MSX2, msh homeobox 2, 4488

N. diseases: 135; N. variants: 7
Disease: Syndactyly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0039075
Disease: Syndactyly
Syndactyly 		0.020 AlteredExpression disease BEFREE The close correlation between limb bud epidermal blistering, decreased Msx2 expression, and reduced ICD in the Fras1(rdf) hindlimb buds suggests that epithelium detachment from the mesenchyme may create a physical gap that interrupts the transmission of BMP, among other signals, resulting in soft tissue syndactyly. 26813283 2016
CUI: C0039075
Disease: Syndactyly
Syndactyly 		0.020 Biomarker disease BEFREE Molecular analysis of MSX2 should therefore be considered in patients with isolated scaphocephaly/unicoronal synostosis, especially in the presence of a family history for craniosynostosis or syndactyly. 23918290 2013