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: C1320468
Disease: Nephrogenic rest
Nephrogenic rest
0.030 Biomarker disease BEFREE In hereditary Wilms tumors, clonal loss of WT1 precludes the β-catenin pathway response and leads to precancerous nephrogenic rests. 25331950 2015
CUI: C1320468
Disease: Nephrogenic rest
Nephrogenic rest
0.030 GeneticVariation disease BEFREE Here a panel of four sporadic Wilms tumours with associated nephrogenic rest tissue and characterised WTX and CTNNB1 mutations is studied to ascertain the temporal sequence of acquisition of these mutations. 20679664 2010
CUI: C1320468
Disease: Nephrogenic rest
Nephrogenic rest
0.030 GeneticVariation disease BEFREE Thus, even though these two classes of tumours with IGF2 LOI have the same underlying predisposing epigenetic error, the tumour histology and the gene expression profiles are determined by the nature of the precursor cells within the nephrogenic rests and subsequent CTNNB1 mutations. 18484682 2008