Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 324
Gene Symbol: APC
APC
0.400 GeneticVariation disease BEFREE Adenomatous polyps of the appendix frequently had APC, KRAS and TP53 mutations and were morphologically and molecularly similar to adenomatous polyps of the colorectum. 31111538 2019
Entrez Id: 324
Gene Symbol: APC
APC
0.400 GeneticVariation disease BEFREE This is the first identification of KRAS and APC gene mutations in adenomatous polyps involving the female lower genital tract. 30383609 2019
Entrez Id: 324
Gene Symbol: APC
APC
0.400 GeneticVariation disease BEFREE Germline mutations in the adenomatous polyposis coli (APC) gene cause familial adenomatous polyposis (FAP), an autosomal dominant disease characterized by hundreds to thousands of adenomatous polyps in the colon and rectum, with progression to colorectal cancer. 18406876 2008
Entrez Id: 324
Gene Symbol: APC
APC
0.400 GeneticVariation disease LHGDN Our findings support an important role for germ-line allele sequence in the APC gene and individual risk of metachronous adenomatous polyps. 18632657 2008
Entrez Id: 324
Gene Symbol: APC
APC
0.400 GeneticVariation disease BEFREE Our findings support an important role for germ-line allele sequence in the APC gene and individual risk of metachronous adenomatous polyps. 18632657 2008
Entrez Id: 324
Gene Symbol: APC
APC
0.400 GeneticVariation disease BEFREE Chromosomal instability in MYH- and APC-mutant adenomatous polyps. 16510566 2006
Entrez Id: 324
Gene Symbol: APC
APC
0.400 GeneticVariation disease BEFREE Biallelic mutations for Y165C and/or G382D were not found in any of those undergoing screening colonoscopy with 0-3 polyps (n = 400), in those APC-negative patients with <20 adenomatous polyps (n = 26), or in those with CRC who were older than 50 years (n = 328). 15236166 2004
Entrez Id: 324
Gene Symbol: APC
APC
0.400 GeneticVariation disease BEFREE Using real-time quantitative PCR, we demonstrated that several genes previously implicated in human colon cancer undergo altered expression in the APC(min) mouse adenomatous polyp, a precursor of cancer, as well as in normal-appearing surrounding mucosa. 15150130 2004
Entrez Id: 324
Gene Symbol: APC
APC
0.400 GeneticVariation disease BEFREE In this study, we have confirmed and refined the LOH-associated region in colorectal FAP: allelic loss in adenomatous polyps tended to occur when the germline mutation lay in the region of the APC gene between the first and second beta-catenin degradation repeats (codons 1285-1378). 12833148 2003
Entrez Id: 324
Gene Symbol: APC
APC
0.400 Biomarker disease CTD_human Pronounced reduction in adenoma recurrence associated with aspirin use and a polymorphism in the ornithine decarboxylase gene. 12810952 2003
Entrez Id: 324
Gene Symbol: APC
APC
0.400 GeneticVariation disease BEFREE The germ-line missense variant of the APC gene, E1317Q, has been proposed to confer a risk for colonic adenomatous polyps (adenomas), but not for CRCs in the general population. 14578138 2003
Entrez Id: 324
Gene Symbol: APC
APC
0.400 AlteredExpression disease BEFREE Our results suggest chromosomal aberrations contribute early to the progression of adenomatous polyps after biallelic APC inactivation. 14502807 2003
Entrez Id: 324
Gene Symbol: APC
APC
0.400 GeneticVariation disease BEFREE This last mutation occurs in the EB1-binding domain of the APC protein and segregates in four relatives of the patient with three of them presenting 2-3 adenomatous polyps. 11317365 2001
Entrez Id: 324
Gene Symbol: APC
APC
0.400 GeneticVariation disease BEFREE Among the genetic defects associated with CRC, the APC I1307K mutation has been detected nearly exclusively in individuals of Ashkenazi Jewish (AJ) origin, occurring in 6%-7% of the AJ general population and in 10%-28% of AJ with a either a personal or family history of CRC or adenomatous polyps. 11354631 2001
Entrez Id: 324
Gene Symbol: APC
APC
0.400 GeneticVariation disease BEFREE The frequency of the APC I1307K mutation is elevated in Ashkenazi Jewish patients with adenomatous polyps, but not hyperplastic polyps. 10938175 2000
Entrez Id: 324
Gene Symbol: APC
APC
0.400 GeneticVariation disease BEFREE Germline mutations (nonsense, frameshift) of APC are associated with familial adenomatous polyposis, an autosomal dominant syndrome, clinically characterized by young onset, hundreds of adenomatous polyps in the colon, and increased risk for extracolonic tumors. 10630180 1999
Entrez Id: 324
Gene Symbol: APC
APC
0.400 Biomarker disease BEFREE The observation that the attenuated form of adenomatous polyposis coli (AAPC) has a different mutational spectrum in both the adenomatous polyp and the carcinoma than the classical form of APC has led to the hypothesis that AAPC alleles retain some residual APC activity associated with a greatly reduced number of polyps. 10545697 1999
Entrez Id: 324
Gene Symbol: APC
APC
0.400 GeneticVariation disease BEFREE Furthermore, the adenomatous polyposis coli (APC) gene on Chr 5, mutated somatically in adenomatous polyps and mutated in the germline of patients with familial adenomatous polyposis, is not linked to hereditary juvenile polyposis. 9182775 1997
Entrez Id: 324
Gene Symbol: APC
APC
0.400 GeneticVariation disease BEFREE Desmoid tumors are usually a complication of familial adenomatous polyposis, a predisposition to the early development of premalignant adenomatous polyps in the colorectum due to chain-terminating mutations of the APC gene. 8940264 1996
Entrez Id: 324
Gene Symbol: APC
APC
0.400 GeneticVariation disease BEFREE Since some gastric cancers are considered to originate from the intestinal metaplasia, it is likely that the adenomatous polyposis coli (APC) gene, the mutation of which causes adenomatous polyps in the colon, is associated with carcinogenesis of gastric cancer. 1317264 1992