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: 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: 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: 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: 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: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.300 None 0 0
Entrez Id: 845
Gene Symbol: CASQ2
CASQ2
calsequestrin 2 0.691 0.385 1.4E-12
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.310 None 1.000 0 0 2015 2015
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: 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: 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: 1674
Gene Symbol: DES
DES
desmin 0.460 0.846 8.8E-03
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.600 strong 1.000 1 0 1992 2019
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: 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: 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: 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: 1837
Gene Symbol: DTNA
DTNA
dystrobrevin alpha 0.695 0.385 0.63
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.300 None 0 0
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: 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: 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: 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: 57798
Gene Symbol: GATAD1
GATAD1
GATA zinc finger domain containing 1 0.736 0.385 0.43
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.300 None 0 0
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: 3265
Gene Symbol: HRAS
HRAS
HRas proto-oncogene, GTPase 0.378 0.885 8.0E-02
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.300 None 0 0
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: 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: 3845
Gene Symbol: KRAS
KRAS
KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.300 None 0 0