Long QT Syndrome Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles). (Human Disease Ontology, DOID_2843)
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Genes

51 genes associated with the Long QT Syndrome phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ACE angiotensin I converting enzyme
ADRA2C adrenoceptor alpha 2C
ADRB1 adrenoceptor beta 1
ADRB2 adrenoceptor beta 2, surface
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
AKAP10 A kinase (PRKA) anchor protein 10
AKAP9 A kinase (PRKA) anchor protein 9
ANK2 ankyrin 2, neuronal
ATP1B1 ATPase, Na+/K+ transporting, beta 1 polypeptide
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit
CAV3 caveolin 3
CERKL ceramide kinase-like
CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2
CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6
CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9
CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6
CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4
KCND2 potassium channel, voltage gated Shal related subfamily D, member 2
KCND3 potassium channel, voltage gated Shal related subfamily D, member 3
KCNE1 potassium channel, voltage gated subfamily E regulatory beta subunit 1
KCNE2 potassium channel, voltage gated subfamily E regulatory beta subunit 2
KCNE3 potassium channel, voltage gated subfamily E regulatory beta subunit 3
KCNE5 potassium channel, voltage gated subfamily E regulatory beta subunit 5
KCNH1 potassium channel, voltage gated eag related subfamily H, member 1
KCNH2 potassium channel, voltage gated eag related subfamily H, member 2
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KCNJ5 potassium channel, inwardly rectifying subfamily J, member 5
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
LOXL2 lysyl oxidase-like 2
MINK1 misshapen-like kinase 1
MMP9 matrix metallopeptidase 9
ND1
NOS1AP nitric oxide synthase 1 (neuronal) adaptor protein
NUBPL nucleotide binding protein-like
PLN phospholamban
RNF207 ring finger protein 207
RYR2 ryanodine receptor 2 (cardiac)
SCN1B sodium channel, voltage gated, type I beta subunit
SCN2B sodium channel, voltage gated, type II beta subunit
SCN3B sodium channel, voltage gated, type III beta subunit
SCN4B sodium channel, voltage gated, type IV beta subunit
SCN5A sodium channel, voltage gated, type V alpha subunit
SDHAF3 succinate dehydrogenase complex assembly factor 3
SLC22A23 solute carrier family 22, member 23
SLCO3A1 solute carrier organic anion transporter family, member 3A1
SLN sarcolipin
SNTA1 syntrophin, alpha 1
STK11 serine/threonine kinase 11
TIMP2 TIMP metallopeptidase inhibitor 2