Annotation Detail
Information
- Associated Genes
- EFNB1
- Associated Variants
-
EFNB1 p.Gly151Val (p.G151V)
(
ENST00000204961.5 )
EFNB1 p.Met158Val (p.M158V) ( ENST00000204961.5 )
EFNB1 p.Met158Ile (p.M158I) ( ENST00000204961.5 )
EFNB1 p.Gly151Val (p.G151V) ( ENST00000204961.5 )
EFNB1 p.Met158Val (p.M158V) ( ENST00000204961.5 )
EFNB1 p.Met158Ile (p.M158I) ( ENST00000204961.5 ) - Associated Disease
- Craniofrontonasal dysplasia
- Source Database
- DisGeNET
- Description
- Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome.
- Pubmed
- 15166289
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.564885953697445
- Year of publication
- 2004
Drugs