Source: GENOMICS_ENGLAND

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: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
disease 0.700 strong 0.987 2 0 1995 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 1 0 1997 2018
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 0 0 1993 2020
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
ryanodine receptor 2 0.539 0.615 1.00
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
disease 0.400 None 1.000 1 0 2005 2018
Entrez Id: 6330
Gene Symbol: SCN4B
SCN4B
sodium voltage-gated channel beta subunit 4 0.705 0.346 6.5E-07
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
disease 0.320 limited 1.000 1 0 2007 2014
Entrez Id: 10008
Gene Symbol: KCNE3
KCNE3
potassium voltage-gated channel subfamily E regulatory subunit 3 0.666 0.423 0.47
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
disease 0.310 None 1.000 1 0 2009 2009