Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1947
Gene Symbol: EFNB1
EFNB1
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 GermlineCausalMutation ORPHANET Mutations in the EFNB1 gene in Xq12 are responsible for familial and sporadic CFNS. 15959873

2005
Entrez Id: 1947
Gene Symbol: EFNB1
EFNB1
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 GermlineCausalMutation ORPHANET We conclude that mutations in EFNB1 cause CFNS. 15124102

2004
Entrez Id: 1947
Gene Symbol: EFNB1
EFNB1
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 GermlineCausalMutation ORPHANET 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