Source: GENOMICS_ENGLAND

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 132884
Gene Symbol: EVC2
EVC2 		EvC ciliary complex subunit 2 0.585 0.692 1.0E-34
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		disease 1.000 definitive 1.000 2 0 2002 2018
Entrez Id: 132884
Gene Symbol: EVC2
EVC2 		EvC ciliary complex subunit 2 0.585 0.692 1.0E-34
CUI: C0457013
Disease: Weyers acrofacial dysostosis
Weyers acrofacial dysostosis 		disease 0.740 None 1.000 1 0 2006 2013
Entrez Id: 132884
Gene Symbol: EVC2
EVC2 		EvC ciliary complex subunit 2 0.585 0.692 1.0E-34
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		disease 0.310 None 1.000 0 0 2016 2016
Entrez Id: 132884
Gene Symbol: EVC2
EVC2 		EvC ciliary complex subunit 2 0.585 0.692 1.0E-34
CUI: C0152427
Disease: Polydactyly
Polydactyly 		disease 0.300 None 0 0
Entrez Id: 132884
Gene Symbol: EVC2
EVC2 		EvC ciliary complex subunit 2 0.585 0.692 1.0E-34
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		phenotype 0.300 None 0 0