LQT9
MCID: LNG053
MIFTS: 43

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 72 29 6 15 70
Lqt9 57 12 20 72
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 20-May-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 70 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 20-May-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 Circadian entrainment and Transmission across Chemical Synapses. 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 : 72 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 80)
# Related Disease Score Top Affiliating Genes
1 long qt syndrome 2 28.4 SNTA1 SCN5A SCN4B RYR2 KCNQ1 KCNJ5
2 long qt syndrome 25.8 SSUH2 SNTA1 SCN5A SCN4B RYR2 KCNQ1
3 cav3-related distal myopathy 10.3 SSUH2 CAV3
4 myopathy, distal, tateyama type 10.3 SSUH2 CAV3
5 limb-girdle muscular dystrophy type 1c 10.3 SSUH2 CAV3
6 progressive familial heart block, type ia 10.2 SCN5A ANK2
7 properdin deficiency, x-linked 10.1 KCNJ2 KCNH2
8 brugada syndrome 2 10.1 SCN5A GPD1L
9 first-degree atrioventricular block 10.1 SCN5A KCNJ2 KCNH2
10 brugada syndrome 3 10.1 KCNE2 CACNA1C ANK2
11 long qt syndrome 15 10.1 KCNJ2 KCNE1 CACNA1C
12 familial short qt syndrome 10.1 KCNQ1 KCNJ2 KCNH2
13 deafness, autosomal recessive 98 10.1 KCNQ1 KCNE2 KCNE1
14 developmental and epileptic encephalopathy 14 10.1 SCN5A KCNQ1 KCNH2
15 second-degree atrioventricular block 10.0 SCN5A HCN4
16 rippling muscle disease 2 10.0 SSUH2 CAV3
17 familial sick sinus syndrome 10.0 SCN5A HCN4
18 ventricular tachycardia, catecholaminergic polymorphic, 3 9.9 RYR2 KCNJ2
19 hypokalemia 9.9 KCNQ1 KCNJ5 KCNH2
20 familial periodic paralysis 9.9 SCN5A KCNJ2 KCNJ12 CACNA1C
21 chromosome 2q35 duplication syndrome 9.9 KCNQ1 KCNJ2 KCNH2 CACNA1C
22 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 9.8 SCN5A KCNQ1 KCNH2 CACNA1C
23 idiopathic ventricular fibrillation, non brugada type 9.8 SCN5A RYR2 CACNA1C
24 long qt syndrome 14 9.8 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C
25 brugada syndrome 4 9.8 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C
26 left bundle branch hemiblock 9.8 SCN5A RYR2
27 anhidrosis, isolated, with normal sweat glands 9.8 RYR2 CACNA1C
28 early infantile epileptic encephalopathy 9.7 SCN5A SCN4B KCNQ1 KCNH2 CACNA1C
29 hypokalemic periodic paralysis, type 1 9.7 SCN5A KCNJ2 KCNJ12 KCNE1 CACNA1C
30 sick sinus syndrome 9.7 SNTA1 SCN5A HCN4 CACNA1C ANK2
31 arrhythmogenic right ventricular dysplasia, familial, 12 9.7 RYR2 KCNH2
32 brugada syndrome 1 9.7 SCN5A RYR2 KCNH2 AKAP9
33 cardiac conduction defect 9.6 SCN5A RYR2 KCNQ1 CACNA1C
34 syncope 9.6 SCN5A RYR2 KCNQ1 KCNH2
35 noonan syndrome with multiple lentigines 9.6 SCN5A RYR2 KCNQ1 KCNH2
36 neuromuscular junction disease 9.6 SCN5A RYR2 KCNH2 CACNA1C
37 congestive heart failure 9.6 SCN5A RYR2 KCNQ1 CACNA1C
38 neuromuscular disease 9.6 SCN5A RYR2 KCNH2 CAV3
39 rasopathy 9.6 SCN5A RYR2 KCNQ1 KCNH2
40 third-degree atrioventricular block 9.5 SCN5A KCNJ2 KCNJ12 KCNH2 HCN4
41 right bundle branch block 9.5 SCN5A KCNH2 HCN4 GPD1L CACNA1C
42 malignant hyperthermia 9.5 SCN5A RYR2 KCNH2 CAV3 CACNA1C
43 cardiomyopathy, familial hypertrophic, 1 9.5 SCN5A RYR2 KCNH2 CAV3 CACNA1C
44 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.4 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 ANK2
45 long qt syndrome 10 9.3 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNE2
46 long qt syndrome 12 9.2 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
47 progressive familial heart block 9.1 SCN5A RYR2 KCNQ1 KCNH2 HCN4 CACNA1C
48 short qt syndrome 9.1 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 KCNE2
49 familial long qt syndrome 9.1 SSUH2 SNTA1 SCN5A SCN4B KCNQ1 KCNH2
50 cardiac arrhythmia 9.0 SCN5A RYR2 KCNQ1 KCNH2 KCNE2 CACNA1C

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 20-May-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 20-May-2021)

MGI Mouse Phenotypes related to Long Qt Syndrome 9:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.65 CACNA1C CAV3 HCN4 KCNH2 KCNJ12 KCNJ2
2 muscle MP:0005369 9.28 CACNA1C CAV3 HCN4 KCNH2 KCNJ2 KCNQ1

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. 57 6
17275750 2007
2
Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. 6 57
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 Position
1 CAV3 NM_033337.2(CAV3):c.423C>G (p.Ser141Arg) SNV Pathogenic 8291 rs104893713 GRCh37: 3:8787520-8787520
GRCh38: 3:8745834-8745834
2 CAV3 NM_033337.2(CAV3):c.253G>A (p.Ala85Thr) SNV Pathogenic 8294 rs104893715 GRCh37: 3:8787350-8787350
GRCh38: 3:8745664-8745664
3 CAV3 , SSUH2 NM_033337.2(CAV3):c.40G>C (p.Val14Leu) SNV Pathogenic 8295 rs121909281 GRCh37: 3:8775602-8775602
GRCh38: 3:8733916-8733916
4 CAV3 NM_033337.2(CAV3):c.236T>G (p.Leu79Arg) SNV Pathogenic 8296 rs121909282 GRCh37: 3:8787333-8787333
GRCh38: 3:8745647-8745647
5 CAV3 NM_033337.3(CAV3):c.299T>A (p.Ile100Asn) SNV Likely pathogenic 973213 GRCh37: 3:8787396-8787396
GRCh38: 3:8745710-8745710
6 CAV3 NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) SNV Uncertain significance 8279 rs116840776 GRCh37: 3:8787313-8787313
GRCh38: 3:8745627-8745627
7 CAV3 NM_033337.3(CAV3):c.233C>T (p.Thr78Met) SNV Uncertain significance 8293 rs72546668 GRCh37: 3:8787330-8787330
GRCh38: 3:8745644-8745644
8 CAV3 NM_001234.5(CAV3):c.400G>A (p.Ala134Thr) SNV Uncertain significance 288112 rs773309037 GRCh37: 3:8787497-8787497
GRCh38: 3:8745811-8745811
9 CAV3 , SSUH2 NM_033337.2(CAV3):c.89A>G (p.Lys30Arg) SNV Uncertain significance 637987 rs753431407 GRCh37: 3:8775651-8775651
GRCh38: 3:8733965-8733965
10 CAV3 NM_033337.3(CAV3):c.446_448AGG[1] (p.Glu150del) Microsatellite Uncertain significance 869437 GRCh37: 3:8787543-8787545
GRCh38: 3:8745857-8745859

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

72
# 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:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.9 RYR2 KCNQ1 KCNJ5 KCNJ4 KCNJ2 KCNJ12
2
Show member pathways
12.89 KCNQ1 KCNJ5 KCNJ4 KCNJ2 KCNJ12 KCNH2
3
Show member pathways
12.5 SCN5A SCN4B RYR2 KCNQ1 KCNJ4 KCNJ2
4
Show member pathways
12.46 SCN5A SCN4B RYR2 KCNQ1 KCNE1 CACNA1C
5
Show member pathways
12.39 RYR2 KCNJ5 KCNJ4 KCNJ2 KCNJ12 CACNA1C
6
Show member pathways
12.28 RYR2 KCNQ1 KCNJ2 KCNE2
7 12.21 KCNQ1 KCNJ5 KCNJ4 KCNJ2 KCNJ12 KCNH2
8 12.13 SNTA1 SCN5A SCN4B RYR2 KCNQ1 KCNH2
9
Show member pathways
12.08 KCNQ1 KCNJ5 KCNJ4 KCNJ2 KCNJ12 KCNH2
10
Show member pathways
11.97 KCNJ5 KCNJ4 KCNJ2 KCNJ12
11
Show member pathways
11.87 KCNJ5 KCNJ4 KCNJ2 KCNJ12
12
Show member pathways
11.83 SCN5A SCN4B ANK2
13
Show member pathways
11.68 SCN5A SCN4B KCNQ1 KCNE2 KCNE1 CACNA1C
14 11.18 SCN5A SCN4B ANK2
15 11.18 SCN5A SCN4B RYR2 KCNQ1 KCNJ5 KCNJ4
16 10.98 KCNQ1 KCNJ2 KCNE1 HCN4

GO Terms for Long Qt Syndrome 9

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.33 SNTA1 SCN5A SCN4B RYR2 KCNQ1 KCNJ5
2 integral component of membrane GO:0016021 10.27 SCN5A SCN4B RYR2 KCNQ1 KCNJ5 KCNJ4
3 plasma membrane GO:0005886 10.19 SNTA1 SCN5A SCN4B RYR2 KCNQ1 KCNJ5
4 cell surface GO:0009986 9.92 SCN5A KCNH2 KCNE2 KCNE1 CAV3
5 Z disc GO:0030018 9.85 SCN5A RYR2 KCNE1 CAV3 CACNA1C ANK2
6 membrane raft GO:0045121 9.8 KCNQ1 KCNE1 CAV3 ANK2
7 postsynaptic membrane GO:0045211 9.73 SNTA1 KCNJ4 CACNA1C ANK2
8 intercalated disc GO:0014704 9.72 SCN5A SCN4B KCNJ2 CAV3 ANK2
9 lateral plasma membrane GO:0016328 9.65 SNTA1 SCN5A KCNQ1
10 sarcolemma GO:0042383 9.63 SNTA1 SCN5A RYR2 CAV3 CACNA1C ANK2
11 dystrophin-associated glycoprotein complex GO:0016010 9.55 SNTA1 CAV3
12 voltage-gated sodium channel complex GO:0001518 9.54 SCN5A SCN4B
13 intrinsic component of membrane GO:0031224 9.51 KCNJ2 KCNJ12
14 T-tubule GO:0030315 9.43 SCN5A KCNJ5 KCNJ2 CAV3 CACNA1C ANK2
15 voltage-gated potassium channel complex GO:0008076 9.23 KCNQ1 KCNJ5 KCNJ4 KCNJ2 KCNH2 KCNE2

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

(show top 50) (show all 63)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 10.16 SCN5A RYR2 KCNQ1 KCNH2 HCN4 CACNA1C
2 potassium ion transmembrane transport GO:0071805 10.11 KCNQ1 KCNJ5 KCNJ4 KCNJ2 KCNH2 KCNE2
3 potassium ion transport GO:0006813 10.09 KCNQ1 KCNJ5 KCNJ4 KCNJ2 KCNJ12 KCNH2
4 ion transmembrane transport GO:0034220 10.07 SCN5A RYR2 KCNJ5 KCNJ4 KCNH2
5 ventricular cardiac muscle cell action potential GO:0086005 10.07 SNTA1 SCN5A RYR2 KCNQ1 KCNH2 KCNE2
6 cardiac conduction GO:0061337 10.02 SCN5A KCNQ1 KCNJ4 KCNJ2 KCNJ12 KCNH2
7 potassium ion import across plasma membrane GO:1990573 10 KCNJ5 KCNJ4 KCNJ2 KCNJ12 KCNH2 KCNE2
8 muscle contraction GO:0006936 9.97 SNTA1 KCNJ12 HCN4 CAV3
9 cardiac muscle contraction GO:0060048 9.97 SCN5A SCN4B RYR2 KCNQ1 KCNH2
10 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.96 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
11 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.95 KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
12 cardiac muscle cell action potential involved in contraction GO:0086002 9.95 SCN5A SCN4B KCNJ2 KCNE2 KCNE1 CACNA1C
13 regulation of heart rate GO:0002027 9.95 SNTA1 SCN5A RYR2 HCN4 GPD1L CAV3
14 cellular response to cAMP GO:0071320 9.93 KCNQ1 KCNE1 HCN4 AKAP9
15 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.93 SCN5A SCN4B KCNJ2 HCN4 CACNA1C
16 regulation of heart rate by cardiac conduction GO:0086091 9.93 SCN5A SCN4B KCNQ1 KCNJ5 KCNJ2 KCNH2
17 regulation of membrane repolarization GO:0060306 9.92 KCNQ1 KCNJ2 KCNH2 KCNE2 AKAP9
18 sodium ion transport GO:0006814 9.91 SCN5A SCN4B HCN4
19 regulation of membrane potential GO:0042391 9.9 KCNH2 HCN4 CAV3
20 sodium ion transmembrane transport GO:0035725 9.9 SCN5A SCN4B HCN4
21 regulation of cardiac muscle contraction GO:0055117 9.9 RYR2 HCN4 CAV3 ANK2
22 cellular response to drug GO:0035690 9.89 KCNQ1 KCNH2 KCNE2
23 potassium ion export across plasma membrane GO:0097623 9.89 KCNQ1 KCNH2 KCNE2 KCNE1
24 membrane repolarization during action potential GO:0086011 9.89 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
25 positive regulation of potassium ion transmembrane transport GO:1901381 9.88 KCNQ1 KCNJ2 KCNH2 KCNE1
26 membrane repolarization GO:0086009 9.87 KCNQ1 KCNH2 KCNE2 KCNE1
27 regulation of heart contraction GO:0008016 9.86 KCNQ1 KCNJ12 CAV3
28 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.86 KCNQ1 KCNJ2 KCNH2 KCNE1
29 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.83 RYR2 CACNA1C ANK2
30 regulation of sodium ion transmembrane transporter activity GO:2000649 9.83 SCN4B GPD1L CAV3
31 regulation of potassium ion transmembrane transport GO:1901379 9.83 KCNH2 KCNE2 KCNE1
32 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.82 KCNQ1 KCNE2 KCNE1
33 positive regulation of sodium ion transport GO:0010765 9.82 SCN5A SCN4B GPD1L
34 regulation of cardiac muscle cell contraction GO:0086004 9.81 SCN5A KCNJ2 ANK2
35 atrial cardiac muscle cell action potential GO:0086014 9.8 SCN5A KCNQ1 ANK2
36 regulation of cardiac muscle cell action potential involved in regulation of contraction GO:0098909 9.8 HCN4 CAV3 AKAP9
37 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.79 SCN5A GPD1L CAV3
38 membrane depolarization during SA node cell action potential GO:0086046 9.79 SCN5A HCN4 ANK2
39 SA node cell action potential GO:0086015 9.78 SCN5A HCN4 ANK2
40 positive regulation of heart rate GO:0010460 9.73 RYR2 KCNQ1
41 membrane depolarization during action potential GO:0086010 9.73 SCN5A KCNH2
42 regulation of ion transmembrane transport GO:0034765 9.73 SCN5A SCN4B KCNQ1 KCNJ5 KCNJ4 KCNJ2
43 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.72 RYR2 CACNA1C
44 calcium ion transport into cytosol GO:0060402 9.72 RYR2 CACNA1C
45 cellular response to epinephrine stimulus GO:0071872 9.72 RYR2 KCNQ1
46 negative regulation of potassium ion transmembrane transport GO:1901380 9.72 KCNH2 CAV3
47 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.72 RYR2 CACNA1C
48 T-tubule organization GO:0033292 9.71 CAV3 ANK2
49 regulation of sodium ion transmembrane transport GO:1902305 9.71 SNTA1 SCN5A
50 regulation of cardiac muscle contraction by calcium ion signaling GO:0010882 9.71 RYR2 ANK2

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.91 SNTA1 SCN5A RYR2 KCNQ1 CACNA1C
2 ion channel activity GO:0005216 9.88 SCN5A RYR2 KCNQ1 KCNH2 HCN4 CACNA1C
3 potassium channel activity GO:0005267 9.83 KCNQ1 KCNH2 KCNE2 KCNE1 HCN4
4 sodium channel regulator activity GO:0017080 9.78 SNTA1 SCN4B GPD1L CAV3
5 voltage-gated potassium channel activity GO:0005249 9.77 KCNQ1 KCNH2 KCNE2 KCNE1 HCN4
6 scaffold protein binding GO:0097110 9.76 SCN5A KCNQ1 KCNH2
7 delayed rectifier potassium channel activity GO:0005251 9.76 KCNQ1 KCNH2 KCNE2 KCNE1
8 potassium channel regulator activity GO:0015459 9.74 KCNE2 KCNE1 AKAP9
9 sodium channel activity GO:0005272 9.72 SCN5A SCN4B HCN4
10 protein kinase A regulatory subunit binding GO:0034237 9.71 RYR2 KCNQ1 AKAP9
11 voltage-gated sodium channel activity GO:0005248 9.7 SCN5A SCN4B HCN4
12 ion channel binding GO:0044325 9.7 SNTA1 SCN5A SCN4B RYR2 KCNQ1 KCNE2
13 nitric-oxide synthase binding GO:0050998 9.67 SNTA1 SCN5A CAV3
14 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.65 KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
15 inward rectifier potassium channel activity GO:0005242 9.63 KCNJ5 KCNJ4 KCNJ2 KCNJ12 KCNH2 KCNE2
16 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.62 KCNQ1 KCNJ2 KCNH2 KCNE1
17 protein kinase A catalytic subunit binding GO:0034236 9.59 RYR2 KCNQ1
18 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.58 SCN5A SCN4B
19 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization GO:0086089 9.56 KCNQ1 KCNJ5
20 voltage-gated ion channel activity GO:0005244 9.4 SCN5A SCN4B KCNQ1 KCNJ5 KCNJ4 KCNJ2

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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