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: 85366
Gene Symbol: MYLK2
MYLK2
myosin light chain kinase 2 0.705 0.269 0.23
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.100 None 0 1
Entrez Id: 5350
Gene Symbol: PLN
PLN
phospholamban 0.595 0.577 0.45
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.700 definitive 1.000 3 3 1993 2019
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
plakophilin 2 0.606 0.538 3.1E-18
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.500 None 1.000 0 8 2006 2019
Entrez Id: 51422
Gene Symbol: PRKAG2
PRKAG2
protein kinase AMP-activated non-catalytic subunit gamma 2 0.582 0.654 1.00
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.500 None 1.000 2 3 2003 2018
Entrez Id: 282996
Gene Symbol: RBM20
RBM20
RNA binding motif protein 20 0.716 0.269 0.99
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.440 None 1.000 0 2 2009 2019
Entrez Id: 100529097
Gene Symbol: RPL36A-HNRNPH2
RPL36A-HNRNPH2
RPL36A-HNRNPH2 readthrough 0.861 0.154 0.36
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.100 None 0 3
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
ryanodine receptor 2 0.539 0.615 1.00
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.440 None 1.000 0 2 2001 2017
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
sodium voltage-gated channel beta subunit 1 0.575 0.538 0.10
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.100 None 0 1
Entrez Id: 284439
Gene Symbol: SLC25A42
SLC25A42
solute carrier family 25 member 42 0.760 0.269 0.49
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.100 None 0 1
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
succinate dehydrogenase complex subunit D 0.472 0.885 0.34
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.110 None 1.000 1 1 2015 2015
Entrez Id: 6901
Gene Symbol: TAZ
TAZ
tafazzin 0.477 0.808 0.73
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.500 None 1.000 0 1 2003 2020
Entrez Id: 7273
Gene Symbol: TTN
TTN
titin 0.470 0.885 2.6E-96
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.500 None 1.000 0 29 2005 2019
Entrez Id: 79188
Gene Symbol: TMEM43
TMEM43
transmembrane protein 43 0.653 0.462 1.2E-12
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.420 None 1.000 0 1 2013 2019
Entrez Id: 7276
Gene Symbol: TTR
TTR
transthyretin 0.423 0.885 0.52
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.500 strong 0.987 0 3 1986 2020
Entrez Id: 7168
Gene Symbol: TPM1
TPM1
tropomyosin 1 0.560 0.615 1.0E-03
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.450 None 1.000 5 3 2013 2019
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
troponin I3, cardiac type 0.520 0.769 9.6E-02
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.690 None 1.000 0 5 2006 2018
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
troponin T2, cardiac type 0.601 0.423 2.0E-03
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.700 None 1.000 0 3 2004 2019
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
TTN antisense RNA 1 0.599 0.577
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.100 None 0 28
Entrez Id: 7386
Gene Symbol: UQCRFS1
UQCRFS1
ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 0.558 0.654 0.19
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.100 None 0 3
Entrez Id: 7414
Gene Symbol: VCL
VCL
vinculin 0.575 0.654 4.7E-02
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.480 None 1.000 0 1 2006 2019