EFNB1, ephrin B1, 1947

N. diseases: 134; N. variants: 19
Disease: Coronal craniosynostosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1856266
Disease: Coronal craniosynostosis
Coronal craniosynostosis 		0.110 Biomarker disease BEFREE Variants were identified most frequently in TCF12 (N = 22) and EFNB1 (N = 8), typically in individuals with nonsyndromic coronal craniosynostosis or TWIST1-negative clinically suspected Saethre-Chotzen syndrome. 29215649 2018
CUI: C1856266
Disease: Coronal craniosynostosis
Coronal craniosynostosis 		0.110 Biomarker disease HPO