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LQT1
MCID: LNG044
MIFTS: 62

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 57 12 53 75 29 6 15
Romano-Ward Syndrome 57 53 25 59 75 29 55 6 73
Ward-Romano Syndrome 57 53 25 75
Lqt1 57 12 53 75
Ventricular Fibrillation with Prolonged Qt Interval 57 12 53
Rws 57 25 75
Wrs 57 25
Long Qt Syndrome 1, Acquired, Susceptibility to 57
Acquired Susceptibility to Long Qt Syndrome 1 6
Long Qt Syndrome 1, Acquired 57
Romano-Ward Long Qt Syndrome 59
Qt Syndrome, Long, Type 1 ) 40
Ward-Romano Syndrome; Wrs 57
Romano-Ward Syndrome; Rws 57
Long Qt Syndrome Type 1 76
Romanoward Syndrome 76
Long Qt Syndrome-1 13

Characteristics:

Orphanet epidemiological data:

59
romano-ward syndrome
Inheritance: Autosomal dominant; Prevalence: 1-5/10000 (Europe); Age of onset: All ages;

OMIM:

57
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:

32
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: 33 34


External Ids:

OMIM 57 192500
Disease Ontology 12 DOID:0110644
ICD10 33 I45.8
Orphanet 59 ORPHA101016
UMLS via Orphanet 74 C0035828
MESH via Orphanet 45 D029597
ICD10 via Orphanet 34 I45.8
MeSH 44 D029597
UMLS 73 C0035828
Sources

Summaries for Long Qt Syndrome 1

About this section
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 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 Racepinephrine and Epinephrine 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 : 53 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 : 57 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 : 75 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 : 76 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 92)
# Related Disease Score Top Affiliating Genes
1 long qt syndrome 3 32.3 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
2 long qt syndrome 2 32.2 SNTA1 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
3 long qt syndrome 13 31.9 KCNH2 KCNJ5 KCNQ1 SCN5A
4 long qt syndrome 9 31.9 CAV3 SCN5A SNTA1
5 long qt syndrome 6 31.8 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
6 long qt syndrome 12 31.8 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A SNTA1
7 long qt syndrome 5 31.6 SCN5A KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
8 syncope 31.1 KCNH2 KCNQ1 SCN5A
9 cardiac arrhythmia 30.6 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
10 cardiac arrest 30.2 TRDN SCN5A KCNQ1 KCNH2 DSP CALM3
11 catecholaminergic polymorphic ventricular tachycardia 30.2 ANK2 CALM1 CALM2 CALM3 KCNH2 SCN5A
12 familial atrial fibrillation 30.1 KCNE1 KCNE2 KCNH2 KCNQ1 KCNQ1OT1 SCN4B
13 atrial fibrillation 30.1 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN4B
14 jervell and lange-nielsen syndrome 1 29.9 CAV3 KCNE1 KCNE2 KCNH2 KCNQ1 SCN4B
15 long qt syndrome 29.7 SNTA1 SCN5A SCN4B PKP2 NOS1AP KCNQ1OT1
16 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 12.0
17 blood group--wright antigen 11.7
18 progeroid syndrome, neonatal 11.4
19 blood group, diego system 11.4
20 ragweed sensitivity 11.3
21 torsade de pointes, short-coupled variant 11.0
22 long qt syndrome 15 10.3 CALM1 CALM2 CALM3
23 otomycosis 10.3 CALM1 CALM2 CALM3
24 external ear disease 10.3 CALM1 CALM2 CALM3
25 emery-dreifuss muscular dystrophy 5, autosomal dominant 10.3 CALM1 CALM2 CALM3
26 sporotrichosis 10.3 CALM1 CALM2 CALM3
27 brugada syndrome 1 10.3 AKAP9 KCNH2 SCN5A
28 timothy syndrome 10.3 KCNE1 KCNH2 KCNQ1
29 otitis externa 10.3 CALM1 CALM2 CALM3
30 spontaneous ocular nystagmus 10.3 CALM1 CALM2 CALM3
31 deafness, autosomal recessive 44 10.3 CALM1 CALM2 CALM3
32 acute dacryocystitis 10.3 CALM1 CALM2 CALM3
33 dystonia 24 10.3 CALM1 CALM2 CALM3
34 cardiac conduction defect 10.3 DSP KCNH2 KCNQ1 SCN5A
35 gestational choriocarcinoma 10.3 CALM1 CALM2 CALM3
36 triosephosphate isomerase deficiency 10.3 CALM1 CALM2 CALM3
37 heart conduction disease 10.3 KCNE1 KCNH2 KCNQ1 SCN5A
38 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.3 DSP PKP2
39 leber congenital amaurosis 2 10.3 CALM1 CALM2 CALM3
40 tinea unguium 10.3 CALM1 CALM2 CALM3
41 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.3 DSP PKP2
42 deafness, autosomal dominant 2a 10.3 CALM1 CALM2 CALM3 KCNQ1
43 primary systemic mycosis 10.3 CALM1 CALM2 CALM3
44 clear cell acanthoma 10.3 CALM1 CALM2 CALM3
45 cardiomyopathy, dilated, 1a 10.3 CALM1 CALM2 CALM3
46 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.2 DSP PKP2
47 long qt syndrome 14 10.2 ANK2 CALM1
48 phaeohyphomycosis 10.2 CALM1 CALM2 CALM3
49 cardiomyopathy, dilated, 1p 10.2 AKAP9 CALM1 CALM2 CALM3
50 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 10.2 CALM1 CALM2 CALM3

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



Diseases related to Long Qt Syndrome 1
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Symptoms & Phenotypes for Long Qt Syndrome 1

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Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Long Qt Syndrome 1:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 32 HP:0001645
2 prolonged qt interval 32 HP:0001657
3 syncope 32 HP:0001279
4 abnormality of the ear 32 HP:0000598
5 ventricular fibrillation 32 HP:0001663
6 torsade de pointes 32 HP:0001664

UMLS symptoms related to Long Qt Syndrome 1:


syncope

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

26
# 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:

46
# 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 all 44)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Racepinephrine Approved Not Applicable 329-65-7 838
2
Epinephrine Approved, Vet_approved Not Applicable 51-43-4 5816
3
Propranolol Approved, Investigational Not Applicable 525-66-6 4946
4
Citalopram Approved 59729-33-8 2771
5
Dopamine Approved 51-61-6, 62-31-7 681
6
Methylphenidate Approved, Investigational 113-45-1 4158
7
Spironolactone Approved Not Applicable 52-01-7, 1952-01-7 5833
8 Vasoconstrictor Agents Not Applicable
9 Adrenergic beta-Agonists Not Applicable
10 Adrenergic Agonists Not Applicable
11 Neurotransmitter Agents Not Applicable
12 Mydriatics Not Applicable
13 Epinephryl borate Not Applicable
14 Respiratory System Agents Not Applicable
15 Adrenergic alpha-Agonists Not Applicable
16 Autonomic Agents Not Applicable
17 Peripheral Nervous System Agents Not Applicable
18 Anti-Asthmatic Agents Not Applicable
19 Adrenergic Agents Not Applicable
20 Bronchodilator Agents Not Applicable
21 Sympathomimetics Not Applicable
22 Vasodilator Agents Not Applicable
23 Adrenergic Antagonists Not Applicable
24 Adrenergic beta-Antagonists Not Applicable
25 Anti-Arrhythmia Agents Not Applicable
26 Antihypertensive Agents Not Applicable
27 Aspartic Acid
28 Natriuretic Peptide, Brain
29 Antidepressive Agents
30 Calcium, Dietary
31 N-Methylaspartate
32 Dopamine Uptake Inhibitors
33 Dopamine Agents
34 Neurotransmitter Uptake Inhibitors
35 Central Nervous System Stimulants
36 alanine
37 Natriuretic Agents Not Applicable
38 Hormones Not Applicable
39 Diuretics, Potassium Sparing Not Applicable
40 Mineralocorticoids Not Applicable
41 Hormone Antagonists Not Applicable
42 Mineralocorticoid Receptor Antagonists Not Applicable
43 Hormones, Hormone Substitutes, and Hormone Antagonists Not Applicable
44 diuretics Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Comparison Between Epinephrine and Exercise Test in QT Long Syndrome Patients Unknown status NCT01745666 Not Applicable
2 Effect of Beta-blocker Therapy on QTc Response in Exercise and Recovery in Normal Subjects Completed NCT00588965 Not Applicable Placebo;Propranolol LA
3 Multicenter Evaluation of Children and Young Adults With Genotype Positive Long QT Syndrome Active, not recruiting NCT01705925
4 Prevalence of Congenital Long QT Syndrome and Acquired QT Prolongation in a Hospital Cohort Active, not recruiting NCT03544918
5 Drug-induced Repolarization ECG Changes Active, not recruiting NCT03642405
6 Exploring Mechanisms and Morphology of QT Interval Prolongation Enrolling by invitation NCT03291145 Not Applicable Beta Blockers;Spironolactone

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 29 KCNQ1
2 Romano-Ward Syndrome 29
Sources

Anatomical Context for Long Qt Syndrome 1

About this section

MalaCards organs/tissues related to Long Qt Syndrome 1:

41
Heart, Testes, Prostate
Sources

Publications for Long Qt Syndrome 1

About this section

Articles related to Long Qt Syndrome 1:

(show all 49)
# 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 )
2016
4
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
5
Enhanced Effects of Isoflurane on the Long QT Syndrome 1-associated A341V Mutant. ( 25585005 )
2015
6
Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome. ( 25705178 )
2015
7
The Romano-Ward syndrome--1964-2014: 50 years of progress. ( 24834591 )
2014
8
Impaired ion channel function related to a common KCNQ1 mutation - implications for risk stratification in long QT syndrome 1. ( 23000022 )
2012
9
Nicorandil normalizes prolonged repolarisation in the first transgenic rabbit model with Long-QT syndrome 1 both in vitro and in vivo. ( 20959120 )
2011
10
Bupivacaine destabilizes action potential duration in cellular and computational models of long QT syndrome 1. ( 22003215 )
2011
11
Biophysical characterization of KCNQ1 P320 mutations linked to long QT syndrome 1. ( 19540844 )
2010
12
The homozygous KCNQ1 gene mutation associated with recessive Romano-Ward syndrome. ( 16981927 )
2006
13
Successful management of cesarean section in a patient with Romano-Ward syndrome using landiolol, a selective and short-acting beta1 receptor antagonist. ( 15875139 )
2005
14
Dominant-negative I(Ks) suppression by KCNQ1-deltaF339 potassium channels linked to Romano-Ward syndrome. ( 15950200 )
2005
15
Targeted point mutagenesis of mouse Kcnq1: phenotypic analysis of mice with point mutations that cause Romano-Ward syndrome in humans. ( 15498462 )
2004
16
Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene. ( 10482963 )
1999
17
Effect of vaginal delivery on the Q-Tc interval in a patient with the long Q-T (Romano-Ward) syndrome. ( 10540527 )
1999
18
A dominant negative isoform of the long QT syndrome 1 gene product. ( 9506986 )
1998
19
Epidural anesthesia for cesarean section in a patient with Romano-Ward syndrome. ( 7542433 )
1995
20
Romano-Ward syndrome diagnosed as moderate fetal bradycardia. A case report. ( 8551477 )
1995
21
Genetic linkage analyses of Romano-Ward syndrome (RWS) in 13 Japanese families. ( 7927333 )
1994
22
Syncope and sudden arrhythmic death complicating pregnancy. A case report of Romano-Ward syndrome. ( 8098062 )
1993
23
Counselling pitfalls in Romano-Ward syndrome. ( 8230172 )
1993
24
Evidence of genetic and phenotypic heterogeneity in the Romano-Ward syndrome. ( 8301651 )
1993
25
Study of left and right ventricular function in Romano-Ward syndrome. ( 8398498 )
1993
26
Consanguinity, cardiac arrest, hearing impairment, and ECG abnormalities: counselling pitfalls in the Romano-Ward syndrome. ( 8487283 )
1993
27
The Romano-Ward syndrome: a case presenting as near drowning with a clinical review. ( 1408978 )
1992
28
QRST isointegral maps in patients with Romano-Ward syndrome. ( 1462927 )
1992
29
Sex differences in phenotypic manifestation and gene transmission in the Romano-Ward syndrome. ( 1562113 )
1992
30
Association of humps on monophasic action potentials and ST-T alternans in a patient with Romano-Ward syndrome. ( 1721131 )
1991
31
Romano-Ward syndrome: case report, family study and signal averaged electrocardiogram. ( 2225883 )
1990
32
Atrioventricular pacemaker placement in Romano-Ward syndrome and recurrent torsades de pointes. ( 3812233 )
1987
33
The QT prolongation syndrome: long-term follow-up study of 13 families with Romano-Ward syndrome. ( 3449505 )
1987
34
The heart rate of Romano-Ward syndrome patients. ( 3728288 )
1986
35
Romano-Ward syndrome in a Biblic/Talmudic family? ( 11613755 )
1986
36
Epilepsy: a presentation of the Romano-Ward syndrome. ( 6412876 )
1983
37
Pediatric problems: Romano-Ward syndrome. ( 6554167 )
1983
38
Heart rate pattern during sleep in an infant with congenital prolongation of the Q-T interval (Romano-Ward syndrome). ( 6872600 )
1983
39
[Sympathetic ganglionitis in the hereditary syndrome of QT prolongation (Romano-Ward syndrome); intracardiac registration of after-potentials (author's transl)]. ( 7075478 )
1982
40
A study of the inheritance pattern of Romano-Ward syndrome. Prolonged Q-T interval, syncope, and sudden death. ( 7055998 )
1982
41
Prolongation of the Q-T interval (Romano-Ward syndrome): anaesthetic management. ( 7317253 )
1981
42
Romano-Ward syndrome treated by left stellectomy and intracavitary stimulation. ( 7386360 )
1980
43
Autonomic maneuvers in hereditary Q-T interval prolongation (Romano-Ward syndrome). ( 345785 )
1978
44
The Romano-Ward syndrome. A case report. ( 266581 )
1977
45
The effects of stellate ganglion block on the idiopathic prolongation of the Q-T interval with cardiac arrhythmia (the Romano-Ward syndrome). ( 1033692 )
1976
46
Electrical alternans of TU wave in Romano-Ward syndrome. ( 973903 )
1976
47
QT prolongation and syncopal attacks. A case of the Romano-Ward syndrome. ( 1160193 )
1975
48
Heritable Q-T prolongation without congenital deafness (Romano-Ward syndrome). ( 4749386 )
1973
49
Syncope and Q-T prolongation without deafness: the Romano-Ward syndrome. ( 5477626 )
1970
Sources

Variations for Long Qt Syndrome 1

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

75 (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 1492)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNQ1 NM_000218.2(KCNQ1): c.922-1G> C single nucleotide variant Pathogenic rs387906290 GRCh38 Chromosome 11, 2583434: 2583434
2 KCNQ1 NM_000218.2(KCNQ1): c.1032G> A (p.Ala344=) single nucleotide variant Pathogenic rs1800171 GRCh37 Chromosome 11, 2604775: 2604775
3 KCNQ1 NM_000218.2(KCNQ1): c.922-1G> C single nucleotide variant Pathogenic rs387906290 GRCh37 Chromosome 11, 2604664: 2604664
4 KCNQ1 KCNQ1, 3-BP DEL deletion Pathogenic
5 KCNQ1 NM_000218.2(KCNQ1): c.532G> C (p.Ala178Pro) single nucleotide variant Pathogenic rs120074177 GRCh37 Chromosome 11, 2591912: 2591912
6 KCNQ1 NM_000218.2(KCNQ1): c.532G> C (p.Ala178Pro) single nucleotide variant Pathogenic rs120074177 GRCh38 Chromosome 11, 2570682: 2570682
7 KCNQ1 NM_000218.2(KCNQ1): c.565G> A (p.Gly189Arg) single nucleotide variant Likely pathogenic rs104894252 GRCh37 Chromosome 11, 2591945: 2591945
8 KCNQ1 NM_000218.2(KCNQ1): c.565G> A (p.Gly189Arg) single nucleotide variant Likely pathogenic rs104894252 GRCh38 Chromosome 11, 2570715: 2570715
9 KCNQ1 NM_000218.2(KCNQ1): c.916G> A (p.Gly306Arg) single nucleotide variant Pathogenic rs120074181 GRCh37 Chromosome 11, 2594211: 2594211
10 KCNQ1 NM_000218.2(KCNQ1): c.916G> A (p.Gly306Arg) single nucleotide variant Pathogenic rs120074181 GRCh38 Chromosome 11, 2572981: 2572981
11 KCNQ1 NM_000218.2(KCNQ1): c.935C> T (p.Thr312Ile) single nucleotide variant Pathogenic rs120074182 GRCh37 Chromosome 11, 2604678: 2604678
12 KCNQ1 NM_000218.2(KCNQ1): c.935C> T (p.Thr312Ile) single nucleotide variant Pathogenic rs120074182 GRCh38 Chromosome 11, 2583448: 2583448
13 KCNQ1 NM_000218.2(KCNQ1): c.569G> A (p.Arg190Gln) single nucleotide variant Pathogenic rs120074178 GRCh37 Chromosome 11, 2591949: 2591949
14 KCNQ1 NM_000218.2(KCNQ1): c.569G> A (p.Arg190Gln) single nucleotide variant Pathogenic rs120074178 GRCh38 Chromosome 11, 2570719: 2570719
15 KCNQ1 NM_000218.2(KCNQ1): c.760G> A (p.Val254Met) single nucleotide variant Pathogenic rs120074179 GRCh37 Chromosome 11, 2593319: 2593319
16 KCNQ1 NM_000218.2(KCNQ1): c.760G> A (p.Val254Met) single nucleotide variant Pathogenic rs120074179 GRCh38 Chromosome 11, 2572089: 2572089
17 KCNQ1 NM_000218.2(KCNQ1): c.817C> T (p.Leu273Phe) single nucleotide variant Pathogenic rs120074180 GRCh37 Chromosome 11, 2594112: 2594112
18 KCNQ1 NM_000218.2(KCNQ1): c.817C> T (p.Leu273Phe) single nucleotide variant Pathogenic rs120074180 GRCh38 Chromosome 11, 2572882: 2572882
19 KCNQ1 NM_000218.2(KCNQ1): c.1022C> A (p.Ala341Glu) single nucleotide variant Pathogenic rs12720459 GRCh37 Chromosome 11, 2604765: 2604765
20 KCNQ1 NM_000218.2(KCNQ1): c.1022C> A (p.Ala341Glu) single nucleotide variant Pathogenic rs12720459 GRCh38 Chromosome 11, 2583535: 2583535
21 KCNQ1 NM_000218.2(KCNQ1): c.1022C> T (p.Ala341Val) single nucleotide variant Pathogenic rs12720459 GRCh37 Chromosome 11, 2604765: 2604765
22 KCNQ1 NM_000218.2(KCNQ1): c.1022C> T (p.Ala341Val) single nucleotide variant Pathogenic rs12720459 GRCh38 Chromosome 11, 2583535: 2583535
23 KCNQ1 NM_000218.2(KCNQ1): c.1034G> A (p.Gly345Glu) single nucleotide variant Pathogenic rs120074183 GRCh37 Chromosome 11, 2606443: 2606443
24 KCNQ1 NM_000218.2(KCNQ1): c.1034G> A (p.Gly345Glu) single nucleotide variant Pathogenic rs120074183 GRCh38 Chromosome 11, 2585213: 2585213
25 KCNQ1 NM_000218.2(KCNQ1): c.940G> A (p.Gly314Ser) single nucleotide variant Pathogenic rs120074184 GRCh37 Chromosome 11, 2604683: 2604683
26 KCNQ1 NM_000218.2(KCNQ1): c.940G> A (p.Gly314Ser) single nucleotide variant Pathogenic rs120074184 GRCh38 Chromosome 11, 2583453: 2583453
27 KCNQ1 NM_000218.2(KCNQ1): c.1663C> T (p.Arg555Cys) single nucleotide variant Pathogenic rs120074185 GRCh37 Chromosome 11, 2797262: 2797262
28 KCNQ1 NM_000218.2(KCNQ1): c.1663C> T (p.Arg555Cys) single nucleotide variant Pathogenic rs120074185 GRCh38 Chromosome 11, 2776032: 2776032
29 KCNQ1 NM_000218.2(KCNQ1): c.898G> A (p.Ala300Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs120074187 GRCh37 Chromosome 11, 2594193: 2594193
30 KCNQ1 NM_000218.2(KCNQ1): c.898G> A (p.Ala300Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs120074187 GRCh38 Chromosome 11, 2572963: 2572963
31 KCNQ1 KCNQ1, 3-BP DEL, PHE339DEL deletion Pathogenic
32 KCNQ1 NM_000218.2(KCNQ1): c.211_219delGCCGCGCCC (p.Ala71_Pro73del) deletion Uncertain significance rs587776555 GRCh38 Chromosome 11, 2445309: 2445317
33 KCNQ1 NM_000218.2(KCNQ1): c.211_219delGCCGCGCCC (p.Ala71_Pro73del) deletion Uncertain significance rs587776555 GRCh37 Chromosome 11, 2466539: 2466547
34 KCNQ1 NM_000218.2(KCNQ1): c.1552C> T (p.Arg518Ter) single nucleotide variant Pathogenic rs17215500 GRCh37 Chromosome 11, 2790111: 2790111
35 KCNQ1 NM_000218.2(KCNQ1): c.1552C> T (p.Arg518Ter) single nucleotide variant Pathogenic rs17215500 GRCh38 Chromosome 11, 2768881: 2768881
36 KCNQ1 NM_000218.2(KCNQ1): c.1032G> A (p.Ala344=) single nucleotide variant Pathogenic rs1800171 GRCh38 Chromosome 11, 2583545: 2583545
37 KCNQ1 NM_000218.2(KCNQ1): c.1766G> A (p.Gly589Asp) single nucleotide variant Pathogenic rs120074190 GRCh37 Chromosome 11, 2799239: 2799239
38 KCNQ1 NM_000218.2(KCNQ1): c.1766G> A (p.Gly589Asp) single nucleotide variant Pathogenic rs120074190 GRCh38 Chromosome 11, 2778009: 2778009
39 KCNQ1 NM_000218.2(KCNQ1): c.350C> T (p.Pro117Leu) single nucleotide variant Pathogenic rs120074191 GRCh37 Chromosome 11, 2466678: 2466678
40 KCNQ1 NM_000218.2(KCNQ1): c.350C> T (p.Pro117Leu) single nucleotide variant Pathogenic rs120074191 GRCh38 Chromosome 11, 2445448: 2445448
41 KCNQ1 NM_000218.2(KCNQ1): c.1747C> T (p.Arg583Cys) single nucleotide variant Pathogenic rs17221854 GRCh37 Chromosome 11, 2799220: 2799220
42 KCNQ1 NM_000218.2(KCNQ1): c.1747C> T (p.Arg583Cys) single nucleotide variant Pathogenic rs17221854 GRCh38 Chromosome 11, 2777990: 2777990
43 KCNQ1 NM_000218.2(KCNQ1): c.805G> A (p.Gly269Ser) single nucleotide variant Pathogenic rs120074193 GRCh37 Chromosome 11, 2594100: 2594100
44 KCNQ1 NM_000218.2(KCNQ1): c.805G> A (p.Gly269Ser) single nucleotide variant Pathogenic rs120074193 GRCh38 Chromosome 11, 2572870: 2572870
45 KCNQ1 NM_000218.2(KCNQ1): c.806G> A (p.Gly269Asp) single nucleotide variant Pathogenic rs120074194 GRCh37 Chromosome 11, 2594101: 2594101
46 KCNQ1 NM_000218.2(KCNQ1): c.806G> A (p.Gly269Asp) single nucleotide variant Pathogenic rs120074194 GRCh38 Chromosome 11, 2572871: 2572871
47 KCNJ5 NM_000890.3(KCNJ5): c.1159G> C (p.Gly387Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs199830292 GRCh37 Chromosome 11, 128786525: 128786525
48 KCNJ5 NM_000890.3(KCNJ5): c.1159G> C (p.Gly387Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs199830292 GRCh38 Chromosome 11, 128916630: 128916630
49 SCN5A NM_198056.2(SCN5A): c.5350G> A (p.Glu1784Lys) single nucleotide variant Pathogenic rs137854601 GRCh37 Chromosome 3, 38592513: 38592513
50 SCN5A NM_198056.2(SCN5A): c.5350G> A (p.Glu1784Lys) single nucleotide variant Pathogenic rs137854601 GRCh38 Chromosome 3, 38551022: 38551022
Sources

Expression for Long Qt Syndrome 1

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

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 50)
# Super pathways Score Top Affiliating Genes
1
Developmental Biology 66
Show member pathways
 13.39 AKAP9 ANK2 CALM1 CALM2 CALM3 DSP
2
Circadian entrainment 37
Show member pathways
 12.99 CALM1 CALM2 CALM3 KCNJ5 KCNQ1 NOS1AP
3
G-Beta Gamma Signaling 64
Show member pathways
 12.98 CALM1 CALM2 CALM3 KCNJ5 SCN10A SCN4B
4
Transmission across Chemical Synapses 66
Show member pathways
 12.95 AKAP9 CALM1 CALM2 CALM3 KCNH2 KCNJ5
5
Cardiac conduction 66
Show member pathways
 12.7 AKAP9 CALM1 CALM2 CALM3 CAV3 KCNE1
6
Aldosterone synthesis and secretion 37
Show member pathways
 12.64 CALM1 CALM2 CALM3 KCNE1 KCNJ5 KCNQ1
7
Ion channel transport 66
Show member pathways
 12.5 CALM1 CALM2 CALM3 TRDN
8
Myometrial Relaxation and Contraction Pathways 1
Show member pathways
 12.49 CALM1 CALM2 CALM3 KCNJ5
9
DREAM Repression and Dynorphin Expression 64
Show member pathways
 12.45 CALM1 CALM2 CALM3 SNTA1
10
Dopamine-DARPP32 Feedback onto cAMP Pathway 64
12.27 AKAP9 CALM1 CALM2 CALM3 KCNE1 KCNE2
11
Post NMDA receptor activation events 66
Show member pathways
 12.19 AKAP9 CALM1 CALM2 CALM3
12
Salivary secretion 37
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 37
12.07 CALM1 CALM2 CALM3 CAV3
15
L1CAM interactions 66
Show member pathways
 12 ANK2 SCN10A SCN4B SCN5A
16
Amphetamine addiction 37
Show member pathways
 11.95 CALM1 CALM2 CALM3
17
Inositol phosphate metabolism 66
Show member pathways
 11.92 CALM1 CALM2 CALM3
18
Antigen activates B Cell Receptor (BCR) leading to generation of second messengers 66
Show member pathways
 11.89 CALM1 CALM2 CALM3
19
Glucagon signaling pathway 37
11.88 CALM1 CALM2 CALM3
20
ErbB1 downstream signaling 1
11.87 CALM1 CALM2 CALM3
21
Visual Cycle in Retinal Rods 64
11.85 CALM1 CALM2 CALM3
22
Development EPO-induced Jak-STAT pathway 22
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 22
Show member pathways
 11.81 CALM1 CALM2 CALM3
25
Uptake and actions of bacterial toxins 66
Show member pathways
 11.75 CALM1 CALM2 CALM3
26
Metabolism of nitric oxide 66
Show member pathways
 11.74 CALM1 CALM2 CALM3
27
Calcineurin-regulated NFAT-dependent transcription in lymphocytes 1
Show member pathways
 11.72 CALM1 CALM2 CALM3
28
Pertussis 37
11.72 CALM1 CALM2 CALM3
29
Signal transduction_Erk Interactions- Inhibition of Erk 22
11.7 CALM1 CALM2 CALM3
30
IL2 signaling events mediated by PI3K 1
Show member pathways
 11.66 CALM1 CALM2 CALM3
31
Renin secretion 37
11.64 CALM1 CALM2 CALM3
32
Translocation of GLUT4 to the plasma membrane 66
11.62 CALM1 CALM2 CALM3
33
Downstream signaling in naive CD8+ T cells 1
Show member pathways
 11.6 CALM1 CALM2 CALM3
34
Phase 0 - rapid depolarisation 66
Show member pathways
 11.53 AKAP9 CALM1 CALM2 CALM3 KCNE1 KCNE2
35
Role of Calcineurin-dependent NFAT signaling in lymphocytes 1
11.51 CALM1 CALM2 CALM3
36
Glycogen Metabolism 1
11.35 CALM1 CALM2 CALM3
37
Nur77 Signaling in T-Cell 64
11.33 CALM1 CALM2 CALM3
38
Smooth Muscle Contraction 66
11.31 CALM1 CALM2 CALM3 CAV3
39
N-cadherin signaling events 1
11.29 CALM1 CALM2 CALM3
40
Lissencephaly gene (LIS1) in neuronal migration and development 1
11.26 CALM1 CALM2 CALM3
41
Development_Thrombopoetin signaling via JAK-STAT pathway 22
11.24 CALM1 CALM2 CALM3
42
Insulin-mediated glucose transport 1
11.22 CALM1 CALM2 CALM3
43
p38 MAPK signaling pathway (Pathway Interaction Database) 1
11.21 CALM1 CALM2 CALM3
44
Interaction between L1 and Ankyrins 66
11.21 ANK2 SCN10A SCN4B SCN5A
45
nNOS Signaling at Neuronal Synapses 64
11.17 CALM1 CALM2 CALM3 NOS1AP
46
Cellular roles of Anthrax toxin 1
11.08 CALM1 CALM2 CALM3
47
Antiarrhythmic Pathway, Pharmacodynamics 61
11.02 ANK2 DSP KCNE1 KCNE2 KCNH2 KCNJ5
48
Protein methylation 66
10.99 CALM1 CALM2 CALM3
49
Regulation of cytoplasmic and nuclear SMAD2/3 signaling 1
10.98 CALM1 CALM2 CALM3
50
RHO GTPases activate IQGAPs 66
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 73)
# Name GO ID Score Top Affiliating Genes
1 potassium ion transmembrane transport GO:0071805 9.99 KCNE1 KCNE2 KCNH2 KCNQ1
2 muscle contraction GO:0006936 9.99 CALM1 CAV3 SNTA1 TRDN
3 regulation of ion transmembrane transport GO:0034765 9.97 KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1 SCN10A
4 calcium-mediated signaling GO:0019722 9.92 CALM1 CALM2 CALM3
5 cardiac muscle contraction GO:0060048 9.92 KCNH2 KCNQ1 SCN4B SCN5A
6 sodium ion transmembrane transport GO:0035725 9.91 SCN10A SCN4B SCN5A
7 cellular response to drug GO:0035690 9.9 KCNE2 KCNH2 KCNQ1
8 response to calcium ion GO:0051592 9.9 CALM1 CALM2 CALM3
9 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.9 AKAP9 ANK2 CAV3 KCNE1 KCNE2 KCNH2
10 cellular response to cAMP GO:0071320 9.89 AKAP9 KCNE1 KCNQ1
11 positive regulation of protein serine/threonine kinase activity GO:0071902 9.88 CALM1 CALM2 CALM3
12 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.88 ANK2 CALM1 CALM2 CALM3
13 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.88 CALM1 CALM2 CALM3 TRDN
14 substantia nigra development GO:0021762 9.87 CALM1 CALM2 CALM3
15 regulation of cytokinesis GO:0032465 9.87 CALM1 CALM2 CALM3
16 positive regulation of peptidyl-threonine phosphorylation GO:0010800 9.86 CALM1 CALM2 CALM3
17 positive regulation of potassium ion transmembrane transport GO:1901381 9.86 KCNE1 KCNH2 KCNQ1 NOS1AP
18 positive regulation of protein dephosphorylation GO:0035307 9.85 CALM1 CALM2 CALM3
19 positive regulation of protein autophosphorylation GO:0031954 9.85 CALM1 CALM2 CALM3
20 potassium ion export across plasma membrane GO:0097623 9.85 KCNE1 KCNE2 KCNH2 KCNQ1
21 positive regulation of nitric-oxide synthase activity GO:0051000 9.84 CALM1 CALM3 NOS1AP
22 regulation of potassium ion transmembrane transport GO:1901379 9.84 KCNE1 KCNE2 KCNH2
23 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.84 CALM1 CALM2 CALM3 TRDN
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 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.83 CALM1 CALM2 CALM3
27 potassium ion export GO:0071435 9.83 KCNE1 KCNE2 KCNH2 KCNQ1
28 cardiac muscle cell action potential involved in contraction GO:0086002 9.83 KCNE1 KCNE2 PKP2 SCN4B SCN5A
29 positive regulation of sodium ion transport GO:0010765 9.82 PKP2 SCN4B SCN5A
30 detection of calcium ion GO:0005513 9.82 CALM1 CALM2 CALM3
31 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.81 KCNE1 KCNH2 KCNQ1
32 regulation of membrane repolarization GO:0060306 9.81 AKAP9 KCNE2 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 9.79 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 9.77 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 9.75 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 9.74 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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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