LQT15
MCID: LNG096
MIFTS: 43

Long Qt Syndrome 15 (LQT15)

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Muscle diseases, Rare diseases
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Aliases & Classifications for Long Qt Syndrome 15

MalaCards integrated aliases for Long Qt Syndrome 15:

Name: Long Qt Syndrome 15 57 11 73 28 5 14 71
Lqt15 57 11 73
Long Qt Syndrome, Type 15 38

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset at birth or in early childhood


Classifications:



External Ids:

Disease Ontology 11 DOID:0110656
OMIM® 57 616249
OMIM Phenotypic Series 57 PS192500
MeSH 43 D008133
ICD10 31 I45.8
UMLS 71 C4015695

Summaries for Long Qt Syndrome 15

OMIM®: 57 LQT15 is a cardiac arrhythmia disorder characterized by ventricular arrhythmias, often life-threatening, occurring very early in life, frequent episodes of T-wave alternans, markedly prolonged QTc intervals, and intermittent 2:1 atrioventricular block (Crotti et al., 2013). Patients with LQT14 (616247), LQT15, or LQT16 (618782), resulting from mutation in calmodulin genes CALM1 (114180), CALM2, or CALM3 (114183), respectively, typically have a more severe phenotype, with earlier onset, profound QT prolongation, and a high predilection for cardiac arrest and sudden death, than patients with mutations in other genes (Boczek et al., 2016). (616249) (Updated 08-Dec-2022)

MalaCards based summary: Long Qt Syndrome 15, also known as lqt15, is related to long qt syndrome 14 and flying phobia. An important gene associated with Long Qt Syndrome 15 is CALM2 (Calmodulin 2), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Olfactory Signaling Pathway. Affiliated tissues include heart, heart-atrium and heart-ventricle, and related phenotypes are seizure and syncope

UniProtKB/Swiss-Prot: 73 A form of long QT syndrome, 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.

Disease Ontology: 11 A long QT syndrome that has material basis in dominant inheritance of mutation in the CALM2 gene on chromosome 2p21.

Related Diseases for Long Qt Syndrome 15

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

(show all 39)
# Related Disease Score Top Affiliating Genes
1 long qt syndrome 14 29.5 TRDN TECRL SNTA1 SCN4B KCNJ2 KCNH2
2 flying phobia 10.0 CALM3 CALM1
3 familial short qt syndrome 9.9 KCNJ2 KCNH2
4 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.9 TRDN CALM1
5 first-degree atrioventricular block 9.9 KCNJ2 KCNH2
6 atrioventricular block 9.9 KCNJ2 KCNH2
7 brugada syndrome 4 9.9 KCNJ2 KCNH2
8 diamond-blackfan anemia 3 9.9 KCNH2 CALM3 CALM1
9 sinoatrial node disease 9.8 KCNJ2 KCNH2
10 ventricular tachycardia, catecholaminergic polymorphic, 3 9.8 TRDN TECRL KCNJ2
11 hypokalemic periodic paralysis, type 1 9.7 TRDN SCN4B KCNJ2
12 third-degree atrioventricular block 9.7 KCNJ2 KCNH2
13 short qt syndrome 9.6 SCN4B KCNJ2 KCNH2
14 sudden infant death syndrome 9.5 SNTA1 SCN4B KCNH2 CALM2
15 atrial fibrillation 9.5 SNTA1 SCN4B KCNJ2 KCNH2
16 long qt syndrome 6 9.5 SNTA1 SCN4B KCNJ2 KCNH2
17 heart conduction disease 9.5 TRDN SCN4B KCNJ2 KCNH2
18 cardiac arrest 9.4 TRDN TECRL KCNH2 CALM3 CALM1
19 left ventricular noncompaction 9.4 TRDN SNTA1 KCNJ2 KCNH2 CALM1
20 long qt syndrome 10 9.3 SNTA1 SCN4B KCNJ2 AKAP9
21 long qt syndrome 11 9.3 SNTA1 SCN4B KCNJ2 AKAP9
22 dilated cardiomyopathy 9.2 TRDN SNTA1 SCN4B KCNJ2 KCNH2
23 long qt syndrome 12 9.1 SNTA1 SCN4B KCNJ2 KCNH2 AKAP9
24 long qt syndrome 13 9.1 SNTA1 SCN4B KCNJ2 KCNH2 AKAP9
25 long qt syndrome 5 9.1 SNTA1 SCN4B KCNJ2 KCNH2 AKAP9
26 intrinsic cardiomyopathy 9.0 SNTA1 SCN4B KCNJ2 KCNH2 AKAP9
27 long qt syndrome 9 8.9 TRDN SNTA1 SCN4B KCNJ2 KCNH2 AKAP9
28 long qt syndrome 3 8.9 TRDN SNTA1 SCN4B KCNJ2 KCNH2 AKAP9
29 timothy syndrome 8.9 TRDN SNTA1 SCN4B KCNJ2 KCNH2 AKAP9
30 cardiac arrhythmia, ankyrin-b-related 8.9 TRDN SNTA1 SCN4B KCNJ2 KCNH2 AKAP9
31 jervell and lange-nielsen syndrome 1 8.9 TRDN SNTA1 SCN4B KCNJ2 KCNH2 AKAP9
32 hypertrophic cardiomyopathy 8.8 TRDN SNTA1 KCNJ2 KCNH2 CALM3 CALM1
33 familial atrial fibrillation 8.8 TECRL SNTA1 SCN4B KCNJ2 KCNH2 AKAP9
34 andersen cardiodysrhythmic periodic paralysis 8.5 TRDN TECRL SNTA1 SCN4B KCNJ2 KCNH2
35 brugada syndrome 8.3 TRDN TECRL SNTA1 SCN4B KCNJ2 KCNH2
36 long qt syndrome 2 8.3 TRDN TECRL SNTA1 SCN4B KCNJ2 KCNH2
37 long qt syndrome 1 8.1 TRDN TECRL SNTA1 SCN4B KCNJ2 KCNH2
38 long qt syndrome 8.1 TRDN TECRL SNTA1 SCN4B KCNJ2 KCNH2
39 catecholaminergic polymorphic ventricular tachycardia 8.1 TRDN TECRL SNTA1 SCN4B KCNJ2 KCNH2

Graphical network of the top 20 diseases related to Long Qt Syndrome 15:



Diseases related to Long Qt Syndrome 15

Symptoms & Phenotypes for Long Qt Syndrome 15

Human phenotypes related to Long Qt Syndrome 15:

30 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizure 30 Very rare (1%) HP:0001250
2 syncope 30 Very rare (1%) HP:0001279
3 cardiac arrest 30 Very rare (1%) HP:0001695
4 sinus bradycardia 30 Very rare (1%) HP:0001688
5 ventricular fibrillation 30 Very rare (1%) HP:0001663
6 prolonged qtc interval 30 Very rare (1%) HP:0005184
7 left ventricular noncompaction 30 Very rare (1%) HP:0030682
8 polymorphic ventricular tachycardia 30 Very rare (1%) HP:0031677
9 ventricular ectopy 30 Very rare (1%) HP:0034041
10 ventricular bigeminy 30 Very rare (1%) HP:0034306

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Cardiovascular Heart:
sudden death (in some patients)
cardiac arrest (in some patients)
bradycardia (in some patients)
recurrent episodes of ventricular fibrillation
prolonged qtc interval on electrocardiogram (ecg)
more
Prenatal Manifestations:
fetal bradycardia (in some patients)

Clinical features from OMIM®:

616249 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Long Qt Syndrome 15 according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00173-A 9.8 CALM2
2 Decreased viability GR00221-A-1 9.8 AKAP9 CALM2
3 Decreased viability GR00221-A-2 9.8 CALM1 CALM2
4 Decreased viability GR00221-A-3 9.8 CALM1
5 Decreased viability GR00221-A-4 9.8 CALM1 CALM2
6 Decreased viability GR00240-S-1 9.8 AKAP9
7 Decreased viability GR00249-S 9.8 CALM2
8 Decreased viability GR00301-A 9.8 AKAP9 CALM1 CALM2
9 Decreased viability GR00402-S-2 9.8 CALM1
10 Reduced mammosphere formation GR00396-S 9.02 AKAP9 CALM1 CALM2 CALM3 SCN4B

Drugs & Therapeutics for Long Qt Syndrome 15

Search Clinical Trials, NIH Clinical Center for Long Qt Syndrome 15

Genetic Tests for Long Qt Syndrome 15

Genetic tests related to Long Qt Syndrome 15:

# Genetic test Affiliating Genes
1 Long Qt Syndrome 15 28 CALM2

Anatomical Context for Long Qt Syndrome 15

Organs/tissues related to Long Qt Syndrome 15:

MalaCards : Heart
ODiseA: Heart-Atrium, Heart-Ventricle, Heart

Publications for Long Qt Syndrome 15

Articles related to Long Qt Syndrome 15:

# Title Authors PMID Year
1
A Precision Medicine Approach to the Rescue of Function on Malignant Calmodulinopathic Long-QT Syndrome. 57 5
27765793 2017
2
Spectrum and Prevalence of CALM1-, CALM2-, and CALM3-Encoded Calmodulin Variants in Long QT Syndrome and Functional Characterization of a Novel Long QT Syndrome-Associated Calmodulin Missense Variant, E141G. 57 5
26969752 2016
3
Novel calmodulin mutations associated with congenital arrhythmia susceptibility. 57 5
24917665 2014
4
Calmodulin mutations associated with recurrent cardiac arrest in infants. 57 5
23388215 2013
5
Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry. 57
31170290 2019
6
Novel CPVT-Associated Calmodulin Mutation in CALM3 (CALM3-A103V) Activates Arrhythmogenic Ca Waves and Sparks. 5
27516456 2016
7
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 57
15840476 2005
8
Long QT syndrome with a de novo CALM2 mutation in a 4-year-old boy. 62
31283864 2019
9
Allele-specific ablation rescues electrophysiological abnormalities in a human iPS cell model of long-QT syndrome with a CALM2 mutation. 62
28335032 2017

Variations for Long Qt Syndrome 15

ClinVar genetic disease variations for Long Qt Syndrome 15:

5 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CALM2 NM_001743.6(CALM2):c.287A>T (p.Asp96Val) SNV Pathogenic
183233 rs730882254 GRCh37: 2:47388996-47388996
GRCh38: 2:47161857-47161857
2 CALM2 NM_001743.6(CALM2):c.400G>C (p.Asp134His) SNV Pathogenic
96723 rs398124650 GRCh37: 2:47388883-47388883
GRCh38: 2:47161744-47161744
3 CALM2 NM_001743.6(CALM2):c.396T>G (p.Asp132Glu) SNV Pathogenic
96722 rs398124648 GRCh37: 2:47388887-47388887
GRCh38: 2:47161748-47161748
4 CALM2 NM_001743.6(CALM2):c.407A>C (p.Gln136Pro) SNV Pathogenic
96724 rs398124649 GRCh37: 2:47388876-47388876
GRCh38: 2:47161737-47161737
5 CALM2 NM_001743.6(CALM2):c.414C>G (p.Asn138Lys) SNV Pathogenic
488476 rs1553431702 GRCh37: 2:47388869-47388869
GRCh38: 2:47161730-47161730
6 CALM2 NM_001743.6(CALM2):c.293A>T (p.Asn98Ile) SNV Pathogenic
96721 rs398124647 GRCh37: 2:47388990-47388990
GRCh38: 2:47161851-47161851
7 CALM2 NM_001743.6(CALM2):c.293A>G (p.Asn98Ser) SNV Pathogenic
96720 rs398124647 GRCh37: 2:47388990-47388990
GRCh38: 2:47161851-47161851
8 CALM2 NM_001743.6(CALM2):c.389A>G (p.Asp130Gly) SNV Pathogenic
812710 rs1573214163 GRCh37: 2:47388894-47388894
GRCh38: 2:47161755-47161755
9 CALM2 NM_001743.6(CALM2):c.400G>A (p.Asp134Asn) SNV Likely Pathogenic
448971 rs398124650 GRCh37: 2:47388883-47388883
GRCh38: 2:47161744-47161744
10 CALM2 NM_001743.6(CALM2):c.-56G>A SNV Uncertain Significance
1709364 GRCh37: 2:47403638-47403638
GRCh38: 2:47176499-47176499
11 CALM2 NM_001743.6(CALM2):c.421+97G>C SNV Benign
674616 rs2454084 GRCh37: 2:47388765-47388765
GRCh38: 2:47161626-47161626
12 CALM2 NM_001743.6(CALM2):c.421+96T>C SNV Benign
674615 rs2454085 GRCh37: 2:47388766-47388766
GRCh38: 2:47161627-47161627

UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 15:

73
# Symbol AA change Variation ID SNP ID
1 CALM2 p.Asp96Val VAR_073276 rs730882254
2 CALM2 p.Asn98Ile VAR_073277 rs398124647
3 CALM2 p.Asp132Glu VAR_073279 rs398124648
4 CALM2 p.Asp134His VAR_073280 rs398124650
5 CALM2 p.Gln136Pro VAR_073281 rs398124649
6 CALM2 p.Asp130Val VAR_078262
7 CALM2 p.Asn98Ser VAR_078543 rs398124647
8 CALM2 p.Asp130Gly VAR_078544 rs1573214163

Expression for Long Qt Syndrome 15

Search GEO for disease gene expression data for Long Qt Syndrome 15.

Pathways for Long Qt Syndrome 15

Pathways related to Long Qt Syndrome 15 according to GeneCards Suite gene sharing:

(show top 50) (show all 63)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.38 SCN4B CALM3 CALM2 CALM1 AKAP9
2
Show member pathways
13.25 SCN4B KCNJ2 CALM3 CALM2 CALM1
3
Show member pathways
12.95 CALM1 CALM2 CALM3 KCNH2 KCNJ2
4
Show member pathways
12.67 CALM3 CALM2 CALM1 AKAP9
5
Show member pathways
12.63 SNTA1 CALM3 CALM2 CALM1
6
Show member pathways
12.5 SCN4B CALM3 CALM2 CALM1
7
Show member pathways
12.46 CALM3 CALM2 CALM1
8
Show member pathways
12.39 CALM3 CALM2 CALM1
9
Show member pathways
12.37 CALM3 CALM2 CALM1
10
Show member pathways
12.34 CALM3 CALM2 CALM1
11
Show member pathways
12.34 TRDN CALM3 CALM2 CALM1
12
Show member pathways
12.3 CALM3 CALM2 CALM1
13
Show member pathways
12.3 CALM1 CALM2 CALM3
14
Show member pathways
12.28 CALM3 CALM2 CALM1
15
Show member pathways
12.27 CALM3 CALM2 CALM1
16
Show member pathways
12.27 CALM3 CALM2 CALM1
17
Show member pathways
12.24 CALM3 CALM2 CALM1
18
Show member pathways
12.23 CALM3 CALM2 CALM1
19
Show member pathways
12.22 CALM3 CALM2 CALM1
20
Show member pathways
12.21 CALM1 CALM2 CALM3
21
Show member pathways
12.21 CALM3 CALM2 CALM1
22
Show member pathways
12.2 CALM3 CALM2 CALM1
23
Show member pathways
12.19 CALM3 CALM2 CALM1
24
Show member pathways
12.19 CALM3 CALM2 CALM1
25
Show member pathways
12.18 CALM3 CALM2 CALM1
26
Show member pathways
12.15 CALM3 CALM2 CALM1
27
Show member pathways
12.13 CALM3 CALM2 CALM1
28
Show member pathways
12.12 CALM3 CALM2 CALM1
29 12.12 CALM3 CALM2 CALM1
30
Show member pathways
12.1 CALM3 CALM2 CALM1
31
Show member pathways
12.08 CALM1 CALM2 CALM3
32 12.05 SNTA1 SCN4B KCNH2
33
Show member pathways
12 CALM3 CALM2 CALM1
34
Show member pathways
11.96 TRDN SCN4B KCNJ2 KCNH2 CALM3 CALM2
35
Show member pathways
11.95 CALM3 CALM2 CALM1
36
Show member pathways
11.94 CALM3 CALM2 CALM1 AKAP9
37
Show member pathways
11.93 CALM1 CALM2 CALM3
38
Show member pathways
11.89 CALM3 CALM2 CALM1
39
Show member pathways
11.87 CALM3 CALM2 CALM1
40
Show member pathways
11.81 CALM1 CALM2 CALM3
41 11.79 KCNJ2 KCNH2 CALM3 CALM2 CALM1 AKAP9
42 11.78 CALM3 CALM2 CALM1
43
Show member pathways
11.73 CALM3 CALM2 CALM1
44
Show member pathways
11.72 CALM3 CALM2 CALM1
45
Show member pathways
11.66 CALM3 CALM2 CALM1
46
Show member pathways
11.64 CALM3 CALM2 CALM1
47 11.6 CALM3 CALM2 CALM1
48
Show member pathways
11.48 CALM3 CALM2 CALM1
49 11.45 CALM3 CALM2 CALM1
50 11.45 KCNH2 KCNJ2 SCN4B

GO Terms for Long Qt Syndrome 15

Cellular components related to Long Qt Syndrome 15 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 vesicle GO:0031982 9.95 CALM3 CALM2 CALM1
2 spindle pole GO:0000922 9.93 CALM3 CALM2 CALM1
3 sarcomere GO:0030017 9.88 CALM3 CALM2 CALM1
4 sperm midpiece GO:0097225 9.85 CALM3 CALM2 CALM1
5 spindle microtubule GO:0005876 9.8 CALM1 CALM2 CALM3
6 microtubule organizing center GO:0005815 9.73 CALM3 CALM2 CALM1 AKAP9
7 myelin sheath GO:0043209 9.73 CALM3 CALM2 CALM1
8 calcium channel complex GO:0034704 9.63 CALM3 CALM2 CALM1
9 catalytic complex GO:1902494 9.43 CALM3 CALM2 CALM1
10 voltage-gated potassium channel complex GO:0008076 9.4 KCNJ2 KCNH2 CALM3 CALM2 CALM1 AKAP9

Biological processes related to Long Qt Syndrome 15 according to GeneCards Suite gene sharing:

(show all 38)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein serine/threonine kinase activity GO:0071902 10.12 CALM3 CALM2 CALM1
2 response to calcium ion GO:0051592 10.12 CALM3 CALM2 CALM1
3 G2/M transition of mitotic cell cycle GO:0000086 10.11 CALM3 CALM2 CALM1
4 substantia nigra development GO:0021762 10.09 CALM3 CALM2 CALM1
5 regulation of cytokinesis GO:0032465 10.09 CALM3 CALM2 CALM1
6 positive regulation of DNA binding GO:0043388 10.08 CALM1 CALM2 CALM3
7 positive regulation of protein dephosphorylation GO:0035307 10.08 CALM3 CALM2 CALM1
8 positive regulation of peptidyl-threonine phosphorylation GO:0010800 10.07 CALM3 CALM2 CALM1
9 positive regulation of protein autophosphorylation GO:0031954 10.06 CALM3 CALM2 CALM1
10 regulation of heart rate by cardiac conduction GO:0086091 10.06 SCN4B KCNJ2 KCNH2 AKAP9
11 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 10.05 CALM1 CALM2 CALM3
12 regulation of cardiac muscle contraction GO:0055117 10.04 CALM1 CALM2 CALM3
13 negative regulation of peptidyl-threonine phosphorylation GO:0010801 10.03 CALM3 CALM2 CALM1
14 regulation of calcium-mediated signaling GO:0050848 10.01 CALM3 CALM2 CALM1
15 regulation of heart rate GO:0002027 10.01 SNTA1 CALM3 CALM2 CALM1
16 positive regulation of phosphoprotein phosphatase activity GO:0032516 10 CALM1 CALM2 CALM3
17 detection of calcium ion GO:0005513 9.99 CALM3 CALM2 CALM1
18 regulation of monoatomic ion transmembrane transport GO:0034765 9.98 SCN4B KCNJ2 KCNH2
19 ventricular cardiac muscle cell action potential GO:0086005 9.97 SNTA1 KCNH2
20 cardiac muscle cell action potential involved in contraction GO:0086002 9.97 SCN4B KCNJ2
21 positive regulation of potassium ion transmembrane transport GO:1901381 9.97 KCNJ2 KCNH2
22 regulation of membrane repolarization GO:0060306 9.97 KCNJ2 KCNH2 AKAP9
23 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.96 SCN4B KCNJ2
24 membrane repolarization during action potential GO:0086011 9.96 KCNH2 KCNJ2
25 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.95 KCNJ2 KCNH2
26 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.95 CALM3 CALM2 CALM1
27 regulation of cell communication by electrical coupling involved in cardiac conduction GO:1901844 9.95 CALM3 CALM2 CALM1
28 negative regulation of high voltage-gated calcium channel activity GO:1901842 9.93 CALM1 CALM3
29 regulation of cardiac muscle cell action potential GO:0098901 9.93 CALM3 CALM1
30 regulation of cyclase activity GO:0031279 9.92 CALM2 CALM1
31 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.86 AKAP9 KCNH2 SCN4B SNTA1
32 positive regulation of cyclic-nucleotide phosphodiesterase activity GO:0051343 9.85 CALM3 CALM2 CALM1
33 calcium-mediated signaling GO:0019722 9.83 CALM3 CALM2 CALM1
34 negative regulation of calcium ion export across plasma membrane GO:1905913 9.8 CALM3 CALM2 CALM1
35 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.76 TRDN CALM3 CALM2 CALM1
36 negative regulation of calcium ion transmembrane transporter activity GO:1901020 9.73 CALM1 CALM2 CALM3
37 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.56 TRDN CALM3 CALM2 CALM1
38 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 9.23 TRDN CALM3 CALM2 CALM1

Molecular functions related to Long Qt Syndrome 15 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 calcium-dependent protein binding GO:0048306 9.97 CALM3 CALM2 CALM1
2 protein serine/threonine kinase activator activity GO:0043539 9.93 CALM3 CALM2 CALM1
3 disordered domain specific binding GO:0097718 9.91 CALM3 CALM2 CALM1
4 enzyme regulator activity GO:0030234 9.88 CALM3 CALM2 CALM1
5 inward rectifier potassium channel activity GO:0005242 9.85 KCNJ2 KCNH2
6 protein phosphatase activator activity GO:0072542 9.85 CALM1 CALM2 CALM3
7 nitric-oxide synthase binding GO:0050998 9.84 SNTA1 CALM3
8 voltage-gated monoatomic ion channel activity GO:0005244 9.83 SCN4B KCNJ2 KCNH2
9 calcium channel inhibitor activity GO:0019855 9.81 CALM2 CALM1
10 titin binding GO:0031432 9.8 CALM3 CALM2 CALM1
11 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.78 KCNH2 KCNJ2
12 adenylate cyclase binding GO:0008179 9.73 CALM3 CALM2 CALM1
13 adenylate cyclase activator activity GO:0010856 9.63 CALM1 CALM2 CALM3
14 transmembrane transporter binding GO:0044325 9.47 TRDN SNTA1 SCN4B CALM3 CALM2 CALM1
15 N-terminal myristoylation domain binding GO:0031997 9.43 CALM3 CALM2 CALM1

Sources for Long Qt Syndrome 15

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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