Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
0.500 GermlineCausalMutation ORPHANET Genotype- and phenotype-guided management of congenital long QT syndrome. 24093767

2013

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
0.410 GermlineCausalMutation ORPHANET Genotype- and phenotype-guided management of congenital long QT syndrome. 24093767

2013

Entrez Id: 805
Gene Symbol: CALM2
CALM2
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
0.400 GermlineCausalMutation ORPHANET Novel calmodulin mutations associated with congenital arrhythmia susceptibility. 24917665

2014

Entrez Id: 805
Gene Symbol: CALM2
CALM2
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
0.400 GermlineCausalMutation ORPHANET Calmodulin mutations associated with recurrent cardiac arrest in infants. 23388215

2013

Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
0.350 GermlineCausalMutation ORPHANET Genotype- and phenotype-guided management of congenital long QT syndrome. 24093767

2013

Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
0.320 GermlineCausalMutation ORPHANET Genotype- and phenotype-guided management of congenital long QT syndrome. 24093767

2013

Entrez Id: 9992
Gene Symbol: KCNE2
KCNE2
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
0.310 GermlineCausalMutation ORPHANET Genotype- and phenotype-guided management of congenital long QT syndrome. 24093767

2013

Entrez Id: 6336
Gene Symbol: SCN10A
SCN10A
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
0.300 GermlineCausalMutation ORPHANET Deleterious protein-altering mutations in the SCN10A voltage-gated sodium channel gene are associated with prolonged QT. 28407228

2018

Entrez Id: 10345
Gene Symbol: TRDN
TRDN
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
0.300 GermlineCausalMutation ORPHANET KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1. 27041150

2016

Entrez Id: 801
Gene Symbol: CALM1
CALM1
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
0.300 GermlineCausalMutation ORPHANET A mutation in CALM1 encoding calmodulin in familial idiopathic ventricular fibrillation in childhood and adolescence. 24076290

2014

Entrez Id: 3762
Gene Symbol: KCNJ5
KCNJ5
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
0.300 GermlineCausalMutation ORPHANET Genotype- and phenotype-guided management of congenital long QT syndrome. 24093767

2013

Entrez Id: 859
Gene Symbol: CAV3
CAV3
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
0.300 GermlineCausalMutation ORPHANET Genotype- and phenotype-guided management of congenital long QT syndrome. 24093767

2013

Entrez Id: 6640
Gene Symbol: SNTA1
SNTA1
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
0.300 GermlineCausalMutation ORPHANET Genotype- and phenotype-guided management of congenital long QT syndrome. 24093767

2013

Entrez Id: 10142
Gene Symbol: AKAP9
AKAP9
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
0.300 GermlineCausalMutation ORPHANET Genotype- and phenotype-guided management of congenital long QT syndrome. 24093767

2013

Entrez Id: 6330
Gene Symbol: SCN4B
SCN4B
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
0.300 GermlineCausalMutation ORPHANET Genotype- and phenotype-guided management of congenital long QT syndrome. 24093767

2013

Entrez Id: 801
Gene Symbol: CALM1
CALM1
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
0.300 GermlineCausalMutation ORPHANET Calmodulin mutations associated with recurrent cardiac arrest in infants. 23388215

2013

Entrez Id: 9722
Gene Symbol: NOS1AP
NOS1AP
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
0.300 GermlineModifyingMutation ORPHANET Polymorphisms in the NOS1AP gene modulate QT interval duration and risk of arrhythmias in the long QT syndrome. 20538168

2010

Entrez Id: 287
Gene Symbol: ANK2
ANK2
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
0.300 GermlineCausalMutation ORPHANET The genetic basis of long QT and short QT syndromes: a mutation update. 19862833

2009

Entrez Id: 9722
Gene Symbol: NOS1AP
NOS1AP
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
0.300 GermlineModifyingMutation ORPHANET NOS1AP is a genetic modifier of the long-QT syndrome. 19822806

2009

Entrez Id: 287
Gene Symbol: ANK2
ANK2
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
0.300 GermlineCausalMutation ORPHANET "Defining the cellular phenotype of ""ankyrin-B syndrome"" variants: human ANK2 variants associated with clinical phenotypes display a spectrum of activities in cardiomyocytes." 17242276

2007

Entrez Id: 287
Gene Symbol: ANK2
ANK2
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
0.300 GermlineCausalMutation ORPHANET Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. 12571597

2003