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
0.800 GeneticVariation CLINVAR The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 28349240

2017

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.800 Biomarker CTD_human Transforming activity and therapeutic targeting of C-terminal-binding protein 2 in Apc-mutated neoplasia. 28414304

2017

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.800 GeneticVariation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.800 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.800 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2017

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.800 CausalMutation CLINVAR Racial variation in frequency and phenotypes of APC and MUTYH mutations in 6,169 individuals undergoing genetic testing. 25590978

2016

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.800 CausalMutation CLINVAR Presence of c.3956delC mutation in familial adenomatous polyposis patients from Brazil. 26309368

2016

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.800 GeneticVariation CLINVAR Racial variation in frequency and phenotypes of APC and MUTYH mutations in 6,169 individuals undergoing genetic testing. 25590978

2016

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.800 CausalMutation CLINVAR Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary. 26446593

2016

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.800 CausalMutation CLINVAR Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases. 26613750

2016

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.800 Biomarker MGD TNIK inhibition abrogates colorectal cancer stemness. 27562646

2016

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.800 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

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.800 CausalMutation CLINVAR High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations. 25604157

2016

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

2015

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

2015

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.800 CausalMutation CLINVAR Attenuated familial adenomatous polyposis manifests as autosomal dominant late-onset colorectal cancer. 24549056

2015

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

2015

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.800 GeneticVariation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754

2015

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.800 CausalMutation CLINVAR Next-generation sequencing for genetic testing of familial colorectal cancer syndromes. 26300997

2015

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.800 CausalMutation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754

2015

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.800 CausalMutation CLINVAR Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing. 25559809

2015

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.800 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.800 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
0.800 CausalMutation CLINVAR Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function. 23891399

2014

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

2014