Long Qt Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

LQT MCID: LNG028 MIFTS: 63	Long Qt Syndrome (LQT) Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Muscle diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs Expand all tables

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Aliases & Classifications for Long Qt Syndrome

MalaCards integrated aliases for Long Qt Syndrome:

Name: Long Qt Syndrome ¹¹ ²⁴ ¹⁹ ⁷⁵ ²⁸ ⁵³ ⁵ ⁴³ ¹⁴ ³⁶ ⁶³ ⁷¹ ³³

Romano-Ward Syndrome ¹¹ ⁷¹

Congenital Long Qt Syndrome ³³

Familial Long Qt Syndrome ³³

Long Q-T Syndrome ¹¹

Qt Syndrome, Long ³⁸

Lqt ¹¹

Characteristics:

GeneReviews:

²⁴

Penetrance Lqts exhibits reduced penetrance of the ekg changes and symptoms. overall, approximately 25% of individuals with a pathogenic variant have a normal qtc (defined as <440 msec) on baseline ekg. the percentage of genetically affected individuals with a normal qtc was higher in the lqts type 1 group (36%) than in the lqts type 2 group (19%) or type 3 group (10%) [priori et al 2003, goldenberg et al 2011]....

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Cardiovascular diseases Ear diseases Muscle diseases Blood diseases

See all MalaCards categories (disease lists)

ICD11: ³³

Diseases of the circulatory system

Cardiac arrhythmia

Cardiac arrhythmia associated with genetic disorder

Long QT syndrome

External Ids:

Disease Ontology ¹¹ DOID:2843

ICD9CM ³⁴ 426.82

MeSH ⁴³ D008133

NCIt ⁴⁹ C34786

SNOMED-CT ⁶⁸ 9651007

ICD11 ³³ 1208831985

UMLS ⁷¹ C0023976 C0035828

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Summaries for Long Qt Syndrome

PubMed Health : ⁶³ Long qt syndrome: Long QT syndrome (LQTS) is a disorder of the heart's electrical activity. It can cause sudden, uncontrollable, dangerous arrhythmias (ah-RITH-me-ahs) in response to exercise or stress. Arrhythmias are problems with the rate or rhythm of the heartbeat. People who have LQTS also can have arrhythmias for no known reason. However, not everyone who has LQTS has dangerous heart rhythms. When they do occur, though, they can be fatal.

MalaCards based summary: Long Qt Syndrome, also known as romano-ward syndrome, is related to long qt syndrome 2 and long qt syndrome 1, and has symptoms including syncope An important gene associated with Long Qt Syndrome is KCNH2 (Potassium Voltage-Gated Channel Subfamily H Member 2), and among its related pathways/superpathways are Cardiac conduction and Myometrial relaxation and contraction pathways. The drugs Cathine and Methadone have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and lung, and related phenotypes are muscle and growth/size/body region

Disease Ontology: ¹¹ 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).

Wikipedia: ⁷⁵ Long QT syndrome (LQTS) is a condition affecting repolarization (relaxing) of the heart after a... more...

GeneReviews: NBK1129

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Related Diseases for Long Qt Syndrome

Diseases in the Long Qt Syndrome family:

Long Qt Syndrome 1	Long Qt Syndrome 3
Long Qt Syndrome 9	Long Qt Syndrome 10
Long Qt Syndrome 11	Long Qt Syndrome 12
Long Qt Syndrome 13	Long Qt Syndrome 2
Long Qt Syndrome 6	Long Qt Syndrome 5
Long Qt Syndrome 14	Long Qt Syndrome 15
Long Qt Syndrome 8	Long Qt Syndrome 16
Familial Long Qt Syndrome

Diseases related to Long Qt Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 382)

#	Related Disease	Score	Top Affiliating Genes
1	long qt syndrome 2	34.2	TRDN SNTA1 SCN5A RYR2 MYBPC3 KCNQ1
2	long qt syndrome 1	34.1	TRDN SNTA1 SCN5A RYR2 OXTR MYBPC3
3	long qt syndrome 3	34.1	TRDN SNTA1 SCN5A RYR2 KCNQ1 KCNJ5
4	long qt syndrome 5	34.0	SNTA1 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2
5	cardiac arrhythmia, ankyrin-b-related	33.9	TRDN SNTA1 SCN5A RYR2 KCNQ1 KCNJ5
6	long qt syndrome 6	33.9	SNTA1 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2
7	andersen cardiodysrhythmic periodic paralysis	33.9	TRDN SNTA1 SCN5A RYR2 KCNQ1 KCNJ5
8	timothy syndrome	33.9	TRDN SNTA1 SCN5A RYR2 KCNQ1 KCNJ2
9	long qt syndrome 9	33.9	TRDN SNTA1 SCN5A RYR2 OXTR KCNQ1
10	long qt syndrome 11	33.9	SNTA1 KCNQ1 KCNJ5 KCNJ2 KCNE2 KCNE1
11	long qt syndrome 13	33.8	SNTA1 SCN5A KCNQ1 KCNJ5 KCNJ2 KCNH2
12	long qt syndrome 12	33.8	SNTA1 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2
13	long qt syndrome 10	33.8	SNTA1 SCN5A KCNJ5 KCNJ2 KCNE2 KCNE1
14	long qt syndrome 14	33.7	TRDN SNTA1 SCN5A KCNQ1 KCNJ2 KCNH2
15	long qt syndrome 15	33.6	TRDN SNTA1 KCNJ2 KCNH2 AKAP9
16	jervell and lange-nielsen syndrome 1	33.6	TRDN SNTA1 SCN5A RYR2 KCNQ1OT1 KCNQ1-AS1
17	familial long qt syndrome	33.6	SCN5A KCNQ1OT1 KCNQ1-AS1 KCNQ1 KCNH2 KCNE1
18	syncope	32.7	SCN5A RYR2 KCNQ1 KCNH2
19	cardiac conduction defect	32.6	SCN5A RYR2 MYBPC3 KCNQ1 CACNA1C
20	ventricular tachycardia, catecholaminergic polymorphic, 3	32.5	TRDN RYR2 KCNJ2 ANK2
21	ventricular fibrillation, paroxysmal familial, 1	32.5	SCN5A RYR2 KCNQ1 KCNJ5 KCNH2 KCNE2
22	brugada syndrome	32.4	TRDN SNTA1 SCN5A RYR2 RNF207 MYBPC3
23	cardiac arrest	32.4	TRDN SCN5A RYR2 KCNQ1 KCNH2
24	atrioventricular block	32.3	SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 KCNE2
25	catecholaminergic polymorphic ventricular tachycardia	32.1	TRDN SNTA1 SCN5A RYR2 MYBPC3 KCNQ1
26	hypokalemia	32.0	KCNQ1 KCNJ5 KCNH2
27	hypertrophic cardiomyopathy	31.9	TRDN SNTA1 SCN5A RYR2 MYBPC3 KCNQ1
28	sudden infant death syndrome	31.8	SNTA1 SCN5A RYR2 MYBPC3 KCNQ1 KCNH2
29	brugada syndrome 1	31.8	SCN5A RYR2 KCNH2
30	dilated cardiomyopathy	31.8	TRDN SNTA1 SCN5A RYR2 MYBPC3 KCNQ1
31	short qt syndrome	31.7	SCN5A RYR2 KCNQ1 KCNJ5 KCNJ2 KCNH2
32	cardiomyopathy, familial hypertrophic, 1	31.7	SCN5A RYR2 OXTR MYBPC3 KCNQ1 KCNH2
33	atrial fibrillation	31.7	SNTA1 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2
34	third-degree atrioventricular block	31.7	SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 KCNE2
35	left ventricular noncompaction	31.6	TRDN SNTA1 SCN5A RYR2 MYBPC3 KCNQ1
36	sick sinus syndrome	31.6	SCN5A RYR2 KCNE1 CACNA1C
37	heart disease	31.5	TRDN SCN5A RYR2 MYBPC3 KCNQ1 KCNJ5
38	arrhythmogenic right ventricular cardiomyopathy	31.5	SCN5A RYR2 MYBPC3 KCNQ1 KCNH2 CACNA1C
39	lipoprotein quantitative trait locus	31.5	SCN5A RYR2 MYBPC3 KCNQ1 KCNJ5 KCNJ2
40	progressive familial heart block, type ia	31.4	SCN5A ANK2
41	familial atrial fibrillation	31.4	SNTA1 SCN5A RYR2 MYBPC3 KCNQ1 KCNJ5
42	progressive familial heart block	31.3	SCN5A KCNQ1
43	ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	31.2	TRDN RYR2 CACNA1C ANK2
44	right bundle branch block	31.2	SCN5A RYR2 KCNH2 CACNA1C
45	second-degree atrioventricular block	31.1	SCN5A KCNH2
46	familial short qt syndrome	31.1	KCNQ1 KCNJ2 KCNH2
47	congestive heart failure	31.1	SCN5A MYBPC3 KCNQ1 KCNJ2 KCNE2
48	left bundle branch hemiblock	30.8	SCN5A RYR2 MYBPC3
49	brugada syndrome 4	30.7	SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C
50	malignant hyperthermia	30.7	TRDN SCN5A RYR2 CAV3 CACNA1C

Graphical network of the top 20 diseases related to Long Qt Syndrome:

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Symptoms & Phenotypes for Long Qt Syndrome

UMLS symptoms related to Long Qt Syndrome:

syncope

MGI Mouse Phenotypes related to Long Qt Syndrome:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	muscle	MP:0005369	9.97	ANK2 CACNA1C CAV3 KCNE1 KCNH2 KCNJ2
2	growth/size/body region	MP:0005378	9.86	AKAP9 ANK2 CACNA1C CAV3 KCNE1 KCNE2
3	cardiovascular system	MP:0005385	9.36	ANK2 CACNA1C CAV3 KCNE1 KCNH2 KCNJ2

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Drugs & Therapeutics for Long Qt Syndrome

PubMed Health treatment related to Long Qt Syndrome: ⁶³

The goal of treating long QT syndrome (LQTS) is to prevent life-threatening, abnormal heart rhythms and fainting spells. Treatment isn't a cure for the disorder and may not restore a normal QT interval on an EKG (electrocardiogram ). However, treatment greatly improves the chances of survival.

Drugs for Long Qt Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 155)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Cathine

Approved, Experimental, Illicit, Vet_approved, Withdrawn

Phase 4

14838-15-4, 492-39-7

131954576 4786 26934

Methadone

Approved

Phase 4

76-99-3, 1095-90-5

4095

Guaifenesin

Approved, Investigational, Vet_approved

Phase 4

93-14-1

3516

Hydromorphone

Approved, Illicit

Phase 4

466-99-9, 71-68-1

5284570

Ibutilide

Approved

Phase 4

122647-32-9, 122647-31-8

60753

Progesterone

Approved, Vet_approved

Phase 4

57-83-0

5994

Methyltestosterone

Approved

Phase 4

58-18-4

6010

Testosterone undecanoate

Approved, Investigational

Phase 4

5949-44-0

21873174 65157

Testosterone enanthate

Approved

Phase 4

315-37-7

9416

Testosterone

Approved, Investigational

Phase 4

58-22-0

5408 6013

Prednisone

Approved, Vet_approved

Phase 4

53-03-2

5865

Respiratory System Agents

Phase 4

Antitussive Agents

Phase 4

Analgesics, Opioid

Phase 4

Analgesics

Phase 4

Chlorpheniramine, phenylpropanolamine drug combination

Phase 4

Narcotics

Phase 4

Hormones

Phase 4

Hormone Antagonists

Phase 4

Anti-Arrhythmia Agents

Phase 4

Progestins

Phase 4

Androgens

Phase 4

Testosterone 17 beta-cypionate

Phase 4

Antineoplastic Agents, Hormonal

Phase 4

glucocorticoids

Phase 4

Anti-Inflammatory Agents

Phase 4

Ranolazine

Approved, Investigational

Phase 2

142387-99-3, 95635-55-5

56959

Ivacaftor

Approved

Phase 2

873054-44-5

16220172

Diuretics, Potassium Sparing

Phase 2

Sodium Channel Blockers

Phase 2

Moxifloxacin

Approved, Investigational

Phase 1

186826-86-8, 354812-41-2, 151096-09-2

152946

Verapamil

Approved

Phase 1

152-11-4, 52-53-9

2520

Lopinavir

Approved

Phase 1

192725-17-0

92727

Ritonavir

Approved, Investigational

Phase 1

155213-67-5

392622

Diltiazem

Approved, Investigational

Phase 1

42399-41-7

39186

Chloroquine

Approved, Investigational, Vet_approved

Phase 1

54-05-7

2719

Lidocaine

Approved, Vet_approved

Phase 1

137-58-6

3676

Mexiletine

Approved, Investigational

Phase 1

5370-01-4, 31828-71-4

4178

Anti-Bacterial Agents

Phase 1

Anti-Infective Agents

Phase 1

Antiprotozoal Agents

Phase 1

Antiparasitic Agents

Phase 1

Antimalarials

Phase 1

Norgestimate, ethinyl estradiol drug combination

Phase 1

Cytochrome P-450 Enzyme Inhibitors

Phase 1

Cytochrome P-450 CYP3A Inhibitors

Phase 1

Anesthetics

Phase 1

Vasodilator Agents

Phase 1

Amebicides

Phase 1

Antirheumatic Agents

Phase 1

Interventional clinical trials:

(show top 50) (show all 74)

#	Name	Status	NCT ID	Phase	Drugs
1	Effect of Methadone and Hydromorphone on the QT Interval After Anesthesia and Surgery	Unknown status	NCT03893734	Phase 4	methadone;Hydromorphone
2	Influence of Testosterone Administration on Drug-Induced QT Interval Prolongation and Torsades de Pointes	Completed	NCT02513940	Phase 4	Testosterone;Progesterone;Placebo;Ibutilide
3	Novel Approaches for Minimizing Drug-Induced QT Interval Lengthening: Reducing the Risk of Drug-Induced QT Interval Lengthening in Women	Recruiting	NCT03834883	Phase 4	Progesterone;Ibutilide
4	Novel Approaches for Minimizing Drug-Induced QT Interval Lengthening	Recruiting	NCT04675788	Phase 4	Progesterone;Ibutilide;Testosterone;Placebo
5	Novel Form of Acquired Long QT Syndrome	Recruiting	NCT04169100	Phase 4	Prednisone
6	A Phase 3, Single-Blind Study to Evaluate the Effect of Eleclazine (GS-6615) on Shortening of the QT Interval, Safety, and Tolerability in Subjects With Long QT Syndrome Type 3	Terminated	NCT02300558	Phase 3	Eleclazine;Eleclazine placebo
7	ECG Device for Long QT Syndrome Screening in Newborns	Unknown status	NCT02412709	Phase 2
8	Long Term Prophylactic Therapy of Congenital Long QT Syndrome Type III (LQT3) With Ranolazine	Unknown status	NCT01728025	Phase 2	Ranolazine
9	Influence of Progesterone Administration on Drug-Induced QT Interval Prolongation and Torsades de Pointes	Completed	NCT01929083	Phase 2	Progesterone;Placebo;Ibutilide
10	Efficacy of Ranolazine in LQT3 Patients	Completed	NCT01648205	Phase 2	Placebo;Ranolazine
11	Mutation-specific Therapy for the Long QT Syndrome	Recruiting	NCT04581408	Phase 2	Lumacaftor / Ivacaftor, Orkambi® Oral Tablet
12	A Double-center, Randomized, Double-blinded, 2-way Crossover, Placebo-controlled Study: Comparison of Single Oral Dose 400mg Moxifloxacin-induced QT Prolongation Between Healthy Chinese Volunteers and Caucasian Volunteers	Unknown status	NCT02119091	Phase 1	Moxifloxacin
13	An Open-label Study to Evaluate the Effect of Single Dose GS-6615 on QT, Safety and Tolerability in Subjects With Long QT-3 Syndrome	Completed	NCT01849003	Phase 1	GS-6615
14	Comprehensive in Vitro Proarrhythmia Assay (CiPA) Clinical Phase 1 ECG Biomarker Validation Study (CiPA Phase 1 ECG Biomarker Study)	Completed	NCT03070470	Phase 1	Ranolazine;Verapamil;Lopinavir / Ritonavir;Chloroquine;Placebo;Dofetilide and Diltiazem
15	Five Period Crossover Study of the Ability of Late Sodium or Calcium Current Block (Mexiletine, Lidocaine, or Diltiazem) to Balance the Electrocardiographic Effects of hERG Potassium Current Block (Dofetilide or Moxifloxacin)	Completed	NCT02308748	Phase 1	Dofetilide;Mexiletine;Lidocaine;Moxifloxacin;Diltiazem;Placebo
16	A Phase 1, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Effect of Oral GS-6615 on Dofetilide-Induced QT Prolongation, Safety, and Tolerability in Healthy Subjects	Completed	NCT02365532	Phase 1	GS-6615;Placebo to match GS-6615;Placebo to match dofetilide;Dofetilide
17	A Phase 1 Open-Label, Parallel-Group, Adaptive, Single Dose Study to Evaluate the Pharmacokinetics of GS-6615 in Subjects With Normal and Impaired Renal Function	Completed	NCT02441829	Phase 1	Eleclazine
18	A Double-blind, Placebo-controlled Study to Evaluate the Effect of GS-6615 on QT, Safety and Tolerability in Subjects With Long QT2 Syndrome	Completed	NCT02365506	Phase 1	Eleclazine;Placebo
19	A Randomized, Double-Blind, Placebo and Moxifloxacin (Open-Label) Controlled, 4-Period, Crossover Study of the Effects of Multiple Oral Doses of ERB-041 on Cardiac Repolarization in Healthy Subjects	Completed	NCT00316459	Phase 1	ERB-041
20	A Phase 1, Open-Label, Parallel-Group, Adaptive, Single Dose Study to Evaluate the Pharmacokinetics of GS-6615 in Subjects With Normal and Impaired Hepatic Function	Completed	NCT02412098	Phase 1	Eleclazine
21	Metabolism of Patients With Genetically Caused Cardiac Arrhythmia	Unknown status	NCT02775513
22	Electromechanical Profiling of Arrhythmogenic Substrates and Triggers in the Long-QT Syndrome	Unknown status	NCT04074122
23	Hydroxyzine and Risk of Prolongation of QT Interval	Unknown status	NCT02814981
24	Exploring the Effect of Methylphenidate and Antidepressants on Cardiac Repolarisation.	Unknown status	NCT03642405
25	Molecular Genetic Screening and Identification of Congenital Arrhythmogenic Diseases	Unknown status	NCT00221832
26	QT-Prolongation in Lung Transplantation	Unknown status	NCT02380365
27	Prevelance of Fragmented QRS Complex and Prolonged QT Interval in Cirrhotic Patients and Its Correlation With the Severity of the Disease	Unknown status	NCT03158701
28	Comparison Between Epinephrine and Exercise Test in QT Long Syndrome Patients With KCNQ1 or KCNH2 Mutation Without Long QT Interval in Rest ECG	Unknown status	NCT01745666
29	Exploring Mechanisms and Morphology of QT Interval Prolongation - An Inheritable as Well as an Inducible Phenomenon	Completed	NCT03291145		Beta Blockers;Spironolactone
30	Multicenter Evaluation of Children and Young Adults With Genotype Positive Long QT Syndrome	Completed	NCT01705925
31	Long QT & Hearing Loss Prospective Study Registry	Completed	NCT02082431
32	Risk of QT-prolongation and Torsade de Pointes in Patients Treated With Acute Medication in a University Hospital	Completed	NCT02068170		Haloperidol, azi/clari/erythromycin, levo/moxifloxacin, co-trimoxazole, vori/keto/flu/itraconazole, methadone, tacrolimus, sunitinib
33	Fetal and Neonatal Magnetophysiology	Completed	NCT01903564
34	The Physiological Effects of hERG Blockade on Metabolism	Completed	NCT03868657		Moxifloxacin;Placebo
35	Physical Activity in Children With Inherited Cardiac Diseases : a Qualitative	Completed	NCT04650009
36	Abnormal QT-Response to the Sudden Tachycardia Provoked by Standing in Individuals With Drug-induced Long QT Syndrome	Completed	NCT02581241
37	Obstructive Sleep Apnea and Cardiac Electrophysiologic Biomarkers of Sudden Cardiac Death	Completed	NCT03678311
38	Azitromycin Use in COVID-19 Positive Pediatric Patients; Effect on Ventricle Repolarization	Completed	NCT04699097		Azithromycin
39	The Effect of Pink Grapefruit Juice on the QT Interval in Healthy Volunteers and Patients With Congenital Long QT Syndrome	Completed	NCT02680080		Moxifloxacin
40	QT-prolongation in Psychiatric Hospitals	Completed	NCT02043925		drugs linked with QT-prolongation
41	Drug Interactions With Risk of QT-prolongation in a General Hospital: an Epidemiological Point Prevalence Study	Completed	NCT02043912		Haloperidol
42	Long Term Monitoring to Detect Risk of Sudden Death in Inherited Arrhythmia Patients	Completed	NCT04124237
43	Determining the Effects of Two Different Anesthesia Induction Techniques on QT Distance in Cardiac Surgery Patients With Two Different QT Measurement Techniques	Completed	NCT04706104
44	The Long QT Syndrome in Pregnancy	Completed	NCT00488254
45	Further Research on Human Feasibility of a Subcutaneous Implantable Defibrillator (S-ICD)- ECG Signal Collections From Various Patient Groups Whilst Attending Outpatient Follow-up	Completed	NCT00399412
46	Modulation of QT Interval by Rapid Atrial Pacing in Patients With Dual Chamber Pacemakers	Completed	NCT00883610
47	National Long QT Syndrome Registry: Canadian Genetic Heart Rhythm Network \|Research Data Registry and Bio Bank	Completed	NCT02425189
48	Epidemiology of Long QTand Asian Sudden Death in Sleep	Completed	NCT00005367
49	Safety of Local Dental Anesthesia in Patients With Cardiac Channelopathies	Completed	NCT03182777
50	Prevalence of Congenital Long QT Syndrome and Acquired QT Prolongation in a Hospital Cohort	Completed	NCT03544918

Search NIH Clinical Center for Long Qt Syndrome

Cochrane evidence based reviews: long qt syndrome

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Genetic Tests for Long Qt Syndrome

Genetic tests related to Long Qt Syndrome:

#	Genetic test	Affiliating Genes
1	Long Qt Syndrome ²⁸	KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A TRDN

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Anatomical Context for Long Qt Syndrome

Organs/tissues related to Long Qt Syndrome:

MalaCards : Heart, Brain, Lung, Cardiac Myocytes, Skeletal Muscle, Spinal Cord, Whole Blood

Sources

Publications for Long Qt Syndrome

Articles related to Long Qt Syndrome:

(show top 50) (show all 5708)

#	Title	Authors	PMID	Year
1	Exome Analyses of Long QT Syndrome Reveal Candidate Pathogenic Mutations in Calmodulin-Interacting Genes. ⁶² ²⁴ ⁵	Shigemizu D...Tanaka T	26132555	2015
2	Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. ⁶² ²⁴ ⁵	Lieve KV...Chung WK	23631430	2013
3	Risk for life-threatening cardiac events in patients with genotype-confirmed long-QT syndrome and normal-range corrected QT intervals. ⁶² ²⁴ ⁵	Goldenberg I...Zhang L	21185501	2011
4	Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study. ⁶² ²⁴ ⁵	Itoh H...Horie M	20541041	2010
5	Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. ⁶² ²⁴ ⁵	Kapplinger JD...Ackerman MJ	19716085	2009
6	Epinephrine QT stress testing in the evaluation of congenital long-QT syndrome: diagnostic accuracy of the paradoxical QT response. ⁶² ²⁴ ⁵	Vyas H...Ackerman MJ	16534005	2006
7	Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. ⁶² ²⁴ ⁵	Tester DJ...Ackerman MJ	15840476	2005
8	Compound mutations: a common cause of severe long-QT syndrome. ⁶² ²⁴ ⁵	Westenskow P...Sanguinetti MC	15051636	2004
9	The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome. ⁶² ²⁴ ⁵	Van Langen IM...Wilde AA	12566525	2003
10	Novel mechanisms of trafficking defect caused by KCNQ1 mutations found in long QT syndrome. ⁵³ ⁶² ⁵	Sato A...Kimura A	19825999	2009
11	Trafficking-deficient long QT syndrome mutation KCNQ1-T587M confers severe clinical phenotype by impairment of KCNH2 membrane localization: evidence for clinically significant IKr-IKs alpha-subunit interaction. ⁵³ ⁶² ⁵	Biliczki P...Ehrlich JR	19959132	2009
12	Arrhythmia in heart and brain: KCNQ1 mutations link epilepsy and sudden unexplained death. ⁵³ ⁶² ⁵	Goldman AM...Noebels JL	20368164	2009
13	Hydroxyzine, a first generation H(1)-receptor antagonist, inhibits human ether-a-go-go-related gene (HERG) current and causes syncope in a patient with the HERG mutation. ⁵³ ⁶² ⁵	Sakaguchi T...Horie M	19057127	2008
14	SCN5A channelopathies--an update on mutations and mechanisms. ⁵³ ⁶² ⁵	Zimmer T...Surber R	19027780	2008
15	Clinical and electrophysiological features of Japanese pediatric long QT syndrome patients with KCNQ1 mutations. ⁵³ ⁶² ⁵	Yasuda K...Yamaguchi S	19261104	2008
16	Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations. ⁵³ ⁶² ⁵	Zhang X...Wang QK	18808722	2008
17	Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome. ⁵³ ⁶² ⁵	Eddy CA...Shelling AN	18774102	2008
18	The G604S-hERG mutation alters the biophysical properties and exerts a dominant-negative effect on expression of hERG channels in HEK293 cells. ⁵³ ⁶² ⁵	Huo J...Ma A	18386051	2008
19	Identification of a novel KCNQ1 mutation associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long QT syndrome in a Chinese family. ⁵³ ⁶² ⁵	Zhang S...Wang QK	18400097	2008
20	Neural control of heart rate is an arrhythmia risk modifier in long QT syndrome. ⁵³ ⁶² ⁵	Schwartz PJ...Brink PA	18308161	2008
21	Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers. ⁵³ ⁶² ⁵	Berge KE...Leren TP	18752142	2008
22	[Functional expression of congenital long QT syndrome related HERG mutation A561V in vitro]. ⁵³ ⁶² ⁵	Li Y...Huang C	17445409	2007
23	Skipping of Exon 1 in the KCNQ1 gene causes Jervell and Lange-Nielsen syndrome. ⁵³ ⁶² ⁵	Zehelein J...Koenen M	16987820	2006
24	[DNA-based diagnostics of long QT syndrome]. ⁵³ ⁶² ⁵	Berge KE...Leren TP	16244680	2005
25	Abnormal KCNQ1 trafficking influences disease pathogenesis in hereditary long QT syndromes (LQT1). ⁵³ ⁶² ⁵	Wilson AJ...Tinker A	15935335	2005
26	Impaired KCNQ1-KCNE1 and phosphatidylinositol-4,5-bisphosphate interaction underlies the long QT syndrome. ⁵³ ⁶² ⁵	Park KH...Loussouarn G	15746441	2005
27	Compound heterozygosity for mutations Asp611-->Tyr in KCNQ1 and Asp609-->Gly in KCNH2 associated with severe long QT syndrome. ⁵³ ⁶² ⁵	Yamaguchi M...Higashida H	15500450	2005
28	Defective assembly and trafficking of mutant HERG channels with C-terminal truncations in long QT syndrome. ⁵³ ⁶² ⁵	Gong Q...Zhou Z	15572053	2004
29	Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations. ⁵³ ⁶² ⁵	Lupoglazoff JM...Guicheney P	14998624	2004
30	Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients. ⁵³ ⁶² ⁵	Paulussen AD...Aerssens J	14760488	2004
31	A patient with LQTS in whom verapamil administration and permanent pacemaker implantation were useful for preventing torsade de pointes. ⁵³ ⁶² ⁵	Komiya N...Yano K	14720170	2004
32	Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome. ⁵³ ⁶² ⁵	Zareba W...International LQTS Registry, University of Rochester, Rochester, New York	14678125	2003
33	Q-T peak dispersion in congenital long QT syndrome: possible marker of mutation of HERG. ⁵³ ⁶² ⁵	Inoue M...Mabuchi H	12808265	2003
34	Requirement of subunit expression for cAMP-mediated regulation of a heart potassium channel. ⁵³ ⁶² ⁵	Kurokawa J...Kass RS	12566567	2003
35	KCNQ1 gain-of-function mutation in familial atrial fibrillation. ⁵³ ⁶² ⁵	Chen YH...Huang W	12522251	2003
36	KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population. ⁵³ ⁶² ⁵	Liu W...Wang Q	12442276	2002
37	[Congenital long QT syndrome in newborns]. ⁵³ ⁶² ⁵	Emeriaud G...Rossignol AM	12205790	2002
38	The binding site for channel blockers that rescue misprocessed human long QT syndrome type 2 ether-a-gogo-related gene (HERG) mutations. ⁵³ ⁶² ⁵	Ficker E...Brown AM	11741928	2002
39	Characterization and subcellular localization of KCNQ1 with a heterozygous mutation in the C terminus. ⁵³ ⁶² ⁵	Yamashita F...Aizawa Y	11162126	2001
40	Bradycardia-induced long QT syndrome caused by a de novo missense mutation in the S2-S3 inner loop of HERG. ⁵³ ⁶² ⁵	Yoshida H...Sasayama S	11170080	2001
41	Homozygosity for a HERG potassium channel mutation causes a severe form of long QT syndrome: identification of an apparent founder mutation in the Finns. ⁵³ ⁶² ⁵	Piippo K...Kontula K	10841244	2000
42	Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid polymorphism with possible phenotypic effects. ⁵³ ⁶² ⁵	Laitinen P...Kontula K	10862094	2000
43	Novel KCNQ1 mutations associated with recessive and dominant congenital long QT syndromes: evidence for variable hearing phenotype associated with R518X. ⁵³ ⁶² ⁵	Wei J...George AL	10737999	2000
44	Sinus node function and ventricular repolarization during exercise stress test in long QT syndrome patients with KvLQT1 and HERG potassium channel defects. ⁵³ ⁶² ⁵	Swan H...Toivonen L	10483966	1999
45	Cellular dysfunction of LQT5-minK mutants: abnormalities of IKs, IKr and trafficking in long QT syndrome. ⁵³ ⁶² ⁵	Bianchi L...Brown AM	10400998	1999
46	Long QT syndrome-associated mutations in the Per-Arnt-Sim (PAS) domain of HERG potassium channels accelerate channel deactivation. ⁵³ ⁶² ⁵	Chen J...Sanguinetti MC	10187793	1999
47	Genomic organization and mutational analysis of KVLQT1, a gene responsible for familial long QT syndrome. ⁵³ ⁶² ⁵	Itoh T...Nakamura Y	9799083	1998
48	A novel mutation in KVLQT1 is the molecular basis of inherited long QT syndrome in a near-drowning patient's family. ⁵³ ⁶² ⁵	Ackerman MJ...Thibodeau SN	9702906	1998
49	Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1. ⁵³ ⁶² ⁵	Splawski I...Keating MT	9693036	1998
50	Novel donor splice site mutation in the KVLQT1 gene is associated with long QT syndrome. ⁵³ ⁶² ⁵	Kanters JK...Christiansen M	9654228	1998

Sources

Genes for Long Qt Syndrome

Genes related to Long Qt Syndrome (14 elite genes):

(show top 50) (show all 140)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	KCNH2	Potassium Voltage-Gated Channel Subfamily H Member 2	Protein Coding	590.83	Pathogenic ⁵ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)	7889573 8877771 8914737 (more) 9024139 9452080 9536098 9544837 9600240 9693036 9694858 9721698 9927399 10086971 10187793 10220144 10226095 10560244 10690305 10753933 10841244 10862094 10973849 10996323 11170080 11222472 11278781 11468227 11524404 11668638 11741928 11802537 11854117 12354768 12566525 12775586 12808265 12877697 14714110 14720170 14998624 15090700 15242738 15364333 15500450 15572050 15572053 15840476 15851119 16199547 16414944 16432067 16831322 17088455 17171344 17445409 17576681 17576861 17905336 18386051 18441445 18593567 18752142 18808722 19038855 19057127 19070294 19490267 19695459 19716085 19731233 19841298 19841300 19843919 19862833 19926013 19996378 20181576 20850565 20851114 20960620 20975234 21063070 21185501 21240260 21244686 21295269 21308345 21350584 21367833 21376840 21419236 21440677 21483829 21536673 21703926 21960720 22396785 22402334 22515331 22573844 22677073 22821100 22949429 23158531 23174487 23303164 23470493 23631430 24057343 24103226 24606995 24623279 25294783 25417810 25819988 26063740 26132555 26496715 26669661 26704558 27816319 27920829 28049825 28855170 29431731 30369311 32383558 231588531 10744792 25119684 26066609 18272172 11434015 11289718 8521555 15958262 16771953 17160940 10483966 8772706 14642687 12621127 14527360 18218237 12716119 14760488 17224687 17876385 18006462 15043509 9564764 8734164 8664531 7736582 19694797 19065538 19038263 17298291 15961404 14613852 12539958 10444234 10531299 9654228 9390998 17597962 17311278 16244363 16399053 14642002 11334834 10987356 12885765 12837749 12612061 20127560 19668779 16863470 18590565 16487223 16554806 17042915 16050269 15464027 14678125 11844290 11709283 9765245 8593709 19143746 19083750 18551196 9395171 20140874 19726880 19651618 18701618 18774102 18096051 8649354 19959132 19214780 18991593 17926340 16361248 15973763 15340016 18573480 18192214 16969682 16762771
2	SCN5A	Sodium Voltage-Gated Channel Alpha Subunit 5	Protein Coding	589.66	Pathogenic ⁵ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)	8620612 8917568 10961955 (more) 15051636 15840476 17698727 19716085 24667783 26803770 29791480 30369311 30758498 10973849 17081365 19027780 19841300 20102864 20129283 21185501 22331908 22840528 24573164 30059973 8521555 19083750 14654377 10200053 11289718 12181125 12574983 8734164 12673799 15161528 19214780 16771953 16039271 15123648 15028074 11333173 11307783 7889574 19744495 15306732 15023552 14736542 12747584 11150514 9506831 19669871 16712702 15851227 16623272 14619194 12407860 11405394 10508990 19302788 18442965 18033008 16980337 16022964 11710892 20339117 18060054 14720472 12209021 18752142 19121808 17597962 15910881 15851319 14642002 18708744 12814325 10627139 14985827 14760488 15485686 18065446
3	KCNE1	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 1	Protein Coding	588.08	Pathogenic ⁵ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)	9354783 9354802 9445165 (more) 10400998 10428953 10973849 11874988 12566567 16922724 17341399 19716085 19862833 21070882 24400172 24561134 24606995 30461122 30530868 31941373 32058015 9328483 11530100 19907016 11289718 14760488 16987820 9852064 19214780 9654228 9834138 17646758 19219384 14642002 17597962 18752142 9693036 11484762 14499862 14761891 16050264 16487223 11414731 11832382 14510661 16038262 16623272
4	KCNQ1	Potassium Voltage-Gated Channel Subfamily Q Member 1	Protein Coding	579.28	Pathogenic ⁵ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	1467812 8528244 8818942 (more) 8872472 9024139 9312006 9323054 9386136 9536098 9570196 9654228 9693036 9799083 9927399 10024302 10077519 10086971 10090886 10376919 10409658 10477533 10482963 10483966 10560595 10704188 10728423 10737999 10973849 11021476 11087258 11140949 11162126 11216980 11278406 11530100 11668638 12051962 12205790 12402336 12442276 12522251 12702160 12820704 12877697 14531214 14678125 14998624 15028050 15051636 15176425 15234419 15466642 15469540 15498462 15746441 15781747 15840476 15935335 16155735 16199547 16246960 16253915 16414944 16534005 16556865 16627448 16818214 16922724 16981927 16987820 17088455 17192539 17227916 17470695 17576681 17905336 17984373 18239739 18308161 18400097 18580685 18713323 18752142 18774102 19160088 19261104 19490272 19590188 19716085 19808498 19825999 19841298 19841300 19843919 19862833 19934648 19959132 20044973 20167303 20186784 20348026 20368164 20421371 20487114 20541041 20659946 20660394 20662986 20850564 21063070 21118729 21131640 21241800 21241880 21350584 21451124 21482651 21511995 21576493 21810471 21854832 21895724 22095730 22199116 22382802 22429796 22456477 22509038 22539601 22581653 22613981 22629021 22677073 22708720 22727609 22739119 22949429 22956155 23000022 23092362 23098067 23123674 23124029 23130128 23158531 23174487 23350853 23392653 23400408 23631430 23844633 24070608 24184248 24190995 24217263 24218437 24357532 24372464 24388587 24552659 24606995 24666684 24667783 24681627 24705789 24861447 24912595 24947509 25037568 25087618 25187895 25294783 25344363 25348405 25444851 25453094 25525159 25559286 25564553 25634836 25645639 25705178 25786344 25825456 25854863 25889101 26022593 26066609 26187847 26318259 26546361 26669661 26675252 27041150 27761162 27831900 27871843 27917693 27920829 28249770 28364778 28438721 28491751 28619993 28739325 28944242 29033053 29037160 29167462 29194874 29532034 30369311 30571187 30847666 31226583 31737537 32383558 32936022 34505893 9702906 16244680 19027783 19184172 26496715 27485560 29497013 32004091 17091796 11289718 12653681 11434015 18365896 16564513 10874277 9482580 14760488 15696484 18192214 9020846 9852064 17646758 12388934 11438691 10090529 9396783 19214780 16929947 11684219 11334835 16487223 14761891 14516346 11313306 12566567 16623272 15500450 14769199 14510661 11414731 11120752 9328483 9272155 9201970 17997361 16691402 12237170 11101505 7668277 19008479 18266681 9354802 17597962 17655673 17023080 15194462 16723781 15004216 14642002 9677360 20479111 18808722 9564764 17224687 16762771 15192825 14731347
5	CACNA1C	Calcium Voltage-Gated Channel Subunit Alpha1 C	Protein Coding	452.34	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)	23174487 23631430 23677916 (more) 24728418 26253506 29016939 30025578 30345660 31408100 32161207
6	CAV3	Caveolin 3	Protein Coding	451.51	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)	9536098 10746614 11001938 (more) 11431690 11756609 11805270 12666119 12807393 12839838 12939441 14633633 15099591 15318349 15580566 15668980 16730439 17537631 17576681 18487559 18583131 18930476 19380584 19697367 20229577 20472890 21294223 21404291 21660982 22581547 22976939 26185955 26947586 27184587 27772553 9537420 18509671 19238754 21182936 23861362 28232187 30153853
7	KCNJ5	Potassium Inwardly Rectifying Channel Subfamily J Member 5	Protein Coding	450.21	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
8	KCNQ1OT1	KCNQ1 Opposite Strand/Antisense Transcript 1	RNA Gene	438.47	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)	9323054 17905336 19862833 (more) 23631430 25525159 26318259 16199547
9	KCNQ1-AS1	KCNQ1 Antisense RNA 1	RNA Gene	428.15	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴	9323054 10024302 16414944 (more) 16981927 19716085 19825999 19862833 22739119 23098067 23631430 25187895 30847666
10	OXTR	Oxytocin Receptor	Protein Coding	425	Pathogenic ⁵ Likely pathogenic ⁵	11001938 11431690 12666119 (more) 12807393 15099591 15318349 15580566 15668980 18583131 18930476 19697367 20229577 20472890 21660982 22581547 22976939 26947586 27184587 27772553 9537420 17537631 18509671 19238754 21182936 23861362 28232187 30153853
11	MYBPC3	Myosin Binding Protein C3	Protein Coding	407.12	Pathogenic ⁵ DISEASES inferred ¹⁴
12	SSUH2	Ssu-2 Homolog	Protein Coding	400	Pathogenic ⁵	15318349 18930476 12807393 (more) 20472890 12939441 21404291 11805270 18583131 15580566 11431690 10746614 11756609 12839838 14633633 19380584
13	KCNE2	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 2	Protein Coding	140.7	Genetic Tests ²⁸ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	10219239 11289718 14760488 (more) 19214780 18603586 19219384 14642002 17597962 18752142 16050264 16487223 16623272
14	TRDN	Triadin	Protein Coding	115.41	Genetic Tests ²⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
15	ANK2	Ankyrin 2	Protein Coding	71.26	Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	15178757 16253912 18052691
16	SNTA1	Syntrophin Alpha 1	Protein Coding	61.33	Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
17	AKAP9	A-Kinase Anchoring Protein 9	Protein Coding	51	Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
18	RYR2	Ryanodine Receptor 2	Protein Coding	48.56	Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	16188589 16818210 19926015
19	RNF207	Ring Finger Protein 207	Protein Coding	39.78	Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
20	KCNJ2	Potassium Inwardly Rectifying Channel Subfamily J Member 2	Protein Coding	37.64	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	14642002 15276028 16623272
21	SCN4B	Sodium Voltage-Gated Channel Beta Subunit 4	Protein Coding	35.55	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
22	CALM2	Calmodulin 2	Protein Coding	34.8	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
23	TECRL	Trans-2,3-Enoyl-CoA Reductase Like	Protein Coding	31.35	Likely pathogenic ⁵ DISEASES inferred ¹⁴
24	DSP	Desmoplakin	Protein Coding	30.68	Likely pathogenic ⁵ DISEASES inferred ¹⁴	16467215
25	CALM1	Calmodulin 1	Protein Coding	25.97	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
26	CALM3	Calmodulin 3	Protein Coding	25.33	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
27	ALG10B	ALG10 Alpha-1,2-Glucosyltransferase B	Protein Coding	23.67	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Summaries (show sections)
28	KCND3	Potassium Voltage-Gated Channel Subfamily D Member 3	Protein Coding	23.26	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	15563876 10942109 18052691
29	KCND2	Potassium Voltage-Gated Channel Subfamily D Member 2	Protein Coding	22.09	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	15563876 10942109
30	NOS1AP	Nitric Oxide Synthase 1 Adaptor Protein	Protein Coding	17.12	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
31	KCNE3	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 3	Protein Coding	16.37	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
32	SCN1B	Sodium Voltage-Gated Channel Beta Subunit 1	Protein Coding	16.03	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
33	HCN4	Hyperpolarization Activated Cyclic Nucleotide Gated Potassium Channel 4	Protein Coding	15.68	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
34	KCNE5	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 5	Protein Coding	15.45	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
35	KCNA5	Potassium Voltage-Gated Channel Subfamily A Member 5	Protein Coding	15.34	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
36	KCNQ2	Potassium Voltage-Gated Channel Subfamily Q Member 2	Protein Coding	15.2	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
37	KCNH1	Potassium Voltage-Gated Channel Subfamily H Member 1	Protein Coding	15.1	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
38	ADRB1	Adrenoceptor Beta 1	Protein Coding	14.69	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
39	SCN8A	Sodium Voltage-Gated Channel Alpha Subunit 8	Protein Coding	14.55	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
40	KCNQ3	Potassium Voltage-Gated Channel Subfamily Q Member 3	Protein Coding	14.53	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
41	KCNJ3	Potassium Inwardly Rectifying Channel Subfamily J Member 3	Protein Coding	14.35	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
42	TRPM4	Transient Receptor Potential Cation Channel Subfamily M Member 4	Protein Coding	14.21	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
43	NEDD4L	NEDD4 Like E3 Ubiquitin Protein Ligase	Protein Coding	14.07	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
44	CACNA1D	Calcium Voltage-Gated Channel Subunit Alpha1 D	Protein Coding	14	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
45	TBX5	T-Box Transcription Factor 5	Protein Coding	13.98	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
46	FKBP1B	FKBP Prolyl Isomerase 1B	Protein Coding	13.78	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
47	ADRB2	Adrenoceptor Beta 2	Protein Coding	13.36	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
48	ABCC8	ATP Binding Cassette Subfamily C Member 8	Protein Coding	13.32	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
49	ATP2B4	ATPase Plasma Membrane Ca2+ Transporting 4	Protein Coding	13.3	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
50	SLN	Sarcolipin	Protein Coding	13.13	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)

Sources

Variations for Long Qt Syndrome

ClinVar genetic disease variations for Long Qt Syndrome:

⁵ (show top 50) (show all 7398)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	SLC2A5	NM_003039.3(SLC2A5):c.808C>T (p.Arg270Trp)	SNV	Association	207859	rs779760381	GRCh37: 1:9099936-9099936 GRCh38: 1:9039877-9039877
2	KCNE1	NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn)	SNV	Benign; Risk Factor	13479	rs1805128	GRCh37: 21:35821680-35821680 GRCh38: 21:34449382-34449382
3	KCNH2	NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp)	SNV	Likely Benign; Risk Factor	67509	rs36210422	GRCh37: 7:150655537-150655537 GRCh38: 7:150958449-150958449
4	CACNA1C	NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg)	SNV	Pathogenic	17632	rs79891110	GRCh37: 12:2614110-2614110 GRCh38: 12:2504944-2504944
5	KCNH2	NM_000238.4(KCNH2):c.1128G>A (p.Gln376_Val377=)	SNV	Pathogenic	200323	rs770047651	GRCh37: 7:150654379-150654379 GRCh38: 7:150957291-150957291
6	KCNH2	NM_000238.4(KCNH2):c.2587C>T (p.Arg863Ter)	SNV	Pathogenic	220208	rs773724817	GRCh37: 7:150645949-150645949 GRCh38: 7:150948861-150948861
7	KCNH2	NM_000238.4(KCNH2):c.2775dup (p.Pro926fs)	DUP	Pathogenic	200672	rs794728455	GRCh37: 7:150644883-150644884 GRCh38: 7:150947795-150947796
8	KCNH2	NM_000238.4(KCNH2):c.1810G>A (p.Gly604Ser)	SNV	Pathogenic	67281	rs199473522	GRCh37: 7:150648671-150648671 GRCh38: 7:150951583-150951583
9	KCNH2	NM_000238.4(KCNH2):c.3094del (p.Arg1032fs)	DEL	Pathogenic	219924	rs864622309	GRCh37: 7:150644474-150644474 GRCh38: 7:150947386-150947386
10	KCNQ1	NM_000218.3(KCNQ1):c.1022C>T (p.Ala341Val)	SNV	Pathogenic	3121	rs12720459	GRCh37: 11:2604765-2604765 GRCh38: 11:2583535-2583535
11	KCNQ1	NM_000218.3(KCNQ1):c.760G>A (p.Val254Met)	SNV	Pathogenic	3118	rs120074179	GRCh37: 11:2593319-2593319 GRCh38: 11:2572089-2572089
12	KCNQ1	NM_000218.3(KCNQ1):c.965C>T (p.Thr322Met)	SNV	Pathogenic	53151	rs199472755	GRCh37: 11:2604708-2604708 GRCh38: 11:2583478-2583478
13	KCNQ1	NM_000218.3(KCNQ1):c.585del (p.Lys196fs)	DEL	Pathogenic	53076	rs397508120	GRCh37: 11:2591964-2591964 GRCh38: 11:2570734-2570734
14	KCNQ1	NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser)	SNV	Pathogenic	53063	rs199473394	GRCh37: 11:2591915-2591915 GRCh38: 11:2570685-2570685
15	KCNQ1	NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr)	SNV	Pathogenic	53061	rs120074177	GRCh37: 11:2591912-2591912 GRCh38: 11:2570682-2570682
16	SCN5A	NM_000335.5(SCN5A):c.1231G>A (p.Val411Met)	SNV	Pathogenic	67651	rs72549410	GRCh37: 3:38647549-38647549 GRCh38: 3:38606058-38606058
17	KCNH2	NM_000238.4(KCNH2):c.1945+6T>C	SNV	Pathogenic	200400	rs794728380	GRCh37: 7:150648530-150648530 GRCh38: 7:150951442-150951442
18	KCNH2	NM_000238.4(KCNH2):c.3002G>A (p.Trp1001Ter)	SNV	Pathogenic	200513	rs794728401	GRCh37: 7:150644566-150644566 GRCh38: 7:150947478-150947478
19	KCNH2	NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val)	SNV	Pathogenic	14420	rs121912504	GRCh37: 7:150648799-150648799 GRCh38: 7:150951711-150951711
20	KCNH2	NM_000238.4(KCNH2):c.3105_3112dup (p.Val1038fs)	DUP	Pathogenic	200705	rs794728470	GRCh37: 7:150644455-150644456 GRCh38: 7:150947367-150947368
21	CACNA1C	NM_000719.7(CACNA1C):c.1552C>T (p.Arg518Cys)	SNV	Pathogenic	190642	rs786205748	GRCh37: 12:2675631-2675631 GRCh38: 12:2566465-2566465
22	KCNH2	NM_000238.4(KCNH2):c.735_754dup (p.Arg252fs)	DUP	Pathogenic	200612	rs794728425	GRCh37: 7:150655308-150655309 GRCh38: 7:150958220-150958221
23	KCNH2	NM_000238.4(KCNH2):c.1801G>A (p.Gly601Ser)	SNV	Pathogenic	67279	rs199472936	GRCh37: 7:150648680-150648680 GRCh38: 7:150951592-150951592
24	KCNQ1	NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs)	DEL	Pathogenic	53072	rs397508118	GRCh37: 11:2591950-2591954 GRCh38: 11:2570720-2570724
25	CAV3, OXTR	NM_033337.3(CAV3):c.277G>A (p.Ala93Thr)	SNV	Pathogenic	8285	rs28936686	GRCh37: 3:8787374-8787374 GRCh38: 3:8745688-8745688
26	KCNH2	NM_000238.4(KCNH2):c.2467C>T (p.Arg823Trp)	SNV	Pathogenic	67402	rs199473538	GRCh37: 7:150646069-150646069 GRCh38: 7:150948981-150948981
27	KCNQ1	NC_000011.9:g.(?_2604645)_(2604795_?)del	DEL	Pathogenic	1454680		GRCh37: 11:2604645-2604795 GRCh38:
28	KCNQ1	NM_000218.3(KCNQ1):c.1148dup (p.Ala384fs)	DUP	Pathogenic	1454915		GRCh37: 11:2608818-2608819 GRCh38: 11:2587588-2587589
29	KCNH2	NM_000238.4(KCNH2):c.2436T>A (p.Tyr812Ter)	SNV	Pathogenic	1455507		GRCh37: 7:150646100-150646100 GRCh38: 7:150949012-150949012
30	KCNQ1	NM_000218.3(KCNQ1):c.745_746dup (p.Leu250fs)	DUP	Pathogenic	1455898		GRCh37: 11:2593302-2593303 GRCh38: 11:2572072-2572073
31	KCNH2	NM_000238.4(KCNH2):c.195_210dup (p.Gly71fs)	DUP	Pathogenic	1456173		GRCh37: 7:150671895-150671896 GRCh38: 7:150974807-150974808
32	KCNQ1	NM_000218.3(KCNQ1):c.1210_1222del (p.Thr404fs)	DEL	Pathogenic	1445000		GRCh37: 11:2608878-2608890 GRCh38: 11:2587648-2587660
33	KCNH2	NM_000238.4(KCNH2):c.2118_2121dup (p.Thr708fs)	DUP	Pathogenic	1452601		GRCh37: 7:150648032-150648033 GRCh38: 7:150950944-150950945
34	KCNQ1	NM_000218.3(KCNQ1):c.913_916dup (p.Gly306fs)	DUP	Pathogenic	1451451		GRCh37: 11:2594205-2594206 GRCh38: 11:2572975-2572976
35	KCNH2	NM_000238.4(KCNH2):c.3086_3087dup (p.Pro1030fs)	DUP	Pathogenic	1452025		GRCh37: 7:150644480-150644481 GRCh38: 7:150947392-150947393
36	KCNQ1	NM_000218.3(KCNQ1):c.771_775dup (p.Arg259fs)	DUP	Pathogenic	1452627		GRCh37: 11:2593329-2593330 GRCh38: 11:2572099-2572100
37	KCNH2	NM_000238.4(KCNH2):c.809_821del (p.Thr270fs)	DEL	Pathogenic	1452777		GRCh37: 7:150655242-150655254 GRCh38: 7:150958154-150958166
38	KCNQ1	NM_000218.3(KCNQ1):c.778C>T (p.Gln260Ter)	SNV	Pathogenic	842276	rs1848346228	GRCh37: 11:2593337-2593337 GRCh38: 11:2572107-2572107
39	KCNH2	NM_000238.4(KCNH2):c.1298_1304del (p.Leu433fs)	DEL	Pathogenic	1457690		GRCh37: 7:150649766-150649772 GRCh38: 7:150952678-150952684
40	KCNQ1-AS1, KCNQ1	NM_000218.3(KCNQ1):c.1875dup (p.Gly626fs)	DUP	Pathogenic	1306529		GRCh37: 11:2869072-2869073 GRCh38: 11:2847842-2847843
41	KCNQ1 and overlap with 1 gene(s)	NC_000011.9:g.(?_2591848)_(2683321_?)del	DEL	Pathogenic	1459721		GRCh37: 11:2591848-2683321 GRCh38:
42	KCNH2	NM_000238.4(KCNH2):c.2684del (p.Thr895fs)	DEL	Pathogenic	1455493		GRCh37: 7:150645540-150645540 GRCh38: 7:150948452-150948452
43	KCNH2	NM_000238.4(KCNH2):c.3040C>T (p.Arg1014Ter)	SNV	Pathogenic	200518	rs794728403	GRCh37: 7:150644528-150644528 GRCh38: 7:150947440-150947440
44	KCNH2	NM_000238.4(KCNH2):c.464del (p.Leu155fs)	DEL	Pathogenic	1453664		GRCh37: 7:150656668-150656668 GRCh38: 7:150959580-150959580
45	KCNJ5	NM_000890.5(KCNJ5):c.452G>A (p.Gly151Glu)	SNV	Pathogenic	135679	rs587777437	GRCh37: 11:128781620-128781620 GRCh38: 11:128911725-128911725
46	KCNQ1	NM_000218.3(KCNQ1):c.1014CTT[1] (p.Phe340del)	MICROSAT	Pathogenic	52930	rs397508068	GRCh37: 11:2604757-2604759 GRCh38: 11:2583527-2583529
47	KCNQ1	NM_000218.3(KCNQ1):c.1022C>A (p.Ala341Glu)	SNV	Pathogenic	3120	rs12720459	GRCh37: 11:2604765-2604765 GRCh38: 11:2583535-2583535
48	KCNQ1	NM_000218.3(KCNQ1):c.1032G>A (p.Ala344_Gly345=)	SNV	Pathogenic	3135	rs1800171	GRCh37: 11:2604775-2604775 GRCh38: 11:2583545-2583545
49	KCNQ1	NM_000218.3(KCNQ1):c.1066C>T (p.Gln356Ter)	SNV	Pathogenic	52946	rs397508072	GRCh37: 11:2606475-2606475 GRCh38: 11:2585245-2585245
50	KCNQ1	NM_000218.3(KCNQ1):c.1075C>T (p.Gln359Ter)	SNV	Pathogenic	52950	rs397508075	GRCh37: 11:2606484-2606484 GRCh38: 11:2585254-2585254

Copy number variations for Long Qt Syndrome from CNVD:

⁶

#	CNVD ID	Chromosome	Start	End	Type	Gene Symbol	CNVD Disease
1	48309	11	1	10700000	Gain		Long-qt syndrome
2	221890	21	34740857	34806443	Genomic rearrangement	KCNE1	Long-qt syndrome
3	221892	21	34658192	34665310	Genomic rearrangement	KCNE2	Long-qt syndrome
4	221894	7	147500000	154700000	Genomic rearrangement	KCNH2	Long-qt syndrome
5	221896	11	2422796	2826916	Genomic rearrangement	KCNQ1	Long-qt syndrome
6	221898	3	38564556	38666167	Genomic rearrangement	SCN5A	Long-qt syndrome
7	221930	7	147900000	152600000	Loss		Long-qt syndrome

Sources

Expression for Long Qt Syndrome

Search GEO for disease gene expression data for Long Qt Syndrome.

Sources

Pathways for Long Qt Syndrome

Pathways related to Long Qt Syndrome according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Cardiac conduction ⁶⁶ Show member pathways Classical Kir channels ⁶⁶ Ion homeostasis ⁶⁶ Ion transport by P-type ATPases ⁶⁶ Muscle contraction ⁶⁶ Phase 1 - inactivation of fast Na+ channels ⁶⁶ Phase 2 - plateau phase ⁶⁶ Phase 3 - rapid repolarisation ⁶⁶ Phase 4 - resting membrane potential ⁶⁶ Physiological factors ⁶⁶ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁶ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁶ Tandem pore domain potassium channels ⁶⁶ TWIK related potassium channel (TREK) ⁶⁶ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁶ TWIK-related spinal cord K+ channel (TRESK) ⁶⁶ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁶	12.47	TRDN SCN5A RYR2 MYBPC3 KCNQ1 KCNJ2
2	Myometrial relaxation and contraction pathways ⁷⁴ Show member pathways Calcium regulation in cardiac cells ⁷⁴	12.19	RYR2 OXTR KCNJ5 CACNA1C
3	Dopamine-DARPP32 Feedback onto cAMP Pathway ⁶⁴	12.12	AKAP9 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2
4	Sudden infant death syndrome (SIDS) susceptibility pathways ⁷⁴	11.94	SNTA1 SCN5A RYR2 KCNQ1 KCNH2 CAV3
5	Potassium Channels ⁶⁶ Show member pathways Ca2+ activated K+ channels ⁶⁶ HCN channels ⁶⁶ Voltage gated Potassium channels ⁶⁶	11.87	KCNQ1 KCNJ5 KCNJ2 KCNH2
6	Antiarrhythmic Pathway, Pharmacodynamics ⁶⁰	11.06	SCN5A RYR2 KCNQ1 KCNJ5 KCNJ2 KCNH2
7	Genes targeted by miRNAs in adipocytes ⁷⁴	10.61	KCNQ1 KCNJ2 KCNE1

Sources

GO Terms for Long Qt Syndrome

Cellular components related to Long Qt Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	Z disc	GO:0030018	10.03	ANK2 CACNA1C CAV3 KCNE1 RYR2 SCN5A
2	postsynaptic membrane	GO:0045211	9.93	SNTA1 KCNJ2 CACNA1C ANK2
3	intercalated disc	GO:0014704	9.92	SCN5A KCNJ2 CAV3 ANK2
4	sarcolemma	GO:0042383	9.9	SNTA1 SCN5A RYR2 CAV3 CACNA1C ANK2
5	lateral plasma membrane	GO:0016328	9.83	SNTA1 SCN5A KCNQ1
6	junctional sarcoplasmic reticulum membrane	GO:0014701	9.67	TRDN RYR2
7	T-tubule	GO:0030315	9.61	SCN5A KCNJ2 CAV3 CACNA1C ANK2
8	potassium channel complex	GO:0034705	9.58	KCNQ1 AKAP9
9	voltage-gated potassium channel complex	GO:0008076	9.47	KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE2 KCNE1

Biological processes related to Long Qt Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 52)

#	Name	GO ID	Score	Top Affiliating Genes
1	potassium ion transmembrane transport	GO:0071805	10.32	KCNE1 KCNE2 KCNH2 KCNJ2 KCNJ5 KCNQ1
2	potassium ion import across plasma membrane	GO:1990573	10.24	KCNE2 KCNH2 KCNJ2 KCNJ5 KCNQ1
3	cardiac muscle contraction	GO:0060048	10.22	SCN5A RYR2 MYBPC3 KCNQ1 KCNH2
4	cellular response to xenobiotic stimulus	GO:0071466	10.18	KCNQ1 KCNH2 KCNE2
5	regulation of cardiac muscle contraction	GO:0055117	10.18	RYR2 RNF207 CAV3 ANK2
6	potassium ion export across plasma membrane	GO:0097623	10.17	KCNE1 KCNE2 KCNH2 KCNQ1
7	regulation of heart rate	GO:0002027	10.17	SNTA1 SCN5A RYR2 KCNQ1 CAV3 ANK2
8	cellular response to cAMP	GO:0071320	10.16	AKAP9 KCNE1 KCNQ1
9	positive regulation of potassium ion transmembrane transport	GO:1901381	10.16	KCNE1 KCNH2 KCNJ2 KCNQ1
10	cardiac muscle cell action potential involved in contraction	GO:0086002	10.16	SCN5A KCNJ2 KCNE2 KCNE1 CACNA1C
11	regulation of heart rate by cardiac conduction	GO:0086091	10.16	AKAP9 ANK2 CACNA1C KCNE1 KCNE2 KCNH2
12	potassium ion transport	GO:0006813	10.15	KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE2 KCNE1
13	monoatomic ion transport	GO:0006811	10.15	CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNJ5
14	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	GO:0010881	10.11	RYR2 CACNA1C ANK2
15	regulation of potassium ion transmembrane transport	GO:1901379	10.1	KCNH2 KCNE2 KCNE1
16	membrane depolarization during cardiac muscle cell action potential	GO:0086012	10.1	SCN5A KCNJ2 CACNA1C
17	membrane repolarization during ventricular cardiac muscle cell action potential	GO:0098915	10.1	KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
18	regulation of cardiac muscle cell contraction	GO:0086004	10.09	SCN5A KCNJ2 ANK2
19	atrial cardiac muscle cell action potential	GO:0086014	10.08	SCN5A KCNQ1 ANK2
20	positive regulation of potassium ion transmembrane transporter activity	GO:1901018	10.08	RNF207 ANK2 AKAP9
21	membrane repolarization during cardiac muscle cell action potential	GO:0086013	10.08	KCNQ1 KCNJ2 KCNH2 KCNE1
22	regulation of monoatomic ion transmembrane transport	GO:0034765	10.07	SCN5A KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE2
23	membrane repolarization	GO:0086009	10.05	KCNQ1 KCNH2 KCNE2 KCNE1
24	monoatomic ion transmembrane transport	GO:0034220	10.04	SCN5A KCNQ1 KCNJ5 KCNH2 CACNA1C
25	regulation of membrane repolarization	GO:0060306	10.02	KCNQ1 KCNJ2 KCNH2 KCNE2 AKAP9
26	regulation of ventricular cardiac muscle cell action potential	GO:0098911	10.01	RYR2 CACNA1C
27	cellular response to epinephrine stimulus	GO:0071872	10.01	RYR2 KCNQ1
28	cardiac muscle hypertrophy	GO:0003300	10.01	RYR2 CAV3
29	negative regulation of delayed rectifier potassium channel activity	GO:1902260	10.01	KCNE1 KCNE2 KCNQ1
30	negative regulation of potassium ion transmembrane transport	GO:1901380	10	KCNH2 CAV3
31	regulation of sodium ion transmembrane transport	GO:1902305	10	SCN5A SNTA1
32	T-tubule organization	GO:0033292	10	CAV3 ANK2
33	regulation of cardiac muscle cell action potential involved in regulation of contraction	GO:0098909	9.99	CAV3 AKAP9
34	release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	GO:0014808	9.99	TRDN RYR2
35	regulation of cardiac muscle contraction by calcium ion signaling	GO:0010882	9.99	RYR2 ANK2
36	regulation of delayed rectifier potassium channel activity	GO:1902259	9.98	KCNE2 KCNE1
37	regulation of SA node cell action potential	GO:0098907	9.98	RYR2 ANK2
38	regulation of ventricular cardiac muscle cell membrane depolarization	GO:0060373	9.98	SCN5A CAV3
39	regulation of atrial cardiac muscle cell membrane repolarization	GO:0060372	9.97	KCNQ1 SCN5A
40	membrane depolarization during AV node cell action potential	GO:0086045	9.97	SCN5A CACNA1C
41	membrane repolarization during atrial cardiac muscle cell action potential	GO:0098914	9.97	KCNQ1 KCNJ5
42	membrane depolarization during SA node cell action potential	GO:0086046	9.96	SCN5A ANK2
43	SA node cell action potential	GO:0086015	9.96	SCN5A ANK2
44	sarcoplasmic reticulum calcium ion transport	GO:0070296	9.96	RYR2 ANK2
45	membrane repolarization during action potential	GO:0086011	9.96	KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
46	membrane depolarization during atrial cardiac muscle cell action potential	GO:0098912	9.95	CACNA1C SCN5A
47	regulation of atrial cardiac muscle cell action potential	GO:0098910	9.95	RYR2 ANK2
48	regulation of calcium ion transmembrane transporter activity	GO:1901019	9.93	ANK2 CAV3
49	regulation of ventricular cardiac muscle cell membrane repolarization	GO:0060307	9.91	AKAP9 ANK2 CAV3 KCNE1 KCNE2 KCNH2
50	cardiac conduction	GO:0061337	9.88	CACNA1C KCNQ1

Molecular functions related to Long Qt Syndrome according to GeneCards Suite gene sharing:

(show all 15)

#	Name	GO ID	Score	Top Affiliating Genes
1	calmodulin binding	GO:0005516	10.21	SNTA1 SCN5A RYR2 KCNQ1 CACNA1C
2	scaffold protein binding	GO:0097110	10.02	SCN5A KCNQ1 KCNH2
3	voltage-gated potassium channel activity	GO:0005249	10.02	KCNQ1 KCNH2 KCNE2 KCNE1
4	potassium channel regulator activity	GO:0015459	10.01	KCNE2 KCNE1 AKAP9
5	protein kinase A regulatory subunit binding	GO:0034237	9.97	AKAP9 KCNQ1 RYR2
6	delayed rectifier potassium channel activity	GO:0005251	9.97	KCNE1 KCNE2 KCNH2 KCNQ1
7	inward rectifier potassium channel activity	GO:0005242	9.92	KCNJ5 KCNJ2 KCNH2 KCNE2
8	nitric-oxide synthase binding	GO:0050998	9.91	SNTA1 SCN5A CAV3
9	voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization	GO:0086008	9.86	KCNQ1 KCNJ2 KCNH2 KCNE1
10	voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	GO:1902282	9.85	KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
11	voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization	GO:0086089	9.83	KCNQ1 KCNJ5
12	monoatomic ion channel activity	GO:0005216	9.8	SCN5A RYR2 KCNQ1 KCNH2 CACNA1C
13	potassium channel activity	GO:0005267	9.76	KCNQ1 KCNH2 KCNE2 KCNE1
14	transmembrane transporter binding	GO:0044325	9.64	TRDN SNTA1 SCN5A RYR2 RNF207 KCNQ1
15	voltage-gated monoatomic ion channel activity	GO:0005244	9.61	CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNJ5