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: 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: 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
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: 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: 4893
Gene Symbol: NRAS
NRAS
NRAS proto-oncogene, GTPase 0.390 0.808 0.49
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.300 None 0 0
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: 7276
Gene Symbol: TTR
TTR
transthyretin 0.423 0.885 0.52
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.500 strong 0.987 2 0 1986 2020
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 4625
Gene Symbol: MYH7
MYH7
myosin heavy chain 7 0.516 0.692 4.2E-16
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.500 strong 1.000 1 0 2001 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 0 2006 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: 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: 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: 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: 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