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: 4625
Gene Symbol: MYH7
MYH7 		myosin heavy chain 7 0.516 0.692 4.2E-16
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		disease 0.500 None 0.992 230 94 1985 2019
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		myosin binding protein C3 0.593 0.385 8.0E-11
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		disease 0.500 None 1.000 147 172 1989 2019
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3 		troponin I3, cardiac type 0.520 0.769 9.6E-02
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		disease 0.500 None 1.000 59 18 1997 2017
Entrez Id: 7168
Gene Symbol: TPM1
TPM1 		tropomyosin 1 0.560 0.615 1.0E-03
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		disease 0.500 None 1.000 38 7 1994 2017
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		troponin T2, cardiac type 0.601 0.423 2.0E-03
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		disease 0.500 None 1.000 6 7 1996 2006
Entrez Id: 4633
Gene Symbol: MYL2
MYL2 		myosin light chain 2 0.601 0.615 2.7E-08
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		disease 0.430 None 1.000 0 5 1997 2019
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2 		lysosomal associated membrane protein 2 0.552 0.731 0.27
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		disease 0.310 None 1.000 0 1 2018 2019
Entrez Id: 57158
Gene Symbol: JPH2
JPH2 		junctophilin 2 0.736 0.154 4.5E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		disease 0.300 None 1.000 0 1 2010 2010
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1 		actin alpha cardiac muscle 1 0.610 0.538 0.74
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		disease 0.130 None 1.000 0 2 1999 2018
Entrez Id: 51422
Gene Symbol: PRKAG2
PRKAG2 		protein kinase AMP-activated non-catalytic subunit gamma 2 0.582 0.654 1.00
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		disease 0.120 None 1.000 0 2 2001 2003
Entrez Id: 4634
Gene Symbol: MYL3
MYL3 		myosin light chain 3 0.695 0.308 8.8E-02
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		disease 0.110 None 1.000 5 5 2001 2017
Entrez Id: 5350
Gene Symbol: PLN
PLN 		phospholamban 0.595 0.577 0.45
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		disease 0.110 None 1.000 0 1 2003 2003
Entrez Id: 2318
Gene Symbol: FLNC
FLNC 		filamin C 0.568 0.615 1.00
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		disease 0.110 None 1.000 0 1 2014 2014
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		disease 0.100 None 1.000 3 2 2006 2014
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		disease 0.100 None 1.000 2 3 2007 2007
Entrez Id: 100529097
Gene Symbol: RPL36A-HNRNPH2
RPL36A-HNRNPH2 		RPL36A-HNRNPH2 readthrough 0.861 0.154 0.36
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		disease 0.100 None 0 2
Entrez Id: 4565
Gene Symbol: TRNI
TRNI 		tRNA 0.743 0.385
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		disease 0.100 None 0 2
Entrez Id: 4563
Gene Symbol: TRNG
TRNG 		tRNA 1.000 0.077
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		disease 0.100 None 0 1
Entrez Id: 387119
Gene Symbol: CEP85L
CEP85L 		centrosomal protein 85 like 0.656 0.423 4.5E-09
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		disease 0.100 None 0 1
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		potassium voltage-gated channel subfamily H member 2 0.522 0.731 1.00
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		disease 0.100 None 0 1
Entrez Id: 2717
Gene Symbol: GLA
GLA 		galactosidase alpha 0.537 0.769 1.00
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		disease 0.100 None 0 2
Entrez Id: 2273
Gene Symbol: FHL1
FHL1 		four and a half LIM domains 1 0.532 0.731 0.97
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		disease 0.100 None 0 1
Entrez Id: 1674
Gene Symbol: DES
DES 		desmin 0.460 0.846 8.8E-03
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		disease 0.100 None 0 1
Entrez Id: 8557
Gene Symbol: TCAP
TCAP 		titin-cap 0.682 0.538 0.19
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		disease 0.100 None 0 3