Source: CLINGEN

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 8 0 1995 2020
Entrez Id: 6336
Gene Symbol: SCN10A
SCN10A 		sodium voltage-gated channel alpha subunit 10 0.566 0.692 9.9E-38
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		disease 0.800 disputed 0.929 8 0 1998 2019
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 8 0 1996 2016
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 4 0 2005 2015
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 3 0 1999 2019
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 6 0 1993 2019
Entrez Id: 3752
Gene Symbol: KCND3
KCND3 		potassium voltage-gated channel subfamily D member 3 0.619 0.615 0.99
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		disease 0.560 disputed 1.000 5 0 1999 2019
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B 		sodium voltage-gated channel beta subunit 1 0.575 0.538 0.10
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		disease 0.550 disputed 1.000 7 0 2008 2019
Entrez Id: 29098
Gene Symbol: RANGRF
RANGRF 		RAN guanine nucleotide release factor 0.751 0.231 2.4E-05
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		disease 0.550 disputed 0.889 6 0 2008 2019
Entrez Id: 55800
Gene Symbol: SCN3B
SCN3B 		sodium voltage-gated channel beta subunit 3 0.686 0.269 5.1E-02
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		disease 0.530 disputed 0.917 11 0 2001 2016
Entrez Id: 54795
Gene Symbol: TRPM4
TRPM4 		transient receptor potential cation channel subfamily M member 4 0.633 0.577 5.7E-33
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		disease 0.530 disputed 1.000 7 0 2012 2018
Entrez Id: 3764
Gene Symbol: KCNJ8
KCNJ8 		potassium inwardly rectifying channel subfamily J member 8 0.619 0.538 0.38
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		disease 0.520 disputed 1.000 6 0 2002 2014
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 6 0 2000 2012
Entrez Id: 6327
Gene Symbol: SCN2B
SCN2B 		sodium voltage-gated channel beta subunit 2 0.678 0.192 1.7E-03
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		disease 0.510 disputed 1.000 5 0 2009 2016
Entrez Id: 7871
Gene Symbol: SLMAP
SLMAP 		sarcolemma associated protein 0.686 0.462 1.00
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		disease 0.510 disputed 1.000 4 0 1997 2012
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 3 0 2005 2012
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		potassium voltage-gated channel subfamily H member 2 0.522 0.731 1.00
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		disease 0.450 disputed 1.000 6 0 2002 2020
Entrez Id: 23171
Gene Symbol: GPD1L
GPD1L 		glycerol-3-phosphate dehydrogenase 1 like 0.674 0.308 3.8E-02
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		disease 0.360 disputed 0.833 3 0 2007 2018
Entrez Id: 10021
Gene Symbol: HCN4
HCN4 		hyperpolarization activated cyclic nucleotide gated potassium channel 4 0.617 0.269 1.00
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		disease 0.320 disputed 1.000 4 0 2004 2019
Entrez Id: 287
Gene Symbol: ANK2
ANK2 		ankyrin 2 0.626 0.538 1.00
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		disease 0.300 disputed 1.000 4 0 2004 2016