×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
0.620
GeneticVariation
disease
BEFREE
Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W ), Muenke syndrome (FGFR3 substitution P250R ), Saethre-Chotzen syndrome (various mutations in TWIST1 ) and non-syndromic sagittal synostosis (no mutation detected) were cultured.
19755431
2010
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
0.620
GeneticVariation
disease
BEFREE
[2006] reported a TWIST Box "nondisease-causing polymorphism" in a patient with isolated sagittal synostosis .
17343269
2007
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
0.620
GermlineCausalMutation
disease
ORPHANET
[2006] reported a TWIST Box "nondisease-causing polymorphism" in a patient with isolated sagittal synostosis .
17343269
2007
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
0.620
Biomarker
disease
CTD_human
Craniosynostosis in Twist heterozygous mice: a model for Saethre-Chotzen syndrome.
12221714
2002
×
Entrez Id:
7291
Gene Symbol:
TWIST1
TWIST1
0.620
Biomarker
disease
HPO
×
Entrez Id:
4091
Gene Symbol:
SMAD6
SMAD6
0.500
Biomarker
disease
GENOMICS_ENGLAND
Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor.
28659821
2017
×
Entrez Id:
2077
Gene Symbol:
ERF
ERF
0.500
Biomarker
disease
CTD_human
Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.
23354439
2013
×
Entrez Id:
2077
Gene Symbol:
ERF
ERF
0.500
GermlineCausalMutation
disease
ORPHANET
Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.
23354439
2013
×
Entrez Id:
60529
Gene Symbol:
ALX4
ALX4
0.500
SusceptibilityMutation
disease
ORPHANET
ALX4 gain-of-function mutations in nonsyndromic craniosynostosis.
22829454
2012
×
Entrez Id:
4091
Gene Symbol:
SMAD6
SMAD6
0.500
Biomarker
disease
CTD_human
×
Entrez Id:
60529
Gene Symbol:
ALX4
ALX4
0.500
Biomarker
disease
CTD_human
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.410
GeneticVariation
disease
BEFREE
Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W ), Muenke syndrome (FGFR3 substitution P250R ), Saethre-Chotzen syndrome (various mutations in TWIST1) and non-syndromic sagittal synostosis (no mutation detected) were cultured.
19755431
2010
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.410
Biomarker
disease
CTD_human
Syndromic craniosynostosis with elbow joint contracture.
16465081
2006
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.410
Biomarker
disease
CTD_human
FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome.
9605588
1998
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.410
Biomarker
disease
CTD_human
FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation.
8957519
1996
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.410
CausalMutation
disease
CLINVAR
×
Entrez Id:
27241
Gene Symbol:
BBS9
BBS9
0.400
GeneticVariation
disease
GWASCAT
A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9.
23160099
2012
×
Entrez Id:
27241
Gene Symbol:
BBS9
BBS9
0.400
Biomarker
disease
CTD_human
A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9.
23160099
2012
×
Entrez Id:
55764
Gene Symbol:
IFT122
IFT122
0.400
Biomarker
disease
CTD_human
Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.
20493458
2010
×
Entrez Id:
55764
Gene Symbol:
IFT122
IFT122
0.400
Biomarker
disease
HPO
×
Entrez Id:
4745
Gene Symbol:
NELL1
NELL1
0.310
Biomarker
disease
BEFREE
In the current study, cultured calvarial explants isolated from Nell-1 transgenic newborn mice (with mild sagittal synostosis ) demonstrated continuous bone growth and overlapping sagittal sutures.
16936265
2006
×
Entrez Id:
4745
Gene Symbol:
NELL1
NELL1
0.310
Biomarker
disease
CTD_human
Overexpression of Nell-1, a craniosynostosis-associated gene, induces apoptosis in osteoblasts during craniofacial development.
14672347
2003
×
Entrez Id:
2146
Gene Symbol:
EZH2
EZH2
0.300
Biomarker
disease
CTD_human
Epigenetic Control of Skeletal Development by the Histone Methyltransferase Ezh2.
26424790
2015
×
Entrez Id:
6938
Gene Symbol:
TCF12
TCF12
0.300
Biomarker
disease
CTD_human
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.
23354436
2013
×
Entrez Id:
650
Gene Symbol:
BMP2
BMP2
0.300
Biomarker
disease
CTD_human
A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9.
23160099
2012