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: 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 1 3 2012 2012
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 2 1999 2015
Entrez Id: 57538
Gene Symbol: ALPK3
ALPK3
alpha kinase 3 0.792 0.462 8.4E-25
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.140 None 1.000 1 1 2012 2019
Entrez Id: 361
Gene Symbol: AQP4
AQP4
aquaporin 4 0.456 0.885 2.3E-03
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.100 None 0 1
Entrez Id: 147429
Gene Symbol: AQP4-AS1
AQP4-AS1
AQP4 antisense RNA 1 0.751 0.577
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.100 None 0 1
Entrez Id: 55210
Gene Symbol: ATAD3A
ATAD3A
ATPase family AAA domain containing 3A 0.628 0.692 4.1E-09
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.100 None 1.000 1 1 2016 2016
Entrez Id: 387119
Gene Symbol: CEP85L
CEP85L
centrosomal protein 85 like 0.656 0.423 4.5E-09
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.100 None 1.000 3 3 2006 2013
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 2 2003 2019
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 3 2011 2019
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 1 1993 2020
Entrez Id: 54344
Gene Symbol: DPM3
DPM3
dolichyl-phosphate mannosyltransferase subunit 3, regulatory 0.839 0.308 0.23
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.110 None 1.000 0 1 2017 2017
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 2 2013 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 1 2006 2019
Entrez Id: 100652770
Gene Symbol: DSG2-AS1
DSG2-AS1
DSG2 antisense RNA 1 0.890 0.077
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.100 None 0 1
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 2 13 2002 2019
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 1 1998 2019
Entrez Id: 2318
Gene Symbol: FLNC
FLNC
filamin C 0.568 0.615 1.00
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.200 None 1.000 0 1 2016 2020
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 3 2010 2018
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
lysosomal associated membrane protein 2 0.552 0.731 0.27
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.500 None 1.000 0 1 2000 2019
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.384 0.885 1.00
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.200 None 0.957 4 6 2000 2020
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP
mitochondrial intermediate peptidase 0.666 0.615 1.6E-15
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.100 None 1.000 1 1 2016 2016
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 40 2007 2020
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 0 14 2001 2019
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 2 2007 2019
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
myosin light chain 3 0.695 0.308 8.8E-02
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.410 None 1.000 0 1 2018 2018