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 GeneticVariation CLINVAR Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. 22703879

2012

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation CLINVAR Familial multiple pilomatrixomas as a presentation of attenuated adenomatosis polyposis coli. 22150579

2012

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation CLINVAR [A family with attenuated familial adenomatous polyposis identified because of fundic gland polyposis]. 21646762

2011

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 Prevalence of skin lesions in familial adenomatous polyposis: a marker for presymptomatic diagnosis? 22135120

2011

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation CLINVAR Mutation analysis of the APC gene in unrelated Korean patients with FAP: four novel mutations with unusual phenotype. 21110124

2011

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation CLINVAR A survey of APC mutations in Quebec. 21779980

2011

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation CLINVAR Mutation Analysis of the APC Gene in a Chinese FAP Pedigree with Unusual Phenotype. 22164339

2011

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation CLINVAR Inactivation of promoter 1B of APC causes partial gene silencing: evidence for a significant role of the promoter in regulation and causative of familial adenomatous polyposis. 21643010

2011

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 GeneticVariation CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333

2011

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation CLINVAR Allele-specific expression of APC in adenomatous polyposis families. 20434453

2010

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 GeneticVariation CLINVAR Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP. 20685668

2010

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation CLINVAR Three novel mutations of the APC gene in Korean patients with familial adenomatous polyposis. 20513532

2010

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 A distinct mutation on the alternative splice site of APC exon 9 results in attenuated familial adenomatous polyposis phenotype. 20033787

2010

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation CLINVAR Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP. 20685668

2010

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation CLINVAR APC gene mutations in Chinese familial adenomatous polyposis patients. 20333795

2010

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation CLINVAR Mutational spectrum of APC and genotype-phenotype correlations in Greek FAP patients. 20649969

2010

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 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 Biomarker CTD_human Identification of somatic APC mutations in recurrent desmoid tumors in a patient with familial adenomatous polyposis to determine actual recurrence of the original tumor or de novo occurrence. 18704758

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 GeneticVariation CLINVAR Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review. 19196998

2009

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 and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations? 19531215

2009

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 GeneticVariation CLINVAR No evidence of the APC D1822V missense variant's pathogenicity in Tunisian patients with sporadic colorectal cancer. 18343606

2009