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: 287
Gene Symbol: ANK2
ANK2
ankyrin 2 0.626 0.538 1.00
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
disease 0.300 None 1.000 3 0 2003 2009
Entrez Id: 9722
Gene Symbol: NOS1AP
NOS1AP
nitric oxide synthase 1 adaptor protein 0.608 0.423 0.61
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
disease 0.300 None 1.000 2 0 2009 2010
Entrez Id: 805
Gene Symbol: CALM2
CALM2
calmodulin 2 0.472 0.808 0.92
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
disease 0.400 None 1.000 2 0 2013 2014
Entrez Id: 801
Gene Symbol: CALM1
CALM1
calmodulin 1 0.472 0.808 0.94
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
disease 0.300 None 1.000 2 0 2013 2014
Entrez Id: 10142
Gene Symbol: AKAP9
AKAP9
A-kinase anchoring protein 9 0.638 0.385 4.5E-17
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
disease 0.300 None 1.000 1 0 2013 2013
Entrez Id: 859
Gene Symbol: CAV3
CAV3
caveolin 3 0.564 0.692 5.5E-03
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
disease 0.300 None 1.000 1 0 2013 2013
Entrez Id: 6640
Gene Symbol: SNTA1
SNTA1
syntrophin alpha 1 0.678 0.308 5.6E-03
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
disease 0.300 None 1.000 1 0 2013 2013
Entrez Id: 6336
Gene Symbol: SCN10A
SCN10A
sodium voltage-gated channel alpha subunit 10 0.566 0.692 9.9E-38
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
disease 0.300 None 1.000 1 0 2018 2018
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
disease 0.410 None 1.000 1 0 1999 2013
Entrez Id: 6330
Gene Symbol: SCN4B
SCN4B
sodium voltage-gated channel beta subunit 4 0.705 0.346 6.5E-07
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
disease 0.300 None 1.000 1 0 2013 2013
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
potassium voltage-gated channel subfamily Q member 1 0.485 0.769 4.5E-08
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
disease 0.500 None 1.000 1 0 1997 2017
Entrez Id: 3762
Gene Symbol: KCNJ5
KCNJ5
potassium inwardly rectifying channel subfamily J member 5 0.560 0.577 3.4E-04
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
disease 0.300 None 1.000 1 0 2013 2013
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
potassium voltage-gated channel subfamily H member 2 0.522 0.731 1.00
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
disease 0.320 None 1.000 1 0 2007 2017
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
potassium voltage-gated channel subfamily E regulatory subunit 1 0.588 0.615 3.4E-03
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
disease 0.350 None 1.000 1 0 1998 2019
Entrez Id: 10345
Gene Symbol: TRDN
TRDN
triadin 0.691 0.462 8.4E-22
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
disease 0.300 None 1.000 1 0 2016 2016
Entrez Id: 9992
Gene Symbol: KCNE2
KCNE2
potassium voltage-gated channel subfamily E regulatory subunit 2 0.628 0.423 1.0E-04
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
disease 0.310 None 1.000 1 0 2008 2013