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: 8736
Gene Symbol: MYOM1
MYOM1 		myomesin 1 0.839 0.269 1.7E-40
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.300 limited 1.000 2 0 2011 2011
Entrez Id: 6262
Gene Symbol: RYR2
RYR2 		ryanodine receptor 2 0.539 0.615 1.00
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.340 limited 1.000 2 0 1998 2019
Entrez Id: 27295
Gene Symbol: PDLIM3
PDLIM3 		PDZ and LIM domain 3 0.547 0.769 3.0E-07
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.300 limited 1.000 2 0 1997 2010
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		potassium voltage-gated channel subfamily Q member 1 0.485 0.769 4.5E-08
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.520 1.000 1 0 2014 2016
Entrez Id: 125972
Gene Symbol: CALR3
CALR3 		calreticulin 3 0.839 0.154 7.0E-10
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.300 limited 1.000 1 0 2007 2007
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.310 1.000 0 0 2017 2017