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 Should children at risk for familial adenomatous polyposis be screened for hepatoblastoma and children with apparently sporadic hepatoblastoma be screened for APC germline mutations? 16317745

2006

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation CLINVAR Age- and Gender-Specific Risk of Thyroid Cancer in Patients With Familial Adenomatous Polyposis. 27623068

2016

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation CLINVAR Detection of sequence variations in the adenomatous polyposis coli (APC) gene using denaturing high-performance liquid chromatography. 11960572

2001

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation CLINVAR A comparison of the phenotype and genotype in adenomatous polyposis patients with and without a family history. 15951963

2005

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 GeneticVariation CLINVAR Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects. 17411426

2007

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation CLINVAR First genotype characterization of Argentinean FAP patients: identification of 14 novel APC mutations. 15108288

2004

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation CLINVAR Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene. 15459959

2004

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation CLINVAR The APC (adenomatous polyposis coli) gene: a novel mutation in an FAP patient and a DdeI polymorphism in the 5' noncoding region. 8103406

1993

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 Biomarker CTD_human Adenomatous polyposis coli and a cytogenetic deletion of chromosome 5 resulting from a maternal intrachromosomal insertion. 8071957

1994

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation CLINVAR Difference in characteristics of APC mutations between colonic and extracolonic tumors of FAP patients: variations with phenotype. 18224684

2008

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation CLINVAR Screening for germ-line mutations in familial adenomatous polyposis patients: 61 new patients and a summary of 150 unrelated patients. 1338764

1992

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation CLINVAR Variable phenotype of familial adenomatous polyposis in pedigrees with 3' mutation in the APC gene. 9824584

1998

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation CLINVAR Simple, rapid, and accurate determination of deletion mutations by automated DNA sequencing of heteroduplex fragments of the adenomatous polyposis coli (APC) gene generated by PCR amplification. 8111416

1993

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation CLINVAR APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas. 19793053

2009

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation CLINVAR Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli. 16134147

2005

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 GeneticVariation CLINVAR APC mutation spectrum of Norwegian familial adenomatous polyposis families: high ratio of novel mutations. 19444466

2009

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 GeneticVariation CLINVAR Characterization of 19 novel and six recurring APC mutations in Italian adenomatous polyposis patients, using two different mutation detection techniques. 9101302

1997

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 GeneticVariation CLINVAR Mutational screening of the APC gene in Chilean families with familial adenomatous polyposis: nine novel truncating mutations. 17963004

2007

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 SusceptibilityMutation CLINVAR Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. 9288102

1997

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

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 GeneticVariation CLINVAR Germ-line mutations in the first 14 exons of the adenomatous polyposis coli (APC) gene. 8381580

1993

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 Biomarker CTD_human Chemoprevention of familial adenomatous polyposis by natural dietary compounds sulforaphane and dibenzoylmethane alone and in combination in ApcMin/+ mouse. 17942926

2007

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 Molecular analysis of the APC gene in 71 Israeli families: 17 novel mutations. 12007223

2002

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 GeneticVariation CLINVAR Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families. 18433509

2008