Gene: APC ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 324
Gene Symbol: APC
APC 		0.400 GeneticVariation disease CLINVAR Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects. 17411426 2007
Entrez Id: 324
Gene Symbol: APC
APC 		0.400 GeneticVariation disease CLINVAR APC mutation spectrum of Norwegian familial adenomatous polyposis families: high ratio of novel mutations. 19444466 2009
Entrez Id: 324
Gene Symbol: APC
APC 		0.400 GeneticVariation disease 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 		0.400 GeneticVariation disease 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 		0.400 GeneticVariation disease 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 		0.400 GeneticVariation disease 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 		0.400 GeneticVariation disease 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 		0.400 GeneticVariation disease CLINVAR Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families. 18433509 2008
Entrez Id: 324
Gene Symbol: APC
APC 		0.400 GeneticVariation disease CLINVAR APC germline mutations in individuals being evaluated for familial adenomatous polyposis: a review of the Mayo Clinic experience with 1591 consecutive tests. 23159591 2013
Entrez Id: 324
Gene Symbol: APC
APC 		0.400 GeneticVariation disease CLINVAR Colonic interposition in a woman with attenuated familial adenomatosis polyposis: does the location of the colon affect polyp formation? 18629394 2008
Entrez Id: 324
Gene Symbol: APC
APC 		0.400 GeneticVariation disease CLINVAR Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis. 17489848 2007
Entrez Id: 324
Gene Symbol: APC
APC 		0.400 GeneticVariation disease 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 		0.400 GeneticVariation disease 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 		0.400 GeneticVariation disease CLINVAR Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients. 20223039 2005
Entrez Id: 324
Gene Symbol: APC
APC 		0.400 GeneticVariation disease CLINVAR Mutational analysis of the APC gene in cribriform-morula variant of papillary thyroid carcinoma. 16680592 2006
Entrez Id: 324
Gene Symbol: APC
APC 		0.400 GeneticVariation disease 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 		0.400 GeneticVariation disease CLINVAR Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. 9288102 1997
Entrez Id: 324
Gene Symbol: APC
APC 		0.400 GeneticVariation disease CLINVAR The UMD-APC database, a model of nation-wide knowledge base: update with data from 3,581 variations. 24599579 2014
Entrez Id: 324
Gene Symbol: APC
APC 		0.400 GeneticVariation disease CLINVAR The APC p.I1307K polymorphism is a significant risk factor for CRC in average risk Ashkenazi Jews. 23896379 2013
Entrez Id: 324
Gene Symbol: APC
APC 		0.400 GeneticVariation disease CLINVAR Colonic adenomas do not cosegregate with the I1307K APC missense mutation in an Israeli non-Ashkenazi family. 15712637 2005
Entrez Id: 324
Gene Symbol: APC
APC 		0.400 GeneticVariation disease CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333 2011
Entrez Id: 324
Gene Symbol: APC
APC 		0.400 GeneticVariation disease CLINVAR A novel exon duplication event leading to a truncating germ-line mutation of the APC gene in a familial adenomatous polyposis family. 16736293 2006
Entrez Id: 324
Gene Symbol: APC
APC 		0.400 GeneticVariation disease CLINVAR Four novel germline mutations of the APC gene. 8844222 1996
Entrez Id: 324
Gene Symbol: APC
APC 		0.400 GeneticVariation disease 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 		0.400 GeneticVariation disease CLINVAR Novel mutations of the APC gene and genetic consequences of splicing mutations in the Czech FAP families. 22987206 2013