TCF12, transcription factor 12, 6938

N. diseases: 102; N. variants: 19
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3715051
Disease: CRANIOSYNOSTOSIS 3
CRANIOSYNOSTOSIS 3 		0.600 GeneticVariation disease UNIPROT Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants. 25271085 2015
CUI: C3715051
Disease: CRANIOSYNOSTOSIS 3
CRANIOSYNOSTOSIS 3 		0.600 Biomarker disease GENOMICS_ENGLAND Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations. 24736737 2014
CUI: C3715051
Disease: CRANIOSYNOSTOSIS 3
CRANIOSYNOSTOSIS 3 		0.600 CausalMutation disease CLINVAR Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations. 24736737 2014
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		0.600 GermlineCausalMutation disease ORPHANET Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis. 23354436 2013
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		0.600 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
CUI: C3715051
Disease: CRANIOSYNOSTOSIS 3
CRANIOSYNOSTOSIS 3 		0.600 GeneticVariation disease UNIPROT Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis. 23354436 2013
CUI: C3715051
Disease: CRANIOSYNOSTOSIS 3
CRANIOSYNOSTOSIS 3 		0.600 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
CUI: C3715051
Disease: CRANIOSYNOSTOSIS 3
CRANIOSYNOSTOSIS 3 		0.600 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
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		0.600 Biomarker disease HPO
CUI: C3715051
Disease: CRANIOSYNOSTOSIS 3
CRANIOSYNOSTOSIS 3 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		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
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		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
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.460 GeneticVariation disease BEFREE Here, we present the identification of four large rearrangements in TCF12 causing TCF12-related craniosynostosis. 27158814 2016
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.460 GeneticVariation disease BEFREE Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants. 25271085 2015
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.460 GeneticVariation disease BEFREE Heterozygous mutations in TCF12 were recently identified as an important cause of craniosynostosis. 25871887 2015
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.460 GeneticVariation disease BEFREE Using exome sequencing, we identified 38 heterozygous TCF12 mutations in 347 samples from unrelated individuals with craniosynostosis. 23354436 2013
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		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
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.460 Biomarker disease HPO
CUI: C1856266
Disease: Coronal craniosynostosis
Coronal craniosynostosis 		0.440 GeneticVariation disease BEFREE This is the first study that reports the TCF12 mutations in Turkish patients with coronal suture synostosis. 31353793 2019
CUI: C1856266
Disease: Coronal craniosynostosis
Coronal craniosynostosis 		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
CUI: C1856266
Disease: Coronal craniosynostosis
Coronal craniosynostosis 		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
CUI: C1856266
Disease: Coronal craniosynostosis
Coronal craniosynostosis 		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
CUI: C1856266
Disease: Coronal craniosynostosis
Coronal craniosynostosis 		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
CUI: C1856266
Disease: Coronal craniosynostosis
Coronal craniosynostosis 		0.440 GeneticVariation disease CLINVAR
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly 		0.400 GermlineCausalMutation disease ORPHANET Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis. 23354436 2013