MSX2, msh homeobox 2, 4488

N. diseases: 135; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
0.320 AlteredExpression group BEFREE MSX2 is expressed in key craniofacial structures during development and mutations in the human gene give rise to various craniofacial abnormalities. 11419342 2001
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
0.320 Biomarker group CTD_human Perinatal lethality and multiple craniofacial malformations in MSX2 transgenic mice. 9147639 1997
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
0.320 Biomarker group BEFREE For example, the utilization of these strategies has resulted in the successful mapping of approximately 70 genes related to craniofacial anomalies (e.g., Pax, retinoic acid receptors, cadhedrins, aggrecan, cell adhesion molecules, substrate adhesion molecules, etc.), 30 genes related to dental tissue disorders (e.g., BMPs, bone morphogenetic proteins; dentin phosphoproteins, dentin sialoglycoproteins, enamelins, amelogenins), 20 genes related to facial clefting defects (e.g., Hox genes, transforming growth factor alpha), and 3 genes related to craniosynostosis (e.g., Msx-2). 7554921 1995