Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2121
Gene Symbol: EVC
EVC
CUI: C0457013
Disease: Weyers acrofacial dysostosis
Weyers acrofacial dysostosis 		0.720 CausalMutation CLINVAR Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. 29068549

2018
Entrez Id: 2121
Gene Symbol: EVC
EVC
CUI: C0457013
Disease: Weyers acrofacial dysostosis
Weyers acrofacial dysostosis 		0.720 CausalMutation CLINVAR Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. 23220543

2013
Entrez Id: 2121
Gene Symbol: EVC
EVC
CUI: C0457013
Disease: Weyers acrofacial dysostosis
Weyers acrofacial dysostosis 		0.720 GeneticVariation CLINVAR 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: C0457013
Disease: Weyers acrofacial dysostosis
Weyers acrofacial dysostosis 		0.720 CausalMutation CLINVAR Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling. 19810119

2009
Entrez Id: 2121
Gene Symbol: EVC
EVC
CUI: C0457013
Disease: Weyers acrofacial dysostosis
Weyers acrofacial dysostosis 		0.720 CausalMutation CLINVAR Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. 17024374

2007
Entrez Id: 2121
Gene Symbol: EVC
EVC
CUI: C0457013
Disease: Weyers acrofacial dysostosis
Weyers acrofacial dysostosis 		0.720 CausalMutation CLINVAR Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. 10700184

2000