CTNNB1, catenin beta 1, 1499

N. diseases: 1368; N. variants: 68
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
0.100 AlteredExpression disease BEFREE Aberrant expression of β-catenin has been found in approximatively 30% of ACC. 25823656 2015
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
0.100 AlteredExpression disease BEFREE In conclusion, the discovery of novel large deletions in addition to the point mutations in CTNNB1 infers that activation of Wnt/β-Catenin pathway via alterations in CTNNB1 occurs frequently in ACCs. 29872083 2018
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
0.100 AlteredExpression disease BEFREE Activated Akt correlated with the expression of NFκB, β-catenin and COX-2, which can potentially influence cell survival in ACC. 30367261 2018
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
0.100 AlteredExpression disease BEFREE In 79 patients with resected primary ACC from a French cohort (Cochin-COMETE), β-catenin expression was assessed on tumor specimens by immunohistochemistry. 21088256 2011
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
0.100 AlteredExpression disease BEFREE We verified that Nutlin-3a inhibited cellular proliferation in ACC cell line NCI-H295R which harbored CTNNB1 mutation but not in SW13 cells which did not. 29532999 2018
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
0.100 AlteredExpression disease BEFREE The Wnt/beta-catenin pathway can be activated in both benign and malignant tumors by <i>CTNNB1</i> mutations and by <i>ZNRF3</i> inactivation in adrenal cancer (ACC). 29233839 2018
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
0.100 AlteredExpression disease BEFREE Abnormal activation of the Wnt/β-catenin as well as the IGF2 signaling plays an important role in ACC development. 25589272 2015
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
0.100 AlteredExpression disease BEFREE Analysis regarding the level of expression of Wnt/β-catenin and p53 signaling has shown alterations, in keeping with the known molecular somatic genetic defects of these pathways that are observed in ACC. 21208995 2011