APC, APC regulator of WNT signaling pathway, 324

N. diseases: 95; N. variants: 596
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1801155
rs1801155
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0009402
Disease:
Colorectal Carcinoma 		A 0.800 SusceptibilityMutation CLINVAR The APC p.I1307K polymorphism is a significant risk factor for CRC in average risk Ashkenazi Jews. 23896379 2013
dbSNP: rs1801155
rs1801155
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0009402
Disease:
Colorectal Carcinoma 		A 0.800 SusceptibilityMutation CLINVAR To further address the pathogenic significance of I1307K, we offered both a genetic test and a screening program to individuals considered to be at increased risk for colorectal cancer. 11159880 2001
dbSNP: rs1801155
rs1801155
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0009402
Disease:
Colorectal Carcinoma 		A 0.800 SusceptibilityMutation CLINVAR The I1307K allele was found in 6.1% of unselected Ashkenazi Jews and higher proportions of Ashkenazim with family or personal histories of CRC (ref.2). 9731533 1998
dbSNP: rs1801155
rs1801155
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0009402
Disease:
Colorectal Carcinoma 		A 0.800 SusceptibilityMutation CLINVAR The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history. 9724771 1998
dbSNP: rs1801155
rs1801155
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0009402
Disease:
Colorectal Carcinoma 		A 0.800 SusceptibilityMutation CLINVAR Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. 9288102 1997
dbSNP: rs1801155
rs1801155
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0007102
Disease:
Malignant tumor of colon 		A 0.800 SusceptibilityMutation CLINVAR
dbSNP: rs786201856
rs786201856
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease:
Adenomatous Polyposis Coli 		T 0.730 CausalMutation CLINVAR
dbSNP: rs137854580
rs137854580
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease:
Adenomatous Polyposis Coli 		T 0.720 CausalMutation CLINVAR
dbSNP: rs1801155
rs1801155
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0006142
Disease:
Malignant neoplasm of breast 		A 0.720 SusceptibilityMutation CLINVAR
dbSNP: rs1801155
rs1801155
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C1140680
Disease:
Malignant neoplasm of ovary 		A 0.720 SusceptibilityMutation CLINVAR
dbSNP: rs62619935
rs62619935
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease:
Adenomatous Polyposis Coli 		T 0.720 CausalMutation CLINVAR
dbSNP: rs72541816
rs72541816
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease:
Adenomatous Polyposis Coli 		0.720 GeneticVariation UNIPROT
dbSNP: rs121913224
rs121913224
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease:
Adenomatous Polyposis Coli 		T 0.710 CausalMutation 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
dbSNP: rs397515734
rs397515734
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease:
Adenomatous Polyposis Coli 		T 0.710 CausalMutation CLINVAR Clinical and genetic characterization of classical forms of familial adenomatous polyposis: a Spanish population study. 20924072 2011
dbSNP: rs397515734
rs397515734
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease:
Adenomatous Polyposis Coli 		T 0.710 CausalMutation CLINVAR Mutation analysis of the APC gene in unrelated Korean patients with FAP: four novel mutations with unusual phenotype. 21110124 2011
dbSNP: rs397515734
rs397515734
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease:
Adenomatous Polyposis Coli 		T 0.710 CausalMutation CLINVAR Mutational spectrum of APC and genotype-phenotype correlations in Greek FAP patients. 20649969 2010
dbSNP: rs137854575
rs137854575
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease:
Adenomatous Polyposis Coli 		A 0.710 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
dbSNP: rs137854575
rs137854575
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease:
Adenomatous Polyposis Coli 		A 0.710 CausalMutation CLINVAR APC mutation spectrum of Norwegian familial adenomatous polyposis families: high ratio of novel mutations. 19444466 2009
dbSNP: rs121913224
rs121913224
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease:
Adenomatous Polyposis Coli 		T 0.710 CausalMutation CLINVAR APC gene mutations causing familial adenomatous polyposis in Polish patients. 19029688 2008
dbSNP: rs137854575
rs137854575
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease:
Adenomatous Polyposis Coli 		A 0.710 CausalMutation CLINVAR APC gene mutations causing familial adenomatous polyposis in Polish patients. 19029688 2008
dbSNP: rs137854575
rs137854575
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease:
Adenomatous Polyposis Coli 		A 0.710 CausalMutation CLINVAR Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects. 17411426 2007
dbSNP: rs137854575
rs137854575
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease:
Adenomatous Polyposis Coli 		A 0.710 CausalMutation CLINVAR Cyclooxygenase-2 and platelet-derived growth factor receptors as potential targets in treating aggressive fibromatosis. 17785554 2007
dbSNP: rs397515734
rs397515734
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease:
Adenomatous Polyposis Coli 		T 0.710 CausalMutation CLINVAR Mutational screening of the APC gene in Chilean families with familial adenomatous polyposis: nine novel truncating mutations. 17963004 2007
dbSNP: rs121913224
rs121913224
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease:
Adenomatous Polyposis Coli 		T 0.710 CausalMutation CLINVAR Singapore familial adenomatous polyposis (FAP) patients with classical adenomatous polyposis but undetectable APC mutations have accelerated cancer progression. 17026565 2006
dbSNP: rs121913224
rs121913224
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease:
Adenomatous Polyposis Coli 		T 0.710 CausalMutation CLINVAR Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients. 20223039 2005