LQT9
MCID: LNG053
MIFTS: 42

Long Qt Syndrome 9 (LQT9)

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

Aliases & Classifications for Long Qt Syndrome 9

MalaCards integrated aliases for Long Qt Syndrome 9:

Name: Long Qt Syndrome 9 57 12 20 73 29 6 15 71
Lqt9 57 12 20 73
Long Qt Syndrome 2/9, Digenic, Included; Lqt2/9, Digenic, Included 57
Long Qt Syndrome 9, Acquired, Susceptibility to, Included 57
Long Qt Syndrome 2/9, Digenic, Included 57
Long Qt Syndrome 9, Acquired Included 57
Lqt2/9, Digenic, Included 57
Qt Syndrome, Long, Type 9 39
Long Qt Syndrome-9 13

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
sudden unexplained infant death (sids) reported in some patients


HPO:

31
long qt syndrome 9:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110650
OMIM® 57 611818
OMIM Phenotypic Series 57 PS192500
MeSH 44 D008133
ICD10 32 I45.8
MedGen 41 C2678485
UMLS 71 C2678485

Summaries for Long Qt Syndrome 9

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). For a discussion of genetic heterogeneity of long QT syndrome, see LQT1 (192500). (611818) (Updated 05-Mar-2021)

MalaCards based summary : Long Qt Syndrome 9, also known as lqt9, is related to long qt syndrome 2 and long qt syndrome. An important gene associated with Long Qt Syndrome 9 is CAV3 (Caveolin 3), and among its related pathways/superpathways are Cardiac conduction and cGMP-PKG signaling pathway. Affiliated tissues include heart, and related phenotypes are cardiac arrest and sinus bradycardia

Disease Ontology : 12 A long QT syndrome that has material basis in mutation of the CAV3 gene on chromosome 3p25.3.

UniProtKB/Swiss-Prot : 73 Long QT syndrome 9: 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.

Related Diseases for Long Qt Syndrome 9

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 9 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 long qt syndrome 2 28.4 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
2 long qt syndrome 26.2 SSUH2 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2
3 rippling muscle disease 2 10.1 SSUH2 CAV3
4 progressive familial heart block, type ia 10.0 SCN5A ANK2
5 brugada syndrome 2 10.0 SCN5A GPD1L
6 idiopathic ventricular fibrillation, non brugada type 9.9 SCN5A CACNA1C
7 familial periodic paralysis 9.9 SCN5A KCNJ2 CACNA1C
8 hyperkalemic periodic paralysis 9.9 SCN5A KCNJ2
9 isolated elevated serum creatine phosphokinase levels 9.8 SCN5A CAV3 CACNA1C
10 brugada syndrome 3 9.8 KCNE2 CACNA1C ANK2
11 properdin deficiency, x-linked 9.8 KCNJ2 KCNH2
12 long qt syndrome 15 9.8 KCNJ2 KCNE1 CACNA1C
13 deafness, autosomal recessive 98 9.8 KCNQ1 KCNE2 KCNE1
14 first-degree atrioventricular block 9.8 SCN5A KCNJ2 KCNH2
15 third-degree atrioventricular block 9.8 SCN5A KCNJ2 KCNH2
16 sick sinus syndrome 9.7 SNTA1 SCN5A CACNA1C ANK2
17 familial short qt syndrome 9.7 KCNQ1 KCNJ2 KCNH2
18 brugada syndrome 1 9.7 SCN5A KCNH2 AKAP9
19 hypokalemic periodic paralysis, type 1 9.7 SCN5A KCNJ2 KCNE1 CACNA1C
20 developmental and epileptic encephalopathy 14 9.7 SCN5A KCNQ1 KCNH2
21 syncope 9.6 SCN5A KCNQ1 KCNH2
22 noonan syndrome with multiple lentigines 9.6 SCN5A KCNQ1 KCNH2
23 neuromuscular junction disease 9.5 SCN5A KCNH2 CACNA1C
24 congestive heart failure 9.5 SCN5A KCNQ1 CACNA1C
25 malignant hyperthermia 9.4 SCN5A KCNH2 CAV3 CACNA1C
26 cardiomyopathy, familial hypertrophic, 1 9.4 SCN5A KCNH2 CAV3 CACNA1C
27 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.3 SCN5A KCNQ1 KCNJ2 KCNH2 ANK2
28 cardiac conduction defect 9.3 SCN5A KCNQ1 KCNH2 CACNA1C
29 right bundle branch block 9.3 SCN5A KCNH2 GPD1L CACNA1C
30 progressive familial heart block 9.3 SCN5A KCNQ1 KCNH2 CACNA1C
31 chromosome 2q35 duplication syndrome 9.3 KCNQ1 KCNJ2 KCNH2 CACNA1C
32 cardiac arrest 9.3 SCN5A KCNQ1 KCNH2 ANK2 AKAP9
33 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 9.3 SCN5A KCNQ1 KCNH2 CACNA1C
34 long qt syndrome 14 9.2 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C
35 brugada syndrome 4 9.2 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C
36 early infantile epileptic encephalopathy 9.1 SCN5A SCN4B KCNQ1 KCNH2 CACNA1C
37 lipoprotein quantitative trait locus 9.0 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
38 arrhythmogenic right ventricular cardiomyopathy 9.0 SCN5A KCNH2 KCNE1 CACNA1C ANK2 AKAP9
39 ventricular fibrillation, paroxysmal familial, 1 8.9 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1 CACNA1C
40 atrioventricular block 8.9 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1 CACNA1C
41 short qt syndrome 8.8 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
42 sinoatrial node disease 8.8 SCN5A KCNQ1 KCNJ2 KCNH2 GPD1L CACNA1C
43 myasthenic syndrome, congenital, 5 8.8 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
44 cardiac arrhythmia 8.7 SCN5A KCNQ1 KCNH2 KCNE2 CACNA1C ANK2
45 long qt syndrome 10 8.7 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNE2
46 atrial fibrillation 8.6 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
47 long qt syndrome 11 8.5 SNTA1 SCN4B KCNQ1 KCNJ2 KCNE2 KCNE1
48 left ventricular noncompaction 8.5 SNTA1 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE1
49 heart disease 8.5 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
50 congenital myasthenic syndrome 8.5 SNTA1 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2

Graphical network of the top 20 diseases related to Long Qt Syndrome 9:



Diseases related to Long Qt Syndrome 9

Symptoms & Phenotypes for Long Qt Syndrome 9

Human phenotypes related to Long Qt Syndrome 9:

31
# Description HPO Frequency HPO Source Accession
1 cardiac arrest 31 occasional (7.5%) HP:0001695
2 sinus bradycardia 31 occasional (7.5%) HP:0001688
3 prolonged qt interval 31 HP:0001657
4 ventricular arrhythmia 31 HP:0004308

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Cardiovascular Heart:
prolongation of corrected qt interval
nonexertional syncope (in some patients)
sinus bradycardia (in some patients)
cardiac arrest (in some patients)

Laboratory Abnormalities:
marked increase in late sodium current on voltage-clamp studies

Clinical features from OMIM®:

611818 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Long Qt Syndrome 9:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.17 CACNA1C CAV3 KCNH2 KCNJ2 KCNQ1 SCN5A

Drugs & Therapeutics for Long Qt Syndrome 9

Search Clinical Trials , NIH Clinical Center for Long Qt Syndrome 9

Genetic Tests for Long Qt Syndrome 9

Genetic tests related to Long Qt Syndrome 9:

# Genetic test Affiliating Genes
1 Long Qt Syndrome 9 29 CAV3

Anatomical Context for Long Qt Syndrome 9

MalaCards organs/tissues related to Long Qt Syndrome 9:

40
Heart

Publications for Long Qt Syndrome 9

Articles related to Long Qt Syndrome 9:

(show all 15)
# Title Authors PMID Year
1
Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3. 6 57
17275750 2007
2
Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. 57 6
17060380 2006
3
Molecular and muscle pathology in a series of caveolinopathy patients. 6
15580566 2005
4
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. 57
10220144 1999
5
Long QT syndrome caveolin-3 mutations differentially modulate Kv 4 and Cav 1.2 channels to contribute to action potential prolongation. 61
30588629 2019
6
Caveolin-3 Microdomain: Arrhythmia Implications for Potassium Inward Rectifier and Cardiac Sodium Channel. 61
30473666 2018
7
Inward Rectifier Potassium Channels (Kir2.x) and Caveolin-3 Domain-Specific Interaction: Implications for Purkinje Cell-Dependent Ventricular Arrhythmias. 61
29326130 2018
8
Patient Outcomes From a Specialized Inherited Arrhythmia Clinic. 61
26743238 2016
9
Left thoracoscopic sympathectomy for cardiac denervation in patients with life-threatening ventricular arrhythmias. 61
24268954 2014
10
Activity intensity during free-living activities in children and adolescents with inherited arrhythmia syndromes: assessment by combined accelerometer and heart rate monitor. 61
23994883 2013
11
Caveolin-3 suppresses late sodium current by inhibiting nNOS-dependent S-nitrosylation of SCN5A. 61
23541953 2013
12
The interaction of caveolin 3 protein with the potassium inward rectifier channel Kir2.1: physiology and pathology related to long qt syndrome 9 (LQT9). 61
23640888 2013
13
Caveolae, ion channels and cardiac arrhythmias. 61
19351512 2008
14
Implantable cardioverter defibrillator therapy for life-threatening arrhythmias in young patients. 61
12154326 2002
15
Supraventricular arrhythmias in children and young adults with implantable cardioverter defibrillators. 61
11699514 2001

Variations for Long Qt Syndrome 9

ClinVar genetic disease variations for Long Qt Syndrome 9:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CAV3 NM_033337.2(CAV3):c.423C>G (p.Ser141Arg) SNV Pathogenic 8291 rs104893713 3:8787520-8787520 3:8745834-8745834
2 CAV3 NM_033337.2(CAV3):c.253G>A (p.Ala85Thr) SNV Pathogenic 8294 rs104893715 3:8787350-8787350 3:8745664-8745664
3 CAV3 NM_033337.2(CAV3):c.40G>C (p.Val14Leu) SNV Pathogenic 8295 rs121909281 3:8775602-8775602 3:8733916-8733916
4 CAV3 NM_033337.2(CAV3):c.236T>G (p.Leu79Arg) SNV Pathogenic 8296 rs121909282 3:8787333-8787333 3:8745647-8745647
5 CAV3 NM_033337.3(CAV3):c.299T>A (p.Ile100Asn) SNV Likely pathogenic 973213 3:8787396-8787396 3:8745710-8745710
6 CAV3 NM_033337.3(CAV3):c.233C>T (p.Thr78Met) SNV Uncertain significance 8293 rs72546668 3:8787330-8787330 3:8745644-8745644
7 CAV3 NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) SNV Uncertain significance 8279 rs116840776 3:8787313-8787313 3:8745627-8745627
8 CAV3 NM_001234.5(CAV3):c.400G>A (p.Ala134Thr) SNV Uncertain significance 288112 rs773309037 3:8787497-8787497 3:8745811-8745811
9 CAV3 NM_033337.2(CAV3):c.89A>G (p.Lys30Arg) SNV Uncertain significance 637987 rs753431407 3:8775651-8775651 3:8733965-8733965
10 CAV3 NM_033337.3(CAV3):c.446_448AGG[1] (p.Glu150del) Microsatellite Uncertain significance 869437 3:8787543-8787545 3:8745857-8745859

UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 9:

73
# Symbol AA change Variation ID SNP ID
1 CAV3 p.Thr78Met VAR_043695 rs72546668
2 CAV3 p.Leu79Arg VAR_043696 rs121909282
3 CAV3 p.Ala85Thr VAR_043697 rs104893715
4 CAV3 p.Phe97Cys VAR_043698 rs104893714
5 CAV3 p.Ser141Arg VAR_043699 rs104893713

Expression for Long Qt Syndrome 9

Search GEO for disease gene expression data for Long Qt Syndrome 9.

Pathways for Long Qt Syndrome 9

Pathways related to Long Qt Syndrome 9 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.58 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE2
2
Show member pathways
12.3 SCN5A SCN4B KCNQ1 KCNE1 CACNA1C
3 12.22 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1 CACNA1C
4 12.01 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 GPD1L
5
Show member pathways
11.82 KCNQ1 KCNJ2 KCNH2
6
Show member pathways
11.73 SCN5A SCN4B ANK2
7
Show member pathways
11.37 SCN5A SCN4B KCNQ1 KCNE2 KCNE1 CACNA1C
8 11.09 SCN5A SCN4B ANK2
9 11.02 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE2
10 10.82 KCNQ1 KCNJ2 KCNE1

GO Terms for Long Qt Syndrome 9

Cellular components related to Long Qt Syndrome 9 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.29 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
2 plasma membrane GO:0005886 10.15 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
3 cell surface GO:0009986 9.85 SCN5A KCNH2 KCNE2 KCNE1 CAV3
4 lysosome GO:0005764 9.83 KCNQ1 KCNE2 KCNE1 ANK2
5 membrane raft GO:0045121 9.73 KCNQ1 KCNE1 CAV3 ANK2
6 Z disc GO:0030018 9.72 SCN5A KCNE1 CAV3 CACNA1C ANK2
7 postsynaptic membrane GO:0045211 9.71 SNTA1 CACNA1C ANK2
8 sarcolemma GO:0042383 9.65 SNTA1 SCN5A CAV3 CACNA1C ANK2
9 lateral plasma membrane GO:0016328 9.58 SNTA1 SCN5A KCNQ1
10 intercalated disc GO:0014704 9.55 SCN5A SCN4B KCNJ2 CAV3 ANK2
11 dystrophin-associated glycoprotein complex GO:0016010 9.49 SNTA1 CAV3
12 voltage-gated sodium channel complex GO:0001518 9.48 SCN5A SCN4B
13 T-tubule GO:0030315 9.35 SCN5A KCNJ2 CAV3 CACNA1C ANK2
14 voltage-gated potassium channel complex GO:0008076 9.1 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1 AKAP9

Biological processes related to Long Qt Syndrome 9 according to GeneCards Suite gene sharing:

(show all 49)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10.16 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE2
2 potassium ion transport GO:0006813 9.99 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
3 potassium ion transmembrane transport GO:0071805 9.98 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
4 regulation of ion transmembrane transport GO:0034765 9.97 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE2
5 cardiac muscle contraction GO:0060048 9.88 SCN5A SCN4B KCNQ1 KCNH2
6 cardiac conduction GO:0061337 9.86 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
7 cellular response to drug GO:0035690 9.85 KCNQ1 KCNH2 KCNE2
8 potassium ion export across plasma membrane GO:0097623 9.85 KCNQ1 KCNH2 KCNE2 KCNE1
9 regulation of heart rate GO:0002027 9.85 SNTA1 SCN5A GPD1L CAV3 ANK2
10 cellular response to cAMP GO:0071320 9.84 KCNQ1 KCNE1 AKAP9
11 positive regulation of potassium ion transmembrane transport GO:1901381 9.84 KCNQ1 KCNJ2 KCNH2 KCNE1
12 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.83 KCNQ1 KCNH2 KCNE2 KCNE1
13 regulation of membrane repolarization GO:0060306 9.83 KCNQ1 KCNJ2 KCNH2 KCNE2 AKAP9
14 potassium ion import across plasma membrane GO:1990573 9.82 KCNJ2 KCNH2 KCNE2
15 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.81 SCN5A SCN4B KCNJ2 CACNA1C
16 ventricular cardiac muscle cell action potential GO:0086005 9.81 SNTA1 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
17 regulation of sodium ion transmembrane transporter activity GO:2000649 9.8 SCN4B GPD1L CAV3
18 regulation of potassium ion transmembrane transport GO:1901379 9.8 KCNH2 KCNE2 KCNE1
19 membrane repolarization GO:0086009 9.8 KCNQ1 KCNH2 KCNE2 KCNE1
20 membrane repolarization during action potential GO:0086011 9.8 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
21 cardiac muscle cell action potential involved in contraction GO:0086002 9.8 SCN5A SCN4B KCNJ2 KCNE2 KCNE1 CACNA1C
22 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.79 KCNQ1 KCNE2 KCNE1
23 positive regulation of sodium ion transport GO:0010765 9.79 SCN5A SCN4B GPD1L
24 regulation of cardiac muscle cell contraction GO:0086004 9.78 SCN5A KCNJ2 ANK2
25 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.78 KCNQ1 KCNJ2 KCNH2 KCNE1
26 atrial cardiac muscle cell action potential GO:0086014 9.77 SCN5A KCNQ1 ANK2
27 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.74 SCN5A GPD1L CAV3
28 regulation of heart contraction GO:0008016 9.71 KCNQ1 CAV3
29 regulation of calcium ion transport GO:0051924 9.7 CAV3 ANK2
30 positive regulation of microtubule polymerization GO:0031116 9.7 CAV3 AKAP9
31 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.7 CACNA1C ANK2
32 regulation of cardiac muscle contraction GO:0055117 9.7 CAV3 ANK2
33 membrane depolarization during action potential GO:0086010 9.69 SCN5A KCNH2
34 negative regulation of potassium ion transmembrane transport GO:1901380 9.69 KCNH2 CAV3
35 T-tubule organization GO:0033292 9.69 CAV3 ANK2
36 regulation of sodium ion transmembrane transport GO:1902305 9.68 SNTA1 SCN5A
37 regulation of cardiac muscle cell action potential involved in regulation of contraction GO:0098909 9.68 CAV3 AKAP9
38 regulation of delayed rectifier potassium channel activity GO:1902259 9.68 KCNE2 KCNE1
39 negative regulation of voltage-gated potassium channel activity GO:1903817 9.67 KCNQ1 KCNE2
40 positive regulation of potassium ion transmembrane transporter activity GO:1901018 9.67 ANK2 AKAP9
41 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.67 SCN5A KCNQ1
42 membrane depolarization during SA node cell action potential GO:0086046 9.66 SCN5A ANK2
43 membrane depolarization during AV node cell action potential GO:0086045 9.65 SCN5A CACNA1C
44 SA node cell action potential GO:0086015 9.65 SCN5A ANK2
45 AV node cell action potential GO:0086016 9.65 SCN5A SCN4B
46 regulation of heart rate by cardiac conduction GO:0086091 9.65 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE2
47 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.64 SCN5A CACNA1C
48 regulation of calcium ion transmembrane transporter activity GO:1901019 9.63 CAV3 ANK2
49 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.32 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2

Molecular functions related to Long Qt Syndrome 9 according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.84 SNTA1 SCN5A KCNQ1 CACNA1C
2 ion channel activity GO:0005216 9.81 SCN5A KCNQ1 KCNH2 CACNA1C
3 potassium channel activity GO:0005267 9.76 KCNQ1 KCNH2 KCNE2 KCNE1
4 scaffold protein binding GO:0097110 9.72 SCN5A KCNQ1 KCNH2
5 voltage-gated potassium channel activity GO:0005249 9.71 KCNQ1 KCNH2 KCNE2 KCNE1
6 potassium channel regulator activity GO:0015459 9.67 KCNE2 KCNE1 AKAP9
7 sodium channel regulator activity GO:0017080 9.67 SNTA1 SCN4B GPD1L CAV3
8 inward rectifier potassium channel activity GO:0005242 9.65 KCNJ2 KCNH2 KCNE2
9 delayed rectifier potassium channel activity GO:0005251 9.62 KCNQ1 KCNH2 KCNE2 KCNE1
10 nitric-oxide synthase binding GO:0050998 9.61 SNTA1 SCN5A CAV3
11 sodium channel activity GO:0005272 9.58 SCN5A SCN4B
12 protein kinase A regulatory subunit binding GO:0034237 9.57 KCNQ1 AKAP9
13 voltage-gated sodium channel activity GO:0005248 9.56 SCN5A SCN4B
14 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.56 KCNQ1 KCNH2 KCNE2 KCNE1
15 voltage-gated ion channel activity GO:0005244 9.56 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE2
16 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.52 SCN5A SCN4B
17 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.46 KCNQ1 KCNJ2 KCNH2 KCNE1
18 ion channel binding GO:0044325 9.32 SNTA1 SCN5A SCN4B KCNQ1 KCNE2 KCNE1

Sources for Long Qt Syndrome 9

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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