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: 2121
Gene Symbol: EVC
EVC 		EvC ciliary complex subunit 1 0.587 0.577 3.5E-25
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		disease 0.960 definitive 1.000 1 0 2000 2018
Entrez Id: 2121
Gene Symbol: EVC
EVC 		EvC ciliary complex subunit 1 0.587 0.577 3.5E-25
CUI: C0457013
Disease: Weyers acrofacial dysostosis
Weyers acrofacial dysostosis 		disease 0.720 None 1.000 1 0 2000 2018
Entrez Id: 2121
Gene Symbol: EVC
EVC 		EvC ciliary complex subunit 1 0.587 0.577 3.5E-25
CUI: C0152427
Disease: Polydactyly
Polydactyly 		disease 0.400 None 0 0
Entrez Id: 2121
Gene Symbol: EVC
EVC 		EvC ciliary complex subunit 1 0.587 0.577 3.5E-25
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		disease 0.310 limited 1.000 0 0 2014 2014
Entrez Id: 2121
Gene Symbol: EVC
EVC 		EvC ciliary complex subunit 1 0.587 0.577 3.5E-25
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		phenotype 0.300 None 0 0
Entrez Id: 2121
Gene Symbol: EVC
EVC 		EvC ciliary complex subunit 1 0.587 0.577 3.5E-25
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		disease 0.300 None 0 0