Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 132884
Gene Symbol: EVC2
EVC2
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		1.000 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: 132884
Gene Symbol: EVC2
EVC2
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		1.000 GermlineCausalMutation ORPHANET Mutations have been identified in dynein motor (DYNC2H1), in intraflagellar transport (IFT) complexes (IFT80, IFT122, IFT43, WDR35, WDR19, and TTC21B) as well as in genes responsible for the basal body (NEK1, EVC, and EVC2). 22791528

2012
Entrez Id: 132884
Gene Symbol: EVC2
EVC2
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		1.000 GermlineCausalMutation ORPHANET Affected individuals with mutations in EVC and EVC2 have the typical spectrum of features and are phenotypically indistinguishable. 12571802

2003
Entrez Id: 132884
Gene Symbol: EVC2
EVC2
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		1.000 GermlineCausalMutation ORPHANET In this report we describe a novel gene, EVC2, that is mutated in an Ashkenazi individual with EvC syndrome. 12468274

2002