Disease: Coronal craniosynostosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1856266
Disease: Coronal craniosynostosis
Coronal craniosynostosis 		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
CUI: C1856266
Disease: Coronal craniosynostosis
Coronal craniosynostosis 		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
CUI: C1856266
Disease: Coronal craniosynostosis
Coronal craniosynostosis 		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
CUI: C1856266
Disease: Coronal craniosynostosis
Coronal craniosynostosis 		0.140 GeneticVariation disease BEFREE Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations. 17343269 2007
CUI: C1856266
Disease: Coronal craniosynostosis
Coronal craniosynostosis 		0.140 Biomarker disease HPO