rs137854573, APC

N. diseases: 10
Disease: Polyposis, Adenomatous Intestinal ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Polyposis, Adenomatous Intestinal
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
0.700 CausalMutation CLINVAR Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases. 26613750 2016
Polyposis, Adenomatous Intestinal
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
0.700 CausalMutation CLINVAR Clinical and genetic characterization of classical forms of familial adenomatous polyposis: a Spanish population study. 20924072 2011
Polyposis, Adenomatous Intestinal
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
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
Polyposis, Adenomatous Intestinal
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
0.700 CausalMutation CLINVAR A comparison of the phenotype and genotype in adenomatous polyposis patients with and without a family history. 15951963 2005
Polyposis, Adenomatous Intestinal
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
0.700 CausalMutation CLINVAR Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients. 20223039 2005
Polyposis, Adenomatous Intestinal
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
0.700 CausalMutation CLINVAR Mutation analysis of the adenomatous polyposis coli (APC) gene in Danish patients with familial adenomatous polyposis (FAP). 15108286 2004
Polyposis, Adenomatous Intestinal
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
0.700 CausalMutation CLINVAR De novo mutations in familial adenomatous polyposis (FAP). 12357334 2002
Polyposis, Adenomatous Intestinal
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
0.700 CausalMutation CLINVAR Eight novel inactivating germ line mutations at the APC gene identified by denaturing gradient gel electrophoresis. 1324223 1992