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: 7137
Gene Symbol: TNNI3
TNNI3 		troponin I3, cardiac type 0.520 0.769 9.6E-02
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.700 definitive 0.991 76 19 1988 2019
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		troponin T2, cardiac type 0.601 0.423 2.0E-03
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.800 definitive 0.982 86 19 1991 2018
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		myosin binding protein C3 0.593 0.385 8.0E-11
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.700 strong 0.990 191 230 1986 2020
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		myosin heavy chain 7 0.516 0.692 4.2E-16
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.800 definitive 0.988 272 129 1990 2019