CPVT
MCID: CTC001
MIFTS: 64

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)

Categories: Cancer diseases, Cardiovascular diseases, Endocrine diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Catecholaminergic Polymorphic Ventricular Tachycardia

MalaCards integrated aliases for Catecholaminergic Polymorphic Ventricular Tachycardia:

Name: Catecholaminergic Polymorphic Ventricular Tachycardia 12 25 20 43 58 36 29 6 15 37
Cpvt 25 20 43 58
Catecholamine-Induced Polymorphic Ventricular Tachycardia 25 20 43
Stress-Induced Polymorphic Ventricular Tachycardia 20 70
Familial Polymorphic Ventricular Tachycardia 20 43
Malignant Paroxysmal Ventricular Tachycardia 20 58
Bidirectional Ventricular Tachycardia Induced by Catecholamine 58
Polymorphic Ventricular Tachycardia Induced by Catecholamines 58
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 70
Ventricular Tachycardia, Catecholaminergic Polymorphic 54
Bidirectional Tachycardia Induced by Catecholamines 43
Bidirectional Tachycardia Induced by Catecholamine 20
Polymorphic Catecholergic Ventricular Tachycardia 20
Double Tachycardia Induced by Catecholamines 20
Multifocal Ventricular Premature Beats 20
Multifocal Premature Ventricular Beats 70
Familial Ventricular Tachycardia 70
Syncopal Paroxysmal Tachycardia 20
Multifocal Pvcs 70
Fpvt 43

Characteristics:

Orphanet epidemiological data:

58
catecholaminergic polymorphic ventricular tachycardia
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000 (Europe); Age of onset: Childhood; Age of death: any age;

GeneReviews:

25
Penetrance The mean penetrance of ryr2 pathogenic variants is 83% [author, unpublished data]. therefore, asymptomatic individuals with ryr2-related cpvt are a minority. too few individuals with casq2, calm1, and trdn have been reported to date to allow a robust estimate of the penetrance. all described individuals do show the clinical phenotype.

Classifications:



External Ids:

Disease Ontology 12 DOID:0060674
KEGG 36 H01019
ICD10 32 I47.2
ICD10 via Orphanet 33 I47.2
UMLS via Orphanet 71 C1631597
Orphanet 58 ORPHA3286
UMLS 70 C0264903 C0340485 C1631597 more

Summaries for Catecholaminergic Polymorphic Ventricular Tachycardia

GARD : 20 Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a genetic disorder that causes an abnormally fast and irregular heart rhythm in response to physical activity or emotional stress. Signs and symptoms include light-headedness, dizziness, and fainting. Symptoms most often develop between 7 to 9 years of age. If untreated CPVT can cause a heart attack and death. CPVT is caused by mutations in the RYR2 or CASQ2 genes. When a RYR2 gene mutation is involved, the condition is passed through families in an autosomal dominant fashion. When CASQ2 gene mutations are involved, the condition is inherited in an autosomal recessive fashion. In some cases the underlying cause can not be determined. Beta blockers are used to treat CPVT. An Implantable Cardioverter Defibrillator (ICD) may also be needed.

MalaCards based summary : Catecholaminergic Polymorphic Ventricular Tachycardia, also known as cpvt, is related to ventricular tachycardia, catecholaminergic polymorphic, 3 and ventricular tachycardia, catecholaminergic polymorphic, 2, and has symptoms including seizures and syncope. An important gene associated with Catecholaminergic Polymorphic Ventricular Tachycardia is CASQ2 (Calsequestrin 2), and among its related pathways/superpathways are Calcium signaling pathway and Adrenergic signaling in cardiomyocytes. The drugs Atropine and Metoprolol have been mentioned in the context of this disorder. Affiliated tissues include heart, cardiac myocytes and skeletal muscle, and related phenotypes are ventricular tachycardia and vertigo

Disease Ontology : 12 A heart conduction disease characterized by adrenergically induced ventricular tachycardia manifesting as syncope and sudden death during exercise, stress or catecholamine infusion without the presence of structural cardiac abnormalities.

MedlinePlus Genetics : 43 Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a condition characterized by an abnormal heart rhythm (arrhythmia). As the heart rate increases in response to physical activity or emotional stress, it can trigger an abnormally fast heartbeat called ventricular tachycardia. Episodes of ventricular tachycardia can cause light-headedness, dizziness, and fainting (syncope). In people with CPVT, these episodes typically begin in childhood.If CPVT is not recognized and treated, an episode of ventricular tachycardia may cause the heart to stop beating (cardiac arrest), leading to sudden death. Researchers suspect that CPVT may be a significant cause of sudden death in children and young adults without recognized heart abnormalities.

KEGG : 36 Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a highly lethal form of inherited primary electrical myocardial disease characterized by exercise- and stress-related adrenergic ventricular tachycardia without structural cardiac abnormalities. It manifests as syncope and sudden death and can be caused by mutations in the cardiac ryanodine receptor gene (RYR2) accounting for an autosomal dominant form (CPVT1) or mutations in the cardiac calsequestrin gene CASQ2 accounting for an autosomal recessive form (CPVT2).

Wikipedia : 73 Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited genetic disorder that... more...

GeneReviews: NBK1289

Related Diseases for Catecholaminergic Polymorphic Ventricular Tachycardia

Diseases in the Catecholaminergic Polymorphic Ventricular Tachycardia family:

Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 Catecholaminergic Polymorphic Ventricular Tachycardia 5

Diseases related to Catecholaminergic Polymorphic Ventricular Tachycardia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 128)
# Related Disease Score Top Affiliating Genes
1 ventricular tachycardia, catecholaminergic polymorphic, 3 33.5 TECRL RYR2 KCNJ2 CASQ2
2 ventricular tachycardia, catecholaminergic polymorphic, 2 33.3 TRDN RYR2 RYR1 FKBP1B CASQ2 ASPH
3 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 33.3 TRDN SCN5A RYR2 RYR1 PKP2 KCNJ2
4 cardiac arrhythmia, ankyrin-b-related 32.7 SCN5A SCN4B RYR2 KCNJ2 KCNH2 CACNA1C
5 syncope 32.4 SCN5A RYR2 KCNH2
6 cardiac conduction defect 32.2 SCN5A RYR2 MYBPC3 DSG2 CACNA1C
7 ventricular fibrillation, paroxysmal familial, 1 32.1 SCN5A RYR2 KCNH2 CACNA1C
8 cardiac arrest 31.7 TRDN TECRL SCN5A RYR2 MYBPC3 KCNH2
9 cardiac arrhythmia 31.6 SCN5A RYR2 PKP2 KCNH2 CACNA1C ANK2
10 sick sinus syndrome 31.6 SCN5A CACNA1C ANK2
11 sinoatrial node disease 31.5 SCN5A RYR2 KCNJ2 KCNH2 CACNA1C ANK2
12 familial short qt syndrome 31.4 KCNJ2 KCNH2
13 atrial standstill 1 31.3 SCN5A RYR2 PKP2 MYBPC3 DSG2
14 familial long qt syndrome 31.3 SCN5A SCN4B KCNH2 CALM3 CALM2 CALM1
15 short qt syndrome 31.2 SCN5A RYR2 KCNJ2 KCNH2 CASQ2 CACNA1C
16 right bundle branch block 31.2 SCN5A PKP2 KCNH2 DSG2 CACNA1C
17 atrial fibrillation 31.1 SCN5A SCN4B RYR2 MYBPC3 KCNJ2 KCNH2
18 andersen cardiodysrhythmic periodic paralysis 31.1 TRDN TECRL SCN5A SCN4B RYR2 KCNJ2
19 long qt syndrome 31.1 TRDN TECRL SCN5A SCN4B RYR2 PKP2
20 arrhythmogenic right ventricular dysplasia, familial, 2 31.1 TRDN RYR2 RYR1 PKP2 FKBP1B DSG2
21 arrhythmogenic right ventricular cardiomyopathy 31.1 SCN5A RYR2 RYR1 PKP2 KCNH2 DSG2
22 jervell and lange-nielsen syndrome 1 31.0 SCN5A SCN4B KCNJ2 KCNH2 CASQ2 CACNA1C
23 long qt syndrome 3 31.0 TRDN SCN5A SCN4B RYR2 KCNJ2 KCNH2
24 malignant hyperthermia 31.0 TRDN SCN5A RYR2 RYR1 KCNH2 FKBP1B
25 progressive familial heart block, type ia 31.0 SCN5A ANK2
26 left ventricular noncompaction 30.9 SCN5A RYR2 PKP2 MYBPC3 KCNJ2 KCNH2
27 left bundle branch hemiblock 30.9 SCN5A RYR2 PKP2 DSG2
28 brugada syndrome 1 30.9 SCN5A RYR2 MYBPC3 KCNH2 AKAP9
29 heart disease 30.8 TRDN SCN5A RYR2 RYR1 PKP2 MYBPC3
30 brugada syndrome 30.8 TRDN TECRL SCN5A SCN4B RYR2 PKP2
31 long qt syndrome 5 30.8 SCN5A SCN4B KCNJ2 KCNH2 CACNA1C ANK2
32 long qt syndrome 6 30.8 SCN5A SCN4B KCNJ2 KCNH2 CACNA1C ANK2
33 central core disease of muscle 30.7 RYR2 RYR1
34 hypertrophic cardiomyopathy 30.7 SCN5A RYR2 PKP2 MYBPC3 KCNJ2 KCNH2
35 long qt syndrome 14 30.7 TRDN TECRL SCN5A KCNJ2 KCNH2 CALM3
36 dilated cardiomyopathy 30.7 TRDN SCN5A SCN4B RYR2 PKP2 MYBPC3
37 long qt syndrome 2 30.4 TRDN TECRL SCN5A SCN4B RYR2 PKP2
38 long qt syndrome 15 30.3 TRDN TECRL KCNJ2 CALM3 CALM2 CALM1
39 long qt syndrome 1 30.0 TRDN TECRL SCN5A SCN4B RYR2 PKP2
40 ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness 12.0
41 ventricular tachycardia, catecholaminergic polymorphic, 4 11.8
42 catecholaminergic polymorphic ventricular tachycardia 5 11.7
43 ventricular tachycardia, familial 11.4
44 bidirectional tachycardia 10.9
45 idiopathic ventricular fibrillation, non brugada type 10.5 SCN5A RYR2 CACNA1C
46 first-degree atrioventricular block 10.5 SCN5A KCNJ2 KCNH2
47 third-degree atrioventricular block 10.5 SCN5A KCNJ2 KCNH2
48 arrhythmogenic right ventricular dysplasia, familial, 3 10.5 RYR2 PKP2 DSG2
49 arrhythmogenic right ventricular dysplasia, familial, 4 10.4 RYR2 PKP2 DSG2
50 arrhythmogenic right ventricular dysplasia, familial, 6 10.4 RYR2 PKP2 DSG2

Graphical network of the top 20 diseases related to Catecholaminergic Polymorphic Ventricular Tachycardia:



Diseases related to Catecholaminergic Polymorphic Ventricular Tachycardia

Symptoms & Phenotypes for Catecholaminergic Polymorphic Ventricular Tachycardia

Human phenotypes related to Catecholaminergic Polymorphic Ventricular Tachycardia:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ventricular tachycardia 58 31 hallmark (90%) Very frequent (99-80%) HP:0004756
2 vertigo 58 31 frequent (33%) Frequent (79-30%) HP:0002321
3 sudden cardiac death 58 31 occasional (7.5%) Occasional (29-5%) HP:0001645
4 syncope 58 31 occasional (7.5%) Occasional (29-5%) HP:0001279

UMLS symptoms related to Catecholaminergic Polymorphic Ventricular Tachycardia:


seizures; syncope

MGI Mouse Phenotypes related to Catecholaminergic Polymorphic Ventricular Tachycardia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.73 ASPH CACNA1C CASQ2 DSG2 FKBP1B KCNH2
2 muscle MP:0005369 9.44 ASPH CACNA1C CASQ2 DSG2 FKBP1B KCNH2

Drugs & Therapeutics for Catecholaminergic Polymorphic Ventricular Tachycardia

Drugs for Catecholaminergic Polymorphic Ventricular Tachycardia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Atropine Approved, Vet_approved 5908-99-6, 51-55-8 174174
2
Metoprolol Approved, Investigational 51384-51-1, 37350-58-6 4171
3
Flecainide Approved, Withdrawn 54143-55-4 3356
4
Nadolol Approved 42200-33-9 39147
5
Propranolol Approved, Investigational 525-66-6 4946
6
Atenolol Approved 29122-68-7 2249
7 Respiratory System Agents
8 Anti-Arrhythmia Agents
9 Anti-Asthmatic Agents
10 Parasympatholytics
11 Cholinergic Agents
12 Cholinergic Antagonists
13 Anesthetics
14 Mydriatics
15 Muscarinic Antagonists
16 Neurotransmitter Agents
17 Bronchodilator Agents
18 Adrenergic beta-Antagonists
19 Sodium Channel Blockers
20 Adrenergic Antagonists
21 Diuretics, Potassium Sparing
22 Adrenergic Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pretreatment With Atropine to Reduce Exercise-triggered Ventricular Ectopy in Patients With Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Completed NCT02927223 Atropine
2 A Prospective Randomized Crossover Trial of Oral Flecainide for Catecholaminergic Polymorphic Ventricular Tachycardia Completed NCT01117454 Flecainide Acetate;Placebo;Beta blocker
3 China Inherited Ventricular Arrhythmias Registry, a Multicenter, Observational and Prospective Study Recruiting NCT03880708
4 Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias (Long QT Syndrome, Brugada Syndrome, CPVT and Early Repolarization Syndrome) Enrolling by invitation NCT02413450

Search NIH Clinical Center for Catecholaminergic Polymorphic Ventricular Tachycardia

Genetic Tests for Catecholaminergic Polymorphic Ventricular Tachycardia

Genetic tests related to Catecholaminergic Polymorphic Ventricular Tachycardia:

# Genetic test Affiliating Genes
1 Catecholaminergic Polymorphic Ventricular Tachycardia 29

Anatomical Context for Catecholaminergic Polymorphic Ventricular Tachycardia

MalaCards organs/tissues related to Catecholaminergic Polymorphic Ventricular Tachycardia:

40
Heart, Cardiac Myocytes, Skeletal Muscle, Placenta, Brain

Publications for Catecholaminergic Polymorphic Ventricular Tachycardia

Articles related to Catecholaminergic Polymorphic Ventricular Tachycardia:

(show top 50) (show all 968)
# Title Authors PMID Year
1
The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis. 61 54 6 25
19926015 2009
2
Search for cardiac calcium cycling gene mutations in familial ventricular arrhythmias resembling catecholaminergic polymorphic ventricular tachycardia. 61 6 54 25
19216760 2009
3
A novel early onset lethal form of catecholaminergic polymorphic ventricular tachycardia maps to chromosome 7p14-p22. 61 54 6 25
17666061 2007
4
Clinical phenotype and functional characterization of CASQ2 mutations associated with catecholaminergic polymorphic ventricular tachycardia. 54 25 6 61
16908766 2006
5
Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients. 61 6 54 25
16272262 2005
6
Absence of calsequestrin 2 causes severe forms of catecholaminergic polymorphic ventricular tachycardia. 54 61 6 25
12386154 2002
7
A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia. 61 6 25
27157848 2016
8
Exon 3 deletion of ryanodine receptor causes left ventricular noncompaction, worsening catecholaminergic polymorphic ventricular tachycardia, and sudden cardiac arrest. 61 6 25
26018045 2015
9
Array comparative genomic hybridization identifies a heterozygous deletion of exon 3 of the RYR2 gene. 6 25 61
25835811 2015
10
Exon 3 deletion of RYR2 encoding cardiac ryanodine receptor is associated with left ventricular non-compaction. 6 25 61
24394973 2014
11
Type 2 ryanodine receptor domain A contains a unique and dynamic α-helix that transitions to a β-strand in a mutant linked with a heritable cardiomyopathy. 25 6 61
23978697 2013
12
Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death. 25 6 61
23040497 2012
13
Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human. 61 6 25
22422768 2012
14
Flecainide therapy reduces exercise-induced ventricular arrhythmias in patients with catecholaminergic polymorphic ventricular tachycardia. 6 25 61
21616285 2011
15
Inherited dysfunction of sarcoplasmic reticulum Ca2+ handling and arrhythmogenesis. 61 6 25
21454795 2011
16
Enhanced store overload-induced Ca2+ release and channel sensitivity to luminal Ca2+ activation are common defects of RyR2 mutations linked to ventricular tachycardia and sudden death. 61 6 25
16239587 2005
17
Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. 61 25 6
12093772 2002
18
Novel calmodulin mutations associated with congenital long QT syndrome affect calcium current in human cardiomyocytes. 25 6
27374306 2016
19
Compound Heterozygous Triadin Mutation Causing Cardiac Arrest in Two Siblings. 6 25
26768964 2016
20
Homozygous/Compound Heterozygous Triadin Mutations Associated With Autosomal-Recessive Long-QT Syndrome and Pediatric Sudden Cardiac Arrest: Elucidation of the Triadin Knockout Syndrome. 25 6
25922419 2015
21
Calmodulin mutations associated with recurrent cardiac arrest in infants. 25 6
23388215 2013
22
Abnormal termination of Ca2+ release is a common defect of RyR2 mutations associated with cardiomyopathies. 25 6
22374134 2012
23
Mice with the R176Q cardiac ryanodine receptor mutation exhibit catecholamine-induced ventricular tachycardia and cardiomyopathy. 61 54 6
16873551 2006
24
Sudden death in familial polymorphic ventricular tachycardia associated with calcium release channel (ryanodine receptor) leak. 25 6
15197150 2004
25
Molecular genetics of exercise-induced polymorphic ventricular tachycardia: identification of three novel cardiac ryanodine receptor mutations and two common calsequestrin 2 amino-acid polymorphisms. 54 61 6
14571276 2003
26
FKBP12.6 deficiency and defective calcium release channel (ryanodine receptor) function linked to exercise-induced sudden cardiac death. 6 54 61
12837242 2003
27
A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel. 6 25
11704930 2001
28
Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). 25 6
11159936 2001
29
Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. 6 54 61
11208676 2001
30
Classification and correlation of RYR2 missense variants in individuals with catecholaminergic polymorphic ventricular tachycardia reveals phenotypic relationships. 6 61
32152366 2020
31
A compound heterozygosity of Tecrl gene confirmed in a catecholaminergic polymorphic ventricular tachycardia family. 6 61
30790670 2019
32
Assessment and Validation of a Phenotype-Enhanced Variant Classification Framework to Promote or Demote RYR2 Missense Variants of Uncertain Significance. 6 61
31112425 2019
33
A Homozygous CASQ2 Mutation in a Japanese Patient with Catecholaminergic Polymorphic Ventricular Tachycardia. 6 61
30729048 2019
34
Yield of the RYR2 Genetic Test in Suspected Catecholaminergic Polymorphic Ventricular Tachycardia and Implications for Test Interpretation. 6 61
29453246 2018
35
The genetics underlying idiopathic ventricular fibrillation: A special role for catecholaminergic polymorphic ventricular tachycardia? 6 61
29032884 2018
36
Nationwide experience of catecholaminergic polymorphic ventricular tachycardia caused by RyR2 mutations. 6 61
28237968 2017
37
Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome. 6 61
28449774 2017
38
RyR2R420Q catecholaminergic polymorphic ventricular tachycardia mutation induces bradycardia by disturbing the coupled clock pacemaker mechanism. 6 61
28422759 2017
39
Integration of 60,000 exomes and ACMG guidelines question the role of Catecholaminergic Polymorphic Ventricular Tachycardia-associated variants. 61 6
27538377 2017
40
TECRL, a new life-threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT. 61 6
27861123 2016
41
Leaky RyR2 channels unleash a brainstem spreading depolarization mechanism of sudden cardiac death. 61 6
27482086 2016
42
Implantable Loop Recorder Monitoring for Refining Management of Children With Inherited Arrhythmia Syndromes. 61 6
27231019 2016
43
Distinctive malfunctions of calmodulin mutations associated with heart RyR2-mediated arrhythmic disease. 6 61
26164367 2015
44
New Family With Catecholaminergic Polymorphic Ventricular Tachycardia Linked to the Triadin Gene. 61 6
26200674 2015
45
Arrhythmogenic Calmodulin Mutations Affect the Activation and Termination of Cardiac Ryanodine Receptor-mediated Ca2+ Release. 61 6
26309258 2015
46
Functional abnormalities in iPSC-derived cardiomyocytes generated from CPVT1 and CPVT2 patients carrying ryanodine or calsequestrin mutations. 6 61
26153920 2015
47
Non-ventricular, Clinical, and Functional Features of the RyR2(R420Q) Mutation Causing Catecholaminergic Polymorphic Ventricular Tachycardia. 6 61
25440180 2015
48
Calmodulin mutations causing catecholaminergic polymorphic ventricular tachycardia confer opposing functional and biophysical molecular changes. 6 61
25557436 2015
49
Gender Differences in the Inheritance Mode of RYR2 Mutations in Catecholaminergic Polymorphic Ventricular Tachycardia Patients. 6 61
26114861 2015
50
A knock-in mouse model of N-terminal R420W mutation of cardiac ryanodine receptor exhibits arrhythmogenesis with abnormal calcium dynamics in cardiomyocytes. 6 61
25193700 2014

Variations for Catecholaminergic Polymorphic Ventricular Tachycardia

ClinVar genetic disease variations for Catecholaminergic Polymorphic Ventricular Tachycardia:

6 (show top 50) (show all 2568)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CASQ2 NM_001232.3(CASQ2):c.919G>C (p.Asp307His) SNV Pathogenic 17610 rs121434549 GRCh37: 1:116247833-116247833
GRCh38: 1:115705212-115705212
2 CASQ2 NM_001232.3(CASQ2):c.500T>A (p.Leu167His) SNV Pathogenic 17612 rs121434550 GRCh37: 1:116280877-116280877
GRCh38: 1:115738256-115738256
3 RYR2 NM_001035.3(RYR2):c.169-198_273+820del Deletion Pathogenic 29879 GRCh37: 1:237493979-237495101
GRCh38: 1:237330679-237331801
4 CASQ2 NM_001232.3(CASQ2):c.62del (p.Glu21fs) Deletion Pathogenic 41042 rs397507555 GRCh37: 1:116311101-116311101
GRCh38: 1:115768480-115768480
5 RYR2 NM_001035.3(RYR2):c.6982C>T (p.Pro2328Ser) SNV Pathogenic 12960 rs121918603 GRCh37: 1:237802368-237802368
GRCh38: 1:237639068-237639068
6 TECRL NM_001010874.5(TECRL):c.331+1G>A SNV Pathogenic 372283 rs1057517699 GRCh37: 4:65194229-65194229
GRCh38: 4:64328511-64328511
7 TECRL NM_001010874.5(TECRL):c.918+3A>G SNV Pathogenic 814027 rs958406908 GRCh37: 4:65147189-65147189
GRCh38: 4:64281471-64281471
8 TRDN NM_006073.4(TRDN):c.176C>G (p.Thr59Arg) SNV Pathogenic 66017 rs397515459 GRCh37: 6:123892124-123892124
GRCh38: 6:123570979-123570979
9 TRDN NM_006073.4(TRDN):c.22+1G>T SNV Pathogenic 915308 GRCh37: 6:123957898-123957898
GRCh38: 6:123636753-123636753
10 RYR2 NM_001035.3(RYR2):c.14711G>A (p.Gly4904Asp) SNV Pathogenic 263679 rs886038888 GRCh37: 1:237993885-237993885
GRCh38: 1:237830585-237830585
11 CASQ2 NM_001232.3(CASQ2):c.339_354del (p.Ser113fs) Deletion Pathogenic 17611 rs786205106 GRCh37: 1:116283415-116283430
GRCh38: 1:115740794-115740809
12 RYR2 NM_001035.3(RYR2):c.7422G>C (p.Arg2474Ser) SNV Pathogenic 12955 rs121918598 GRCh37: 1:237811823-237811823
GRCh38: 1:237648523-237648523
13 RYR2 NM_001035.3(RYR2):c.12312C>G (p.Asn4104Lys) SNV Pathogenic 12956 rs121918599 GRCh37: 1:237947324-237947324
GRCh38: 1:237784024-237784024
14 RYR2 NM_001035.3(RYR2):c.14579C>G (p.Ala4860Gly) SNV Pathogenic 12963 rs121918606 GRCh37: 1:237982481-237982481
GRCh38: 1:237819181-237819181
15 TECRL NM_001010874.5(TECRL):c.1A>G (p.Met1Val) SNV Pathogenic 1028442 GRCh37: 4:65275069-65275069
GRCh38: 4:64409351-64409351
16 TRDN NM_006073.4(TRDN):c.1492G>T (p.Glu498Ter) SNV Pathogenic 1030072 GRCh37: 6:123637620-123637620
GRCh38: 6:123316475-123316475
17 RYR2 NM_001035.3(RYR2):c.14864G>A (p.Gly4955Glu) SNV Pathogenic 449306 rs1553343100 GRCh37: 1:237995907-237995907
GRCh38: 1:237832607-237832607
18 TRDN NM_006073.4(TRDN):c.717del (p.Val240fs) Deletion Pathogenic 1031018 GRCh37: 6:123824940-123824940
GRCh38: 6:123503795-123503795
19 TRDN NM_006073.4(TRDN):c.1051+2T>C SNV Pathogenic 1032404 GRCh37: 6:123759206-123759206
GRCh38: 6:123438061-123438061
20 TRDN NM_006073.4(TRDN):c.1870+1G>A SNV Pathogenic 809987 rs377115913 GRCh37: 6:123580768-123580768
GRCh38: 6:123259623-123259623
21 CASQ2 NM_001232.4(CASQ2):c.715G>T (p.Glu239Ter) SNV Pathogenic 1033371 GRCh37: 1:116269635-116269635
GRCh38: 1:115727014-115727014
22 CASQ2 NM_001232.4(CASQ2):c.737+2T>A SNV Pathogenic 1033372 GRCh37: 1:116269611-116269611
GRCh38: 1:115726990-115726990
23 TECRL NM_001010874.5(TECRL):c.1009del (p.Ala337fs) Deletion Pathogenic 1034364 GRCh37: 4:65145873-65145873
GRCh38: 4:64280155-64280155
24 RYR2 NM_001035.3(RYR2):c.6737C>T (p.Ser2246Leu) SNV Pathogenic 12954 rs121918597 GRCh37: 1:237798237-237798237
GRCh38: 1:237634937-237634937
25 RYR2 NM_001035.3(RYR2):c.13489C>T (p.Arg4497Cys) SNV Pathogenic 12957 rs121918600 GRCh37: 1:237954741-237954741
GRCh38: 1:237791441-237791441
26 RYR2 NM_001035.3(RYR2):c.12602A>G (p.Gln4201Arg) SNV Pathogenic 12962 rs121918605 GRCh37: 1:237947614-237947614
GRCh38: 1:237784314-237784314
27 CASQ2 NM_001232.3(CASQ2):c.97C>T (p.Arg33Ter) SNV Pathogenic 41043 rs397507556 GRCh37: 1:116311066-116311066
GRCh38: 1:115768445-115768445
28 TRDN NM_006073.4(TRDN):c.53_56del (p.Asp18fs) Deletion Pathogenic 66015 rs768049331 GRCh37: 6:123892244-123892247
GRCh38: 6:123571099-123571102
29 TRDN NM_006073.4(TRDN):c.613C>T (p.Gln205Ter) SNV Pathogenic 66016 rs397515458 GRCh37: 6:123825044-123825044
GRCh38: 6:123503899-123503899
30 TECRL NM_001010874.5(TECRL):c.214C>T (p.Gln72Ter) SNV Pathogenic 1034366 GRCh37: 4:65274856-65274856
GRCh38: 4:64409138-64409138
31 RYR2 NM_001035.3(RYR2):c.1298T>C (p.Leu433Pro) SNV Pathogenic 12959 rs121918602 GRCh37: 1:237617696-237617696
GRCh38: 1:237454396-237454396
32 RYR2 NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp) SNV Pathogenic 201214 rs190140598 GRCh37: 1:237608788-237608788
GRCh38: 1:237445488-237445488
33 RYR2 NM_001035.3(RYR2):c.527G>A (p.Arg176Gln) SNV Pathogenic 201194 rs794728708 GRCh37: 1:237540686-237540686
GRCh38: 1:237377386-237377386
34 RYR2 NM_001035.3(RYR2):c.6916G>A (p.Val2306Ile) SNV Pathogenic 201387 rs794728746 GRCh37: 1:237801780-237801780
GRCh38: 1:237638480-237638480
35 TECRL NM_001010874.5(TECRL):c.587G>A (p.Arg196Gln) SNV Pathogenic 372284 rs773204795 GRCh37: 4:65175614-65175614
GRCh38: 4:64309896-64309896
36 RYR2 NM_001035.3(RYR2):c.11836G>A (p.Gly3946Ser) SNV Pathogenic 201315 rs794728777 GRCh37: 1:237942026-237942026
GRCh38: 1:237778726-237778726
37 RYR2 NM_001035.3(RYR2):c.230C>T (p.Ala77Val) SNV Pathogenic 404190 rs1060500142 GRCh37: 1:237494239-237494239
GRCh38: 1:237330939-237330939
38 RYR2 NM_001035.3(RYR2):c.6737C>T (p.Ser2246Leu) SNV Pathogenic 12954 rs121918597 GRCh37: 1:237798237-237798237
GRCh38: 1:237634937-237634937
39 TRDN NM_006073.4(TRDN):c.618del (p.Ala208fs) Deletion Pathogenic 408737 rs1060502114 GRCh37: 6:123825039-123825039
GRCh38: 6:123503894-123503894
40 RYR2 NM_001035.3(RYR2):c.14311G>A (p.Val4771Ile) SNV Pathogenic 201357 rs794728804 GRCh37: 1:237972213-237972213
GRCh38: 1:237808913-237808913
41 CASQ2 NM_001232.3(CASQ2):c.923C>T (p.Pro308Leu) SNV Pathogenic 190755 rs139228801 GRCh37: 1:116247829-116247829
GRCh38: 1:115705208-115705208
42 RYR2 NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp) SNV Pathogenic 201214 rs190140598 GRCh37: 1:237608788-237608788
GRCh38: 1:237445488-237445488
43 RYR2 NM_001035.3(RYR2):c.527G>A (p.Arg176Gln) SNV Pathogenic 201194 rs794728708 GRCh37: 1:237540686-237540686
GRCh38: 1:237377386-237377386
44 RYR2 NM_001035.3(RYR2):c.14590G>T (p.Gly4864Cys) SNV Pathogenic 463579 rs1553339086 GRCh37: 1:237982492-237982492
GRCh38: 1:237819192-237819192
45 TRDN NM_006073.4(TRDN):c.1934T>G (p.Leu645Ter) SNV Pathogenic 532311 rs747836980 GRCh37: 6:123576243-123576243
GRCh38: 6:123255098-123255098
46 TRDN NM_006073.4(TRDN):c.573dup (p.Lys192fs) Duplication Pathogenic 532312 rs1554251609 GRCh37: 6:123833484-123833485
GRCh38: 6:123512339-123512340
47 TRDN NM_006073.4(TRDN):c.1806del (p.Gly603fs) Deletion Pathogenic 532317 rs1381728472 GRCh37: 6:123586463-123586463
GRCh38: 6:123265318-123265318
48 TRDN NM_006073.4(TRDN):c.1282C>T (p.Arg428Ter) SNV Pathogenic 532333 rs202219343 GRCh37: 6:123687319-123687319
GRCh38: 6:123366174-123366174
49 TRDN NM_006073.4(TRDN):c.568dup (p.Ile190fs) Duplication Pathogenic 225497 rs1085307100 GRCh37: 6:123833489-123833490
GRCh38: 6:123512344-123512345
50 CASQ2 NM_001232.3(CASQ2):c.97C>T (p.Arg33Ter) SNV Pathogenic 41043 rs397507556 GRCh37: 1:116311066-116311066
GRCh38: 1:115768445-115768445

Expression for Catecholaminergic Polymorphic Ventricular Tachycardia

Search GEO for disease gene expression data for Catecholaminergic Polymorphic Ventricular Tachycardia.

Pathways for Catecholaminergic Polymorphic Ventricular Tachycardia

Pathways related to Catecholaminergic Polymorphic Ventricular Tachycardia according to KEGG:

36
# Name Kegg Source Accession
1 Calcium signaling pathway hsa04020
2 Adrenergic signaling in cardiomyocytes hsa04261
3 Cardiac muscle contraction hsa04260

Pathways related to Catecholaminergic Polymorphic Ventricular Tachycardia according to GeneCards Suite gene sharing:

(show top 50) (show all 68)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.57 SCN5A SCN4B RYR2 RYR1 CALM3 CALM2
2
Show member pathways
13.43 SCN5A SCN4B PKP2 DSG2 CALM3 CALM2
3
Show member pathways
13.41 TRDN RYR2 RYR1 FKBP1B CALM3 CALM2
4
Show member pathways
13.07 RYR2 RYR1 CALM3 CALM2 CALM1 CACNA1C
5
Show member pathways
13.03 KCNJ2 KCNH2 CALM3 CALM2 CALM1 AKAP9
6
Show member pathways
13 RYR2 RYR1 KCNJ2 CALM3 CALM2 CALM1
7
Show member pathways
12.9 RYR2 CALM3 CALM2 CALM1 CACNA1C
8
Show member pathways
12.84 RYR2 RYR1 CALM3 CALM2 CALM1 CACNA1C
9
Show member pathways
12.63 RYR2 RYR1 CALM3 CALM2 CALM1 CACNA1C
10
Show member pathways
12.61 SCN5A SCN4B CALM3 CALM2 CALM1 CACNA1C
11
Show member pathways
12.58 RYR1 CALM3 CALM2 CALM1 CACNA1C
12
Show member pathways
12.52 SCN5A SCN4B RYR2 CALM3 CALM2 CALM1
13
Show member pathways
12.49 RYR2 RYR1 CASQ2 CALM3 CALM2 CALM1
14
Show member pathways
12.46 RYR2 KCNJ2 CALM3 CALM2 CALM1
15
Show member pathways
12.42 TRDN RYR2 RYR1 FKBP1B CALM3 CALM2
16
Show member pathways
12.41 RYR2 RYR1 KCNJ2 CALM3 CALM2 CALM1
17
Show member pathways
12.34 CALM3 CALM2 CALM1 CACNA1C
18 12.32 RYR2 CALM3 CALM2 CALM1 CACNA1C
19
Show member pathways
12.29 CALM3 CALM2 CALM1 CACNA1C
20 12.27 KCNJ2 KCNH2 CALM3 CALM2 CALM1 CACNA1C
21
Show member pathways
12.26 CALM3 CALM2 CALM1 AKAP9
22
Show member pathways
12.25 CALM3 CALM2 CALM1 CACNA1C
23
Show member pathways
12.23 TRDN SCN5A SCN4B RYR2 RYR1 MYBPC3
24 12.2 SCN5A SCN4B RYR2 KCNH2
25 12.19 TRDN RYR2 RYR1 CASQ2 CALM3 CALM2
26 12.18 RYR2 PKP2 DSG2 CACNA1C
27 12.16 CALM3 CALM2 CALM1 CACNA1C
28
Show member pathways
12.05 CALM3 CALM2 CALM1
29
Show member pathways
12.04 CALM3 CALM2 CALM1 CACNA1C
30 12.04 RYR2 RYR1 CALM3 CALM2 CALM1
31
Show member pathways
12.02 CALM3 CALM2 CALM1 CACNA1C
32
Show member pathways
11.97 CALM3 CALM2 CALM1
33 11.94 CALM3 CALM2 CALM1
34
Show member pathways
11.94 CALM3 CALM2 CALM1
35
Show member pathways
11.94 CALM3 CALM2 CALM1 CACNA1C
36 11.92 CALM3 CALM2 CALM1
37
Show member pathways
11.9 CALM3 CALM2 CALM1
38
Show member pathways
11.87 CALM3 CALM2 CALM1
39
Show member pathways
11.87 CALM3 CALM2 CALM1
40
Show member pathways
11.86 CALM3 CALM2 CALM1
41 11.83 TRDN RYR2 CASQ2 CACNA1C ASPH
42
Show member pathways
11.8 CALM3 CALM2 CALM1
43
Show member pathways
11.79 CALM3 CALM2 CALM1
44 11.78 CALM3 CALM2 CALM1
45
Show member pathways
11.77 CALM3 CALM2 CALM1
46 11.76 CALM3 CALM2 CALM1
47
Show member pathways
11.72 CALM3 CALM2 CALM1
48 11.68 CALM3 CALM2 CALM1
49
Show member pathways
11.68 SCN5A SCN4B CALM3 CALM2 CALM1 CACNA1C
50
Show member pathways
11.67 CALM3 CALM2 CALM1

GO Terms for Catecholaminergic Polymorphic Ventricular Tachycardia

Cellular components related to Catecholaminergic Polymorphic Ventricular Tachycardia according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.4 TRDN SCN5A SCN4B RYR2 RYR1 PKP2
2 voltage-gated potassium channel complex GO:0008076 9.88 KCNJ2 KCNH2 CALM3 CALM2 CALM1 AKAP9
3 Z disc GO:0030018 9.87 SCN5A RYR2 RYR1 FKBP1B CASQ2 CACNA1C
4 sarcolemma GO:0042383 9.85 SCN5A RYR2 RYR1 CACNA1C ANK2
5 sarcoplasmic reticulum GO:0016529 9.85 TRDN RYR2 RYR1 FKBP1B CASQ2 ASPH
6 sarcomere GO:0030017 9.83 RYR2 MYBPC3 CALM3 CALM2 CALM1
7 T-tubule GO:0030315 9.78 SCN5A KCNJ2 CACNA1C ANK2
8 spindle microtubule GO:0005876 9.73 CALM3 CALM2 CALM1
9 intercalated disc GO:0014704 9.73 SCN5A SCN4B PKP2 KCNJ2 DSG2 ANK2
10 myelin sheath GO:0043209 9.72 CALM3 CALM2 CALM1
11 smooth endoplasmic reticulum GO:0005790 9.71 RYR2 RYR1 KCNJ2
12 catalytic complex GO:1902494 9.69 CALM3 CALM2 CALM1
13 sarcoplasmic reticulum lumen GO:0033018 9.67 TRDN CASQ2 ASPH
14 sarcoplasmic reticulum membrane GO:0033017 9.63 TRDN RYR2 RYR1 FKBP1B CASQ2 ASPH
15 voltage-gated sodium channel complex GO:0001518 9.58 SCN5A SCN4B
16 A band GO:0031672 9.57 MYBPC3 ANK2
17 junctional sarcoplasmic reticulum membrane GO:0014701 9.35 TRDN RYR2 RYR1 CASQ2 ASPH
18 calcium channel complex GO:0034704 9.23 RYR2 RYR1 FKBP1B CASQ2 CALM3 CALM2

Biological processes related to Catecholaminergic Polymorphic Ventricular Tachycardia according to GeneCards Suite gene sharing:

(show top 50) (show all 76)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10.19 SCN5A SCN4B RYR2 RYR1 KCNJ2 KCNH2
2 ion transmembrane transport GO:0034220 10.15 TRDN SCN5A RYR2 RYR1 KCNH2 FKBP1B
3 regulation of ion transmembrane transport GO:0034765 10.03 SCN5A SCN4B KCNJ2 KCNH2 CACNA1C
4 G2/M transition of mitotic cell cycle GO:0000086 10 CALM3 CALM2 CALM1 AKAP9
5 calcium ion transmembrane transport GO:0070588 10 RYR2 RYR1 CACNA1C ASPH
6 regulation of cardiac conduction GO:1903779 9.99 TRDN RYR2 RYR1 FKBP1B CASQ2 ASPH
7 muscle contraction GO:0006936 9.98 TRDN RYR1 CALM1 ASPH
8 cellular calcium ion homeostasis GO:0006874 9.98 TRDN RYR2 RYR1 ANK2
9 cardiac conduction GO:0061337 9.98 SCN5A KCNJ2 KCNH2 CACNA1C AKAP9
10 calcium-mediated signaling GO:0019722 9.96 RYR2 CALM3 CALM2 CALM1
11 regulation of cardiac muscle contraction GO:0055117 9.93 RYR2 CALM3 CALM2 CALM1 ANK2
12 cellular response to calcium ion GO:0071277 9.92 SCN5A RYR1 ASPH
13 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.92 SCN5A SCN4B KCNH2 ANK2 AKAP9
14 response to calcium ion GO:0051592 9.91 CALM3 CALM2 CALM1
15 cardiac muscle contraction GO:0060048 9.91 SCN5A SCN4B RYR2 MYBPC3 KCNH2 CASQ2
16 positive regulation of protein serine/threonine kinase activity GO:0071902 9.9 CALM3 CALM2 CALM1
17 substantia nigra development GO:0021762 9.89 CALM3 CALM2 CALM1
18 regulation of cytokinesis GO:0032465 9.89 CALM3 CALM2 CALM1
19 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.89 RYR2 PKP2 FKBP1B CACNA1C
20 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.89 FKBP1B CALM3 CALM2 CALM1 ASPH
21 regulation of cytosolic calcium ion concentration GO:0051480 9.88 RYR2 RYR1 FKBP1B
22 release of sequestered calcium ion into cytosol GO:0051209 9.88 RYR2 RYR1 FKBP1B
23 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.88 SCN5A SCN4B KCNJ2 CACNA1C
24 ventricular cardiac muscle cell action potential GO:0086005 9.88 SCN5A RYR2 PKP2 KCNH2 ANK2
25 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.87 RYR2 PKP2 DSG2 CACNA1C
26 positive regulation of DNA binding GO:0043388 9.86 CALM3 CALM2 CALM1
27 positive regulation of peptidyl-threonine phosphorylation GO:0010800 9.86 CALM3 CALM2 CALM1
28 regulation of membrane repolarization GO:0060306 9.86 KCNJ2 KCNH2 CASQ2 AKAP9
29 positive regulation of protein dephosphorylation GO:0035307 9.85 CALM3 CALM2 CALM1
30 cardiac muscle cell action potential involved in contraction GO:0086002 9.85 SCN5A SCN4B PKP2 KCNJ2 CACNA1C
31 detection of calcium ion GO:0005513 9.85 RYR2 CASQ2 CALM3 CALM2 CALM1 ASPH
32 positive regulation of protein autophosphorylation GO:0031954 9.84 CALM3 CALM2 CALM1
33 negative regulation of peptidyl-threonine phosphorylation GO:0010801 9.83 CALM3 CALM2 CALM1
34 regulation of release of sequestered calcium ion into cytosol GO:0051279 9.82 TRDN CASQ2 ANK2
35 positive regulation of sodium ion transport GO:0010765 9.82 SCN5A SCN4B PKP2
36 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.81 CALM3 CALM2 CALM1
37 regulation of cardiac muscle cell contraction GO:0086004 9.81 SCN5A KCNJ2 ANK2
38 cellular response to caffeine GO:0071313 9.8 RYR2 RYR1 CASQ2
39 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 9.8 TRDN CALM3 CALM2 CALM1 ASPH
40 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.8 TRDN FKBP1B CASQ2 CALM3 CALM2 CALM1
41 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.8 TRDN FKBP1B CASQ2 CALM3 CALM2 CALM1
42 regulation of cell communication by electrical coupling involved in cardiac conduction GO:1901844 9.79 CALM3 CALM2 CALM1
43 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.79 TRDN RYR2 RYR1
44 regulation of cell communication by electrical coupling GO:0010649 9.78 TRDN CASQ2 ASPH
45 positive regulation of cyclic-nucleotide phosphodiesterase activity GO:0051343 9.77 CALM3 CALM2 CALM1
46 regulation of heart rate GO:0002027 9.76 SCN5A RYR2 FKBP1B CASQ2 CALM3 CALM2
47 membrane depolarization during action potential GO:0086010 9.75 SCN5A KCNH2
48 positive regulation of potassium ion transmembrane transport GO:1901381 9.75 KCNJ2 KCNH2
49 calcium ion transport into cytosol GO:0060402 9.75 RYR2 CACNA1C
50 establishment of protein localization to membrane GO:0090150 9.75 CALM3 CALM1

Molecular functions related to Catecholaminergic Polymorphic Ventricular Tachycardia according to GeneCards Suite gene sharing:

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 10 SCN5A RYR2 CALM3 CALM2 CALM1 ANK2
2 calcium ion binding GO:0005509 9.97 RYR2 RYR1 DSG2 CASQ2 CALM3 CALM2
3 protein domain specific binding GO:0019904 9.93 SCN5A CALM3 CALM2 CALM1
4 calmodulin binding GO:0005516 9.91 SCN5A RYR2 RYR1 CACNA1C
5 ion channel activity GO:0005216 9.91 SCN5A RYR2 RYR1 KCNH2 CACNA1C
6 voltage-gated ion channel activity GO:0005244 9.83 SCN5A SCN4B KCNJ2 KCNH2 CACNA1C
7 calcium channel activity GO:0005262 9.81 RYR2 RYR1 CACNA1C
8 calcium-dependent protein binding GO:0048306 9.8 CASQ2 CALM3 CALM1
9 disordered domain specific binding GO:0097718 9.73 CALM3 CALM2 CALM1
10 protein serine/threonine kinase activator activity GO:0043539 9.72 CALM3 CALM2 CALM1
11 enzyme regulator activity GO:0030234 9.71 CALM3 CALM2 CALM1
12 nitric-oxide synthase binding GO:0050998 9.67 SCN5A CALM3 CALM1
13 adenylate cyclase binding GO:0008179 9.65 CALM3 CALM2 CALM1
14 calcium channel inhibitor activity GO:0019855 9.63 FKBP1B CALM2 CALM1
15 calcium-release channel activity GO:0015278 9.62 RYR2 RYR1
16 nitric-oxide synthase regulator activity GO:0030235 9.61 CALM3 CALM1
17 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.6 KCNJ2 KCNH2
18 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.59 PKP2 DSG2
19 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.58 SCN5A SCN4B
20 calcium-induced calcium release activity GO:0048763 9.58 RYR2 RYR1
21 protein phosphatase activator activity GO:0072542 9.58 CALM3 CALM2 CALM1
22 type 3 metabotropic glutamate receptor binding GO:0031800 9.57 CALM3 CALM1
23 adenylate cyclase activator activity GO:0010856 9.5 CALM3 CALM2 CALM1
24 ryanodine-sensitive calcium-release channel activity GO:0005219 9.43 RYR2 RYR1 FKBP1B
25 ion channel binding GO:0044325 9.4 TRDN SCN5A SCN4B RYR2 PKP2 FKBP1B
26 N-terminal myristoylation domain binding GO:0031997 9.33 CALM3 CALM2 CALM1
27 titin binding GO:0031432 9.26 MYBPC3 CALM3 CALM2 CALM1

Sources for Catecholaminergic Polymorphic Ventricular Tachycardia

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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