Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		0.410 Biomarker disease BEFREE We show that FGF2 will induce Twist1, normalize osteoprogenitor proliferation and differentiation and rescue the lambdoid suture synostosis in Gli3Xt-J/Xt-J mice. 20570969 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 GeneticVariation disease BEFREE The FGFR2 missense mutation was detected in Crouzon syndrome but not in sporadic Chiari I with syringomyelia or lambdoid synostosis. 12186468 2002
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		0.410 Biomarker disease CTD_human Craniosynostosis in Twist heterozygous mice: a model for Saethre-Chotzen syndrome. 12221714 2002
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 Biomarker disease HPO
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		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: 2077
Gene Symbol: ERF
ERF 		0.400 Biomarker disease HPO
Entrez Id: 7545
Gene Symbol: ZIC1
ZIC1 		0.400 Biomarker disease HPO
Entrez Id: 7545
Gene Symbol: ZIC1
ZIC1 		0.400 Biomarker disease CTD_human
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: 27241
Gene Symbol: BBS9
BBS9 		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
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
Entrez Id: 57539
Gene Symbol: WDR35
WDR35 		0.300 Biomarker disease CTD_human Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. 20817137 2010
Entrez Id: 55764
Gene Symbol: IFT122
IFT122 		0.300 Biomarker disease CTD_human Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. 20493458 2010
Entrez Id: 1947
Gene Symbol: EFNB1
EFNB1 		0.300 Biomarker disease CTD_human Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. 15166289 2004
Entrez Id: 4745
Gene Symbol: NELL1
NELL1 		0.300 Biomarker disease CTD_human Overexpression of Nell-1, a craniosynostosis-associated gene, induces apoptosis in osteoblasts during craniofacial development. 14672347 2003
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		0.300 Biomarker disease CTD_human
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6 		0.300 Biomarker disease CTD_human
Entrez Id: 158326
Gene Symbol: FREM1
FREM1 		0.300 Biomarker disease CTD_human
Entrez Id: 60529
Gene Symbol: ALX4
ALX4 		0.300 Biomarker disease CTD_human
Entrez Id: 9401
Gene Symbol: RECQL4
RECQL4 		0.100 Biomarker disease HPO