Disease: Apert syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.310 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: C0001193
Disease: Apert syndrome
Apert syndrome 		0.310 GeneticVariation disease BEFREE Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome (FGFR3 substitution P250R), Saethre-Chotzen syndrome (various mutations in TWIST1) and non-syndromic sagittal synostosis (no mutation detected) were cultured. 19755431 2010
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.310 Biomarker disease CTD_human Clinical and genetic analysis of patients with Saethre-Chotzen syndrome. 15923834 2005