MCID: CTC001
MIFTS: 60

Catecholaminergic Polymorphic Ventricular Tachycardia

Categories: 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 54 26 60 38 30 6 15 39
Cpvt 25 54 26 60
Catecholamine-Induced Polymorphic Ventricular Tachycardia 25 54 26
Bidirectional Tachycardia Induced by Catecholamine 54 60
Stress-Induced Polymorphic Ventricular Tachycardia 54 74
Double Tachycardia Induced by Catecholamines 54 60
Familial Polymorphic Ventricular Tachycardia 54 26
Malignant Paroxysmal Ventricular Tachycardia 54 60
Multifocal Ventricular Premature Beats 54 60
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 74
Ventricular Tachycardia, Catecholaminergic Polymorphic 56
Bidirectional Tachycardia Induced by Catecholamines 26
Polymorphic Catecholergic Ventricular Tachycardia 54
Multifocal Premature Ventricular Beats 74
Familial Ventricular Tachycardia 74
Syncopal Paroxysmal Tachycardia 54
Multifocal Pvcs 74
Fpvt 26

Characteristics:

Orphanet epidemiological data:

60
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Penetrance The mean penetrance of ryr2 pathogenic variants is 83% [author, unpublished data].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 38 H01019
ICD10 34 I47.2
ICD10 via Orphanet 35 I47.2
UMLS via Orphanet 75 C1631597
Orphanet 60 ORPHA3286

Summaries for Catecholaminergic Polymorphic Ventricular Tachycardia

NIH Rare Diseases : 54 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, 5, with or without muscle weakness and ventricular tachycardia, catecholaminergic polymorphic, 3, 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 Metoprolol and Nadolol have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and brain, 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.

Genetics Home Reference : 26 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 and irregular 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.

Wikipedia : 77 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 79)
# Related Disease Score Top Affiliating Genes
1 ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness 35.0 LOC105377982 TRDN
2 ventricular tachycardia, catecholaminergic polymorphic, 3 33.8 KCNJ2 TECRL
3 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 33.3 ANK2 CALM1 CASQ2 KCNH2 KCNJ2 RYR2
4 ventricular fibrillation, paroxysmal familial, 1 31.1 KCNH2 RYR2 SCN5A
5 syncope 31.0 KCNH2 KCNJ2 SCN5A
6 brugada syndrome 30.8 ANK2 CALM2 KCNH2 MYBPC3 SCN5A
7 andersen cardiodysrhythmic periodic paralysis 30.5 ANK2 KCNH2 KCNJ2 RYR2 SCN5A
8 atrial fibrillation 30.4 ANK2 KCNH2 KCNJ2 MYBPC3 RYR2 SCN5A
9 long qt syndrome 30.2 ANK2 CALM1 CALM2 CALM3 KCNH2 KCNJ2
10 cardiac conduction defect 30.1 KCNH2 LMNA MYBPC3 RYR1 RYR2 SCN5A
11 left ventricular noncompaction 30.0 FKBP1B LMNA MYBPC3 RYR2 SCN5A
12 cardiac arrhythmia 29.9 ANK2 KCNH2 KCNJ2 RYR2 SCN5A
13 arrhythmogenic right ventricular cardiomyopathy 29.7 ANK2 KCNH2 LMNA RYR1 RYR2 SCN5A
14 cardiac arrest 29.6 ANK2 CALM1 CALM2 CALM3 CASQ2 KCNH2
15 catecholaminergic polymorphic ventricular tachycardia 5 12.8
16 ventricular tachycardia, catecholaminergic polymorphic, 2 12.4
17 ventricular tachycardia, catecholaminergic polymorphic, 4 12.2
18 ventricular tachycardia, familial 11.5
19 cardiac arrhythmia, ankyrin-b-related 11.5
20 sinoatrial node disease 10.4
21 sick sinus syndrome 10.4
22 long qt syndrome 14 10.3 ANK2 CALM1
23 epilepsy 10.3
24 bidirectional tachycardia 10.3
25 long qt syndrome 15 10.3 CALM1 CALM2 CALM3
26 otomycosis 10.3 CALM1 CALM2 CALM3
27 external ear disease 10.3 CALM1 CALM2 CALM3
28 emery-dreifuss muscular dystrophy 5, autosomal dominant 10.3 CALM1 CALM2 CALM3
29 sporotrichosis 10.3 CALM1 CALM2 CALM3
30 otitis externa 10.3 CALM1 CALM2 CALM3
31 spontaneous ocular nystagmus 10.3 CALM1 CALM2 CALM3
32 deafness, autosomal recessive 44 10.3 CALM1 CALM2 CALM3
33 acute dacryocystitis 10.3 CALM1 CALM2 CALM3
34 dystonia 24 10.3 CALM1 CALM2 CALM3
35 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.3 LMNA RYR2
36 gestational choriocarcinoma 10.3 CALM1 CALM2 CALM3
37 triosephosphate isomerase deficiency 10.3 CALM1 CALM2 CALM3
38 leber congenital amaurosis 2 10.3 CALM1 CALM2 CALM3
39 sacral defect with anterior meningocele 10.3 RYR1 VANGL1
40 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.3 LMNA RYR2
41 tinea unguium 10.3 CALM1 CALM2 CALM3
42 primary systemic mycosis 10.3 CALM1 CALM2 CALM3
43 clear cell acanthoma 10.3 CALM1 CALM2 CALM3
44 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.2 LMNA RYR2
45 cardiomyopathy, dilated, 1p 10.2 CALM1 CALM2 CALM3
46 phaeohyphomycosis 10.2 CALM1 CALM2 CALM3
47 deafness, autosomal dominant 2a 10.2 CALM1 CALM2 CALM3
48 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 10.2 CALM1 CALM2 CALM3
49 ceroid lipofuscinosis, neuronal, 11 10.2 CALM1 CALM2 CALM3
50 primary cutaneous amyloidosis 10.2 CALM1 CALM2 CALM3

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:

60 33
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ventricular tachycardia 60 33 hallmark (90%) Very frequent (99-80%) HP:0004756
2 vertigo 60 33 frequent (33%) Frequent (79-30%) HP:0002321
3 sudden cardiac death 60 33 occasional (7.5%) Occasional (29-5%) HP:0001645
4 syncope 60 33 occasional (7.5%) Occasional (29-5%) HP:0001279

UMLS symptoms related to Catecholaminergic Polymorphic Ventricular Tachycardia:


seizures, syncope

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.17 ATP2A2 CALM1 CALM2 CALM3 CALR LMNA

MGI Mouse Phenotypes related to Catecholaminergic Polymorphic Ventricular Tachycardia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.07 ASPH ATP2A2 CALR CASQ2 FKBP1B KCNH2
2 growth/size/body region MP:0005378 9.93 ASPH ATP2A2 CALR CASQ2 KCNH2 KCNJ2
3 mortality/aging MP:0010768 9.73 ASPH ATP2A2 CALR CASQ2 FKBP1B KCNH2
4 muscle MP:0005369 9.44 ASPH ATP2A2 CALR CASQ2 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 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metoprolol Approved, Investigational Not Applicable 37350-58-6, 51384-51-1 4171
2
Nadolol Approved Not Applicable 42200-33-9 39147
3
Propranolol Approved, Investigational Not Applicable 525-66-6 4946
4
Atenolol Approved Not Applicable 29122-68-7 2249
5
Atropine Approved, Vet_approved Not Applicable 5908-99-6, 51-55-8 174174
6 Adrenergic Antagonists Not Applicable
7 Diuretics, Potassium Sparing Not Applicable
8 Anti-Arrhythmia Agents Not Applicable
9 Sodium Channel Blockers Not Applicable
10 Adrenergic Agents Not Applicable
11 Adrenergic beta-Antagonists Not Applicable
12 Neurotransmitter Agents Not Applicable
13 Autonomic Agents Not Applicable
14 Peripheral Nervous System Agents Not Applicable
15 Cholinergic Antagonists Not Applicable
16 Anesthetics Not Applicable
17 Respiratory System Agents Not Applicable
18 Muscarinic Antagonists Not Applicable
19 Adjuvants, Anesthesia Not Applicable
20 Anti-Asthmatic Agents Not Applicable
21 Parasympatholytics Not Applicable
22 Mydriatics Not Applicable
23 Bronchodilator Agents Not Applicable
24 Cholinergic Agents Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Renal Nerve Stimulation and Renal Denervation in Patients With Sympathetic Ventricular Arrhythmias Recruiting NCT02856373 Phase 2
2 Flecainide for Catecholaminergic Polymorphic Ventricular Tachycardia Completed NCT01117454 Not Applicable Flecainide Acetate;Placebo;Beta blocker
3 Atropine in Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Completed NCT02927223 Not Applicable Atropine
4 China Inherited Ventricular Arrhythmias Registry Recruiting NCT03880708
5 Genetic Markers of Cardiovascular Disease in Epilepsy Recruiting NCT02824822
6 Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias 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 30

Anatomical Context for Catecholaminergic Polymorphic Ventricular Tachycardia

MalaCards organs/tissues related to Catecholaminergic Polymorphic Ventricular Tachycardia:

42
Heart, Testes, Brain

Publications for Catecholaminergic Polymorphic Ventricular Tachycardia

Articles related to Catecholaminergic Polymorphic Ventricular Tachycardia:

(show top 50) (show all 353)
# Title Authors Year
1
Sudden Cardiac Death in Long QT syndrome (LQTS), Brugada Syndrome, and Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT). ( 31078562 )
2019
2
Catecholaminergic Polymorphic Ventricular Tachycardia: An unusual case of fright-induced prehospital cardiac arrest in a healthy 6 year old child. ( 31038375 )
2019
3
Catecholaminergic Polymorphic Ventricular Tachycardia: The Cardiac Arrest Where Epinephrine Is Contraindicated. ( 30640888 )
2019
4
Exercise Testing Oversights Underlie Missed and Delayed Diagnosis of Catecholaminergic Polymorphic Ventricular Tachycardia in Young Sudden Cardiac Arrest Survivors. ( 30763784 )
2019
5
An Update on the Diagnosis and Management of Catecholaminergic Polymorphic Ventricular Tachycardia. ( 30446242 )
2019
6
Identification of a novel exon3 deletion of RYR2 in a family with catecholaminergic polymorphic ventricular tachycardia. ( 30615235 )
2019
7
Plakophilin-2 Truncation Variants in Patients Clinically Diagnosed With Catecholaminergic Polymorphic Ventricular Tachycardia and Decedents With Exercise-Associated Autopsy Negative Sudden Unexplained Death in the Young. ( 30678776 )
2019
8
Radiofrequency catheter ablation for drug-refractory atrial tachyarrhythmias in a patient with catecholaminergic polymorphic ventricular tachycardia: A case report. ( 30693058 )
2019
9
A Homozygous CASQ2 Mutation in a Japanese Patient with Catecholaminergic Polymorphic Ventricular Tachycardia. ( 30729048 )
2019
10
A compound heterozygosity of Tecrl gene confirmed in a catecholaminergic polymorphic ventricular tachycardia family. ( 30790670 )
2019
11
A 35-year effective treatment of catecholaminergic polymorphic ventricular tachycardia with propafenone. ( 30820400 )
2019
12
Pregnancy in Catecholaminergic Polymorphic Ventricular Tachycardia. ( 30898243 )
2019
13
A large deletion in RYR2 exon 3 is associated with nadolol and flecainide refractory catecholaminergic polymorphic ventricular tachycardia. ( 30912151 )
2019
14
Characterization of the first induced pluripotent stem cell line generated from a patient with autosomal dominant catecholaminergic polymorphic ventricular tachycardia due to a heterozygous mutation in cardiac calsequestrin-2. ( 31039485 )
2019
15
The challenge of implantable cardioverter-defibrillator programming and shock interpretation in treatment-refractory catecholaminergic polymorphic ventricular tachycardia. ( 31090560 )
2019
16
Bilateral cardiac sympathetic denervation in catecholaminergic polymorphic ventricular tachycardia. ( 31099757 )
2019
17
A rare cause of sudden cardiac arrest: Catecholaminergic polymorphic ventricular tachycardia. ( 30116135 )
2018
18
Successful Treatment of Refractory Cardiac Arrest With β-Blockade and Extracorporeal Life Support in a Pediatric Patient With Catecholaminergic Polymorphic Ventricular Tachycardia: A Case Report. ( 29634558 )
2018
19
The clinical and genetic spectrum of catecholaminergic polymorphic ventricular tachycardia: findings from an international multicentre registry. ( 28158428 )
2018
20
A Focus on Pharmacological Management of Catecholaminergic Polymorphic Ventricular Tachycardia. ( 28685702 )
2018
21
Flecainide Reduces Ventricular Arrhythmias in Patients With Genotype RyR2-positive Catecholaminergic Polymorphic Ventricular Tachycardia. ( 28789916 )
2018
22
Psychosocial Implications of Living with Catecholaminergic Polymorphic Ventricular Tachycardia in Adulthood. ( 28940060 )
2018
23
The genetics underlying idiopathic ventricular fibrillation: A special role for catecholaminergic polymorphic ventricular tachycardia? ( 29032884 )
2018
24
Catecholaminergic polymorphic ventricular tachycardia, an update. ( 29048771 )
2018
25
Different responses to exercise between Andersen-Tawil syndrome and catecholaminergic polymorphic ventricular tachycardia. ( 29309601 )
2018
26
Tetracaine derivatives for catecholaminergic polymorphic ventricular tachycardia: New drugs for correction of diastolic Ca2+ leak? ( 29410362 )
2018
27
Mutation-linked, excessively tight interaction between the calmodulin binding domain and the C-terminal domain of the cardiac ryanodine receptor as a novel cause of catecholaminergic polymorphic ventricular tachycardia. ( 29427818 )
2018
28
Bradycardia Is a Specific Phenotype of Catecholaminergic Polymorphic Ventricular Tachycardia Induced by RYR2 Mutations. ( 29434162 )
2018
29
Yield of the RYR2 Genetic Test in Suspected Catecholaminergic Polymorphic Ventricular Tachycardia and Implications for Test Interpretation. ( 29453246 )
2018
30
Pathogenic mechanism of a catecholaminergic polymorphic ventricular tachycardia causing-mutation in cardiac calcium release channel RyR2. ( 29477366 )
2018
31
A delayed diagnosis of catecholaminergic polymorphic ventricular tachycardia with a mutant of RYR2 at c.7580T>G for 6 years in a 9-year-old child. ( 29668588 )
2018
32
Gene Transfer of Engineered Calmodulin Alleviates Ventricular Arrhythmias in a Calsequestrin-Associated Mouse Model of Catecholaminergic Polymorphic Ventricular Tachycardia. ( 29720499 )
2018
33
Letter by Ruiz-Guerrero et al Regarding Article, "Yield of the RYR2 Genetic Test in Suspected Catecholaminergic Polymorphic Ventricular Tachycardia and Implications for Test Interpretation". ( 29752400 )
2018
34
Response by Kapplinger et al to Letter Regarding Article, "Yield of the RYR2 Genetic Test in Suspected Catecholaminergic Polymorphic Ventricular Tachycardia and Implications for Test Interpretation". ( 29752402 )
2018
35
Antiarrhythmic Effects of Carvedilol and Flecainide in Cardiomyocytes Derived from Catecholaminergic Polymorphic Ventricular Tachycardia Patients. ( 29760739 )
2018
36
Differential Diagnosis Between Catecholaminergic Polymorphic Ventricular Tachycardia and Long QT Syndrome Type 1 - Modified Schwartz Score. ( 29925740 )
2018
37
Three cases of catecholaminergic polymorphic ventricular tachycardia with prolonged QT intervals including two cases of compound mutations. ( 29951146 )
2018
38
Efficacy of ivabradine to control ventricular arrhythmias in catecholaminergic polymorphic ventricular tachycardia. ( 29989676 )
2018
39
Implantable cardioverter-defibrillator use in catecholaminergic polymorphic ventricular tachycardia: A systematic review. ( 30063211 )
2018
40
They Are Not Monozygotic Twins - Long QT Syndrome Type 1 (LQT1) and Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT). ( 30089744 )
2018
41
A Novel Calsequestrin 2 Deletion Causing Catecholaminergic Polymorphic Ventricular Tachycardia and Sudden Cardiac Death. ( 30139651 )
2018
42
Catecholaminergic polymorphic ventricular tachycardia managed as orthostatic dysregulation and epilepsy in 11- and 15-year-old sisters. ( 30157307 )
2018
43
Linking the heart and the brain: Neurodevelopmental disorders in patients with catecholaminergic polymorphic ventricular tachycardia. ( 30170228 )
2018
44
Description of a novel RyR2 mutation in a juvenile patient with symptomatic catecholaminergic polymorphic ventricular tachycardia in sleep and during exercise: a case report. ( 30296944 )
2018
45
In Vivo Ryr2 Editing Corrects Catecholaminergic Polymorphic Ventricular Tachycardia. ( 30355031 )
2018
46
Arrhythmia initiation in catecholaminergic polymorphic ventricular tachycardia type 1 depends on both heart rate and sympathetic stimulation. ( 30399185 )
2018
47
Catecholaminergic polymorphic ventricular tachycardia patients with multiple genetic variants in the PACES CPVT Registry. ( 30403697 )
2018
48
Investigation of Catecholaminergic Polymorphic Ventricular Tachycardia Children in China: Clinical Characteristics, Delay to Diagnosis, and Misdiagnosis. ( 30511691 )
2018
49
A novel variant of the CASQ2 gene in a Chinese family with catecholaminergic polymorphic ventricular tachycardia. ( 30600839 )
2018
50
Catecholaminergic Polymorphic Ventricular Tachycardia as the Etiology of Emergency Medical Services-Reported Traumatic Arrest. ( 27668923 )
2018

Variations for Catecholaminergic Polymorphic Ventricular Tachycardia

ClinVar genetic disease variations for Catecholaminergic Polymorphic Ventricular Tachycardia:

6 (show top 50) (show all 2259)
# Gene Variation Type Significance SNP ID Assembly Location
1 RYR2 NM_001035.2(RYR2): c.6737C> T (p.Ser2246Leu) single nucleotide variant Pathogenic rs121918597 GRCh37 Chromosome 1, 237798237: 237798237
2 RYR2 NM_001035.2(RYR2): c.6737C> T (p.Ser2246Leu) single nucleotide variant Pathogenic rs121918597 GRCh38 Chromosome 1, 237634937: 237634937
3 RYR2 NM_001035.2(RYR2): c.13489C> T (p.Arg4497Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918600 GRCh37 Chromosome 1, 237954741: 237954741
4 RYR2 NM_001035.2(RYR2): c.13489C> T (p.Arg4497Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918600 GRCh38 Chromosome 1, 237791441: 237791441
5 RYR2 NM_001035.2(RYR2): c.1298T> C (p.Leu433Pro) single nucleotide variant Pathogenic rs121918602 GRCh37 Chromosome 1, 237617696: 237617696
6 RYR2 NM_001035.2(RYR2): c.1298T> C (p.Leu433Pro) single nucleotide variant Pathogenic rs121918602 GRCh38 Chromosome 1, 237454396: 237454396
7 CASQ2 NM_001232.3(CASQ2): c.731A> G (p.His244Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs28730716 GRCh37 Chromosome 1, 116269619: 116269619
8 CASQ2 NM_001232.3(CASQ2): c.731A> G (p.His244Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs28730716 GRCh38 Chromosome 1, 115726998: 115726998
9 RYR2 NM_001035.2(RYR2): c.10254C> T (p.Asn3418=) single nucleotide variant Benign/Likely benign rs138073811 GRCh37 Chromosome 1, 237875068: 237875068
10 RYR2 NM_001035.2(RYR2): c.10254C> T (p.Asn3418=) single nucleotide variant Benign/Likely benign rs138073811 GRCh38 Chromosome 1, 237711768: 237711768
11 RYR2 NM_001035.2(RYR2): c.1134C> T (p.Asp378=) single nucleotide variant Benign/Likely benign rs193922621 GRCh37 Chromosome 1, 237604747: 237604747
12 RYR2 NM_001035.2(RYR2): c.1134C> T (p.Asp378=) single nucleotide variant Benign/Likely benign rs193922621 GRCh38 Chromosome 1, 237441447: 237441447
13 RYR2 NM_001035.2(RYR2): c.13260+14A> G single nucleotide variant Benign/Likely benign rs141528541 GRCh37 Chromosome 1, 237948286: 237948286
14 RYR2 NM_001035.2(RYR2): c.13260+14A> G single nucleotide variant Benign/Likely benign rs141528541 GRCh38 Chromosome 1, 237784986: 237784986
15 RYR2 NM_001035.2(RYR2): c.14029C> T (p.Leu4677=) single nucleotide variant Benign rs112864477 GRCh37 Chromosome 1, 237961409: 237961409
16 RYR2 NM_001035.2(RYR2): c.14029C> T (p.Leu4677=) single nucleotide variant Benign rs112864477 GRCh38 Chromosome 1, 237798109: 237798109
17 RYR2 NM_001035.2(RYR2): c.14809-15C> G single nucleotide variant Benign/Likely benign rs790897 GRCh37 Chromosome 1, 237995837: 237995837
18 RYR2 NM_001035.2(RYR2): c.14809-15C> G single nucleotide variant Benign/Likely benign rs790897 GRCh38 Chromosome 1, 237832537: 237832537
19 RYR2 NM_001035.2(RYR2): c.1611G> A (p.Leu537=) single nucleotide variant Benign/Likely benign rs78281932 GRCh37 Chromosome 1, 237620034: 237620034
20 RYR2 NM_001035.2(RYR2): c.1611G> A (p.Leu537=) single nucleotide variant Benign/Likely benign rs78281932 GRCh38 Chromosome 1, 237456734: 237456734
21 RYR2 NM_001035.2(RYR2): c.1863C> T (p.His621=) single nucleotide variant Benign/Likely benign rs17686573 GRCh37 Chromosome 1, 237656289: 237656289
22 RYR2 NM_001035.2(RYR2): c.1863C> T (p.His621=) single nucleotide variant Benign/Likely benign rs17686573 GRCh38 Chromosome 1, 237492989: 237492989
23 RYR2 NM_001035.2(RYR2): c.2204-7C> G single nucleotide variant Benign/Likely benign rs147479514 GRCh37 Chromosome 1, 237664004: 237664004
24 RYR2 NM_001035.2(RYR2): c.2204-7C> G single nucleotide variant Benign/Likely benign rs147479514 GRCh38 Chromosome 1, 237500704: 237500704
25 RYR2 NM_001035.2(RYR2): c.2267G> A (p.Ser756Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs193922623 GRCh37 Chromosome 1, 237664074: 237664074
26 RYR2 NM_001035.2(RYR2): c.2267G> A (p.Ser756Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs193922623 GRCh38 Chromosome 1, 237500774: 237500774
27 RYR2 NM_001035.2(RYR2): c.3251G> A (p.Arg1084Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs193922624 GRCh37 Chromosome 1, 237729903: 237729903
28 RYR2 NM_001035.2(RYR2): c.3251G> A (p.Arg1084Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs193922624 GRCh38 Chromosome 1, 237566603: 237566603
29 RYR2 NM_001035.2(RYR2): c.5586C> T (p.Asp1862=) single nucleotide variant Conflicting interpretations of pathogenicity rs193922628 GRCh37 Chromosome 1, 237778014: 237778014
30 RYR2 NM_001035.2(RYR2): c.5586C> T (p.Asp1862=) single nucleotide variant Conflicting interpretations of pathogenicity rs193922628 GRCh38 Chromosome 1, 237614714: 237614714
31 RYR2 NM_001035.2(RYR2): c.5654G> A (p.Gly1885Glu) single nucleotide variant Benign/Likely benign rs41315858 GRCh37 Chromosome 1, 237778082: 237778082
32 RYR2 NM_001035.2(RYR2): c.5654G> A (p.Gly1885Glu) single nucleotide variant Benign/Likely benign rs41315858 GRCh38 Chromosome 1, 237614782: 237614782
33 RYR2 NM_001035.2(RYR2): c.5656G> A (p.Gly1886Ser) single nucleotide variant Benign/Likely benign rs3766871 GRCh37 Chromosome 1, 237778084: 237778084
34 RYR2 NM_001035.2(RYR2): c.5656G> A (p.Gly1886Ser) single nucleotide variant Benign/Likely benign rs3766871 GRCh38 Chromosome 1, 237614784: 237614784
35 RYR2 NM_001035.2(RYR2): c.7365C> T (p.Asp2455=) single nucleotide variant Benign/Likely benign rs72549416 GRCh37 Chromosome 1, 237811766: 237811766
36 RYR2 NM_001035.2(RYR2): c.7365C> T (p.Asp2455=) single nucleotide variant Benign/Likely benign rs72549416 GRCh38 Chromosome 1, 237648466: 237648466
37 RYR2 NM_001035.2(RYR2): c.7488C> T (p.Leu2496=) single nucleotide variant Benign/Likely benign rs143906555 GRCh37 Chromosome 1, 237811889: 237811889
38 RYR2 NM_001035.2(RYR2): c.7488C> T (p.Leu2496=) single nucleotide variant Benign/Likely benign rs143906555 GRCh38 Chromosome 1, 237648589: 237648589
39 RYR2 NM_001035.2(RYR2): c.8873A> G (p.Gln2958Arg) single nucleotide variant Benign/Likely benign rs34967813 GRCh37 Chromosome 1, 237841390: 237841390
40 RYR2 NM_001035.2(RYR2): c.8873A> G (p.Gln2958Arg) single nucleotide variant Benign/Likely benign rs34967813 GRCh38 Chromosome 1, 237678090: 237678090
41 CALM1 NM_006888.5(CALM1): c.293A> G (p.Asn98Ser) single nucleotide variant Pathogenic/Likely pathogenic rs267607277 GRCh37 Chromosome 14, 90870730: 90870730
42 CALM1 NM_006888.5(CALM1): c.293A> G (p.Asn98Ser) single nucleotide variant Pathogenic/Likely pathogenic rs267607277 GRCh38 Chromosome 14, 90404386: 90404386
43 CASQ2 NM_001232.3(CASQ2): c.97C> T (p.Arg33Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397507556 GRCh37 Chromosome 1, 116311066: 116311066
44 CASQ2 NM_001232.3(CASQ2): c.97C> T (p.Arg33Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397507556 GRCh38 Chromosome 1, 115768445: 115768445
45 RYR2 NM_001035.2(RYR2): c.10324-4A> G single nucleotide variant Benign/Likely benign rs72751287 GRCh37 Chromosome 1, 237880494: 237880494
46 RYR2 NM_001035.2(RYR2): c.10324-4A> G single nucleotide variant Benign/Likely benign rs72751287 GRCh38 Chromosome 1, 237717194: 237717194
47 RYR2 NM_001035.2(RYR2): c.10503C> T (p.Thr3501=) single nucleotide variant Benign/Likely benign rs2797441 GRCh37 Chromosome 1, 237881770: 237881770
48 RYR2 NM_001035.2(RYR2): c.10503C> T (p.Thr3501=) single nucleotide variant Benign/Likely benign rs2797441 GRCh38 Chromosome 1, 237718470: 237718470
49 RYR2 NM_001035.2(RYR2): c.10641G> A (p.Thr3547=) single nucleotide variant Conflicting interpretations of pathogenicity rs144256966 GRCh37 Chromosome 1, 237886514: 237886514
50 RYR2 NM_001035.2(RYR2): c.10641G> A (p.Thr3547=) single nucleotide variant Conflicting interpretations of pathogenicity rs144256966 GRCh38 Chromosome 1, 237723214: 237723214

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:

38
# 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 52)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.29 ASPH ATP2A2 CALM1 CALM2 CALM3 FKBP1B
2
Show member pathways
13.06 ATP2A2 CALM1 CALM2 CALM3 RYR1 RYR2
3
Show member pathways
13.01 CALM1 CALM2 CALM3 KCNJ2 RYR1 RYR2
4
Show member pathways
12.92 ATP2A2 CALM1 CALM2 CALM3 RYR2 SCN5A
5
Show member pathways
12.6 ATP2A2 CALM1 CALM2 CALM3 KCNJ2 RYR1
6
Show member pathways
12.51 CALM1 CALM2 CALM3 RYR1
7
Show member pathways
12.5 ASPH ATP2A2 CALM1 CALM2 CALM3 FKBP1B
8
Show member pathways
12.39 CALM1 CALM2 CALM3 LMNA RYR1 RYR2
9
Show member pathways
12.37 ATP2A2 CALM1 CALM2 CALM3
10
Show member pathways
12.35 ATP2A2 CALM1 CALM2 CALM3 CALR CASQ2
11
Show member pathways
12.3 ASPH ATP2A2 CALM1 CALM2 CALM3 FKBP1B
12 12.26 ATP2A2 CALM1 CALM2 CALM3 RYR2
13
Show member pathways
12.23 ATP2A2 CALM1 CALM2 CALM3
14
Show member pathways
12.2 ATP2A2 LMNA MYBPC3 RYR2
15 12.2 ATP2A2 CALM1 CALM2 CALM3 KCNH2 KCNJ2
16
Show member pathways
12.16 CALM1 CALM2 CALM3 KCNJ2
17
Show member pathways
12.08 ATP2A2 CALM1 CALM2 CALM3 RYR1 RYR2
18 12.03 ATP2A2 CALM1 CALR RYR1
19 11.97 CALM1 CALM2 CALM3 RYR1 RYR2
20
Show member pathways
11.94 CALM1 CALM2 CALM3
21
Show member pathways
11.91 CALM1 CALM2 CALM3
22 11.89 CALM1 CALM2 CALM3
23 11.89 CALM1 CALM2 CALM3
24
Show member pathways
11.86 CALM1 CALM2 CALM3
25
Show member pathways
11.84 CALM1 CALM2 CALM3
26
Show member pathways
11.83 CALM1 CALM2 CALM3
27
Show member pathways
11.76 CALM1 CALM2 CALM3
28
Show member pathways
11.74 CALM1 CALM2 CALM3
29 11.74 CALM1 CALM2 CALM3
30 11.72 CALM1 CALM2 CALM3
31
Show member pathways
11.7 CALM1 CALM2 CALM3 SCN5A
32
Show member pathways
11.67 CALM1 CALM2 CALM3
33 11.63 CALM1 CALM2 CALM3
34 11.63 CALM1 CALM2 CALM3 KCNJ2
35
Show member pathways
11.62 CALM1 CALM2 CALM3
36 11.53 CALM1 CALM2 CALM3
37 11.37 CALM1 CALM2 CALM3
38 11.37 CALM1 CALM2 CALM3
39 11.35 CALM1 CALM2 CALM3
40 11.32 ATP2A2 CALM1 CALM2
41 11.31 CALM1 CALM2 CALM3
42 11.27 CALM1 CALM2 CALM3
43 11.24 CALM1 CALM2 CALM3
44 11.23 CALM1 CALM2 CALM3
45 11.22 CALM1 CALM2 CALM3
46 11.09 CALM1 CALM2 CALM3
47 11.02 ANK2 ATP2A2 CASQ2 FKBP1B KCNH2 KCNJ2
48 11.01 CALM1 CALM2 CALM3
49 11 CALM1 CALM2 CALM3
50 10.81 RYR1 RYR2

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 sarcolemma GO:0042383 9.84 ANK2 RYR1 RYR2 SCN5A
2 voltage-gated potassium channel complex GO:0008076 9.83 CALM2 CALM3 KCNH2 KCNJ2
3 Z disc GO:0030018 9.8 ANK2 CASQ2 FKBP1B MYBPC3 RYR1 RYR2
4 T-tubule GO:0030315 9.78 ANK2 KCNJ2 RYR1 SCN5A
5 sarcomere GO:0030017 9.77 CALM1 CALM2 CALM3 MYBPC3 RYR2
6 intercalated disc GO:0014704 9.73 ANK2 KCNJ2 SCN5A
7 spindle microtubule GO:0005876 9.72 CALM1 CALM2 CALM3
8 smooth endoplasmic reticulum GO:0005790 9.71 CALR KCNJ2 RYR1 RYR2
9 sarcoplasmic reticulum membrane GO:0033017 9.7 ASPH ATP2A2 CASQ2 FKBP1B RYR1 RYR2
10 catalytic complex GO:1902494 9.67 CALM1 CALM2 CALM3
11 sarcoplasmic reticulum lumen GO:0033018 9.63 CALR CASQ2 TRDN
12 junctional sarcoplasmic reticulum membrane GO:0014701 9.62 CASQ2 RYR1 RYR2 TRDN
13 junctional membrane complex GO:0030314 9.61 CASQ2 RYR1 TRDN
14 A band GO:0031672 9.57 ANK2 MYBPC3
15 sarcoplasmic reticulum GO:0016529 9.56 ASPH ATP2A2 CALR CASQ2 FKBP1B RYR1
16 calcium channel complex GO:0034704 9.17 CALM1 CALM2 CALM3 CASQ2 FKBP1B RYR1
17 plasma membrane GO:0005886 10.35 ANK2 ASPH CALM1 CALM2 CALM3 KCNH2
18 protein-containing complex GO:0032991 10.05 ATP2A2 CALM1 CALM2 CALM3 CALR RYR1

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

(show top 50) (show all 66)
# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.97 ASPH CALM1 MYBPC3 RYR1 TRDN
2 cellular calcium ion homeostasis GO:0006874 9.97 ANK2 ATP2A2 CALR RYR1 RYR2 TRDN
3 ion transmembrane transport GO:0034220 9.97 ASPH ATP2A2 CASQ2 FKBP1B RYR1 RYR2
4 calcium-mediated signaling GO:0019722 9.93 CALM1 CALM2 CALM3 RYR2
5 cardiac muscle contraction GO:0060048 9.91 CASQ2 KCNH2 MYBPC3 RYR2 SCN5A
6 regulation of protein stability GO:0031647 9.89 ANK2 ASPH LMNA
7 response to calcium ion GO:0051592 9.88 CALM1 CALM2 CALM3
8 positive regulation of protein serine/threonine kinase activity GO:0071902 9.87 CALM1 CALM2 CALM3
9 regulation of heart rate by cardiac conduction GO:0086091 9.87 ANK2 KCNH2 KCNJ2 SCN5A
10 regulation of cytosolic calcium ion concentration GO:0051480 9.86 FKBP1B RYR1 RYR2
11 substantia nigra development GO:0021762 9.86 CALM1 CALM2 CALM3
12 release of sequestered calcium ion into cytosol GO:0051209 9.85 FKBP1B RYR1 RYR2
13 regulation of cytokinesis GO:0032465 9.85 CALM1 CALM2 CALM3
14 positive regulation of peptidyl-threonine phosphorylation GO:0010800 9.84 CALM1 CALM2 CALM3
15 ventricular cardiac muscle cell action potential GO:0086005 9.83 ANK2 KCNH2 RYR2 SCN5A
16 regulation of cardiac muscle contraction GO:0055117 9.83 ANK2 CALM1 CALM2 CALM3 RYR2
17 positive regulation of protein dephosphorylation GO:0035307 9.82 CALM1 CALM2 CALM3
18 positive regulation of protein autophosphorylation GO:0031954 9.82 CALM1 CALM2 CALM3
19 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.81 ANK2 KCNH2 SCN5A
20 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.8 CALM1 CALM3 FKBP1B
21 negative regulation of peptidyl-threonine phosphorylation GO:0010801 9.8 CALM1 CALM2 CALM3
22 detection of calcium ion GO:0005513 9.8 CALM1 CALM2 CALM3 CASQ2 RYR2
23 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.8 CALM1 CALM2 CALM3 CASQ2 FKBP1B TRDN
24 regulation of cardiac conduction GO:1903779 9.8 ASPH ATP2A2 CASQ2 FKBP1B RYR1 RYR2
25 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.79 CALM1 CALM2 CALM3
26 regulation of cardiac muscle cell contraction GO:0086004 9.79 ANK2 KCNJ2 SCN5A
27 regulation of membrane repolarization GO:0060306 9.78 CASQ2 KCNH2 KCNJ2
28 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 9.78 CALM1 CALM2 CALM3 TRDN
29 cellular response to caffeine GO:0071313 9.77 CASQ2 RYR1 RYR2
30 regulation of cardiac muscle contraction by calcium ion signaling GO:0010882 9.77 ANK2 ATP2A2 RYR2
31 regulation of cell communication by electrical coupling involved in cardiac conduction GO:1901844 9.76 CALM1 CALM2 CALM3
32 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.76 FKBP1B RYR1 RYR2 TRDN
33 cardiac muscle cell action potential involved in contraction GO:0086002 9.74 KCNJ2 SCN5A
34 membrane depolarization during action potential GO:0086010 9.74 KCNH2 SCN5A
35 positive regulation of potassium ion transmembrane transport GO:1901381 9.73 KCNH2 KCNJ2
36 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.73 FKBP1B RYR2
37 regulation of release of sequestered calcium ion into cytosol GO:0051279 9.73 ANK2 TRDN
38 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.73 KCNJ2 SCN5A
39 regulation of synaptic vesicle endocytosis GO:1900242 9.73 CALM1 CALM3
40 relaxation of cardiac muscle GO:0055119 9.73 ATP2A2 KCNJ2
41 positive regulation of cyclic-nucleotide phosphodiesterase activity GO:0051343 9.73 CALM1 CALM2 CALM3
42 establishment of protein localization to membrane GO:0090150 9.72 CALM1 CALM3
43 response to redox state GO:0051775 9.72 FKBP1B RYR2
44 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.72 KCNH2 KCNJ2
45 atrial cardiac muscle cell action potential GO:0086014 9.72 ANK2 SCN5A
46 sarcoplasmic reticulum calcium ion transport GO:0070296 9.72 ANK2 ATP2A2 RYR2
47 membrane repolarization during action potential GO:0086011 9.71 KCNH2 KCNJ2
48 protein maturation by protein folding GO:0022417 9.71 CALR FKBP1B
49 response to caffeine GO:0031000 9.71 RYR1 RYR2
50 regulation of cardiac muscle cell membrane potential GO:0086036 9.71 ATP2A2 TRDN

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 9.99 ANK2 CALM1 CALM2 CALM3 RYR2 SCN5A
2 enzyme binding GO:0019899 9.97 ANK2 ATP2A2 RYR1 RYR2 SCN5A
3 protein domain specific binding GO:0019904 9.91 CALM1 CALM2 CALM3 SCN5A
4 ion channel activity GO:0005216 9.86 KCNH2 RYR1 RYR2 SCN5A
5 calcium ion binding GO:0005509 9.81 ASPH ATP2A2 CALM1 CALM2 CALM3 CALR
6 calcium-dependent protein binding GO:0048306 9.77 CALM1 CALM3 CASQ2
7 disordered domain specific binding GO:0097718 9.71 CALM1 CALM2 CALM3
8 protein serine/threonine kinase activator activity GO:0043539 9.7 CALM1 CALM2 CALM3
9 nitric-oxide synthase binding GO:0050998 9.65 CALM1 CALM3 SCN5A
10 adenylate cyclase binding GO:0008179 9.63 CALM1 CALM2 CALM3
11 calcium-release channel activity GO:0015278 9.61 RYR1 RYR2
12 calcium channel inhibitor activity GO:0019855 9.61 CALM1 CALM2 FKBP1B
13 nitric-oxide synthase regulator activity GO:0030235 9.6 CALM1 CALM3
14 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.58 KCNH2 KCNJ2
15 protein phosphatase activator activity GO:0072542 9.58 CALM1 CALM2 CALM3
16 calcium-induced calcium release activity GO:0048763 9.55 RYR1 RYR2
17 adenylate cyclase activator activity GO:0010856 9.54 CALM1 CALM2 CALM3
18 ryanodine-sensitive calcium-release channel activity GO:0005219 9.5 FKBP1B RYR1 RYR2
19 type 3 metabotropic glutamate receptor binding GO:0031800 9.49 CALM1 CALM3
20 N-terminal myristoylation domain binding GO:0031997 9.43 CALM1 CALM2 CALM3
21 titin binding GO:0031432 9.26 CALM1 CALM2 CALM3 MYBPC3
22 ion channel binding GO:0044325 9.23 ANK2 CALM1 CALM2 CALM3 FKBP1B RYR2
23 protein binding GO:0005515 10.51 ANK2 ASPH ATP2A2 CALM1 CALM2 CALM3

Sources for Catecholaminergic Polymorphic Ventricular Tachycardia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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