| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | GeneticVariation | UNIPROT | Reduced expression of APC-1B but not APC-1A by the deletion of promoter 1B is responsible for familial adenomatous polyposis. | 27217144 | 2016 |
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|
0.700 | GeneticVariation | UNIPROT | Inactivation of promoter 1B of APC causes partial gene silencing: evidence for a significant role of the promoter in regulation and causative of familial adenomatous polyposis. | 21643010 | 2011 |
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|
0.700 | GeneticVariation | UNIPROT | The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: a new facet to Knudson's 'two-hit' hypothesis. | 10470088 | 1999 |
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|
0.700 | GeneticVariation | UNIPROT | Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germline mutations identified by DGGE, PTT, and southern analysis. | 8990002 | 1997 |
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|
0.700 | GeneticVariation | UNIPROT | The molecular basis of Turcot's syndrome. | 7661930 | 1995 |
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|
0.700 | GeneticVariation | UNIPROT | Mutational analysis of the first 14 exons of the adenomatous polyposis coli (APC) gene. | 7833149 | 1994 |
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|
0.700 | GeneticVariation | UNIPROT | Four novel mutations of the APC (adenomatous polyposis coli) gene in FAP patients. | 7833931 | 1994 |
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|
0.700 | GeneticVariation | UNIPROT | Somatic mutations of the APC gene in colorectal tumors: mutation cluster region in the APC gene. | 1338904 | 1992 |
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|
0.700 | GeneticVariation | UNIPROT | Somatic mutation of the APC gene in gastric cancer: frequent mutations in very well differentiated adenocarcinoma and signet-ring cell carcinoma. | 1338691 | 1992 |
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|
0.700 | GeneticVariation | UNIPROT | Screening for germ-line mutations in familial adenomatous polyposis patients: 61 new patients and a summary of 150 unrelated patients. | 1338764 | 1992 |
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|
0.700 | GeneticVariation | UNIPROT | Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. | 1651563 | 1991 |