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: rs1057517558
rs1057517558
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		T 0.700 CausalMutation CLINVAR Presence of c.3956delC mutation in familial adenomatous polyposis patients from Brazil. 26309368 2015
dbSNP: rs1057517558
rs1057517558
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: rs1057517558
rs1057517558
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		T 0.700 CausalMutation CLINVAR Eleven novel APC mutations identified in Portuguese FAP families. 10923044 2000
dbSNP: rs1057517558
rs1057517558
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		T 0.700 CausalMutation CLINVAR Characteristics of somatic mutation of the adenomatous polyposis coli gene in colorectal tumors. 8187091 1994