Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.500 GermlineCausalMutation disease ORPHANET Genotype- and phenotype-guided management of congenital long QT syndrome. 24093767 2013
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.410 GermlineCausalMutation disease ORPHANET Genotype- and phenotype-guided management of congenital long QT syndrome. 24093767 2013
Entrez Id: 805
Gene Symbol: CALM2
CALM2 		0.400 GermlineCausalMutation disease ORPHANET Novel calmodulin mutations associated with congenital arrhythmia susceptibility. 24917665 2014
Entrez Id: 805
Gene Symbol: CALM2
CALM2 		0.400 GermlineCausalMutation disease ORPHANET Calmodulin mutations associated with recurrent cardiac arrest in infants. 23388215 2013
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1 		0.350 GermlineCausalMutation disease ORPHANET Genotype- and phenotype-guided management of congenital long QT syndrome. 24093767 2013
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		0.320 GermlineCausalMutation disease ORPHANET Genotype- and phenotype-guided management of congenital long QT syndrome. 24093767 2013
Entrez Id: 9992
Gene Symbol: KCNE2
KCNE2 		0.310 GermlineCausalMutation disease ORPHANET Genotype- and phenotype-guided management of congenital long QT syndrome. 24093767 2013
Entrez Id: 6336
Gene Symbol: SCN10A
SCN10A 		0.300 GermlineCausalMutation disease 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 		0.300 GermlineCausalMutation disease 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 		0.300 GermlineCausalMutation disease 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 		0.300 GermlineCausalMutation disease ORPHANET Genotype- and phenotype-guided management of congenital long QT syndrome. 24093767 2013
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.300 GermlineCausalMutation disease ORPHANET Genotype- and phenotype-guided management of congenital long QT syndrome. 24093767 2013
Entrez Id: 6640
Gene Symbol: SNTA1
SNTA1 		0.300 GermlineCausalMutation disease ORPHANET Genotype- and phenotype-guided management of congenital long QT syndrome. 24093767 2013
Entrez Id: 10142
Gene Symbol: AKAP9
AKAP9 		0.300 GermlineCausalMutation disease ORPHANET Genotype- and phenotype-guided management of congenital long QT syndrome. 24093767 2013
Entrez Id: 6330
Gene Symbol: SCN4B
SCN4B 		0.300 GermlineCausalMutation disease ORPHANET Genotype- and phenotype-guided management of congenital long QT syndrome. 24093767 2013
Entrez Id: 801
Gene Symbol: CALM1
CALM1 		0.300 GermlineCausalMutation disease ORPHANET Calmodulin mutations associated with recurrent cardiac arrest in infants. 23388215 2013
Entrez Id: 9722
Gene Symbol: NOS1AP
NOS1AP 		0.300 GermlineModifyingMutation disease 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 		0.300 GermlineCausalMutation disease ORPHANET The genetic basis of long QT and short QT syndromes: a mutation update. 19862833 2009
Entrez Id: 9722
Gene Symbol: NOS1AP
NOS1AP 		0.300 GermlineModifyingMutation disease ORPHANET NOS1AP is a genetic modifier of the long-QT syndrome. 19822806 2009
Entrez Id: 287
Gene Symbol: ANK2
ANK2 		0.300 GermlineCausalMutation disease 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 		0.300 GermlineCausalMutation disease ORPHANET Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. 12571597 2003