| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.810 | GeneticVariation | UNIPROT | Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association. | 11043508 | 2000 |
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|
T | 0.810 | GeneticVariation | CLINVAR | Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association. | 11043508 | 2000 |
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|
0.810 | GeneticVariation | UNIPROT | Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect. | 10502776 | 1999 |
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|
T | 0.810 | GeneticVariation | CLINVAR | Mutation analysis in patients with Wilson disease: identification of 4 novel mutations. Mutation in brief no. 250. Online. | 10447265 | 1999 |
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|
0.810 | GeneticVariation | UNIPROT | Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations. | 10544227 | 1999 |
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|
0.810 | GeneticVariation | UNIPROT | Mutation analysis in patients with Wilson disease: identification of 4 novel mutations. Mutation in brief no. 250. Online. | 10447265 | 1999 |
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|
0.810 | GeneticVariation | UNIPROT | Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups. | 9482578 | 1998 |
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|
0.810 | 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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|
T | 0.810 | GeneticVariation | CLINVAR | Further delineation of the molecular pathology of Wilson disease in the Mediterranean population. | 9671269 | 1998 |
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|
0.810 | GeneticVariation | UNIPROT | Efficient detection of mutations in Wilson disease by manifold sequencing. | 8938442 | 1996 |
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|
0.810 | GeneticVariation | UNIPROT | Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations. | 8533760 | 1995 |
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|
T | 0.810 | CausalMutation | CLINVAR |