Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7545
Gene Symbol: ZIC1
ZIC1 		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: 2260
Gene Symbol: FGFR1
FGFR1 		0.300 Biomarker disease CTD_human
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		0.700 GeneticVariation disease CLINVAR A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1. 9792856 1998
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: 2157
Gene Symbol: F8
F8 		0.010 GeneticVariation disease BEFREE A total of 316 Chinese AHF participants (158 patients with CRS1 and 158 age- and sex-matched controls) were recruited for the present observational study to investigate the association between nine common SIRT1 SNPs (i.e., rs7895833 G > A, rs10509291 T > A, rs3740051 A > G, rs932658 A > C, rs33957861 C > T, rs7069102 C > G, rs2273773 T > C, rs3818292 A > G, and rs1467568 A > G) and the susceptibility to CRS1. 31355422 2019
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		0.700 GeneticVariation disease CLINVAR A Twist in fate: evolutionary comparison of Twist structure and function. 11992718 2002
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		0.700 CausalMutation disease CLINVAR A Twist in fate: evolutionary comparison of Twist structure and function. 11992718 2002
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		0.700 GeneticVariation disease CLINVAR Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study. 19373776 2009
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		0.700 CausalMutation disease CLINVAR Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study. 19373776 2009
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		0.700 GeneticVariation disease CLINVAR Clinical and genetic analysis of patients with Saethre-Chotzen syndrome. 15923834 2005
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: 7291
Gene Symbol: TWIST1
TWIST1 		0.700 Biomarker disease CTD_human Craniosynostosis in Twist heterozygous mice: a model for Saethre-Chotzen syndrome. 12221714 2002
Entrez Id: 2077
Gene Symbol: ERF
ERF 		0.400 GeneticVariation disease CLINVAR De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis. 28808027 2017
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: 57539
Gene Symbol: WDR35
WDR35 		0.300 Biomarker disease CTD_human Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. 20817137 2010
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		0.700 GeneticVariation disease CLINVAR Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants. 25271085 2015
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.300 Biomarker disease CTD_human FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome. 9605588 1998
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.300 Biomarker disease CTD_human FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation. 8957519 1996
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		0.700 GeneticVariation disease CLINVAR Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. 9585583 1998
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		0.700 CausalMutation disease CLINVAR Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 24127277 2013
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		0.700 GeneticVariation disease CLINVAR Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 24127277 2013