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: C0278875
Disease: Adult Craniopharyngioma
Adult Craniopharyngioma
0.340 GeneticVariation disease BEFREE The aim of this study was to investigate the noninvasive MRI-based radiomics diagnosis to detect BRAF and CTNNB1 mutations in craniopharyngioma patients. 30616515 2019
CUI: C0278875
Disease: Adult Craniopharyngioma
Adult Craniopharyngioma
0.340 Biomarker disease CTD_human Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas. 24413733 2014
CUI: C0278875
Disease: Adult Craniopharyngioma
Adult Craniopharyngioma
0.340 Biomarker disease BEFREE Our findings provide insights into the role of the Wnt pathway in normal pituitary development and demonstrate a causative role for mutated β-catenin in an undifferentiated RP progenitor in the genesis of murine and human craniopharyngioma. 21636786 2011
CUI: C0278875
Disease: Adult Craniopharyngioma
Adult Craniopharyngioma
0.340 AlteredExpression disease BEFREE The objective of this study is to perform the molecular analysis of HESX1, PROP1, POU1F1, and CTNNB1 genes and evaluate a panel of miRNA expression in craniopharyngioma. 21761366 2010
CUI: C0278875
Disease: Adult Craniopharyngioma
Adult Craniopharyngioma
0.340 GeneticVariation disease BEFREE We conclude that beta-catenin mutations and/or nuclear accumulation serve as diagnostic hallmarks of the adamantinomatous variant, setting it apart from the papillary variant of craniopharyngioma. 15891929 2005