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: rs1424546265
rs1424546265
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
CUI: C0085132
Disease:
Mucopolysaccharidosis VII 		0.700 GeneticVariation UNIPROT Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family. 12859417 2003
dbSNP: rs1424546265
rs1424546265
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
CUI: C0085132
Disease:
Mucopolysaccharidosis VII 		0.700 GeneticVariation UNIPROT Mutational analysis in longest known survivor of mucopolysaccharidosis type VII. 12522561 2003
dbSNP: rs1424546265
rs1424546265
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
CUI: C0085132
Disease:
Mucopolysaccharidosis VII 		0.700 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: rs1424546265
rs1424546265
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
CUI: C0085132
Disease:
Mucopolysaccharidosis VII 		0.700 GeneticVariation UNIPROT Molecular analysis of the beta-glucuronidase gene: novel mutations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation region. 9099834 1997
dbSNP: rs1424546265
rs1424546265
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
CUI: C0085132
Disease:
Mucopolysaccharidosis VII 		0.700 GeneticVariation UNIPROT Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII. 8644704 1996
dbSNP: rs1424546265
rs1424546265
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
CUI: C0085132
Disease:
Mucopolysaccharidosis VII 		0.700 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: rs1424546265
rs1424546265
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
CUI: C0085132
Disease:
Mucopolysaccharidosis VII 		0.700 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: rs1424546265
rs1424546265
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
CUI: C0085132
Disease:
Mucopolysaccharidosis VII 		0.700 GeneticVariation UNIPROT A pseudodeficiency allele (D152N) of the human beta-glucuronidase gene. 7573038 1995
dbSNP: rs1424546265
rs1424546265
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
CUI: C0085132
Disease:
Mucopolysaccharidosis VII 		0.700 GeneticVariation UNIPROT Overexpression rescues the mutant phenotype of L176F mutation causing beta-glucuronidase deficiency mucopolysaccharidosis in two Mennonite siblings. 8089138 1994
dbSNP: rs1424546265
rs1424546265
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
CUI: C0085132
Disease:
Mucopolysaccharidosis VII 		0.700 GeneticVariation UNIPROT Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes. 7680524 1993
dbSNP: rs1424546265
rs1424546265
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
CUI: C0085132
Disease:
Mucopolysaccharidosis VII 		0.700 GeneticVariation UNIPROT Mutational studies in a patient with the hydrops fetalis form of mucopolysaccharidosis type VII. 8111413 1993
dbSNP: rs1424546265
rs1424546265
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
CUI: C0085132
Disease:
Mucopolysaccharidosis VII 		0.700 GeneticVariation UNIPROT Molecular analysis of a patient with hydrops fetalis caused by beta-glucuronidase deficiency, and evidence for additional pseudogenes. 8111412 1993
dbSNP: rs1424546265
rs1424546265
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
CUI: C0085132
Disease:
Mucopolysaccharidosis VII 		0.700 GeneticVariation UNIPROT Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity. 1702266 1991