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: 10848
Gene Symbol: PPP1R13L
PPP1R13L 		Q8WUF5 protein phosphatase 1 regulatory subunit 13 like 4 0.539 0.692 3.2E-02 0.100 None 0 1
Entrez Id: 6558
Gene Symbol: SLC12A2
SLC12A2 		P55011 solute carrier family 12 member 2 Transporter 3 0.552 0.808 0.96 0.100 None 0 1
Entrez Id: 79804
Gene Symbol: HAND2-AS1
HAND2-AS1 		HAND2 antisense RNA 1 2 0.663 0.462 0.100 None 0 1
Entrez Id: 145781
Gene Symbol: GCOM1
GCOM1 		P0CAP1 P0CAP2 Q6EEV4 GRINL1A complex locus 1 1 0.805 0.308 2.4E-19 0.100 None 0 1
Entrez Id: 122622
Gene Symbol: ADSS1
ADSS1 		Q8N142 adenylosuccinate synthase 1 Enzyme 10 0.722 0.385 2.8E-07 0.100 None 0 1
Entrez Id: 4633
Gene Symbol: MYL2
MYL2 		P10916 myosin light chain 2 Calcium-binding protein 7 0.601 0.615 2.7E-08 0.100 None 0 1
Entrez Id: 10102
Gene Symbol: TSFM
TSFM 		P43897 Ts translation elongation factor, mitochondrial Nucleic acid binding 2 0.736 0.423 1.9E-09 0.100 None 0 1
Entrez Id: 100820829
Gene Symbol: MYZAP
MYZAP 		P0CAP1 P0CAP2 Q6EEV4 myocardial zonula adherens protein 1 0.769 0.308 4.4E-17 0.100 None 0 1
Entrez Id: 9464
Gene Symbol: HAND2
HAND2 		P61296 heart and neural crest derivatives expressed 2 2 0.612 0.500 0.40 0.100 None 0 1
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1 		P15382 potassium voltage-gated channel subfamily E regulatory subunit 1 Ion channel 9 0.588 0.615 3.4E-03 0.100 None 0 1
Entrez Id: 8557
Gene Symbol: TCAP
TCAP 		O15273 titin-cap 6 0.682 0.538 0.19 0.110 None 1.000 1 1 2000 2004
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2 		P13473 lysosomal associated membrane protein 2 Transporter 5 0.552 0.731 0.27 0.110 None 1.000 0 2 2008 2008
Entrez Id: 91624
Gene Symbol: NEXN
NEXN 		Q0ZGT2 nexilin F-actin binding protein 4 0.695 0.269 3.9E-11 0.110 None 1.000 1 1 2009 2009
Entrez Id: 9997
Gene Symbol: SCO2
SCO2 		O43819 synthesis of cytochrome C oxidase 2 Enzyme 6 0.479 0.846 7.5E-07 0.100 None 1.000 1 1 2010 2010
Entrez Id: 29781
Gene Symbol: NCAPH2
NCAPH2 		Q6IBW4 non-SMC condensin II complex subunit H2 5 0.805 0.385 2.9E-04 0.100 None 1.000 1 1 2010 2010
Entrez Id: 10529
Gene Symbol: NEBL
NEBL 		O76041 nebulette 2 0.650 0.692 1.8E-36 0.110 None 1.000 0 1 2010 2010
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 2010 2013
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 45 0.418 0.885 0.85 0.410 None 1.000 0 1 2014 2014
Entrez Id: 387119
Gene Symbol: CEP85L
CEP85L 		Q5SZL2 centrosomal protein 85 like 9 0.656 0.423 4.5E-09 0.100 None 1.000 14 3 2003 2015
Entrez Id: 7414
Gene Symbol: VCL
VCL 		P18206 vinculin 4 0.575 0.654 4.7E-02 0.160 None 1.000 2 8 2002 2015
Entrez Id: 1756
Gene Symbol: DMD
DMD 		P11532 dystrophin 35 0.423 0.923 1.00 0.700 None 0.929 0 1 1993 2015
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP 		Q99797 mitochondrial intermediate peptidase Enzyme 51 0.666 0.615 1.6E-15 0.100 None 1.000 1 1 2016 2016
Entrez Id: 1832
Gene Symbol: DSP
DSP 		P15924 desmoplakin Cellular structure 28 0.514 0.808 1.00 0.130 None 1.000 18 30 1999 2017
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		Q14896 myosin binding protein C3 25 0.593 0.385 8.0E-11 0.150 None 1.000 10 6 1998 2017
Entrez Id: 1829
Gene Symbol: DSG2
DSG2 		Q14126 desmoglein 2 Cell adhesion 6 0.601 0.692 2.8E-10 0.120 None 1.000 5 2 2008 2017