Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Polyposis, Adenomatous Intestinal
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
0.700 GeneticVariation CLINVAR Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. 24728327 2014
Polyposis, Adenomatous Intestinal
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
0.700 GeneticVariation CLINVAR The UMD-APC database, a model of nation-wide knowledge base: update with data from 3,581 variations. 24599579 2014
Polyposis, Adenomatous Intestinal
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
0.700 GeneticVariation CLINVAR ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). 24310308 2014
Polyposis, Adenomatous Intestinal
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
0.700 GeneticVariation CLINVAR Colorectal tumors from APC*I1307K carriers principally harbor somatic APC mutations outside the A8 tract. 24416237 2014
Polyposis, Adenomatous Intestinal
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
0.700 SusceptibilityMutation CLINVAR APC polymorphisms and the risk of colorectal neoplasia: a HuGE review and meta-analysis. 23576677 2013
Polyposis, Adenomatous Intestinal
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
0.700 SusceptibilityMutation CLINVAR The APC p.I1307K polymorphism is a significant risk factor for CRC in average risk Ashkenazi Jews. 23896379 2013
Polyposis, Adenomatous Intestinal
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
0.700 GeneticVariation CLINVAR The APC p.I1307K polymorphism is a significant risk factor for CRC in average risk Ashkenazi Jews. 23896379 2013
Polyposis, Adenomatous Intestinal
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
0.700 GeneticVariation CLINVAR APC polymorphisms and the risk of colorectal neoplasia: a HuGE review and meta-analysis. 23576677 2013
Polyposis, Adenomatous Intestinal
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
0.700 GeneticVariation CLINVAR Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. 22703879 2012
Polyposis, Adenomatous Intestinal
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
0.700 GeneticVariation CLINVAR No evidence of the APC D1822V missense variant's pathogenicity in Tunisian patients with sporadic colorectal cancer. 18343606 2009
Polyposis, Adenomatous Intestinal
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
0.700 GeneticVariation CLINVAR How the I1307K adenomatous polyposis coli gene variant contributes in the assessment of risk of colorectal cancer, but not stomach cancer, in a Turkish population. 17854661 2007
Polyposis, Adenomatous Intestinal
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
0.700 GeneticVariation CLINVAR Colonic adenomas do not cosegregate with the I1307K APC missense mutation in an Israeli non-Ashkenazi family. 15712637 2005
Polyposis, Adenomatous Intestinal
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
0.700 GeneticVariation CLINVAR Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q. 11001924 2000
Polyposis, Adenomatous Intestinal
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
0.700 GeneticVariation CLINVAR The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history. 9724771 1998
Polyposis, Adenomatous Intestinal
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
0.700 SusceptibilityMutation CLINVAR Somatic instability of the APC I1307K allele in colorectal neoplasia. 9751605 1998
Polyposis, Adenomatous Intestinal
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
0.700 GeneticVariation CLINVAR Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. 9288102 1997
Polyposis, Adenomatous Intestinal
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
0.700 SusceptibilityMutation CLINVAR Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. 9288102 1997
Polyposis, Adenomatous Intestinal
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
0.700 CausalMutation CLINVAR