Source: CLINVAR ×
Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 5318
Gene Symbol: PKP2
PKP2 		Q99959 plakophilin 2 Cellular structure 10 0.606 0.538 3.1E-18 0.500 strong 0.974 66 49 1985 2019
Entrez Id: 1829
Gene Symbol: DSG2
DSG2 		Q14126 desmoglein 2 Cell adhesion 6 0.601 0.692 2.8E-10 0.200 None 0.981 24 11 2006 2020
Entrez Id: 1832
Gene Symbol: DSP
DSP 		P15924 desmoplakin Cellular structure 28 0.514 0.808 1.00 0.200 None 1.000 17 32 1999 2019
Entrez Id: 1824
Gene Symbol: DSC2
DSC2 		Q02487 desmocollin 2 Cell adhesion 5 0.610 0.538 5.2E-08 0.200 None 1.000 7 7 2006 2019
Entrez Id: 79188
Gene Symbol: TMEM43
TMEM43 		Q9BTV4 transmembrane protein 43 4 0.653 0.462 1.2E-12 0.200 None 1.000 6 1 2008 2019
Entrez Id: 3728
Gene Symbol: JUP
JUP 		P14923 junction plakoglobin 3 0.628 0.500 8.0E-04 0.190 None 1.000 0 1 2002 2019
Entrez Id: 1674
Gene Symbol: DES
DES 		P17661 desmin 24 0.460 0.846 8.8E-03 0.150 None 1.000 0 3 2010 2015
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		P02545 lamin A/C 46 0.384 0.885 1.00 0.140 None 1.000 0 2 2012 2016
Entrez Id: 29119
Gene Symbol: CTNNA3
CTNNA3 		Q9UI47 catenin alpha 3 Cellular structure 2 0.612 0.692 1.0E-12 0.130 None 1.000 0 1 2011 2015
Entrez Id: 100652770
Gene Symbol: DSG2-AS1
DSG2-AS1 		DSG2 antisense RNA 1 5 0.890 0.077 0.100 None 1.000 3 1 2006 2009
Entrez Id: 88
Gene Symbol: ACTN2
ACTN2 		P35609 actinin alpha 2 4 0.686 0.462 1.00 0.100 None 0 1