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: 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: 10529
Gene Symbol: NEBL
NEBL
nebulette 0.650 0.692 1.8E-36
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.300 None 0 0
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: 3910
Gene Symbol: LAMA4
LAMA4
laminin subunit alpha 4 0.682 0.577 1.4E-24
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: 5318
Gene Symbol: PKP2
PKP2
plakophilin 2 0.606 0.538 3.1E-18
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.500 None 1.000 0 0 2006 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: 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: 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: 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: 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: 4607
Gene Symbol: MYBPC3
MYBPC3
myosin binding protein C3 0.593 0.385 8.0E-11
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.700 None 1.000 0 0 2007 2020
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: 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: 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: 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: 4633
Gene Symbol: MYL2
MYL2
myosin light chain 2 0.601 0.615 2.7E-08
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.440 None 1.000 0 0 2007 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: 27295
Gene Symbol: PDLIM3
PDLIM3
PDZ and LIM domain 3 0.547 0.769 3.0E-07
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.300 None 0 0
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: 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: 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: 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: 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: 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