Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
0.300 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: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
0.300 Biomarker disease CTD_human Clinical and genetic analysis of patients with Saethre-Chotzen syndrome. 15923834 2005