APC, APC regulator of WNT signaling pathway, 324

N. diseases: 95; N. variants: 596
Disease: Polyposis, Adenomatous Intestinal ×
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs62619935
rs62619935
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: rs62619935
rs62619935
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		T 0.700 CausalMutation 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
dbSNP: rs62619935
rs62619935
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		T 0.700 CausalMutation CLINVAR Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations? 19531215 2009
dbSNP: rs62619935
rs62619935
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		T 0.700 CausalMutation CLINVAR Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects. 17411426 2007
dbSNP: rs62619935
rs62619935
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: rs62619935
rs62619935
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		T 0.700 CausalMutation CLINVAR Mutation analysis of the adenomatous polyposis coli (APC) gene in Danish patients with familial adenomatous polyposis (FAP). 15108286 2004
dbSNP: rs62619935
rs62619935
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		T 0.700 CausalMutation CLINVAR The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: a new facet to Knudson's 'two-hit' hypothesis. 10470088 1999