LQT14
MCID: LNG098
MIFTS: 44

Long Qt Syndrome 14 (LQT14)

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Muscle diseases, Rare diseases
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Aliases & Classifications for Long Qt Syndrome 14

MalaCards integrated aliases for Long Qt Syndrome 14:

Name: Long Qt Syndrome 14 57 11 73 28 5 14 71
Lqt14 57 11 73
Long Qt Syndrome, Type 14 38

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
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


Classifications:



External Ids:

Disease Ontology 11 DOID:0110655
OMIM® 57 616247
OMIM Phenotypic Series 57 PS192500
MeSH 43 D008133
ICD10 31 I45.8
UMLS 71 C4015671

Summaries for Long Qt Syndrome 14

OMIM®: 57 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) (Updated 08-Dec-2022)

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

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 CALM1 gene on chromosome 14q32.11.

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 63)
# Related Disease Score Top Affiliating Genes
1 long qt syndrome 15 29.7 TRDN TECRL SNTA1 SCN4B KCNJ2 KCNH2
2 flying phobia 10.2 CALM3 CALM1
3 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.1 TRDN CALM1
4 second-degree atrioventricular block 10.0 SCN5A KCNH2
5 trichothiodystrophy 7, nonphotosensitive 10.0 SCN5A KCNH2
6 familial periodic paralysis 10.0 SCN5A KCNJ2
7 brugada syndrome 1 10.0 SCN5A KCNH2
8 ventricular tachycardia, catecholaminergic polymorphic, 4 9.9 KCNQ1 CALM1
9 ventricular tachycardia, catecholaminergic polymorphic, 3 9.9 TRDN TECRL KCNJ2
10 paramyotonia congenita of von eulenburg 9.9 SCN5A KCNJ2
11 right bundle branch block 9.9 SCN5A KCNH2
12 malignant hyperthermia 9.9 TRDN TECRL SCN5A
13 first-degree atrioventricular block 9.8 SCN5A KCNJ2 KCNH2
14 progressive familial heart block 9.8 SCN5A KCNQ1
15 cardiac conduction defect 9.8 SCN5A KCNQ1
16 diamond-blackfan anemia 3 9.7 SCN5A KCNH2 CALM3 CALM1
17 paroxysmal extreme pain disorder 9.7 SCN5A SCN4B
18 hyperkalemic periodic paralysis 9.7 SCN5A KCNJ2
19 familial short qt syndrome 9.7 KCNQ1 KCNJ2 KCNH2
20 familial long qt syndrome 9.6 SCN5A KCNQ1 KCNH2
21 syncope 9.6 SCN5A KCNQ1 KCNH2
22 ventricular fibrillation, paroxysmal familial, 1 9.6 SCN5A KCNQ1 KCNH2
23 developmental and epileptic encephalopathy 14 9.6 SCN5A KCNQ1 KCNH2
24 noonan syndrome with multiple lentigines 9.6 SCN5A KCNQ1 KCNH2
25 wolff-parkinson-white syndrome 9.6 SCN5A KCNQ1 KCNH2
26 congestive heart failure 9.6 SCN5A KCNQ1 KCNJ2
27 rasopathy 9.5 SCN5A KCNQ1 KCNH2
28 arrhythmogenic right ventricular cardiomyopathy 9.5 SCN5A KCNQ1 KCNH2
29 cardiomyopathy, familial hypertrophic, 1 9.5 SCN5A KCNQ1 KCNH2
30 long qt syndrome 10 9.5 SNTA1 SCN5A SCN4B KCNJ2
31 brugada syndrome 4 9.4 SCN5A KCNQ1 KCNJ2 KCNH2
32 sinoatrial node disease 9.4 SCN5A KCNQ1 KCNJ2 KCNH2
33 third-degree atrioventricular block 9.4 SCN5A KCNQ1 KCNJ2 KCNH2
34 atrioventricular block 9.4 SCN5A KCNQ1 KCNJ2 KCNH2
35 long qt syndrome 11 9.3 SNTA1 SCN4B KCNQ1 KCNJ2
36 lipoprotein quantitative trait locus 9.3 SCN5A KCNQ1 KCNJ2 KCNH2
37 hypokalemic periodic paralysis, type 1 9.1 TRDN SCN5A SCN4B KCNQ1 KCNJ2
38 short qt syndrome 9.1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
39 sudden infant death syndrome 9.0 SNTA1 SCN5A SCN4B KCNQ1 KCNH2
40 cardiac arrest 9.0 TRDN TECRL SCN5A KCNQ1 KCNH2 CALM3
41 heart disease 9.0 TRDN SCN5A KCNQ1 KCNJ2 KCNH2
42 heart conduction disease 8.9 TRDN SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
43 long qt syndrome 5 8.9 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
44 long qt syndrome 6 8.8 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
45 long qt syndrome 13 8.8 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
46 long qt syndrome 12 8.8 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
47 atrial fibrillation 8.8 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
48 intrinsic cardiomyopathy 8.8 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
49 left ventricular noncompaction 8.8 TRDN SNTA1 SCN5A KCNQ1 KCNJ2 KCNH2
50 long qt syndrome 9 8.7 TRDN SNTA1 SCN5A SCN4B KCNQ1 KCNJ2

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:

30 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cardiac arrest 30 Very rare (1%) HP:0001695
2 ventricular fibrillation 30 Very rare (1%) HP:0001663
3 prolonged qtc interval 30 Very rare (1%) HP:0005184
4 t-wave alternans 30 Very rare (1%) HP:0012266
5 prolonged qt interval 30 HP:0001657
6 sudden death 30 HP:0001699

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Long Qt Syndrome 14:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.43 KCNH2 KCNJ2 KCNQ1 SCN5A SNTA1 TRDN
2 behavior/neurological MP:0005386 9.23 CALM1 KCNJ2 KCNQ1 SCN4B SCN5A SNTA1

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 28 CALM1

Anatomical Context for Long Qt Syndrome 14

Organs/tissues related to Long Qt Syndrome 14:

MalaCards : Heart
ODiseA: Heart-Ventricle, Heart

Publications for Long Qt Syndrome 14

Articles related to Long Qt Syndrome 14:

(show all 16)
# 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. 57 5
26969752 2016
2
A mutation in CALM1 encoding calmodulin in familial idiopathic ventricular fibrillation in childhood and adolescence. 57 5
24076290 2014
3
Calmodulin mutations associated with recurrent cardiac arrest in infants. 57 5
23388215 2013
4
Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry. 57
31170290 2019
5
Genetic Mosaicism in Calmodulinopathy. 5
31454269 2019
6
Elucidating arrhythmogenic mechanisms of long-QT syndrome CALM1-F142L mutation in patient-specific induced pluripotent stem cell-derived cardiomyocytes. 5
28158429 2017
7
Novel calmodulin mutations associated with congenital long QT syndrome affect calcium current in human cardiomyocytes. 5
27374306 2016
8
Arrhythmogenic calmodulin mutations impede activation of small-conductance calcium-activated potassium current. 5
27165696 2016
9
Distinctive malfunctions of calmodulin mutations associated with heart RyR2-mediated arrhythmic disease. 5
26164367 2015
10
Arrhythmogenic Calmodulin Mutations Affect the Activation and Termination of Cardiac Ryanodine Receptor-mediated Ca2+ Release. 5
26309258 2015
11
Calmodulin mutations causing catecholaminergic polymorphic ventricular tachycardia confer opposing functional and biophysical molecular changes. 5
25557436 2015
12
Calmodulin mutations associated with long QT syndrome prevent inactivation of cardiac L-type Ca(2+) currents and promote proarrhythmic behavior in ventricular myocytes. 5
24816216 2014
13
Altered RyR2 regulation by the calmodulin F90L mutation associated with idiopathic ventricular fibrillation and early sudden cardiac death. 5
25036739 2014
14
Divergent regulation of ryanodine receptor 2 calcium release channels by arrhythmogenic human calmodulin missense mutants. 5
24563457 2014
15
Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death. 5
23040497 2012
16
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 57
15840476 2005

Variations for Long Qt Syndrome 14

ClinVar genetic disease variations for Long Qt Syndrome 14:

5 (show top 50) (show all 51)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CALM1 NM_006888.6(CALM1):c.389A>G (p.Asp130Gly) SNV Pathogenic
183230 rs730882252 GRCh37: 14:90870826-90870826
GRCh38: 14:90404482-90404482
2 CALM1 NM_006888.6(CALM1):c.426C>G (p.Phe142Leu) SNV Pathogenic
183231 rs199744595 GRCh37: 14:90871037-90871037
GRCh38: 14:90404693-90404693
3 CALM1 NM_006888.6(CALM1):c.422A>G (p.Glu141Gly) SNV Pathogenic
974612 rs1887120112 GRCh37: 14:90871033-90871033
GRCh38: 14:90404689-90404689
4 CALM1 NM_006888.6(CALM1):c.422A>T (p.Glu141Val) SNV Pathogenic
974613 rs1887120112 GRCh37: 14:90871033-90871033
GRCh38: 14:90404689-90404689
5 CALM1 NM_006888.6(CALM1):c.395A>G (p.Asp132Gly) SNV Pathogenic
1362982 GRCh37: 14:90870832-90870832
GRCh38: 14:90404488-90404488
6 CALM1 NM_006888.6(CALM1):c.394G>A (p.Asp132Asn) SNV Pathogenic
639902 rs1595102640 GRCh37: 14:90870831-90870831
GRCh38: 14:90404487-90404487
7 CALM1 NM_006888.6(CALM1):c.395A>T (p.Asp132Val) SNV Pathogenic
948239 rs1887113791 GRCh37: 14:90870832-90870832
GRCh38: 14:90404488-90404488
8 CALM1 NM_006888.6(CALM1):c.426C>A (p.Phe142Leu) SNV Pathogenic
961658 rs199744595 GRCh37: 14:90871037-90871037
GRCh38: 14:90404693-90404693
9 CALM1 NM_006888.6(CALM1):c.424T>C (p.Phe142Leu) SNV Pathogenic
426161 rs1085307479 GRCh37: 14:90871035-90871035
GRCh38: 14:90404691-90404691
10 CALM1 NM_006888.6(CALM1):c.293A>G (p.Asn98Ser) SNV Pathogenic
39758 rs267607277 GRCh37: 14:90870730-90870730
GRCh38: 14:90404386-90404386
11 CALM1 NM_006888.6(CALM1):c.398G>A (p.Gly133Glu) SNV Likely Pathogenic
542137 rs1555366045 GRCh37: 14:90870835-90870835
GRCh38: 14:90404491-90404491
12 CALM1 NM_006888.6(CALM1):c.268T>C (p.Phe90Leu) SNV Likely Pathogenic
183232 rs730882253 GRCh37: 14:90870295-90870295
GRCh38: 14:90403951-90403951
13 CALM1 NM_006888.6(CALM1):c.328A>C (p.Met110Leu) SNV Uncertain Significance
1424459 GRCh37: 14:90870765-90870765
GRCh38: 14:90404421-90404421
14 CALM1 NC_000014.8:g.(?_90870713)_(90871071_?)dup DUP Uncertain Significance
1062650 GRCh37: 14:90870713-90871071
GRCh38:
15 CALM1 NM_006888.6(CALM1):c.78C>T (p.Gly26=) SNV Uncertain Significance
475383 rs1555365884 GRCh37: 14:90867646-90867646
GRCh38: 14:90401302-90401302
16 CALM1 NM_006888.6(CALM1):c.157A>G (p.Ile53Val) SNV Uncertain Significance
475380 rs1555365887 GRCh37: 14:90867725-90867725
GRCh38: 14:90401381-90401381
17 CALM1 NM_006888.6(CALM1):c.301A>G (p.Ile101Val) SNV Uncertain Significance
644229 rs1595102592 GRCh37: 14:90870738-90870738
GRCh38: 14:90404394-90404394
18 CALM1 NM_006888.6(CALM1):c.106G>C (p.Val36Leu) SNV Uncertain Significance
845207 rs1887015236 GRCh37: 14:90867674-90867674
GRCh38: 14:90401330-90401330
19 CALM1 NM_006888.6(CALM1):c.280G>C (p.Asp94His) SNV Uncertain Significance
945682 rs1887099943 GRCh37: 14:90870307-90870307
GRCh38: 14:90403963-90403963
20 CALM1 NM_006888.6(CALM1):c.358G>A (p.Glu120Lys) SNV Uncertain Significance
1718023 GRCh37: 14:90870795-90870795
GRCh38: 14:90404451-90404451
21 CALM1 NM_006888.6(CALM1):c.72C>T (p.Gly24=) SNV Uncertain Significance
162063 rs267607278 GRCh37: 14:90867640-90867640
GRCh38: 14:90401296-90401296
22 CALM1 NM_006888.6(CALM1):c.411C>G (p.Val137=) SNV Likely Benign
542139 rs749827346 GRCh37: 14:90870848-90870848
GRCh38: 14:90404504-90404504
23 CALM1 NM_006888.6(CALM1):c.18C>T (p.Thr6=) SNV Likely Benign
391901 rs755065015 GRCh37: 14:90866423-90866423
GRCh38: 14:90400079-90400079
24 CALM1 NM_006888.6(CALM1):c.225A>G (p.Arg75=) SNV Likely Benign
1620746 GRCh37: 14:90870252-90870252
GRCh38: 14:90403908-90403908
25 CALM1 NM_006888.6(CALM1):c.324C>T (p.His108=) SNV Likely Benign
389896 rs139706811 GRCh37: 14:90870761-90870761
GRCh38: 14:90404417-90404417
26 CALM1 NM_006888.6(CALM1):c.69T>C (p.Asp23=) SNV Likely Benign
475382 rs144339242 GRCh37: 14:90867637-90867637
GRCh38: 14:90401293-90401293
27 CALM1 NM_006888.6(CALM1):c.273A>G (p.Arg91=) SNV Likely Benign
542138 rs1211887414 GRCh37: 14:90870300-90870300
GRCh38: 14:90403956-90403956
28 CALM1 NM_006888.6(CALM1):c.402C>T (p.Asp134=) SNV Likely Benign
1483238 GRCh37: 14:90870839-90870839
GRCh38: 14:90404495-90404495
29 CALM1 NM_006888.6(CALM1):c.421+7_421+10del DEL Likely Benign
423014 rs771894805 GRCh37: 14:90870863-90870866
GRCh38: 14:90404519-90404522
30 CALM1 NM_006888.6(CALM1):c.34+16C>T SNV Likely Benign
1576161 GRCh37: 14:90866455-90866455
GRCh38: 14:90400111-90400111
31 CALM1 NM_006888.6(CALM1):c.183T>C (p.Asn61=) SNV Likely Benign
1532952 GRCh37: 14:90870210-90870210
GRCh38: 14:90403866-90403866
32 CALM1 NM_006888.6(CALM1):c.421+8_421+9del DEL Likely Benign
1579436 GRCh37: 14:90870866-90870867
GRCh38: 14:90404522-90404523
33 CALM1 NM_006888.6(CALM1):c.285+17A>G SNV Likely Benign
1591527 GRCh37: 14:90870329-90870329
GRCh38: 14:90403985-90403985
34 CALM1 NM_006888.6(CALM1):c.3+13T>C SNV Likely Benign
1625710 GRCh37: 14:90863590-90863590
GRCh38: 14:90397246-90397246
35 CALM1 NM_006888.6(CALM1):c.390T>C (p.Asp130=) SNV Likely Benign
1592268 GRCh37: 14:90870827-90870827
GRCh38: 14:90404483-90404483
36 CALM1 NM_006888.6(CALM1):c.118C>T (p.Leu40=) SNV Likely Benign
1632430 GRCh37: 14:90867686-90867686
GRCh38: 14:90401342-90401342
37 CALM1 NM_006888.6(CALM1):c.285+20G>T SNV Likely Benign
1601848 GRCh37: 14:90870332-90870332
GRCh38: 14:90403988-90403988
38 CALM1 NM_006888.6(CALM1):c.108C>T (p.Val36=) SNV Likely Benign
1639895 GRCh37: 14:90867676-90867676
GRCh38: 14:90401332-90401332
39 CALM1 NM_006888.6(CALM1):c.417T>C (p.Tyr139=) SNV Likely Benign
1547633 GRCh37: 14:90870854-90870854
GRCh38: 14:90404510-90404510
40 CALM1 NM_006888.6(CALM1):c.422-20T>C SNV Likely Benign
1660141 GRCh37: 14:90871013-90871013
GRCh38: 14:90404669-90404669
41 CALM1 NM_006888.6(CALM1):c.87A>C (p.Thr29=) SNV Likely Benign
1671658 GRCh37: 14:90867655-90867655
GRCh38: 14:90401311-90401311
42 CALM1 NM_006888.6(CALM1):c.34+12A>C SNV Likely Benign
1568949 GRCh37: 14:90866451-90866451
GRCh38: 14:90400107-90400107
43 CALM1 NM_006888.6(CALM1):c.4-9T>A SNV Likely Benign
1086423 GRCh37: 14:90866400-90866400
GRCh38: 14:90400056-90400056
44 CALM1 NM_006888.6(CALM1):c.421+6dup DUP Likely Benign
1090568 GRCh37: 14:90870860-90870861
GRCh38: 14:90404516-90404517
45 CALM1 NM_006888.6(CALM1):c.426C>T (p.Phe142=) SNV Likely Benign
1122289 GRCh37: 14:90871037-90871037
GRCh38: 14:90404693-90404693
46 CALM1 NM_006888.6(CALM1):c.267A>G (p.Ala89=) SNV Likely Benign
1127747 GRCh37: 14:90870294-90870294
GRCh38: 14:90403950-90403950
47 CALM1 NM_006888.6(CALM1):c.90A>C (p.Thr30=) SNV Likely Benign
1136143 GRCh37: 14:90867658-90867658
GRCh38: 14:90401314-90401314
48 CALM1 NM_006888.6(CALM1):c.178+18A>G SNV Benign
389684 rs201018787 GRCh37: 14:90867764-90867764
GRCh38: 14:90401420-90401420
49 CALM1 NM_006888.6(CALM1):c.303C>T (p.Ile101=) SNV Benign
475381 rs143503733 GRCh37: 14:90870740-90870740
GRCh38: 14:90404396-90404396
50 LOC112272566, CALM1 NM_006888.5(CALM1):c.-218C>T SNV Benign
1164456 GRCh37: 14:90863357-90863357
GRCh38: 14:90397013-90397013

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 rs1085307479
3 CALM1 p.Glu141Gly VAR_078263
4 CALM1 p.Asp130Gly VAR_078542 rs730882252
5 CALM1 p.Glu141Val VAR_083814

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 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.75 CALM1 CALM3 KCNH2 KCNJ2 KCNQ1
2
Show member pathways
12.32 SCN5A SCN4B CALM3 CALM1
3
Show member pathways
12.24 TRDN CALM3 CALM1
4 12.08 KCNQ1 KCNJ2 KCNH2 CALM3 CALM1
5
Show member pathways
11.96 TRDN SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
6 11.86 SNTA1 SCN5A SCN4B KCNQ1 KCNH2
7
Show member pathways
11.85 KCNQ1 KCNJ2 KCNH2
8 11.24 CALM3 CALM1
9
Show member pathways
11.17 CALM3 CALM1
10
Show member pathways
11.15 CALM3 CALM1
11 11.1 CALM3 CALM1
12 11.09 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
13 11.04 SCN5A SCN4B
14 11 CALM3 CALM1
15 10.99 SCN5A SCN4B CALM3 CALM1
16 10.96 CALM3 CALM1
17 10.83 CALM3 CALM1
18 10.77 CALM3 CALM1
19 10.57 KCNQ1 KCNJ2
20 10.21 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 calcium channel complex GO:0034704 9.67 CALM3 CALM1
2 catalytic complex GO:1902494 9.62 CALM3 CALM1
3 voltage-gated sodium channel complex GO:0001518 9.56 SCN5A SCN4B
4 lateral plasma membrane GO:0016328 9.55 SNTA1 SCN5A KCNQ1
5 intercalated disc GO:0014704 9.43 SCN5A SCN4B KCNJ2
6 voltage-gated potassium channel complex GO:0008076 9.32 KCNQ1 KCNJ2 KCNH2 CALM3 CALM1

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

(show all 45)
# Name GO ID Score Top Affiliating Genes
1 potassium ion transmembrane transport GO:0071805 10.16 KCNQ1 KCNJ2 KCNH2
2 sodium ion transport GO:0006814 10.05 KCNQ1 SCN4B SCN5A
3 potassium ion import across plasma membrane GO:1990573 10.04 KCNH2 KCNJ2 KCNQ1
4 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 10.02 TRDN CALM3 CALM1
5 cardiac muscle cell action potential involved in contraction GO:0086002 10.01 SCN5A SCN4B KCNJ2
6 positive regulation of protein autophosphorylation GO:0031954 10 CALM3 CALM1
7 positive regulation of potassium ion transmembrane transport GO:1901381 10 KCNQ1 KCNJ2 KCNH2
8 potassium ion homeostasis GO:0055075 9.99 KCNQ1 KCNH2
9 regulation of cardiac muscle contraction GO:0055117 9.99 CALM3 CALM1
10 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.99 CALM3 CALM1
11 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.99 KCNJ2 SCN4B SCN5A
12 negative regulation of peptidyl-threonine phosphorylation GO:0010801 9.98 CALM3 CALM1
13 regulation of calcium-mediated signaling GO:0050848 9.98 CALM3 CALM1
14 membrane depolarization during action potential GO:0086010 9.97 SCN5A KCNH2
15 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.97 CALM3 CALM1
16 positive regulation of sodium ion transport GO:0010765 9.97 SCN5A SCN4B
17 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.97 TRDN CALM3 CALM1
18 potassium ion export across plasma membrane GO:0097623 9.96 KCNQ1 KCNH2
19 potassium ion transport GO:0006813 9.96 KCNQ1 KCNJ2 KCNH2
20 monoatomic ion transport GO:0006811 9.96 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
21 detection of calcium ion GO:0005513 9.95 CALM3 CALM1
22 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.95 KCNQ1 KCNH2
23 regulation of membrane repolarization GO:0060306 9.95 KCNQ1 KCNJ2 KCNH2
24 regulation of cardiac muscle cell contraction GO:0086004 9.94 SCN5A KCNJ2
25 regulation of sodium ion transmembrane transport GO:1902305 9.93 SNTA1 SCN5A
26 atrial cardiac muscle cell action potential GO:0086014 9.93 KCNQ1 SCN5A
27 membrane repolarization during action potential GO:0086011 9.93 KCNQ1 KCNJ2 KCNH2
28 regulation of cell communication by electrical coupling involved in cardiac conduction GO:1901844 9.92 CALM1 CALM3
29 cardiac muscle contraction GO:0060048 9.92 SCN5A SCN4B KCNQ1 KCNH2
30 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.91 SCN5A KCNQ1
31 negative regulation of high voltage-gated calcium channel activity GO:1901842 9.91 CALM3 CALM1
32 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.91 KCNQ1 KCNJ2 KCNH2
33 regulation of cardiac muscle cell action potential GO:0098901 9.9 CALM3 CALM1
34 positive regulation of cyclic-nucleotide phosphodiesterase activity GO:0051343 9.89 CALM3 CALM1
35 negative regulation of calcium ion export across plasma membrane GO:1905913 9.88 CALM3 CALM1
36 AV node cell action potential GO:0086016 9.88 SCN5A SCN4B
37 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 9.88 CALM1 CALM3 TRDN
38 ventricular cardiac muscle cell action potential GO:0086005 9.86 SNTA1 SCN5A KCNQ1 KCNH2
39 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.85 CALM1 CALM3
40 regulation of monoatomic ion transmembrane transport GO:0034765 9.85 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
41 regulation of heart rate by cardiac conduction GO:0086091 9.85 KCNH2 KCNJ2 KCNQ1 SCN4B SCN5A
42 membrane repolarization GO:0086009 9.81 KCNQ1 KCNH2
43 negative regulation of calcium ion transmembrane transporter activity GO:1901020 9.62 CALM3 CALM1
44 regulation of heart rate GO:0002027 9.61 SNTA1 SCN5A KCNQ1 CALM3 CALM1
45 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.32 SNTA1 SCN5A SCN4B KCNQ1 KCNH2

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 scaffold protein binding GO:0097110 9.91 SCN5A KCNQ1 KCNH2
2 enzyme regulator activity GO:0030234 9.87 CALM3 CALM1
3 inward rectifier potassium channel activity GO:0005242 9.86 KCNJ2 KCNH2
4 voltage-gated sodium channel activity GO:0005248 9.85 SCN5A SCN4B
5 protein phosphatase activator activity GO:0072542 9.83 CALM3 CALM1
6 titin binding GO:0031432 9.8 CALM3 CALM1
7 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.78 KCNQ1 KCNH2
8 adenylate cyclase binding GO:0008179 9.76 CALM3 CALM1
9 nitric-oxide synthase binding GO:0050998 9.73 SNTA1 SCN5A CALM3
10 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.71 SCN4B SCN5A
11 monoatomic ion channel activity GO:0005216 9.69 KCNH2 KCNQ1 SCN5A
12 adenylate cyclase activator activity GO:0010856 9.67 CALM3 CALM1
13 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.63 KCNH2 KCNJ2 KCNQ1
14 N-terminal myristoylation domain binding GO:0031997 9.62 CALM3 CALM1
15 sodium channel activity GO:0005272 9.54 SCN5A SCN4B
16 voltage-gated monoatomic ion channel activity GO:0005244 9.5 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
17 transmembrane transporter binding GO:0044325 9.47 TRDN SNTA1 SCN5A SCN4B KCNQ1 CALM3

Sources for Long Qt Syndrome 14

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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