CTNNB1, catenin beta 1, 1499

N. diseases: 1368; N. variants: 68
Disease: Desmoid disease, hereditary ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1851124
Disease: Desmoid disease, hereditary
Desmoid disease, hereditary 		0.010 GeneticVariation disease BEFREE These findings demonstrate (i) that FAP and FIF are allelic, and (ii) that APC gene mutations which truncate the APC protein distal to the beta-catenin binding domain are associated with desmoid tumours, absent CHRPE and variable but attenuated polyposis expression. 8968744 1996