DISEASES

Disease-gene associations mined from literature

Literature associating CCBE1 and Noonan syndrome with multiple lentigines 2

CCBE1 [ENSP00000404464]

Collagen and calcium-binding EGF domain-containing protein 1; Required for lymphangioblast budding and angiogenic sprouting from venous endothelium during embryogenesis; Belongs to the CCBE1 family.

Synonyms:  CCBE1,  CCBE1p,  hCCBE1,  K7EQ81,  Q6UXH8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM