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 APC mutation and phenotypic spectrum of Singapore familial adenomatous polyposis patients. 10713886

2000

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 CausalMutation 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 CausalMutation CLINVAR APC mutations are associated with increased bone mineral density in patients with familial adenomatous polyposis. 20564245

2010

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation CLINVAR APC mutations in familial adenomatous polyposis families in the Northwest of England. 9375853

1997

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 GeneticVariation 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 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 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 Attenuated APC alleles produce functional protein from internal translation initiation. 12034871

2002

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation CLINVAR Attenuated APC alleles produce functional protein from internal translation initiation. 12034871

2002

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 Biomarker CTD_human Attenuated familial adenomatous polyposis associated with advanced rectal cancer in a 16-year-old boy: report of a case. 11766074

2001

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

2014

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation CLINVAR Attenuated familial adenomatous polyposis with desmoids caused by an APC mutation. 27081525

2015

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation CLINVAR Broad phenotypic spectrum in familial adenomatous polyposis; from early onset and severe phenotypes to late onset of attenuated polyposis with the first manifestation at age 72. 19036155

2008

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation CLINVAR Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families. 11247896

2001

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation CLINVAR Characteristics of somatic mutation of the adenomatous polyposis coli gene in colorectal tumors. 8187091

1994

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 CausalMutation 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 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 CausalMutation CLINVAR Clinical and genetic characterization of classical forms of familial adenomatous polyposis: a Spanish population study. 20924072

2011

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 GeneticVariation CLINVAR Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families. 18433509

2008

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

2008

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation CLINVAR Clinicopathological features of familial adenomatous polyposis in Korean patients. 27158207

2016