Source: GENOMICS_ENGLAND

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: 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 0 2004 2019
Entrez Id: 1756
Gene Symbol: DMD
DMD
dystrophin 0.423 0.923 1.00
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.700 None 0.962 0 0 1993 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 0 0 1993 2019
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
myosin binding protein C3 0.593 0.385 8.0E-11
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.700 None 1.000 0 0 2007 2020
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 0 2006 2018
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
sarcoglycan delta 0.641 0.615 2.1E-03
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.580 None 0.900 0 0 1997 2015
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 0 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 0 0 2003 2018
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 0 2003 2020
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 0 0 2002 2019
Entrez Id: 2010
Gene Symbol: EMD
EMD
emerin 0.542 0.731 0.93
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.500 None 0.909 0 0 1998 2019
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
lysosomal associated membrane protein 2 0.552 0.731 0.27
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.500 None 1.000 0 0 2000 2019
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB
crystallin alpha B 0.515 0.731 2.2E-02
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.500 None 0.929 0 0 2003 2019
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 0 2005 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 0 2006 2019
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 0 2011 2019
Entrez Id: 1829
Gene Symbol: DSG2
DSG2
desmoglein 2 0.601 0.692 2.8E-10
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.460 None 1.000 0 0 2006 2019
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 0 1999 2015
Entrez Id: 1824
Gene Symbol: DSC2
DSC2
desmocollin 2 0.610 0.538 5.2E-08
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.450 None 1.000 0 0 2013 2019
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 0 0 2013 2019
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 0 2001 2017
Entrez Id: 4633
Gene Symbol: MYL2
MYL2
myosin light chain 2 0.601 0.615 2.7E-08
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.440 None 1.000 0 0 2007 2019
Entrez Id: 2717
Gene Symbol: GLA
GLA
galactosidase alpha 0.537 0.769 1.00
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.440 None 0.750 0 0 2010 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 0 2009 2019
Entrez Id: 84665
Gene Symbol: MYPN
MYPN
myopalladin 0.612 0.615 2.6E-06
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.430 None 1.000 0 0 2012 2019