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: rs1554086030
rs1554086030
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		C 0.700 CausalMutation CLINVAR Inactivation of promoter 1B of APC causes partial gene silencing: evidence for a significant role of the promoter in regulation and causative of familial adenomatous polyposis. 21643010 2011
dbSNP: rs1554086030
rs1554086030
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		C 0.700 CausalMutation CLINVAR Prevalence of skin lesions in familial adenomatous polyposis: a marker for presymptomatic diagnosis? 22135120 2011
dbSNP: rs1554086030
rs1554086030
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		C 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: rs1554086030
rs1554086030
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		C 0.700 CausalMutation CLINVAR Regulated binding of adenomatous polyposis coli protein to actin. 17293347 2007
dbSNP: rs1554086030
rs1554086030
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		C 0.700 CausalMutation CLINVAR EB1 and APC bind to mDia to stabilize microtubules downstream of Rho and promote cell migration. 15311282 2004
dbSNP: rs1554086030
rs1554086030
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		C 0.700 CausalMutation CLINVAR Mutation analysis of the adenomatous polyposis coli (APC) gene in Danish patients with familial adenomatous polyposis (FAP). 15108286 2004
dbSNP: rs1554086030
rs1554086030
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		C 0.700 CausalMutation CLINVAR Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q. 11001924 2000
dbSNP: rs1554086030
rs1554086030
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		C 0.700 CausalMutation CLINVAR Variable phenotype of familial adenomatous polyposis in pedigrees with 3' mutation in the APC gene. 9824584 1998
dbSNP: rs1554086030
rs1554086030
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		C 0.700 CausalMutation CLINVAR Mutational analysis of patients with adenomatous polyposis: identical inactivating mutations in unrelated individuals. 8381579 1993
dbSNP: rs1554086030
rs1554086030
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		C 0.700 CausalMutation CLINVAR Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients. 1316610 1992