Disease: Acrocephalosyndactylia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1510455
Disease: Acrocephalosyndactylia
Acrocephalosyndactylia 		0.320 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: C1510455
Disease: Acrocephalosyndactylia
Acrocephalosyndactylia 		0.320 Biomarker disease LHGDN Altered Twist1 and Hand2 dimerization is associated with Saethre-Chotzen syndrome and limb abnormalities. 15735646 2005
CUI: C1510455
Disease: Acrocephalosyndactylia
Acrocephalosyndactylia 		0.320 Biomarker disease CTD_human Clinical and genetic analysis of patients with Saethre-Chotzen syndrome. 15923834 2005
CUI: C1510455
Disease: Acrocephalosyndactylia
Acrocephalosyndactylia 		0.320 GeneticVariation disease LHGDN Characterization of a dominant negative C. elegans Twist mutant protein with implications for human Saethre-Chotzen syndrome. 12015302 2002