Source: CLINVAR

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 66 49 1985 2019
Entrez Id: 1829
Gene Symbol: DSG2
DSG2 		desmoglein 2 0.601 0.692 2.8E-10
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		disease 0.200 None 0.981 24 11 2006 2020
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		disease 0.200 None 1.000 17 32 1999 2019
Entrez Id: 1824
Gene Symbol: DSC2
DSC2 		desmocollin 2 0.610 0.538 5.2E-08
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		disease 0.200 None 1.000 7 7 2006 2019
Entrez Id: 79188
Gene Symbol: TMEM43
TMEM43 		transmembrane protein 43 0.653 0.462 1.2E-12
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		disease 0.200 None 1.000 6 1 2008 2019
Entrez Id: 3728
Gene Symbol: JUP
JUP 		junction plakoglobin 0.628 0.500 8.0E-04
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		disease 0.190 None 1.000 0 1 2002 2019
Entrez Id: 1674
Gene Symbol: DES
DES 		desmin 0.460 0.846 8.8E-03
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		disease 0.150 None 1.000 0 3 2010 2015
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		disease 0.140 None 1.000 0 2 2012 2016
Entrez Id: 29119
Gene Symbol: CTNNA3
CTNNA3 		catenin alpha 3 0.612 0.692 1.0E-12
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		disease 0.130 None 1.000 0 1 2011 2015
Entrez Id: 100652770
Gene Symbol: DSG2-AS1
DSG2-AS1 		DSG2 antisense RNA 1 0.890 0.077
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		disease 0.100 None 1.000 3 1 2006 2009
Entrez Id: 88
Gene Symbol: ACTN2
ACTN2 		actinin alpha 2 0.686 0.462 1.00
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		disease 0.100 None 0 1