Source: CLINGEN

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 14 0 1988 2019
Entrez Id: 4624
Gene Symbol: MYH6
MYH6 		myosin heavy chain 6 0.581 0.615 1.6E-32
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.660 limited 1.000 5 0 1984 2019
Entrez Id: 845
Gene Symbol: CASQ2
CASQ2 		calsequestrin 2 0.691 0.385 1.4E-12
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.500 0 0
Entrez Id: 783
Gene Symbol: CACNB2
CACNB2 		calcium voltage-gated channel auxiliary subunit beta 2 0.659 0.538 2.7E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.300 0 0
Entrez Id: 7125
Gene Symbol: TNNC2
TNNC2 		troponin C2, fast skeletal type 0.931 0.077 1.6E-02
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.300 0 0
Entrez Id: 7112
Gene Symbol: TMPO
TMPO 		thymopoietin 0.631 0.577 1.5E-07
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.300 0 0