MSX2, msh homeobox 2, 4488

N. diseases: 135; N. variants: 7
Disease: Congenital abnormal Synostosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0039093
Disease: Congenital abnormal Synostosis
Congenital abnormal Synostosis 		0.020 Biomarker disease BEFREE Recently it has been proposed that an extra copy of MSX2 that maps to 5q35.2 causes premature synostosis of the sutures via the MSX2-mediated pathway of calvarial osteogenic differentiation. 19533795 2009
CUI: C0039093
Disease: Congenital abnormal Synostosis
Congenital abnormal Synostosis 		0.020 Biomarker disease BEFREE This provides genetic evidence that Twist1, Msx2 and Efna4 function together in boundary formation and the pathogenesis of coronal synostosis. 16540516 2006
CUI: C0039093
Disease: Congenital abnormal Synostosis
Congenital abnormal Synostosis 		0.020 Biomarker disease LHGDN Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis. 16540516 2006