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: 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: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.384 0.885 1.00
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.200 None 0.957 4 6 2000 2020
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: 387119
Gene Symbol: CEP85L
CEP85L
centrosomal protein 85 like 0.656 0.423 4.5E-09
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.100 None 1.000 3 3 2006 2013
Entrez Id: 1832
Gene Symbol: DSP
DSP
desmoplakin 0.514 0.808 1.00
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.500 None 0.966 2 13 2002 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: 4285
Gene Symbol: MIPEP
MIPEP
mitochondrial intermediate peptidase 0.666 0.615 1.6E-15
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.100 None 1.000 1 1 2016 2016
Entrez Id: 57538
Gene Symbol: ALPK3
ALPK3
alpha kinase 3 0.792 0.462 8.4E-25
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.140 None 1.000 1 1 2012 2019
Entrez Id: 55210
Gene Symbol: ATAD3A
ATAD3A
ATPase family AAA domain containing 3A 0.628 0.692 4.1E-09
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.100 None 1.000 1 1 2016 2016
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
ATP binding cassette subfamily C member 9 0.552 0.692 9.4E-09
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.400 None 1.000 1 3 2012 2012
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: 54344
Gene Symbol: DPM3
DPM3
dolichyl-phosphate mannosyltransferase subunit 3, regulatory 0.839 0.308 0.23
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.110 None 1.000 0 1 2017 2017
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: 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: 8048
Gene Symbol: CSRP3
CSRP3
cysteine and glycine rich protein 3 0.572 0.731 1.6E-04
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.470 None 1.000 0 3 2011 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: 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
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: 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: 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: 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: 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: 70
Gene Symbol: ACTC1
ACTC1
actin alpha cardiac muscle 1 0.610 0.538 0.74
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.460 None 1.000 0 2 1999 2015
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