EFNB1, ephrin B1, 1947

N. diseases: 134; N. variants: 19
Disease: Craniofrontonasal dysplasia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28935170
rs28935170
Entrez Id: 1947
Gene Symbol: EFNB1
EFNB1
CUI: C0220767
Disease:
Craniofrontonasal dysplasia 		0.800 GeneticVariation UNIPROT Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS). 15959873 2005
dbSNP: rs28935170
rs28935170
Entrez Id: 1947
Gene Symbol: EFNB1
EFNB1
CUI: C0220767
Disease:
Craniofrontonasal dysplasia 		0.800 GeneticVariation UNIPROT Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. 15166289 2004
dbSNP: rs28935170
rs28935170
Entrez Id: 1947
Gene Symbol: EFNB1
EFNB1
CUI: C0220767
Disease:
Craniofrontonasal dysplasia 		0.800 GeneticVariation UNIPROT Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome. 15124102 2004
dbSNP: rs28935170
rs28935170
Entrez Id: 1947
Gene Symbol: EFNB1
EFNB1
CUI: C0220767
Disease:
Craniofrontonasal dysplasia 		T 0.800 CausalMutation CLINVAR