rs104893895, MSX2

N. diseases: 3
Disease: Craniosynostosis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
0.010 GeneticVariation BEFREE These data provide a molecular-level explanation of how the Pro148-->His mutation enhances Msx2 function and thus leads to the dominant craniosynostosis phenotype. 8968743 1996