rs587783031, APC

N. diseases: 7
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Duodenal adenomatosis in Japanese patients with familial adenomatous polyposis. 24750145 2014
Adenomatous Polyposis Coli
CUI: C0032580
Disease: Adenomatous Polyposis Coli
0.700 CausalMutation CLINVAR Unexplained polyposis: a challenge for geneticists, pathologists and gastroenterologists. 21476993 2012
Polyposis, Adenomatous Intestinal
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
0.700 CausalMutation CLINVAR A survey of APC mutations in Quebec. 21779980 2011
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Clinical and genetic characterization of classical forms of familial adenomatous polyposis: a Spanish population study. 20924072 2011
Adenomatous Polyposis Coli
CUI: C0032580
Disease: Adenomatous Polyposis Coli
0.700 CausalMutation CLINVAR A survey of APC mutations in Quebec. 21779980 2011
Polyposis, Adenomatous Intestinal
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
0.700 CausalMutation CLINVAR Regulated binding of adenomatous polyposis coli protein to actin. 17293347 2007
Adenomatous Polyposis Coli
CUI: C0032580
Disease: Adenomatous Polyposis Coli
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 EB1 and APC bind to mDia to stabilize microtubules downstream of Rho and promote cell migration. 15311282 2004
Adenomatous Polyposis Coli
CUI: C0032580
Disease: Adenomatous Polyposis Coli
0.700 CausalMutation CLINVAR A case of Gardner syndrome with a mutation at codon 1556 of APC: a suggested case of genotype-phenotype correlation in dental abnormality. 15095859 2004
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Characterization of 19 novel and six recurring APC mutations in Italian adenomatous polyposis patients, using two different mutation detection techniques. 9101302 1997
Neurofibromatoses
CUI: C0162678
Disease: Neurofibromatoses
0.700 CausalMutation CLINVAR
Polyposis, Gastric
CUI: C0236048
Disease: Polyposis, Gastric
0.700 CausalMutation CLINVAR
Adenocarcinoma of duodenum
CUI: C0278804
Disease: Adenocarcinoma of duodenum
0.700 CausalMutation CLINVAR
Adenomatous colonic polyposis
CUI: C1868071
Disease: Adenomatous colonic polyposis
0.700 CausalMutation CLINVAR