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: 6331
Gene Symbol: SCN5A
SCN5A 		sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		disease 1.000 definitive 0.984 2 0 1995 2020
Entrez Id: 5318
Gene Symbol: PKP2
PKP2 		plakophilin 2 0.606 0.538 3.1E-18
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		disease 0.650 disputed 1.000 1 0 1996 2016
Entrez Id: 23630
Gene Symbol: KCNE5
KCNE5 		potassium voltage-gated channel subfamily E regulatory subunit 5 0.666 0.500 0.12
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		disease 0.620 disputed 1.000 2 0 1999 2019
Entrez Id: 781
Gene Symbol: CACNA2D1
CACNA2D1 		calcium voltage-gated channel auxiliary subunit alpha2delta 1 0.641 0.500 1.00
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		disease 0.620 disputed 1.000 1 0 2005 2015
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C 		calcium voltage-gated channel subunit alpha1 C 0.510 0.846 1.00
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		disease 0.570 disputed 1.000 1 0 1993 2019
Entrez Id: 10008
Gene Symbol: KCNE3
KCNE3 		potassium voltage-gated channel subfamily E regulatory subunit 3 0.666 0.423 0.47
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		disease 0.510 disputed 1.000 1 0 2005 2012
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9 		ATP binding cassette subfamily C member 9 0.552 0.692 9.4E-09
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		disease 0.510 None 1.000 1 0 2014 2016
Entrez Id: 783
Gene Symbol: CACNB2
CACNB2 		calcium voltage-gated channel auxiliary subunit beta 2 0.659 0.538 2.7E-06
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		disease 0.510 disputed 1.000 1 0 2000 2012