Source: BEFREE

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: 6331
Gene Symbol: SCN5A
SCN5A 		sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		disease 1.000 None 1.000 31 15 1995 2018
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		potassium voltage-gated channel subfamily H member 2 0.522 0.731 1.00
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		disease 0.100 None 1.000 10 0 2001 2019
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		potassium voltage-gated channel subfamily Q member 1 0.485 0.769 4.5E-08
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		disease 0.040 None 1.000 4 0 2002 2019
Entrez Id: 5460
Gene Symbol: POU5F1
POU5F1 		POU class 5 homeobox 1 0.441 0.846 0.95
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 642559
Gene Symbol: POU5F1P3
POU5F1P3 		POU class 5 homeobox 1 pseudogene 3 0.452 0.808
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 645682
Gene Symbol: POU5F1P4
POU5F1P4 		POU class 5 homeobox 1 pseudogene 4 0.452 0.808
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 79727
Gene Symbol: LIN28A
LIN28A 		lin-28 homolog A 0.523 0.731 1.9E-02
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		disease 0.010 None 1.000 1 0 2013 2013