Source: ORPHANET

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 0.525 0.586 2.1E-07
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
disease 1.000 1.000 0 0 1993 2018
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
potassium voltage-gated channel subfamily H member 2 0.543 0.586 0.99
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
disease 0.460 1.000 0 0 2004 2017
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
sodium voltage-gated channel alpha subunit 5 0.527 0.552 0.88
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
disease 0.440 1.000 0 0 1999 2011
Entrez Id: 805
Gene Symbol: CALM2
CALM2
calmodulin 2 0.472 0.793 0.92
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
disease 0.400 0 0
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
potassium voltage-gated channel subfamily E regulatory subunit 1 0.642 0.310 3.7E-03
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
disease 0.360 1.000 0 0 1999 2009
Entrez Id: 9992
Gene Symbol: KCNE2
KCNE2
potassium voltage-gated channel subfamily E regulatory subunit 2 0.659 0.310 1.2E-04
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
disease 0.320 1.000 0 0 2005 2009
Entrez Id: 10142
Gene Symbol: AKAP9
AKAP9
A-kinase anchoring protein 9 0.681 0.379 3.1E-16
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
disease 0.300 0 0
Entrez Id: 9722
Gene Symbol: NOS1AP
NOS1AP
nitric oxide synthase 1 adaptor protein 0.652 0.345 0.62
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
disease 0.300 0 0
Entrez Id: 6640
Gene Symbol: SNTA1
SNTA1
syntrophin alpha 1 0.707 0.241 6.0E-03
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
disease 0.300 0 0
Entrez Id: 6330
Gene Symbol: SCN4B
SCN4B
sodium voltage-gated channel beta subunit 4 0.752 0.172 6.1E-07
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
disease 0.300 0 0
Entrez Id: 287
Gene Symbol: ANK2
ANK2
ankyrin 2 0.663 0.345 1.00
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
disease 0.300 0 0
Entrez Id: 3762
Gene Symbol: KCNJ5
KCNJ5
potassium voltage-gated channel subfamily J member 5 0.579 0.517 4.6E-04
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
disease 0.300 0 0
Entrez Id: 859
Gene Symbol: CAV3
CAV3
caveolin 3 0.592 0.414 5.9E-03
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
disease 0.300 0 0
Entrez Id: 801
Gene Symbol: CALM1
CALM1
calmodulin 1 0.469 0.793 0.95
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
disease 0.300 0 0
Entrez Id: 10345
Gene Symbol: TRDN
TRDN
triadin 0.713 0.414 7.5E-18
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
disease 0.300 0 0