Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1947
Gene Symbol: EFNB1
EFNB1
CUI: C0432106
Disease: Midline facial cleft - Tessier cleft 0
Midline facial cleft - Tessier cleft 0 		0.010 GeneticVariation 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