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LQT6
MCID: LNG051
MIFTS: 44

Long Qt Syndrome 6 (LQT6)

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
Sources

Aliases & Classifications for Long Qt Syndrome 6

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MalaCards integrated aliases for Long Qt Syndrome 6:

Name: Long Qt Syndrome 6 56 12 52 73 29 6 15 71
Lqt6 56 12 52 73
Long Qt Syndrome 6, Acquired, Susceptibility to 6
Susceptibility to Acquired Long Qt Syndrome 6 73
Qt Syndrome, Long, Type 6 39
Long Qt Syndrome 3/6 73
Long Qt Syndrome 3-6 71
Long Qt Syndrome-6 13
Lqt3/6 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
association of cardiac events with exercise
gei (gene-environment interaction) - association of cardiac events with drug administration
genetic heterogeneity (see lqt1 )
patients with more severe phenotype have been reported with mutations in more than 1 lqt-related gene


HPO:

31
long qt syndrome 6:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Cardiovascular diseases Ear diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:0110648
OMIM 56 613693
OMIM Phenotypic Series 56 PS192500
MeSH 43 D008133
ICD10 32 I45.8
UMLS 71 C3150953 C3501836
Sources

Summaries for Long Qt Syndrome 6

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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). For a discussion of genetic heterogeneity of long QT syndrome, see LQT1 (192500). (613693)

MalaCards based summary : Long Qt Syndrome 6, also known as lqt6, is related to brugada syndrome 1 and progressive familial heart block, type ia, and has symptoms including syncope An important gene associated with Long Qt Syndrome 6 is KCNE2 (Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 2), and among its related pathways/superpathways are Cardiac conduction and cGMP-PKG signaling pathway. Affiliated tissues include heart and testes, and related phenotypes are prolonged qt interval and sudden cardiac death

Disease Ontology : 12 A long QT interval syndrome that has material basis in dominant inheritance of mutation in the KCNE2 gene on chromosome 21q22.11.

UniProtKB/Swiss-Prot : 73 Long QT syndrome 6: 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.

Sources

Related Diseases for Long Qt Syndrome 6

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Diseases in the Long Qt Syndrome family:

Long Qt Syndrome 1 Long Qt Syndrome 3
Long Qt Syndrome 9 Long Qt Syndrome 10
Long Qt Syndrome 11 Long Qt Syndrome 12
Long Qt Syndrome 13 Long Qt Syndrome 2
Long Qt Syndrome 6 Long Qt Syndrome 5
Long Qt Syndrome 14 Long Qt Syndrome 15
Long Qt Syndrome 8 Long Qt Syndrome 16
Familial Long Qt Syndrome

Diseases related to Long Qt Syndrome 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 72)
# Related Disease Score Top Affiliating Genes
1 brugada syndrome 1 10.1 SCN5A KCNH2
2 progressive familial heart block, type ia 10.1 SCN5A ANK2
3 deafness, autosomal recessive 98 10.0 KCNQ1 KCNE2 KCNE1
4 first-degree atrioventricular block 10.0 SCN5A KCNJ2
5 supravalvular aortic stenosis 10.0 SCN5A KCNH2
6 hyperkalemic periodic paralysis 10.0 SCN5A KCNJ2
7 paramyotonia congenita of von eulenburg 10.0 SCN5A KCNJ2
8 epileptic encephalopathy, early infantile, 14 10.0 SCN5A KCNQ1 KCNH2
9 syncope 9.9 SCN5A KCNQ1 KCNH2
10 familial short qt syndrome 9.9 KCNQ1 KCNJ2 KCNH2
11 progressive familial heart block 9.9 SCN5A KCNQ1 KCNH2
12 cardiomyopathy, dilated, 3b 9.9 SNTA1 CAV3
13 third-degree atrioventricular block 9.9 SCN5A KCNJ2 KCNH2
14 brugada syndrome 3 9.8 KCNE2 CACNA1C ANK2
15 long qt syndrome 15 9.7 KCNJ2 KCNE1 CACNA1C
16 right bundle branch block 9.7 SCN5A KCNH2 CACNA1C
17 erythromelalgia 9.7 SCN5A SCN4B
18 neuromuscular junction disease 9.7 SCN5A KCNH2 CACNA1C
19 cardiac conduction defect 9.7 SCN5A KCNQ1 KCNH2 ANK2
20 cardiac arrest 9.6 SCN5A KCNQ1 KCNH2 ANK2
21 chromosome 2q35 duplication syndrome 9.6 KCNQ1 KCNJ2 CACNA1C
22 familial periodic paralysis 9.6 SCN5A KCNJ2 CACNA1C
23 muscular dystrophy, becker type 9.6 SNTA1 CAV3
24 paroxysmal extreme pain disorder 9.6 SCN5A SCN4B
25 isolated elevated serum creatine phosphokinase levels 9.5 SCN5A CAV3 CACNA1C
26 neuromuscular disease 9.5 SCN5A KCNH2 CAV3
27 noonan syndrome with multiple lentigines 9.5 SCN5A KCNQ1 KCNH2 CACNA1C
28 familial hemiplegic migraine 9.5 SCN5A CACNA1C
29 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 9.5 SCN5A KCNQ1 KCNH2 CACNA1C
30 hypokalemic periodic paralysis, type 1 9.4 SCN5A KCNJ2 KCNE1 CACNA1C
31 early infantile epileptic encephalopathy 9.4 SCN5A SCN4B KCNQ1
32 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.4 SCN5A KCNQ1 KCNJ2 KCNH2 ANK2
33 malignant hyperthermia 9.3 SCN5A KCNH2 CAV3 CACNA1C
34 arrhythmogenic right ventricular cardiomyopathy 9.2 SCN5A KCNH2 KCNE1 CACNA1C ANK2
35 congestive heart failure 9.2 SCN5A KCNQ1 KCNJ2 KCNE2 CACNA1C
36 brugada syndrome 4 9.2 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C
37 ventricular fibrillation, paroxysmal familial, 1 9.1 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1 CACNA1C
38 atrioventricular block 9.1 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1 CACNA1C
39 long qt syndrome 14 9.0 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE1 CACNA1C
40 wolff-parkinson-white syndrome 8.9 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
41 familial long qt syndrome 8.8 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
42 myasthenic syndrome, congenital, 5 8.8 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
43 sick sinus syndrome 8.8 SNTA1 SCN5A KCNQ1 KCNJ2 CACNA1C ANK2
44 sinoatrial node disease 8.7 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 CACNA1C
45 cardiac arrhythmia 8.7 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 CACNA1C
46 sudden infant death syndrome 8.6 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 CAV3
47 left ventricular noncompaction 8.6 SNTA1 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE1
48 heart conduction disease 8.5 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
49 heart disease 8.4 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
50 congenital myasthenic syndrome 8.4 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1

Graphical network of the top 20 diseases related to Long Qt Syndrome 6:



Diseases related to Long Qt Syndrome 6
Sources

Symptoms & Phenotypes for Long Qt Syndrome 6

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Human phenotypes related to Long Qt Syndrome 6:

31
# Description HPO Frequency HPO Source Accession
1 prolonged qt interval 31 HP:0001657
2 sudden cardiac death 31 HP:0001645
3 syncope 31 HP:0001279
4 ventricular fibrillation 31 HP:0001663
5 torsade de pointes 31 HP:0001664

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Heart:
sudden cardiac death
syncope
ventricular fibrillation
torsade de pointes
prolonged qt interval on ekg

Clinical features from OMIM:

613693

UMLS symptoms related to Long Qt Syndrome 6:


syncope

MGI Mouse Phenotypes related to Long Qt Syndrome 6:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.17 CACNA1C CAV3 KCNH2 KCNJ2 KCNQ1 SCN5A
Sources

Drugs & Therapeutics for Long Qt Syndrome 6

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Search Clinical Trials , NIH Clinical Center for Long Qt Syndrome 6

Sources

Genetic Tests for Long Qt Syndrome 6

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Genetic tests related to Long Qt Syndrome 6:

# Genetic test Affiliating Genes
1 Long Qt Syndrome 6 29 KCNE2
Sources

Anatomical Context for Long Qt Syndrome 6

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MalaCards organs/tissues related to Long Qt Syndrome 6:

40
Heart, Testes
Sources

Publications for Long Qt Syndrome 6

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Articles related to Long Qt Syndrome 6:

(show all 29)
# Title Authors PMID Year
1
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. 6 56
16922724 2006
2
MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia. 6 56
10219239 1999
3
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 61 56
15840476 2005
4
Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. 61 6
14661677 2003
5
Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. 6
23994779 2013
6
Recurrent third-trimester fetal loss and maternal mosaicism for long-QT syndrome. 6
15184283 2004
7
Long QT Syndrome 6
20301308 2003
8
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 56
10973849 2000
9
A revised view of cardiac sodium channel "blockade" in the long-QT syndrome. 6
10772658 2000
10
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. 56
10220144 1999
11
A de novo missense mutation of human cardiac Na+ channel exhibiting novel molecular mechanisms of long QT syndrome. 6
9506831 1998
12
Loss-of-Function KCNE2 Variants: True Monogenic Culprits of Long-QT Syndrome or Proarrhythmic Variants Requiring Secondary Provocation? 61
28794082 2017
13
KCNE2 modulates cardiac L-type Ca(2+) channel. 61
24681347 2014
14
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. 61
19716085 2009
15
Postmortem long QT syndrome genetic testing for sudden unexplained death in the young. 61
17222736 2007
16
Allelic dropout in long QT syndrome genetic testing: a possible mechanism underlying false-negative results. 61
16818214 2006
17
Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing. 61
16818210 2006
18
Targeted mutational analysis of ankyrin-B in 541 consecutive, unrelated patients referred for long QT syndrome genetic testing and 200 healthy subjects. 61
16253912 2005
19
Single nucleotide polymorphism map of five long-QT genes. 61
15599693 2005
20
Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. 61
15466642 2004
21
Characterization of a KCNQ1/KVLQT1 polymorphism in Asian families with LQT2: implications for genetic testing. 61
15242738 2004
22
KCNE2 protein is expressed in ventricles of different species, and changes in its expression contribute to electrical remodeling in diseased hearts. 61
15066947 2004
23
Analysis of candidate genes for genotypic diagnosis in the long QT syndrome. 61
15306731 2004
24
[Value of genetic testing in the management of the congenital long QT syndrome]. 61
12838849 2003
25
[Inborn long QT-syndrome in childhood: clinical presentation and treatment]. 61
24535447 2002
26
Spectrum of ST-T-wave patterns and repolarization parameters in congenital long-QT syndrome: ECG findings identify genotypes. 61
11104743 2000
27
The long QT syndromes: genetic basis and clinical implications. 61
10898405 2000
28
Cardiac K+ channels and drug-acquired long QT syndrome. 61
10860023 2000
29
Long QT syndromes and torsade de pointes. 61
10560690 1999
Sources

Variations for Long Qt Syndrome 6

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ClinVar genetic disease variations for Long Qt Syndrome 6:

6 (show all 39) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KCNE2 NM_172201.1(KCNE2):c.161T>C (p.Met54Thr)SNV risk factor 6053 rs74315447 21:35742938-35742938 21:34370639-34370639
2 KCNE2 NM_172201.1(KCNE2):c.170T>C (p.Ile57Thr)SNV Conflicting interpretations of pathogenicity 6054 rs74315448 21:35742947-35742947 21:34370648-34370648
3 KCNE2 NM_172201.1(KCNE2):c.79C>T (p.Arg27Cys)SNV Conflicting interpretations of pathogenicity 6055 rs74315449 21:35742856-35742856 21:34370557-34370557
4 KCNE2 NM_172201.1(KCNE2):c.22A>G (p.Thr8Ala)SNV Conflicting interpretations of pathogenicity 67615 rs2234916 21:35742799-35742799 21:34370500-34370500
5 KCNE2 NM_172201.1(KCNE2):c.29C>T (p.Thr10Met)SNV Conflicting interpretations of pathogenicity 67619 rs199473648 21:35742806-35742806 21:34370507-34370507
6 KCNE2 NM_172201.1(KCNE2):c.354G>A (p.Gly118=)SNV Conflicting interpretations of pathogenicity 190792 rs187917779 21:35743131-35743131 21:34370832-34370832
7 KCNE2 NM_172201.1(KCNE2):c.-52G>ASNV Conflicting interpretations of pathogenicity 339717 rs41314699 21:35736411-35736411 21:34364112-34364112
8 KCNE2 NM_172201.1(KCNE2):c.-85G>ASNV Conflicting interpretations of pathogenicity 339714 rs41315511 21:35736378-35736378 21:34364079-34364079
9 KCNE2 NM_172201.1(KCNE2):c.317C>T (p.Ser106Leu)SNV Conflicting interpretations of pathogenicity 379226 rs183427173 21:35743094-35743094 21:34370795-34370795
10 KCNE2 NM_172201.1(KCNE2):c.-13+5G>ASNV Uncertain significance 190793 rs786205806 21:35736455-35736455 21:34364156-34364156
11 KCNE2 NM_172201.1(KCNE2):c.-80C>TSNV Uncertain significance 339715 rs566735365 21:35736383-35736383 21:34364084-34364084
12 KCNE2 NM_172201.1(KCNE2):c.153G>T (p.Leu51=)SNV Uncertain significance 339718 rs143767851 21:35742930-35742930 21:34370631-34370631
13 KCNE2 NM_172201.1(KCNE2):c.*62G>ASNV Uncertain significance 339719 rs72550218 21:35743211-35743211 21:34370912-34370912
14 KCNE2 NM_172201.1(KCNE2):c.*240G>CSNV Uncertain significance 339720 rs773295544 21:35743389-35743389 21:34371090-34371090
15 KCNE2 NM_172201.1(KCNE2):c.369_370del (p.Ter124IleextTer?)deletion Uncertain significance 190797 rs45610936 21:35743146-35743147 21:34370847-34370848
16 KCNE2 NM_172201.1(KCNE2):c.209G>A (p.Ser70Asn)SNV Uncertain significance 191164 rs751931568 21:35742986-35742986 21:34370687-34370687
17 KCNE2 NM_172201.1(KCNE2):c.190A>G (p.Ile64Val)SNV Uncertain significance 471499 rs1555837082 21:35742967-35742967 21:34370668-34370668
18 KCNE2 NM_172201.1(KCNE2):c.193G>A (p.Val65Met)SNV Uncertain significance 67611 rs199473364 21:35742970-35742970 21:34370671-34370671
19 KCNE2 NM_172201.1(KCNE2):c.193G>C (p.Val65Leu)SNV Uncertain significance 67612 rs199473364 21:35742970-35742970 21:34370671-34370671
20 KCNE2 NC_000021.9:g.34370649T>GSNV Uncertain significance 846911 21:35742948-35742948 21:34370649-34370649
21 KCNE2 NC_000021.9:g.34370495A>GSNV Uncertain significance 895204 21:35742794-35742794 21:34370495-34370495
22 KCNE2 NC_000021.9:g.34370656T>ASNV Uncertain significance 898248 21:35742955-35742955 21:34370656-34370656
23 KCNE2 NC_000021.9:g.34370861A>CSNV Uncertain significance 898249 21:35743160-35743160 21:34370861-34370861
24 KCNE2 NC_000021.9:g.34370911C>TSNV Uncertain significance 898250 21:35743210-35743210 21:34370911-34370911
25 KCNE2 NC_000021.9:g.34371084G>ASNV Uncertain significance 899357 21:35743383-35743383 21:34371084-34371084
26 KCNE2 NM_172201.1(KCNE2):c.204G>A (p.Leu68=)SNV Uncertain significance 538876 rs200403369 21:35742981-35742981 21:34370682-34370682
27 KCNE2 NM_172201.1(KCNE2):c.67A>T (p.Met23Leu)SNV Uncertain significance 560697 rs747045005 21:35742844-35742844 21:34370545-34370545
28 KCNE2 NM_172201.1(KCNE2):c.122T>C (p.Val41Ala)SNV Uncertain significance 577399 rs1273269997 21:35742899-35742899 21:34370600-34370600
29 KCNE2 NC_000021.8:g.(?_35742772)_(36421202_?)deldeletion Uncertain significance 584413 21:35742772-36421202
30 KCNE2 NM_172201.1(KCNE2):c.2T>C (p.Met1Thr)SNV Uncertain significance 659161 21:35742779-35742779 21:34370480-34370480
31 KCNE2 NM_172201.1(KCNE2):c.294C>G (p.Ser98Arg)SNV Uncertain significance 692254 21:35743071-35743071 21:34370772-34370772
32 KCNE2 NM_172201.1(KCNE2):c.309A>G (p.Leu103=)SNV Likely benign 697688 21:35743086-35743086 21:34370787-34370787
33 KCNE2 NM_172201.1(KCNE2):c.348G>A (p.Ala116=)SNV Likely benign 700968 21:35743125-35743125 21:34370826-34370826
34 KCNE2 NM_172201.1(KCNE2):c.75T>C (p.Asn25=)SNV Likely benign 705145 21:35742852-35742852 21:34370553-34370553
35 KCNE2 NM_172201.1(KCNE2):c.339C>T (p.Asn113=)SNV Likely benign 471500 rs756380802 21:35743116-35743116 21:34370817-34370817
36 KCNE2 NM_172201.1(KCNE2):c.40G>A (p.Val14Ile)SNV Likely benign 67621 rs142153692 21:35742817-35742817 21:34370518-34370518
37 KCNE2 NM_172201.1(KCNE2):c.80G>A (p.Arg27His)SNV Likely benign 67623 rs148968498 21:35742857-35742857 21:34370558-34370558
38 KCNE2 NM_172201.1(KCNE2):c.-79G>ASNV Benign/Likely benign 339716 rs41260744 21:35736384-35736384 21:34364085-34364085
39 KCNE2 NM_172201.1(KCNE2):c.25C>G (p.Gln9Glu)SNV Benign/Likely benign 6052 rs16991652 21:35742802-35742802 21:34370503-34370503

UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 6:

73
# Symbol AA change Variation ID SNP ID
1 KCNE2 p.Met54Thr VAR_008377 rs74315447
2 KCNE2 p.Ile57Thr VAR_008378 rs74315448
3 KCNE2 p.Val65Met VAR_015063 rs199473364
4 KCNE2 p.Phe60Leu VAR_029334 rs16991654
5 KCNE2 p.Arg77Trp VAR_035386 rs141423405

Sources

Expression for Long Qt Syndrome 6

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Search GEO for disease gene expression data for Long Qt Syndrome 6.
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Pathways for Long Qt Syndrome 6

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Pathways related to Long Qt Syndrome 6 according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Cardiac conduction 65
Show member pathways
 12.34 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE2
2
cGMP-PKG signaling pathway 36
Show member pathways
 12.3 SCN5A SCN4B KCNQ1 KCNE1 CACNA1C
3
Dopamine-DARPP32 Feedback onto cAMP Pathway 63
12.16 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1 CACNA1C
4
Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways 1
11.94 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 CAV3
5
Salivary secretion 36
Show member pathways
 11.89 KCNQ1 KCNJ2 KCNE2
6
Potassium Channels 65
Show member pathways
 11.82 KCNQ1 KCNJ2 KCNH2
7
L1CAM interactions 65
Show member pathways
 11.73 SCN5A SCN4B ANK2
8
Phase 0 - rapid depolarisation 65
Show member pathways
 11.51 SCN5A SCN4B KCNQ1 KCNE2 KCNE1 CACNA1C
9
Interaction between L1 and Ankyrins 65
11.09 SCN5A SCN4B ANK2
10
Antiarrhythmic Pathway, Pharmacodynamics 60
11.02 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE2
11
TarBasePathway 1
10.82 KCNQ1 KCNJ2 KCNE1
Sources

GO Terms for Long Qt Syndrome 6

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Cellular components related to Long Qt Syndrome 6 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.2 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
2 plasma membrane GO:0005886 10.11 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
3 cell surface GO:0009986 9.83 SCN5A KCNH2 KCNE2 KCNE1 CAV3
4 lysosome GO:0005764 9.78 KCNQ1 KCNE2 KCNE1 ANK2
5 Z disc GO:0030018 9.72 SCN5A KCNE1 CAV3 CACNA1C ANK2
6 membrane raft GO:0045121 9.71 KCNQ1 KCNE1 CAV3 ANK2
7 sarcolemma GO:0042383 9.65 SNTA1 SCN5A CAV3 CACNA1C ANK2
8 voltage-gated potassium channel complex GO:0008076 9.55 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
9 dystrophin-associated glycoprotein complex GO:0016010 9.51 SNTA1 CAV3
10 voltage-gated sodium channel complex GO:0001518 9.49 SCN5A SCN4B
11 T-tubule GO:0030315 9.35 SCN5A KCNJ2 CAV3 CACNA1C ANK2
12 intercalated disc GO:0014704 9.02 SCN5A SCN4B KCNJ2 CAV3 ANK2

Biological processes related to Long Qt Syndrome 6 according to GeneCards Suite gene sharing:

(show all 45)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10.13 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE2
2 transmembrane transport GO:0055085 10 SCN5A KCNQ1 KCNH2 CACNA1C
3 potassium ion transport GO:0006813 9.97 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
4 potassium ion transmembrane transport GO:0071805 9.97 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
5 regulation of ion transmembrane transport GO:0034765 9.97 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE2
6 cardiac muscle contraction GO:0060048 9.88 SCN5A SCN4B KCNQ1 KCNH2
7 regulation of heart rate GO:0002027 9.86 SNTA1 SCN5A CAV3 ANK2
8 positive regulation of potassium ion transmembrane transport GO:1901381 9.85 KCNQ1 KCNJ2 KCNH2 KCNE1
9 potassium ion export across plasma membrane GO:0097623 9.84 KCNQ1 KCNH2 KCNE2 KCNE1
10 cellular response to drug GO:0035690 9.83 KCNQ1 KCNH2 KCNE2
11 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.81 KCNQ1 KCNH2 KCNE2 KCNE1
12 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.8 SCN5A SCN4B KCNJ2 CACNA1C
13 membrane repolarization during action potential GO:0086011 9.8 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
14 cardiac muscle cell action potential involved in contraction GO:0086002 9.8 SCN5A SCN4B KCNJ2 KCNE2 KCNE1 CACNA1C
15 cardiac conduction GO:0061337 9.8 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
16 potassium ion import across plasma membrane GO:1990573 9.79 KCNJ2 KCNH2 KCNE2
17 regulation of potassium ion transmembrane transport GO:1901379 9.78 KCNH2 KCNE2 KCNE1
18 membrane repolarization GO:0086009 9.78 KCNQ1 KCNH2 KCNE2 KCNE1
19 regulation of cardiac muscle cell contraction GO:0086004 9.77 SCN5A KCNJ2 ANK2
20 atrial cardiac muscle cell action potential GO:0086014 9.77 SCN5A KCNQ1 ANK2
21 regulation of membrane repolarization GO:0060306 9.76 KCNQ1 KCNJ2 KCNH2 KCNE2
22 ventricular cardiac muscle cell action potential GO:0086005 9.76 SNTA1 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
23 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.73 KCNQ1 KCNJ2 KCNH2 KCNE1
24 regulation of heart contraction GO:0008016 9.69 KCNQ1 CAV3
25 regulation of calcium ion transport GO:0051924 9.69 CAV3 ANK2
26 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.69 CACNA1C ANK2
27 regulation of cardiac muscle contraction GO:0055117 9.68 CAV3 ANK2
28 regulation of sodium ion transmembrane transporter activity GO:2000649 9.68 SCN4B CAV3
29 membrane depolarization during action potential GO:0086010 9.68 SCN5A KCNH2
30 positive regulation of sodium ion transport GO:0010765 9.68 SCN5A SCN4B
31 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.67 KCNE2 KCNE1
32 negative regulation of potassium ion transmembrane transport GO:1901380 9.67 KCNH2 CAV3
33 T-tubule organization GO:0033292 9.67 CAV3 ANK2
34 regulation of sodium ion transmembrane transport GO:1902305 9.66 SNTA1 SCN5A
35 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.66 SCN5A CAV3
36 regulation of delayed rectifier potassium channel activity GO:1902259 9.65 KCNE2 KCNE1
37 SA node cell action potential GO:0086015 9.65 SCN5A ANK2
38 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.64 SCN5A KCNQ1
39 membrane depolarization during SA node cell action potential GO:0086046 9.64 SCN5A ANK2
40 membrane depolarization during AV node cell action potential GO:0086045 9.63 SCN5A CACNA1C
41 AV node cell action potential GO:0086016 9.63 SCN5A SCN4B
42 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.62 SCN5A CACNA1C
43 regulation of calcium ion transmembrane transporter activity GO:1901019 9.61 CAV3 ANK2
44 regulation of heart rate by cardiac conduction GO:0086091 9.61 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE2
45 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.28 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2

Molecular functions related to Long Qt Syndrome 6 according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.81 SNTA1 SCN5A KCNQ1 CACNA1C
2 ion channel activity GO:0005216 9.8 SCN5A KCNQ1 KCNH2 CACNA1C
3 potassium channel activity GO:0005267 9.73 KCNQ1 KCNH2 KCNE2 KCNE1
4 scaffold protein binding GO:0097110 9.7 SCN5A KCNQ1 KCNH2
5 voltage-gated potassium channel activity GO:0005249 9.67 KCNQ1 KCNH2 KCNE2 KCNE1
6 sodium channel regulator activity GO:0017080 9.65 SNTA1 SCN4B CAV3
7 inward rectifier potassium channel activity GO:0005242 9.63 KCNJ2 KCNH2 KCNE2
8 delayed rectifier potassium channel activity GO:0005251 9.62 KCNQ1 KCNH2 KCNE2 KCNE1
9 nitric-oxide synthase binding GO:0050998 9.58 SNTA1 SCN5A CAV3
10 potassium channel regulator activity GO:0015459 9.57 KCNE2 KCNE1
11 sodium channel activity GO:0005272 9.56 SCN5A SCN4B
12 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.56 KCNQ1 KCNH2 KCNE2 KCNE1
13 voltage-gated ion channel activity GO:0005244 9.56 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE2
14 voltage-gated sodium channel activity GO:0005248 9.55 SCN5A SCN4B
15 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.54 SCN5A SCN4B
16 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.46 KCNQ1 KCNJ2 KCNH2 KCNE1
17 ion channel binding GO:0044325 9.23 SNTA1 SCN5A SCN4B KCNQ1 KCNE2 KCNE1
Sources

Sources for Long Qt Syndrome 6

About this section
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
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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