LQT14
MCID: LNG098
MIFTS: 42

Long Qt Syndrome 14 (LQT14)

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

Aliases & Classifications for Long Qt Syndrome 14

MalaCards integrated aliases for Long Qt Syndrome 14:

Name: Long Qt Syndrome 14 56 12 73 29 6 15 71
Lqt14 56 12 73
Long Qt Syndrome, Type 14 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
some patients have onset at birth or in early infancy, whereas other have onset in late childhood or adolescence
some patients experience neurologic sequelae (seizures or developmental delay) after multiple episodes of cardiac arrest
in some patients, qtc interval is prolonged only during exercise testing


HPO:

31
long qt syndrome 14:
Clinical modifier sudden death
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110655
OMIM 56 616247
OMIM Phenotypic Series 56 PS192500
MeSH 43 D008133
ICD10 32 I45.8
UMLS 71 C4015671

Summaries for Long Qt Syndrome 14

OMIM : 56 LQT14 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, LQT15 (616249), or LQT16 (618782), resulting from mutation in calmodulin genes CALM1, CALM2 (114182), 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). (616247)

MalaCards based summary : Long Qt Syndrome 14, also known as lqt14, is related to long qt syndrome 15 and ventricular tachycardia, catecholaminergic polymorphic, 4. An important gene associated with Long Qt Syndrome 14 is CALM1 (Calmodulin 1), and among its related pathways/superpathways are G-Beta Gamma Signaling and Transmission across Chemical Synapses. Affiliated tissues include heart and testes, and related phenotypes are cardiac arrest and ventricular fibrillation

Disease Ontology : 12 A long QT syndrome that has material basis in dominant inheritance of mutation in the CALM1 gene on chromosome 14q32.11.

UniProtKB/Swiss-Prot : 73 Long QT syndrome 14: 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.

Related Diseases for Long Qt Syndrome 14

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

(show top 50) (show all 66)
# Related Disease Score Top Affiliating Genes
1 long qt syndrome 15 30.1 TECRL KCNJ2 KCNE1 CALM1 CACNA1C
2 ventricular tachycardia, catecholaminergic polymorphic, 4 10.2 KCNQ1 CALM1
3 deafness, autosomal recessive 98 10.0 KCNQ1 KCNE1
4 brugada syndrome 1 9.9 SCN5A KCNH2
5 isolated elevated serum creatine phosphokinase levels 9.8 SCN5A CACNA1C
6 cardiac conduction defect 9.7 SCN5A KCNQ1 KCNH2
7 epileptic encephalopathy, early infantile, 14 9.7 SCN5A KCNQ1 KCNH2
8 first-degree atrioventricular block 9.7 SCN5A KCNJ2
9 syncope 9.7 SCN5A KCNQ1 KCNH2
10 supravalvular aortic stenosis 9.7 SCN5A KCNH2
11 progressive familial heart block 9.7 SCN5A KCNQ1 KCNH2
12 hyperkalemic periodic paralysis 9.7 SCN5A KCNJ2
13 ventricular tachycardia, catecholaminergic polymorphic, 3 9.6 TECRL KCNJ2
14 right bundle branch block 9.6 SCN5A KCNH2 CACNA1C
15 paramyotonia congenita of von eulenburg 9.6 SCN5A KCNJ2
16 familial hemiplegic migraine 9.6 SCN5A CACNA1C
17 neuromuscular junction disease 9.6 SCN5A KCNH2 CACNA1C
18 malignant hyperthermia 9.6 SCN5A KCNH2 CACNA1C
19 sudden infant death syndrome 9.6 SCN5A KCNQ1 KCNH2
20 familial periodic paralysis 9.5 SCN5A KCNJ2 CACNA1C
21 chromosome 2q35 duplication syndrome 9.5 KCNQ1 KCNJ2 CACNA1C
22 familial short qt syndrome 9.4 KCNQ1 KCNJ2 KCNH2
23 noonan syndrome with multiple lentigines 9.4 SCN5A KCNQ1 KCNH2 CACNA1C
24 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 9.4 SCN5A KCNQ1 KCNH2 CACNA1C
25 third-degree atrioventricular block 9.4 SCN5A KCNJ2 KCNH2
26 sick sinus syndrome 9.3 SCN5A KCNQ1 KCNJ2 CACNA1C
27 long qt syndrome 10 9.2 SCN5A KCNQ1 KCNJ2 KCNE1
28 congestive heart failure 9.2 SCN5A KCNQ1 KCNJ2 CACNA1C
29 arrhythmogenic right ventricular cardiomyopathy 9.2 SCN5A KCNH2 KCNE1 CACNA1C
30 long qt syndrome 11 9.2 KCNQ1 KCNJ2 KCNE1 CACNA1C
31 hypokalemic periodic paralysis, type 1 9.1 SCN5A KCNJ2 KCNE1 CACNA1C
32 ventricular fibrillation, paroxysmal familial, 1 9.1 SCN5A KCNQ1 KCNH2 KCNE1 CACNA1C
33 atrioventricular block 9.0 SCN5A KCNQ1 KCNH2 KCNE1 CACNA1C
34 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 8.9 SCN5A KCNQ1 KCNJ2 KCNH2 CALM1
35 cardiac arrhythmia 8.9 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C
36 cardiac arrest 8.8 TECRL SCN5A KCNQ1 KCNH2 CALM3 CALM1
37 brugada syndrome 4 8.8 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C
38 sinoatrial node disease 8.8 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C
39 long qt syndrome 13 8.8 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE1
40 long qt syndrome 12 8.8 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE1
41 wolff-parkinson-white syndrome 8.8 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE1
42 familial long qt syndrome 8.5 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE1 CACNA1C
43 long qt syndrome 5 8.5 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE1 CACNA1C
44 long qt syndrome 6 8.5 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE1 CACNA1C
45 long qt syndrome 9 8.5 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE1 CACNA1C
46 long qt syndrome 3 8.5 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE1 CACNA1C
47 jervell and lange-nielsen syndrome 1 8.5 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE1 CACNA1C
48 cardiac arrhythmia, ankyrin-b-related 8.5 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE1 CACNA1C
49 timothy syndrome 8.5 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE1 CACNA1C
50 myasthenic syndrome, congenital, 5 8.5 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE1 CACNA1C

Graphical network of the top 20 diseases related to Long Qt Syndrome 14:



Diseases related to Long Qt Syndrome 14

Symptoms & Phenotypes for Long Qt Syndrome 14

Human phenotypes related to Long Qt Syndrome 14:

31
# Description HPO Frequency HPO Source Accession
1 cardiac arrest 31 occasional (7.5%) HP:0001695
2 ventricular fibrillation 31 HP:0001663
3 prolonged qtc interval 31 HP:0005184

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Heart:
sudden death (in some patients)
cardiac arrest (in some patients)
recurrent episodes of ventricular fibrillation
ventricular tachycardia, nonsustained (in some patients)
syncopal episodes (in some patients)
more

Clinical features from OMIM:

616247

MGI Mouse Phenotypes related to Long Qt Syndrome 14:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.02 CACNA1C KCNH2 KCNJ2 KCNQ1 SCN5A

Drugs & Therapeutics for Long Qt Syndrome 14

Search Clinical Trials , NIH Clinical Center for Long Qt Syndrome 14

Genetic Tests for Long Qt Syndrome 14

Genetic tests related to Long Qt Syndrome 14:

# Genetic test Affiliating Genes
1 Long Qt Syndrome 14 29 CALM1

Anatomical Context for Long Qt Syndrome 14

MalaCards organs/tissues related to Long Qt Syndrome 14:

40
Heart, Testes

Publications for Long Qt Syndrome 14

Articles related to Long Qt Syndrome 14:

# Title Authors PMID Year
1
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. 56 6
26969752 2016
2
A mutation in CALM1 encoding calmodulin in familial idiopathic ventricular fibrillation in childhood and adolescence. 6 56
24076290 2014
3
Calmodulin mutations associated with recurrent cardiac arrest in infants. 56 6
23388215 2013
4
Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry. 56
31170290 2019
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
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 56
15840476 2005
7
Long QT Syndrome 6
20301308 2003

Variations for Long Qt Syndrome 14

ClinVar genetic disease variations for Long Qt Syndrome 14:

6 (show all 17) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CALM1 NM_006888.6(CALM1):c.394G>A (p.Asp132Asn)SNV Pathogenic 639902 14:90870831-90870831 14:90404487-90404487
2 CALM1 NM_006888.6(CALM1):c.389A>G (p.Asp130Gly)SNV Pathogenic 183230 rs730882252 14:90870826-90870826 14:90404482-90404482
3 CALM1 NM_006888.6(CALM1):c.426C>G (p.Phe142Leu)SNV Pathogenic 183231 rs199744595 14:90871037-90871037 14:90404693-90404693
4 CALM1 NM_006888.6(CALM1):c.268T>C (p.Phe90Leu)SNV Pathogenic 183232 rs730882253 14:90870295-90870295 14:90403951-90403951
5 CALM1 NM_006888.6(CALM1):c.293A>G (p.Asn98Ser)SNV Pathogenic/Likely pathogenic 39758 rs267607277 14:90870730-90870730 14:90404386-90404386
6 CALM1 NM_006888.6(CALM1):c.398G>A (p.Gly133Glu)SNV Likely pathogenic 542137 rs1555366045 14:90870835-90870835 14:90404491-90404491
7 CALM1 NM_006888.6(CALM1):c.72C>T (p.Gly24=)SNV Conflicting interpretations of pathogenicity 162063 rs267607278 14:90867640-90867640 14:90401296-90401296
8 CALM1 NM_006888.6(CALM1):c.78C>T (p.Gly26=)SNV Uncertain significance 475383 rs1555365884 14:90867646-90867646 14:90401302-90401302
9 CALM1 NM_006888.6(CALM1):c.157A>G (p.Ile53Val)SNV Uncertain significance 475380 rs1555365887 14:90867725-90867725 14:90401381-90401381
10 CALM1 NM_006888.6(CALM1):c.106G>C (p.Val36Leu)SNV Uncertain significance 845207 14:90867674-90867674 14:90401330-90401330
11 CALM1 NM_006888.6(CALM1):c.301A>G (p.Ile101Val)SNV Uncertain significance 644229 14:90870738-90870738 14:90404394-90404394
12 CALM1 NM_006888.6(CALM1):c.69T>C (p.Asp23=)SNV Likely benign 475382 rs144339242 14:90867637-90867637 14:90401293-90401293
13 CALM1 NM_006888.6(CALM1):c.273A>G (p.Arg91=)SNV Likely benign 542138 rs1211887414 14:90870300-90870300 14:90403956-90403956
14 CALM1 NM_006888.6(CALM1):c.411C>G (p.Val137=)SNV Likely benign 542139 rs749827346 14:90870848-90870848 14:90404504-90404504
15 CALM1 NM_006888.6(CALM1):c.324C>T (p.His108=)SNV Likely benign 389896 rs139706811 14:90870761-90870761 14:90404417-90404417
16 CALM1 NM_006888.6(CALM1):c.4-10C>GSNV Benign/Likely benign 389903 rs191723671 14:90866399-90866399 14:90400055-90400055
17 CALM1 NM_006888.6(CALM1):c.303C>T (p.Ile101=)SNV Benign/Likely benign 475381 rs143503733 14:90870740-90870740 14:90404396-90404396

UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 14:

73
# Symbol AA change Variation ID SNP ID
1 CALM1 p.Phe90Leu VAR_073275 rs730882253
2 CALM1 p.Phe142Leu VAR_073282 rs11551462
3 CALM1 p.Glu141Gly VAR_078263
4 CALM1 p.Asp130Gly VAR_078542 rs730882252

Expression for Long Qt Syndrome 14

Search GEO for disease gene expression data for Long Qt Syndrome 14.

Pathways for Long Qt Syndrome 14

Pathways related to Long Qt Syndrome 14 according to GeneCards Suite gene sharing:

(show all 35)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.83 SCN5A CALM3 CALM1 CACNA1C
2
Show member pathways
12.73 KCNQ1 KCNJ2 KCNH2 CALM3 CALM1
3
Show member pathways
12.59 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE1 CALM3
4
Show member pathways
12.53 KCNQ1 KCNJ2 CALM3 CALM1 CACNA1C
5
Show member pathways
12.33 CALM3 CALM1 CACNA1C
6
Show member pathways
12.3 SCN5A KCNQ1 KCNE1 CALM3 CALM1 CACNA1C
7
Show member pathways
12.26 KCNJ2 CALM3 CALM1 CACNA1C
8 12.14 CALM3 CALM1 CACNA1C
9
Show member pathways
12.11 CALM3 CALM1 CACNA1C
10
Show member pathways
12.08 CALM3 CALM1 CACNA1C
11 12.06 KCNQ1 KCNJ2 KCNH2 KCNE1 CALM3 CALM1
12 11.98 SCN5A KCNQ1 KCNH2
13
Show member pathways
11.96 KCNQ1 KCNJ2 CALM3 CALM1
14 11.92 CALM3 CALM1 CACNA1C
15
Show member pathways
11.9 KCNQ1 KCNJ2 KCNH2
16
Show member pathways
11.8 CALM3 CALM1 CACNA1C
17
Show member pathways
11.77 CALM3 CALM1 CACNA1C
18
Show member pathways
11.72 CALM3 CALM1 CACNA1C
19
Show member pathways
11.68 CALM3 CALM1
20 11.51 KCNJ2 CALM3 CALM1 CACNA1C
21
Show member pathways
11.31 SCN5A KCNQ1 KCNE1 CALM3 CALM1 CACNA1C
22 11.21 CALM3 CALM1
23 11.21 CALM3 CALM1
24 11.19 CALM3 CALM1
25 11.16 CALM3 CALM1
26 11.13 CALM3 CALM1
27 11.09 CALM3 CALM1
28 11.09 CALM3 CALM1
29 11.08 CALM3 CALM1
30 10.94 CALM3 CALM1
31 10.86 CALM3 CALM1
32 10.86 KCNQ1 KCNJ2 KCNE1
33 10.85 CALM3 CALM1
34 10.85 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE1 CACNA1C
35 10.66 CALM3 CALM1

GO Terms for Long Qt Syndrome 14

Cellular components related to Long Qt Syndrome 14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.92 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE1 CALM3
2 intercalated disc GO:0014704 9.46 SCN5A KCNJ2
3 spindle microtubule GO:0005876 9.43 CALM3 CALM1
4 Z disc GO:0030018 9.43 SCN5A KCNE1 CACNA1C
5 myelin sheath GO:0043209 9.4 CALM3 CALM1
6 calcium channel complex GO:0034704 9.37 CALM3 CALM1
7 catalytic complex GO:1902494 9.16 CALM3 CALM1
8 T-tubule GO:0030315 9.13 SCN5A KCNJ2 CACNA1C
9 voltage-gated potassium channel complex GO:0008076 9.1 KCNQ1 KCNJ2 KCNH2 KCNE1 CALM3 CALM1

Biological processes related to Long Qt Syndrome 14 according to GeneCards Suite gene sharing:

(show top 50) (show all 53)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10.02 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE1 CACNA1C
2 transmembrane transport GO:0055085 10 SCN5A KCNQ1 KCNH2 CACNA1C
3 potassium ion transport GO:0006813 9.88 KCNQ1 KCNJ2 KCNH2 KCNE1
4 potassium ion transmembrane transport GO:0071805 9.87 KCNQ1 KCNJ2 KCNH2 KCNE1
5 regulation of ion transmembrane transport GO:0034765 9.8 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE1 CACNA1C
6 cardiac muscle contraction GO:0060048 9.78 SCN5A KCNQ1 KCNH2
7 regulation of heart rate GO:0002027 9.76 SCN5A CALM3 CALM1
8 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.76 SCN5A KCNQ1 KCNH2 KCNE1
9 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.73 CALM3 CALM1 CACNA1C
10 ventricular cardiac muscle cell action potential GO:0086005 9.73 SCN5A KCNQ1 KCNH2 KCNE1
11 substantia nigra development GO:0021762 9.71 CALM3 CALM1
12 potassium ion import across plasma membrane GO:1990573 9.71 KCNJ2 KCNH2
13 regulation of cytokinesis GO:0032465 9.71 CALM3 CALM1
14 activation of adenylate cyclase activity GO:0007190 9.71 CALM3 CALM1
15 response to amphetamine GO:0001975 9.71 CALM3 CALM1
16 potassium ion export across plasma membrane GO:0097623 9.71 KCNQ1 KCNH2 KCNE1
17 cardiac muscle cell action potential involved in contraction GO:0086002 9.71 SCN5A KCNJ2 KCNE1 CACNA1C
18 positive regulation of DNA binding GO:0043388 9.7 CALM3 CALM1
19 positive regulation of peptidyl-threonine phosphorylation GO:0010800 9.7 CALM3 CALM1
20 positive regulation of protein dephosphorylation GO:0035307 9.7 CALM3 CALM1
21 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.7 KCNQ1 KCNH2 KCNE1
22 positive regulation of protein autophosphorylation GO:0031954 9.69 CALM3 CALM1
23 positive regulation of nitric-oxide synthase activity GO:0051000 9.69 CALM3 CALM1
24 regulation of cardiac muscle contraction GO:0055117 9.69 CALM3 CALM1
25 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.69 SCN5A KCNJ2 CACNA1C
26 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.68 CALM3 CALM1
27 negative regulation of peptidyl-threonine phosphorylation GO:0010801 9.68 CALM3 CALM1
28 regulation of potassium ion transmembrane transport GO:1901379 9.68 KCNH2 KCNE1
29 response to corticosterone GO:0051412 9.68 CALM3 CALM1
30 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.67 CALM3 CALM1
31 membrane depolarization during action potential GO:0086010 9.67 SCN5A KCNH2
32 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.67 CALM3 CALM1
33 membrane repolarization GO:0086009 9.67 KCNQ1 KCNH2 KCNE1
34 positive regulation of potassium ion transmembrane transport GO:1901381 9.67 KCNQ1 KCNJ2 KCNH2 KCNE1
35 regulation of synaptic vesicle endocytosis GO:1900242 9.66 CALM3 CALM1
36 establishment of protein localization to membrane GO:0090150 9.66 CALM3 CALM1
37 regulation of cardiac muscle cell contraction GO:0086004 9.65 SCN5A KCNJ2
38 detection of calcium ion GO:0005513 9.65 CALM3 CALM1
39 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.65 CALM3 CALM1
40 regulation of membrane repolarization GO:0060306 9.65 KCNQ1 KCNJ2 KCNH2
41 atrial cardiac muscle cell action potential GO:0086014 9.64 SCN5A KCNQ1
42 regulation of cell communication by electrical coupling involved in cardiac conduction GO:1901844 9.64 CALM3 CALM1
43 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 9.63 CALM3 CALM1
44 regulation of high voltage-gated calcium channel activity GO:1901841 9.63 CALM3 CALM1
45 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.62 SCN5A KCNQ1
46 membrane depolarization during AV node cell action potential GO:0086045 9.62 SCN5A CACNA1C
47 positive regulation of cyclic-nucleotide phosphodiesterase activity GO:0051343 9.61 CALM3 CALM1
48 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.6 SCN5A CACNA1C
49 establishment of protein localization to mitochondrial membrane GO:0090151 9.59 CALM3 CALM1
50 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.56 KCNQ1 KCNJ2 KCNH2 KCNE1

Molecular functions related to Long Qt Syndrome 14 according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 protein domain specific binding GO:0019904 9.79 SCN5A CALM3 CALM1
2 calmodulin binding GO:0005516 9.77 SCN5A KCNQ1 CACNA1C
3 potassium channel activity GO:0005267 9.71 KCNQ1 KCNH2 KCNE1
4 ion channel activity GO:0005216 9.71 SCN5A KCNQ1 KCNH2 CACNA1C
5 voltage-gated potassium channel activity GO:0005249 9.69 KCNQ1 KCNH2 KCNE1
6 scaffold protein binding GO:0097110 9.65 SCN5A KCNQ1 KCNH2
7 disordered domain specific binding GO:0097718 9.61 CALM3 CALM1
8 protein serine/threonine kinase activator activity GO:0043539 9.61 CALM3 CALM1
9 enzyme regulator activity GO:0030234 9.6 CALM3 CALM1
10 phosphatidylinositol 3-kinase binding GO:0043548 9.58 CALM3 CALM1
11 inward rectifier potassium channel activity GO:0005242 9.58 KCNJ2 KCNH2
12 titin binding GO:0031432 9.57 CALM3 CALM1
13 adenylate cyclase binding GO:0008179 9.56 CALM3 CALM1
14 protein phosphatase activator activity GO:0072542 9.55 CALM3 CALM1
15 ion channel binding GO:0044325 9.55 SCN5A KCNQ1 KCNE1 CALM3 CALM1
16 delayed rectifier potassium channel activity GO:0005251 9.54 KCNQ1 KCNH2 KCNE1
17 nitric-oxide synthase regulator activity GO:0030235 9.52 CALM3 CALM1
18 nitric-oxide synthase binding GO:0050998 9.5 SCN5A CALM3 CALM1
19 adenylate cyclase activator activity GO:0010856 9.49 CALM3 CALM1
20 type 3 metabotropic glutamate receptor binding GO:0031800 9.46 CALM3 CALM1
21 N-terminal myristoylation domain binding GO:0031997 9.43 CALM3 CALM1
22 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.43 KCNQ1 KCNH2 KCNE1
23 voltage-gated ion channel activity GO:0005244 9.43 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE1 CACNA1C
24 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 8.92 KCNQ1 KCNJ2 KCNH2 KCNE1

Sources for Long Qt Syndrome 14

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
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