Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1947
Gene Symbol: EFNB1
EFNB1
CUI: C0302142
Disease: Deformity
Deformity 		0.040 GeneticVariation BEFREE It involves an X-linked malformation syndrome with a variable phenotype that is caused by mutations in the ephrin-B1 gene. 21215906

2011
Entrez Id: 1947
Gene Symbol: EFNB1
EFNB1
CUI: C0302142
Disease: Deformity
Deformity 		0.040 GeneticVariation BEFREE Mutations of EFNB1 cause the X-linked malformation syndrome craniofrontonasal syndrome (CFNS). 20565770

2010
Entrez Id: 1947
Gene Symbol: EFNB1
EFNB1
CUI: C0302142
Disease: Deformity
Deformity 		0.040 GeneticVariation 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
Entrez Id: 1947
Gene Symbol: EFNB1
EFNB1
CUI: C0302142
Disease: Deformity
Deformity 		0.040 Biomarker BEFREE Craniofrontonasal syndrome (CFNS [MIM 304110]) is an X-linked malformation syndrome characterized by craniofrontonasal dysplasia and extracranial manifestations in heterozygous females. 17941886

2007