| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | Adenoma development in familial adenomatous polyposis and MUTYH-associated polyposis: somatic landscape and driver genes. | 26414517 | 2016 |
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|
T | 0.700 | CausalMutation | CLINVAR | Attenuated familial adenomatous polyposis with desmoids caused by an APC mutation. | 27081525 | 2015 |
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|
T | 0.700 | CausalMutation | CLINVAR | Prevalence of skin lesions in familial adenomatous polyposis: a marker for presymptomatic diagnosis? | 22135120 | 2011 |
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|
T | 0.700 | CausalMutation | CLINVAR | Mutation Analysis of the APC Gene in a Chinese FAP Pedigree with Unusual Phenotype. | 22164339 | 2011 |
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|
T | 0.700 | CausalMutation | CLINVAR | Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP. | 20685668 | 2010 |
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|
T | 0.700 | CausalMutation | CLINVAR | Regulated binding of adenomatous polyposis coli protein to actin. | 17293347 | 2007 |
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|
T | 0.700 | CausalMutation | CLINVAR | EB1 and APC bind to mDia to stabilize microtubules downstream of Rho and promote cell migration. | 15311282 | 2004 |
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|
T | 0.700 | CausalMutation | CLINVAR | Variable phenotype of familial adenomatous polyposis in pedigrees with 3' mutation in the APC gene. | 9824584 | 1998 |
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|
T | 0.700 | CausalMutation | CLINVAR | Mutational analysis of patients with adenomatous polyposis: identical inactivating mutations in unrelated individuals. | 8381579 | 1993 |
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T | 0.700 | CausalMutation | CLINVAR | Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients. | 1316610 | 1992 |