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: 5318
Gene Symbol: PKP2
PKP2 		plakophilin 2 0.606 0.538 3.1E-18
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		disease 0.500 strong 0.974 3 0 1985 2019
Entrez Id: 6262
Gene Symbol: RYR2
RYR2 		ryanodine receptor 2 0.539 0.615 1.00
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		disease 0.400 None 1.000 1 0 2001 2014
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		disease 0.360 strong 0.857 2 0 2008 2019