Disease-gene associations mined from literature

Literature associating SEMA3E and CHARGE syndrome

SEMA3E [ENSP00000303212]

Sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E; Plays an important role in signaling via the cell surface receptor PLXND1. Mediates reorganization of the actin cytoskeleton, leading to the retraction of cell projections. Promotes focal adhesion disassembly and inhibits adhesion of endothelial cells to the extracellular matrix. Regulates angiogenesis, both during embryogenesis and after birth. Can down- regulate sprouting angiogenesis. Required for normal vascular patterning during embryogenesis. Plays an important role in ensuring the specificity of synapse formation (By similarity); Immunoglobulin like domain containing

Synonyms:  SEMA3E,  SEMA3Ep,  hSEMA3E,  C9JVH5,  F8WCZ5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM