Disease: Scaphycephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265534
Disease: Scaphycephaly
Scaphycephaly 		0.620 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: C0265534
Disease: Scaphycephaly
Scaphycephaly 		0.620 GeneticVariation disease BEFREE [2006] reported a TWIST Box "nondisease-causing polymorphism" in a patient with isolated sagittal synostosis. 17343269 2007
CUI: C0265534
Disease: Scaphycephaly
Scaphycephaly 		0.620 GermlineCausalMutation disease ORPHANET [2006] reported a TWIST Box "nondisease-causing polymorphism" in a patient with isolated sagittal synostosis. 17343269 2007
CUI: C0265534
Disease: Scaphycephaly
Scaphycephaly 		0.620 Biomarker disease CTD_human Craniosynostosis in Twist heterozygous mice: a model for Saethre-Chotzen syndrome. 12221714 2002
CUI: C0265534
Disease: Scaphycephaly
Scaphycephaly 		0.620 Biomarker disease HPO