Annotation Detail
Information
- Associated Genes
- EFNB1
- Associated Variants
-
EFNB1 p.Gly151Ser (p.G151S)
(
ENST00000204961.5 )
EFNB1 p.Gly151Ser (p.G151S) ( ENST00000204961.5 ) - Associated Disease
- Craniofrontonasal dysplasia
- Source Database
- DisGeNET
- Description
- Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS).
- Pubmed
- 15959873
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.564885953697445
- Year of publication
- 2005
Drugs