EFNB1, ephrin B1, 1947

N. diseases: 134; N. variants: 19
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1876203
Disease: Frontonasal dysplasia
Frontonasal dysplasia
0.310 GeneticVariation disease BEFREE Craniofrontonasal syndrome (CFNS), an X-linked disorder caused by loss-of-function mutations of EFNB1, exhibits a paradoxical sex reversal in phenotypic severity: females characteristically have frontonasal dysplasia, craniosynostosis and additional minor malformations, but males are usually more mildly affected with hypertelorism as the only feature. 23335590 2013
CUI: C1876203
Disease: Frontonasal dysplasia
Frontonasal dysplasia
0.310 Biomarker disease CTD_human Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. 15166289 2004