AXIN2, axin 2, 8313

N. diseases: 169; N. variants: 34
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
0.220 Biomarker disease BEFREE As a negative regulator of the Wnt signaling pathway which is one of the key modulators of craniosynostosis syndrome, it has been shown in model organisms that Axin2 orchestrates the regulation of beta-catenin especially in the intramembranous ossification process. 30088857 2018
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
0.220 AlteredExpression disease BEFREE The importance of Axin2 is further demonstrated by its genetic inactivation in mice causing skeletal deformities resembling craniosynostosis in humans. 28520221 2017
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
0.220 Biomarker disease MGD The role of Axin2 in calvarial morphogenesis and craniosynostosis. 15790973 2005