MCID: LNG051
MIFTS: 50

Long Qt Syndrome 6

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Long Qt Syndrome 6

MalaCards integrated aliases for Long Qt Syndrome 6:

Name: Long Qt Syndrome 6 54 12 50 24 71 29 14 69
Lqt6 12 50 24 71
Susceptibility to Acquired Long Qt Syndrome 6 71
Long Qt Syndrome 3/6 71
Long Qt Syndrome 3-6 69
Long Qt Syndrome-6 13
Lqt3/6 71
Lqt 6 24

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
association of cardiac events with exercise
genetic heterogeneity (see lqt1 )
patients with more severe phenotype have been reported with mutations in more than 1 lqt-related gene
gei (gene-environment interaction) - association of cardiac events with drug administration


HPO:

32
long qt syndrome 6:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



Summaries for Long Qt Syndrome 6

OMIM : 54
Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999). For a discussion of genetic heterogeneity of long QT syndrome, see LQT1 (192500). (613693)

MalaCards based summary : Long Qt Syndrome 6, also known as lqt6, is related to cardiac conduction disease with or without dilated cardiomyopathy and endocardium disease, and has symptoms including syncope, sudden cardiac death and torsade de pointes. An important gene associated with Long Qt Syndrome 6 is KCNE2 (Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 2), and among its related pathways/superpathways are Vascular smooth muscle contraction and Circadian entrainment. The drugs Ranolazine and Diuretics, Potassium Sparing have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and testes, and related phenotypes are cardiovascular system and growth/size/body region

Disease Ontology : 12 A long QT interval syndrome that has material basis in dominant inheritance of mutation in the KCNE2 gene on chromosome 21q22.11.

UniProtKB/Swiss-Prot : 71 Long QT syndrome 6: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy.

Related Diseases for Long Qt Syndrome 6

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 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
id Related Disease Score Top Affiliating Genes
1 cardiac conduction disease with or without dilated cardiomyopathy 10.2 KCNH2 KCNQ1 SCN5A
2 endocardium disease 10.2 KCNE2 SCN5A
3 hyperaldosteronism, familial, type iii 10.2 KCNH2 KCNQ1 SCN5A
4 acute poisoning by drugs with membrane-stabilizing effect 10.1 KCNH2 KCNJ2 KCNQ1
5 microvillus inclusion disease 10.1 KCNE2 KCNJ2 SCN5A
6 arrhythmogenic right ventricular dysplasia 2 10.0 CASQ2 RYR2
7 chicken egg allergy 9.9 KCNQ1 RYR2 SCN5A
8 lipodystrophy, familial partial, type 5 9.8 KCNJ2 SCN5A
9 vascular erectile tumor 9.8 KCNH2 KCNJ2 KCNQ1 SCN5A
10 mental retardation, autosomal dominant 11 9.7 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
11 second-degree atrioventricular block 9.7 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
12 atrial fibrillation, familial, 10 9.7 KCNH2 KCNQ1 RYR2 SCN5A
13 uterine fibroid 9.7 CACNA1C SCN5A
14 umbilical hernia 9.5 CASQ2 KCNQ1 RYR2 SCN5A
15 brugada syndrome 3 9.5 CACNA1C KCNE1 KCNH2 KCNQ1
16 brugada syndrome 1 9.4 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
17 sick sinus syndrome 1 9.4 KCNE1 KCNE2 KCNH2 KCNQ1 RYR2 SCN5A
18 xanthogranulomatous pyelonephritis 9.3 KCNH2 KCNJ2 KCNQ1 RYR2 SCN5A
19 syne1-related emery-dreifuss muscular dystrophy 9.2 ANK2 KCNE1 KCNH2 KCNJ2 KCNQ1 SCN5A
20 autoimmune disease of skin and connective tissue 9.0 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 RYR2
21 atrial fibrillation, familial, 3 8.9 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
22 hyperphosphatemia 8.9 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
23 vitelliform macular dystrophy 8.9 GLE1 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
24 prostate malignant phyllodes tumor 8.7 CASQ2 KCNE1 KCNH2 KCNJ2 KCNQ1 RYR2
25 short qt syndrome 1 8.7 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
26 ventricular tachycardia, catecholaminergic polymorphic, 1 8.7 ANK2 CASQ2 KCNH2 KCNJ2 KCNQ1 RYR2
27 acrofrontofacionasal dysostosis 8.6 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
28 intellectual disability-cataracts-kyphosis syndrome 8.6 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
29 cone dystrophy 8.6 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
30 pigment dispersion syndrome 8.2 ANK2 CASQ2 KCNE1 KCNE2 KCNH2 KCNJ2
31 hairy cell leukemia 7.8 ANK2 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2
32 zttk syndrome 7.5 ANK2 CASQ2 KCNE1 KCNE2 KCNH2 KCNJ2
33 jervell and lange-nielsen syndrome 7.3 ANK2 CACNA1C CASQ2 KCNE1 KCNE2 KCNH2
34 keppen-lubinsky syndrome 5.7 ANK2 CACNA1C CASQ2 GLE1 KCNE1 KCNE2

Graphical network of the top 20 diseases related to Long Qt Syndrome 6:



Diseases related to Long Qt Syndrome 6

Symptoms & Phenotypes for Long Qt Syndrome 6

Symptoms via clinical synopsis from OMIM:

54

Cardiovascular- Heart:
prolonged qt interval on ekg
syncope
torsade de pointes
ventricular fibrillation
sudden cardiac death


Clinical features from OMIM:

613693

Human phenotypes related to Long Qt Syndrome 6:

32
id Description HPO Frequency HPO Source Accession
1 syncope 32 HP:0001279
2 sudden cardiac death 32 HP:0001645
3 torsade de pointes 32 HP:0001664
4 ventricular fibrillation 32 HP:0001663
5 prolonged qt interval 32 HP:0001657

UMLS symptoms related to Long Qt Syndrome 6:


syncope

MGI Mouse Phenotypes related to Long Qt Syndrome 6:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.86 CACNA1C CASQ2 KCNH2 KCNJ2 KCNQ1 MGP
2 growth/size/body region MP:0005378 9.81 MGP RYR2 SCN5A SGK1 CASQ2 KCNE2
3 homeostasis/metabolism MP:0005376 9.61 CACNA1C CASQ2 KCNE2 KCNH2 KCNJ2 KCNQ1
4 muscle MP:0005369 9.23 CACNA1C CASQ2 KCNH2 KCNJ2 KCNQ1 MGP

Drugs & Therapeutics for Long Qt Syndrome 6

Drugs for Long Qt Syndrome 6 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 66)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ranolazine Approved, Investigational Phase 2 142387-99-3, 95635-55-5 56959
2 Diuretics, Potassium Sparing Phase 2
3 Sodium Channel Blockers Phase 2
4
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 1 437-38-7 3345
5
Guaifenesin Approved, Vet_approved Phase 1 93-14-1 3516
6
Methadone Approved Phase 1 76-99-3 4095
7
Morphine Approved, Investigational Phase 1 57-27-2 5288826
8
Tramadol Approved, Investigational Phase 1 27203-92-5 33741
9 Analgesics Phase 1
10 Analgesics, Opioid Phase 1
11 Antitussive Agents Phase 1
12 Central Nervous System Depressants Phase 1
13 Chlorpheniramine, phenylpropanolamine drug combination Phase 1
14 Narcotics Phase 1
15 Peripheral Nervous System Agents Phase 1
16 Pharmaceutical Solutions Phase 1
17 Respiratory System Agents Phase 1
18
Epinephrine Approved, Vet_approved 51-43-4 5816
19 Racepinephrine Approved
20
Lidocaine Approved, Vet_approved 137-58-6 3676
21
Ondansetron Approved 99614-02-5 4595
22
Estradiol Approved, Investigational, Vet_approved 50-28-2 5757
23
Ethinyl Estradiol Approved 57-63-6 5991
24
Moxifloxacin Approved, Investigational 354812-41-2, 151096-09-2 152946
25
Norgestimate Approved 35189-28-7 6540478
26 Adrenergic Agents
27 Adrenergic Agonists
28 Adrenergic alpha-Agonists
29 Adrenergic beta-Agonists
30 Anti-Asthmatic Agents
31 Autonomic Agents
32 Bronchodilator Agents
33 Epinephryl borate
34 Mydriatics
35 Neurotransmitter Agents
36 Vasoconstrictor Agents
37 Anesthetics
38 Anesthetics, Local
39 Anti-Arrhythmia Agents
40 Anti-Anxiety Agents
41 Antiemetics
42 Antipruritics
43 Antipsychotic Agents
44 Dermatologic Agents
45 Gastrointestinal Agents
46 Psychotropic Drugs
47
Serotonin 50-67-9 5202
48 Serotonin 5-HT3 Receptor Antagonists
49 Serotonin Agents
50 Serotonin Antagonists

Interventional clinical trials:

(show all 14)

id Name Status NCT ID Phase Drugs
1 Efficacy Study of Sodium Channel Blocker in LQT3 Patients Recruiting NCT01648205 Phase 2 Placebo;Ranolazine
2 Renal Nerve Stimulation and Renal Denervation in Patients With Sympathetic Ventricular Arrhythmias Recruiting NCT02856373 Phase 2
3 Study of the Effect of GS-6615 in Subjects With LQT-3 Completed NCT01849003 Phase 1 GS-6615
4 Pharmacokinetics of Eleclazine in Adults With Normal and Impaired Hepatic Function Completed NCT02412098 Phase 1 Eleclazine
5 Pharmacokinetics of Eleclazine in Adults With Normal and Impaired Renal Function Completed NCT02441829 Phase 1 Eleclazine
6 Methadone Pharmacokinetics and Cardiac Effects in Newborns Completed NCT00715988 Phase 1 Methadone HCl Inject 10 mg/ml (will require dilution);Methadone
7 A Dose Ranging Escalation Study of Tramadol Hydrochloride in Healthy Volunteers Completed NCT01947920 Phase 1 Tramadol HCl, 50 mg;Placebo
8 QT-Prolongation in Lung Transplantation Unknown status NCT02380365
9 QT-prolongation in Psychiatric Hospitals Completed NCT02043925 drugs linked with QT-prolongation
10 Comparison Between Epinephrine and Exercise Test in QT Long Syndrome Patients Recruiting NCT01745666
11 Safety of Local Dental Anesthesia in Patients With Cardiac Channelopathies Recruiting NCT03182777
12 5-HT3 Antagonists (Antiemetics) and Cardiac Safety Recruiting NCT02436798 Ondansetron
13 Effect of Antenatal SSRI Exposure on the QT Interval of Neonates Recruiting NCT02492347
14 Effect of Grapefruit on QT Interval in Healthy Volunteers and Patients With Congenital Long QT Syndrome Not yet recruiting NCT02680080 Moxifloxacin

Search NIH Clinical Center for Long Qt Syndrome 6

Genetic Tests for Long Qt Syndrome 6

Genetic tests related to Long Qt Syndrome 6:

id Genetic test Affiliating Genes
1 Long Qt Syndrome 6 29 24 KCNE2

Anatomical Context for Long Qt Syndrome 6

MalaCards organs/tissues related to Long Qt Syndrome 6:

39
Heart, Lung, Testes

Publications for Long Qt Syndrome 6

Variations for Long Qt Syndrome 6

UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 6:

71
id Symbol AA change Variation ID SNP ID
1 KCNE2 p.Met54Thr VAR_008377 rs74315447
2 KCNE2 p.Ile57Thr VAR_008378 rs74315448
3 KCNE2 p.Val65Met VAR_015063 rs199473364
4 KCNE2 p.Phe60Leu VAR_029334 rs16991654
5 KCNE2 p.Arg77Trp VAR_035386 rs141423405

ClinVar genetic disease variations for Long Qt Syndrome 6:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 KCNE2 NM_172201.1(KCNE2): c.25C> G (p.Gln9Glu) single nucleotide variant risk factor rs16991652 GRCh37 Chromosome 21, 35742802: 35742802
2 KCNE2 NM_172201.1(KCNE2): c.161T> C (p.Met54Thr) single nucleotide variant Pathogenic/Likely pathogenic rs74315447 GRCh37 Chromosome 21, 35742938: 35742938

Expression for Long Qt Syndrome 6

Search GEO for disease gene expression data for Long Qt Syndrome 6.

Pathways for Long Qt Syndrome 6

Pathways related to Long Qt Syndrome 6 according to GeneCards Suite gene sharing:

(show all 11)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.61 CACNA1C KCNE1 KCNJ2 KCNQ1 RYR2 SCN5A
2
Show member pathways
12.45 CACNA1C KCNJ2 KCNQ1 RYR2
3
Show member pathways
12.29 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
4 12.09 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
5 11.92 KCNH2 KCNQ1 RYR2 SCN5A
6
Show member pathways
11.85 KCNE2 KCNJ2 KCNQ1
7
Show member pathways
11.78 KCNH2 KCNJ2 KCNQ1
8
Show member pathways
11.43 CACNA1C KCNE1 KCNE2 KCNQ1 SCN5A
9 11.07 ANK2 CACNA1C CASQ2 KCNE1 KCNE2 KCNH2
10 10.97 ANK2 SCN5A
11 10.78 KCNE1 KCNJ2 KCNQ1

GO Terms for Long Qt Syndrome 6

Cellular components related to Long Qt Syndrome 6 according to GeneCards Suite gene sharing:

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 sarcoplasmic reticulum membrane GO:0033017 9.48 CASQ2 RYR2
2 voltage-gated calcium channel complex GO:0005891 9.46 CACNA1C CASQ2
3 smooth endoplasmic reticulum GO:0005790 9.43 KCNJ2 RYR2
4 intercalated disc GO:0014704 9.43 ANK2 KCNJ2 SCN5A
5 calcium channel complex GO:0034704 9.4 CASQ2 RYR2
6 voltage-gated potassium channel complex GO:0008076 9.35 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
7 T-tubule GO:0030315 9.33 ANK2 KCNJ2 SCN5A
8 junctional sarcoplasmic reticulum membrane GO:0014701 9.32 CASQ2 RYR2
9 Z disc GO:0030018 9.1 ANK2 CACNA1C CASQ2 KCNE1 RYR2 SCN5A
10 membrane GO:0016020 10.24 ANK2 CACNA1C GLE1 KCNE1 KCNE2 KCNH2
11 plasma membrane GO:0005886 10.07 ANK2 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2

Biological processes related to Long Qt Syndrome 6 according to GeneCards Suite gene sharing:

(show top 50) (show all 51)
id Name GO ID Score Top Affiliating Genes
1 potassium ion transmembrane transport GO:0071805 9.98 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
2 regulation of ion transmembrane transport GO:0034765 9.98 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
3 potassium ion transport GO:0006813 9.97 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
4 cardiac muscle contraction GO:0060048 9.91 CASQ2 KCNH2 KCNQ1 RYR2 SCN5A
5 regulation of heart rate GO:0002027 9.87 ANK2 CASQ2 RYR2 SCN5A
6 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.86 ANK2 CACNA1C CASQ2 RYR2
7 cellular response to drug GO:0035690 9.85 KCNE2 KCNH2 KCNQ1
8 positive regulation of potassium ion transmembrane transport GO:1901381 9.84 KCNE1 KCNH2 KCNJ2 KCNQ1
9 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.8 KCNE1 KCNH2 KCNJ2 KCNQ1
10 cardiac muscle cell action potential involved in contraction GO:0086002 9.8 CACNA1C KCNE1 KCNE2 KCNJ2 SCN5A
11 regulation of potassium ion transmembrane transport GO:1901379 9.79 KCNE1 KCNE2 KCNH2
12 regulation of cardiac muscle cell contraction GO:0086004 9.78 ANK2 KCNJ2 SCN5A
13 potassium ion export GO:0071435 9.78 KCNE1 KCNE2 KCNH2 KCNQ1
14 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.77 CACNA1C KCNJ2 SCN5A
15 atrial cardiac muscle cell action potential GO:0086014 9.77 ANK2 KCNQ1 SCN5A
16 regulation of membrane repolarization GO:0060306 9.77 CASQ2 KCNE2 KCNH2 KCNJ2 KCNQ1
17 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.76 KCNE1 KCNE2 KCNH2 KCNQ1
18 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.73 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
19 membrane repolarization during action potential GO:0086011 9.72 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
20 membrane depolarization during action potential GO:0086010 9.71 KCNH2 SCN5A
21 potassium ion import GO:0010107 9.71 KCNE2 KCNJ2
22 regulation of cardiac muscle contraction GO:0055117 9.71 ANK2 RYR2
23 positive regulation of heart rate GO:0010460 9.7 KCNQ1 RYR2
24 calcium ion transport into cytosol GO:0060402 9.7 CACNA1C RYR2
25 cellular response to epinephrine stimulus GO:0071872 9.7 KCNQ1 RYR2
26 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.7 CACNA1C RYR2
27 membrane repolarization GO:0086009 9.7 KCNE1 KCNE2 KCNQ1
28 cardiac conduction GO:0061337 9.7 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
29 detection of calcium ion GO:0005513 9.69 CASQ2 RYR2
30 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.69 CACNA1C RYR2
31 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.69 KCNE1 KCNE2
32 regulation of cardiac muscle contraction by calcium ion signaling GO:0010882 9.68 ANK2 RYR2
33 cellular response to caffeine GO:0071313 9.68 CASQ2 RYR2
34 regulation of delayed rectifier potassium channel activity GO:1902259 9.67 KCNE1 KCNE2
35 SA node cell action potential GO:0086015 9.67 ANK2 SCN5A
36 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.67 KCNQ1 SCN5A
37 membrane depolarization during SA node cell action potential GO:0086046 9.66 ANK2 SCN5A
38 sarcoplasmic reticulum calcium ion transport GO:0070296 9.66 ANK2 RYR2
39 membrane depolarization during AV node cell action potential GO:0086045 9.65 CACNA1C SCN5A
40 potassium ion export across plasma membrane GO:0097623 9.65 KCNH2 KCNQ1
41 regulation of atrial cardiac muscle cell action potential GO:0098910 9.65 ANK2 RYR2
42 regulation of gastric acid secretion GO:0060453 9.64 KCNQ1 SGK1
43 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.64 CACNA1C SCN5A
44 regulation of SA node cell action potential GO:0098907 9.63 ANK2 RYR2
45 Purkinje myocyte to ventricular cardiac muscle cell signaling GO:0086029 9.63 CASQ2 RYR2
46 regulation of heart rate by cardiac conduction GO:0086091 9.56 ANK2 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2
47 ventricular cardiac muscle cell action potential GO:0086005 9.17 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 RYR2
48 transport GO:0006810 10.26 CACNA1C GLE1 KCNE1 KCNE2 KCNH2 KCNJ2
49 ion transport GO:0006811 10.15 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
50 transmembrane transport GO:0055085 10.08 CACNA1C KCNH2 KCNQ1 RYR2 SCN5A

Molecular functions related to Long Qt Syndrome 6 according to GeneCards Suite gene sharing:

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.8 CACNA1C KCNQ1 RYR2 SCN5A
2 ion channel activity GO:0005216 9.76 CACNA1C KCNH2 RYR2 SCN5A
3 ion channel binding GO:0044325 9.72 ANK2 KCNE2 KCNQ1 RYR2 SCN5A
4 potassium channel activity GO:0005267 9.71 KCNE1 KCNE2 KCNH2 KCNQ1
5 scaffold protein binding GO:0097110 9.69 KCNH2 KCNQ1 SCN5A
6 voltage-gated potassium channel activity GO:0005249 9.67 KCNE1 KCNE2 KCNH2 KCNQ1
7 potassium channel regulator activity GO:0015459 9.65 KCNE1 KCNE2 SGK1
8 voltage-gated ion channel activity GO:0005244 9.63 CACNA1C KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
9 inward rectifier potassium channel activity GO:0005242 9.61 KCNE2 KCNH2 KCNJ2
10 delayed rectifier potassium channel activity GO:0005251 9.56 KCNE1 KCNE2 KCNH2 KCNQ1
11 protein kinase A regulatory subunit binding GO:0034237 9.54 KCNQ1 RYR2
12 protein kinase A catalytic subunit binding GO:0034236 9.52 KCNQ1 RYR2
13 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.26 KCNE1 KCNE2 KCNH2 KCNQ1
14 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 8.92 KCNE1 KCNH2 KCNJ2 KCNQ1
15 protein binding GO:0005515 10.33 ANK2 CACNA1C CASQ2 GLE1 KCNE1 KCNE2

Sources for Long Qt Syndrome 6

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....