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: 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: 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: 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
Entrez Id: 91624
Gene Symbol: NEXN
NEXN
nexilin F-actin binding protein 0.695 0.269 3.9E-11
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.430 None 1.000 0 0 2010 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 0 2013 2019
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.420 None 1.000 0 0 2004 2007
Entrez Id: 3728
Gene Symbol: JUP
JUP
junction plakoglobin 0.628 0.500 8.0E-04
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.410 None 1.000 0 0 2011 2011
Entrez Id: 11155
Gene Symbol: LDB3
LDB3
LIM domain binding 3 0.659 0.385 9.6E-06
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.410 None 1.000 0 0 2017 2017
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
myosin light chain 3 0.695 0.308 8.8E-02
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.410 None 1.000 0 0 2018 2018
Entrez Id: 57158
Gene Symbol: JPH2
JPH2
junctophilin 2 0.736 0.154 4.5E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.410 None 1.000 0 0 2007 2007
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 0 0 2012 2012
Entrez Id: 4624
Gene Symbol: MYH6
MYH6
myosin heavy chain 6 0.581 0.615 1.6E-32
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.380 None 1.000 0 0 2011 2019
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.380 None 1.000 0 0 2008 2018
Entrez Id: 2548
Gene Symbol: GAA
GAA
glucosidase alpha, acid 0.631 0.577 2.8E-18
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.360 limited 0.857 1 0 1994 2018
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
solute carrier family 22 member 5 0.608 0.731 5.3E-16
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.350 limited 1.000 1 0 2002 2018
Entrez Id: 7134
Gene Symbol: TNNC1
TNNC1
troponin C1, slow skeletal and cardiac type 0.647 0.462 0.68
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.350 None 1.000 0 0 2007 2019
Entrez Id: 859
Gene Symbol: CAV3
CAV3
caveolin 3 0.564 0.692 5.5E-03
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.350 None 1.000 0 0 2003 2016
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.330 None 1.000 2 0 2004 2019
Entrez Id: 2218
Gene Symbol: FKTN
FKTN
fukutin 0.511 0.692 8.7E-07
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.320 None 1.000 0 0 2013 2019
Entrez Id: 27063
Gene Symbol: ANKRD1
ANKRD1
ankyrin repeat domain 1 0.628 0.692 2.6E-10
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.320 None 1.000 0 0 2017 2019
Entrez Id: 55679
Gene Symbol: LIMS2
LIMS2
LIM zinc finger domain containing 2 0.751 0.308 5.1E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.310 limited 1.000 1 0 2015 2015
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
SOS Ras/Rac guanine nucleotide exchange factor 1 0.485 0.808 1.00
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.310 None 1.000 0 0 2019 2019
Entrez Id: 8557
Gene Symbol: TCAP
TCAP
titin-cap 0.682 0.538 0.19
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.310 None 1.000 0 0 2004 2004
Entrez Id: 88
Gene Symbol: ACTN2
ACTN2
actinin alpha 2 0.686 0.462 1.00
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.310 None 1.000 0 0 2019 2019
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
mitogen-activated protein kinase kinase 1 0.439 0.846 0.90
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.310 None 1.000 0 0 2017 2017