MCID: LNG044
MIFTS: 62

Long Qt Syndrome 1

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Long Qt Syndrome 1

MalaCards integrated aliases for Long Qt Syndrome 1:

Name: Long Qt Syndrome 1 54 12 50 24 71 29 14
Romano-Ward Syndrome 50 25 56 71 29 52 69
Lqt1 12 50 24 71
Ward-Romano Syndrome 50 25 71
Ventricular Fibrillation with Prolonged Qt Interval 12 50
Rws 25 71
Long Qt Syndrome 1, Acquired 54
Romano-Ward Long Qt Syndrome 56
Long Qt Syndrome-1 13
Lqt 1 24
Wrs 25

Characteristics:

Orphanet epidemiological data:

56
romano-ward syndrome
Inheritance: Autosomal dominant; Prevalence: 1-5/10000 (Europe); Age of onset: All ages;

OMIM:

54
Inheritance:
autosomal dominant

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


HPO:

32
long qt syndrome 1:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 192500
Disease Ontology 12 DOID:0110644
ICD10 33 I45.8
Orphanet 56 ORPHA101016
MESH via Orphanet 43 D029597
UMLS via Orphanet 70 C0035828
ICD10 via Orphanet 34 I45.8
MeSH 42 D029597

Summaries for Long Qt Syndrome 1

Genetics Home Reference : 25 Romano-Ward syndrome is a condition that causes a disruption of the heart's normal rhythm (arrhythmia). This disorder is a form of long QT syndrome, which is a heart condition that causes the heart (cardiac) muscle to take longer than usual to recharge between beats. The term "long QT" refers to a specific pattern of heart activity that is detected with an electrocardiogram (ECG or EKG), which is a test used to measure the electrical activity of the heart. In people with long QT syndrome, the part of the heartbeat known as the QT interval is abnormally long. Abnormalities in the time it takes to recharge the heart lead to abnormal heart rhythms.

MalaCards based summary : Long Qt Syndrome 1, also known as romano-ward syndrome, is related to jervell and lange-nielsen syndrome and scn5a-related romano ward syndrome, and has symptoms including syncope, sudden cardiac death and torsade de pointes. An important gene associated with Long Qt Syndrome 1 is KCNQ1 (Potassium Voltage-Gated Channel Subfamily Q Member 1), and among its related pathways/superpathways are Transmission across Chemical Synapses and G-Beta Gamma Signaling. The drugs Ibutilide and Progesterone have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and liver.

NIH Rare Diseases : 50 romano-ward syndrome is the most common form of inheritedlong qt syndrome. symptoms include arrhythmia, fainting, cardiac arrest, and sudden death. there are six different types of this syndrome, long qt 1 through 6. each type is caused by a change in a different gene. the most prevalent form of long qt syndrome is long qt type 1. long qt type 1 is caused by changes in the kcnq1 gene. romano-ward syndrome is inherited in an autosomal dominant fashion. last updated: 4/15/2011

UniProtKB/Swiss-Prot : 71 Long QT syndrome 1: 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.

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). A form of torsade de pointes in which the first beat has a short coupling interval has been described (613600). (192500)

Disease Ontology : 12 A long QT syndrome that has material basis in dominant inheritance of mutation in the KCNQ1 gene on chromosome 11p15.5-p15.4.

Related Diseases for Long Qt Syndrome 1

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

(show top 50) (show all 74)
id Related Disease Score Top Affiliating Genes
1 jervell and lange-nielsen syndrome 27.8 AKAP9 ANK2 CALM1 CALM2 CALM3 CAV3
2 scn5a-related romano ward syndrome 12.2
3 wolcott-rallison syndrome 11.6
4 ragweed sensitivity 11.0
5 cardiac conduction disease with or without dilated cardiomyopathy 10.9 KCNH2 KCNQ1 SCN5A
6 acute poisoning by drugs with membrane-stabilizing effect 10.9 KCNH2 KCNJ2 KCNQ1
7 subclavian steal syndrome 10.9 CALM1 CALM2 CALM3
8 long qt syndrome 15 10.9 CALM1 CALM2 CALM3
9 epidural spinal canal meningioma 10.9 CALM1 CALM2 CALM3
10 brugada syndrome 3 10.8 KCNE1 KCNH2 KCNQ1
11 heterotaxy, visceral, 8, autosomal 10.8 CALM1 CALM2 CALM3
12 hyperaldosteronism, familial, type iii 10.8 KCNH2 KCNJ5 KCNQ1 SCN5A
13 pseudohypoaldosteronism, type iic 10.8 CALM1 CALM2 CALM3
14 mononeuritis of lower limb 10.8 CALM1 CALM2 CALM3
15 pontiac fever 10.8 CALM1 CALM2 CALM3
16 regular astigmatism 10.8 CALM1 CALM2 CALM3
17 dumping syndrome 10.8 CALM1 CALM2 CALM3
18 bulimia nervosa, age of onset of weight loss in 10.8 CALM1 CALM2 CALM3
19 leber congenital amaurosis 2 10.8 CALM1 CALM2 CALM3
20 cardiomyopathy, hypertrophic, 18 10.8 AKAP9 CALM1 CALM2 CALM3
21 second-degree atrioventricular block 10.8 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
22 microvillus inclusion disease 10.8 KCNE2 KCNJ2 KCNJ5 SCN5A
23 alkhurma hemorrhagic fever 10.8 CALM1 CALM2 CALM3
24 lipodystrophy, familial partial, type 5 10.8 CAV3 KCNJ2 SCN5A SNTA1
25 long qt syndrome 13 10.7
26 long qt syndrome 12 10.7
27 long qt syndrome 6 10.7
28 long qt syndrome 5 10.7
29 torsade de pointes, short-coupled variant 10.7
30 long qt syndrome 9 10.7
31 long qt syndrome-3 10.7
32 long qt syndrome 2 10.7
33 cardiomyopathy, dilated, 1a 10.7 CALM1 CALM2 CALM3
34 partial of retinal vein occlusion 10.7 CALM1 CALM2 CALM3
35 mental retardation, autosomal dominant 11 10.7 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A SNTA1
36 brugada syndrome 1 10.7 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
37 plantar fasciitis 10.7 CALM1 CALM2 CALM3
38 endocardium disease 10.7 KCNE2 SCN5A
39 deafness, autosomal dominant 2a 10.7 CALM1 CALM2 CALM3 KCNQ1 KCNQ4
40 intellectual disability-cataracts-kyphosis syndrome 10.7 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
41 lymphocytic choriomeningitis 10.7 CALM1 CALM2 CALM3
42 cone dystrophy 10.6 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
43 chicken egg allergy 10.6 KCNQ1 RYR2 SCN5A SNTA1
44 postinfectious encephalomyelitis 10.6 KCNE3 KCNJ2
45 bleeding disorder, platelet-type, 15 10.6 ANK2 CALM1
46 hypochromic microcytic anemia 10.6 CALM1 CALM2 CALM3
47 vascular erectile tumor 10.6 CALM1 CAV3 KCNH2 KCNJ2 KCNQ1 SCN5A
48 prostate malignant phyllodes tumor 10.6 KCNE1 KCNH2 KCNJ2 KCNQ1 RYR2 SCN5A
49 atrial fibrillation, familial, 3 10.6 CAV3 KCNE1 KCNE2 KCNH2 KCNQ1 SCN4B
50 ventricular tachycardia, catecholaminergic polymorphic, 1 10.6 ANK2 KCNH2 KCNJ2 KCNQ1 RYR2 SCN5A

Graphical network of the top 20 diseases related to Long Qt Syndrome 1:



Diseases related to Long Qt Syndrome 1

Symptoms & Phenotypes for Long Qt Syndrome 1

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Ears:
normal hearing

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


Clinical features from OMIM:

192500

Human phenotypes related to Long Qt Syndrome 1:

32 (show all 6)
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
6 abnormality of the ear 32 HP:0000598

UMLS symptoms related to Long Qt Syndrome 1:


syncope

Drugs & Therapeutics for Long Qt Syndrome 1

Drugs for Long Qt Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 167)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ibutilide Approved Phase 4,Phase 2 122647-32-9, 122647-31-8 60753
2
Progesterone Approved, Vet_approved Phase 4,Phase 2 57-83-0 5994
3
Methyltestosterone Approved Phase 4 58-18-4 6010
4
Testosterone Approved, Investigational Phase 4 58-22-0 6013
5 Anti-Arrhythmia Agents Phase 4,Phase 2,Phase 1
6 Hormone Antagonists Phase 4,Phase 2
7 Hormones Phase 4,Phase 2
8 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2
9 Progestins Phase 4,Phase 2
10 Anabolic Agents Phase 4
11 Androgens Phase 4
12 Antineoplastic Agents, Hormonal Phase 4
13 Testosterone 17 beta-cypionate Phase 4
14
Testosterone enanthate Phase 4 315-37-7 9416
15 Testosterone undecanoate Phase 4
16
Estradiol Approved, Investigational, Vet_approved Phase 1 50-28-2 5757
17
Ethinyl Estradiol Approved Phase 1 57-63-6 5991
18
Moxifloxacin Approved, Investigational Phase 1 354812-41-2, 151096-09-2 152946
19
Norgestimate Approved Phase 1 35189-28-7 6540478
20
Dofetilide Approved Phase 1 115256-11-6 71329
21
chloroquine Approved, Vet_approved Phase 1 54-05-7 2719
22
Diltiazem Approved Phase 1 42399-41-7 39186
23
Lopinavir Approved Phase 1 192725-17-0 92727
24
Ranolazine Approved, Investigational Phase 1 142387-99-3, 95635-55-5 56959
25
Ritonavir Approved, Investigational Phase 1 155213-67-5 392622
26
Verapamil Approved Phase 1 52-53-9 2520
27
Cyproheptadine Approved Phase 1 129-03-3 2913
28
Histamine Approved, Investigational Phase 1 75614-87-8, 51-45-6 774
29
Sotalol Approved Phase 1 959-24-0, 3930-20-9 5253
30
Oxymetazoline Approved Phase 1 1491-59-4 4636
31
Phenylephrine Approved Phase 1 59-42-7 6041
32
Lidocaine Approved, Vet_approved Phase 1 137-58-6 3676
33
Mexiletine Approved Phase 1 31828-71-4 4178
34
Zinc Approved Phase 1 7440-66-6 32051 23994
35
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 1 437-38-7 3345
36
Guaifenesin Approved, Vet_approved Phase 1 93-14-1 3516
37
Methadone Approved Phase 1 76-99-3 4095
38
Morphine Approved, Investigational Phase 1 57-27-2 5288826
39
Erythromycin Approved, Vet_approved Phase 1 114-07-8 12560
40
Ondansetron Approved Phase 1 99614-02-5 4595
41
Dopamine Approved Phase 1 51-61-6, 62-31-7 681
42
Loxapine Approved Phase 1 1977-10-2 3964
43 Anti-Bacterial Agents Phase 1
44 Anti-Infective Agents Phase 1
45 Contraceptive Agents Phase 1
46 Contraceptives, Oral Phase 1
47 Contraceptives, Oral, Combined Phase 1
48 Estradiol 17 beta-cypionate Phase 1
49 Estradiol 3-benzoate Phase 1
50 Estradiol valerate Phase 1 979-32-8

Interventional clinical trials:

(show all 38)

id Name Status NCT ID Phase Drugs
1 Influence of Testosterone Administration on Drug-Induced QT Interval Prolongation and Torsades de Pointes Recruiting NCT02513940 Phase 4 Testosterone;Progesterone;Placebo;Ibutilide
2 Influence of Progesterone Administration on Drug-Induced QT Interval Lengthening Completed NCT01929083 Phase 2 Progesterone;Placebo;Ibutilide
3 Race Difference Moxifloxacin-induced QT Prolongation Between Healthy Chinese and Caucasian Volunteers Unknown status NCT02119091 Phase 1 Moxifloxacin
4 Effect of Oral GS-6615 on Dofetilide-Induced QT Prolongation, Safety, and Tolerability in Healthy Adults Completed NCT02365532 Phase 1 GS-6615;Placebo to match GS-6615;Placebo to match dofetilide;Dofetilide
5 Study of the Effect of GS-6615 in Subjects With LQT-3 Completed NCT01849003 Phase 1 GS-6615
6 Effect of Eleclazine on QT, Safety, and Tolerability in Adults With Long QT2 Syndrome Completed NCT02365506 Phase 1 Eleclazine;Placebo
7 Pharmacokinetics of Eleclazine in Adults With Normal and Impaired Hepatic Function Completed NCT02412098 Phase 1 Eleclazine
8 Pharmacokinetics of Eleclazine in Adults With Normal and Impaired Renal Function Completed NCT02441829 Phase 1 Eleclazine
9 CiPA Phase 1 ECG Biomarker Validation Study Completed NCT03070470 Phase 1 Ranolazine;Verapamil;Lopinavir / Ritonavir;Chloroquine;Placebo;Dofetilide and Diltiazem
10 Evaluation of Possible Effects on the QT/ QTc Interval of Rupatadine in Healthy Volunteers Completed NCT00199225 Phase 1 Rupatadine;moxifloxacin
11 Genetic Sources of Variability of the Adaptation of the Ventricular Repolarisation Completed NCT00773201 Phase 1 Sotalol 80 mg
12 A Phase 1 Study to Evaluate Effects of Sapropterin Dihydrochloride on QTc Intervals in Healthy Adult Subjects Completed NCT00789568 Phase 1 sapropterin dihydrochloride;Moxifloxacin
13 Study Evaluating the Effects of Multiple Oral Doses of ERB-041 on Cardiac Repolarization in Healthy Subjects Completed NCT00316459 Phase 1 ERB-041
14 Study To Evaluate The Effect Of A Multiple Oral Dose Of PF-00232798 On QT Intervals In Healthy Subjects Completed NCT01140425 Phase 1 PF-00232798;PF-00232798;Placebo;Moxifloxacin
15 Ability of Late Sodium or Calcium Current Block to Balance the ECG Effects of Potassium Current Block Completed NCT02308748 Phase 1 Dofetilide;Mexiletine;Lidocaine;Moxifloxacin;Diltiazem;Placebo
16 Food and Insulin Effect on QT/QTC Interval of ECG Completed NCT01642485 Phase 1 Moxifloxacin 400 mg fasted;Moxifloxacin 400 mg fed;Placebo
17 Methadone Pharmacokinetics and Cardiac Effects in Newborns Completed NCT00715988 Phase 1 Methadone HCl Inject 10 mg/ml (will require dilution);Methadone
18 Selections of Subjects With Important Changes in Their Cardiac Repolarization Parameters for the Procurement of Skin and Blood Samples Completed NCT01338441 Phase 1 Erythromycin;Placebo
19 To Investigate the Effect of Intravenous Ondansetron on Cardiac Conduction as Compared to Placebo and Moxifloxacin in Healthy Adult Subjects Completed NCT01449188 Phase 1 ondansetron;moxifloxacin
20 QT/QTc Study of 2 Doses of ADASUVE® Completed NCT01854710 Phase 1 ADASUVE 10 mg 2 doses 2 hours apart;Oral moxifloxacin 400 mg;Staccato Placebo 2 doses 2 hours apart;Placebo (for moxifloxacin)
21 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 ABBV-221
22 A Study to Investigate the Effect of Single Dose of AZD6094 (600 mg) on Cardiac Repolarization in Healthy Volunteers Recruiting NCT03258515 Phase 1 AZD6094 200 mg;Moxifloxacin
23 Prospective Analysis Of Cardiac Function In Cirrhotic Patients By Echocardiography And Its Correlation With Events Unknown status NCT01433848
24 Effect of Beta-blocker Therapy on QTc Response in Exercise and Recovery in Normal Subjects Completed NCT00588965 Placebo;Propranolol LA
25 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
26 Comparison Between Epinephrine and Exercise Test in QT Long Syndrome Patients Recruiting NCT01745666
27 Multicenter Evaluation of Children and Young Adults With Genotype Positive Long QT Syndrome Recruiting NCT01705925
28 The Canadian National Long QT Syndrome Registry Recruiting NCT02425189
29 Exercise in Genetic Cardiovascular Conditions Recruiting NCT02549664
30 Prospective Identification of Long QT Syndrome in Fetal Life Recruiting NCT02876380
31 Long QT and Hearing Loss Registry Recruiting NCT02082431
32 Hydroxyzine and Risk of Prolongation of QT Interval Recruiting NCT02814981
33 Safety of Local Dental Anesthesia in Patients With Cardiac Channelopathies Recruiting NCT03182777
34 Exploring Mechanisms and Morphology of QT Interval Prolongation Enrolling by invitation NCT03291145 Beta Blockers;Spironolactone
35 Effect of Grapefruit on QT Interval in Healthy Volunteers and Patients With Congenital Long QT Syndrome Not yet recruiting NCT02680080 Moxifloxacin
36 Fetal and Neonatal Magnetophysiology Suspended NCT01903564
37 Infant Medical Records: Case Report Proposal Terminated NCT00268060
38 Low-dose Epinephrine Infusion Tests in Adolescent and Pediatric Patients Terminated NCT00548886 Epinephrine

Search NIH Clinical Center for Long Qt Syndrome 1

Genetic Tests for Long Qt Syndrome 1

Genetic tests related to Long Qt Syndrome 1:

id Genetic test Affiliating Genes
1 Long Qt Syndrome 1 29 24 KCNQ1
2 Romano-Ward Syndrome 29

Anatomical Context for Long Qt Syndrome 1

MalaCards organs/tissues related to Long Qt Syndrome 1:

39
Heart, Testes, Liver, Skin

Publications for Long Qt Syndrome 1

Articles related to Long Qt Syndrome 1:

id Title Authors Year
1
A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report. ( 28595573 )
2017
2
Impaired ion channel function related to a common KCNQ1 mutation - implications for risk stratification in long QT syndrome 1. ( 23000022 )
2012
3
Bupivacaine destabilizes action potential duration in cellular and computational models of long QT syndrome 1. ( 22003215 )
2011
4
Nicorandil normalizes prolonged repolarisation in the first transgenic rabbit model with Long-QT syndrome 1 both in vitro and in vivo. ( 20959120 )
2011
5
Biophysical characterization of KCNQ1 P320 mutations linked to long QT syndrome 1. ( 19540844 )
2010
6
A dominant negative isoform of the long QT syndrome 1 gene product. ( 9506986 )
1998

Variations for Long Qt Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 1:

71 (show top 50) (show all 123)
id Symbol AA change Variation ID SNP ID
1 KCNQ1 p.Gly168Arg VAR_001516 rs179489
2 KCNQ1 p.Arg174Cys VAR_001517 rs199472696
3 KCNQ1 p.Ala178Pro VAR_001518 rs120074177
4 KCNQ1 p.Gly189Arg VAR_001519 rs104894252
5 KCNQ1 p.Arg190Gln VAR_001520 rs120074178
6 KCNQ1 p.Gly216Arg VAR_001521
7 KCNQ1 p.Val254Met VAR_001522 rs120074179
8 KCNQ1 p.Glu261Lys VAR_001523 rs199472722
9 KCNQ1 p.Gly269Asp VAR_001524 rs120074194
10 KCNQ1 p.Leu273Phe VAR_001525 rs120074180
11 KCNQ1 p.Ala300Thr VAR_001526 rs120074187
12 KCNQ1 p.Thr309Arg VAR_001529 rs199472743
13 KCNQ1 p.Thr312Ile VAR_001530 rs120074182
14 KCNQ1 p.Ile313Met VAR_001531 rs199472747
15 KCNQ1 p.Gly314Ser VAR_001532 rs120074184
16 KCNQ1 p.Tyr315Ser VAR_001533 rs74462309
17 KCNQ1 p.Asp317Asn VAR_001534 rs199472751
18 KCNQ1 p.Pro320Ala VAR_001535 rs199472753
19 KCNQ1 p.Gly325Arg VAR_001536 rs199472756
20 KCNQ1 p.Ala341Glu VAR_001538 rs12720459
21 KCNQ1 p.Ala341Val VAR_001539 rs12720459
22 KCNQ1 p.Leu342Phe VAR_001540 rs199472760
23 KCNQ1 p.Ala344Val VAR_001541 rs199472763
24 KCNQ1 p.Gly345Glu VAR_001542 rs120074183
25 KCNQ1 p.Arg366Pro VAR_001543 rs199473410
26 KCNQ1 p.Ala371Thr VAR_001544 rs199473412
27 KCNQ1 p.Arg555Cys VAR_001545 rs120074185
28 KCNQ1 p.Phe157Cys VAR_008124 rs199472690
29 KCNQ1 p.Tyr184Ser VAR_008125 rs199473397
30 KCNQ1 p.Gly345Arg VAR_008126 rs199473471
31 KCNQ1 p.Ser373Pro VAR_008127 rs199472766
32 KCNQ1 p.Trp392Arg VAR_008128 rs199472774
33 KCNQ1 p.Arg174His VAR_008939 rs199472697
34 KCNQ1 p.Asp242Asn VAR_008940 rs199472712
35 KCNQ1 p.Trp248Arg VAR_008942 rs199473459
36 KCNQ1 p.Leu250His VAR_008943 rs199472715
37 KCNQ1 p.Tyr281Cys VAR_008945 rs199472732
38 KCNQ1 p.Tyr315Cys VAR_008946 rs74462309
39 KCNQ1 p.Lys318Asn VAR_008947 rs199472752
40 KCNQ1 p.Arg366Trp VAR_008948 rs199473411
41 KCNQ1 p.Arg533Trp VAR_008949 rs199472793
42 KCNQ1 p.Arg539Trp VAR_008950 rs199472795
43 KCNQ1 p.Thr587Met VAR_008951 rs120074189
44 KCNQ1 p.Gly589Asp VAR_008952 rs120074190
45 KCNQ1 p.Arg591His VAR_008953 rs199472814
46 KCNQ1 p.Leu353Pro VAR_009180 rs199473403
47 KCNQ1 p.Ala525Thr VAR_009181 rs120074188
48 KCNQ1 p.Glu160Lys VAR_009919 rs199473453
49 KCNQ1 p.Ala178Thr VAR_009920 rs120074177
50 KCNQ1 p.Ala194Pro VAR_009922 rs199472699

ClinVar genetic disease variations for Long Qt Syndrome 1:

6 (show top 50) (show all 57)
id Gene Variation Type Significance SNP ID Assembly Location
1 KCNQ1 KCNQ1, 3-BP DEL deletion Pathogenic
2 KCNQ1 NM_000218.2(KCNQ1): c.532G> C (p.Ala178Pro) single nucleotide variant Pathogenic rs120074177 GRCh37 Chromosome 11, 2591912: 2591912
3 KCNQ1 NM_000218.2(KCNQ1): c.565G> A (p.Gly189Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104894252 GRCh37 Chromosome 11, 2591945: 2591945
4 KCNQ1 NM_000218.2(KCNQ1): c.916G> A (p.Gly306Arg) single nucleotide variant Pathogenic rs120074181 GRCh37 Chromosome 11, 2594211: 2594211
5 KCNQ1 NM_000218.2(KCNQ1): c.935C> T (p.Thr312Ile) single nucleotide variant Pathogenic rs120074182 GRCh37 Chromosome 11, 2604678: 2604678
6 KCNQ1 NM_000218.2(KCNQ1): c.569G> A (p.Arg190Gln) single nucleotide variant Pathogenic rs120074178 GRCh37 Chromosome 11, 2591949: 2591949
7 KCNQ1 NM_000218.2(KCNQ1): c.760G> A (p.Val254Met) single nucleotide variant Pathogenic/Likely pathogenic rs120074179 GRCh37 Chromosome 11, 2593319: 2593319
8 KCNQ1 NM_000218.2(KCNQ1): c.817C> T (p.Leu273Phe) single nucleotide variant Pathogenic rs120074180 GRCh37 Chromosome 11, 2594112: 2594112
9 KCNQ1 NM_000218.2(KCNQ1): c.1022C> A (p.Ala341Glu) single nucleotide variant Pathogenic rs12720459 GRCh37 Chromosome 11, 2604765: 2604765
10 KCNQ1 NM_000218.2(KCNQ1): c.1022C> T (p.Ala341Val) single nucleotide variant Pathogenic rs12720459 GRCh37 Chromosome 11, 2604765: 2604765
11 KCNQ1 NM_000218.2(KCNQ1): c.1034G> A (p.Gly345Glu) single nucleotide variant Pathogenic rs120074183 GRCh37 Chromosome 11, 2606443: 2606443
12 KCNQ1 NM_000218.2(KCNQ1): c.940G> A (p.Gly314Ser) single nucleotide variant Pathogenic rs120074184 GRCh37 Chromosome 11, 2604683: 2604683
13 KCNQ1 NM_000218.2(KCNQ1): c.1663C> T (p.Arg555Cys) single nucleotide variant Pathogenic rs120074185 GRCh37 Chromosome 11, 2797262: 2797262
14 KCNQ1 KCNQ1, 3-BP DEL, PHE339DEL deletion Pathogenic
15 KCNQ1 NM_000218.2(KCNQ1): c.211_219delGCCGCGCCC (p.Ala71_Pro73del) deletion Pathogenic rs587776555 GRCh38 Chromosome 11, 2445309: 2445317
16 KCNQ1 NM_000218.2(KCNQ1): c.922-1G> C single nucleotide variant Pathogenic rs387906290 GRCh37 Chromosome 11, 2604664: 2604664
17 KCNQ1 NM_000218.2(KCNQ1): c.1032G> A (p.Ala344=) single nucleotide variant Pathogenic rs1800171 GRCh37 Chromosome 11, 2604775: 2604775
18 KCNQ1 NM_000218.2(KCNQ1): c.1766G> A (p.Gly589Asp) single nucleotide variant Pathogenic rs120074190 GRCh37 Chromosome 11, 2799239: 2799239
19 KCNQ1 NM_000218.2(KCNQ1): c.350C> T (p.Pro117Leu) single nucleotide variant Pathogenic rs120074191 GRCh37 Chromosome 11, 2466678: 2466678
20 KCNQ1 NM_000218.2(KCNQ1): c.1747C> T (p.Arg583Cys) single nucleotide variant Pathogenic,risk factor rs17221854 GRCh37 Chromosome 11, 2799220: 2799220
21 KCNQ1 NM_000218.2(KCNQ1): c.805G> A (p.Gly269Ser) single nucleotide variant Pathogenic rs120074193 GRCh37 Chromosome 11, 2594100: 2594100
22 KCNQ1 NM_000218.2(KCNQ1): c.806G> A (p.Gly269Asp) single nucleotide variant Pathogenic rs120074194 GRCh37 Chromosome 11, 2594101: 2594101
23 SCN5A NM_198056.2(SCN5A): c.3308C> A (p.Ser1103Tyr) single nucleotide variant risk factor rs7626962 GRCh37 Chromosome 3, 38620907: 38620907
24 KCNE1 NM_000219.5(KCNE1): c.253G> A (p.Asp85Asn) single nucleotide variant risk factor rs1805128 GRCh37 Chromosome 21, 35821680: 35821680
25 KCNQ1 NM_000218.2(KCNQ1): c.613G> A (p.Val205Met) single nucleotide variant Pathogenic rs151344631 GRCh37 Chromosome 11, 2592563: 2592563
26 KCNQ1 NM_000218.2(KCNQ1): c.1096C> T (p.Arg366Trp) single nucleotide variant Pathogenic rs199473411 GRCh37 Chromosome 11, 2606505: 2606505
27 KCNQ1 NM_000218.2(KCNQ1): c.1637C> T (p.Ser546Leu) single nucleotide variant Pathogenic/Likely pathogenic rs199473480 GRCh37 Chromosome 11, 2797236: 2797236
28 KCNQ1 NM_000218.2(KCNQ1): c.1697C> T (p.Ser566Phe) single nucleotide variant Likely pathogenic rs199472804 GRCh37 Chromosome 11, 2798227: 2798227
29 KCNQ1 NM_000218.2(KCNQ1): c.1703G> C (p.Gly568Ala) single nucleotide variant Pathogenic rs199472806 GRCh37 Chromosome 11, 2798233: 2798233
30 KCNQ1 NM_000218.2(KCNQ1): c.1893dupC (p.Arg632Glnfs) duplication Pathogenic rs397508105 GRCh37 Chromosome 11, 2869095: 2869095
31 KCNQ1 NM_000218.2(KCNQ1): c.502G> A (p.Gly168Arg) single nucleotide variant Pathogenic rs179489 GRCh37 Chromosome 11, 2591882: 2591882
32 KCNQ1 NM_000218.2(KCNQ1): c.533delCinsGG (p.Ala178Glyfs) indel Pathogenic rs397508115 GRCh37 Chromosome 11, 2591913: 2591913
33 KCNQ1 NM_000218.2(KCNQ1): c.691C> T (p.Arg231Cys) single nucleotide variant Pathogenic/Likely pathogenic rs199473457 GRCh37 Chromosome 11, 2593250: 2593250
34 KCNQ1 NM_000218.2(KCNQ1): c.692G> A (p.Arg231His) single nucleotide variant Pathogenic rs199472709 GRCh37 Chromosome 11, 2593251: 2593251
35 KCNQ1 NM_000218.2(KCNQ1): c.824_826delTCT (p.Phe275del) deletion Pathogenic rs397508126 GRCh37 Chromosome 11, 2594119: 2594121
36 KCNQ1 NM_000218.2(KCNQ1): c.828_830delCTC (p.Ser277del) deletion Pathogenic rs397508127 GRCh37 Chromosome 11, 2594123: 2594125
37 CALM2 NM_001743.5(CALM2): c.293A> G (p.Asn98Ser) single nucleotide variant Pathogenic/Likely pathogenic rs398124647 GRCh37 Chromosome 2, 47388990: 47388990
38 CALM2 NM_001743.5(CALM2): c.293A> T (p.Asn98Ile) single nucleotide variant Pathogenic/Likely pathogenic rs398124647 GRCh37 Chromosome 2, 47388990: 47388990
39 CALM2 NM_001743.5(CALM2): c.396T> G (p.Asp132Glu) single nucleotide variant Pathogenic/Likely pathogenic rs398124648 GRCh37 Chromosome 2, 47388887: 47388887
40 CALM2 NM_001743.5(CALM2): c.400G> C (p.Asp134His) single nucleotide variant Pathogenic/Likely pathogenic rs398124650 GRCh37 Chromosome 2, 47388883: 47388883
41 CALM2 NM_001743.5(CALM2): c.407A> C (p.Gln136Pro) single nucleotide variant Pathogenic/Likely pathogenic rs398124649 GRCh37 Chromosome 2, 47388876: 47388876
42 KCNQ1 NM_000218.2(KCNQ1): c.364dupT (p.Cys122Leufs) duplication Pathogenic rs794728583 GRCh38 Chromosome 11, 2445462: 2445462
43 KCNQ1 NM_000218.2(KCNQ1): c.1762A> T (p.Ile588Phe) single nucleotide variant Pathogenic/Likely pathogenic rs794728536 GRCh37 Chromosome 11, 2799235: 2799235
44 KCNQ1 NM_000218.2(KCNQ1): c.443delA (p.Tyr148Leufs) deletion Pathogenic rs878854347 GRCh38 Chromosome 11, 2527984: 2527984
45 KCNQ1 NM_000218.2(KCNQ1): c.557G> A (p.Gly186Asp) single nucleotide variant Pathogenic rs794728568 GRCh38 Chromosome 11, 2570707: 2570707
46 KCNQ1 NM_000218.2(KCNQ1): c.758C> G (p.Ser253Cys) single nucleotide variant Pathogenic rs794728513 GRCh38 Chromosome 11, 2572087: 2572087
47 KCNQ1 NM_000218.2(KCNQ1): c.1051T> C (p.Phe351Leu) single nucleotide variant Pathogenic rs779383393 GRCh38 Chromosome 11, 2585230: 2585230
48 KCNQ1 NM_000218.2(KCNQ1): c.1480dupG (p.Glu494Glyfs) duplication Pathogenic rs878854349 GRCh38 Chromosome 11, 2662047: 2662047
49 KCNQ1 NM_000218.2(KCNQ1): c.1686-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs878854350 GRCh38 Chromosome 11, 2776984: 2776984
50 KCNQ1 NM_000218.2(KCNQ1): c.1733-1G> C single nucleotide variant Pathogenic rs878854348 GRCh38 Chromosome 11, 2777975: 2777975

Expression for Long Qt Syndrome 1

Search GEO for disease gene expression data for Long Qt Syndrome 1.

Pathways for Long Qt Syndrome 1

Pathways related to Long Qt Syndrome 1 according to GeneCards Suite gene sharing:

(show all 49)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.94 AKAP9 CALM1 CALM2 CALM3 KCNH2 KCNJ2
2
Show member pathways
12.89 CALM1 CALM2 CALM3 KCNJ5 SCN4B SCN5A
3
Show member pathways
12.83 CALM1 CALM2 CALM3 KCNE1 KCNJ2 KCNJ5
4
Show member pathways
12.83 AKAP9 CALM1 CALM2 CALM3 CAV3 KCNE1
5
Show member pathways
12.72 CALM1 CALM2 CALM3 KCNJ2 KCNJ5 KCNQ1
6
Show member pathways
12.52 CALM1 CALM2 CALM3 KCNJ5 RYR2
7
Show member pathways
12.39 CALM1 CALM2 CALM3 RYR2
8 12.29 AKAP9 CALM1 CALM2 CALM3 KCNE1 KCNE2
9
Show member pathways
12.27 CALM1 CALM2 CALM3 RYR2
10
Show member pathways
12.23 CALM1 CALM2 CALM3 RYR2
11
Show member pathways
12.21 AKAP9 CALM1 CALM2 CALM3
12
Show member pathways
12.15 CALM1 CALM2 CALM3 KCNE2 KCNJ2 KCNQ1
13 12.14 CAV3 KCNH2 KCNQ1 NOS1AP RYR2 SCN4B
14 12.09 CALM1 CALM2 CALM3 CAV3
15
Show member pathways
12.08 KCNH2 KCNJ2 KCNJ5 KCNQ1 KCNQ4
16 12.07 CALM1 CALM2 CALM3 RYR2
17
Show member pathways
11.91 CALM1 CALM2 CALM3
18 11.89 CALM1 CALM2 CALM3
19 11.89 CALM1 CALM2 CALM3
20
Show member pathways
11.86 CALM1 CALM2 CALM3
21
Show member pathways
11.84 CALM1 CALM2 CALM3
22
Show member pathways
11.83 CALM1 CALM2 CALM3
23
Show member pathways
11.83 CALM1 CALM2 CALM3
24
Show member pathways
11.76 CALM1 CALM2 CALM3
25
Show member pathways
11.75 CALM1 CALM2 CALM3
26
Show member pathways
11.74 CALM1 CALM2 CALM3
27 11.74 CALM1 CALM2 CALM3
28 11.72 CALM1 CALM2 CALM3
29
Show member pathways
11.67 CALM1 CALM2 CALM3
30 11.65 CALM1 CALM2 CALM3 KCNJ2
31 11.63 CALM1 CALM2 CALM3
32
Show member pathways
11.62 CALM1 CALM2 CALM3
33 11.53 CALM1 CALM2 CALM3
34 11.44 ANK2 KCNE1 KCNE2 KCNE3 KCNH2 KCNJ2
35 11.36 CALM1 CALM2 CALM3
36 11.35 CALM1 CALM2 CALM3 CAV3
37 11.34 CALM1 CALM2 CALM3
38 11.31 CALM1 CALM2 CALM3
39 11.27 CALM1 CALM2 CALM3
40 11.25 ANK2 SCN4B SCN5A
41 11.24 CALM1 CALM2 CALM3 NOS1AP
42 11.23 CALM1 CALM2 CALM3
43 11.22 CALM1 CALM2 CALM3
44
Show member pathways
11.2 AKAP9 CALM1 CALM2 CALM3 KCNE1 KCNE2
45 11.09 CALM1 CALM2 CALM3
46 11.02 CALM1 CALM2 CALM3
47 11.01 CALM1 CALM2 CALM3
48 11 KCNE1 KCNJ2 KCNQ1
49 10.81 CALM1 CALM2 CALM3

GO Terms for Long Qt Syndrome 1

Cellular components related to Long Qt Syndrome 1 according to GeneCards Suite gene sharing:

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.92 CAV3 KCNE1 KCNE2 KCNH2 SCN5A
2 membrane raft GO:0045121 9.83 ANK2 CAV3 KCNE1 KCNE3 KCNQ1
3 sarcolemma GO:0042383 9.77 ANK2 CAV3 NOS1AP SCN5A SNTA1
4 Z disc GO:0030018 9.73 ANK2 CAV3 KCNE1 NOS1AP RYR2 SCN5A
5 sarcomere GO:0030017 9.71 CALM1 CALM2 CALM3 RYR2
6 caveola GO:0005901 9.67 CAV3 NOS1AP SCN5A
7 calcium channel complex GO:0034704 9.62 CALM1 CALM2 CALM3 RYR2
8 intercalated disc GO:0014704 9.55 ANK2 CAV3 KCNJ2 SCN4B SCN5A
9 voltage-gated sodium channel complex GO:0001518 9.51 SCN4B SCN5A
10 T-tubule GO:0030315 9.43 ANK2 CAV3 KCNJ2 KCNJ5 NOS1AP SCN5A
11 voltage-gated potassium channel complex GO:0008076 9.28 AKAP9 KCNE1 KCNE2 KCNE3 KCNH2 KCNJ2
12 inward rectifier potassium channel complex GO:1902937 9.18 NOS1AP
13 plasma membrane GO:0005886 10.3 ANK2 CAV3 KCNE1 KCNE2 KCNE3 KCNH2

Biological processes related to Long Qt Syndrome 1 according to GeneCards Suite gene sharing:

(show top 50) (show all 66)
id Name GO ID Score Top Affiliating Genes
1 cardiac muscle contraction GO:0060048 9.99 KCNH2 KCNQ1 RYR2 SCN4B SCN5A
2 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.95 ANK2 CALM1 CALM2 CALM3 RYR2
3 cardiac conduction GO:0061337 9.95 AKAP9 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
4 cardiac muscle cell action potential involved in contraction GO:0086002 9.93 KCNE1 KCNE2 KCNJ2 SCN4B SCN5A
5 positive regulation of potassium ion transmembrane transport GO:1901381 9.92 KCNE1 KCNH2 KCNJ2 KCNQ1 NOS1AP
6 cellular response to drug GO:0035690 9.91 KCNE2 KCNH2 KCNQ1
7 regulation of cardiac muscle contraction GO:0055117 9.91 ANK2 CALM1 CALM2 CALM3 CAV3 RYR2
8 response to calcium ion GO:0051592 9.9 CALM1 CALM2 CALM3
9 detection of calcium ion GO:0005513 9.9 CALM1 CALM2 CALM3 RYR2
10 cellular response to cAMP GO:0071320 9.89 AKAP9 KCNE1 KCNQ1
11 regulation of membrane repolarization GO:0060306 9.89 AKAP9 KCNE2 KCNH2 KCNJ2 KCNQ1
12 positive regulation of protein serine/threonine kinase activity GO:0071902 9.88 CALM1 CALM2 CALM3
13 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.88 KCNE1 KCNH2 KCNJ2 KCNQ1
14 potassium ion export GO:0071435 9.87 KCNE1 KCNE2 KCNH2 KCNQ1
15 positive regulation of peptidyl-threonine phosphorylation GO:0010800 9.86 CALM1 CALM2 CALM3
16 potassium ion import GO:0010107 9.85 KCNE2 KCNJ2 KCNJ5
17 positive regulation of protein dephosphorylation GO:0035307 9.85 CALM1 CALM2 CALM3
18 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.85 CALM1 CALM2 CALM3
19 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.85 KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
20 regulation of ion transmembrane transport GO:0034765 9.85 KCNE1 KCNE2 KCNE3 KCNH2 KCNJ2 KCNJ5
21 positive regulation of protein autophosphorylation GO:0031954 9.84 CALM1 CALM2 CALM3
22 regulation of potassium ion transmembrane transport GO:1901379 9.84 KCNE1 KCNE2 KCNH2
23 negative regulation of peptidyl-threonine phosphorylation GO:0010801 9.83 CALM1 CALM2 CALM3
24 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.83 CALM1 CALM2 CALM3
25 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.83 CALM1 CALM2 CALM3
26 regulation of cardiac muscle cell contraction GO:0086004 9.82 ANK2 KCNJ2 SCN5A
27 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.82 KCNJ2 SCN4B SCN5A
28 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.81 KCNE1 KCNE2 KCNE3
29 atrial cardiac muscle cell action potential GO:0086014 9.81 ANK2 KCNQ1 SCN5A
30 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 9.8 CALM1 CALM2 CALM3
31 regulation of cell communication by electrical coupling involved in cardiac conduction GO:1901844 9.8 CALM1 CALM2 CALM3
32 positive regulation of cyclic-nucleotide phosphodiesterase activity GO:0051343 9.79 CALM1 CALM2 CALM3
33 positive regulation of cyclic nucleotide metabolic process GO:0030801 9.78 CALM1 CALM2 CALM3
34 membrane repolarization during action potential GO:0086011 9.77 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
35 membrane repolarization GO:0086009 9.76 KCNE1 KCNE2 KCNQ1
36 positive regulation of sodium ion transport GO:0010765 9.74 SCN4B SCN5A
37 cellular response to epinephrine stimulus GO:0071872 9.73 KCNQ1 RYR2
38 negative regulation of potassium ion transmembrane transport GO:1901380 9.73 CAV3 KCNH2
39 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.73 CAV3 SCN5A
40 regulation of sodium ion transmembrane transport GO:1902305 9.73 SCN5A SNTA1
41 regulation of cardiac muscle cell action potential involved in regulation of contraction GO:0098909 9.73 AKAP9 CAV3
42 regulation of cardiac muscle contraction by calcium ion signaling GO:0010882 9.72 ANK2 RYR2
43 regulation of delayed rectifier potassium channel activity GO:1902259 9.72 KCNE1 KCNE2
44 positive regulation of potassium ion transmembrane transporter activity GO:1901018 9.72 AKAP9 ANK2
45 SA node cell action potential GO:0086015 9.72 ANK2 SCN5A
46 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.71 KCNQ1 SCN5A
47 membrane depolarization during SA node cell action potential GO:0086046 9.71 ANK2 SCN5A
48 sarcoplasmic reticulum calcium ion transport GO:0070296 9.71 ANK2 RYR2
49 membrane repolarization during atrial cardiac muscle cell action potential GO:0098914 9.71 KCNJ5 KCNQ1
50 negative regulation of voltage-gated potassium channel activity GO:1903817 9.7 KCNE2 KCNE3

Molecular functions related to Long Qt Syndrome 1 according to GeneCards Suite gene sharing:

(show all 23)
id Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.9 KCNQ1 RYR2 SCN5A SNTA1
2 potassium channel activity GO:0005267 9.85 KCNE1 KCNE2 KCNE3 KCNH2 KCNQ1 KCNQ4
3 potassium channel regulator activity GO:0015459 9.81 AKAP9 KCNE1 KCNE2 KCNE3
4 voltage-gated potassium channel activity GO:0005249 9.8 KCNE1 KCNE2 KCNE3 KCNH2 KCNQ1 KCNQ4
5 scaffold protein binding GO:0097110 9.77 KCNH2 KCNQ1 SCN5A
6 delayed rectifier potassium channel activity GO:0005251 9.76 KCNE1 KCNE2 KCNH2 KCNQ1
7 voltage-gated ion channel activity GO:0005244 9.76 KCNE2 KCNH2 KCNJ2 KCNJ5 KCNQ1 KCNQ4
8 sodium channel regulator activity GO:0017080 9.73 CAV3 SCN4B SNTA1
9 inward rectifier potassium channel activity GO:0005242 9.73 KCNE2 KCNH2 KCNJ2 KCNJ5
10 protein serine/threonine kinase activator activity GO:0043539 9.72 CALM1 CALM2 CALM3
11 protein kinase A regulatory subunit binding GO:0034237 9.71 AKAP9 KCNQ1 RYR2
12 nitric-oxide synthase binding GO:0050998 9.71 CAV3 NOS1AP SCN5A SNTA1
13 titin binding GO:0031432 9.7 CALM1 CALM2 CALM3
14 protein phosphatase activator activity GO:0072542 9.65 CALM1 CALM2 CALM3
15 protein kinase A catalytic subunit binding GO:0034236 9.61 KCNQ1 RYR2
16 G-protein activated inward rectifier potassium channel activity GO:0015467 9.61 KCNJ2 KCNJ5
17 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.58 SCN4B SCN5A
18 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization GO:0086089 9.58 KCNJ5 KCNQ1
19 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.56 KCNE1 KCNH2 KCNJ2 KCNQ1
20 ion channel binding GO:0044325 9.44 AKAP9 ANK2 CALM1 CALM2 CALM3 CAV3
21 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.35 KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
22 protein binding GO:0005515 10.52 AKAP9 ANK2 CALM1 CALM2 CALM3 CAV3
23 protein kinase binding GO:0019901 10.04 ANK2 CALM1 CALM2 CALM3 RYR2 SCN5A

Sources for Long Qt Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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