TCF12, transcription factor 12, 6938

N. diseases: 102; N. variants: 19
Disease: Brachycephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: C0221356
Disease: Brachycephaly
Brachycephaly 		0.600 Biomarker disease HPO