APC, APC regulator of WNT signaling pathway, 324

N. diseases: 703; N. variants: 681
Disease: Agenesis of corpus callosum ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.030 PosttranslationalModification disease BEFREE APC mutations were found in only 7 % of cases, while APC loss and methylation were more frequently observed (48 and 56 % of ACCs, respectively). 24590585 2014
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.030 GeneticVariation disease BEFREE The objective of this study was to assess the prognostic value of β-catenin immunohistochemistry and CTNNB1 (β-catenin gene)/APC (adenomatous polyposis coli gene) mutations in patients with resected primary ACC. 21088256 2011
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.030 GeneticVariation disease BEFREE Molecular alterations in the APC/beta-catenin pathway were detected in 23.5% (4 of 17) of the carcinomas, including one ACC with an activating mutation of the beta-catenin oncogene and three ACCs with truncating APC mutations. 11891193 2002