APC, APC regulator of WNT signaling pathway, 324

N. diseases: 703; N. variants: 681
Disease: Polyposis, Adenomatous Intestinal ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913224
rs121913224
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		T 0.700 CausalMutation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754 2015
dbSNP: rs121913224
rs121913224
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		T 0.700 CausalMutation CLINVAR Frameshift Mutations (Deletion at Codon 1309 and Codon 849) in the APC Gene in Iranian FAP Patients: a Case Series and Review of the Literature. 25317407 2014
dbSNP: rs121913224
rs121913224
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		T 0.700 CausalMutation CLINVAR Two Chinese pedigrees for adenomatous polyposis coli: new mutations at codon 1309 and predisposition to phenotypic variations. 24664542 2014
dbSNP: rs121913224
rs121913224
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		T 0.700 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: rs121913224
rs121913224
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		T 0.700 CausalMutation CLINVAR Mutational spectrum of the APC and MUTYH genes and genotype-phenotype correlations in Brazilian FAP, AFAP, and MAP patients. 23561487 2013
dbSNP: rs121913224
rs121913224
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		T 0.700 CausalMutation CLINVAR Allele-specific expression of APC in adenomatous polyposis families. 20434453 2010
dbSNP: rs121913224
rs121913224
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		T 0.700 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: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		T 0.700 CausalMutation CLINVAR Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients. 20223039 2005
dbSNP: rs121913224
rs121913224
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		T 0.700 CausalMutation CLINVAR Mutation spectrum of the APC gene in 83 Korean FAP families. 16088911 2005
dbSNP: rs121913224
rs121913224
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		T 0.700 CausalMutation CLINVAR Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families. 11247896 2001
dbSNP: rs121913224
rs121913224
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		T 0.700 CausalMutation CLINVAR Hereditary desmoid disease due to a frameshift mutation at codon 1924 of the APC gene. 8940264 1996
dbSNP: rs121913224
rs121913224
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		T 0.700 CausalMutation CLINVAR Identical APC exon 15 mutations result in a variable phenotype in familial adenomatous polyposis. 8395941 1993
dbSNP: rs121913224
rs121913224
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		T 0.700 CausalMutation CLINVAR Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients. 1316610 1992
dbSNP: rs121913224
rs121913224
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		T 0.700 GeneticVariation CLINVAR