rs104893895
×
Entrez Id:
4488
Gene Symbol:
MSX2
MSX2
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
rs104893895
×
Entrez Id:
4488
Gene Symbol:
MSX2
MSX2
CRANIOSYNOSTOSIS, TYPE 2
0.840
GeneticVariation
UNIPROT
Boston type craniosynostosis: report of a second mutation in MSX2.
23949913
2013
rs104893895
×
Entrez Id:
4488
Gene Symbol:
MSX2
MSX2
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
rs104893895
×
Entrez Id:
4488
Gene Symbol:
MSX2
MSX2
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
rs104893895
×
Entrez Id:
4488
Gene Symbol:
MSX2
MSX2
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
rs104893895
×
Entrez Id:
4488
Gene Symbol:
MSX2
MSX2
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
rs104893895
×
Entrez Id:
4488
Gene Symbol:
MSX2
MSX2
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
rs104893895
×
Entrez Id:
4488
Gene Symbol:
MSX2
MSX2
CRANIOSYNOSTOSIS, TYPE 2
A
0.840
CausalMutation
CLINVAR
rs104893895
×
Entrez Id:
4488
Gene Symbol:
MSX2
MSX2
CRANIOSYNOSTOSIS, TYPE 2
T
0.840
CausalMutation
CLINVAR
rs104893896
×
Entrez Id:
4488
Gene Symbol:
MSX2
MSX2
PARIETAL FORAMINA 1
0.800
GeneticVariation
UNIPROT
Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna.
10767351
2000
rs104893896
×
Entrez Id:
4488
Gene Symbol:
MSX2
MSX2
PARIETAL FORAMINA 1
0.800
GeneticVariation
UNIPROT
Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification.
10742103
2000
rs104893896
×
Entrez Id:
4488
Gene Symbol:
MSX2
MSX2
PARIETAL FORAMINA 1
A
0.800
CausalMutation
CLINVAR
rs4242182
×
Entrez Id:
4488
Gene Symbol:
MSX2
MSX2
Hair Color
T
0.700
GeneticVariation
GWASCAT
Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.
30531825
2018
rs104893895
×
Entrez Id:
4488
Gene Symbol:
MSX2
MSX2
PARIETAL FORAMINA
A
0.700
CausalMutation
CLINVAR
rs121912971
×
Entrez Id:
4488
Gene Symbol:
MSX2
MSX2
PARIETAL FORAMINA 1
TA
0.700
CausalMutation
CLINVAR
rs121912972
×
Entrez Id:
4488
Gene Symbol:
MSX2
MSX2
PARIETAL FORAMINA 1
T
0.700
CausalMutation
CLINVAR
rs1561643029
×
Entrez Id:
4488
Gene Symbol:
MSX2
MSX2
Parietal Foramina With Cleidocranial Dysplasia
CATTG
0.700
CausalMutation
CLINVAR
rs1561643060
×
Entrez Id:
4488
Gene Symbol:
MSX2
MSX2
PARIETAL FORAMINA 1
A
0.700
CausalMutation
CLINVAR
rs4242182
×
Entrez Id:
4488
Gene Symbol:
MSX2
MSX2
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
rs104893895
×
Entrez Id:
4488
Gene Symbol:
MSX2
MSX2
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