DISEASES

Disease-gene associations mined from literature

Literature associating EVC and ventricular septal defect

EVC [ENSP00000264956]

Ellis-van Creveld syndrome protein; Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Involved in endochondral growth and skeletal development.

Synonyms:  EVC,  E9PCN4,  EVC-001,  EVC-002,  EVC-004 ...

Linkouts:  STRING  Pharos  UniProt  OMIM