| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups. | 9482578 | 1998 |
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|
0.800 | GeneticVariation | UNIPROT | Mutations of ATP7B gene in Wilson disease in Japan: identification of nine mutations and lack of clear founder effect in a Japanese population. | 9452121 | 1998 |
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|
0.800 | GeneticVariation | UNIPROT | Mutational analysis of ATP7B in north Chinese patients with Wilson disease. | 23235335 | 2013 |
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|
0.800 | GeneticVariation | UNIPROT | Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B. | 12325021 | 2002 |
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|
0.800 | GeneticVariation | UNIPROT | Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations. | 10544227 | 1999 |
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|
0.800 | GeneticVariation | UNIPROT | Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B. | 17919502 | 2007 |
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|
0.800 | GeneticVariation | UNIPROT | Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B. | 24706876 | 2014 |
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|
0.800 | GeneticVariation | UNIPROT | Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect. | 10502776 | 1999 |
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|
0.800 | GeneticVariation | UNIPROT | A genetic study of Wilson's disease in the United Kingdom. | 23518715 | 2013 |
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|
0.800 | GeneticVariation | UNIPROT | New novel mutation of the ATP7B gene in a family with Wilson disease. | 22075048 | 2012 |