Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 27241
Gene Symbol: BBS9
BBS9 		0.110 GeneticVariation disease GWASDB 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 		0.110 GeneticVariation disease BEFREE A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9. 23160099 2012
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.110 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 		0.110 CausalMutation disease CLINVAR
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.110 Biomarker disease HPO
Entrez Id: 54084
Gene Symbol: TSPEAR
TSPEAR 		0.100 GeneticVariation disease CLINVAR Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis. 27736875 2016
Entrez Id: 54082
Gene Symbol: TSPEAR-AS1
TSPEAR-AS1 		0.100 GeneticVariation disease CLINVAR Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis. 27736875 2016
Entrez Id: 51715
Gene Symbol: RAB23
RAB23 		0.100 Biomarker disease HPO
Entrez Id: 7545
Gene Symbol: ZIC1
ZIC1 		0.100 Biomarker disease HPO
Entrez Id: 5977
Gene Symbol: DPF2
DPF2 		0.100 Biomarker disease HPO
Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 3590
Gene Symbol: IL11RA
IL11RA 		0.100 Biomarker disease HPO
Entrez Id: 8318
Gene Symbol: CDC45
CDC45 		0.100 Biomarker disease HPO
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		0.100 CausalMutation disease CLINVAR
Entrez Id: 9401
Gene Symbol: RECQL4
RECQL4 		0.100 Biomarker disease HPO
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24 		0.100 Biomarker disease HPO
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		0.100 Biomarker disease HPO
Entrez Id: 55764
Gene Symbol: IFT122
IFT122 		0.100 Biomarker disease HPO
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 6651
Gene Symbol: SON
SON 		0.100 Biomarker disease HPO
Entrez Id: 650
Gene Symbol: BMP2
BMP2 		0.020 AlteredExpression disease BEFREE FGFR1-3 mutational hotspots and the entire TWIST1, RAB23, and BMP2 coding regions were screened because of their known roles in human nonsyndromic or syndromic sagittal craniosynostosis, expression patterns, and/or animal model studies. 26910679 2016
Entrez Id: 650
Gene Symbol: BMP2
BMP2 		0.020 Biomarker disease BEFREE A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9. 23160099 2012
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		0.020 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 		0.020 GeneticVariation disease BEFREE [2006] reported a TWIST Box "nondisease-causing polymorphism" in a patient with isolated sagittal synostosis. 17343269 2007