|
| Entrez Id: |
7545 |
| Gene Symbol: |
ZIC1 |
ZIC1
|
0.600 |
GermlineCausalMutation
|
disease |
ORPHANET |
Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability.
|
26340333 |
2015 |
|
| Entrez Id: |
6938 |
| Gene Symbol: |
TCF12 |
TCF12
|
0.600 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.
|
23354436 |
2013 |
|
| Entrez Id: |
6938 |
| Gene Symbol: |
TCF12 |
TCF12
|
0.600 |
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: |
7291 |
| Gene Symbol: |
TWIST1 |
TWIST1
|
0.600 |
GermlineCausalMutation
|
disease |
ORPHANET |
Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations.
|
17343269 |
2007 |
|
| Entrez Id: |
7291 |
| Gene Symbol: |
TWIST1 |
TWIST1
|
0.600 |
Biomarker
|
disease |
CTD_human |
Craniosynostosis in Twist heterozygous mice: a model for Saethre-Chotzen syndrome.
|
12221714 |
2002 |
|
| Entrez Id: |
7291 |
| Gene Symbol: |
TWIST1 |
TWIST1
|
0.600 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
6938 |
| Gene Symbol: |
TCF12 |
TCF12
|
0.600 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
7545 |
| Gene Symbol: |
ZIC1 |
ZIC1
|
0.600 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
| Entrez Id: |
7545 |
| Gene Symbol: |
ZIC1 |
ZIC1
|
0.600 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
2261 |
| Gene Symbol: |
FGFR3 |
FGFR3
|
0.410 |
GeneticVariation
|
disease |
BEFREE |
Suboptimal morphological and mental outcomes can be expected in patients with nonsyndromic brachycephaly who carry the FGFR3 P250R mutation.
|
12087222 |
2002 |
|
| Entrez Id: |
2261 |
| Gene Symbol: |
FGFR3 |
FGFR3
|
0.410 |
GermlineCausalMutation
|
disease |
ORPHANET |
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) causes non-syndromic craniosynostosis.
|
10914960 |
2000 |
|
| Entrez Id: |
2261 |
| Gene Symbol: |
FGFR3 |
FGFR3
|
0.410 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
2077 |
| Gene Symbol: |
ERF |
ERF
|
0.400 |
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: |
2263 |
| Gene Symbol: |
FGFR2 |
FGFR2
|
0.400 |
Biomarker
|
disease |
CTD_human |
Syndromic craniosynostosis with elbow joint contracture.
|
16465081 |
2006 |
|
| Entrez Id: |
1947 |
| Gene Symbol: |
EFNB1 |
EFNB1
|
0.400 |
Biomarker
|
disease |
CTD_human |
Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome.
|
15166289 |
2004 |
|
| Entrez Id: |
2263 |
| Gene Symbol: |
FGFR2 |
FGFR2
|
0.400 |
Biomarker
|
disease |
CTD_human |
FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome.
|
9605588 |
1998 |
|
| Entrez Id: |
2263 |
| Gene Symbol: |
FGFR2 |
FGFR2
|
0.400 |
Biomarker
|
disease |
CTD_human |
FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation.
|
8957519 |
1996 |
|
| Entrez Id: |
2077 |
| Gene Symbol: |
ERF |
ERF
|
0.400 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
2260 |
| Gene Symbol: |
FGFR1 |
FGFR1
|
0.400 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
2260 |
| Gene Symbol: |
FGFR1 |
FGFR1
|
0.400 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
| Entrez Id: |
60529 |
| Gene Symbol: |
ALX4 |
ALX4
|
0.400 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
60529 |
| Gene Symbol: |
ALX4 |
ALX4
|
0.400 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
| Entrez Id: |
1947 |
| Gene Symbol: |
EFNB1 |
EFNB1
|
0.400 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
2263 |
| Gene Symbol: |
FGFR2 |
FGFR2
|
0.400 |
Biomarker
|
disease |
HPO |
|
|
|
|
| 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 |