rs104893895, MSX2

N. diseases: 3
Disease: CRANIOSYNOSTOSIS, TYPE 2 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CRANIOSYNOSTOSIS, TYPE 2
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
0.840 GeneticVariation UNIPROT Second family with the Boston-type craniosynostosis syndrome: novel mutation and expansion of the clinical spectrum. 23918290 2013
CRANIOSYNOSTOSIS, TYPE 2
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
0.840 GeneticVariation UNIPROT Boston type craniosynostosis: report of a second mutation in MSX2. 23949913 2013
CRANIOSYNOSTOSIS, TYPE 2
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
0.840 GeneticVariation BEFREE The Boston-type craniosynostosis mutation MSX2 (P148H) results in enhanced susceptibility of MSX2 to ubiquitin-dependent degradation. 18786927 2008
CRANIOSYNOSTOSIS, TYPE 2
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
0.840 GeneticVariation BEFREE It has previously been shown that a missense mutation of Msx2 (P148H) causes Boston-type craniosynostosis in humans. 11683913 2001
CRANIOSYNOSTOSIS, TYPE 2
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
0.840 GeneticVariation BEFREE MSX2 is a homeodomain transcription factor that has been implicated in craniofacial morphogenesis on the basis of its expression pattern during mouse development and the finding of a missense mutation (P148H) in humans affected with Boston-type craniosynostosis. 9147639 1997
CRANIOSYNOSTOSIS, TYPE 2
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
0.840 GeneticVariation BEFREE The molecular basis of Boston-type craniosynostosis: the Pro148-->His mutation in the N-terminal arm of the MSX2 homeodomain stabilizes DNA binding without altering nucleotide sequence preferences. 8968743 1996
CRANIOSYNOSTOSIS, TYPE 2
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
0.840 GeneticVariation UNIPROT A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis. 8106171 1993
CRANIOSYNOSTOSIS, TYPE 2
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
0.840 CausalMutation CLINVAR
CRANIOSYNOSTOSIS, TYPE 2
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
0.840 CausalMutation CLINVAR