EFNB1, ephrin B1, 1947

N. diseases: 134; N. variants: 19
Disease: Craniofrontonasal dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 GeneticVariation disease BEFREE Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1. 24281372 2014
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 GeneticVariation disease BEFREE Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes. 23335590 2013
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 GeneticVariation disease BEFREE We conclude that mutations in EFNB1 cause CFNS. 15124102 2004
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 GeneticVariation disease BEFREE A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia. 20734337 2010
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 GeneticVariation disease CLINVAR
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 GeneticVariation disease BEFREE CFNS is caused by mutations in the Ephrin 1 gene (EFNB1) located at Xq13.1, which encodes the transmembrane protein Ephrin B1. 31285555 2019
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 GeneticVariation disease BEFREE Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia. 16639408 2006
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 GeneticVariation disease BEFREE Here, we report a CFNS patient with a novel EFNB1 missense mutation present at the interface between EFNB1 and its receptor proteins. 17300690 2007
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 GeneticVariation disease UNIPROT Mutations in the EFNB1 gene in Xq12 are responsible for familial and sporadic CFNS. 15959873 2005
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 GeneticVariation disease BEFREE A novel EFNB1 mutation in a patient with craniofrontonasal syndrome and right hallux duplication. 23845783 2013
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 GeneticVariation disease BEFREE A novel mutation in EFNB1, probably with a dominant negative effect, underlying craniofrontonasal syndrome. 16526919 2006
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 GeneticVariation disease BEFREE Here, we show that the classical female CFNS phenotype is caused by heterozygous loss-of-function mutations in EFNB1, which encodes a member of the ephrin family of transmembrane ligands for Eph receptor tyrosine kinases. 15166289 2004
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 GeneticVariation disease BEFREE Mutations of EFNB1, which encodes a member of the ephrin family of transmembrane ligands for Eph receptor tyrosine kinases, is the cause of CFNS. 28140668 2018
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 GeneticVariation disease BEFREE The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function. 20565770 2010
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 GeneticVariation disease BEFREE The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males. 16685650 2006
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 GeneticVariation disease UNIPROT Although EFNB1 is X-inactivated, we did not observe markedly skewed X-inactivation in either blood or cranial periosteum from females with CFNS, indicating that lack of ephrin-B1 does not compromise cell viability in these tissues. 15166289 2004
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 GeneticVariation disease BEFREE Only a small number of genes have been associated with FND phenotypes until now, the first gene being EFNB1, related to craniofrontonasal syndrome (CFNS) with craniosynostosis in addition, and more recently the aristaless-like homeobox genes ALX3, ALX4, and ALX1, which have been related with distinct phenotypes named FND1, FND2, and FND3 respectively. 24376213 2014
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 GeneticVariation disease BEFREE The replacement of Glu125 with Lys, which lies within the G-H loop, part of the dimerization ligand-receptor interface, is expected to disrupt the interaction between the Eph receptor and ephrin B1 ligand, thus leading to craniofrontonasal syndrome. 21385071 2012
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 GeneticVariation disease BEFREE Mutations in the EFNB1 gene in Xq12 are responsible for familial and sporadic CFNS. 15959873 2005
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 GeneticVariation disease UNIPROT We conclude that mutations in EFNB1 cause CFNS. 15124102 2004
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 GeneticVariation disease BEFREE Craniofrontonasal syndrome in a male due to chromosomal mosaicism involving EFNB1: further insights into a genetic paradox. 23614707 2014
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 Biomarker disease GENOMICS_ENGLAND We conclude that mutations in EFNB1 cause CFNS. 15124102 2004
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 Biomarker disease BEFREE Mutations in the ephrin A4 (EFNA4) and ephrin B1 (EFNB1) ligands have been linked to nonsyndromic CS and craniofrontonasal syndrome, respectively, in patient samples. 28135115 2018
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 Biomarker disease BEFREE Because the encoded protein ephrin-B1 is involved in migration of neural crest cells we propose that CFNS is a novel type of neurocrestopathy. 16143553 2006
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 Biomarker disease CTD_human We conclude that mutations in EFNB1 cause CFNS. 15124102 2004