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: C4021133
Disease: Left ventricular noncompaction cardiomyopathy
Left ventricular noncompaction cardiomyopathy 		disease 0.180 None 1.000 2 5 2009 2018
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C4021133
Disease: Left ventricular noncompaction cardiomyopathy
Left ventricular noncompaction cardiomyopathy 		disease 0.120 None 1.000 0 1 2008 2017
Entrez Id: 7273
Gene Symbol: TTN
TTN 		titin 0.470 0.885 2.6E-96
CUI: C4021133
Disease: Left ventricular noncompaction cardiomyopathy
Left ventricular noncompaction cardiomyopathy 		disease 0.110 None 1.000 0 5 2019 2019
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP 		mitochondrial intermediate peptidase 0.666 0.615 1.6E-15
CUI: C4021133
Disease: Left ventricular noncompaction cardiomyopathy
Left ventricular noncompaction cardiomyopathy 		disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1 		TTN antisense RNA 1 0.599 0.577
CUI: C4021133
Disease: Left ventricular noncompaction cardiomyopathy
Left ventricular noncompaction cardiomyopathy 		disease 0.100 None 0 5
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C4021133
Disease: Left ventricular noncompaction cardiomyopathy
Left ventricular noncompaction cardiomyopathy 		disease 0.100 None 0 1
Entrez Id: 6262
Gene Symbol: RYR2
RYR2 		ryanodine receptor 2 0.539 0.615 1.00
CUI: C4021133
Disease: Left ventricular noncompaction cardiomyopathy
Left ventricular noncompaction cardiomyopathy 		disease 0.100 None 0 1