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: C0205646
Disease: Adenoma, Basal Cell
Adenoma, Basal Cell
0.360 AlteredExpression disease BEFREE Nuclear β-catenin expression (≥3%) was present in 32/34 cases (94.1%) of BCA, and the nuclear β-catenin labeling index was significantly higher than in other tumor types (p = < 0.0001). 29496310 2018
CUI: C0205646
Disease: Adenoma, Basal Cell
Adenoma, Basal Cell
0.360 Biomarker disease BEFREE We performed immunohistochemistry to detect TLE1 and β-catenin and investigated the catenin beta-1 (CTNNB1) mutational profile among BCA and BCAC cases. 30053869 2018
CUI: C0205646
Disease: Adenoma, Basal Cell
Adenoma, Basal Cell
0.360 AlteredExpression disease BEFREE We sequenced the CYLD gene in both basal cell adenomas and adenocarcinomas and correlated the findings with CYLD, NF-κB, and β-catenin expression levels and clinicopathologic factors. 29463883 2018
CUI: C0205646
Disease: Adenoma, Basal Cell
Adenoma, Basal Cell
0.360 AlteredExpression disease BEFREE Nuclear β-catenin expression was present in 97.6% of BCA and 66.7% of BCAC cases but not in AdCC cases. 29224720 2018
CUI: C0205646
Disease: Adenoma, Basal Cell
Adenoma, Basal Cell
0.360 Biomarker disease BEFREE Nuclear β-catenin staining was present in 18/22 (82%) basal cell adenomas; most were diffuse and strong and predominant in the basal component. 27259009 2016
CUI: C0205646
Disease: Adenoma, Basal Cell
Adenoma, Basal Cell
0.360 GeneticVariation disease BEFREE CTNNB1 mutation analysis was performed in 21 basal cell adenomas; mutations, including I35T and T41P, were detected in 11/21 (52%) cases. 21323741 2011
CUI: C0205646
Disease: Adenoma, Basal Cell
Adenoma, Basal Cell
0.360 Biomarker disease CTD_human More frequent beta-catenin gene mutations in adenomas than in aberrant crypt foci or adenocarcinomas in the large intestines of 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine (PhIP)-treated rats. 10965019 2000
CUI: C0205646
Disease: Adenoma, Basal Cell
Adenoma, Basal Cell
0.360 Biomarker disease CTD_human Relationship of beta-catenin and Bcl-2 expression to sulindac-induced regression of intestinal tumors in Min mice. 10223192 1999