Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 Biomarker MGD

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation BEFREE :The aim of this study was to determine the proportion of patients with familial adenomatous polyposis (FAP) who had mutations in the desmoid region of the adenomatous polyposis coli (APC) gene that phenotypically expresses desmoid disease, and to determine the role for surgery in these patients. 17410559

2007

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation BEFREE Adenomatous polyposis coli (APC) exon 14-skipped transcripts encode putative APC proteins of low molecular weight. 10226605

1999

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation BEFREE Familial adenomatous polyposis (FAP) is a familial form of colon cancer caused by mutation of the adenomatous polyposis coli (APC) gene. 10713886

2000

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation BEFREE Familial Adenomatous Polyposis (FAP) is an autosomal dominant heritable disorder caused by germ-line mutations in the APC gene. 11754114

2002

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation LHGDN Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited predisposition to colorectal cancer, which is caused by germline mutations in the adenomatous polyposis coli (APC) gene. 11933206

2002

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation BEFREE Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited predisposition to colorectal cancer, which is caused by germline mutations in the adenomatous polyposis coli (APC) gene. 11933206

2002

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation BEFREE Familial adenomatous polyposis (FAP) is caused by germline mutations in the APC gene. 12007223

2002

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation BEFREE Familial adenomatous polyposis (FAP) is an autosomal, dominantly inherited predisposition to colorectal cancer caused by germline mutations within the adenomatous polyposis coli (APC) gene, a key member of the Wnt signalling pathway. 12174906

2002

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation BEFREE Familial Adenomatous Polyposis (FAP) results from a germline mutation in the APC gene. 12357334

2002

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation BEFREE Familial adenomatous polyposis (FAP) arises following mutation or loss of the adenomatous polyposis coli (APC) gene. 12445067

2002

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation LHGDN FAP/AAPC is caused by germline mutations in the adenomatous polyposis coli (APC) gene. 14691304

2003

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation BEFREE FAP/AAPC is caused by germline mutations in the adenomatous polyposis coli (APC) gene. 14691304

2003

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation BEFREE Familial adenomatous polyposis (FAP), an autosomal dominantly inherited colorectal cancer predisposition syndrome, displays considerable inter- and intrafamilial phenotypic heterogeneity, which represents a major problem in genetic counselling of APC mutation carriers. 14735163

2004

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 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: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation 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: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 AlteredExpression LHGDN 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: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation BEFREE Familial adenomatous polyposis (FAP) is caused by germline mutations in the tumor suppressor gene APC. 15459959

2004

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation BEFREE FAP is due to mutations in the APC gene. 15660526

2005

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation BEFREE FAP is caused by mutations in the adenomatous polyposis coli (APC) gene. 15684875

2004

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation BEFREE Adenomatous polyposis of the colon is often secondary to an inherited mutation in adenomatous polyposis coli (APC) gene, however, approximately one third of patients have no family history of the disease. 15951963

2005

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation BEFREE Familial adenomatous polyposis (FAP) is a clinically well-defined hereditary disease caused by germline mutations in the adenomatous polyposis coli (APC) gene. 16088911

2005

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation BEFREE Familial adenomatous polyposis represents approximately 1% of all colorectal cancers and is caused by germline mutations in the adenomatous polyposis coli (APC) gene. 16253019

2005

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation BEFREE Familial adenomatous polyposis (FAP) is an autosomal-dominant colorectal cancer syndrome, caused by a germline mutation in the adenomatous polyposis coli (APC) gene, on chromosome 5q21. 16454848

2006

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation BEFREE Familial adenomatous polyposis (FAP) results from germline adenomatous polyposis coli (APC) gene mutations and many affected patients die from colorectal cancers which arise from colorectal polyps. 16478792

2006