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 BEFREE This is the first study that reports the TCF12 mutations in Turkish patients with coronal suture synostosis. 31353793 2019
Entrez Id: 6938
Gene Symbol: TCF12
TCF12
0.440 GeneticVariation disease BEFREE Variants were identified most frequently in TCF12 (N = 22) and EFNB1 (N = 8), typically in individuals with nonsyndromic coronal craniosynostosis or TWIST1-negative clinically suspected Saethre-Chotzen syndrome. 29215649 2018
Entrez Id: 6938
Gene Symbol: TCF12
TCF12
0.440 GeneticVariation disease BEFREE This deletion leads to haploinsufficiency of TCF12 gene that can explain the coronal craniosynostosis described in the patient. 24648389 2014
Entrez Id: 6938
Gene Symbol: TCF12
TCF12
0.440 Biomarker disease GENOMICS_ENGLAND Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis. 23354436 2013
Entrez Id: 6938
Gene Symbol: TCF12
TCF12
0.440 GeneticVariation disease BEFREE Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis. 23354436 2013
Entrez Id: 6938
Gene Symbol: TCF12
TCF12
0.440 GeneticVariation disease CLINVAR
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
0.150 Biomarker disease BEFREE Our data also reinforce the notion that molecular testing of FGFR3 must be included in the diagnostic approach of coronal craniosynostosis. 27568649 2016
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
0.150 GeneticVariation disease BEFREE We conclude that although both cranial and long bone development is variably affected by the murine Fgfr3(P244R) mutation, coronal craniosynostosis is not reliably reproduced. 19086028 2009
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
0.150 Biomarker disease BEFREE Muenke-type craniosynostosis is defined as fibroblast growth factor receptor 3 (FGFR3)-associated coronal craniosynostosis with or without mental retardation. 18317141 2008
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: 2261
Gene Symbol: FGFR3
FGFR3
0.150 GeneticVariation disease BEFREE Recently, a unique Pro250Arg point mutation in fibroblast growth factor receptor 3 (FGFR3) was reported in 61 individuals with coronal craniosynostosis from 20 unrelated families [Muenke et al.(1997): Am J Hum Genet 60:555-564]. 9600744 1998
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 BEFREE Variants were identified most frequently in TCF12 (N = 22) and EFNB1 (N = 8), typically in individuals with nonsyndromic coronal craniosynostosis or TWIST1-negative clinically suspected Saethre-Chotzen syndrome. 29215649 2018
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
0.140 GeneticVariation disease BEFREE Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis. 23354436 2013
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
0.140 GeneticVariation disease BEFREE We recommend screening for a deletion of the TWIST1 gene if signs of coronal craniosynostosis with no clear etiology are observed on ultrasound examination. 22569119 2012
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
0.140 GeneticVariation disease BEFREE Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations. 17343269 2007
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
0.140 Biomarker disease HPO
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: 7545
Gene Symbol: ZIC1
ZIC1
0.120 Biomarker disease HPO
Entrez Id: 1947
Gene Symbol: EFNB1
EFNB1
0.110 Biomarker disease BEFREE Variants were identified most frequently in TCF12 (N = 22) and EFNB1 (N = 8), typically in individuals with nonsyndromic coronal craniosynostosis or TWIST1-negative clinically suspected Saethre-Chotzen syndrome. 29215649 2018
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: 1947
Gene Symbol: EFNB1
EFNB1
0.110 Biomarker disease HPO
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.110 Biomarker disease HPO