Disease-gene associations mined from literature

Literature associating EFNB1 and congenital diaphragmatic hernia

EFNB1 [ENSP00000204961]

Ephrin-B1 intracellular domain; Cell surface transmembrane ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development . Binding to Eph receptors residing on adjacent cells leads to contact-dependent bidirectional signaling into neighboring cells . Shows high affinity for the receptor tyrosine kinase EPHB1/ELK (PubMed:8070404, PubMed:7973638). Can also bind EPHB2 and EPHB3 . Binds to, and induces collapse of, commissural axons/growth cones in vitro (By similarity). May play a role in constraining the orientation of longitudinally projecting axons (By similarity).

Synonyms:  EFNB1,  EFNB1p,  hEFNB1,  P98172,  P98172p ...

Linkouts:  STRING  Pharos  UniProt  OMIM