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LQT1
MCID: LNG044
MIFTS: 64

Long Qt Syndrome 1 (LQT1)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Long Qt Syndrome 1

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MalaCards integrated aliases for Long Qt Syndrome 1:

Name: Long Qt Syndrome 1 58 12 54 76 30 6 15
Romano-Ward Syndrome 58 77 54 26 60 76 30 56 6 74
Ward-Romano Syndrome 58 54 26 76
Lqt1 58 12 54 76
Ventricular Fibrillation with Prolonged Qt Interval 58 12 54
Rws 58 26 76
Wrs 58 26
Long Qt Syndrome 1, Acquired, Susceptibility to 58
Acquired Susceptibility to Long Qt Syndrome 1 6
Long Qt Syndrome 1, Acquired 58
Romano-Ward Long Qt Syndrome 60
Qt Syndrome, Long, Type 1 ) 41
Ward-Romano Syndrome; Wrs 58
Romano-Ward Syndrome; Rws 58
Long Qt Syndrome Type 1 77
Long Qt Syndrome-1 13

Characteristics:

Orphanet epidemiological data:

60
romano-ward syndrome
Inheritance: Autosomal dominant; Prevalence: 1-5/10000 (Europe); Age of onset: All ages;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
long qt syndrome 1:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Cardiovascular diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 34 35


External Ids:

Disease Ontology 12 DOID:0110644
OMIM 58 192500
MeSH 45 D029597
ICD10 34 I45.8
MESH via Orphanet 46 D029597
ICD10 via Orphanet 35 I45.8
UMLS via Orphanet 75 C0035828
Orphanet 60 ORPHA101016
UMLS 74 C0035828
Sources

Summaries for Long Qt Syndrome 1

About this section
Genetics Home Reference : 26 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 long qt syndrome 3 and long qt syndrome 2, and has symptoms including syncope 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 Developmental Biology and Circadian entrainment. The drugs Mefloquine and Artemether have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and prostate, and related phenotypes are sudden cardiac death and prolonged qt interval

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.

NIH Rare Diseases : 54 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.

OMIM : 58 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)

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 Long QT syndrome (LQTS) is a condition which affects repolarization of the heart after a heartbeat. This... more...

Sources

Related Diseases for Long Qt Syndrome 1

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Diseases in the Long Qt Syndrome family:

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

Diseases related to Long Qt Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 124)
# Related Disease Score Top Affiliating Genes
1 long qt syndrome 3 32.5 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
2 long qt syndrome 2 32.2 AKAP9 ANK2 CAV3 KCNE1 KCNE2 KCNH2
3 long qt syndrome 13 32.2 KCNH2 KCNJ5 KCNQ1 SCN5A
4 long qt syndrome 9 32.1 CAV3 SCN5A SNTA1
5 long qt syndrome 6 32.0 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
6 long qt syndrome 12 32.0 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A SNTA1
7 long qt syndrome 5 31.7 AKAP9 ANK2 KCNE1 KCNE2 KCNH2 KCNJ5
8 syncope 31.3 KCNH2 KCNQ1 SCN5A
9 cardiac arrhythmia 30.7 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
10 cardiac arrest 30.2 AKAP9 ANK2 CALM1 CALM2 CALM3 DSP
11 familial atrial fibrillation 30.2 KCNE1 KCNE2 KCNH2 KCNQ1 KCNQ1OT1 SCN4B
12 atrial fibrillation 30.1 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN4B
13 catecholaminergic polymorphic ventricular tachycardia 30.1 ANK2 CALM1 CALM2 CALM3 DSP KCNH2
14 jervell and lange-nielsen syndrome 1 30.0 CAV3 KCNE1 KCNE2 KCNH2 KCNQ1 SCN4B
15 long qt syndrome 29.3 AKAP9 ANK2 CALM1 CALM2 CALM3 CAV3
16 blood group--wright antigen 12.1
17 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 12.0
18 wiedemann-rautenstrauch syndrome 11.6
19 blood group, diego system 11.4
20 ragweed sensitivity 11.3
21 torsade de pointes, short-coupled variant 11.0
22 malaria 10.6
23 vaccinia 10.5
24 long qt syndrome 15 10.5 CALM1 CALM2 CALM3
25 otomycosis 10.5 CALM1 CALM2 CALM3
26 external ear disease 10.5 CALM1 CALM2 CALM3
27 emery-dreifuss muscular dystrophy 5, autosomal dominant 10.4 CALM1 CALM2 CALM3
28 timothy syndrome 10.4 KCNE1 KCNH2 KCNQ1
29 sporotrichosis 10.4 CALM1 CALM2 CALM3
30 brugada syndrome 1 10.4 AKAP9 KCNH2 SCN5A
31 otitis externa 10.4 CALM1 CALM2 CALM3
32 spontaneous ocular nystagmus 10.4 CALM1 CALM2 CALM3
33 deafness, autosomal recessive 44 10.4 CALM1 CALM2 CALM3
34 acute dacryocystitis 10.4 CALM1 CALM2 CALM3
35 dystonia 24 10.4 CALM1 CALM2 CALM3
36 cardiac conduction defect 10.4 DSP KCNH2 KCNQ1 SCN5A
37 gestational choriocarcinoma 10.4 CALM1 CALM2 CALM3
38 triosephosphate isomerase deficiency 10.4 CALM1 CALM2 CALM3
39 heart conduction disease 10.4 KCNE1 KCNH2 KCNQ1 SCN5A
40 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.4 DSP PKP2
41 leber congenital amaurosis 2 10.4 CALM1 CALM2 CALM3
42 tinea unguium 10.4 CALM1 CALM2 CALM3
43 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.4 DSP PKP2
44 deafness, autosomal dominant 2a 10.4 CALM1 CALM2 CALM3 KCNQ1
45 primary systemic mycosis 10.4 CALM1 CALM2 CALM3
46 clear cell acanthoma 10.4 CALM1 CALM2 CALM3
47 cardiomyopathy, dilated, 1a 10.4 CALM1 CALM2 CALM3
48 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.4 DSP PKP2
49 long qt syndrome 14 10.4 ANK2 CALM1
50 phaeohyphomycosis 10.4 CALM1 CALM2 CALM3

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



Diseases related to Long Qt Syndrome 1
Sources

Symptoms & Phenotypes for Long Qt Syndrome 1

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Human phenotypes related to Long Qt Syndrome 1:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 33 HP:0001645
2 prolonged qt interval 33 HP:0001657
3 syncope 33 HP:0001279
4 ventricular fibrillation 33 HP:0001663
5 abnormality of the ear 33 HP:0000598
6 torsade de pointes 33 HP:0001664

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
sudden cardiac death
syncope
ventricular fibrillation
prolonged qt interval on ekg
torsade de pointes

Head And Neck Ears:
normal hearing

Clinical features from OMIM:

192500

UMLS symptoms related to Long Qt Syndrome 1:


syncope

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.17 AKAP9 CALM1 CALM2 CALM3 CAV3 KCNJ5

MGI Mouse Phenotypes related to Long Qt Syndrome 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.23 CAV3 DSP KCNH2 KCNQ1 PKP2 SCN5A
Sources

Drugs & Therapeutics for Long Qt Syndrome 1

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

(show top 50) (show all 61)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mefloquine Approved, Investigational Phase 3 53230-10-7 4046
2
Artemether Approved Phase 3 71963-77-4 68911 119380
3
Artesunate Approved, Investigational Phase 3 88495-63-0 5464098 6917864
4
Amodiaquine Approved, Investigational Phase 3 86-42-0 2165
5
Lumefantrine Approved Phase 3 82186-77-4 6437380
6
Piperaquine Experimental, Investigational Phase 3 4085-31-8 5079497
7 Antiviral Agents Phase 3
8 Artemisinins Phase 3
9 Artemisinine Phase 3
10 Antiparasitic Agents Phase 3
11 Anti-Infective Agents Phase 3
12 Antimalarials Phase 3
13 Antiprotozoal Agents Phase 3
14 Artemether, Lumefantrine Drug Combination Phase 3
15 Anthelmintics Phase 3
16
Epinephrine Approved, Vet_approved Not Applicable 51-43-4 5816
17
Racepinephrine Approved Not Applicable 329-65-7 838
18
Spironolactone Approved Not Applicable 1952-01-7, 52-01-7 5833
19
Propranolol Approved, Investigational Not Applicable 525-66-6 4946
20
Citalopram Approved 59729-33-8 2771
21
Dopamine Approved 62-31-7, 51-61-6 681
22
carbamide peroxide Approved 124-43-6
23
Methylphenidate Approved, Investigational 113-45-1 4158
24
Calcium Approved, Nutraceutical 7440-70-2 271
25 Adrenergic beta-Agonists Not Applicable
26 Peripheral Nervous System Agents Not Applicable
27 Sympathomimetics Not Applicable
28 Adrenergic alpha-Agonists Not Applicable
29 Epinephryl borate Not Applicable
30 Respiratory System Agents Not Applicable
31 Adrenergic Agonists Not Applicable
32 Bronchodilator Agents Not Applicable
33 Vasoconstrictor Agents Not Applicable
34 Neurotransmitter Agents Not Applicable
35 Anti-Asthmatic Agents Not Applicable
36 Mydriatics Not Applicable
37 Adrenergic Agents Not Applicable
38 Autonomic Agents Not Applicable
39 Hormones, Hormone Substitutes, and Hormone Antagonists Not Applicable
40 Hormones Not Applicable
41 Natriuretic Agents Not Applicable
42 Mineralocorticoid Receptor Antagonists Not Applicable
43 Diuretics, Potassium Sparing Not Applicable
44 diuretics Not Applicable
45 Adrenergic Antagonists Not Applicable
46 Mineralocorticoids Not Applicable
47 Adrenergic beta-Antagonists Not Applicable
48 Hormone Antagonists Not Applicable
49 Antihypertensive Agents Not Applicable
50 Vasodilator Agents Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Trial to Compare the Efficacy, Safety and Tolerability of Combinations of 3 Anti-malarial Drugs Against Combinations of 2 Anti-malarial Drugs (Asia) Not yet recruiting NCT03939104 Phase 3 Artemether-lumefantrine+amodiaquine;Artemether-lumefantrine+placebo;Artesunate-piperaquine+mefloquine;Artesunate-piperaquine+placebo OR Artesunate-mefloquine
2 A Study by the Development of Triple Artemisinin Combination Therapies (DeTACT) Collaboration (Africa) Not yet recruiting NCT03923725 Phase 3 Artemether-lumefantrine+ Amodiaquine (AL+AQ);Artemether-lumefantrine + placebo (AL+PBO);Artesunate-piperaquine+mefloquine (AS-PPQ+MQ);Artesunate-piperaquine+placebo (AS-PPQ+PBO)
3 Comparison Between Epinephrine and Exercise Test in QT Long Syndrome Patients Unknown status NCT01745666 Not Applicable
4 Exploring Mechanisms and Morphology of QT Interval Prolongation Completed NCT03291145 Not Applicable Beta Blockers;Spironolactone
5 Effect of Beta-blocker Therapy on QTc Response in Exercise and Recovery in Normal Subjects Completed NCT00588965 Not Applicable Placebo;Propranolol LA
6 Multicenter Evaluation of Children and Young Adults With Genotype Positive Long QT Syndrome Completed NCT01705925
7 Prevalence of Congenital Long QT Syndrome and Acquired QT Prolongation in a Hospital Cohort Active, not recruiting NCT03544918
8 Drug-induced Repolarization ECG Changes Active, not recruiting NCT03642405

Search NIH Clinical Center for Long Qt Syndrome 1

Sources

Genetic Tests for Long Qt Syndrome 1

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Genetic tests related to Long Qt Syndrome 1:

# Genetic test Affiliating Genes
1 Long Qt Syndrome 1 30 KCNQ1
2 Romano-Ward Syndrome 30
Sources

Anatomical Context for Long Qt Syndrome 1

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MalaCards organs/tissues related to Long Qt Syndrome 1:

42
Heart, Testes, Prostate, Brain
Sources

Publications for Long Qt Syndrome 1

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Articles related to Long Qt Syndrome 1:

(show top 50) (show all 82)
# Title Authors Year
1
Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome. ( 30461122 )
2018
2
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
3
Contribution of a KCNH2 variant in genotyped long QT syndrome: Romano-Ward syndrome under double mutations and acquired long QT syndrome under heterozygote. ( 27816319 )
2017
4
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. ( 27854360 )
2017
5
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
6
Enhanced effects of isoflurane on the long QT syndrome 1-associated A341V mutant. ( 25585005 )
2015
7
Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome. ( 25705178 )
2015
8
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. ( 25356965 )
2015
9
AKAP9 is a genetic modifier of congenital long-QT syndrome type 1. ( 25087618 )
2014
10
The Romano-Ward syndrome--1964-2014: 50 years of progress. ( 24834591 )
2014
11
A KCNQ1 mutation causes a high penetrance for familial atrial fibrillation. ( 23350853 )
2013
12
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. ( 23788249 )
2013
13
Long QT genetics manifesting as atrial fibrillation. ( 23851063 )
2013
14
Impaired ion channel function related to a common KCNQ1 mutation - implications for risk stratification in long QT syndrome 1. ( 23000022 )
2012
15
Bupivacaine destabilizes action potential duration in cellular and computational models of long QT syndrome 1. ( 22003215 )
2011
16
Nicorandil normalizes prolonged repolarisation in the first transgenic rabbit model with Long-QT syndrome 1 both in vitro and in vivo. ( 20959120 )
2011
17
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). ( 21810866 )
2011
18
Patient-specific induced pluripotent stem-cell models for long-QT syndrome. ( 20660394 )
2010
19
Biophysical characterization of KCNQ1 P320 mutations linked to long QT syndrome 1. ( 19540844 )
2010
20
Prevalence of early-onset atrial fibrillation in congenital long QT syndrome. ( 18452873 )
2008
21
A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: a community-based approach to understanding the impact. ( 18580685 )
2008
22
The homozygous KCNQ1 gene mutation associated with recessive Romano-Ward syndrome. ( 16981927 )
2006
23
Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. ( 16414944 )
2005
24
Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population. ( 16246960 )
2005
25
Successful management of cesarean section in a patient with Romano-Ward syndrome using landiolol, a selective and short-acting beta1 receptor antagonist. ( 15875139 )
2005
26
Dominant-negative I(Ks) suppression by KCNQ1-deltaF339 potassium channels linked to Romano-Ward syndrome. ( 15950200 )
2005
27
Targeted point mutagenesis of mouse Kcnq1: phenotypic analysis of mice with point mutations that cause Romano-Ward syndrome in humans. ( 15498462 )
2004
28
Identification and characterisation of a novel KCNQ1 mutation in a family with Romano-Ward syndrome. ( 15511625 )
2004
29
Effective long-term control of cardiac events with beta-blockers in a family with a common LQT1 mutation. ( 14756674 )
2004
30
Truncated KCNQ1 mutant, A178fs/105, forms hetero-multimer channel with wild-type causing a dominant-negative suppression due to trafficking defect. ( 15358555 )
2004
31
Risk stratification in the long-QT syndrome. ( 12736279 )
2003
32
Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes. ( 11997281 )
2002
33
Mutation in KCNQ1 that has both recessive and dominant characteristics. ( 12205113 )
2002
34
A founder mutation of the potassium channel KCNQ1 in long QT syndrome: implications for estimation of disease prevalence and molecular diagnostics. ( 11216980 )
2001
35
Molecular diagnosis in a child with sudden infant death syndrome. ( 11684219 )
2001
36
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. ( 10973849 )
2000
37
C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence. ( 10086971 )
1999
38
Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome. ( 10024302 )
1999
39
Molecular diagnosis of the inherited long-QT syndrome in a woman who died after near-drowning. ( 10511610 )
1999
40
Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene. ( 10482963 )
1999
41
Effect of vaginal delivery on the Q-Tc interval in a patient with the long Q-T (Romano-Ward) syndrome. ( 10540527 )
1999
42
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. ( 10220144 )
1999
43
Splicing mutations in KCNQ1: a mutation hot spot at codon 344 that produces in frame transcripts. ( 10477533 )
1999
44
A novel mutation in KVLQT1 is the molecular basis of inherited long QT syndrome in a near-drowning patient's family. ( 9702906 )
1998
45
Novel donor splice site mutation in the KVLQT1 gene is associated with long QT syndrome. ( 9654228 )
1998
46
New mutations in the KVLQT1 potassium channel that cause long-QT syndrome. ( 9570196 )
1998
47
A dominant negative isoform of the long QT syndrome 1 gene product. ( 9506986 )
1998
48
KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome. ( 9386136 )
1997
49
KVLQT1 mutations in three families with familial or sporadic long QT syndrome. ( 8872472 )
1996
50
Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. ( 8528244 )
1996
Sources

Variations for Long Qt Syndrome 1

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

76 (show top 50) (show all 126)
# 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 1523)
# 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.532G> C (p.Ala178Pro) single nucleotide variant Pathogenic rs120074177 GRCh38 Chromosome 11, 2570682: 2570682
4 KCNQ1 NM_000218.2(KCNQ1): c.565G> A (p.Gly189Arg) single nucleotide variant Pathogenic rs104894252 GRCh37 Chromosome 11, 2591945: 2591945
5 KCNQ1 NM_000218.2(KCNQ1): c.565G> A (p.Gly189Arg) single nucleotide variant Pathogenic rs104894252 GRCh38 Chromosome 11, 2570715: 2570715
6 KCNQ1 NM_000218.2(KCNQ1): c.916G> A (p.Gly306Arg) single nucleotide variant Pathogenic rs120074181 GRCh37 Chromosome 11, 2594211: 2594211
7 KCNQ1 NM_000218.2(KCNQ1): c.916G> A (p.Gly306Arg) single nucleotide variant Pathogenic rs120074181 GRCh38 Chromosome 11, 2572981: 2572981
8 KCNQ1 NM_000218.2(KCNQ1): c.935C> T (p.Thr312Ile) single nucleotide variant Pathogenic rs120074182 GRCh37 Chromosome 11, 2604678: 2604678
9 KCNQ1 NM_000218.2(KCNQ1): c.935C> T (p.Thr312Ile) single nucleotide variant Pathogenic rs120074182 GRCh38 Chromosome 11, 2583448: 2583448
10 KCNQ1 NM_000218.2(KCNQ1): c.569G> A (p.Arg190Gln) single nucleotide variant Pathogenic rs120074178 GRCh37 Chromosome 11, 2591949: 2591949
11 KCNQ1 NM_000218.2(KCNQ1): c.569G> A (p.Arg190Gln) single nucleotide variant Pathogenic rs120074178 GRCh38 Chromosome 11, 2570719: 2570719
12 KCNQ1 NM_000218.2(KCNQ1): c.760G> A (p.Val254Met) single nucleotide variant Pathogenic rs120074179 GRCh37 Chromosome 11, 2593319: 2593319
13 KCNQ1 NM_000218.2(KCNQ1): c.760G> A (p.Val254Met) single nucleotide variant Pathogenic rs120074179 GRCh38 Chromosome 11, 2572089: 2572089
14 KCNQ1 NM_000218.2(KCNQ1): c.817C> T (p.Leu273Phe) single nucleotide variant Pathogenic rs120074180 GRCh37 Chromosome 11, 2594112: 2594112
15 KCNQ1 NM_000218.2(KCNQ1): c.817C> T (p.Leu273Phe) single nucleotide variant Pathogenic rs120074180 GRCh38 Chromosome 11, 2572882: 2572882
16 KCNQ1 NM_000218.2(KCNQ1): c.1022C> A (p.Ala341Glu) single nucleotide variant Pathogenic rs12720459 GRCh37 Chromosome 11, 2604765: 2604765
17 KCNQ1 NM_000218.2(KCNQ1): c.1022C> A (p.Ala341Glu) single nucleotide variant Pathogenic rs12720459 GRCh38 Chromosome 11, 2583535: 2583535
18 KCNQ1 NM_000218.2(KCNQ1): c.1022C> T (p.Ala341Val) single nucleotide variant Pathogenic rs12720459 GRCh37 Chromosome 11, 2604765: 2604765
19 KCNQ1 NM_000218.2(KCNQ1): c.1022C> T (p.Ala341Val) single nucleotide variant Pathogenic rs12720459 GRCh38 Chromosome 11, 2583535: 2583535
20 KCNQ1 NM_000218.2(KCNQ1): c.1034G> A (p.Gly345Glu) single nucleotide variant Pathogenic rs120074183 GRCh37 Chromosome 11, 2606443: 2606443
21 KCNQ1 NM_000218.2(KCNQ1): c.1034G> A (p.Gly345Glu) single nucleotide variant Pathogenic rs120074183 GRCh38 Chromosome 11, 2585213: 2585213
22 KCNQ1 NM_000218.2(KCNQ1): c.940G> A (p.Gly314Ser) single nucleotide variant Pathogenic rs120074184 GRCh37 Chromosome 11, 2604683: 2604683
23 KCNQ1 NM_000218.2(KCNQ1): c.940G> A (p.Gly314Ser) single nucleotide variant Pathogenic rs120074184 GRCh38 Chromosome 11, 2583453: 2583453
24 KCNQ1 NM_000218.2(KCNQ1): c.1663C> T (p.Arg555Cys) single nucleotide variant Pathogenic rs120074185 GRCh37 Chromosome 11, 2797262: 2797262
25 KCNQ1 NM_000218.2(KCNQ1): c.1663C> T (p.Arg555Cys) single nucleotide variant Pathogenic rs120074185 GRCh38 Chromosome 11, 2776032: 2776032
26 KCNQ1 NM_000218.2(KCNQ1): c.898G> A (p.Ala300Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs120074187 GRCh37 Chromosome 11, 2594193: 2594193
27 KCNQ1 NM_000218.2(KCNQ1): c.898G> A (p.Ala300Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs120074187 GRCh38 Chromosome 11, 2572963: 2572963
28 KCNQ1 NM_000218.2(KCNQ1): c.211_219delGCCGCGCCC (p.Ala71_Pro73del) deletion Uncertain significance rs397508107 GRCh38 Chromosome 11, 2445309: 2445317
29 KCNQ1 NM_000218.2(KCNQ1): c.211_219delGCCGCGCCC (p.Ala71_Pro73del) deletion Uncertain significance rs397508107 GRCh37 Chromosome 11, 2466539: 2466547
30 KCNQ1 NM_000218.2(KCNQ1): c.1552C> T (p.Arg518Ter) single nucleotide variant Pathogenic rs17215500 GRCh37 Chromosome 11, 2790111: 2790111
31 KCNQ1 NM_000218.2(KCNQ1): c.1552C> T (p.Arg518Ter) single nucleotide variant Pathogenic rs17215500 GRCh38 Chromosome 11, 2768881: 2768881
32 KCNQ1 NM_000218.2(KCNQ1): c.922-1G> C single nucleotide variant Pathogenic rs387906290 GRCh37 Chromosome 11, 2604664: 2604664
33 KCNQ1 NM_000218.2(KCNQ1): c.922-1G> C single nucleotide variant Pathogenic rs387906290 GRCh38 Chromosome 11, 2583434: 2583434
34 KCNQ1 NM_000218.2(KCNQ1): c.1032G> A (p.Ala344=) single nucleotide variant Pathogenic rs1800171 GRCh37 Chromosome 11, 2604775: 2604775
35 KCNQ1 NM_000218.2(KCNQ1): c.1032G> A (p.Ala344=) single nucleotide variant Pathogenic rs1800171 GRCh38 Chromosome 11, 2583545: 2583545
36 KCNQ1 NM_000218.2(KCNQ1): c.1766G> A (p.Gly589Asp) single nucleotide variant Pathogenic rs120074190 GRCh37 Chromosome 11, 2799239: 2799239
37 KCNQ1 NM_000218.2(KCNQ1): c.1766G> A (p.Gly589Asp) single nucleotide variant Pathogenic rs120074190 GRCh38 Chromosome 11, 2778009: 2778009
38 KCNQ1 NM_000218.2(KCNQ1): c.350C> T (p.Pro117Leu) single nucleotide variant Pathogenic rs120074191 GRCh37 Chromosome 11, 2466678: 2466678
39 KCNQ1 NM_000218.2(KCNQ1): c.350C> T (p.Pro117Leu) single nucleotide variant Pathogenic rs120074191 GRCh38 Chromosome 11, 2445448: 2445448
40 KCNQ1 NM_000218.2(KCNQ1): c.1747C> T (p.Arg583Cys) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs17221854 GRCh37 Chromosome 11, 2799220: 2799220
41 KCNQ1 NM_000218.2(KCNQ1): c.1747C> T (p.Arg583Cys) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs17221854 GRCh38 Chromosome 11, 2777990: 2777990
42 KCNQ1 NM_000218.2(KCNQ1): c.805G> A (p.Gly269Ser) single nucleotide variant Pathogenic rs120074193 GRCh37 Chromosome 11, 2594100: 2594100
43 KCNQ1 NM_000218.2(KCNQ1): c.805G> A (p.Gly269Ser) single nucleotide variant Pathogenic rs120074193 GRCh38 Chromosome 11, 2572870: 2572870
44 KCNQ1 NM_000218.2(KCNQ1): c.806G> A (p.Gly269Asp) single nucleotide variant Pathogenic rs120074194 GRCh37 Chromosome 11, 2594101: 2594101
45 KCNQ1 NM_000218.2(KCNQ1): c.806G> A (p.Gly269Asp) single nucleotide variant Pathogenic rs120074194 GRCh38 Chromosome 11, 2572871: 2572871
46 KCNJ5 NM_000890.3(KCNJ5): c.1159G> C (p.Gly387Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs199830292 GRCh37 Chromosome 11, 128786525: 128786525
47 KCNJ5 NM_000890.3(KCNJ5): c.1159G> C (p.Gly387Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs199830292 GRCh38 Chromosome 11, 128916630: 128916630
48 SCN5A NM_198056.2(SCN5A): c.5350G> A (p.Glu1784Lys) single nucleotide variant Pathogenic/Likely pathogenic rs137854601 GRCh37 Chromosome 3, 38592513: 38592513
49 SCN5A NM_198056.2(SCN5A): c.5350G> A (p.Glu1784Lys) single nucleotide variant Pathogenic/Likely pathogenic rs137854601 GRCh38 Chromosome 3, 38551022: 38551022
50 SCN5A NM_198056.2(SCN5A): c.3308C> A (p.Ser1103Tyr) single nucleotide variant risk factor rs7626962 GRCh37 Chromosome 3, 38620907: 38620907
Sources

Expression for Long Qt Syndrome 1

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

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

(show all 49)
# Super pathways Score Top Affiliating Genes
1
Developmental Biology 67
Show member pathways
 13.39 AKAP9 ANK2 CALM1 CALM2 CALM3 DSP
2
Circadian entrainment 38
Show member pathways
 12.99 CALM1 CALM2 CALM3 KCNJ5 KCNQ1 NOS1AP
3
G-Beta Gamma Signaling 65
Show member pathways
 12.98 CALM1 CALM2 CALM3 KCNJ5 SCN10A SCN4B
4
Transmission across Chemical Synapses 67
Show member pathways
 12.95 AKAP9 CALM1 CALM2 CALM3 KCNH2 KCNJ5
5
Aldosterone synthesis and secretion 38
Show member pathways
 12.84 CALM1 CALM2 CALM3 KCNE1 KCNJ5 KCNQ1
6
Cardiac conduction 67
Show member pathways
 12.7 AKAP9 CALM1 CALM2 CALM3 CAV3 KCNE1
7
Ion channel transport 67
Show member pathways
 12.49 CALM1 CALM2 CALM3 TRDN
8
Myometrial Relaxation and Contraction Pathways 1
Show member pathways
 12.48 CALM1 CALM2 CALM3 KCNJ5
9
DREAM Repression and Dynorphin Expression 65
Show member pathways
 12.44 CALM1 CALM2 CALM3 SNTA1
10
Dopamine-DARPP32 Feedback onto cAMP Pathway 65
12.27 AKAP9 CALM1 CALM2 CALM3 KCNE1 KCNE2
11
Post NMDA receptor activation events 67
Show member pathways
 12.2 AKAP9 CALM1 CALM2 CALM3
12
Salivary secretion 38
Show member pathways
 12.13 CALM1 CALM2 CALM3 KCNE2 KCNQ1
13
Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways 1
12.08 CAV3 KCNH2 KCNQ1 NOS1AP SCN4B SCN5A
14
Fluid shear stress and atherosclerosis 38
12.07 CALM1 CALM2 CALM3 CAV3
15
L1CAM interactions 67
Show member pathways
 12 ANK2 SCN10A SCN4B SCN5A
16
Amphetamine addiction 38
Show member pathways
 11.95 CALM1 CALM2 CALM3
17
Inositol phosphate metabolism 67
Show member pathways
 11.93 CALM1 CALM2 CALM3
18
Antigen activates B Cell Receptor (BCR) leading to generation of second messengers 67
Show member pathways
 11.89 CALM1 CALM2 CALM3
19
Glucagon signaling pathway 38
11.88 CALM1 CALM2 CALM3
20
ErbB1 downstream signaling 1
11.87 CALM1 CALM2 CALM3
21
Visual Cycle in Retinal Rods 65
11.85 CALM1 CALM2 CALM3
22
Development EPO-induced Jak-STAT pathway 23
Show member pathways
 11.84 CALM1 CALM2 CALM3
23
Signaling events mediated by VEGFR1 and VEGFR2 1
Show member pathways
 11.82 CALM1 CALM2 CALM3
24
Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling 23
Show member pathways
 11.81 CALM1 CALM2 CALM3
25
Uptake and actions of bacterial toxins 67
Show member pathways
 11.74 CALM1 CALM2 CALM3
26
Calcineurin-regulated NFAT-dependent transcription in lymphocytes 1
Show member pathways
 11.72 CALM1 CALM2 CALM3
27
Pertussis 38
11.72 CALM1 CALM2 CALM3
28
Signal transduction_Erk Interactions- Inhibition of Erk 23
11.7 CALM1 CALM2 CALM3
29
Renin secretion 38
11.67 CALM1 CALM2 CALM3
30
IL2 signaling events mediated by PI3K 1
Show member pathways
 11.66 CALM1 CALM2 CALM3
31
Translocation of GLUT4 to the plasma membrane 67
11.62 CALM1 CALM2 CALM3
32
Downstream signaling in naive CD8+ T cells 1
Show member pathways
 11.6 CALM1 CALM2 CALM3
33
Phase 0 - rapid depolarisation 67
Show member pathways
 11.53 AKAP9 CALM1 CALM2 CALM3 KCNE1 KCNE2
34
Role of Calcineurin-dependent NFAT signaling in lymphocytes 1
11.51 CALM1 CALM2 CALM3
35
Glycogen Metabolism 1
11.35 CALM1 CALM2 CALM3
36
Nur77 Signaling in T-Cell 65
11.33 CALM1 CALM2 CALM3
37
Smooth Muscle Contraction 67
11.31 CALM1 CALM2 CALM3 CAV3
38
N-cadherin signaling events 1
11.29 CALM1 CALM2 CALM3
39
Lissencephaly gene (LIS1) in neuronal migration and development 1
11.26 CALM1 CALM2 CALM3
40
Development_Thrombopoetin signaling via JAK-STAT pathway 23
11.24 CALM1 CALM2 CALM3
41
Insulin-mediated glucose transport 1
11.22 CALM1 CALM2 CALM3
42
p38 MAPK signaling pathway (Pathway Interaction Database) 1
11.21 CALM1 CALM2 CALM3
43
Interaction between L1 and Ankyrins 67
11.21 ANK2 SCN10A SCN4B SCN5A
44
nNOS Signaling at Neuronal Synapses 65
11.17 CALM1 CALM2 CALM3 NOS1AP
45
Cellular roles of Anthrax toxin 1
11.08 CALM1 CALM2 CALM3
46
Antiarrhythmic Pathway, Pharmacodynamics 62
11.02 ANK2 DSP KCNE1 KCNE2 KCNH2 KCNJ5
47
Protein methylation 67
10.99 CALM1 CALM2 CALM3
48
Regulation of cytoplasmic and nuclear SMAD2/3 signaling 1
10.98 CALM1 CALM2 CALM3
49
RHO GTPases activate IQGAPs 67
10.78 CALM1 CALM2 CALM3
Sources

GO Terms for Long Qt Syndrome 1

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.97 CAV3 KCNE1 KCNE2 KCNH2 SCN5A
2 membrane raft GO:0045121 9.85 ANK2 CAV3 KCNE1 KCNQ1
3 vesicle GO:0031982 9.81 CALM1 CALM2 CALM3 CAV3
4 Z disc GO:0030018 9.77 ANK2 CAV3 KCNE1 NOS1AP SCN5A
5 sarcolemma GO:0042383 9.72 ANK2 CAV3 NOS1AP SCN5A SNTA1
6 caveola GO:0005901 9.71 CAV3 NOS1AP SCN5A
7 sarcomere GO:0030017 9.7 CALM1 CALM2 CALM3
8 spindle microtubule GO:0005876 9.67 CALM1 CALM2 CALM3
9 calcium channel complex GO:0034704 9.63 CALM1 CALM2 CALM3
10 voltage-gated sodium channel complex GO:0001518 9.61 SCN10A SCN4B SCN5A
11 catalytic complex GO:1902494 9.58 CALM1 CALM2 CALM3
12 T-tubule GO:0030315 9.55 ANK2 CAV3 KCNJ5 NOS1AP SCN5A
13 inward rectifier potassium channel complex GO:1902937 9.48 KCNH2 NOS1AP
14 intercalated disc GO:0014704 9.43 ANK2 CAV3 DSP PKP2 SCN4B SCN5A
15 voltage-gated potassium channel complex GO:0008076 9.23 AKAP9 CALM2 CALM3 KCNE1 KCNE2 KCNH2
16 plasma membrane GO:0005886 10.19 ANK2 CALM1 CALM2 CALM3 CAV3 DSP
17 cytoskeleton GO:0005856 10.1 AKAP9 ANK2 CALM1 CALM2 CALM3 DSP

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

(show top 50) (show all 72)
# Name GO ID Score Top Affiliating Genes
1 potassium ion transmembrane transport GO:0071805 9.99 KCNE1 KCNE2 KCNH2 KCNQ1
2 ion transmembrane transport GO:0034220 9.99 KCNQ1 SCN10A SCN5A TRDN
3 muscle contraction GO:0006936 9.99 CALM1 CAV3 SNTA1 TRDN
4 regulation of ion transmembrane transport GO:0034765 9.97 KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1 SCN10A
5 calcium-mediated signaling GO:0019722 9.92 CALM1 CALM2 CALM3
6 cardiac muscle contraction GO:0060048 9.92 KCNH2 KCNQ1 SCN4B SCN5A
7 sodium ion transmembrane transport GO:0035725 9.9 SCN10A SCN4B SCN5A
8 cellular response to drug GO:0035690 9.9 KCNE2 KCNH2 KCNQ1
9 response to calcium ion GO:0051592 9.9 CALM1 CALM2 CALM3
10 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.9 AKAP9 ANK2 CAV3 KCNE1 KCNE2 KCNH2
11 cellular response to cAMP GO:0071320 9.89 AKAP9 KCNE1 KCNQ1
12 positive regulation of protein serine/threonine kinase activity GO:0071902 9.88 CALM1 CALM2 CALM3
13 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.88 ANK2 CALM1 CALM2 CALM3
14 substantia nigra development GO:0021762 9.87 CALM1 CALM2 CALM3
15 regulation of cytokinesis GO:0032465 9.87 CALM1 CALM2 CALM3
16 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.87 CALM1 CALM2 CALM3 TRDN
17 positive regulation of peptidyl-threonine phosphorylation GO:0010800 9.86 CALM1 CALM2 CALM3
18 positive regulation of protein dephosphorylation GO:0035307 9.85 CALM1 CALM2 CALM3
19 positive regulation of potassium ion transmembrane transport GO:1901381 9.85 KCNE1 KCNH2 KCNQ1 NOS1AP
20 positive regulation of protein autophosphorylation GO:0031954 9.84 CALM1 CALM2 CALM3
21 positive regulation of nitric-oxide synthase activity GO:0051000 9.84 CALM1 CALM3 NOS1AP
22 potassium ion export across plasma membrane GO:0097623 9.84 KCNE1 KCNE2 KCNH2 KCNQ1
23 regulation of potassium ion transmembrane transport GO:1901379 9.83 KCNE1 KCNE2 KCNH2
24 membrane depolarization during action potential GO:0086010 9.83 KCNH2 SCN10A SCN5A
25 negative regulation of peptidyl-threonine phosphorylation GO:0010801 9.83 CALM1 CALM2 CALM3
26 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.83 CALM1 CALM2 CALM3 TRDN
27 cardiac muscle cell action potential involved in contraction GO:0086002 9.83 KCNE1 KCNE2 PKP2 SCN4B SCN5A
28 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.82 CALM1 CALM2 CALM3
29 positive regulation of sodium ion transport GO:0010765 9.82 PKP2 SCN4B SCN5A
30 detection of calcium ion GO:0005513 9.81 CALM1 CALM2 CALM3
31 regulation of membrane repolarization GO:0060306 9.81 AKAP9 KCNE2 KCNH2 KCNQ1
32 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.8 KCNE1 KCNH2 KCNQ1
33 atrial cardiac muscle cell action potential GO:0086014 9.8 ANK2 KCNQ1 SCN5A
34 membrane repolarization GO:0086009 9.8 KCNE1 KCNE2 KCNH2 KCNQ1
35 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.8 KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
36 regulation of cardiac muscle contraction GO:0055117 9.8 ANK2 CALM1 CALM2 CALM3 CAV3 SCN10A
37 regulation of cell communication by electrical coupling involved in cardiac conduction GO:1901844 9.79 CALM1 CALM2 CALM3
38 regulation of high voltage-gated calcium channel activity GO:1901841 9.78 CALM1 CALM3 NOS1AP
39 membrane repolarization during action potential GO:0086011 9.78 KCNE1 KCNE2 KCNH2 KCNQ1
40 positive regulation of cyclic-nucleotide phosphodiesterase activity GO:0051343 9.77 CALM1 CALM2 CALM3
41 AV node cell action potential GO:0086016 9.76 SCN10A SCN4B SCN5A
42 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 9.76 CALM1 CALM2 CALM3 TRDN
43 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.75 CALM1 CALM3
44 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.74 KCNE1 KCNE2
45 regulation of release of sequestered calcium ion into cytosol GO:0051279 9.74 ANK2 TRDN
46 regulation of cardiac muscle cell contraction GO:0086004 9.74 ANK2 SCN5A
47 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.74 SCN4B SCN5A
48 regulation of synaptic vesicle endocytosis GO:1900242 9.74 CALM1 CALM3
49 establishment of protein localization to membrane GO:0090150 9.74 CALM1 CALM3
50 negative regulation of potassium ion transmembrane transport GO:1901380 9.73 CAV3 KCNH2

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

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 protein domain specific binding GO:0019904 9.96 CALM1 CALM2 CALM3 SCN5A
2 potassium channel activity GO:0005267 9.86 KCNE1 KCNE2 KCNH2 KCNQ1
3 voltage-gated potassium channel activity GO:0005249 9.84 KCNE1 KCNE2 KCNH2 KCNQ1
4 protein binding, bridging GO:0030674 9.82 ANK2 DSP TRDN
5 protein-containing complex scaffold activity GO:0032947 9.81 AKAP9 CAV3 PKP2
6 scaffold protein binding GO:0097110 9.8 DSP KCNH2 KCNQ1 SCN5A
7 voltage-gated ion channel activity GO:0005244 9.8 KCNE2 KCNH2 KCNJ5 KCNQ1 SCN10A SCN4B
8 potassium channel regulator activity GO:0015459 9.78 AKAP9 KCNE1 KCNE2
9 disordered domain specific binding GO:0097718 9.77 CALM1 CALM2 CALM3
10 sodium channel activity GO:0005272 9.77 SCN10A SCN4B SCN5A
11 protein serine/threonine kinase activator activity GO:0043539 9.76 CALM1 CALM2 CALM3
12 inward rectifier potassium channel activity GO:0005242 9.74 KCNE2 KCNH2 KCNJ5
13 delayed rectifier potassium channel activity GO:0005251 9.73 KCNE1 KCNE2 KCNH2 KCNQ1
14 voltage-gated sodium channel activity GO:0005248 9.72 SCN10A SCN4B SCN5A
15 sodium channel regulator activity GO:0017080 9.71 CAV3 PKP2 SCN4B SNTA1
16 titin binding GO:0031432 9.7 CALM1 CALM2 CALM3
17 adenylate cyclase binding GO:0008179 9.69 CALM1 CALM2 CALM3
18 calcium channel inhibitor activity GO:0019855 9.65 CALM1 CALM2
19 protein phosphatase activator activity GO:0072542 9.65 CALM1 CALM2 CALM3
20 nitric-oxide synthase regulator activity GO:0030235 9.64 CALM1 CALM3
21 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.63 KCNE1 KCNH2 KCNQ1
22 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.62 DSP PKP2
23 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.62 SCN4B SCN5A
24 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization GO:0086089 9.61 KCNJ5 KCNQ1
25 type 3 metabotropic glutamate receptor binding GO:0031800 9.58 CALM1 CALM3
26 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.55 KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
27 adenylate cyclase activator activity GO:0010856 9.54 CALM1 CALM2 CALM3
28 N-terminal myristoylation domain binding GO:0031997 9.5 CALM1 CALM2 CALM3
29 ion channel binding GO:0044325 9.5 AKAP9 ANK2 CALM1 CALM2 CALM3 CAV3
30 nitric-oxide synthase binding GO:0050998 9.43 CALM1 CALM3 CAV3 NOS1AP SCN5A SNTA1
31 protein binding GO:0005515 10.56 AKAP9 ANK2 CALM1 CALM2 CALM3 CAV3
32 protein kinase binding GO:0019901 10.04 ANK2 CALM1 CALM2 CALM3 SCN5A
Sources

Sources for Long Qt Syndrome 1

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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