Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Mucopolysaccharidosis VII
|
0.700 | GeneticVariation | UNIPROT | Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family. | 12859417 | 2003 | |||||
Mucopolysaccharidosis VII
|
0.700 | GeneticVariation | UNIPROT | Mutational analysis in longest known survivor of mucopolysaccharidosis type VII. | 12522561 | 2003 | |||||
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 | |||||
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 | |||||
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 | |||||
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 | |||||
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 | |||||
Mucopolysaccharidosis VII
|
0.700 | GeneticVariation | UNIPROT | A pseudodeficiency allele (D152N) of the human beta-glucuronidase gene. | 7573038 | 1995 | |||||
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 | |||||
Mucopolysaccharidosis VII
|
0.700 | GeneticVariation | UNIPROT | Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes. | 7680524 | 1993 | |||||
Mucopolysaccharidosis VII
|
0.700 | GeneticVariation | UNIPROT | Mutational studies in a patient with the hydrops fetalis form of mucopolysaccharidosis type VII. | 8111413 | 1993 | |||||
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 | |||||
Mucopolysaccharidosis VII
|
0.700 | GeneticVariation | UNIPROT | Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity. | 1702266 | 1991 |