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 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 CLINVAR
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 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 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 This deletion leads to haploinsufficiency of TCF12 gene that can explain the coronal craniosynostosis described in the patient. 24648389 2014
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 Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations. 17343269 2007
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 Biomarker disease HPO
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: 7545
Gene Symbol: ZIC1
ZIC1 		0.120 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