Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6938
Gene Symbol: TCF12
TCF12 		0.440 GeneticVariation disease CLINVAR
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.150 Biomarker disease HPO
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.150 CausalMutation disease CLINVAR
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		0.140 Biomarker disease HPO
Entrez Id: 7545
Gene Symbol: ZIC1
ZIC1 		0.120 Biomarker disease HPO
Entrez Id: 1947
Gene Symbol: EFNB1
EFNB1 		0.110 Biomarker disease HPO
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.110 Biomarker disease HPO
Entrez Id: 5447
Gene Symbol: POR
POR 		0.100 Biomarker disease HPO
Entrez Id: 9871
Gene Symbol: SEC24D
SEC24D 		0.100 Biomarker disease HPO
Entrez Id: 3590
Gene Symbol: IL11RA
IL11RA 		0.100 Biomarker disease HPO
Entrez Id: 147372
Gene Symbol: CCBE1
CCBE1 		0.100 Biomarker disease HPO
Entrez Id: 60529
Gene Symbol: ALX4
ALX4 		0.100 Biomarker disease HPO
Entrez Id: 2961
Gene Symbol: GTF2E2
GTF2E2 		0.100 Biomarker disease HPO
Entrez Id: 29957
Gene Symbol: SLC25A24
SLC25A24 		0.100 Biomarker disease HPO
Entrez Id: 5034
Gene Symbol: P4HB
P4HB 		0.100 Biomarker disease HPO
Entrez Id: 9401
Gene Symbol: RECQL4
RECQL4 		0.100 Biomarker disease HPO
Entrez Id: 5648
Gene Symbol: MASP1
MASP1 		0.100 Biomarker disease HPO
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		0.100 Biomarker disease HPO
Entrez Id: 51715
Gene Symbol: RAB23
RAB23 		0.100 Biomarker disease HPO
Entrez Id: 54928
Gene Symbol: IMPAD1
IMPAD1 		0.100 Biomarker disease HPO
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.150 GeneticVariation disease BEFREE A recurrent point mutation in the fibroblast growth factor receptor 3 gene that converts proline 250 into arginine has been reported recently in cases of apparently nonsyndromic coronal craniosynostosis. 10761652 2000
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.110 GeneticVariation disease BEFREE Apert syndrome is a genetic disorder known as acrocephalopolysyndactyly type 1 caused by mutations in the fibroblast growth factor receptor 2 and characterized by coronal craniosynostosis, symmetric bone and skin syndactyly of hands and feet, and craniofacial dysmorphic features. 25045033 2014
Entrez Id: 7545
Gene Symbol: ZIC1
ZIC1 		0.120 GeneticVariation disease BEFREE Clinical studies have also revealed that ZIC1 gain of function mutations contribute to coronal craniosynostosis, a rare skull malformation. 29442326 2018
Entrez Id: 7545
Gene Symbol: ZIC1
ZIC1 		0.120 GeneticVariation disease BEFREE Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability. 26340333 2015
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		0.140 GeneticVariation disease BEFREE Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations. 17343269 2007