MSX2, msh homeobox 2, 4488

N. diseases: 135; N. variants: 7
Disease: CRANIOSYNOSTOSIS, TYPE 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
CRANIOSYNOSTOSIS, TYPE 2 		0.800 GeneticVariation disease UNIPROT One other family with autosomal dominant craniosynostosis (Boston type) has been reported to have a missense mutation in MSX2. 23949913 2013
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
CRANIOSYNOSTOSIS, TYPE 2 		0.800 GeneticVariation disease BEFREE One other family with autosomal dominant craniosynostosis (Boston type) has been reported to have a missense mutation in MSX2. 23949913 2013
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
CRANIOSYNOSTOSIS, TYPE 2 		0.800 GeneticVariation disease UNIPROT Second family with the Boston-type craniosynostosis syndrome: novel mutation and expansion of the clinical spectrum. 23918290 2013
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
CRANIOSYNOSTOSIS, TYPE 2 		0.800 GermlineCausalMutation disease ORPHANET One other family with autosomal dominant craniosynostosis (Boston type) has been reported to have a missense mutation in MSX2. 23949913 2013
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
CRANIOSYNOSTOSIS, TYPE 2 		0.800 GeneticVariation disease BEFREE Molecular analysis revealed a missense mutation in the MSX2-associated with the Boston-type craniosynostosis syndrome-affecting the same amino-acid residue as in the original Boston family. 23918290 2013
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
CRANIOSYNOSTOSIS, TYPE 2 		0.800 GermlineCausalMutation disease ORPHANET Second family with the Boston-type craniosynostosis syndrome: novel mutation and expansion of the clinical spectrum. 23918290 2013
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
CRANIOSYNOSTOSIS, TYPE 2 		0.800 Biomarker disease GENOMICS_ENGLAND Second family with the Boston-type craniosynostosis syndrome: novel mutation and expansion of the clinical spectrum. 23918290 2013
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
CRANIOSYNOSTOSIS, TYPE 2 		0.800 GeneticVariation disease BEFREE The Boston-type craniosynostosis mutation MSX2 (P148H) results in enhanced susceptibility of MSX2 to ubiquitin-dependent degradation. 18786927 2008
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
CRANIOSYNOSTOSIS, TYPE 2 		0.800 GeneticVariation disease BEFREE An extra copy of the MSX2 gene, which maps within the duplicated segment and is mutated in Boston-type craniosynostosis, was confirmed by molecular cytogenetic studies. 18000908 2007
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
CRANIOSYNOSTOSIS, TYPE 2 		0.800 GeneticVariation disease BEFREE Mutations in the human homeobox-containing gene, Msx2, have been shown to cause Boston type craniosynostosis, and we have shown that overexpression of Msx2 leads to craniosynostosis in mice. 12674336 2003
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
CRANIOSYNOSTOSIS, TYPE 2 		0.800 Biomarker disease GENOMICS_ENGLAND Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2. 14571277 2003
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
CRANIOSYNOSTOSIS, TYPE 2 		0.800 GeneticVariation disease BEFREE By contrast,Saethre-Chotzen syndrome and craniosynostosis (Boston-type) arise from mutations in the Twist and muscle segment homeobox 2 (MSX2) transcription factors, respectively. 14987407 2003
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
CRANIOSYNOSTOSIS, TYPE 2 		0.800 GeneticVariation disease BEFREE It has previously been shown that a missense mutation of Msx2 (P148H) causes Boston-type craniosynostosis in humans. 11683913 2001
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
CRANIOSYNOSTOSIS, TYPE 2 		0.800 Biomarker disease BEFREE This implies that Boston type craniosynostosis and FPP are allelic variants of the same gene, with FPP caused by loss of MSX2 function and craniosynostosis Boston type due to gain of MSX2 function. 10767351 2000
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
CRANIOSYNOSTOSIS, TYPE 2 		0.800 Biomarker disease BEFREE We found previously that a single amino acid substitution in the homeodomain of the human MSX2 gene is associated with the autosomal dominant disorder craniosynostosis, Boston type. 9917362 1999
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
CRANIOSYNOSTOSIS, TYPE 2 		0.800 GeneticVariation disease BEFREE A mutation in the homeotic gene MSX2 was the first genetic defect identified in an autosomal dominant primary craniosynostosis, i.e. in craniosynostosis type 2 (Boston type). 9342602 1997
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
CRANIOSYNOSTOSIS, TYPE 2 		0.800 GeneticVariation disease 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
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
CRANIOSYNOSTOSIS, TYPE 2 		0.800 GeneticVariation disease 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
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
CRANIOSYNOSTOSIS, TYPE 2 		0.800 GeneticVariation disease UNIPROT A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis. 8106171 1993
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
CRANIOSYNOSTOSIS, TYPE 2 		0.800 CausalMutation disease CLINVAR
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
CRANIOSYNOSTOSIS, TYPE 2 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
CRANIOSYNOSTOSIS, TYPE 2 		0.800 Biomarker disease CTD_human