Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 84142
Gene Symbol: ABRAXAS1
ABRAXAS1 		0.100 CausalMutation group CLINVAR
Entrez Id: 324
Gene Symbol: APC
APC 		0.110 CausalMutation group CLINVAR Mutational spectrum of the APC and MUTYH genes and genotype-phenotype correlations in Brazilian FAP, AFAP, and MAP patients. 23561487 2013
Entrez Id: 324
Gene Symbol: APC
APC 		0.110 CausalMutation group CLINVAR Identical APC exon 15 mutations result in a variable phenotype in familial adenomatous polyposis. 8395941 1993
Entrez Id: 324
Gene Symbol: APC
APC 		0.110 CausalMutation group CLINVAR Frequency of common and novel inactivating APC mutations in 202 families with familial adenomatous polyposis. 8162022 1994
Entrez Id: 324
Gene Symbol: APC
APC 		0.110 CausalMutation group CLINVAR Mutation analysis of the APC gene in Taiwanese FAP families: low incidence of APC germline mutation in a distinct subgroup of FAP families. 19768578 2010
Entrez Id: 324
Gene Symbol: APC
APC 		0.110 CausalMutation group CLINVAR Novel germline mutations in the adenomatous polyposis coli gene in Polish families with familial adenomatous polyposis. 14729851 2004
Entrez Id: 324
Gene Symbol: APC
APC 		0.110 GeneticVariation 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 Messing up disorder: how do missense mutations in the tumor suppressor protein APC lead to cancer? 21859464 2011
Entrez Id: 324
Gene Symbol: APC
APC 		0.110 CausalMutation group CLINVAR Should children at risk for familial adenomatous polyposis be screened for hepatoblastoma and children with apparently sporadic hepatoblastoma be screened for APC germline mutations? 16317745 2006
Entrez Id: 324
Gene Symbol: APC
APC 		0.110 CausalMutation group 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 		0.110 CausalMutation group 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 		0.110 CausalMutation group CLINVAR Phenotypic characteristics associated with the APC gene I1307K mutation in Ashkenazi Jewish patients with colorectal polyps. 10938175 2000
Entrez Id: 324
Gene Symbol: APC
APC 		0.110 CausalMutation group CLINVAR The mutation spectrum of the APC gene in FAP patients from southern Italy: detection of known and four novel mutations. 14961559 2003
Entrez Id: 324
Gene Symbol: APC
APC 		0.110 CausalMutation group CLINVAR APC polymorphisms and the risk of colorectal neoplasia: a HuGE review and meta-analysis. 23576677 2013
Entrez Id: 324
Gene Symbol: APC
APC 		0.110 CausalMutation group CLINVAR Inflammatory bowel disease and familial adenomatous polyposis. 22809634 2013
Entrez Id: 324
Gene Symbol: APC
APC 		0.110 CausalMutation group CLINVAR A survey of APC mutations in Quebec. 21779980 2011
Entrez Id: 324
Gene Symbol: APC
APC 		0.110 CausalMutation group CLINVAR Next-generation sequencing for genetic testing of familial colorectal cancer syndromes. 26300997 2015
Entrez Id: 324
Gene Symbol: APC
APC 		0.110 CausalMutation group CLINVAR Molecular analysis of the APC gene in 71 Israeli families: 17 novel mutations. 12007223 2002
Entrez Id: 324
Gene Symbol: APC
APC 		0.110 CausalMutation group CLINVAR APC mutations in FAP-associated desmoid tumours are non-random but not 'just right'. 17135276 2007
Entrez Id: 324
Gene Symbol: APC
APC 		0.110 CausalMutation group CLINVAR Correlation between the development of extracolonic manifestations in FAP patients and mutations beyond codon 1403 in the APC gene. 8730280 1996
Entrez Id: 324
Gene Symbol: APC
APC 		0.110 CausalMutation group CLINVAR Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary. 26446593 2016
Entrez Id: 324
Gene Symbol: APC
APC 		0.110 CausalMutation group CLINVAR Prevalence of skin lesions in familial adenomatous polyposis: a marker for presymptomatic diagnosis? 22135120 2011
Entrez Id: 324
Gene Symbol: APC
APC 		0.110 CausalMutation group CLINVAR Single cell analysis of mutations in the APC gene. 19828935 2009
Entrez Id: 324
Gene Symbol: APC
APC 		0.110 CausalMutation group CLINVAR [A novel APC gene germline mutation in a familial adenomatous polyposis pedigree]. 16883523 2006
Entrez Id: 324
Gene Symbol: APC
APC 		0.110 CausalMutation group CLINVAR A distinct mutation on the alternative splice site of APC exon 9 results in attenuated familial adenomatous polyposis phenotype. 20033787 2010