Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918184
rs121918184
GUSB
0.800 GeneticVariation UNIPROT Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family. 12859417

2003
dbSNP: rs121918184
rs121918184
GUSB
0.800 GeneticVariation UNIPROT Mutational analysis in longest known survivor of mucopolysaccharidosis type VII. 12522561

2003
dbSNP: rs121918184
rs121918184
GUSB
0.800 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: rs121918184
rs121918184
GUSB
0.800 GeneticVariation UNIPROT Molecular analysis of the beta-glucuronidase gene: novel mutations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation region. 9099834

1997
dbSNP: rs121918184
rs121918184
GUSB
0.800 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: rs121918184
rs121918184
GUSB
0.800 GeneticVariation UNIPROT Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII. 8644704

1996
dbSNP: rs121918184
rs121918184
GUSB
0.800 GeneticVariation UNIPROT A pseudodeficiency allele (D152N) of the human beta-glucuronidase gene. 7573038

1995
dbSNP: rs121918184
rs121918184
GUSB
0.800 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: rs121918184
rs121918184
GUSB
0.800 GeneticVariation UNIPROT Overexpression rescues the mutant phenotype of L176F mutation causing beta-glucuronidase deficiency mucopolysaccharidosis in two Mennonite siblings. 8089138

1994
dbSNP: rs121918184
rs121918184
GUSB
0.800 GeneticVariation UNIPROT Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes. 7680524

1993
dbSNP: rs121918184
rs121918184
GUSB
0.800 GeneticVariation UNIPROT Mutational studies in a patient with the hydrops fetalis form of mucopolysaccharidosis type VII. 8111413

1993
dbSNP: rs121918184
rs121918184
GUSB
0.800 GeneticVariation UNIPROT Molecular analysis of a patient with hydrops fetalis caused by beta-glucuronidase deficiency, and evidence for additional pseudogenes. 8111412

1993
dbSNP: rs121918184
rs121918184
GUSB
0.800 GeneticVariation UNIPROT Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity. 1702266

1991
dbSNP: rs121918184
rs121918184
GUSB
A 0.800 CausalMutation CLINVAR