Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation CLINVAR Frameshift Mutations (Deletion at Codon 1309 and Codon 849) in the APC Gene in Iranian FAP Patients: a Case Series and Review of the Literature. 25317407

2014

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 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

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation CLINVAR Two Chinese pedigrees for adenomatous polyposis coli: new mutations at codon 1309 and predisposition to phenotypic variations. 24664542

2014

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation CLINVAR A de novo germline mutation of APC for inheritable colon cancer in a Chinese family using multigene next generation sequencing. 24735542

2014

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 GeneticVariation CLINVAR Colorectal tumors from APC*I1307K carriers principally harbor somatic APC mutations outside the A8 tract. 24416237

2014

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation CLINVAR Fatal extraintestinal adrenal malignancy in a 12-year-old girl with familial adenomatous polyposis. 23575299

2014

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 GeneticVariation CLINVAR A unique profile of adenomatous polyposis coli gene mutations in Iranian patients suffering sporadic colorectal cancer. 24518971

2014

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 GeneticVariation CLINVAR Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. 24728327

2014

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation CLINVAR The UMD-APC database, a model of nation-wide knowledge base: update with data from 3,581 variations. 24599579

2014

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 Biomarker CTD_human Resveratrol prevents tumorigenesis in mouse model of Kras activated sporadic colorectal cancer by suppressing oncogenic Kras expression. 25280562

2014

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 Biomarker CTD_human The concentrations of EGFR, LRG1, ITIH4, and F5 in serum correlate with the number of colonic adenomas in ApcPirc/+ rats. 25200834

2014

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 GeneticVariation CLINVAR APC germline mutations in individuals being evaluated for familial adenomatous polyposis: a review of the Mayo Clinic experience with 1591 consecutive tests. 23159591

2013

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation CLINVAR Different APC genotypes in proximal and distal sporadic colorectal cancers suggest distinct WNT/β-catenin signalling thresholds for tumourigenesis. 23085758

2013

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 SusceptibilityMutation CLINVAR The APC p.I1307K polymorphism is a significant risk factor for CRC in average risk Ashkenazi Jews. 23896379

2013

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 GeneticVariation CLINVAR The APC p.I1307K polymorphism is a significant risk factor for CRC in average risk Ashkenazi Jews. 23896379

2013

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation CLINVAR Multifocal hepatic neoplasia in 3 children with APC gene mutation. 23715166

2013

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation CLINVAR Mutational spectrum of the APC and MUTYH genes and genotype-phenotype correlations in Brazilian FAP, AFAP, and MAP patients. 23561487

2013

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 GeneticVariation CLINVAR Novel mutations of the APC gene and genetic consequences of splicing mutations in the Czech FAP families. 22987206

2013

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 GeneticVariation CLINVAR APC polymorphisms and the risk of colorectal neoplasia: a HuGE review and meta-analysis. 23576677

2013

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation CLINVAR APC germline mutations in individuals being evaluated for familial adenomatous polyposis: a review of the Mayo Clinic experience with 1591 consecutive tests. 23159591

2013

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation CLINVAR Novel mutations of the APC gene and genetic consequences of splicing mutations in the Czech FAP families. 22987206

2013

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation CLINVAR Clinical characterization and mutation spectrum in Hispanic families with adenomatous polyposis syndromes. 23460355

2013

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 SusceptibilityMutation CLINVAR APC polymorphisms and the risk of colorectal neoplasia: a HuGE review and meta-analysis. 23576677

2013

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 GeneticVariation CLINVAR Deep intronic APC mutations explain a substantial proportion of patients with familial or early-onset adenomatous polyposis. 22431159

2012

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation CLINVAR Colon cancer prevention by detection of APC gene mutation in a family with attenuated familial adenomatous polyposis. 23244118

2012