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: 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: 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: 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: 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: 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: 6016
Gene Symbol: RIT1
RIT1
Ras like without CAAX 1 0.527 0.808 0.13
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.310 None 1.000 0 0 2016 2016
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.310 None 1.000 0 0 2019 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: 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: 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: 5605
Gene Symbol: MAP2K2
MAP2K2
mitogen-activated protein kinase kinase 2 0.534 0.731 0.97
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.300 None 0 0
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
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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