EFNB1, ephrin B1, 1947

N. diseases: 134; N. variants: 19
Disease: Congenital Abnormality ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.050 GeneticVariation group BEFREE It involves an X-linked malformation syndrome with a variable phenotype that is caused by mutations in the ephrin-B1 gene. 21215906 2011
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.050 GeneticVariation group BEFREE Mutations of EFNB1 cause the X-linked malformation syndrome craniofrontonasal syndrome (CFNS). 20565770 2010
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.050 GeneticVariation group BEFREE Craniofrontonasal syndrome (CFNS) is an X-linked malformation syndrome with variable phenotype that is caused by mutations in the ephrin-B1 gene (EFNB1). 18043713 2008
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.050 Biomarker group BEFREE Craniofrontonasal syndrome (CFNS [MIM 304110]) is an X-linked malformation syndrome characterized by craniofrontonasal dysplasia and extracranial manifestations in heterozygous females. 17941886 2007
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.050 GeneticVariation group BEFREE Since Efnb1 mutant mice display a spectrum of malformations and an unusual inheritance reminiscent of CFNS, we analyzed the EFNB1 gene in three families with CFNS. 15124102 2004