LQT1
MCID: LNG044
MIFTS: 67

Long Qt Syndrome 1 (LQT1)

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Muscle diseases, Rare diseases
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Aliases & Classifications for Long Qt Syndrome 1

MalaCards integrated aliases for Long Qt Syndrome 1:

Name: Long Qt Syndrome 1 57 11 19 73 28 5 14
Romano-Ward Syndrome 57 19 42 58 75 73 53 5 71
Ward-Romano Syndrome 57 19 42 73
Lqt1 57 11 19 73
Ventricular Fibrillation with Prolonged Qt Interval 57 11 19
Rws 57 42 73
Wrs 57 42
Long Qt Syndrome 1, Acquired, Susceptibility to 57
Acquired Susceptibility to Long Qt Syndrome 1 5
Long Qt Syndrome 1, Acquired 57
Romano-Ward Long Qt Syndrome 58
Qt Syndrome, Long, Type 1 38
Long Qt Syndrome Type 1 75
Long Qt Syndrome-1 12

Characteristics:


Inheritance:

Long Qt Syndrome 1: Autosomal dominant 57
Romano-Ward Syndrome: Autosomal dominant,Autosomal recessive 58

Prevelance:

Romano-Ward Syndrome: 1-5/10000 (Europe) 58

Age Of Onset:

Romano-Ward Syndrome: All ages 58

OMIM®:

57 (Updated 08-Dec-2022)
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


Classifications:



External Ids:

Disease Ontology 11 DOID:0110644
OMIM® 57 192500
OMIM Phenotypic Series 57 PS192500
MeSH 43 D029597
ICD10 31 I45.8
MESH via Orphanet 44 D029597
ICD10 via Orphanet 32 I45.8
UMLS via Orphanet 72 C0035828
Orphanet 58 ORPHA101016
UMLS 71 C0035828

Summaries for Long Qt Syndrome 1

MedlinePlus Genetics: 42 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.The arrhythmia associated with Romano-Ward syndrome can lead to fainting (syncope) or cardiac arrest and sudden death. However, some people with Romano-Ward syndrome never experience any health problems associated with the condition.Fifteen types of long QT syndrome have been defined based on their genetic cause. Some types of long QT syndrome involve other cardiac abnormalities or problems with additional body systems. Romano-Ward syndrome encompasses those types that involve only a long QT interval without other abnormalities.

MalaCards based summary: Long Qt Syndrome 1, also known as romano-ward syndrome, is related to long qt syndrome 2 and long qt syndrome 3, 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 Activation of cAMP-Dependent PKA and Transmission across Chemical Synapses. The drugs Carbamide peroxide and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and skeletal muscle, and related phenotypes are prolonged qtc interval and syncope

GARD: 19 Romano-Ward syndrome is the most common form of inherited long 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) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 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.

Orphanet: 58 A form of familial long QT syndrome (LQTS) characterized by syncopal episodes and electrocardiographic abnormalities (QT prolongation, T-wave abnormalities and torsade de pointes (TdP) ventricular tachycardia).

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

Wikipedia 75 Long qt syndrome type 1: Long QT syndrome (LQTS) is a condition affecting repolarization (relaxing) of the heart after a... more...

Romano-ward syndrome: Romano-Ward syndrome is the most common form of congenital Long QT syndrome (LQTS), a genetic heart... more...

Related Diseases for Long Qt Syndrome 1

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
Long Qt Syndrome 8 Long Qt Syndrome 16
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 111)
# Related Disease Score Top Affiliating Genes
1 long qt syndrome 2 32.9 TRDN SNTA1 SCN5A SCN4B KCNQ1 KCNJ5
2 long qt syndrome 3 32.1 TRDN SNTA1 SCN5A SCN4B KCNQ1 KCNJ5
3 long qt syndrome 6 32.1 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
4 long qt syndrome 12 32.1 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
5 long qt syndrome 5 32.0 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
6 long qt syndrome 13 32.0 SNTA1 SCN5A SCN4B KCNQ1 KCNJ5 KCNH2
7 long qt syndrome 9 32.0 TRDN SNTA1 SCN5A SCN4B KCNQ1 KCNJ5
8 familial long qt syndrome 31.4 SCN5A KCNQ1OT1 KCNQ1-AS1 KCNQ1 KCNH2 KCNE1
9 long qt syndrome 31.3 TRDN SNTA1 SCN5A SCN4B SCN10A KCNQ1OT1
10 syncope 31.1 SCN5A KCNQ1 KCNH2
11 progressive familial heart block, type ia 30.9 SCN5A DSP ANK2
12 hypokalemia 30.9 KCNQ1 KCNJ5 KCNH2
13 atrial fibrillation 30.8 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
14 jervell and lange-nielsen syndrome 1 30.8 TRDN SNTA1 SCN5A SCN4B KCNQ1OT1 KCNQ1-AS1
15 short qt syndrome 30.8 SCN5A SCN4B KCNQ1 KCNJ5 KCNH2 KCNE2
16 cardiac conduction defect 30.7 SCN5A KCNQ1 DSP CACNA1C
17 familial atrial fibrillation 30.7 SNTA1 SCN5A SCN4B SCN10A KCNQ1 KCNJ5
18 cardiac arrest 30.6 TRDN SCN5A KCNQ1 KCNH2 DSP CALM3
19 ventricular fibrillation, paroxysmal familial, 1 30.6 SCN5A KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
20 cardiomyopathy, familial hypertrophic, 1 30.5 SCN5A KCNQ1 KCNH2 CAV3 CACNA1C
21 lipoprotein quantitative trait locus 30.4 SCN5A KCNQ1 KCNJ5 KCNH2 KCNE2 CACNA1C
22 hypertrophic cardiomyopathy 30.4 TRDN SNTA1 SCN5A KCNQ1 KCNH2 KCNE2
23 catecholaminergic polymorphic ventricular tachycardia 30.3 TRDN SNTA1 SCN5A SCN4B KCNQ1 KCNJ5
24 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 11.6
25 ragweed sensitivity 11.0
26 torsade de pointes, short-coupled variant 10.9
27 long qt syndrome 8 10.9
28 brugada syndrome 4 10.5 SCN5A KCNQ1 KCNH2 CACNA1C
29 progressive familial heart block 10.5 SCN5A KCNQ1 DSP
30 diamond-blackfan anemia 3 10.5 SCN5A KCNH2 CALM3 CALM1
31 sinoatrial node disease 10.5 SCN5A SCN10A KCNQ1 KCNH2 KCNE2 CACNA1C
32 right bundle branch block 10.5 SCN5A KCNH2 DSP CACNA1C
33 deafness, autosomal recessive 98 10.5 KCNQ1 KCNE2 KCNE1
34 brugada syndrome 3 10.5 KCNE2 CACNA1C ANK2
35 atrioventricular block 10.5 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1 CACNA1C
36 long qt syndrome 14 10.5 TRDN SNTA1 SCN5A SCN4B KCNQ1 KCNH2
37 sick sinus syndrome 10.5 SCN5A SCN10A KCNE1 CACNA1C
38 developmental and epileptic encephalopathy 14 10.5 SCN5A KCNQ1 KCNH2
39 long qt syndrome 15 10.5 TRDN SNTA1 SCN4B KCNH2 CALM3 CALM2
40 arrhythmogenic right ventricular cardiomyopathy 10.5 SCN5A KCNQ1 KCNH2 DSP CACNA1C ANK2
41 third-degree atrioventricular block 10.5 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1 CACNA1C
42 familial periodic paralysis 10.5 SCN5A KCNJ5 CACNA1C
43 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.5 TRDN CALM1 CACNA1C ANK2
44 familial short qt syndrome 10.5 KCNQ1 KCNH2
45 brugada syndrome 1 10.5 SCN5A SCN10A KCNH2
46 sudden infant death syndrome 10.5 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 CAV3
47 generalized epilepsy with febrile seizures plus 10.4 SCN5A SCN4B SCN10A ANK2
48 long qt syndrome 10 10.4 SNTA1 SCN5A SCN4B KCNJ5 KCNE2 KCNE1
49 noonan syndrome with multiple lentigines 10.4 SCN5A KCNQ1 KCNH2
50 paroxysmal extreme pain disorder 10.4 SCN5A SCN4B SCN10A

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

Human phenotypes related to Long Qt Syndrome 1:

58 30 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 prolonged qtc interval 58 30 Very rare (1%) Obligate (100%)
HP:0005184
2 syncope 58 30 Very rare (1%) Frequent (79-30%)
HP:0001279
3 abnormal t-wave 58 30 Frequent (33%) Frequent (79-30%)
HP:0005135
4 sinus bradycardia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001688
5 seizure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001250
6 sudden cardiac death 58 30 Very rare (1%) Occasional (29-5%)
HP:0001645
7 abnormal autonomic nervous system physiology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012332
8 torsade de pointes 58 30 Very rare (1%) Occasional (29-5%)
HP:0001664
9 abnormal cardiac exercise stress test 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0500018
10 hypokalemia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002900
11 abnormality of prenatal development or birth 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001197
12 ventricular fibrillation 30 Very rare (1%) HP:0001663
13 hearing impairment 58 Excluded (0%)
14 ventricular arrhythmia 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Cardiovascular Heart:
sudden cardiac death
syncope
ventricular fibrillation
torsade de pointes
prolonged qt interval on ekg

Head And Neck Ears:
normal hearing

Clinical features from OMIM®:

192500 (Updated 08-Dec-2022)

UMLS symptoms related to Long Qt Syndrome 1:


syncope

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

25
# 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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.85 ANK2 CACNA1C CAV3 DSP KCNE1 KCNH2
2 growth/size/body region MP:0005378 9.77 AKAP9 ANK2 CACNA1C CALM1 CAV3 DSP
3 cardiovascular system MP:0005385 9.36 ANK2 CACNA1C CALM1 CAV3 DSP KCNE1

Drugs & Therapeutics for Long Qt Syndrome 1

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

(show all 36)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carbamide peroxide Approved 124-43-6
2
Methylphenidate Approved, Investigational 113-45-1 4158
3
Citalopram Approved 59729-32-7, 59729-33-8 2771
4
Racepinephrine Approved, Vet_approved 51-43-4, 329-65-7 838 5816
5
Spironolactone Approved 1952-01-7, 52-01-7 5833
6
Aspartic acid Approved, Nutraceutical 56-84-8 5960
7
Dexetimide Withdrawn 21888-98-2 30843
8 Calcium, Dietary
9 Antidepressive Agents
10 N-Methylaspartate
11 Natriuretic Peptide, Brain
12 Epinephryl borate
13 Bronchodilator Agents
14 Adrenergic beta-Agonists
15 Adrenergic alpha-Agonists
16 Anti-Asthmatic Agents
17 Adrenergic Agonists
18 Vasoconstrictor Agents
19 Respiratory System Agents
20 Mydriatics
21 Sympathomimetics
22 Neurotransmitter Agents
23 Adrenergic beta-Antagonists
24 Adrenergic Antagonists
25 Adrenergic Agents
26 Hormones
27 Hormone Antagonists
28 Diuretics, Potassium Sparing
29 diuretics
30 Mineralocorticoids
31 Mineralocorticoid Receptor Antagonists
32 Insulin, Globin Zinc
33
Insulin
34 Chrysarobin
35
D-Alanine Experimental, Nutraceutical 302-72-7, 338-69-2, 56-41-7 101757026 602 71080 5950
36
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Exploring the Effect of Methylphenidate and Antidepressants on Cardiac Repolarisation. Unknown status NCT03642405
2 Comparison Between Epinephrine and Exercise Test in QT Long Syndrome Patients With KCNQ1 or KCNH2 Mutation Without Long QT Interval in Rest ECG Unknown status NCT01745666
3 Exploring Mechanisms and Morphology of QT Interval Prolongation - An Inheritable as Well as an Inducible Phenomenon Completed NCT03291145 Beta Blockers;Spironolactone
4 Interventional Study With Low Risks and Constraints on the Effect of KCNQ1 Mutation (Romano-Ward Syndrome) on Insulin Tolerance and Obsessive Compulsive Features, a Cross-sectional Study With Matched Controls With an Attempt of Linkage to Whole Genome Scanning. Recruiting NCT04715256

Search NIH Clinical Center for Long Qt Syndrome 1

Genetic Tests for Long Qt Syndrome 1

Genetic tests related to Long Qt Syndrome 1:

# Genetic test Affiliating Genes
1 Long Qt Syndrome 1 28 KCNQ1

Anatomical Context for Long Qt Syndrome 1

Organs/tissues related to Long Qt Syndrome 1:

MalaCards : Heart, Brain, Skeletal Muscle, Trachea, Colon, Thyroid, Eye
ODiseA: Heart-Ventricle, Heart

Publications for Long Qt Syndrome 1

Articles related to Long Qt Syndrome 1:

(show top 50) (show all 882)
# Title Authors PMID Year
1
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 53 62 57 5
10973849 2000
2
Prevalence of early-onset atrial fibrillation in congenital long QT syndrome. 62 57 5
18452873 2008
3
Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population. 62 57 5
16246960 2005
4
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 62 57 5
15840476 2005
5
Risk stratification in the long-QT syndrome. 62 57 5
12736279 2003
6
A novel mutation in KVLQT1 is the molecular basis of inherited long QT syndrome in a near-drowning patient's family. 62 57 5
9702906 1998
7
Evidence of a long QT founder gene with varying phenotypic expression in South African families. 62 57 5
8818942 1996
8
Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. 62 57 5
8528244 1996
9
AKAP9 is a genetic modifier of congenital long-QT syndrome type 1. 57 5
25087618 2014
10
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. 57 5
18580685 2008
11
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. 57 5
16922724 2006
12
Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. 57 5
16414944 2005
13
Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population. 57 5
16132053 2005
14
Compound mutations: a common cause of severe long-QT syndrome. 57 5
15051636 2004
15
Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes. 57 5
11997281 2002
16
C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence. 57 5
10086971 1999
17
Low penetrance in the long-QT syndrome: clinical impact. 57 5
9927399 1999
18
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. 57 5
10220144 1999
19
KVLQT1 mutations in three families with familial or sporadic long QT syndrome. 57 5
8872472 1996
20
Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers. 53 62 5
18752142 2008
21
The homozygous KCNQ1 gene mutation associated with recessive Romano-Ward syndrome. 53 62 5
16981927 2006
22
A founder mutation of the potassium channel KCNQ1 in long QT syndrome: implications for estimation of disease prevalence and molecular diagnostics. 53 62 5
11216980 2001
23
Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene. 53 62 5
10482963 1999
24
KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome. 53 62 5
9386136 1997
25
Identification and characterization of a novel recessive KCNQ1 mutation associated with Romano-Ward Long-QT syndrome in two Iranian families. 62 5
29033053 2017
26
Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia. 62 5
28944242 2017
27
Contribution of a KCNH2 variant in genotyped long QT syndrome: Romano-Ward syndrome under double mutations and acquired long QT syndrome under heterozygote. 62 5
27816319 2017
28
Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. 62 5
26669661 2016
29
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. 62 5
27041150 2016
30
Phenotype guided characterization and molecular analysis of Indian patients with long QT syndromes. 62 5
27485560 2016
31
QT Adaptation and Intrinsic QT Variability in Congenital Long QT Syndrome. 62 5
26675252 2015
32
Microscopic mechanisms for long QT syndrome type 1 revealed by single-channel analysis of I(Ks) with S3 domain mutations in KCNQ1. 62 5
25444851 2015
33
Cellular mechanisms underlying the increased disease severity seen for patients with long QT syndrome caused by compound mutations in KCNQ1. 62 5
24912595 2014
34
LQTS in Northern BC: homozygosity for KCNQ1 V205M presents with a more severe cardiac phenotype but with minimal impact on auditory function. 62 5
23844633 2014
35
Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome. 62 5
23158531 2012
36
Readthrough of long-QT syndrome type 1 nonsense mutations rescues function but alters the biophysical properties of the channel. 62 5
22309168 2012
37
Mutations in cytoplasmic loops of the KCNQ1 channel and the risk of life-threatening events: implications for mutation-specific response to β-blocker therapy in type 1 long-QT syndrome. 62 5
22456477 2012
38
Identification and functional characterization of KCNQ1 mutations around the exon 7-intron 7 junction affecting the splicing process. 62 5
21810471 2011
39
R231C mutation in KCNQ1 causes long QT syndrome type 1 and familial atrial fibrillation. 62 5
20850564 2011
40
Mechanistic basis for LQT1 caused by S3 mutations in the KCNQ1 subunit of IKs. 62 5
20421371 2010
41
PKA and PKC partially rescue long QT type 1 phenotype by restoring channel-PIP2 interactions. 62 5
19934648 2010
42
Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. 62 5
19841300 2009
43
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. 62 5
19716085 2009
44
Mutations in conserved amino acids in the KCNQ1 channel and risk of cardiac events in type-1 long-QT syndrome. 62 5
19490272 2009
45
Long QT syndrome-associated mutations in the voltage sensor of I(Ks) channels. 62 5
19590188 2009
46
Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing. 62 5
16818210 2006
47
Allelic dropout in long QT syndrome genetic testing: a possible mechanism underlying false-negative results. 62 5
16818214 2006
48
[Novel mutations of potassium channel KCNQ1 S145L and KCNH2 Y475C genes in Chinese pedigrees of long QT syndrome]. 62 5
16831322 2006
49
Abnormal KCNQ1 trafficking influences disease pathogenesis in hereditary long QT syndromes (LQT1). 62 5
15935335 2005
50
Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. 62 5
15466642 2004

Variations for Long Qt Syndrome 1

ClinVar genetic disease variations for Long Qt Syndrome 1:

5 (show top 50) (show all 1822)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KCNE1 NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) SNV Likely Benign; Risk Factor
13479 rs1805128 GRCh37: 21:35821680-35821680
GRCh38: 21:34449382-34449382
2 KCNQ1-AS1, KCNQ1 NM_000218.3(KCNQ1):c.1893dup (p.Arg632fs) DUP Pathogenic
Pathogenic
Conflicting Interpretations Of Pathogenicity
53027 rs397508104 GRCh37: 11:2869088-2869089
GRCh38: 11:2847858-2847859
3 KCNQ1 NM_000218.3(KCNQ1):c.973G>A (p.Gly325Arg) SNV Pathogenic
Not Provided
53152 rs199472756 GRCh37: 11:2604716-2604716
GRCh38: 11:2583486-2583486
4 KCNQ1 NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) DEL Pathogenic
Pathogenic
Pathogenic
53072 rs397508118 GRCh37: 11:2591950-2591954
GRCh38: 11:2570720-2570724
5 KCNQ1 NM_000218.3(KCNQ1):c.1066C>T (p.Gln356Ter) SNV Pathogenic
Pathogenic
52946 rs397508072 GRCh37: 11:2606475-2606475
GRCh38: 11:2585245-2585245
6 KCNQ1 NM_000218.3(KCNQ1):c.1766G>A (p.Gly589Asp) SNV Pathogenic
Pathogenic
Not Provided
3140 rs120074190 GRCh37: 11:2799239-2799239
GRCh38: 11:2778009-2778009
7 KCNQ1 NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln) SNV Pathogenic
Pathogenic
Likely Pathogenic
53018 rs199472815 GRCh37: 11:2799254-2799254
GRCh38: 11:2778024-2778024
8 KCNQ1 NM_000218.3(KCNQ1):c.1265del (p.Lys422fs) DEL Pathogenic
52973 rs397508083 GRCh37: 11:2609949-2609949
GRCh38: 11:2588719-2588719
9 KCNQ1 NM_000218.3(KCNQ1):c.1615C>T (p.Arg539Trp) SNV Pathogenic
Pathogenic
Not Provided
52998 rs199472795 GRCh37: 11:2797214-2797214
GRCh38: 11:2775984-2775984
10 KCNQ1 NM_000218.3(KCNQ1):c.964A>G (p.Thr322Ala) SNV Pathogenic
Not Provided
53149 rs199472754 GRCh37: 11:2604707-2604707
GRCh38: 11:2583477-2583477
11 KCNQ1 NM_000218.3(KCNQ1):c.477+1G>A SNV Pathogenic
Pathogenic
200874 rs762814879 GRCh37: 11:2549249-2549249
GRCh38: 11:2528019-2528019
12 KCNQ1 NM_000218.3(KCNQ1):c.1250dup (p.Val418fs) DUP Pathogenic
1179766 GRCh37: 11:2608920-2608921
GRCh38: 11:2587690-2587691
13 KCNQ1 NM_000218.3(KCNQ1):c.1637C>T (p.Ser546Leu) SNV Pathogenic
Not Provided
53000 rs199473480 GRCh37: 11:2797236-2797236
GRCh38: 11:2776006-2776006
14 KCNQ1 NM_000218.3(KCNQ1):c.1124_1127del (p.Ile375fs) DEL Pathogenic
52962 rs397508077 GRCh37: 11:2606530-2606533
GRCh38: 11:2585300-2585303
15 KCNQ1 NM_000218.3(KCNQ1):c.1588C>T (p.Gln530Ter) SNV Pathogenic
Pathogenic
52996 rs397508097 GRCh37: 11:2790147-2790147
GRCh38: 11:2768917-2768917
16 CALM3 NM_005184.4(CALM3):c.286G>C (p.Asp96His) SNV Pathogenic
409870 rs1060502607 GRCh37: 19:47112103-47112103
GRCh38: 19:46608846-46608846
17 CALM2 NM_001743.6(CALM2):c.286G>T (p.Asp96Tyr) SNV Pathogenic
641544 rs1573214371 GRCh37: 2:47388997-47388997
GRCh38: 2:47161858-47161858
18 CALM2 NM_001743.6(CALM2):c.395A>G (p.Asp132Gly) SNV Pathogenic
955533 rs1687164164 GRCh37: 2:47388888-47388888
GRCh38: 2:47161749-47161749
19 KCNQ1 NM_000218.3(KCNQ1):c.603_604+9del DEL Pathogenic
200912 rs794728580 GRCh37: 11:2591979-2591989
GRCh38: 11:2570749-2570759
20 KCNQ1 NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu) SNV Pathogenic
Likely Pathogenic
53083 rs199473456 GRCh37: 11:2592624-2592624
GRCh38: 11:2571394-2571394
21 KCNQ1 NM_000218.3(KCNQ1):c.1265dup (p.Phe423fs) DUP Pathogenic
52974 rs397508083 GRCh37: 11:2609948-2609949
GRCh38: 11:2588718-2588719
22 KCNQ1 NM_000218.3(KCNQ1):c.477+5G>A SNV Pathogenic
Pathogenic
Pathogenic
53047 rs397508111 GRCh37: 11:2549253-2549253
GRCh38: 11:2528023-2528023
23 KCNQ1 NM_000218.3(KCNQ1):c.968G>A (p.Trp323Ter) SNV Pathogenic
1723453 GRCh37: 11:2604711-2604711
GRCh38: 11:2583481-2583481
24 KCNQ1 NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp) SNV Pathogenic
Likely Pathogenic
52955 rs199473411 GRCh37: 11:2606505-2606505
GRCh38: 11:2585275-2585275
25 KCNQ1 NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter) SNV Pathogenic
Pathogenic
3131 rs17215500 GRCh37: 11:2790111-2790111
GRCh38: 11:2768881-2768881
26 KCNQ1 NM_000218.3(KCNQ1):c.520C>T (p.Arg174Cys) SNV Pathogenic
Not Provided
53058 rs199472696 GRCh37: 11:2591900-2591900
GRCh38: 11:2570670-2570670
27 SCN5A NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) SNV Pathogenic
Pathogenic
Not Provided
9377 rs137854601 GRCh37: 3:38592513-38592513
GRCh38: 3:38551022-38551022
28 DSP NM_004415.4(DSP):c.3337C>T (p.Arg1113Ter) SNV Pathogenic
405247 rs746877365 GRCh37: 6:7579760-7579760
GRCh38: 6:7579527-7579527
29 KCNQ1 NM_000218.3(KCNQ1):c.585del (p.Lys196fs) DEL Pathogenic
53076 rs397508120 GRCh37: 11:2591964-2591964
GRCh38: 11:2570734-2570734
30 KCNQ1 NM_000218.3(KCNQ1):c.1685+1G>A SNV Pathogenic
200851 rs794728531 GRCh37: 11:2797285-2797285
GRCh38: 11:2776055-2776055
31 KCNQ1 NM_000218.3(KCNQ1):c.569G>T (p.Arg190Leu) SNV Pathogenic
Not Provided
67084 rs120074178 GRCh37: 11:2591949-2591949
GRCh38: 11:2570719-2570719
32 KCNQ1 NM_000218.3(KCNQ1):c.914G>T (p.Trp305Leu) SNV Pathogenic
200824 rs120074186 GRCh37: 11:2594209-2594209
GRCh38: 11:2572979-2572979
33 KCNQ1 NM_000218.3(KCNQ1):c.488del (p.Leu163fs) DEL Pathogenic
Likely Pathogenic
53050 rs397508112 GRCh37: 11:2591868-2591868
GRCh38: 11:2570638-2570638
34 KCNQ1 NM_000218.3(KCNQ1):c.1772G>A (p.Arg591His) SNV Pathogenic
Not Provided
53017 rs199472814 GRCh37: 11:2799245-2799245
GRCh38: 11:2778015-2778015
35 KCNQ1 NM_000218.3(KCNQ1):c.775C>T (p.Arg259Cys) SNV Pathogenic
Not Provided
53100 rs199472719 GRCh37: 11:2593334-2593334
GRCh38: 11:2572104-2572104
36 KCNQ1-AS1, KCNQ1 NM_000218.3(KCNQ1):c.1876G>A (p.Gly626Ser) SNV Pathogenic
Not Provided
53022 rs199472821 GRCh37: 11:2869078-2869078
GRCh38: 11:2847848-2847848
37 KCNQ1 NM_000218.3(KCNQ1):c.692G>A (p.Arg231His) SNV Pathogenic
Pathogenic
Not Provided
53087 rs199472709 GRCh37: 11:2593251-2593251
GRCh38: 11:2572021-2572021
38 KCNQ1 NM_000218.3(KCNQ1):c.805G>A (p.Gly269Ser) SNV Pathogenic
Pathogenic
Not Provided
3144 rs120074193 GRCh37: 11:2594100-2594100
GRCh38: 11:2572870-2572870
39 KCNQ1 NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg) SNV Pathogenic
Likely Pathogenic
Likely Pathogenic
52953 rs12720458 GRCh37: 11:2606494-2606494
GRCh38: 11:2585264-2585264
40 KCNQ1 NM_000218.3(KCNQ1):c.796del (p.Leu266fs) DEL Pathogenic
53107 rs397508125 GRCh37: 11:2594089-2594089
GRCh38: 11:2572859-2572859
41 KCNQ1 NM_000218.3(KCNQ1):c.1685+2T>C SNV Pathogenic
637975 rs1590081467 GRCh37: 11:2797286-2797286
GRCh38: 11:2776056-2776056
42 KCNQ1 NM_000218.3(KCNQ1):c.914G>A (p.Trp305Ter) SNV Pathogenic
53124 rs120074186 GRCh37: 11:2594209-2594209
GRCh38: 11:2572979-2572979
43 KCNQ1 NM_000218.3(KCNQ1):c.551A>C (p.Tyr184Ser) SNV Pathogenic
Not Provided
53064 rs199473397 GRCh37: 11:2591931-2591931
GRCh38: 11:2570701-2570701
44 KCNQ1 NM_000218.3(KCNQ1):c.1251+1G>A SNV Pathogenic
812675 rs1589968661 GRCh37: 11:2608923-2608923
GRCh38: 11:2587693-2587693
45 KCNQ1 NM_000218.3(KCNQ1):c.604+2T>C SNV Pathogenic
869440 rs1848322089 GRCh37: 11:2591986-2591986
GRCh38: 11:2570756-2570756
46 KCNH2 NM_000238.4(KCNH2):c.2254C>T (p.Arg752Trp) SNV Pathogenic
67379 rs199472990 GRCh37: 7:150647400-150647400
GRCh38: 7:150950312-150950312
47 KCNQ1 NM_000218.3(KCNQ1):c.613G>A (p.Val205Met) SNV Pathogenic
Pathogenic
37255 rs151344631 GRCh37: 11:2592563-2592563
GRCh38: 11:2571333-2571333
48 CALM2 NM_001743.6(CALM2):c.293A>G (p.Asn98Ser) SNV Pathogenic
96720 rs398124647 GRCh37: 2:47388990-47388990
GRCh38: 2:47161851-47161851
49 KCNQ1 NM_000218.3(KCNQ1):c.364dup (p.Cys122fs) DUP Pathogenic
200915 rs397508109 GRCh37: 11:2466691-2466692
GRCh38: 11:2445461-2445462
50 KCNQ1 NM_000218.3(KCNQ1):c.443del (p.Tyr148fs) DEL Pathogenic
207969 rs878854347 GRCh37: 11:2549214-2549214
GRCh38: 11:2527984-2527984

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

73 (show top 50) (show all 123)
# 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

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 41)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.48 SCN5A SCN4B SCN10A CALM3 CALM2 CALM1
2
Show member pathways
13.06 KCNQ1 KCNJ5 KCNH2 CALM3 CALM2 CALM1
3
Show member pathways
12.66 SNTA1 DSP CALM3 CALM2 CALM1 CACNA1C
4
Show member pathways
12.55 CACNA1C CALM1 CALM2 CALM3 SCN10A
5
Show member pathways
12.53 AKAP9 CACNA1C CALM1 CALM2 CALM3 CAV3
6
Show member pathways
12.51 CACNA1C CALM1 CALM2 CALM3 KCNJ5 SCN10A
7
Show member pathways
12.45 KCNJ5 CALM3 CALM2 CALM1 CACNA1C
8
Show member pathways
12.44 TRDN CALM3 CALM2 CALM1
9
Show member pathways
12.4 CALM3 CALM2 CALM1 CACNA1C
10
Show member pathways
12.25 CALM3 CALM2 CALM1 CACNA1C
11 12.21 KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1 CALM3
12
Show member pathways
12.19 SCN5A SCN4B SCN10A ANK2
13
Show member pathways
12.15 CACNA1C CALM1 CALM2 CALM3
14
Show member pathways
12.08 CALM3 CALM2 CALM1 AKAP9
15 12.05 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 CAV3
16
Show member pathways
11.97 CALM3 CALM2 CALM1
17
Show member pathways
11.93 CALM3 CALM2 CALM1 CACNA1C
18
Show member pathways
11.92 CALM3 CALM2 CALM1
19
Show member pathways
11.87 CALM3 CALM2 CALM1
20 11.82 CALM3 CALM2 CALM1
21
Show member pathways
11.79 CALM3 CALM2 CALM1
22
Show member pathways
11.78 CALM3 CALM2 CALM1
23
Show member pathways
11.72 CALM3 CALM2 CALM1
24
Show member pathways
11.71 CALM3 CALM2 CALM1
25 11.68 CALM1 CALM2 CALM3
26
Show member pathways
11.55 CALM3 CALM2 CALM1
27 11.48 CALM3 CALM2 CALM1
28 11.46 CALM3 CALM2 CALM1
29 11.41 CAV3 CALM3 CALM2 CALM1
30
Show member pathways
11.36 CALM3 CALM2 CALM1
31
Show member pathways
11.34 CALM3 CALM2 CALM1
32 11.33 SCN5A SCN4B SCN10A CALM3 CALM2 CALM1
33 11.3 CALM3 CALM2 CALM1
34 11.2 SCN5A SCN4B SCN10A ANK2
35 11.17 CALM3 CALM2 CALM1
36 11.13 CALM3 CALM2 CALM1
37 11.06 ANK2 CACNA1C DSP KCNE1 KCNE2 KCNH2
38 10.99 CALM3 CALM2 CALM1
39 10.93 CALM1 CALM2 CALM3
40 10.78 KCNE1 KCNQ1
41 10.45 CALM3 CALM2 CALM1

GO Terms for Long Qt Syndrome 1

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016021 10.77 TRDN SCN5A SCN4B SCN10A KCNQ1 KCNJ5
2 membrane GO:0016020 10.77 TRDN SNTA1 SCN5A SCN4B SCN10A KCNQ1
3 plasma membrane GO:0005886 10.7 ANK2 CACNA1C CALM1 CALM2 CALM3 CAV3
4 plasma membrane GO:0005887 10.7 CACNA1C CAV3 KCNH2
5 vesicle GO:0031982 10.14 CALM1 CALM2 CALM3 CAV3
6 Z disc GO:0030018 10.02 ANK2 CACNA1C CAV3 KCNE1 SCN5A
7 sarcomere GO:0030017 10 CALM3 CALM2 CALM1
8 sperm midpiece GO:0097225 9.99 CALM3 CALM2 CALM1
9 spindle microtubule GO:0005876 9.97 CALM3 CALM2 CALM1
10 myelin sheath GO:0043209 9.95 CALM1 CALM2 CALM3
11 calcium channel complex GO:0034704 9.91 CALM1 CALM2 CALM3
12 catalytic complex GO:1902494 9.88 CALM3 CALM2 CALM1
13 voltage-gated sodium channel complex GO:0001518 9.85 SCN5A SCN4B SCN10A
14 sarcolemma GO:0042383 9.81 SNTA1 SCN5A CAV3 CACNA1C ANK2
15 T-tubule GO:0030315 9.8 SCN5A CAV3 CACNA1C ANK2
16 potassium channel complex GO:0034705 9.73 KCNQ1 AKAP9
17 intercalated disc GO:0014704 9.65 ANK2 CAV3 DSP SCN4B SCN5A
18 voltage-gated potassium channel complex GO:0008076 9.58 KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1 CALM3

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

(show top 50) (show all 71)
# Name GO ID Score Top Affiliating Genes
1 potassium ion transmembrane transport GO:0071805 10.31 KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
2 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 10.26 SCN4B KCNQ1 KCNH2 KCNE2 KCNE1 CAV3
3 potassium ion import across plasma membrane GO:1990573 10.24 KCNQ1 KCNJ5 KCNH2 KCNE2
4 cardiac muscle contraction GO:0060048 10.24 SCN5A SCN4B KCNQ1 KCNH2
5 positive regulation of protein serine/threonine kinase activity GO:0071902 10.22 CALM3 CALM2 CALM1
6 G2/M transition of mitotic cell cycle GO:0000086 10.21 CALM1 CALM2 CALM3
7 response to calcium ion GO:0051592 10.21 CALM1 CALM2 CALM3
8 cellular response to cAMP GO:0071320 10.21 KCNQ1 KCNE1 AKAP9
9 substantia nigra development GO:0021762 10.2 CALM3 CALM2 CALM1
10 regulation of heart rate by cardiac conduction GO:0086091 10.2 SCN5A SCN4B KCNQ1 KCNJ5 KCNH2 KCNE2
11 regulation of cytokinesis GO:0032465 10.19 CALM3 CALM2 CALM1
12 positive regulation of DNA binding GO:0043388 10.18 CALM3 CALM2 CALM1
13 sodium ion transport GO:0006814 10.18 SCN5A SCN4B SCN10A KCNQ1
14 positive regulation of protein dephosphorylation GO:0035307 10.17 CALM3 CALM2 CALM1
15 positive regulation of peptidyl-threonine phosphorylation GO:0010800 10.17 CALM3 CALM2 CALM1
16 positive regulation of protein autophosphorylation GO:0031954 10.17 CALM3 CALM2 CALM1
17 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 10.17 TRDN CALM3 CALM2 CALM1
18 regulation of potassium ion transmembrane transport GO:1901379 10.16 KCNE1 KCNE2 KCNH2
19 negative regulation of peptidyl-threonine phosphorylation GO:0010801 10.16 CALM3 CALM2 CALM1
20 potassium ion export across plasma membrane GO:0097623 10.16 KCNE1 KCNE2 KCNH2 KCNQ1
21 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 10.16 ANK2 CACNA1C CALM1 CALM2 CALM3
22 regulation of calcium-mediated signaling GO:0050848 10.15 CALM3 CALM2 CALM1
23 positive regulation of phosphoprotein phosphatase activity GO:0032516 10.15 CALM1 CALM2 CALM3
24 monoatomic ion transport GO:0006811 10.15 SCN5A SCN4B SCN10A KCNQ1 KCNJ5 KCNH2
25 regulation of cardiac muscle contraction GO:0055117 10.15 SCN10A CAV3 CALM3 CALM2 CALM1 ANK2
26 membrane depolarization during action potential GO:0086010 10.14 KCNH2 SCN10A SCN5A
27 positive regulation of potassium ion transmembrane transport GO:1901381 10.14 KCNQ1 KCNH2 KCNE1
28 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 10.14 TRDN CALM3 CALM2 CALM1
29 detection of calcium ion GO:0005513 10.13 CALM3 CALM2 CALM1
30 membrane depolarization during cardiac muscle cell action potential GO:0086012 10.13 CACNA1C SCN4B SCN5A
31 regulation of membrane repolarization GO:0060306 10.13 KCNQ1 KCNH2 KCNE2 AKAP9
32 cardiac muscle cell action potential involved in contraction GO:0086002 10.13 SCN5A SCN4B KCNE2 KCNE1 CACNA1C
33 potassium ion transport GO:0006813 10.11 KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
34 membrane repolarization during action potential GO:0086011 10.11 KCNE1 KCNE2 KCNH2 KCNQ1
35 membrane repolarization during cardiac muscle cell action potential GO:0086013 10.1 KCNE1 KCNH2 KCNQ1
36 regulation of cell communication by electrical coupling involved in cardiac conduction GO:1901844 10.1 CALM3 CALM2 CALM1
37 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 10.1 KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
38 atrial cardiac muscle cell action potential GO:0086014 10.09 SCN5A KCNQ1 ANK2
39 monoatomic ion transmembrane transport GO:0034220 10.09 SCN5A SCN10A KCNQ1 KCNJ5 KCNH2 CACNA1C
40 membrane repolarization GO:0086009 10.09 KCNQ1 KCNH2 KCNE2 KCNE1
41 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 10.08 TRDN CALM3 CALM2 CALM1
42 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 10.07 CALM3 CALM2 CALM1
43 positive regulation of cyclic-nucleotide phosphodiesterase activity GO:0051343 10.07 CALM1 CALM2 CALM3
44 negative regulation of calcium ion export across plasma membrane GO:1905913 10.06 CALM3 CALM2 CALM1
45 regulation of monoatomic ion transmembrane transport GO:0034765 10.06 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
46 negative regulation of potassium ion transmembrane transport GO:1901380 10.05 KCNH2 CAV3
47 AV node cell action potential GO:0086016 10.05 SCN5A SCN4B SCN10A
48 regulation of sodium ion transmembrane transport GO:1902305 10.04 SNTA1 SCN5A
49 T-tubule organization GO:0033292 10.04 CAV3 ANK2
50 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 10.04 SCN5A SCN10A

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 scaffold protein binding GO:0097110 10.15 SCN5A KCNQ1 KCNH2 DSP
2 protein serine/threonine kinase activator activity GO:0043539 10.1 CALM3 CALM2 CALM1
3 potassium channel regulator activity GO:0015459 10.09 KCNE2 KCNE1 AKAP9
4 disordered domain specific binding GO:0097718 10.08 CALM1 CALM2 CALM3
5 voltage-gated potassium channel activity GO:0005249 10.08 KCNE1 KCNE2 KCNH2 KCNQ1
6 sodium channel regulator activity GO:0017080 10.07 SNTA1 SCN4B CAV3
7 enzyme regulator activity GO:0030234 10.06 CALM3 CALM2 CALM1
8 inward rectifier potassium channel activity GO:0005242 10.05 KCNE2 KCNH2 KCNJ5
9 voltage-gated sodium channel activity GO:0005248 10.04 SCN5A SCN4B SCN10A
10 delayed rectifier potassium channel activity GO:0005251 10.01 KCNQ1 KCNH2 KCNE2 KCNE1
11 protein phosphatase activator activity GO:0072542 9.99 CALM3 CALM2 CALM1
12 titin binding GO:0031432 9.97 CALM3 CALM2 CALM1
13 adenylate cyclase binding GO:0008179 9.95 CALM1 CALM2 CALM3
14 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.91 SCN5A SCN4B
15 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization GO:0086089 9.91 KCNQ1 KCNJ5
16 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.91 KCNQ1 KCNH2 KCNE1
17 nitric-oxide synthase binding GO:0050998 9.86 SNTA1 SCN5A CAV3 CALM3
18 monoatomic ion channel activity GO:0005216 9.85 SCN5A SCN10A KCNQ1 KCNH2 CACNA1C
19 adenylate cyclase activator activity GO:0010856 9.85 CALM1 CALM2 CALM3
20 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.85 KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
21 potassium channel activity GO:0005267 9.83 KCNQ1 KCNH2 KCNE2 KCNE1
22 N-terminal myristoylation domain binding GO:0031997 9.8 CALM3 CALM2 CALM1
23 transmembrane transporter binding GO:0044325 9.77 AKAP9 ANK2 CALM1 CALM2 CALM3 CAV3
24 sodium channel activity GO:0005272 9.73 SCN5A SCN4B SCN10A
25 voltage-gated monoatomic ion channel activity GO:0005244 9.7 SCN5A SCN4B SCN10A KCNQ1 KCNJ5 KCNH2

Sources for Long Qt Syndrome 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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