Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6938
Gene Symbol: TCF12
TCF12
0.460 GeneticVariation disease BEFREE In humans, mutations in TCF12 lead to craniosynostosis, a congenital birth disorder characterized by the premature fusion of one or several of the cranial sutures. 31188878 2019
Entrez Id: 6938
Gene Symbol: TCF12
TCF12
0.460 Biomarker disease BEFREE To gain better understanding of the sutural involvement in the midface and support treatment capabilities of medical and dental specialists in these patients, we suggest the concentration of patients with Muenke and Saethre-Chotzen syndromes or TCF12-related craniosynostosis in specialized teams for a multi-disciplinary approach and treatment. 30392078 2019
Entrez Id: 6938
Gene Symbol: TCF12
TCF12
0.460 GeneticVariation disease BEFREE Here, we present the identification of four large rearrangements in TCF12 causing TCF12-related craniosynostosis. 27158814 2016
Entrez Id: 6938
Gene Symbol: TCF12
TCF12
0.460 GeneticVariation disease BEFREE Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants. 25271085 2015
Entrez Id: 6938
Gene Symbol: TCF12
TCF12
0.460 GeneticVariation disease BEFREE Heterozygous mutations in TCF12 were recently identified as an important cause of craniosynostosis. 25871887 2015
Entrez Id: 6938
Gene Symbol: TCF12
TCF12
0.460 GeneticVariation disease BEFREE Using exome sequencing, we identified 38 heterozygous TCF12 mutations in 347 samples from unrelated individuals with craniosynostosis. 23354436 2013
Entrez Id: 6938
Gene Symbol: TCF12
TCF12
0.460 Biomarker disease CTD_human 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
0.460 Biomarker disease HPO