APC, APC regulator of WNT signaling pathway, 324

N. diseases: 703; N. variants: 681
Disease: Fibromatosis, Aggressive ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123122
rs398123122
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0079218
Disease:
Fibromatosis, Aggressive 		AT 0.700 CausalMutation CLINVAR
dbSNP: rs559510809
rs559510809
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0079218
Disease:
Fibromatosis, Aggressive 		0.010 GeneticVariation BEFREE Multiple desmoid tumors in a patient with familial adenomatous polyposis caused by the novel W421X mutation. 22449158 2012