LQT1
MCID: LNG044
MIFTS: 66

Long Qt Syndrome 1 (LQT1)

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Muscle diseases, Rare diseases

Aliases & Classifications for Long Qt Syndrome 1

MalaCards integrated aliases for Long Qt Syndrome 1:

Name: Long Qt Syndrome 1 57 12 20 73 29 6 15
Romano-Ward Syndrome 57 74 20 43 58 73 29 54 6 44 71
Ward-Romano Syndrome 57 20 43 73
Lqt1 57 12 20 73
Ventricular Fibrillation with Prolonged Qt Interval 57 12 20
Rws 57 43 73
Wrs 57 43
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 58
Ward-Romano Syndrome; Wrs 57
Romano-Ward Syndrome; Rws 57
Qt Syndrome, Long, Type 1 39
Long Qt Syndrome Type 1 74
Long Qt Syndrome-1 13

Characteristics:

Orphanet epidemiological data:

58
romano-ward syndrome
Inheritance: Autosomal dominant; Prevalence: 1-5/10000 (Europe); Age of onset: All ages;

OMIM®:

57 (Updated 05-Mar-2021)
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:

31
long qt syndrome 1:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

Disease Ontology 12 DOID:0110644
OMIM® 57 192500
OMIM Phenotypic Series 57 PS192500
MeSH 44 D029597
ICD10 32 I45.8
MESH via Orphanet 45 D029597
ICD10 via Orphanet 33 I45.8
UMLS via Orphanet 72 C0035828
Orphanet 58 ORPHA101016
UMLS 71 C0035828

Summaries for Long Qt Syndrome 1

MedlinePlus Genetics : 43 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 Developmental Biology and G-Beta Gamma Signaling. The drugs Racepinephrine and Epinephrine 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

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.

GARD : 20 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 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 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 : 74 Long QT syndrome (LQTS) is a condition in which repolarization of the heart after a heartbeat is... 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 100)
# 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 LOC110121269 KCNQ1
3 long qt syndrome 12 32.1 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
4 long qt syndrome 13 32.0 SNTA1 SCN5A SCN4B KCNQ1 KCNJ5 KCNH2
5 long qt syndrome 5 32.0 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
6 long qt syndrome 9 32.0 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
7 long qt syndrome 6 32.0 SNTA1 SCN5A SCN4B KCNQ1 KCNJ5 KCNH2
8 familial long qt syndrome 31.2 SNTA1 SCN5A SCN4B LOC110121269 KCNQ1OT1 KCNQ1-AS1
9 long qt syndrome 31.2 TRDN SNTA1 SCN5A SCN4B LOC110121269 KCNQ1OT1
10 syncope 31.1 SCN5A KCNQ1 KCNH2
11 cardiac arrhythmia 30.9 SCN5A LOC110121269 KCNQ1OT1 KCNQ1-AS1 KCNQ1 KCNH2
12 jervell and lange-nielsen syndrome 1 30.9 SNTA1 SCN5A SCN4B KCNQ1OT1 KCNQ1-AS1 KCNQ1
13 short qt syndrome 30.9 SCN5A KCNQ1OT1 KCNQ1-AS1 KCNQ1 KCNH2 KCNE2
14 atrial fibrillation 30.8 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
15 cardiac conduction defect 30.7 SCN5A KCNQ1 KCNH2 DSP CACNA1C
16 familial atrial fibrillation 30.7 SNTA1 SCN5A SCN4B KCNQ1OT1 KCNQ1-AS1 KCNQ1
17 cardiac arrest 30.7 TRDN SCN5A KCNQ1 KCNH2 DSP CALM3
18 ventricular fibrillation, paroxysmal familial, 1 30.6 SCN5A KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
19 hypertrophic cardiomyopathy 30.5 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1 DSP
20 hypokalemia 30.5 KCNQ1 KCNJ5 KCNH2
21 catecholaminergic polymorphic ventricular tachycardia 30.3 TRDN SNTA1 SCN5A SCN4B KCNQ1 KCNJ5
22 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 11.6
23 ragweed sensitivity 11.0
24 torsade de pointes, short-coupled variant 10.9
25 long qt syndrome 8 10.9
26 short qt syndrome 2 10.5 KCNQ1OT1 KCNQ1-AS1 KCNQ1
27 atrial fibrillation, familial, 3 10.5 KCNQ1OT1 KCNQ1-AS1 KCNQ1
28 brugada syndrome 4 10.5 SCN5A KCNQ1 KCNH2 CACNA1C
29 long qt syndrome 14 10.5 TRDN SCN5A KCNQ1 KCNH2 CALM3 CALM1
30 sinoatrial node disease 10.5 SCN5A KCNQ1 KCNH2 CACNA1C ANK2
31 developmental and epileptic encephalopathy 14 10.5 SCN5A KCNQ1 KCNH2
32 brugada syndrome 1 10.5 SCN5A LOC110121269 KCNH2 AKAP9
33 progressive familial heart block, type ia 10.5 SCN5A DSP ANK2
34 brugada syndrome 3 10.5 KCNE2 CACNA1C ANK2
35 atrioventricular block 10.5 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1 CACNA1C
36 progressive familial heart block 10.5 SCN5A LOC110121269 KCNQ1 KCNH2 DSP CACNA1C
37 long qt syndrome 15 10.5 TRDN KCNE1 CALM3 CALM2 CALM1 CACNA1C
38 sick sinus syndrome 10.5 SNTA1 SCN5A LOC110121269 CACNA1C ANK2
39 isolated elevated serum creatine phosphokinase levels 10.5 TRDN SCN5A CAV3 CACNA1C
40 right bundle branch block 10.5 SCN5A KCNH2 CACNA1C
41 malignant hyperthermia 10.5 TRDN SCN5A KCNH2 CAV3 CACNA1C
42 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.5 TRDN SCN5A KCNQ1 KCNH2 DSP CALM1
43 deafness, autosomal recessive 98 10.5 KCNQ1 KCNE2 KCNE1
44 long qt syndrome 10 10.5 SNTA1 SCN5A SCN4B KCNQ1 KCNE2 KCNE1
45 hypokalemic periodic paralysis, type 1 10.5 TRDN SCN5A KCNE1 CACNA1C
46 neuromuscular junction disease 10.5 SCN5A KCNH2 CACNA1C
47 myasthenic syndrome, congenital, 5 10.5 TRDN SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
48 arrhythmogenic right ventricular cardiomyopathy 10.5 SCN5A KCNH2 KCNE1 DSP CACNA1C ANK2
49 ventricular tachycardia, catecholaminergic polymorphic, 4 10.5 KCNQ1 CALM1
50 left ventricular noncompaction 10.5 SNTA1 SCN5A LOC110121269 KCNQ1 KCNH2 KCNE1

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 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 prolonged qtc interval 58 31 obligate (100%) Obligate (100%) HP:0005184
2 syncope 58 31 frequent (33%) Frequent (79-30%) HP:0001279
3 abnormal t-wave 58 31 frequent (33%) Frequent (79-30%) HP:0005135
4 sinus bradycardia 58 31 frequent (33%) Frequent (79-30%) HP:0001688
5 sudden cardiac death 58 31 occasional (7.5%) Occasional (29-5%) HP:0001645
6 abnormal autonomic nervous system physiology 58 31 occasional (7.5%) Occasional (29-5%) HP:0012332
7 torsade de pointes 58 31 occasional (7.5%) Occasional (29-5%) HP:0001664
8 abnormal cardiac exercise stress test 58 31 occasional (7.5%) Occasional (29-5%) HP:0500018
9 seizure 31 occasional (7.5%) HP:0001250
10 hypokalemia 58 31 very rare (1%) Very rare (<4-1%) HP:0002900
11 abnormality of prenatal development or birth 58 31 very rare (1%) Very rare (<4-1%) HP:0001197
12 seizures 58 Occasional (29-5%)
13 hearing impairment 58 Excluded (0%)
14 prolonged qt interval 31 HP:0001657
15 abnormality of the ear 31 HP:0000598
16 ventricular arrhythmia 58 Occasional (29-5%)
17 ventricular fibrillation 31 HP:0001663

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 05-Mar-2021)

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 CACNA1C CAV3 DSP KCNH2 KCNQ1 SCN5A

Drugs & Therapeutics for Long Qt Syndrome 1

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

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 Exploring Mechanisms and Morphology of QT Interval Prolongation - An Inheritable as Well as an Inducible Phenomenon Completed NCT03291145 Beta Blockers;Spironolactone
3 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
4 Exploring the Effect of Methylphenidate and Antidepressants on Cardiac Repolarisation. Active, not recruiting NCT03642405

Search NIH Clinical Center for Long Qt Syndrome 1

Cochrane evidence based reviews: romano-ward syndrome

Genetic Tests for Long Qt Syndrome 1

Genetic tests related to Long Qt Syndrome 1:

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

Anatomical Context for Long Qt Syndrome 1

MalaCards organs/tissues related to Long Qt Syndrome 1:

40
Heart, Brain, Skeletal Muscle

Publications for Long Qt Syndrome 1

Articles related to Long Qt Syndrome 1:

(show top 50) (show all 348)
# Title Authors PMID Year
1
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 6 57 61 54
10973849 2000
2
AKAP9 is a genetic modifier of congenital long-QT syndrome type 1. 57 6
25087618 2014
3
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 6
18580685 2008
4
Prevalence of early-onset atrial fibrillation in congenital long QT syndrome. 57 6
18452873 2008
5
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. 6 57
16922724 2006
6
Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. 57 6
16414944 2005
7
Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population. 6 57
16246960 2005
8
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 6 57
15840476 2005
9
Compound mutations: a common cause of severe long-QT syndrome. 57 6
15051636 2004
10
Risk stratification in the long-QT syndrome. 57 6
12736279 2003
11
Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes. 57 6
11997281 2002
12
C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence. 6 57
10086971 1999
13
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. 6 57
10220144 1999
14
A novel mutation in KVLQT1 is the molecular basis of inherited long QT syndrome in a near-drowning patient's family. 6 57
9702906 1998
15
KVLQT1 mutations in three families with familial or sporadic long QT syndrome. 6 57
8872472 1996
16
Evidence of a long QT founder gene with varying phenotypic expression in South African families. 6 57
8818942 1996
17
Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. 6 57
8528244 1996
18
Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers. 61 6 54
18752142 2008
19
A founder mutation of the potassium channel KCNQ1 in long QT syndrome: implications for estimation of disease prevalence and molecular diagnostics. 61 54 6
11216980 2001
20
KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome. 6 61 54
9386136 1997
21
Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome. 61 6
10024302 1999
22
Genetic linkage analyses of Romano-Ward syndrome (RWS) in 13 Japanese families. 57 61
7927333 1994
23
Consanguinity, cardiac arrest, hearing impairment, and ECG abnormalities: counselling pitfalls in the Romano-Ward syndrome. 6 61
8487283 1993
24
The heart rate of Romano-Ward syndrome patients. 57 61
3728288 1986
25
The long QT syndrome; effects of drugs and left stellate ganglion block. 57 61
7102501 1982
26
A study of the inheritance pattern of Romano-Ward syndrome. Prolonged Q-T interval, syncope, and sudden death. 57 61
7055998 1982
27
Congenital prolongation of Q-T interval: a family study of three generations. 61 57
7127350 1982
28
[Familial long QT-syncope syndrome. 2 cases of Romano-Ward syndrome]. 61 57
413520 1977
29
[Romano-Ward syndrome and left stellectomy. General review apropos of a recent case]. 61 57
407877 1977
30
Hereditary prolongation of the Q-T interval. Genetic observations and management in three families with twelve affected members. 61 57
1108632 1976
31
A Precision Medicine Approach to the Rescue of Function on Malignant Calmodulinopathic Long-QT Syndrome. 6
27765793 2017
32
Novel CPVT-Associated Calmodulin Mutation in CALM3 (CALM3-A103V) Activates Arrhythmogenic Ca Waves and Sparks. 6
27516456 2016
33
Spectrum and Prevalence of CALM1-, CALM2-, and CALM3-Encoded Calmodulin Variants in Long QT Syndrome and Functional Characterization of a Novel Long QT Syndrome-Associated Calmodulin Missense Variant, E141G. 6
26969752 2016
34
Novel calmodulin mutations associated with congenital arrhythmia susceptibility. 6
24917665 2014
35
A Kir3.4 mutation causes Andersen-Tawil syndrome by an inhibitory effect on Kir2.1. 6
24574546 2014
36
A mutation in CALM1 encoding calmodulin in familial idiopathic ventricular fibrillation in childhood and adolescence. 6
24076290 2014
37
Long QT genetics manifesting as atrial fibrillation. 6
23851063 2013
38
A KCNQ1 mutation causes a high penetrance for familial atrial fibrillation. 6
23350853 2013
39
Calmodulin mutations associated with recurrent cardiac arrest in infants. 6
23388215 2013
40
Modelling the long QT syndrome with induced pluripotent stem cells. 6
21240260 2011
41
Patient-specific induced pluripotent stem-cell models for long-QT syndrome. 6
20660394 2010
42
Identification of a Kir3.4 mutation in congenital long QT syndrome. 6
20560207 2010
43
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. 6
19716085 2009
44
High efficacy of beta-blockers in long-QT syndrome type 1: contribution of noncompliance and QT-prolonging drugs to the occurrence of beta-blocker treatment "failures". 57
19118258 2009
45
Identification of the gene causing long QT syndrome in an Israeli family. 6
19070294 2008
46
alpha-1-syntrophin mutation and the long-QT syndrome: a disease of sodium channel disruption. 6
19684871 2008
47
Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex. 6
18591664 2008
48
Fever-induced QTc prolongation and ventricular arrhythmias in individuals with type 2 congenital long QT syndrome. 6
18551196 2008
49
The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome. 6
18451998 2008
50
Mutation of an A-kinase-anchoring protein causes long-QT syndrome. 6
18093912 2007

Variations for Long Qt Syndrome 1

ClinVar genetic disease variations for Long Qt Syndrome 1:

6 (show top 50) (show all 2063)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KCNE2 NM_172201.1(KCNE2):c.161T>C (p.Met54Thr) SNV Benign, risk factor 6053 rs74315447 21:35742938-35742938 21:34370639-34370639
2 KCNH2 NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) SNV Conflicting interpretations of pathogenicity, risk factor 67509 rs36210422 7:150655537-150655537 7:150958449-150958449
3 KCNE1 NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) SNV Likely benign, risk factor 13479 rs1805128 21:35821680-35821680 21:34449382-34449382
4 KCNH2 NM_172056.2(KCNH2):c.1468G>A (p.Ala490Thr) SNV Pathogenic 14430 rs28928905 7:150649602-150649602 7:150952514-150952514
5 KCNQ1 NM_000218.3(KCNQ1):c.488del (p.Leu163fs) Deletion Pathogenic 53050 rs397508112 11:2591868-2591868 11:2570638-2570638
6 SCN5A NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val) SNV Pathogenic 67838 rs199473220 3:38603913-38603913 3:38562422-38562422
7 SCN5A NM_198056.2(SCN5A):c.664C>T (p.Arg222Ter) SNV Pathogenic 201438 rs794728849 3:38655273-38655273 3:38613782-38613782
8 SCN5A NM_198056.2(SCN5A):c.612-229T>G SNV Pathogenic 587531 rs765669597 3:38655554-38655554 3:38614063-38614063
9 KCNH2 NM_000238.3(KCNH2):c.2705del (p.Pro902fs) Deletion Pathogenic 598783 rs1563148264 7:150644954-150644954 7:150947866-150947866
10 KCNH2 NM_172056.2(KCNH2):c.1814C>T (p.Pro605Leu) SNV Pathogenic 67284 rs199472938 7:150648667-150648667 7:150951579-150951579
11 KCNQ1 NM_181798.1(KCNQ1):c.415del (p.Leu139fs) Deletion Pathogenic 53107 rs397508125 11:2594089-2594089 11:2572859-2572859
12 KCNQ1-AS1 NM_181798.1(KCNQ1):c.1495G>A (p.Gly499Ser) SNV Pathogenic 53022 rs199472821 11:2869078-2869078 11:2847848-2847848
13 KCNQ1 NM_181798.1(KCNQ1):c.311G>A (p.Arg104His) SNV Pathogenic 53087 rs199472709 11:2593251-2593251 11:2572021-2572021
14 KCNQ1 NM_181798.1(KCNQ1):c.424G>A (p.Gly142Ser) SNV Pathogenic 3144 rs120074193 11:2594100-2594100 11:2572870-2572870
15 KCNQ1 NM_181798.1(KCNQ1):c.704A>G (p.Lys235Arg) SNV Pathogenic 52953 rs12720458 11:2606494-2606494 11:2585264-2585264
16 KCNQ1 NM_181798.1(KCNQ1):c.1234C>T (p.Arg412Trp) SNV Pathogenic 52998 rs199472795 11:2797214-2797214 11:2775984-2775984
17 SCN5A NM_198056.2(SCN5A):c.5872C>T (p.Arg1958Ter) SNV Pathogenic 201546 rs757532106 3:38591991-38591991 3:38550500-38550500
18 SCN5A NM_198056.2(SCN5A):c.1099C>T (p.Arg367Cys) SNV Pathogenic 67633 rs199473097 3:38648201-38648201 3:38606710-38606710
19 SCN5A NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) SNV Pathogenic 39444 rs45546039 3:38655272-38655272 3:38613781-38613781
20 KCNH2 NM_172056.2(KCNH2):c.2104C>T (p.Gln702Ter) SNV Pathogenic 200407 rs794728382 7:150648050-150648050 7:150950962-150950962
21 KCNH2 NM_172056.2(KCNH2):c.1886A>G (p.Asn629Ser) SNV Pathogenic 67315 rs199472957 7:150648595-150648595 7:150951507-150951507
22 CALM2 NM_001743.6(CALM2):c.414C>G (p.Asn138Lys) SNV Pathogenic 488476 rs1553431702 2:47388869-47388869 2:47161730-47161730
23 SCN5A NM_198056.2(SCN5A):c.3823G>A (p.Asp1275Asn) SNV Pathogenic 9401 rs137854618 3:38607917-38607917 3:38566426-38566426
24 SCN5A NM_198056.2(SCN5A):c.5302A>G (p.Ile1768Val) SNV Pathogenic 67980 rs199473311 3:38592561-38592561 3:38551070-38551070
25 SCN5A NM_000335.4(SCN5A):c.1604G>A (p.Arg535Gln) SNV Pathogenic 67672 rs199473121 3:38645489-38645489 3:38603998-38603998
26 KCNH2 NM_172056.2(KCNH2):c.678del (p.Ala228fs) Deletion Pathogenic 200783 rs794728496 7:150655385-150655385 7:150958297-150958297
27 KCNQ1 NM_181798.1(KCNQ1):c.1391G>A (p.Arg464His) SNV Pathogenic 53017 rs199472814 11:2799245-2799245 11:2778015-2778015
28 KCNH2 NM_172056.2(KCNH2):c.2400T>A (p.Gly800=) SNV Pathogenic 560686 rs1563152963 7:150647254-150647254 7:150950166-150950166
29 KCNH2 NM_172056.2(KCNH2):c.1898A>G (p.Asn633Ser) SNV Pathogenic 67323 rs199472961 7:150648583-150648583 7:150951495-150951495
30 KCNH2 NM_172056.2(KCNH2):c.1714G>A (p.Gly572Ser) SNV Pathogenic 67248 rs9333649 7:150648767-150648767 7:150951679-150951679
31 KCNH2 NM_172056.2(KCNH2):c.1848C>G (p.Tyr616Ter) SNV Pathogenic 560696 rs1563156868 7:150648633-150648633 7:150951545-150951545
32 KCNQ1 NM_181798.1(KCNQ1):c.1304+1G>A SNV Pathogenic 200851 rs794728531 11:2797285-2797285 11:2776055-2776055
33 KCNH2 NM_172056.2(KCNH2):c.1886A>G (p.Asn629Ser) SNV Pathogenic 67315 rs199472957 7:150648595-150648595 7:150951507-150951507
34 KCNQ1 NM_181798.1(KCNQ1):c.188G>T (p.Arg63Leu) SNV Pathogenic 67084 rs120074178 11:2591949-2591949 11:2570719-2570719
35 KCNQ1 NM_181798.1(KCNQ1):c.533G>T (p.Trp178Leu) SNV Pathogenic 200824 rs120074186 11:2594209-2594209 11:2572979-2572979
36 KCNQ1 NM_181798.1(KCNQ1):c.96+1G>A SNV Pathogenic 200874 rs762814879 11:2549249-2549249 11:2528019-2528019
37 KCNQ1 NM_181798.1(KCNQ1):c.685C>T (p.Gln229Ter) SNV Pathogenic 52946 rs397508072 11:2606475-2606475 11:2585245-2585245
38 SCN5A NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) SNV Pathogenic 39444 rs45546039 3:38655272-38655272 3:38613781-38613781
39 CALM3 NM_005184.4(CALM3):c.286G>C (p.Asp96His) SNV Pathogenic 409870 rs1060502607 19:47112103-47112103 19:46608846-46608846
40 CALM3 NM_005184.4(CALM3):c.281A>C (p.Asp94Ala) SNV Pathogenic 409871 rs1060502608 19:47111841-47111841 19:46608584-46608584
41 KCNQ1 NM_181798.1(KCNQ1):c.132C>A (p.Tyr44Ter) SNV Pathogenic 265209 rs139042529 11:2591893-2591893 11:2570663-2570663
42 KCNH2 NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser) SNV Pathogenic 67261 rs199473428 7:150648731-150648731 7:150951643-150951643
43 SCN5A NM_198056.2(SCN5A):c.4867C>T (p.Arg1623Ter) SNV Pathogenic 9374 rs137854613 3:38592996-38592996 3:38551505-38551505
44 KCNQ1 NM_000218.3(KCNQ1):c.19C>T (p.Pro7Ser) SNV Pathogenic 53028 rs199473443 11:2466347-2466347 11:2445117-2445117
45 KCNH2 NM_000238.3(KCNH2):c.2935_2939del (p.Lys979fs) Deletion Pathogenic 431036 rs1131692327 7:150644720-150644724 7:150947632-150947636
46 KCNQ1 NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp) SNV Pathogenic 52955 rs199473411 11:2606505-2606505 11:2585275-2585275
47 KCNH2 NM_000238.4(KCNH2):c.2966_2967insTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGGCGCCTTCTCAGGAGTGTCCAACATTTTCAGCTTCTGGGGGGACAGTCGGGGCCGCCAGTACCAGGAGCTCCCTCGATGCCCCGCCCCCACCCCCAGCCTCCTCAACATCCCCCTCTCCAGCCCGTGGGGAGCCCCTGATGGAGGACTGCGAGAAGAGCAGCGACACTTGCAACCCCCTGTCAGGTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGG (p.Ala990_Phe991insIleProGlyAspGlyArgAlaArgGluAspArgAlaTrpGlnArgTrpCysValTyrProAlaHisProAlaLeuLeuSerGlyCysArgArgLeuLeuArgSerValGlnHisPheGlnLeuLeuGlyGlyGlnSerGlyProProValProGlyAlaProSerMetProArgProHisProGlnProProGlnHisProProLeuGlnProValGlySerProTer) Duplication Pathogenic 431374 7:150644479-150644753 7:150947389-150947390
48 KCNQ1 NM_181798.1(KCNQ1):c.944del (p.His315fs) Deletion Pathogenic 431370 rs1135401944 11:2610016-2610016 11:2588786-2588786
49 KCNQ1 NM_181798.1(KCNQ1):c.651G>A (p.Ala217=) SNV Pathogenic 3135 rs1800171 11:2604775-2604775 11:2583545-2583545
50 KCNH2 NM_172056.2(KCNH2):c.2038del (p.Val680fs) Deletion Pathogenic 427944 rs1554425498 7:150648116-150648116 7:150951028-150951028

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

73 (show top 50) (show all 122)
# 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 top 50) (show all 63)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.43 SCN5A SCN4B DSP CALM3 CALM2 CALM1
2
Show member pathways
12.95 SCN5A SCN4B KCNJ5 CALM3 CALM2 CALM1
3
Show member pathways
12.91 KCNQ1 KCNJ5 KCNH2 CALM3 CALM2 CALM1
4
Show member pathways
12.89 KCNJ5 CALM3 CALM2 CALM1 CACNA1C
5
Show member pathways
12.82 CAV3 CALM3 CALM2 CALM1 CACNA1C
6
Show member pathways
12.71 KCNQ1 KCNJ5 CALM3 CALM2 CALM1 CACNA1C
7
Show member pathways
12.67 SNTA1 CALM3 CALM2 CALM1 CACNA1C
8
Show member pathways
12.66 KCNJ5 CALM3 CALM2 CALM1 CACNA1C
9
Show member pathways
12.62 CALM3 CALM2 CALM1 CACNA1C
10
Show member pathways
12.54 KCNJ5 CALM3 CALM2 CALM1 CACNA1C
11
Show member pathways
12.53 CALM3 CALM2 CALM1 CACNA1C
12
Show member pathways
12.52 TRDN CALM3 CALM2 CALM1
13
Show member pathways
12.49 KCNJ5 CALM3 CALM2 CALM1 CACNA1C
14
Show member pathways
12.44 KCNQ1 KCNE2 CALM3 CALM2 CALM1
15
Show member pathways
12.42 SCN5A SCN4B KCNQ1 KCNE1 CALM3 CALM2
16 12.33 CALM3 CALM2 CALM1 CACNA1C
17 12.33 TRDN CALM3 CALM2 CALM1 CACNA1C
18
Show member pathways
12.31 CALM3 CALM2 CALM1 CACNA1C
19 12.31 KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1 CALM3
20
Show member pathways
12.23 CALM3 CALM2 CALM1 AKAP9
21
Show member pathways
12.16 TRDN SCN5A SCN4B KCNQ1 KCNH2 KCNE2
22 12.14 CALM3 CALM2 CALM1 CACNA1C
23 12.1 CAV3 CALM3 CALM2 CALM1
24 12.05 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 CAV3
25
Show member pathways
12.02 CALM3 CALM2 CALM1
26
Show member pathways
12.01 CALM3 CALM2 CALM1 CACNA1C
27
Show member pathways
11.99 CALM3 CALM2 CALM1 CACNA1C
28
Show member pathways
11.95 CALM3 CALM2 CALM1
29 11.93 CALM3 CALM2 CALM1
30
Show member pathways
11.92 CALM3 CALM2 CALM1
31
Show member pathways
11.91 CALM3 CALM2 CALM1 CACNA1C
32 11.9 CALM3 CALM2 CALM1
33 11.88 CALM3 CALM2 CALM1
34
Show member pathways
11.88 CALM3 CALM2 CALM1
35
Show member pathways
11.85 CALM3 CALM2 CALM1
36
Show member pathways
11.85 CALM3 CALM2 CALM1
37
Show member pathways
11.84 CALM3 CALM2 CALM1
38
Show member pathways
11.78 CALM3 CALM2 CALM1
39
Show member pathways
11.77 CALM3 CALM2 CALM1
40 11.76 CALM3 CALM2 CALM1
41
Show member pathways
11.75 CALM3 CALM2 CALM1
42 11.74 CALM3 CALM2 CALM1
43
Show member pathways
11.73 SCN5A SCN4B KCNQ1 KCNE2 KCNE1 CALM3
44
Show member pathways
11.69 CALM3 CALM2 CALM1
45 11.65 CALM3 CALM2 CALM1
46
Show member pathways
11.64 CALM3 CALM2 CALM1
47 11.6 CALM3 CALM2 CALM1 CACNA1C
48 11.55 CALM3 CALM2 CALM1
49 11.4 SCN5A SCN4B KCNQ1 KCNJ5 KCNH2 KCNE2
50 11.38 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 plasma membrane GO:0005886 10.16 TRDN SNTA1 SCN5A SCN4B KCNQ1 KCNJ5
2 cytoskeleton GO:0005856 10.09 SNTA1 DSP CALM3 CALM2 CALM1 ANK2
3 cell surface GO:0009986 9.97 SCN5A KCNH2 KCNE2 KCNE1 CAV3
4 membrane raft GO:0045121 9.84 KCNQ1 KCNE1 CAV3 ANK2
5 vesicle GO:0031982 9.8 CAV3 CALM3 CALM2 CALM1
6 Z disc GO:0030018 9.77 SCN5A KCNE1 CAV3 CACNA1C ANK2
7 sarcolemma GO:0042383 9.72 SNTA1 SCN5A CAV3 CACNA1C ANK2
8 lateral plasma membrane GO:0016328 9.7 SNTA1 SCN5A KCNQ1
9 sarcomere GO:0030017 9.69 CALM3 CALM2 CALM1
10 spindle microtubule GO:0005876 9.65 CALM3 CALM2 CALM1
11 myelin sheath GO:0043209 9.63 CALM3 CALM2 CALM1
12 calcium channel complex GO:0034704 9.61 CALM3 CALM2 CALM1
13 catalytic complex GO:1902494 9.58 CALM3 CALM2 CALM1
14 dystrophin-associated glycoprotein complex GO:0016010 9.57 SNTA1 CAV3
15 voltage-gated sodium channel complex GO:0001518 9.56 SCN5A SCN4B
16 intercalated disc GO:0014704 9.55 SCN5A SCN4B DSP CAV3 ANK2
17 T-tubule GO:0030315 9.35 SCN5A KCNJ5 CAV3 CACNA1C ANK2
18 voltage-gated potassium channel complex GO:0008076 9.28 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 77)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10.19 SCN5A SCN4B KCNQ1 KCNJ5 KCNH2 KCNE2
2 ion transmembrane transport GO:0034220 10.05 TRDN SCN5A KCNJ5 KCNH2
3 potassium ion transport GO:0006813 10.02 KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
4 potassium ion transmembrane transport GO:0071805 10.02 KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
5 G2/M transition of mitotic cell cycle GO:0000086 9.99 CALM3 CALM2 CALM1 AKAP9
6 muscle contraction GO:0006936 9.98 TRDN SNTA1 CAV3 CALM1
7 regulation of ion transmembrane transport GO:0034765 9.97 SCN5A SCN4B KCNQ1 KCNJ5 KCNH2 KCNE2
8 calcium-mediated signaling GO:0019722 9.92 CALM3 CALM2 CALM1
9 cellular response to drug GO:0035690 9.91 KCNQ1 KCNH2 KCNE2
10 response to calcium ion GO:0051592 9.9 CALM3 CALM2 CALM1
11 cellular response to cAMP GO:0071320 9.9 KCNQ1 KCNE1 AKAP9
12 cardiac muscle contraction GO:0060048 9.9 SCN5A SCN4B KCNQ1 KCNH2
13 positive regulation of protein serine/threonine kinase activity GO:0071902 9.89 CALM3 CALM2 CALM1
14 substantia nigra development GO:0021762 9.88 CALM3 CALM2 CALM1
15 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.88 CALM3 CALM2 CALM1 CACNA1C ANK2
16 potassium ion import across plasma membrane GO:1990573 9.87 KCNJ5 KCNH2 KCNE2
17 regulation of cytokinesis GO:0032465 9.87 CALM3 CALM2 CALM1
18 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.87 TRDN CALM3 CALM2 CALM1
19 cardiac conduction GO:0061337 9.87 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1 CACNA1C
20 positive regulation of DNA binding GO:0043388 9.86 CALM3 CALM2 CALM1
21 potassium ion export across plasma membrane GO:0097623 9.86 KCNQ1 KCNH2 KCNE2 KCNE1
22 positive regulation of peptidyl-threonine phosphorylation GO:0010800 9.85 CALM3 CALM2 CALM1
23 positive regulation of protein dephosphorylation GO:0035307 9.85 CALM3 CALM2 CALM1
24 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.85 TRDN CALM3 CALM2 CALM1
25 regulation of cardiac muscle contraction GO:0055117 9.85 CAV3 CALM3 CALM2 CALM1 ANK2
26 positive regulation of protein autophosphorylation GO:0031954 9.84 CALM3 CALM2 CALM1
27 membrane repolarization GO:0086009 9.84 KCNQ1 KCNH2 KCNE2 KCNE1
28 negative regulation of peptidyl-threonine phosphorylation GO:0010801 9.83 CALM3 CALM2 CALM1
29 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.83 CALM3 CALM2 CALM1
30 regulation of potassium ion transmembrane transport GO:1901379 9.83 KCNH2 KCNE2 KCNE1
31 regulation of membrane repolarization GO:0060306 9.83 KCNQ1 KCNH2 KCNE2 AKAP9
32 cardiac muscle cell action potential involved in contraction GO:0086002 9.83 SCN5A SCN4B KCNE2 KCNE1 CACNA1C
33 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.82 KCNQ1 KCNE2 KCNE1
34 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.82 CALM3 CALM2 CALM1
35 positive regulation of potassium ion transmembrane transport GO:1901381 9.81 KCNQ1 KCNH2 KCNE1
36 detection of calcium ion GO:0005513 9.81 CALM3 CALM2 CALM1
37 membrane repolarization during action potential GO:0086011 9.81 KCNQ1 KCNH2 KCNE2 KCNE1
38 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.8 SCN5A SCN4B CACNA1C
39 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 9.8 TRDN CALM3 CALM2 CALM1
40 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.8 KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
41 regulation of heart rate GO:0002027 9.8 SNTA1 SCN5A CAV3 CALM3 CALM2 CALM1
42 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.79 KCNQ1 KCNH2 KCNE1
43 atrial cardiac muscle cell action potential GO:0086014 9.78 SCN5A KCNQ1 ANK2
44 regulation of cell communication by electrical coupling involved in cardiac conduction GO:1901844 9.77 CALM3 CALM2 CALM1
45 ventricular cardiac muscle cell action potential GO:0086005 9.76 SNTA1 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
46 regulation of sodium ion transmembrane transporter activity GO:2000649 9.75 SCN4B CAV3
47 response to corticosterone GO:0051412 9.75 CALM3 CALM1
48 regulation of release of sequestered calcium ion into cytosol GO:0051279 9.75 TRDN ANK2
49 membrane depolarization during action potential GO:0086010 9.75 SCN5A KCNH2
50 positive regulation of sodium ion transport GO:0010765 9.75 SCN5A SCN4B

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 10.03 SCN5A CALM3 CALM2 CALM1 ANK2
2 protein domain specific binding GO:0019904 9.94 SCN5A CALM3 CALM2 CALM1
3 calmodulin binding GO:0005516 9.92 SNTA1 SCN5A KCNQ1 CACNA1C
4 ion channel activity GO:0005216 9.92 SCN5A KCNQ1 KCNH2 CACNA1C
5 potassium channel activity GO:0005267 9.84 KCNQ1 KCNH2 KCNE2 KCNE1
6 voltage-gated potassium channel activity GO:0005249 9.83 KCNQ1 KCNH2 KCNE2 KCNE1
7 potassium channel regulator activity GO:0015459 9.78 KCNE2 KCNE1 AKAP9
8 scaffold protein binding GO:0097110 9.78 SCN5A KCNQ1 KCNH2 DSP
9 disordered domain specific binding GO:0097718 9.76 CALM3 CALM2 CALM1
10 sodium channel regulator activity GO:0017080 9.75 SNTA1 SCN4B CAV3
11 protein serine/threonine kinase activator activity GO:0043539 9.74 CALM3 CALM2 CALM1
12 enzyme regulator activity GO:0030234 9.73 CALM3 CALM2 CALM1
13 inward rectifier potassium channel activity GO:0005242 9.72 KCNJ5 KCNH2 KCNE2
14 delayed rectifier potassium channel activity GO:0005251 9.71 KCNQ1 KCNH2 KCNE2 KCNE1
15 titin binding GO:0031432 9.69 CALM3 CALM2 CALM1
16 adenylate cyclase binding GO:0008179 9.67 CALM3 CALM2 CALM1
17 nitric-oxide synthase binding GO:0050998 9.65 SNTA1 SCN5A CAV3 CALM3 CALM1
18 calcium channel inhibitor activity GO:0019855 9.64 CALM2 CALM1
19 nitric-oxide synthase regulator activity GO:0030235 9.63 CALM3 CALM1
20 protein phosphatase activator activity GO:0072542 9.63 CALM3 CALM2 CALM1
21 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.61 SCN5A SCN4B
22 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.61 KCNQ1 KCNH2 KCNE1
23 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization GO:0086089 9.6 KCNQ1 KCNJ5
24 type 3 metabotropic glutamate receptor binding GO:0031800 9.59 CALM3 CALM1
25 voltage-gated ion channel activity GO:0005244 9.56 SCN5A SCN4B KCNQ1 KCNJ5 KCNH2 KCNE2
26 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.55 KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
27 adenylate cyclase activator activity GO:0010856 9.54 CALM3 CALM2 CALM1
28 N-terminal myristoylation domain binding GO:0031997 9.5 CALM3 CALM2 CALM1
29 ion channel binding GO:0044325 9.44 TRDN SNTA1 SCN5A SCN4B KCNQ1 KCNE2

Sources for Long Qt Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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