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: 3784
Gene Symbol: KCNQ1
KCNQ1 		potassium voltage-gated channel subfamily Q member 1 0.485 0.769 4.5E-08
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		disease 0.700 None 0.980 152 102 1993 2020
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1 		potassium voltage-gated channel subfamily E regulatory subunit 1 0.588 0.615 3.4E-03
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		disease 0.700 None 0.983 17 4 1997 2018
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		disease 0.700 strong 0.987 3 4 1995 2020
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		potassium voltage-gated channel subfamily H member 2 0.522 0.731 1.00
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		disease 0.500 None 0.990 120 114 1995 2020
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C 		calcium voltage-gated channel subunit alpha1 C 0.510 0.846 1.00
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		disease 0.200 None 0.962 17 4 2004 2019
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		caveolin 3 0.564 0.692 5.5E-03
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		disease 0.190 None 0.964 19 6 2000 2019
Entrez Id: 287
Gene Symbol: ANK2
ANK2 		ankyrin 2 0.626 0.538 1.00
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		disease 0.170 None 1.000 0 3 2005 2019
Entrez Id: 6640
Gene Symbol: SNTA1
SNTA1 		syntrophin alpha 1 0.678 0.308 5.6E-03
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		disease 0.160 None 1.000 0 1 2008 2019
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		myosin binding protein C3 0.593 0.385 8.0E-11
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		disease 0.120 None 1.000 0 1 2007 2014
Entrez Id: 10984
Gene Symbol: KCNQ1OT1
KCNQ1OT1 		KCNQ1 opposite strand/antisense transcript 1 0.534 0.731
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		disease 0.110 None 1.000 6 3 1997 2018
Entrez Id: 10142
Gene Symbol: AKAP9
AKAP9 		A-kinase anchoring protein 9 0.638 0.385 4.5E-17
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		disease 0.110 None 1.000 0 3 2014 2014
Entrez Id: 51066
Gene Symbol: SSUH2
SSUH2 		ssu-2 homolog 0.821 0.231 4.0E-10
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		disease 0.100 None 1.000 14 6 2000 2011
Entrez Id: 338653
Gene Symbol: KCNQ1-AS1
KCNQ1-AS1 		KCNQ1 antisense RNA 1 0.861 0.115
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		disease 0.100 None 1.000 6 3 1999 2014
Entrez Id: 6518
Gene Symbol: SLC2A5
SLC2A5 		solute carrier family 2 member 5 0.647 0.500 3.6E-10
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		disease 0.100 None 0 1
Entrez Id: 253017
Gene Symbol: TECRL
TECRL 		trans-2,3-enoyl-CoA reductase like 0.805 0.192 3.2E-12
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		disease 0.100 None 0 1
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		disease 0.100 None 0 1