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 Attenuated familial adenomatous polyposis with desmoids caused by an APC mutation. 27081525 2015
Polyposis, Adenomatous Intestinal
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
0.700 CausalMutation CLINVAR Prevalence of skin lesions in familial adenomatous polyposis: a marker for presymptomatic diagnosis? 22135120 2011
Polyposis, Adenomatous Intestinal
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
0.700 CausalMutation CLINVAR Variable phenotype of familial adenomatous polyposis in pedigrees with 3' mutation in the APC gene. 9824584 1998
Polyposis, Adenomatous Intestinal
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
0.700 CausalMutation CLINVAR Mutational analysis of patients with adenomatous polyposis: identical inactivating mutations in unrelated individuals. 8381579 1993
Polyposis, Adenomatous Intestinal
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
0.700 CausalMutation CLINVAR Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients. 1316610 1992