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: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
group 0.900 strong 1.000 1 0 1994 2019
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
group 0.700 strong 1.000 2 0 1998 2018
Entrez Id: 7112
Gene Symbol: TMPO
TMPO
thymopoietin 0.631 0.577 1.5E-07
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
group 0.610 limited 1.000 1 0 2005 2005
Entrez Id: 4878
Gene Symbol: NPPA
NPPA
natriuretic peptide A 0.505 0.769 5.5E-04
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
group 0.520 None 1.000 1 0 2002 2013
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
ATP binding cassette subfamily C member 9 0.552 0.692 9.4E-09
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
group 0.420 None 1.000 1 0 2004 2014
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
actin alpha 1, skeletal muscle 0.540 0.769 1.1E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
group 0.400 strong 1.000 2 0 2006 2013
Entrez Id: 347273
Gene Symbol: CAVIN4
CAVIN4
caveolae associated protein 4 0.890 0.038 5.1E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
group 0.310 None 1.000 1 0 2011 2019
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
plakophilin 2 0.606 0.538 3.1E-18
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
group 0.310 None 1.000 1 0 2016 2016
Entrez Id: 6443
Gene Symbol: SGCB
SGCB
sarcoglycan beta 0.656 0.346 9.6E-07
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
group 0.300 None 1.000 1 0 2013 2013