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: C0206667
Disease: Adrenal Cortical Adenoma
Adrenal Cortical Adenoma
0.390 GeneticVariation disease BEFREE Evaluation of adrenal tumors from 118 adult patients demonstrated an increase in CTNNB1 mutations and abnormal β-catenin accumulation in both adrenocortical adenoma and ACC. 22800756 2012
CUI: C0206667
Disease: Adrenal Cortical Adenoma
Adrenal Cortical Adenoma
0.390 GeneticVariation disease BEFREE Mutations of the β-catenin gene (CTNNB1), which lead to constitutive activation of Wnt signaling, have recently been described in adrenocortical adenomas (AA) and carcinomas (ACC). 21733995 2011
CUI: C0206667
Disease: Adrenal Cortical Adenoma
Adrenal Cortical Adenoma
0.390 AlteredExpression disease BEFREE ENC1 was specifically overexpressed in three of three AA harboring CTNNB1 point mutations. mRNA expression and protein levels of RALBP1, PDE2A, and ENC1 were decreased in a dose-dependent manner in H295R cells after treatment with PKF115-584 or PNU74654. 21565795 2011
CUI: C0206667
Disease: Adrenal Cortical Adenoma
Adrenal Cortical Adenoma
0.390 GeneticVariation disease BEFREE One hundred consecutive ACAs (excluding Conn's adenomas) were studied clinically by β-catenin immunohistochemistry and direct sequencing of CTNNB1. 21084400 2011
CUI: C0206667
Disease: Adrenal Cortical Adenoma
Adrenal Cortical Adenoma
0.390 AlteredExpression disease BEFREE Immunostaining for beta-catenin revealed diffuse cytoplasmic expression in resected tissues including adrenocortical adenoma. 19684041 2009
CUI: C0206667
Disease: Adrenal Cortical Adenoma
Adrenal Cortical Adenoma
0.390 AlteredExpression disease BEFREE The Wnt/beta-catenin pathway is activated in PPNADs and ACAs with PRKAR1A mutations, suggesting a cross talk between the cAMP and Wnt/beta-catenin pathways in ACT development. 18647815 2008
CUI: C0206667
Disease: Adrenal Cortical Adenoma
Adrenal Cortical Adenoma
0.390 GeneticVariation disease BEFREE Activating mutations of exon 3 of the beta-catenin gene are frequent in adrenocortical adenomas, and further characterization of the Wnt/beta-catenin signalling pathway should lead to a better understanding of adrenal tumourigenesis. 17854394 2008
CUI: C0206667
Disease: Adrenal Cortical Adenoma
Adrenal Cortical Adenoma
0.390 GeneticVariation disease BEFREE We hypothesized that adrenocortical adenomas that form in the context of PPNAD may harbour beta-catenin mutations. 18419788 2008
CUI: C0206667
Disease: Adrenal Cortical Adenoma
Adrenal Cortical Adenoma
0.390 Biomarker disease BEFREE In adrenocortical adenomas, beta-catenin alterations are more frequent in nonfunctioning tumors, suggesting that beta-catenin pathway activation might be mostly involved in the development of nonsecreting adrenocortical adenomas and adrenocortical carcinomas. 16140927 2005
CUI: C0206667
Disease: Adrenal Cortical Adenoma
Adrenal Cortical Adenoma
0.390 CausalMutation disease CGI