MSX2, msh homeobox 2, 4488

N. diseases: 135; N. variants: 7
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893895
rs104893895
Entrez Id: 4488
Gene Symbol: MSX2
MSX2
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
dbSNP: rs104893895
rs104893895
Entrez Id: 4488
Gene Symbol: MSX2
MSX2
CUI: C1858160
Disease:
CRANIOSYNOSTOSIS, TYPE 2 		0.840 GeneticVariation UNIPROT Boston type craniosynostosis: report of a second mutation in MSX2. 23949913 2013
dbSNP: rs104893895
rs104893895
Entrez Id: 4488
Gene Symbol: MSX2
MSX2
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
dbSNP: rs104893895
rs104893895
Entrez Id: 4488
Gene Symbol: MSX2
MSX2
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
dbSNP: rs104893895
rs104893895
Entrez Id: 4488
Gene Symbol: MSX2
MSX2
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
dbSNP: rs104893895
rs104893895
Entrez Id: 4488
Gene Symbol: MSX2
MSX2
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
dbSNP: rs104893895
rs104893895
Entrez Id: 4488
Gene Symbol: MSX2
MSX2
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
dbSNP: rs104893895
rs104893895
Entrez Id: 4488
Gene Symbol: MSX2
MSX2
CUI: C1858160
Disease:
CRANIOSYNOSTOSIS, TYPE 2 		A 0.840 CausalMutation CLINVAR
dbSNP: rs104893895
rs104893895
Entrez Id: 4488
Gene Symbol: MSX2
MSX2
CUI: C1858160
Disease:
CRANIOSYNOSTOSIS, TYPE 2 		T 0.840 CausalMutation CLINVAR
dbSNP: rs104893896
rs104893896
Entrez Id: 4488
Gene Symbol: MSX2
MSX2
CUI: C1868599
Disease:
PARIETAL FORAMINA 1 		0.800 GeneticVariation UNIPROT Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna. 10767351 2000
dbSNP: rs104893896
rs104893896
Entrez Id: 4488
Gene Symbol: MSX2
MSX2
CUI: C1868599
Disease:
PARIETAL FORAMINA 1 		0.800 GeneticVariation UNIPROT Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification. 10742103 2000
dbSNP: rs104893896
rs104893896
Entrez Id: 4488
Gene Symbol: MSX2
MSX2
CUI: C1868599
Disease:
PARIETAL FORAMINA 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs4242182
rs4242182
Entrez Id: 4488
Gene Symbol: MSX2
MSX2
CUI: C0018498
Disease:
Hair Color 		T 0.700 GeneticVariation GWASCAT Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability. 30531825 2018
dbSNP: rs104893895
rs104893895
Entrez Id: 4488
Gene Symbol: MSX2
MSX2
CUI: C1868598
Disease:
PARIETAL FORAMINA 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121912971
rs121912971
Entrez Id: 4488
Gene Symbol: MSX2
MSX2
CUI: C1868599
Disease:
PARIETAL FORAMINA 1 		TA 0.700 CausalMutation CLINVAR
dbSNP: rs121912972
rs121912972
Entrez Id: 4488
Gene Symbol: MSX2
MSX2
CUI: C1868599
Disease:
PARIETAL FORAMINA 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1561643029
rs1561643029
Entrez Id: 4488
Gene Symbol: MSX2
MSX2
CUI: C1868597
Disease:
Parietal Foramina With Cleidocranial Dysplasia 		CATTG 0.700 CausalMutation CLINVAR
dbSNP: rs1561643060
rs1561643060
Entrez Id: 4488
Gene Symbol: MSX2
MSX2
CUI: C1868599
Disease:
PARIETAL FORAMINA 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs4242182
rs4242182
Entrez Id: 4488
Gene Symbol: MSX2
MSX2
CUI: C0027794
Disease:
Neural Tube Defects 		0.010 GeneticVariation BEFREE Maternal Msx2 C386T gene polymorphisms were associated with fetal neural tube defects in Han Chinese women in Shanxi Province. 21362336 2011
dbSNP: rs104893895
rs104893895
Entrez Id: 4488
Gene Symbol: MSX2
MSX2
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