MSX2, msh homeobox 2, 4488

N. diseases: 135; N. variants: 7
Disease: Myelodysplastic Syndrome with Isolated del(5q) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1292779
Disease: Myelodysplastic Syndrome with Isolated del(5q)
Myelodysplastic Syndrome with Isolated del(5q) 		0.010 Biomarker disease BEFREE Our study confirms that early fusion of cranial sutures commonly observed in the dup(5q) syndrome is caused by triplication of the MSX2 gene and strongly supports the crucial role of this gene in the development of craniofacial structures. 18000908 2007