LQT
MCID: LNG028
MIFTS: 64

Long Qt Syndrome (LQT) malady

Categories: Rare diseases, Genetic diseases, Cardiovascular diseases

Aliases & Classifications for Long Qt Syndrome

Aliases & Descriptions for Long Qt Syndrome:

Name: Long Qt Syndrome 12 23 50 24 52 42 14 38 69
Romano-Ward Syndrome 12 42 69
Long Q-T Syndrome 12 29
Long Qt Syndrome, Autosomal Dominant 24
Romano-Ward Long Qt Syndrome 24
Ward-Romano Syndrome 24
Romano Ward Syndrome 24
Lqt 12
Rws 24

Characteristics:

GeneReviews:

23
Penetrance Lqts exhibits reduced penetrance of the ecg changes and symptoms. overall, approximately 25% of individuals with a pathogenic variant have a normal qtc (defined as <440 msec) on baseline ecg. 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 the type 3 group (10%) [priori et al 2003, goldenberg et al 2011]...

Classifications:



External Ids:

Disease Ontology 12 DOID:2843
ICD10 33 I45.81
ICD9CM 35 426.82

Summaries for Long Qt Syndrome

NIH Rare Diseases : 50 long qt syndrome is a disorder of the heart’s electrical activity that can cause sudden, uncontrollable, and irregular heartbeats (arrhythmia), which may lead to sudden death. long qt syndrome can be detected by electrocardiogram (ekg). it can be caused by a variety of different gene mutations (changes). it can also be acquired (noninherited) and may be brought on by certain medicines and other medical conditions. last updated: 10/4/2013

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 Activation of cAMP-Dependent PKA and Developmental Biology. The drugs Guaifenesin and Methadone have been mentioned in the context of this disorder. Affiliated tissues include testes, heart and brain, and related phenotype is muscle.

Disease Ontology : 12 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).

GeneReviews: NBK1129

Related Diseases for Long Qt Syndrome

Diseases in the Long Qt Syndrome family:

Long Qt Syndrome 15 Long Qt Syndrome 9
Long Qt Syndrome-3 Long Qt Syndrome-11
Long Qt Syndrome 2 Long Qt Syndrome 1
Long Qt Syndrome-10 Long Qt Syndrome 13
Long Qt Syndrome 14 Long Qt Syndrome 12
Long Qt Syndrome 6 Long Qt Syndrome 5
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 133)
id Related Disease Score Top Affiliating Genes
1 long qt syndrome 2 12.6
2 long qt syndrome 1 12.5
3 long qt syndrome 5 12.5
4 long qt syndrome 13 12.5
5 long qt syndrome 9 12.5
6 long qt syndrome 6 12.4
7 long qt syndrome 12 12.4
8 long qt syndrome 15 12.4
9 long qt syndrome 14 12.4
10 familial long qt syndrome 12.2
11 scn5a-related romano ward syndrome 12.2
12 timothy syndrome 12.1
13 andersen syndrome 12.1
14 long qt syndrome-3 11.9
15 long qt syndrome-11 11.8
16 cardiac arrhythmia, ankyrin-b-related 11.8
17 long qt syndrome-10 11.8
18 jervell and lange-nielsen syndrome 11.8
19 ragweed sensitivity 11.1
20 andersen syndrome type 1 10.9
21 proximal renal tubular acidosis 10.3 KCNH2 KCNJ2 KCNQ1
22 cardiomyopathy 10.3
23 spastic paraplegia 29, autosomal dominant 10.3 KCNH2 KCNJ2 KCNQ1
24 brugada syndrome 10.2
25 subclavian steal syndrome 10.2 CALM1 CALM2 CALM3
26 leukemia, acute lymphoblastic 2 10.2 CALM1 CALM2 CALM3
27 short stature with microcephaly and distinctive facies 10.2 CALM1 CALM2 CALM3
28 neuropathy, hereditary sensory and autonomic, type ii 10.2 CALM1 CALM2 CALM3
29 dumping syndrome 10.2 CALM1 CALM2 CALM3
30 arthropathy 10.2 CALM1 CALM2 CALM3
31 chronic dacryoadenitis 10.2 CALM1 CALM2 CALM3
32 retinitis pigmentosa 20 10.2 CALM1 CALM2 CALM3
33 regular astigmatism 10.2 CALM1 CALM2 CALM3
34 aspiration pneumonia 10.2 CALM1 CALM2 CALM3
35 migraine with aura 9 10.2 KCNH2 KCNJ5 KCNQ1 SCN5A
36 lipodystrophy, familial partial, 2 10.2 CALM1 CALM2 CALM3
37 retinal cone dystrophy 4 10.2 CACNA1C KCNE1 KCNQ1
38 arrhythmogenic right ventricular dysplasia 2 10.2 CALM1 RYR2 SCN5A
39 congenital hypothyroidism 10.2 CALM1 CALM2 CALM3
40 third-degree atrioventricular block 10.2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
41 lipodystrophy, familial partial, type 5 10.1 CAV3 KCNJ2 SCN5A SNTA1
42 deafness, autosomal dominant 2a 10.1 CALM1 CALM2 CALM3 KCNQ1
43 t-cell large granular lymphocyte leukemia 10.1 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
44 microphthalmia with limb anomalies 10.1 ANK2 CALM1 CALM2 CALM3
45 distal arthrogryposis 10.1 CALM1 CALM2 CALM3
46 patel bixler syndrome 10.1 CACNA1C SCN5A
47 catecholaminergic polymorphic ventricular tachycardia 10.1
48 atrioventricular block 10.1
49 sudden infant death syndrome 10.1
50 partial of retinal vein occlusion 10.1 CALM1 CALM2 CALM3

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



Diseases related to Long Qt Syndrome

Symptoms & Phenotypes for Long Qt Syndrome

UMLS symptoms related to Long Qt Syndrome:


syncope

MGI Mouse Phenotypes related to Long Qt Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.23 CACNA1C CAV3 KCNH2 KCNJ2 KCNQ1 RYR2

Drugs & Therapeutics for Long Qt Syndrome

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

(show top 50) (show all 218)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Guaifenesin Approved, Vet_approved Phase 4,Phase 1 93-14-1 3516
2
Methadone Approved Phase 4,Phase 1 76-99-3 4095
3
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 50-28-2 5757 53477783
4
Ethinyl Estradiol Approved Phase 4,Phase 2,Phase 3,Phase 1 57-63-6 5991
5
Moxifloxacin Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 354812-41-2, 151096-09-2 152946
6
Norgestimate Approved Phase 4,Phase 2,Phase 3,Phase 1 35189-28-7 6540478
7
Aripiprazole Approved, Investigational Phase 4,Phase 2 129722-12-9 60795
8
Valproic Acid Approved, Investigational Phase 4 99-66-1 3121
9
Ibutilide Approved Phase 4,Phase 2 122647-32-9, 122647-31-8 60753
10
Progesterone Approved, Vet_approved Phase 4,Phase 2 57-83-0 5994
11
Methyltestosterone Approved Phase 4 58-18-4 6010
12
Testosterone Approved, Investigational Phase 4 58-22-0 6013
13
Rifampin Approved Phase 4 13292-46-1 5458213 5381226
14 Analgesics Phase 4,Phase 1
15 Analgesics, Opioid Phase 4,Phase 1
16 Antitussive Agents Phase 4,Phase 1
17 Central Nervous System Depressants Phase 4,Phase 2,Phase 1
18 Chlorpheniramine, phenylpropanolamine drug combination Phase 4,Phase 1
19 Narcotics Phase 4,Phase 1
20 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 1
21 Respiratory System Agents Phase 4,Phase 1
22 Anti-Bacterial Agents Phase 4,Phase 2,Phase 3,Phase 1
23 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
24 Contraceptive Agents Phase 4,Phase 2,Phase 3,Phase 1
25 Contraceptives, Oral Phase 4,Phase 2,Phase 3,Phase 1
26 Contraceptives, Oral, Combined Phase 4,Phase 2,Phase 3,Phase 1
27 Estradiol 17 beta-cypionate Phase 4,Phase 2,Phase 3,Phase 1
28 Estradiol 3-benzoate Phase 4,Phase 2,Phase 3,Phase 1
29 Estradiol valerate Phase 4,Phase 2,Phase 3,Phase 1 979-32-8
30 Fluoroquinolones Phase 4,Phase 2,Phase 3,Phase 1
31 Norgestimate, ethinyl estradiol drug combination Phase 4,Phase 2,Phase 3,Phase 1
32 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
33 Polyestradiol phosphate Phase 4,Phase 2,Phase 3,Phase 1
34 Topoisomerase Inhibitors Phase 4,Phase 2,Phase 3,Phase 1
35 Anesthetics Phase 4,Phase 1
36 Anticonvulsants Phase 4,Phase 1
37 Antidepressive Agents Phase 4
38 Antimanic Agents Phase 4
39 Antipsychotic Agents Phase 4,Phase 2,Phase 1
40 GABA Agents Phase 4
41 Lithium carbonate Phase 4 554-13-2
42 Neurotransmitter Agents Phase 4,Phase 2,Phase 1
43 Psychotropic Drugs Phase 4,Phase 2,Phase 1
44 Tranquilizing Agents Phase 4,Phase 2,Phase 1
45 Anti-Arrhythmia Agents Phase 4,Phase 2,Phase 1
46 Hormone Antagonists Phase 4,Phase 2
47 Hormones Phase 4,Phase 2
48 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2
49 Progestins Phase 4,Phase 2
50 Anabolic Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 90)
id Name Status NCT ID Phase
1 Adjunct Methadone to Decrease the Duration of Mechanical Ventilation in the Medical Intensive Care Unit Unknown status NCT02025855 Phase 4
2 Hemodynamic Responses to Tracheal Intubation Direct Laryngoscope and Videolaryngoscope in Elderly Patients Completed NCT02816775 Phase 4
3 A Study of Aripiprazole (Abilify) in Patients With Bipolar Mania Completed NCT00261443 Phase 4
4 Influence of Testosterone Administration on Drug-Induced QT Interval Prolongation and Torsades de Pointes Recruiting NCT02513940 Phase 4
5 Genetics of QT Response to Moxifloxacin Enrolling by invitation NCT01936480 Phase 4
6 Imaging of Brain Amyloid Plaques in the Aging Population Enrolling by invitation NCT00950430 Phase 4
7 Pediatric Lead Extractability and Survival Evaluation (PLEASE) Terminated NCT00335036 Phase 4
8 Pharmacokinetics and Safety of Moxifloxacin Terminated NCT01329250 Phase 4
9 Atazanavir (BMS-232632) in Combination With Ritonavir or Saquinavir, and Lopinavir/Ritonavir, Each With Tenofovir and a Nucleoside in Subjects With HIV Completed NCT00035932 Phase 3
10 Registry of Unexplained Cardiac Arrest Recruiting NCT00292032 Phase 3
11 Pragmatic Clinical Trial for a More Effective Concise and Less Toxic MDR-TB Treatment Regimen(s) Recruiting NCT02589782 Phase 2, Phase 3
12 Effect of Eleclazine on Shortening of the QT Interval, Safety, and Tolerability in Adults With Long QT Syndrome Type 3 Terminated NCT02300558 Phase 3
13 Influence of Progesterone Administration on Drug-Induced QT Interval Lengthening Completed NCT01929083 Phase 2
14 A Safety Study Comparing LY2140023 to Atypical Antipsychotic Standard Treatment in Schizophrenic Patients Completed NCT00845026 Phase 2
15 Long QT Syndrome Screening in Newborns Recruiting NCT02412709 Phase 2
16 Long Term Prophylactic Therapy of Congenital Long QT Syndrome Type III (LQT3) With Ranolazine Recruiting NCT01728025 Phase 2
17 Efficacy Study of Sodium Channel Blocker in LQT3 Patients Recruiting NCT01648205 Phase 2
18 Renal Nerve Stimulation and Renal Denervation in Patients With Sympathetic Ventricular Arrhythmias Recruiting NCT02856373 Phase 2
19 Treatment With Tamoxifen in Cryptococcal Meningitis Not yet recruiting NCT03112031 Phase 2
20 Comparison of Two Macrolides, Azithromycin and Erythromycin, for Symptomatic Treatment of Gastroparesis Terminated NCT01323582 Phase 2
21 Race Difference Moxifloxacin-induced QT Prolongation Between Healthy Chinese and Caucasian Volunteers Unknown status NCT02119091 Phase 1
22 Effect of Oral GS-6615 on Dofetilide-Induced QT Prolongation, Safety, and Tolerability in Healthy Adults Completed NCT02365532 Phase 1
23 Study of the Effect of GS-6615 in Subjects With LQT-3 Completed NCT01849003 Phase 1
24 Effect of Eleclazine on QT, Safety, and Tolerability in Adults With Long QT2 Syndrome Completed NCT02365506 Phase 1
25 Pharmacokinetics of Eleclazine in Adults With Normal and Impaired Hepatic Function Completed NCT02412098 Phase 1
26 Pharmacokinetics of Eleclazine in Adults With Normal and Impaired Renal Function Completed NCT02441829 Phase 1
27 Study Evaluating the Effects of Multiple Oral Doses of ERB-041 on Cardiac Repolarization in Healthy Subjects Completed NCT00316459 Phase 1
28 Evaluation of Possible Effects on the QT/ QTc Interval of Rupatadine in Healthy Volunteers Completed NCT00199225 Phase 1
29 Genetic Sources of Variability of the Adaptation of the Ventricular Repolarisation Completed NCT00773201 Phase 1
30 Ability of Late Sodium or Calcium Current Block to Balance the ECG Effects of Potassium Current Block Completed NCT02308748 Phase 1
31 Selections of Subjects With Important Changes in Their Cardiac Repolarization Parameters for the Procurement of Skin and Blood Samples Completed NCT01338441 Phase 1
32 To Investigate the Effect of Intravenous Ondansetron on Cardiac Conduction as Compared to Placebo and Moxifloxacin in Healthy Adult Subjects Completed NCT01449188 Phase 1
33 Food and Insulin Effect on QT/QTC Interval of ECG Completed NCT01642485 Phase 1
34 Study To Evaluate The Effect Of A Multiple Oral Dose Of PF-00232798 On QT Intervals In Healthy Subjects Completed NCT01140425 Phase 1
35 QT/QTc Study of 2 Doses of ADASUVE® Completed NCT01854710 Phase 1
36 A Phase 1 Study to Evaluate Effects of Sapropterin Dihydrochloride on QTc Intervals in Healthy Adult Subjects Completed NCT00789568 Phase 1
37 Methadone Pharmacokinetics and Cardiac Effects in Newborns Completed NCT00715988 Phase 1
38 A Dose Ranging Escalation Study of Tramadol Hydrochloride in Healthy Volunteers Completed NCT01947920 Phase 1
39 Safety and Pharmacokinetics of Quinidine Alone and in Combination With Dabigatran Etexilate Completed NCT02171624 Phase 1
40 CiPA Phase 1 ECG Biomarker Validation Study Recruiting NCT03070470 Phase 1
41 A Study Evaluating Safety and Pharmacokinetics of ABBV-221 in Subjects With Advanced Solid Tumor Types Likely to Exhibit Elevated Levels of Epidermal Growth Factor Receptor Recruiting NCT02365662 Phase 1
42 Effect of Potassium and Acetazolamide on People With Andersen-Tawil Syndrome Terminated NCT00839501 Phase 1
43 QT-Prolongation in Lung Transplantation Unknown status NCT02380365
44 Molecular Genetic Screening and Identification of Congenital Arrhythmogenic Diseases Unknown status NCT00221832
45 The Effect of Erythromycin on Occurrence of Leaks From Cervical Esophageal-Gastric Anastomosis After Trans-Hiatal Esophagectomy Unknown status NCT00373919
46 Antiarrythmic Drugs - Long-term Follow-up in the Modern Era Unknown status NCT01082055
47 Prospective Analysis Of Cardiac Function In Cirrhotic Patients By Echocardiography And Its Correlation With Events Unknown status NCT01433848
48 Typical Daily Experiences, Ischemia and Repolarization in Coronary Artery Disease Unknown status NCT01531231
49 The Long QT Syndrome in Pregnancy Completed NCT00488254
50 Long QT Syndrome-Population Genetics and Cardiac Studies Completed NCT00005176

Search NIH Clinical Center for Long Qt Syndrome

Cochrane evidence based reviews: long qt syndrome

Genetic Tests for Long Qt Syndrome

Genetic tests related to Long Qt Syndrome:

id Genetic test Affiliating Genes
1 Long Qt Syndrome 29 24

Anatomical Context for Long Qt Syndrome

MalaCards organs/tissues related to Long Qt Syndrome:

39
Testes, Heart, Brain, Eye

Publications for Long Qt Syndrome

Articles related to Long Qt Syndrome:

(show top 50) (show all 984)
id Title Authors Year
1
Sudden infant death syndrome due to long QT syndrome: a brief review of the genetic substrate and prevalence. ( 28316956 )
2017
2
Molecular Pathophysiology of Congenital Long QT Syndrome. ( 27807201 )
2017
3
A Precision Medicine Approach to the Rescue of Function on Malignant Calmodulinopathic Long-QT Syndrome. ( 27765793 )
2017
4
Considerations when using next-generation sequencing for genetic diagnosis of long-QT syndrome in the clinical testing laboratory. ( 27871843 )
2017
5
Genotype Positive Long QT Syndrome in Patients With Coexisting Congenital Heart Disease. ( 28532774 )
2017
6
Long QT syndrome and left ventricular noncompaction in 4 family members across 2 generations with KCNQ1 mutation. ( 28249770 )
2017
7
Sports participation in long QT syndrome. ( 28084960 )
2017
8
Genetic biomarkers for the risk of seizures in long QT syndrome. ( 27466471 )
2016
9
Ion channels, long QT syndrome and arrhythmogenesis in ageing. ( 28024120 )
2016
10
A Novel SCN5A Mutation Found in a Familial Case of Long QT Syndrome Complicated by Severe Left Ventricular Dysfunction. ( 28011106 )
2016
11
Sevoflurane-associated torsade de pointes in a patient with congenital long QT syndrome genotype 2. ( 27555138 )
2016
12
Common Genotypes of Long QT Syndrome in China and the Role of ECG Prediction. ( 26496715 )
2016
13
Long QT syndrome and life-threatening anaphylaxis: Is epinephrine safe? ( 27590635 )
2016
14
Letter by Amin et al Regarding Article, "Genetic Modifiers for the Long-QT Syndrome: How Important Is the Role of Variants in the 3' Untranslated Region of KCNQ1?" ( 27998948 )
2016
15
hERG long QT syndrome type 2 mutants need more than a chaperone to dance. ( 27477605 )
2016
16
I+1-Syntrophin Variant Identified in Drug-Induced Long QT Syndrome Increases Late Sodium Current. ( 27028743 )
2016
17
The Influence of Pregnancy in Patients with Congenital Long QT Syndrome. ( 27054604 )
2016
18
Beta Blocker Therapy for Long QT Syndrome and Catecholaminergic Polymorphic Ventricular Tachycardia: Are all beta blockers equivalent? ( 27659101 )
2016
19
Characterization of the novel mutant A78T-HERG from a long QT syndrome type 2 patient: Instability of the mutant protein and stabilization by heat shock factor 1. ( 27761169 )
2016
20
Effects of cardioactive drugs on human induced pluripotent stem cell derived long QT syndrome cardiomyocytes. ( 27026928 )
2016
21
Implantable cardioverter defibrillator treatment in long QT syndrome patients: a national study on adherence to international guidelines. ( 27936942 )
2016
22
Long QT Syndrome and Duodenal Ampullary Adenoma: A New Association. ( 27921062 )
2016
23
Early repolarization and risk of arrhythmia events in long QT syndrome. ( 27552577 )
2016
24
Reproducibility of corrected QT interval in pediatric genotyped long QT syndrome. ( 27882731 )
2016
25
The Jervell and Lange-Nielsen syndrome; atrial pacing combined with A9-blocker therapy, a favorable approach in young high-risk patients with long QT syndrome? ( 27451284 )
2016
26
I^-Blocker Adherence in Familial Long QT Syndrome. ( 27516460 )
2016
27
Clinical Aspects of Type 3 Long-QT Syndrome: An International Multicenter Study. ( 27566755 )
2016
28
Association of a congenital long QT syndrome type 1 with Takotsubo cardiomyopathy. ( 27525086 )
2016
29
A Neonate with Susceptibility to Long QT Syndrome Type 6 who Presented with Ventricular Fibrillation and Sudden Unexpected Infant Death. ( 27465075 )
2016
30
Is Symptomatic Long QT Syndrome Associated with Depression in Women and Men? ( 27553078 )
2016
31
The natural history of fetal long QT syndrome. ( 27539165 )
2016
32
Spectrum and Prevalence of CALM1-, CALM2-, and CALM3-Encoded Calmodulin Variants in Long QT Syndrome and Functional Characterization of a Novel Long QT Syndrome-Associated Calmodulin Missense Variant, E141G. ( 26969752 )
2016
33
QT Dynamics During Exercise in Asymptomatic Children with Long QT Syndrome Type 3. ( 26921063 )
2016
34
Gene-Specific Therapy for Congenital Long QT Syndrome: Are We There Yet? ( 26940926 )
2016
35
[Progress in research on defective protein trafficking and functional restoration in HERG-associated long QT syndrome]. ( 26829745 )
2016
36
Iron Overload Leading to Torsades de Pointes in I^-Thalassemia and Long QT Syndrome. ( 26920202 )
2016
37
Mechanisms of acquired long QT syndrome in patients with propionic academia. ( 26854997 )
2016
38
Update on the Diagnosis and Management of Familial Long QT Syndrome. ( 27262388 )
2016
39
Reply: Long-QT Syndrome, Brugada Syndrome, and Catecholaminergic Polymorphic Ventricular Tachycardia: A Tale of 3 Diseases : Ibutilide as a Torsade de Pointes Stress Test. ( 27282904 )
2016
40
A new hERG allosteric modulator rescues genetic and drug-induced long-QT syndrome phenotypes in cardiomyocytes from isogenic pairs of patient induced pluripotent stem cells. ( 27470144 )
2016
41
Contribution of a KCNH2 variant in genotyped long QT syndrome: Romano-Ward syndrome under double mutations and acquired long QT syndrome under heterozygote. ( 27816319 )
2016
42
Transgenic rabbit models to investigate the cardiac ion channel disease long QT syndrome. ( 27210307 )
2016
43
Compound Mutations Cause Increased Cardiac Events in Children with Long QT Syndrome: Can the Sequence Homology-Based Tools be Applied for Prediction of Phenotypic Severity? ( 27041096 )
2016
44
A novel transgenic rabbit model with reduced repolarization reserve: long QT syndrome caused by a dominant-negative mutation of KCNE1 gene. ( 27076034 )
2016
45
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
46
Cardiac Arrest with Clozapine and Olanzapine: Revealing Long QT Syndrome. ( 27996317 )
2016
47
Evaluation and Management of Athletes With Long QT Syndrome: An Evolved Paradigm. ( 27480102 )
2016
48
Further Insights in the Most Common SCN5A Mutation Causing Overlapping Phenotype of Long QT Syndrome, Brugada Syndrome, and Conduction Defect. ( 27381756 )
2016
49
Mutation analysis for the detection of long QT-syndrome (LQTS) associated SNPs. ( 27613431 )
2016
50
Long-QT Syndrome, Brugada Syndrome, and Catecholaminergic Polymorphic Ventricular Tachycardia: A Tale of 3 Diseases. ( 27282903 )
2016

Variations for Long Qt Syndrome

ClinVar genetic disease variations for Long Qt Syndrome:

6 (show top 50) (show all 114)
id Gene Variation Type Significance SNP ID Assembly Location
1 KCNQ1 NM_000218.2(KCNQ1): c.569G> A (p.Arg190Gln) single nucleotide variant Pathogenic rs120074178 GRCh37 Chromosome 11, 2591949: 2591949
2 KCNQ1 NM_000218.2(KCNQ1): c.760G> A (p.Val254Met) single nucleotide variant Pathogenic/Likely pathogenic rs120074179 GRCh37 Chromosome 11, 2593319: 2593319
3 KCNQ1 NM_000218.2(KCNQ1): c.1022C> A (p.Ala341Glu) single nucleotide variant Pathogenic rs12720459 GRCh37 Chromosome 11, 2604765: 2604765
4 KCNQ1 NM_000218.2(KCNQ1): c.1022C> T (p.Ala341Val) single nucleotide variant Pathogenic rs12720459 GRCh37 Chromosome 11, 2604765: 2604765
5 KCNQ1 NM_000218.2(KCNQ1): c.1663C> T (p.Arg555Cys) single nucleotide variant Pathogenic rs120074185 GRCh37 Chromosome 11, 2797262: 2797262
6 KCNQ1 NM_000218.2(KCNQ1): c.1032G> A (p.Ala344=) single nucleotide variant Pathogenic rs1800171 GRCh37 Chromosome 11, 2604775: 2604775
7 KCNQ1 NM_000218.2(KCNQ1): c.1760C> T (p.Thr587Met) single nucleotide variant Pathogenic rs120074189 GRCh37 Chromosome 11, 2799233: 2799233
8 KCNQ1 NM_000218.2(KCNQ1): c.805G> A (p.Gly269Ser) single nucleotide variant Pathogenic rs120074193 GRCh37 Chromosome 11, 2594100: 2594100
9 KCNQ1 NM_000218.2(KCNQ1): c.806G> A (p.Gly269Asp) single nucleotide variant Pathogenic rs120074194 GRCh37 Chromosome 11, 2594101: 2594101
10 CAV3 NM_033337.2(CAV3): c.277G> A (p.Ala93Thr) single nucleotide variant Pathogenic/Likely pathogenic rs28936686 GRCh37 Chromosome 3, 8787374: 8787374
11 KCNE1 NM_000219.5(KCNE1): c.226G> A (p.Asp76Asn) single nucleotide variant Pathogenic/Likely pathogenic rs74315445 GRCh37 Chromosome 21, 35821707: 35821707
12 KCNH2 NM_000238.3(KCNH2): c.1682C> T (p.Ala561Val) single nucleotide variant Pathogenic rs121912504 GRCh37 Chromosome 7, 150648799: 150648799
13 DSP NM_004415.3(DSP): c.3799C> T (p.Arg1267Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121912997 GRCh37 Chromosome 6, 7580222: 7580222
14 CACNA1C NM_000719.6(CACNA1C): c.1216G> A (p.Gly406Arg) single nucleotide variant Pathogenic rs79891110 GRCh37 Chromosome 12, 2614110: 2614110
15 KCNH2 NM_000238.3(KCNH2): c.1841C> T (p.Ala614Val) single nucleotide variant Pathogenic rs199472944 GRCh37 Chromosome 7, 150648640: 150648640
16 KCNQ1 NM_000218.2(KCNQ1): c.905C> T (p.Ala302Val) single nucleotide variant Pathogenic rs193922365 GRCh37 Chromosome 11, 2594200: 2594200
17 KCNQ1 NM_000218.2(KCNQ1): c.613G> A (p.Val205Met) single nucleotide variant Pathogenic rs151344631 GRCh37 Chromosome 11, 2592563: 2592563
18 KCNQ1 NM_000218.2(KCNQ1): c.1017_1019delCTT (p.Phe340del) deletion Pathogenic rs397508068 GRCh37 Chromosome 11, 2604760: 2604762
19 KCNQ1 NM_000218.2(KCNQ1): c.1032+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs397508070 GRCh37 Chromosome 11, 2604776: 2604776
20 KCNQ1 NM_000218.2(KCNQ1): c.1033G> C (p.Gly345Arg) single nucleotide variant Pathogenic rs199473471 GRCh37 Chromosome 11, 2606442: 2606442
21 KCNQ1 NM_000218.2(KCNQ1): c.1066C> T (p.Gln356Ter) single nucleotide variant Pathogenic rs397508072 GRCh37 Chromosome 11, 2606475: 2606475
22 KCNQ1 NM_000218.2(KCNQ1): c.1075C> T (p.Gln359Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397508075 GRCh37 Chromosome 11, 2606484: 2606484
23 KCNQ1 NM_000218.2(KCNQ1): c.1096C> T (p.Arg366Trp) single nucleotide variant Pathogenic rs199473411 GRCh37 Chromosome 11, 2606505: 2606505
24 KCNQ1 NM_000218.2(KCNQ1): c.1265delA (p.Lys422Serfs) deletion Pathogenic rs397508083 GRCh37 Chromosome 11, 2609956: 2609956
25 KCNQ1 NM_000218.2(KCNQ1): c.1343dupC (p.Glu449Argfs) duplication Pathogenic rs397508088 GRCh37 Chromosome 11, 2610034: 2610034
26 KCNQ1 NM_000218.2(KCNQ1): c.153C> G (p.Tyr51Ter) single nucleotide variant Pathogenic rs397508096 GRCh37 Chromosome 11, 2466481: 2466481
27 KCNQ1 NM_000218.2(KCNQ1): c.1559T> G (p.Met520Arg) single nucleotide variant Pathogenic/Likely pathogenic rs199473479 GRCh37 Chromosome 11, 2790118: 2790118
28 KCNQ1 NM_000218.2(KCNQ1): c.1588C> T (p.Gln530Ter) single nucleotide variant Pathogenic rs397508097 GRCh37 Chromosome 11, 2790147: 2790147
29 KCNQ1 NM_000218.2(KCNQ1): c.1615C> T (p.Arg539Trp) single nucleotide variant Pathogenic rs199472795 GRCh37 Chromosome 11, 2797214: 2797214
30 KCNQ1 NM_000218.2(KCNQ1): c.1637C> T (p.Ser546Leu) single nucleotide variant Pathogenic/Likely pathogenic rs199473480 GRCh37 Chromosome 11, 2797236: 2797236
31 KCNQ1 NM_000218.2(KCNQ1): c.1664G> A (p.Arg555His) single nucleotide variant Pathogenic rs199472800 GRCh37 Chromosome 11, 2797263: 2797263
32 KCNQ1 NM_000218.2(KCNQ1): c.1700T> C (p.Ile567Thr) single nucleotide variant Pathogenic rs199472805 GRCh37 Chromosome 11, 2798230: 2798230
33 KCNQ1 NM_000218.2(KCNQ1): c.1781G> A (p.Arg594Gln) single nucleotide variant Pathogenic/Likely pathogenic rs199472815 GRCh37 Chromosome 11, 2799254: 2799254
34 KCNQ1 NM_000218.2(KCNQ1): c.1893delC (p.Arg632Glufs) deletion Pathogenic rs397508104 GRCh37 Chromosome 11, 2869095: 2869095
35 KCNQ1 NM_000218.2(KCNQ1): c.1893dupC (p.Arg632Glnfs) duplication Pathogenic rs397508105 GRCh37 Chromosome 11, 2869095: 2869095
36 KCNQ1 NM_000218.2(KCNQ1): c.477+5G> A single nucleotide variant Pathogenic rs397508111 GRCh37 Chromosome 11, 2549253: 2549253
37 KCNQ1 NM_000218.2(KCNQ1): c.502G> A (p.Gly168Arg) single nucleotide variant Pathogenic rs179489 GRCh37 Chromosome 11, 2591882: 2591882
38 KCNQ1 NM_000218.2(KCNQ1): c.513C> G (p.Tyr171Ter) single nucleotide variant Pathogenic rs139042529 GRCh37 Chromosome 11, 2591893: 2591893
39 KCNQ1 NM_000218.2(KCNQ1): c.520C> T (p.Arg174Cys) single nucleotide variant Pathogenic rs199472696 GRCh37 Chromosome 11, 2591900: 2591900
40 KCNQ1 NM_000218.2(KCNQ1): c.567dupG (p.Arg190Alafs) duplication Pathogenic rs397508117 GRCh37 Chromosome 11, 2591947: 2591947
41 KCNQ1 NM_000218.2(KCNQ1): c.573_577delGCGCT (p.Arg192Cysfs) deletion Pathogenic rs397508118 GRCh37 Chromosome 11, 2591953: 2591957
42 KCNQ1 NM_000218.2(KCNQ1): c.585delG (p.Lys196Serfs) deletion Pathogenic/Likely pathogenic rs397508120 GRCh37 Chromosome 11, 2591965: 2591965
43 KCNQ1 NM_000218.2(KCNQ1): c.674C> T (p.Ser225Leu) single nucleotide variant Pathogenic/Likely pathogenic rs199473456 GRCh37 Chromosome 11, 2592624: 2592624
44 KCNQ1 NM_000218.2(KCNQ1): c.692G> A (p.Arg231His) single nucleotide variant Pathogenic rs199472709 GRCh37 Chromosome 11, 2593251: 2593251
45 KCNQ1 NM_000218.2(KCNQ1): c.704T> A (p.Ile235Asn) single nucleotide variant Pathogenic rs199472710 GRCh37 Chromosome 11, 2593263: 2593263
46 KCNQ1 NM_000218.2(KCNQ1): c.724G> A (p.Asp242Asn) single nucleotide variant Pathogenic/Likely pathogenic rs199472712 GRCh37 Chromosome 11, 2593283: 2593283
47 KCNQ1 NM_000218.2(KCNQ1): c.727C> T (p.Arg243Cys) single nucleotide variant Pathogenic rs199472713 GRCh37 Chromosome 11, 2593286: 2593286
48 KCNQ1 NM_000218.2(KCNQ1): c.775C> T (p.Arg259Cys) single nucleotide variant Pathogenic/Likely pathogenic rs199472719 GRCh37 Chromosome 11, 2593334: 2593334
49 KCNQ1 NM_000218.2(KCNQ1): c.776G> A (p.Arg259His) single nucleotide variant Pathogenic rs199472720 GRCh37 Chromosome 11, 2593335: 2593335
50 KCNQ1 NM_000218.2(KCNQ1): c.797T> C (p.Leu266Pro) single nucleotide variant Pathogenic/Likely pathogenic rs199473460 GRCh37 Chromosome 11, 2594092: 2594092

Copy number variations for Long Qt Syndrome from CNVD:

7
id CNVD ID Chromosom 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 rearrangemen t KCNE2 Long-qt syndrome
4 221894 7 147500000 154700000 Genomic rearrangement KCNH2 Long-qt syndrome
5 221896 11 2422796 2826916 Genomic rearrangemen t KCNQ1 Long-qt syndrome
6 221898 3 38564556 38666167 Genomic rearrangemen t SCN5A Long-qt syndrome
7 221930 7 147900000 152600000 Loss Long-qt syndrome

Expression for Long Qt Syndrome

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

Pathways for Long Qt Syndrome

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

(show top 50) (show all 59)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.57 AKAP9 CACNA1C CALM1 CALM2 CALM3 RYR2
2
Show member pathways
13.51 AKAP9 ANK2 CACNA1C CALM1 CALM2 CALM3
3
Show member pathways
13.1 AKAP9 CACNA1C CALM1 CALM2 CALM3 RYR2
4
Show member pathways
12.96 AKAP9 CALM1 CALM2 CALM3 KCND2 KCND3
5
Show member pathways
12.89 AKAP9 CACNA1C CALM1 CALM2 CALM3 CAV3
6
Show member pathways
12.86 CACNA1C CALM1 CALM2 CALM3 KCNJ5 SCN4B
7
Show member pathways
12.83 CACNA1C CALM1 CALM2 CALM3 KCNE1 KCNJ2
8
Show member pathways
12.79 CACNA1C CALM1 CALM2 CALM3 KCNJ5
9
Show member pathways
12.75 CACNA1C CALM1 CALM2 CALM3 KCNJ2 KCNJ5
10
Show member pathways
12.5 CACNA1C CALM1 CALM2 CALM3 KCNJ5 RYR2
11
Show member pathways
12.46 CACNA1C CALM1 CALM2 CALM3 RYR2 SNTA1
12
Show member pathways
12.41 CACNA1C CALM1 CALM2 CALM3 RYR2
13
Show member pathways
12.32 CACNA1C CALM1 CALM2 CALM3
14 12.32 AKAP9 CACNA1C CALM1 CALM2 CALM3 KCND2
15
Show member pathways
12.3 CACNA1C CALM1 CALM2 CALM3 RYR2
16
Show member pathways
12.24 AKAP9 CALM1 CALM2 CALM3
17
Show member pathways
12.23 CACNA1C CALM1 CALM2 CALM3 RYR2
18
Show member pathways
12.21 CACNA1C CALM1 CALM2 CALM3
19
Show member pathways
12.19 CALM1 CALM2 CALM3 KCNE2 KCNJ2 KCNQ1
20
Show member pathways
12.13 CACNA1C CALM1 CALM2 CALM3
21 12.12 CAV3 KCNH2 KCNQ1 RYR2 SCN4B SCN5A
22 12.11 CALM1 CALM2 CALM3 CAV3
23 12.1 CALM1 CALM2 CALM3 RYR2
24
Show member pathways
12.08 KCND2 KCND3 KCNH2 KCNJ2 KCNJ5 KCNQ1
25
Show member pathways
12.03 CACNA1C CALM1 CALM2 CALM3
26
Show member pathways
12.01 CACNA1C CALM1 CALM2 CALM3
27
Show member pathways
11.93 CALM1 CALM2 CALM3
28 11.91 CALM1 CALM2 CALM3
29 11.91 CALM1 CALM2 CALM3
30
Show member pathways
11.88 CALM1 CALM2 CALM3
31
Show member pathways
11.86 CALM1 CALM2 CALM3
32
Show member pathways
11.85 CALM1 CALM2 CALM3
33
Show member pathways
11.85 CALM1 CALM2 CALM3
34
Show member pathways
11.78 CALM1 CALM2 CALM3
35
Show member pathways
11.77 CALM1 CALM2 CALM3
36
Show member pathways
11.76 CALM1 CALM2 CALM3
37 11.76 CALM1 CALM2 CALM3
38 11.74 CALM1 CALM2 CALM3
39
Show member pathways
11.69 CALM1 CALM2 CALM3
40 11.67 CACNA1C CALM1 CALM2 CALM3 KCNJ2
41 11.66 CALM1 CALM2 CALM3
42
Show member pathways
11.65 CALM1 CALM2 CALM3
43 11.56 CALM1 CALM2 CALM3
44 11.48 ANK2 CACNA1C KCND3 KCNE1 KCNE2 KCNH2
45 11.39 CALM1 CALM2 CALM3
46 11.37 CALM1 CALM2 CALM3
47 11.37 CALM1 CALM2 CALM3 CAV3
48 11.34 CALM1 CALM2 CALM3
49 11.31 CALM1 CALM2 CALM3
50 11.29 ANK2 SCN4B SCN5A

GO Terms for Long Qt Syndrome

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

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.95 CAV3 KCNE1 KCNE2 KCNH2 SCN5A
2 plasma membrane GO:0005886 9.93 ALG10B ANK2 CACNA1C CALM1 CALM2 CALM3
3 membrane raft GO:0045121 9.83 ANK2 CAV3 KCNE1 KCNQ1
4 sarcolemma GO:0042383 9.8 ANK2 CAV3 KCND3 SCN5A SNTA1
5 Z disc GO:0030018 9.8 ANK2 CACNA1C CAV3 KCNE1 RYR2 SCN5A
6 vesicle GO:0031982 9.78 CALM1 CALM2 CALM3 CAV3
7 sarcomere GO:0030017 9.73 CALM1 CALM2 CALM3 RYR2
8 calcium channel complex GO:0034704 9.67 CALM1 CALM2 CALM3 RYR2
9 intercalated disc GO:0014704 9.65 ANK2 CAV3 KCNJ2 SCN4B SCN5A
10 spindle microtubule GO:0005876 9.63 CALM1 CALM2 CALM3
11 T-tubule GO:0030315 9.55 ANK2 CAV3 KCNJ2 KCNJ5 SCN5A
12 voltage-gated sodium channel complex GO:0001518 9.54 SCN4B SCN5A
13 voltage-gated potassium channel complex GO:0008076 9.28 AKAP9 KCND2 KCND3 KCNE1 KCNE2 KCNH2
14 membrane GO:0016020 10.41 ALG10B ANK2 CACNA1C CAV3 KCND2 KCND3
15 integral component of membrane GO:0016021 10.34 ALG10B CACNA1C CAV3 KCND2 KCND3 KCNE1

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

(show top 50) (show all 80)
id Name GO ID Score Top Affiliating Genes
1 regulation of cardiac muscle contraction GO:0055117 9.97 ANK2 CALM1 CALM2 CALM3 CAV3 RYR2
2 regulation of membrane repolarization GO:0060306 9.96 AKAP9 KCNE2 KCNH2 KCNJ2 KCNQ1
3 cardiac conduction GO:0061337 9.96 AKAP9 CACNA1C KCND2 KCND3 KCNE1 KCNE2
4 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.95 KCND3 KCNE1 KCNH2 KCNJ2 KCNQ1
5 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.95 ANK2 CACNA1C CALM1 CALM2 CALM3 RYR2
6 cellular response to drug GO:0035690 9.92 KCNE2 KCNH2 KCNQ1
7 response to calcium ion GO:0051592 9.92 CALM1 CALM2 CALM3
8 potassium ion export GO:0071435 9.92 KCND3 KCNE1 KCNE2 KCNH2 KCNQ1
9 cellular response to cAMP GO:0071320 9.91 AKAP9 KCNE1 KCNQ1
10 inositol phosphate metabolic process GO:0043647 9.91 CALM1 CALM2 CALM3
11 positive regulation of potassium ion transmembrane transport GO:1901381 9.91 KCNE1 KCNH2 KCNJ2 KCNQ1
12 detection of calcium ion GO:0005513 9.91 CALM1 CALM2 CALM3 RYR2
13 cardiac muscle cell action potential involved in contraction GO:0086002 9.91 CACNA1C KCNE1 KCNE2 KCNJ2 SCN4B SCN5A
14 substantia nigra development GO:0021762 9.9 CALM1 CALM2 CALM3
15 protein methylation GO:0006479 9.9 CALM1 CALM2 CALM3
16 positive regulation of protein serine/threonine kinase activity GO:0071902 9.89 CALM1 CALM2 CALM3
17 Wnt signaling pathway, calcium modulating pathway GO:0007223 9.89 CALM1 CALM2 CALM3
18 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.89 CACNA1C KCNJ2 SCN4B SCN5A
19 positive regulation of peptidyl-threonine phosphorylation GO:0010800 9.88 CALM1 CALM2 CALM3
20 regulation of rhodopsin mediated signaling pathway GO:0022400 9.88 CALM1 CALM2 CALM3
21 membrane repolarization GO:0086009 9.88 KCND3 KCNE1 KCNE2 KCNQ1
22 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.88 KCND3 KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
23 regulation of nitric-oxide synthase activity GO:0050999 9.87 CALM1 CALM2 CALM3
24 potassium ion import GO:0010107 9.87 KCNE2 KCNJ2 KCNJ5
25 positive regulation of protein autophosphorylation GO:0031954 9.86 CALM1 CALM2 CALM3
26 regulation of cytokinesis GO:0032465 9.86 CALM1 CALM2 CALM3
27 positive regulation of protein dephosphorylation GO:0035307 9.86 CALM1 CALM2 CALM3
28 glycogen catabolic process GO:0005980 9.85 CALM1 CALM2 CALM3
29 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.85 CALM1 CALM2 CALM3
30 regulation of potassium ion transmembrane transport GO:1901379 9.85 KCNE1 KCNE2 KCNH2
31 membrane repolarization during action potential GO:0086011 9.85 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
32 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.85 AKAP9 ANK2 CAV3 KCNE1 KCNE2 KCNH2
33 negative regulation of peptidyl-threonine phosphorylation GO:0010801 9.84 CALM1 CALM2 CALM3
34 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.84 CALM1 CALM2 CALM3
35 regulation of cardiac muscle cell contraction GO:0086004 9.83 ANK2 KCNJ2 SCN5A
36 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.83 CALM1 CALM2 CALM3
37 atrial cardiac muscle cell action potential GO:0086014 9.83 ANK2 KCNQ1 SCN5A
38 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 9.82 CALM1 CALM2 CALM3
39 regulation of cell communication by electrical coupling involved in cardiac conduction GO:1901844 9.82 CALM1 CALM2 CALM3
40 positive regulation of cyclic-nucleotide phosphodiesterase activity GO:0051343 9.81 CALM1 CALM2 CALM3
41 potassium ion export across plasma membrane GO:0097623 9.8 KCND3 KCNH2 KCNQ1
42 positive regulation of cyclic nucleotide metabolic process GO:0030801 9.8 CALM1 CALM2 CALM3
43 positive regulation of sodium ion transport GO:0010765 9.76 SCN4B SCN5A
44 calcium ion transport into cytosol GO:0060402 9.76 CACNA1C RYR2
45 cellular response to epinephrine stimulus GO:0071872 9.75 KCNQ1 RYR2
46 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.75 CACNA1C RYR2
47 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.75 CACNA1C RYR2
48 negative regulation of potassium ion transmembrane transport GO:1901380 9.75 CAV3 KCNH2
49 regulation of cardiac muscle cell action potential involved in regulation of contraction GO:0098909 9.75 AKAP9 CAV3
50 regulation of cardiac muscle contraction by calcium ion signaling GO:0010882 9.75 ANK2 RYR2

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

(show all 32)
id Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.98 CACNA1C KCNQ1 RYR2 SCN5A SNTA1
2 protein domain specific binding GO:0019904 9.96 CALM1 CALM2 CALM3 SCN5A
3 ion channel activity GO:0005216 9.92 CACNA1C KCND2 KCNH2 RYR2 SCN5A
4 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.91 AKAP9 CALM1 CALM2 CALM3
5 potassium channel activity GO:0005267 9.85 KCND2 KCND3 KCNE1 KCNE2 KCNH2 KCNQ1
6 scaffold protein binding GO:0097110 9.81 KCNH2 KCNQ1 SCN5A
7 sodium channel regulator activity GO:0017080 9.81 CAV3 SCN4B SCN5A SNTA1
8 voltage-gated potassium channel activity GO:0005249 9.8 KCND2 KCND3 KCNE1 KCNE2 KCNH2 KCNQ1
9 potassium channel regulator activity GO:0015459 9.79 AKAP9 KCNE1 KCNE2
10 ligand-gated ion channel activity GO:0015276 9.79 CALM1 CALM2 CALM3
11 inward rectifier potassium channel activity GO:0005242 9.78 KCNE2 KCNH2 KCNJ2 KCNJ5
12 protein serine/threonine kinase activator activity GO:0043539 9.77 CALM1 CALM2 CALM3
13 ion channel binding GO:0044325 9.77 AKAP9 ANK2 CALM1 CALM2 CALM3 CAV3
14 delayed rectifier potassium channel activity GO:0005251 9.76 KCNE1 KCNE2 KCNH2 KCNQ1
15 protein kinase A regulatory subunit binding GO:0034237 9.75 AKAP9 KCNQ1 RYR2
16 phospholipase binding GO:0043274 9.74 CALM1 CALM2 CALM3
17 titin binding GO:0031432 9.73 CALM1 CALM2 CALM3
18 thioesterase binding GO:0031996 9.72 CALM1 CALM2 CALM3
19 inositol-1,4,5-trisphosphate 3-kinase activity GO:0008440 9.71 CALM1 CALM2 CALM3
20 nitric-oxide synthase binding GO:0050998 9.71 CALM1 CAV3 SCN5A SNTA1
21 protein phosphatase activator activity GO:0072542 9.67 CALM1 CALM2 CALM3
22 protein kinase A catalytic subunit binding GO:0034236 9.65 KCNQ1 RYR2
23 G-protein activated inward rectifier potassium channel activity GO:0015467 9.65 KCNJ2 KCNJ5
24 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.65 KCND3 KCNE1 KCNH2 KCNJ2 KCNQ1
25 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.63 SCN4B SCN5A
26 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization GO:0086089 9.63 KCNJ5 KCNQ1
27 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.63 KCND3 KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
28 A-type (transient outward) potassium channel activity GO:0005250 9.62 KCND2 KCND3
29 N-terminal myristoylation domain binding GO:0031997 9.61 CALM1 CALM2 CALM3
30 voltage-gated ion channel activity GO:0005244 9.32 CACNA1C KCND2 KCND3 KCNE2 KCNH2 KCNJ2
31 protein binding GO:0005515 10.57 AKAP9 ANK2 CACNA1C CALM1 CALM2 CALM3
32 protein kinase binding GO:0019901 10.08 ANK2 CALM1 CALM2 CALM3 RYR2 SCN5A

Sources for Long Qt Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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