Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 324
Gene Symbol: APC
APC 		0.110 GeneticVariation group CLINVAR Molecular basis for the recognition of adenomatous polyposis coli by the Discs Large 1 protein. 21858148 2011
Entrez Id: 324
Gene Symbol: APC
APC 		0.110 GeneticVariation group 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 		0.110 GeneticVariation group CLINVAR Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients. 20223039 2005
Entrez Id: 324
Gene Symbol: APC
APC 		0.110 CausalMutation group CLINVAR Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. 24728327 2014
Entrez Id: 324
Gene Symbol: APC
APC 		0.110 CausalMutation group CLINVAR Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families. 18433509 2008
Entrez Id: 324
Gene Symbol: APC
APC 		0.110 CausalMutation group CLINVAR Inherited colorectal polyposis and cancer risk of the APC I1307K polymorphism. 9973276 1999
Entrez Id: 324
Gene Symbol: APC
APC 		0.110 CausalMutation group CLINVAR Molecular basis for the recognition of adenomatous polyposis coli by the Discs Large 1 protein. 21858148 2011
Entrez Id: 324
Gene Symbol: APC
APC 		0.110 GeneticVariation group 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 		0.110 CausalMutation group CLINVAR Genomic rearrangements of the APC tumor-suppressor gene in familial adenomatous polyposis. 10982189 2000
Entrez Id: 324
Gene Symbol: APC
APC 		0.110 CausalMutation group CLINVAR Combined molecular and clinical approaches for the identification of families with familial adenomatous polyposis coli. 10077047 1999
Entrez Id: 324
Gene Symbol: APC
APC 		0.110 CausalMutation group CLINVAR A nonsense mutation in exon 8 of the APC gene (Arg283Ter) causes clinically variable FAP in a Malaysian Chinese family. 12901799 2003
Entrez Id: 324
Gene Symbol: APC
APC 		0.110 GeneticVariation group CLINVAR Structure of the human discs large 1 PDZ2- adenomatous polyposis coli cytoskeletal polarity complex: insight into peptide engagement and PDZ clustering. 23185543 2012
Entrez Id: 324
Gene Symbol: APC
APC 		0.110 CausalMutation group CLINVAR Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP). 17486639 2007
Entrez Id: 324
Gene Symbol: APC
APC 		0.110 CausalMutation group CLINVAR Fatal extraintestinal adrenal malignancy in a 12-year-old girl with familial adenomatous polyposis. 23575299 2014
Entrez Id: 324
Gene Symbol: APC
APC 		0.110 CausalMutation group CLINVAR Genotype-phenotype correlations in attenuated adenomatous polyposis coli. 9585611 1998
Entrez Id: 324
Gene Symbol: APC
APC 		0.110 CausalMutation group CLINVAR Familial adenomatous polyposis-associated and sporadic pyloric gland adenomas of the upper gastrointestinal tract share common genetic features. 25832318 2015
Entrez Id: 324
Gene Symbol: APC
APC 		0.110 CausalMutation group CLINVAR Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q. 11001924 2000
Entrez Id: 324
Gene Symbol: APC
APC 		0.110 CausalMutation group CLINVAR Detection of five new mutations in the APC gene using denaturing high-performance liquid chromatography. 12702169 2003
Entrez Id: 324
Gene Symbol: APC
APC 		0.110 CausalMutation group CLINVAR Serrated adenoma in familial adenomatous polyposis: relation to germline APC gene mutation. 11839722 2002
Entrez Id: 324
Gene Symbol: APC
APC 		0.110 GeneticVariation group CLINVAR APC gene mutations causing familial adenomatous polyposis in Polish patients. 19029688 2008
Entrez Id: 324
Gene Symbol: APC
APC 		0.110 CausalMutation group CLINVAR A novel 3' mutation in the APC gene in a family presenting with a desmoid tumour. 11768389 2001
Entrez Id: 324
Gene Symbol: APC
APC 		0.110 CausalMutation group CLINVAR Duodenal adenomatosis in Japanese patients with familial adenomatous polyposis. 24750145 2014
Entrez Id: 324
Gene Symbol: APC
APC 		0.110 GeneticVariation group 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 		0.110 CausalMutation group CLINVAR Clinical characterization and mutation spectrum in Hispanic families with adenomatous polyposis syndromes. 23460355 2013
Entrez Id: 324
Gene Symbol: APC
APC 		0.110 CausalMutation group CLINVAR Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects. 17411426 2007