Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 158326
Gene Symbol: FREM1
FREM1 		0.700 GermlineCausalMutation disease ORPHANET Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice. 21931569 2011
Entrez Id: 158326
Gene Symbol: FREM1
FREM1 		0.700 Biomarker disease HPO
Entrez Id: 158326
Gene Symbol: FREM1
FREM1 		0.700 Biomarker disease CTD_human
Entrez Id: 158326
Gene Symbol: FREM1
FREM1 		0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		0.640 Biomarker disease BEFREE Pathogenic variants in FGFR1 have been described to cause phenotypically different FGFR1-related disorders such as Hartsfield syndrome, hypogonadotropic hypogonadism with or without anosmia, Jackson-Weiss syndrome, osteoglophonic dysplasia, Pfeiffer syndrome, and trigonocephaly Type 1. 31512363 2019
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		0.640 GeneticVariation disease BEFREE FGFR1 (exon 7), CER1, and CDON are not related to trigonocephaly in our sample and should not be considered as causative genes for metopic synostosis. 16526918 2006
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		0.640 GeneticVariation disease BEFREE As a consequence we advise to routinely perform mutation analysis of the FGFR1, 2, and 3 genes in children with non-syndromic trigonocephaly. 17036334 2006
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		0.640 GermlineCausalMutation disease ORPHANET An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly. 11173846 2000
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		0.640 GeneticVariation disease BEFREE An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly. 11173846 2000
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		0.640 Biomarker disease CTD_human
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		0.640 Biomarker disease HPO
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.400 Biomarker disease CTD_human Syndromic craniosynostosis with elbow joint contracture. 16465081 2006
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: 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
Entrez Id: 2077
Gene Symbol: ERF
ERF 		0.300 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: 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: 7291
Gene Symbol: TWIST1
TWIST1 		0.300 Biomarker disease CTD_human Craniosynostosis in Twist heterozygous mice: a model for Saethre-Chotzen syndrome. 12221714 2002