVariation UNIPROT Mutational studies in a patient with the hydrops fetalis form of mucopolysaccharidosis type VII. 8111413 1993
dbSNP: rs121918181
rs121918181
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
CUI: C0085132
Disease:
Mucopolysaccharidosis VII 		0.820 GeneticVariation UNIPROT Molecular analysis of a patient with hydrops fetalis caused by beta-glucuronidase deficiency, and evidence for additional pseudogenes. 8111412 1993
dbSNP: rs121918181
rs121918181
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
CUI: C0085132
Disease:
Mucopolysaccharidosis VII 		0.820 GeneticVariation UNIPROT Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity. 1702266 1991
dbSNP: rs121918181
rs121918181
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
CUI: C0085132
Disease:
Mucopolysaccharidosis VII 		A 0.820 CausalMutation CLINVAR
dbSNP: rs121918172
rs121918172
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
CUI: C0085132
Disease:
Mucopolysaccharidosis VII 		0.810 GeneticVariation UNIPROT Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family. 12859417 2003
dbSNP: rs121918172
rs121918172
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
CUI: C0085132
Disease:
Mucopolysaccharidosis VII 		0.810 GeneticVariation UNIPROT Mutational analysis in longest known survivor of mucopolysaccharidosis type VII. 12522561 2003
dbSNP: rs121918172
rs121918172
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
CUI: C0085132
Disease:
Mucopolysaccharidosis VII 		0.810 GeneticVariation BEFREE Treatment of MPS VII (Sly disease) by allogeneic BMT in a female with homozygous A619V mutation. 9543069 1998
dbSNP: rs121918172
rs121918172
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
CUI: C0085132
Disease:
Mucopolysaccharidosis VII 		0.810 GeneticVariation UNIPROT Low beta-glucuronidase enzyme activity and mutations in the human beta-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote. 9490302 1998
dbSNP: rs121918172
rs121918172
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
CUI: C0085132
Disease:
Mucopolysaccharidosis VII 		0.810 GeneticVariation UNIPROT Molecular analysis of the beta-glucuronidase gene: novel mutations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation region. 9099834 1997
dbSNP: rs121918172
rs121918172
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
CUI: C0085132
Disease:
Mucopolysaccharidosis VII 		0.810 GeneticVariation UNIPROT beta-Glucuronidase P408S, P415L mutations: evidence that both mutations combine to produce an MPS VII allele in certain Mexican patients. 8707294 1996
dbSNP: rs121918172
rs121918172
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
CUI: C0085132
Disease:
Mucopolysaccharidosis VII 		0.810 GeneticVariation UNIPROT Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII. 8644704 1996
dbSNP: rs121918172
rs121918172
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
CUI: C0085132
Disease:
Mucopolysaccharidosis VII 		0.810 GeneticVariation UNIPROT Four novel mutations in mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the beta-glucuronidase gene that creates a novel 5'-splice site. 7633414 1995
dbSNP: rs121918172
rs121918172
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
CUI: C0085132
Disease:
Mucopolysaccharidosis VII 		0.810 GeneticVariation UNIPROT A pseudodeficiency allele (D152N) of the human beta-glucuronidase gene. 7573038 1995