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: rs1060503326
rs1060503326
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: rs1060503326
rs1060503326
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: rs1060503326
rs1060503326
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: rs1060503326
rs1060503326
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: rs1060503326
rs1060503326
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		A 0.700 CausalMutation CLINVAR Three novel germline mutations in the adenomatous polyposis coli gene. 9067764 1997
dbSNP: rs1060503326
rs1060503326
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: rs1060503326
rs1060503326
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		A 0.700 CausalMutation CLINVAR Genetic counselling and gene mutation analysis in familial adenomatous polyposis in Western Australia. 7746201 1995
dbSNP: rs1060503326
rs1060503326
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		A 0.700 CausalMutation CLINVAR Physiological mechanisms of pregnancy recognition in ruminants. 1843350 1991