LQT1
MCID: LNG044
MIFTS: 66

Long Qt Syndrome 1 (LQT1)

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

Aliases & Classifications for Long Qt Syndrome 1

MalaCards integrated aliases for Long Qt Syndrome 1:

Name: Long Qt Syndrome 1 56 12 52 73 29 6 15
Romano-Ward Syndrome 56 74 52 25 58 73 29 54 6 71
Ward-Romano Syndrome 56 52 25 73
Lqt1 56 12 52 73
Ventricular Fibrillation with Prolonged Qt Interval 56 12 52
Rws 56 25 73
Wrs 56 25
Long Qt Syndrome 1, Acquired, Susceptibility to 56
Acquired Susceptibility to Long Qt Syndrome 1 6
Long Qt Syndrome 1, Acquired 56
Romano-Ward Long Qt Syndrome 58
Ward-Romano Syndrome; Wrs 56
Romano-Ward Syndrome; Rws 56
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:

56
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 56 192500
OMIM Phenotypic Series 56 PS192500
MeSH 43 D029597
ICD10 32 I45.8
MESH via Orphanet 44 D029597
ICD10 via Orphanet 33 I45.8
UMLS via Orphanet 72 C0035828
Orphanet 58 ORPHA101016
UMLS 71 C0035828

Summaries for Long Qt Syndrome 1

Genetics Home Reference : 25 Romano-Ward syndrome is a condition that causes a disruption of the heart's normal rhythm (arrhythmia). This disorder is a form of long QT syndrome, which is a heart condition that causes the heart (cardiac) muscle to take longer than usual to recharge between beats. The term "long QT" refers to a specific pattern of heart activity that is detected with an electrocardiogram (ECG or EKG), which is a test used to measure the electrical activity of the heart. In people with long QT syndrome, the part of the heartbeat known as the QT interval is abnormally long. Abnormalities in the time it takes to recharge the heart lead to abnormal heart rhythms. 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 3 and long qt syndrome 6, 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 Epinephrine and Racepinephrine have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and bone, 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.

NIH Rare Diseases : 52 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 : 56 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 : 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 which affects repolarization of the heart after a heartbeat. It... 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 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 178)
# Related Disease Score Top Affiliating Genes
1 long qt syndrome 3 33.2 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
2 long qt syndrome 6 32.7 SCN5A SCN4B KCNQ1 KCNH2 KCNE2 KCNE1
3 long qt syndrome 9 32.6 SNTA1 SCN5A SCN4B KCNQ1 KCNE2 KCNE1
4 long qt syndrome 5 32.6 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
5 long qt syndrome 12 32.6 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
6 long qt syndrome 13 32.6 SNTA1 SCN5A SCN4B KCNQ1 KCNJ5 KCNH2
7 familial long qt syndrome 32.1 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
8 cardiac conduction defect 31.7 SCN5A KCNQ1 KCNH2 DSP
9 cardiac arrhythmia 31.5 SCN5A PKP2 KCNQ1 KCNH2 KCNE2 KCNE1
10 cardiac arrest 31.2 TRDN SCN5A NOS1AP KCNQ1 KCNH2 DSP
11 ventricular fibrillation, paroxysmal familial, 1 31.2 SCN5A KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
12 syncope 31.1 SCN5A KCNQ1 KCNH2
13 hypokalemia 31.1 KCNQ1 KCNJ5 KCNH2
14 atrial standstill 1 30.9 SCN5A PKP2 DSP CAV3
15 long qt syndrome 30.9 TRDN SNTA1 SCN5A SCN4B PKP2 NOS1AP
16 atrial fibrillation 30.9 SCN5A SCN4B KCNQ1 KCNH2 KCNE2 KCNE1
17 jervell and lange-nielsen syndrome 1 30.7 SNTA1 SCN5A SCN4B KCNQ1OT1 KCNQ1 KCNH2
18 short qt syndrome 30.7 SNTA1 SCN5A SCN4B NOS1AP KCNQ1OT1 KCNQ1
19 familial atrial fibrillation 30.7 SCN5A SCN4B SCN10A PKP2 KCNQ1OT1 KCNQ1
20 catecholaminergic polymorphic ventricular tachycardia 30.6 TRDN SNTA1 SCN5A SCN4B PKP2 NOS1AP
21 long qt syndrome 2 30.5 TRDN SNTA1 SCN5A SCN4B NOS1AP KCNQ1
22 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 12.2
23 blood group--wright antigen 11.9
24 wiedemann-rautenstrauch syndrome 11.8
25 blood group, diego system 11.5
26 ragweed sensitivity 11.4
27 torsade de pointes, short-coupled variant 11.2
28 long qt syndrome 8 11.2
29 brugada syndrome 4 10.7 SCN5A KCNQ1 KCNH2
30 familial short qt syndrome 10.7 KCNQ1 KCNH2
31 sinoatrial node disease 10.7 SCN5A KCNQ1 KCNH2 KCNE2 ANK2
32 leopard syndrome 10.7 PKP2 KCNQ1 KCNH2 DSP
33 ventricular tachycardia, catecholaminergic polymorphic, 4 10.7 KCNQ1 CALM1
34 arrhythmogenic right ventricular dysplasia, familial, 2 10.7 TRDN PKP2 DSP
35 brugada syndrome 1 10.7 SCN5A SCN10A KCNH2 AKAP9
36 myasthenic syndrome, congenital, 5 10.7 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
37 left bundle branch hemiblock 10.7 SCN5A PKP2 DSP
38 arrhythmogenic right ventricular dysplasia, familial, 3 10.7 PKP2 DSP
39 atrioventricular block 10.7 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
40 right bundle branch block 10.7 SCN5A PKP2 KCNH2
41 progressive familial heart block 10.7 SCN5A KCNQ1 DSP
42 wolff-parkinson-white syndrome 10.7 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
43 hypokalemic periodic paralysis, type 1 10.7 TRDN SCN5A KCNE1 CAV3
44 long qt syndrome 15 10.7 TRDN KCNE1 CALM3 CALM2 CALM1
45 arrhythmogenic right ventricular dysplasia, familial, 6 10.7 PKP2 DSP
46 arrhythmogenic right ventricular dysplasia, familial, 4 10.7 PKP2 DSP
47 sick sinus syndrome 10.7 SNTA1 SCN5A SCN10A ANK2
48 erythromelalgia 10.7 SCN5A SCN4B SCN10A
49 long qt syndrome 14 10.7 TRDN KCNE1 CALM3 CALM1 ANK2
50 sudden infant death syndrome 10.7 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 CAV3

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 16)
# 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 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
6 sudden cardiac death 58 31 occasional (7.5%) Occasional (29-5%) HP:0001645
7 abnormal autonomic nervous system physiology 58 31 occasional (7.5%) Occasional (29-5%) HP:0012332
8 torsade de pointes 58 31 occasional (7.5%) Occasional (29-5%) HP:0001664
9 abnormal cardiac exercise stress test 58 31 occasional (7.5%) Occasional (29-5%) HP:0500018
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 hearing impairment 58 Excluded (0%)
13 prolonged qt interval 31 HP:0001657
14 abnormality of the ear 31 HP:0000598
15 ventricular fibrillation 31 HP:0001663
16 ventricular arrhythmia 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

56
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

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.23 CAV3 DSP KCNH2 KCNQ1 PKP2 SCN5A

Drugs & Therapeutics for Long Qt Syndrome 1

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

(show all 42)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Epinephrine Approved, Vet_approved 51-43-4 5816
2
Racepinephrine Approved 329-65-7 838
3
Spironolactone Approved 1952-01-7, 52-01-7 5833
4
Propranolol Approved, Investigational 525-66-6 4946
5
Dopamine Approved 51-61-6, 62-31-7 681
6
Methylphenidate Approved, Investigational 113-45-1 4158
7
carbamide peroxide Approved 124-43-6
8
Citalopram Approved 59729-33-8 2771
9
Aspartic acid Approved, Nutraceutical 56-84-8 5960
10
Calcium Approved, Nutraceutical 7440-70-2 271
11 Epinephryl borate
12 Adrenergic Agonists
13 Sympathomimetics
14 Anti-Asthmatic Agents
15 Vasoconstrictor Agents
16 Adrenergic beta-Agonists
17 Respiratory System Agents
18 Autonomic Agents
19 Mydriatics
20 Bronchodilator Agents
21 Adrenergic Antagonists
22 Natriuretic Agents
23 Adrenergic beta-Antagonists
24 Hormone Antagonists
25 Mineralocorticoids
26 Mineralocorticoid Receptor Antagonists
27 Adrenergic Agents
28 Diuretics, Potassium Sparing
29 Hormones
30 diuretics
31 Anti-Arrhythmia Agents
32 Antihypertensive Agents
33 Vasodilator Agents
34 Neurotransmitter Agents
35 Dopamine Uptake Inhibitors
36 Central Nervous System Stimulants
37 Dopamine Agents
38 Natriuretic Peptide, Brain
39 N-Methylaspartate
40 Calcium, Dietary
41 Antidepressive Agents
42
L-Alanine Nutraceutical 56-41-7 5950

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 Effect of Beta-blocker Therapy on QTc Response in Exercise and Recovery in Normal Subjects Completed NCT00588965 Placebo;Propranolol LA
4 Long QT Syndrome-Population Genetics and Cardiac Studies Completed NCT00005176
5 CIQTP Prolongation : Role and Mechanism in Sudden Cardiac Death Recruiting NCT03387072
6 Exploring the Effect of Methylphenidate and Antidepressants on Cardiac Repolarisation. Active, not recruiting NCT03642405
7 Prevalence of Congenital Long QT Syndrome and Acquired QT Prolongation in a Hospital Cohort Active, not recruiting NCT03544918

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 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, Testes, Bone, Brain, Skeletal Muscle, Liver, Lung

Publications for Long Qt Syndrome 1

Articles related to Long Qt Syndrome 1:

(show top 50) (show all 344)
# Title Authors PMID Year
1
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 54 61 56 6
10973849 2000
2
AKAP9 is a genetic modifier of congenital long-QT syndrome type 1. 56 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. 56 6
18580685 2008
4
Prevalence of early-onset atrial fibrillation in congenital long QT syndrome. 56 6
18452873 2008
5
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. 56 6
16922724 2006
6
Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. 56 6
16414944 2005
7
Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population. 56 6
16246960 2005
8
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 56 6
15840476 2005
9
Compound mutations: a common cause of severe long-QT syndrome. 56 6
15051636 2004
10
Risk stratification in the long-QT syndrome. 56 6
12736279 2003
11
Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes. 56 6
11997281 2002
12
C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence. 56 6
10086971 1999
13
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. 56 6
10220144 1999
14
A novel mutation in KVLQT1 is the molecular basis of inherited long QT syndrome in a near-drowning patient's family. 56 6
9702906 1998
15
KVLQT1 mutations in three families with familial or sporadic long QT syndrome. 56 6
8872472 1996
16
Evidence of a long QT founder gene with varying phenotypic expression in South African families. 56 6
8818942 1996
17
Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. 56 6
8528244 1996
18
A founder mutation of the potassium channel KCNQ1 in long QT syndrome: implications for estimation of disease prevalence and molecular diagnostics. 54 61 6
11216980 2001
19
KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome. 54 61 6
9386136 1997
20
Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome. 61 6
10024302 1999
21
Genetic linkage analyses of Romano-Ward syndrome (RWS) in 13 Japanese families. 61 56
7927333 1994
22
Consanguinity, cardiac arrest, hearing impairment, and ECG abnormalities: counselling pitfalls in the Romano-Ward syndrome. 61 6
8487283 1993
23
The heart rate of Romano-Ward syndrome patients. 61 56
3728288 1986
24
The long QT syndrome; effects of drugs and left stellate ganglion block. 61 56
7102501 1982
25
A study of the inheritance pattern of Romano-Ward syndrome. Prolonged Q-T interval, syncope, and sudden death. 61 56
7055998 1982
26
Congenital prolongation of Q-T interval: a family study of three generations. 61 56
7127350 1982
27
[Familial long QT-syncope syndrome. 2 cases of Romano-Ward syndrome]. 61 56
413520 1977
28
[Romano-Ward syndrome and left stellectomy. General review apropos of a recent case]. 61 56
407877 1977
29
Hereditary prolongation of the Q-T interval. Genetic observations and management in three families with twelve affected members. 61 56
1108632 1976
30
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 6
27854360 2017
31
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 6
25356965 2015
32
Novel calmodulin mutations associated with congenital arrhythmia susceptibility. 6
24917665 2014
33
A Kir3.4 mutation causes Andersen-Tawil syndrome by an inhibitory effect on Kir2.1. 6
24574546 2014
34
A mutation in CALM1 encoding calmodulin in familial idiopathic ventricular fibrillation in childhood and adolescence. 6
24076290 2014
35
Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. 6
23994779 2013
36
Long QT genetics manifesting as atrial fibrillation. 6
23851063 2013
37
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 6
23788249 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
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). 6
21810866 2011
41
Modelling the long QT syndrome with induced pluripotent stem cells. 6
21240260 2011
42
Patient-specific induced pluripotent stem-cell models for long-QT syndrome. 6
20660394 2010
43
Identification of a Kir3.4 mutation in congenital long QT syndrome. 6
20560207 2010
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". 56
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 771) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KCNE1 NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn)SNV Conflicting interpretations of pathogenicity, other, risk factor 13479 rs1805128 21:35821680-35821680 21:34449382-34449382
2 KCNH2 NM_172057.2(KCNH2):c.1444G>A (p.Val482Met)SNV Pathogenic 14424 rs121912506 7:150646072-150646072 7:150948984-150948984
3 KCNQ1 NM_181798.1(KCNQ1):c.1171C>T (p.Arg391Ter)SNV Pathogenic 3131 rs17215500 11:2790111-2790111 11:2768881-2768881
4 KCNQ1 NM_181798.1(KCNQ1):c.541-1G>CSNV Pathogenic 3134 rs387906290 11:2604664-2604664 11:2583434-2583434
5 KCNQ1 NM_181798.1(KCNQ1):c.651G>A (p.Ala217=)SNV Pathogenic 3135 rs1800171 11:2604775-2604775 11:2583545-2583545
6 KCNQ1 NM_181798.1(KCNQ1):c.1385G>A (p.Gly462Asp)SNV Pathogenic 3140 rs120074190 11:2799239-2799239 11:2778009-2778009
7 KCNQ1 NM_000218.2(KCNQ1):c.350C>T (p.Pro117Leu)SNV Pathogenic 3141 rs120074191 11:2466678-2466678 11:2445448-2445448
8 KCNQ1 NM_181798.1(KCNQ1):c.424G>A (p.Gly142Ser)SNV Pathogenic 3144 rs120074193 11:2594100-2594100 11:2572870-2572870
9 KCNQ1 NM_181798.1(KCNQ1):c.425G>A (p.Gly142Asp)SNV Pathogenic 3145 rs120074194 11:2594101-2594101 11:2572871-2572871
10 KCNQ1 NM_181798.1(KCNQ1):c.1352-1G>CSNV Pathogenic 207970 rs878854348 11:2799205-2799205 11:2777975-2777975
11 KCNQ1 KCNQ1, 3-BP DELdeletion Pathogenic 3112
12 KCNQ1 NM_181798.1(KCNQ1):c.151G>C (p.Ala51Pro)SNV Pathogenic 3113 rs120074177 11:2591912-2591912 11:2570682-2570682
13 KCNQ1 NM_181798.1(KCNQ1):c.184G>A (p.Gly62Arg)SNV Pathogenic 3114 rs104894252 11:2591945-2591945 11:2570715-2570715
14 KCNQ1 NM_181798.1(KCNQ1):c.535G>A (p.Gly179Arg)SNV Pathogenic 3115 rs120074181 11:2594211-2594211 11:2572981-2572981
15 KCNQ1 NM_181798.1(KCNQ1):c.554C>T (p.Thr185Ile)SNV Pathogenic 3116 rs120074182 11:2604678-2604678 11:2583448-2583448
16 KCNQ1 NM_181798.1(KCNQ1):c.188G>A (p.Arg63Gln)SNV Pathogenic 3117 rs120074178 11:2591949-2591949 11:2570719-2570719
17 KCNQ1 NM_181798.1(KCNQ1):c.379G>A (p.Val127Met)SNV Pathogenic 3118 rs120074179 11:2593319-2593319 11:2572089-2572089
18 KCNQ1 NM_181798.1(KCNQ1):c.436C>T (p.Leu146Phe)SNV Pathogenic 3119 rs120074180 11:2594112-2594112 11:2572882-2572882
19 KCNQ1 NM_181798.1(KCNQ1):c.641C>A (p.Ala214Glu)SNV Pathogenic 3120 rs12720459 11:2604765-2604765 11:2583535-2583535
20 KCNQ1 NM_181798.1(KCNQ1):c.641C>T (p.Ala214Val)SNV Pathogenic 3121 rs12720459 11:2604765-2604765 11:2583535-2583535
21 KCNQ1 NM_181798.1(KCNQ1):c.653G>A (p.Gly218Glu)SNV Pathogenic 3122 rs120074183 11:2606443-2606443 11:2585213-2585213
22 KCNQ1 NM_181798.1(KCNQ1):c.559G>A (p.Gly187Ser)SNV Pathogenic 3123 rs120074184 11:2604683-2604683 11:2583453-2583453
23 KCNQ1 NM_181798.1(KCNQ1):c.1282C>T (p.Arg428Cys)SNV Pathogenic 3126 rs120074185 11:2797262-2797262 11:2776032-2776032
24 KCNQ1 NM_181798.1(KCNQ1):c.232G>A (p.Val78Met)SNV Pathogenic 37255 rs151344631 11:2592563-2592563 11:2571333-2571333
25 KCNQ1 NM_181798.1(KCNQ1):c.637_639del (p.Phe213del)deletion Pathogenic 52931 rs397508069 11:2604761-2604763 11:2583531-2583533
26 KCNQ1 NM_181798.1(KCNQ1):c.685C>T (p.Gln229Ter)SNV Pathogenic 52946 rs397508072 11:2606475-2606475 11:2585245-2585245
27 KCNQ1 NM_000218.2(KCNQ1):c.364dup (p.Cys122fs)duplication Pathogenic 200915 rs397508109 11:2466691-2466692 11:2445461-2445462
28 KCNQ1 NM_181798.1(KCNQ1):c.96+1G>ASNV Pathogenic 200874 rs762814879 11:2549249-2549249 11:2528019-2528019
29 KCNQ1 NM_181798.1(KCNQ1):c.533G>T (p.Trp178Leu)SNV Pathogenic 200824 rs120074186 11:2594209-2594209 11:2572979-2572979
30 KCNQ1 NM_181798.1(KCNQ1):c.1399C>T (p.Arg467Ter)SNV Pathogenic 200858 rs794728537 11:2799253-2799253 11:2778023-2778023
31 KCNQ1 NM_181798.1(KCNQ1):c.62del (p.Tyr21fs)deletion Pathogenic 207969 rs878854347 11:2549214-2549214 11:2527984-2527984
32 KCNQ1 NM_181798.1(KCNQ1):c.377C>G (p.Ser126Cys)SNV Pathogenic 207971 rs794728513 11:2593317-2593317 11:2572087-2572087
33 KCNQ1 NM_181798.1(KCNQ1):c.670T>C (p.Phe224Leu)SNV Pathogenic 207968 rs779383393 11:2606460-2606460 11:2585230-2585230
34 KCNQ1 NM_181798.1(KCNQ1):c.1099dup (p.Glu367fs)duplication Pathogenic 207972 rs878854349 11:2683273-2683274 11:2662043-2662044
35 KCNQ1 NM_181798.1(KCNQ1):c.1207C>T (p.Gln403Ter)SNV Pathogenic 52996 rs397508097 11:2790147-2790147 11:2768917-2768917
36 KCNQ1 NM_181798.1(KCNQ1):c.1234C>T (p.Arg412Trp)SNV Pathogenic 52998 rs199472795 11:2797214-2797214 11:2775984-2775984
37 KCNQ1 NM_181798.1(KCNQ1):c.1322G>C (p.Gly441Ala)SNV Pathogenic 53010 rs199472806 11:2798233-2798233 11:2777003-2777003
38 KCNQ1 NM_181798.1(KCNQ1):c.1391G>A (p.Arg464His)SNV Pathogenic 53017 rs199472814 11:2799245-2799245 11:2778015-2778015
39 KCNQ1 NM_181798.1(KCNQ1):c.96+5G>ASNV Pathogenic 53047 rs397508111 11:2549253-2549253 11:2528023-2528023
40 KCNQ1 NM_181798.1(KCNQ1):c.121G>A (p.Gly41Arg)SNV Pathogenic 53052 rs179489 11:2591882-2591882 11:2570652-2570652
41 KCNQ1 NM_181798.1(KCNQ1):c.139C>T (p.Arg47Cys)SNV Pathogenic 53058 rs199472696 11:2591900-2591900 11:2570670-2570670
42 KCNQ1 NM_181798.1(KCNQ1):c.152delinsGG (p.Ala51fs)indel Pathogenic 53062 rs397508115 11:2591913-2591913 11:2570683-2570683
43 KCNQ1 NM_181798.1(KCNQ1):c.170A>C (p.Tyr57Ser)SNV Pathogenic 53064 rs199473397 11:2591931-2591931 11:2570701-2570701
44 KCNQ1 NM_181798.1(KCNQ1):c.192_196del (p.Arg65fs)deletion Pathogenic 53072 rs397508118 11:2591950-2591954 11:2570720-2570724
45 KCNQ1 NM_181798.1(KCNQ1):c.311G>A (p.Arg104His)SNV Pathogenic 53087 rs199472709 11:2593251-2593251 11:2572021-2572021
46 KCNQ1 NM_181798.1(KCNQ1):c.394C>T (p.Arg132Cys)SNV Pathogenic 53100 rs199472719 11:2593334-2593334 11:2572104-2572104
47 KCNQ1 NM_181798.1(KCNQ1):c.415del (p.Leu139fs)deletion Pathogenic 53107 rs397508125 11:2594089-2594089 11:2572859-2572859
48 KCNQ1 NM_181798.1(KCNQ1):c.440_442TCT[1] (p.Phe148del)short repeat Pathogenic 53112 rs397508126 11:2594116-2594118 11:2572886-2572888
49 KCNQ1 NM_000218.2(KCNQ1):c.825_827CTC[1] (p.Ser277del)short repeat Pathogenic 53114 rs397508127 11:2594120-2594122 11:2572890-2572892
50 CALM2 NM_001743.6(CALM2):c.396T>G (p.Asp132Glu)SNV Pathogenic 96722 rs398124648 2:47388887-47388887 2:47161748-47161748

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

73 (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

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 50)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.39 SCN5A SCN4B SCN10A PKP2 DSP CALM3
2
Show member pathways
12.98 SCN5A SCN4B SCN10A KCNJ5 CALM3 CALM2
3
Show member pathways
12.95 KCNQ1 KCNJ5 KCNH2 CALM3 CALM2 CALM1
4
Show member pathways
12.72 NOS1AP KCNQ1 KCNJ5 CALM3 CALM2 CALM1
5
Show member pathways
12.5 TRDN CALM3 CALM2 CALM1
6
Show member pathways
12.49 KCNJ5 CALM3 CALM2 CALM1
7
Show member pathways
12.45 KCNJ5 CALM3 CALM2 CALM1
8
Show member pathways
12.41 SCN5A SCN4B KCNQ1 KCNE1 CALM3 CALM2
9 12.27 KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1 CALM3
10
Show member pathways
12.25 TRDN CALM3 CALM2 CALM1
11
Show member pathways
12.21 CALM3 CALM2 CALM1 AKAP9
12
Show member pathways
12.16 TRDN SCN5A SCN4B SCN10A KCNQ1 KCNH2
13
Show member pathways
12.13 KCNQ1 KCNE2 CALM3 CALM2 CALM1
14 12.08 SNTA1 SCN5A SCN4B NOS1AP KCNQ1 KCNH2
15 12.07 CAV3 CALM3 CALM2 CALM1
16
Show member pathways
12.01 SCN5A SCN4B SCN10A ANK2
17
Show member pathways
12 CALM3 CALM2 CALM1
18
Show member pathways
11.94 CALM3 CALM2 CALM1
19 11.9 CALM3 CALM2 CALM1
20
Show member pathways
11.9 CALM3 CALM2 CALM1
21 11.88 CALM3 CALM2 CALM1
22
Show member pathways
11.85 CALM3 CALM2 CALM1
23
Show member pathways
11.83 CALM3 CALM2 CALM1
24
Show member pathways
11.82 CALM3 CALM2 CALM1
25
Show member pathways
11.82 CALM3 CALM2 CALM1
26
Show member pathways
11.76 CALM3 CALM2 CALM1
27
Show member pathways
11.75 CALM3 CALM2 CALM1
28 11.73 CALM3 CALM2 CALM1
29
Show member pathways
11.73 CALM3 CALM2 CALM1
30 11.71 CALM3 CALM2 CALM1
31 11.68 CALM3 CALM2 CALM1
32
Show member pathways
11.66 CALM3 CALM2 CALM1
33 11.62 CALM3 CALM2 CALM1
34
Show member pathways
11.61 CALM3 CALM2 CALM1
35 11.56 SCN5A SCN4B KCNQ1 KCNJ5 KCNH2 KCNE2
36
Show member pathways
11.53 SCN5A SCN4B SCN10A KCNQ1 KCNE2 KCNE1
37 11.52 CALM3 CALM2 CALM1
38 11.36 CALM3 CALM2 CALM1
39 11.34 CALM3 CALM2 CALM1
40 11.31 CAV3 CALM3 CALM2 CALM1
41 11.3 CALM3 CALM2 CALM1
42 11.27 CALM3 CALM2 CALM1
43 11.23 CALM3 CALM2 CALM1
44 11.22 CALM3 CALM2 CALM1
45 11.21 SCN5A SCN4B SCN10A ANK2
46 11.17 NOS1AP CALM3 CALM2 CALM1
47 11.07 CALM3 CALM2 CALM1
48 10.99 CALM3 CALM2 CALM1
49 10.98 CALM3 CALM2 CALM1
50 10.78 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 10.19 TRDN SNTA1 SCN5A SCN4B SCN10A PKP2
2 cytoskeleton GO:0005856 10.11 SNTA1 DSP CALM3 CALM2 CALM1 ANK2
3 membrane raft GO:0045121 9.86 KCNQ1 KCNE1 CAV3 ANK2
4 vesicle GO:0031982 9.83 CAV3 CALM3 CALM2 CALM1
5 Z disc GO:0030018 9.8 SCN5A NOS1AP KCNE1 CAV3 ANK2
6 caveola GO:0005901 9.72 SCN5A NOS1AP CAV3
7 sarcolemma GO:0042383 9.72 SNTA1 SCN5A NOS1AP CAV3 ANK2
8 sarcomere GO:0030017 9.71 CALM3 CALM2 CALM1
9 spindle microtubule GO:0005876 9.69 CALM3 CALM2 CALM1
10 myelin sheath GO:0043209 9.67 CALM3 CALM2 CALM1
11 calcium channel complex GO:0034704 9.63 CALM3 CALM2 CALM1
12 voltage-gated sodium channel complex GO:0001518 9.61 SCN5A SCN4B SCN10A
13 dystrophin-associated glycoprotein complex GO:0016010 9.58 SNTA1 CAV3
14 T-tubule GO:0030315 9.55 SCN5A NOS1AP KCNJ5 CAV3 ANK2
15 catalytic complex GO:1902494 9.54 CALM3 CALM2 CALM1
16 inward rectifier potassium channel complex GO:1902937 9.48 NOS1AP KCNH2
17 intercalated disc GO:0014704 9.43 SCN5A SCN4B PKP2 DSP CAV3 ANK2
18 voltage-gated potassium channel complex GO:0008076 9.23 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 73)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10.21 SCN5A SCN4B SCN10A KCNQ1 KCNJ5 KCNH2
2 potassium ion transport GO:0006813 10.04 KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
3 potassium ion transmembrane transport GO:0071805 9.99 KCNQ1 KCNH2 KCNE2 KCNE1
4 muscle contraction GO:0006936 9.99 TRDN SNTA1 CAV3 CALM1
5 regulation of ion transmembrane transport GO:0034765 9.97 SCN5A SCN4B SCN10A KCNQ1 KCNJ5 KCNH2
6 cardiac muscle contraction GO:0060048 9.93 SCN5A SCN4B KCNQ1 KCNH2
7 cardiac conduction GO:0061337 9.93 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1 AKAP9
8 calcium-mediated signaling GO:0019722 9.91 CALM3 CALM2 CALM1
9 sodium ion transmembrane transport GO:0035725 9.91 SCN5A SCN4B SCN10A
10 cellular response to drug GO:0035690 9.9 KCNQ1 KCNH2 KCNE2
11 response to calcium ion GO:0051592 9.9 CALM3 CALM2 CALM1
12 cellular response to cAMP GO:0071320 9.89 KCNQ1 KCNE1 AKAP9
13 positive regulation of protein serine/threonine kinase activity GO:0071902 9.88 CALM3 CALM2 CALM1
14 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.88 CALM3 CALM2 CALM1 ANK2
15 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.88 TRDN CALM3 CALM2 CALM1
16 substantia nigra development GO:0021762 9.87 CALM3 CALM2 CALM1
17 potassium ion import across plasma membrane GO:1990573 9.87 KCNJ5 KCNH2 KCNE2
18 regulation of cytokinesis GO:0032465 9.87 CALM3 CALM2 CALM1
19 positive regulation of peptidyl-threonine phosphorylation GO:0010800 9.86 CALM3 CALM2 CALM1
20 positive regulation of protein dephosphorylation GO:0035307 9.86 CALM3 CALM2 CALM1
21 positive regulation of potassium ion transmembrane transport GO:1901381 9.86 NOS1AP KCNQ1 KCNH2 KCNE1
22 regulation of heart rate GO:0002027 9.86 SNTA1 SCN5A SCN10A CAV3 CALM3 CALM2
23 positive regulation of nitric-oxide synthase activity GO:0051000 9.85 NOS1AP CALM3 CALM1
24 potassium ion export across plasma membrane GO:0097623 9.85 KCNQ1 KCNH2 KCNE2 KCNE1
25 positive regulation of protein autophosphorylation GO:0031954 9.84 CALM3 CALM2 CALM1
26 negative regulation of peptidyl-threonine phosphorylation GO:0010801 9.84 CALM3 CALM2 CALM1
27 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.84 TRDN CALM3 CALM2 CALM1
28 regulation of potassium ion transmembrane transport GO:1901379 9.83 KCNH2 KCNE2 KCNE1
29 membrane depolarization during action potential GO:0086010 9.83 SCN5A SCN10A KCNH2
30 positive regulation of sodium ion transport GO:0010765 9.83 SCN5A SCN4B PKP2
31 membrane repolarization GO:0086009 9.83 KCNQ1 KCNH2 KCNE2 KCNE1
32 cardiac muscle cell action potential involved in contraction GO:0086002 9.83 SCN5A SCN4B PKP2 KCNE2 KCNE1
33 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.82 CALM3 CALM2 CALM1
34 detection of calcium ion GO:0005513 9.82 CALM3 CALM2 CALM1
35 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.81 KCNQ1 KCNH2 KCNE1
36 regulation of membrane repolarization GO:0060306 9.81 KCNQ1 KCNH2 KCNE2 AKAP9
37 ventricular cardiac muscle cell action potential GO:0086005 9.81 SNTA1 SCN5A PKP2 KCNQ1 KCNH2 KCNE2
38 atrial cardiac muscle cell action potential GO:0086014 9.8 SCN5A KCNQ1 ANK2
39 membrane repolarization during action potential GO:0086011 9.8 KCNQ1 KCNH2 KCNE2 KCNE1
40 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.8 KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
41 regulation of cardiac muscle contraction GO:0055117 9.8 SCN10A CAV3 CALM3 CALM2 CALM1 ANK2
42 regulation of cell communication by electrical coupling involved in cardiac conduction GO:1901844 9.79 CALM3 CALM2 CALM1
43 regulation of high voltage-gated calcium channel activity GO:1901841 9.79 NOS1AP CALM3 CALM1
44 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 9.78 TRDN CALM3 CALM2 CALM1
45 positive regulation of cyclic-nucleotide phosphodiesterase activity GO:0051343 9.77 CALM3 CALM2 CALM1
46 AV node cell action potential GO:0086016 9.77 SCN5A SCN4B SCN10A
47 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.75 CALM3 CALM1
48 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.75 KCNE2 KCNE1
49 regulation of release of sequestered calcium ion into cytosol GO:0051279 9.74 TRDN ANK2
50 regulation of synaptic vesicle endocytosis GO:1900242 9.74 CALM3 CALM1

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

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.58 TRDN SNTA1 SCN5A PKP2 NOS1AP KCNQ1
2 protein kinase binding GO:0019901 10.04 SCN5A CALM3 CALM2 CALM1 ANK2
3 protein domain specific binding GO:0019904 9.95 SCN5A CALM3 CALM2 CALM1
4 potassium channel activity GO:0005267 9.85 KCNQ1 KCNH2 KCNE2 KCNE1
5 voltage-gated potassium channel activity GO:0005249 9.84 KCNQ1 KCNH2 KCNE2 KCNE1
6 molecular adaptor activity GO:0060090 9.8 PKP2 CAV3 AKAP9
7 scaffold protein binding GO:0097110 9.8 SCN5A KCNQ1 KCNH2 DSP
8 voltage-gated ion channel activity GO:0005244 9.8 SCN5A SCN4B SCN10A KCNQ1 KCNJ5 KCNH2
9 potassium channel regulator activity GO:0015459 9.79 KCNE2 KCNE1 AKAP9
10 disordered domain specific binding GO:0097718 9.77 CALM3 CALM2 CALM1
11 protein serine/threonine kinase activator activity GO:0043539 9.77 CALM3 CALM2 CALM1
12 sodium channel activity GO:0005272 9.76 SCN5A SCN4B SCN10A
13 voltage-gated sodium channel activity GO:0005248 9.74 SCN5A SCN4B SCN10A
14 inward rectifier potassium channel activity GO:0005242 9.73 KCNJ5 KCNH2 KCNE2
15 sodium channel regulator activity GO:0017080 9.73 SNTA1 SCN4B PKP2 CAV3
16 delayed rectifier potassium channel activity GO:0005251 9.71 KCNQ1 KCNH2 KCNE2 KCNE1
17 titin binding GO:0031432 9.7 CALM3 CALM2 CALM1
18 adenylate cyclase binding GO:0008179 9.69 CALM3 CALM2 CALM1
19 protein phosphatase activator activity GO:0072542 9.65 CALM3 CALM2 CALM1
20 calcium channel inhibitor activity GO:0019855 9.64 CALM2 CALM1
21 nitric-oxide synthase regulator activity GO:0030235 9.63 CALM3 CALM1
22 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.63 KCNQ1 KCNH2 KCNE1
23 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.62 PKP2 DSP
24 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.62 SCN5A SCN4B
25 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization GO:0086089 9.61 KCNQ1 KCNJ5
26 type 3 metabotropic glutamate receptor binding GO:0031800 9.58 CALM3 CALM1
27 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.55 KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
28 adenylate cyclase activator activity GO:0010856 9.54 CALM3 CALM2 CALM1
29 N-terminal myristoylation domain binding GO:0031997 9.5 CALM3 CALM2 CALM1
30 ion channel binding GO:0044325 9.5 TRDN SNTA1 SCN5A SCN4B SCN10A PKP2
31 nitric-oxide synthase binding GO:0050998 9.43 SNTA1 SCN5A NOS1AP CAV3 CALM3 CALM1

Sources for Long Qt Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
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48 NCI
49 NCIt
50 NDF-RT
53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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