Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2121
Gene Symbol: EVC
EVC
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		0.960 GermlineCausalMutation ORPHANET In 5 unrelated cases with a clinical diagnosis of Ellis van Creveld syndrome, we did not find any mutation in either EVC or EVC2 genes. 23220543

2013
Entrez Id: 2121
Gene Symbol: EVC
EVC
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		0.960 GermlineCausalMutation ORPHANET Ciliary disorder of the skeleton. 22791528

2012
Entrez Id: 2121
Gene Symbol: EVC
EVC
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		0.960 GermlineCausalMutation ORPHANET A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family. 19744229

2010
Entrez Id: 2121
Gene Symbol: EVC
EVC
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		0.960 GermlineCausalMutation ORPHANET Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene. 18947413

2008