Source: CLINVAR

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: 4607
Gene Symbol: MYBPC3
MYBPC3
myosin binding protein C, cardiac 0.621 0.310 8.3E-09
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.500 1.000 5 16 2006 2017
Entrez Id: 5350
Gene Symbol: PLN
PLN
phospholamban 0.627 0.379 0.47
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.500 definitive 0.941 3 1 1993 2018
Entrez Id: 1756
Gene Symbol: DMD
DMD
dystrophin 0.477 0.724 1.00
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.500 0.906 1 1 1993 2016
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
troponin T2, cardiac type 0.611 0.241 2.6E-03
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.490 0.875 13 2 2001 2017
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
troponin I3, cardiac type 0.600 0.586 8.7E-02
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.460 1.000 14 2 2003 2016
Entrez Id: 7276
Gene Symbol: TTR
TTR
transthyretin 0.471 0.897 0.55
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.200 1.000 20 1 1986 2018
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
myosin heavy chain 7 0.564 0.483 3.7E-16
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.200 1.000 19 7 2003 2017
Entrez Id: 1832
Gene Symbol: DSP
DSP
desmoplakin 0.532 0.690 1.00
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.200 1.000 13 9 2000 2016
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.406 0.724 1.00
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.200 0.957 0 1 2000 2018
Entrez Id: 51422
Gene Symbol: PRKAG2
PRKAG2
protein kinase AMP-activated non-catalytic subunit gamma 2 0.614 0.414 1.00
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.190 0.857 0 1 2003 2017
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
lysosomal associated membrane protein 2 0.604 0.517 0.30
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.180 1.000 0 1 2000 2018
Entrez Id: 2010
Gene Symbol: EMD
EMD
emerin 0.614 0.552 0.93
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.160 1.000 0 1 1998 2009
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1
actin, alpha, cardiac muscle 1 0.656 0.414 0.78
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.150 1.000 1 1 1999 2016
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
plakophilin 2 0.681 0.241 5.2E-18
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.150 1.000 1 1 2006 2018
Entrez Id: 1829
Gene Symbol: DSG2
DSG2
desmoglein 2 0.645 0.448 3.8E-10
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.120 1.000 0 1 2006 2016
Entrez Id: 57538
Gene Symbol: ALPK3
ALPK3
alpha kinase 3 0.834 0.276 4.2E-24
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.110 1.000 1 1 2016 2017
Entrez Id: 79188
Gene Symbol: TMEM43
TMEM43
transmembrane protein 43 0.690 0.276 1.3E-12
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.110 1.000 0 1 2013 2013
Entrez Id: 387119
Gene Symbol: CEP85L
CEP85L
centrosomal protein 85 like 0.752 0.241 4.9E-09
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.100 3 1 2006 2014
Entrez Id: 88
Gene Symbol: ACTN2
ACTN2
actinin alpha 2 0.743 0.207 1.00
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.100 2 1 2010 2013
Entrez Id: 54344
Gene Symbol: DPM3
DPM3
dolichyl-phosphate mannosyltransferase subunit 3 0.815 0.241 0.23
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.100 1 1 2015 2015
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP
mitochondrial intermediate peptidase 0.762 0.207 5.2E-15
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.100 1 1 2017 2017
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
sodium voltage-gated channel beta subunit 1 0.598 0.276 0.12
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.100 1 1 2017 2017
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
ATP binding cassette subfamily C member 9 0.590 0.517 1.6E-08
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.100 0 1
Entrez Id: 85366
Gene Symbol: MYLK2
MYLK2
myosin light chain kinase 2 0.785 0.103 0.24
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.100 0 1