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: 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: 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: 93649
Gene Symbol: MYOCD
MYOCD
myocardin 0.619 0.615 0.33
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.300 strong 1.000 1 0 2019 2019
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: 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: 65055
Gene Symbol: REEP1
REEP1
receptor accessory protein 1 0.653 0.423 0.99
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.300 strong 1.000 1 0 2012 2012
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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