Disease-gene associations mined from literature

Literature associating EVC2 and acromesomelic dysplasia, Hunter-Thompson type

EVC2 [ENSP00000342144]

Ellis-van Creveld syndrome protein 2; Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Plays a critical role in bone formation and skeletal development. May be involved in early embryonic morphogenesis.

Synonyms:  EVC2,  EVC2p,  hEVC2,  E9PFT2,  Q4W5A4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM