Source: CLINGEN

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 Biomarker CLINGEN Loss of Function of Evc2 in Dental Mesenchyme Leads to Hypomorphic Enamel. 28081373

2017
Entrez Id: 132884
Gene Symbol: EVC2
EVC2
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		1.000 Biomarker CLINGEN Availability of the conditional allele for this gene should facilitate further detailed analyses of the role of EVC2/LIMBIN in pathogenesis of EvC syndrome. genesis 53:612-626, 2015.© 2015 Wiley Periodicals, Inc. 26219237

2015
Entrez Id: 132884
Gene Symbol: EVC2
EVC2
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		1.000 Biomarker CLINGEN 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 Biomarker CLINGEN Mutations identified in a cohort of patients with atrioventricular septal defects as a part of Ellis van Creveld syndrome (EvC syndrome) led us to study the role of two non-homologous genes, EVC and LBN, in heart development and disease pathogenesis. 19251731

2009