CTNNB1, catenin beta 1, 1499

N. diseases: 1368; N. variants: 68
Disease: Fibrous Dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0259779
Disease: Fibrous Dysplasia
Fibrous Dysplasia 		0.010 Biomarker disease BEFREE As our previous work has shown that GNAS gain-of-function mutations upregulate WNT-β-catenin signaling in osteoblast progenitor cells, resulting in their defective differentiation and fibrous dysplasia, we identify Gαs as a key regulator of proper osteoblast differentiation through its maintenance of a balance between the Wnt-β-catenin and Hedgehog pathways. 24076664 2013