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: rs876658667
rs876658667
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		A 0.700 CausalMutation CLINVAR Mutation analysis of the APC gene in unrelated Korean patients with FAP: four novel mutations with unusual phenotype. 21110124 2011
dbSNP: rs876658667
rs876658667
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		A 0.700 CausalMutation CLINVAR Clinical and genetic characterization of classical forms of familial adenomatous polyposis: a Spanish population study. 20924072 2011
dbSNP: rs876658667
rs876658667
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		A 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: rs876658667
rs876658667
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		A 0.700 CausalMutation CLINVAR Regulated binding of adenomatous polyposis coli protein to actin. 17293347 2007
dbSNP: rs876658667
rs876658667
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		A 0.700 CausalMutation CLINVAR Founder mutation in familial adenomatous polyposis (FAP) in the Balearic Islands. 15771908 2005
dbSNP: rs876658667
rs876658667
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		A 0.700 CausalMutation CLINVAR Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients. 20223039 2005
dbSNP: rs876658667
rs876658667
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		A 0.700 CausalMutation CLINVAR EB1 and APC bind to mDia to stabilize microtubules downstream of Rho and promote cell migration. 15311282 2004
dbSNP: rs876658667
rs876658667
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		A 0.700 CausalMutation CLINVAR Genetic and clinical characterisation of familial adenomatous polyposis: a population based study. 12010888 2002
dbSNP: rs876658667
rs876658667
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		A 0.700 CausalMutation CLINVAR Molecular analysis of the APC gene in 205 families: extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition. 9950360 1999
dbSNP: rs876658667
rs876658667
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		A 0.700 CausalMutation CLINVAR Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germline mutations identified by DGGE, PTT, and southern analysis. 8990002 1997
dbSNP: rs876658667
rs876658667
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		A 0.700 CausalMutation CLINVAR Correlation between the development of extracolonic manifestations in FAP patients and mutations beyond codon 1403 in the APC gene. 8730280 1996
dbSNP: rs876658667
rs876658667
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		A 0.700 CausalMutation CLINVAR Frequency of common and novel inactivating APC mutations in 202 families with familial adenomatous polyposis. 8162022 1994
dbSNP: rs876658667
rs876658667
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		A 0.700 CausalMutation CLINVAR The APC (adenomatous polyposis coli) gene: a novel mutation in an FAP patient and a DdeI polymorphism in the 5' noncoding region. 8103406 1993
dbSNP: rs876658667
rs876658667
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		A 0.700 CausalMutation CLINVAR Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients. 1316610 1992