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VF1
MCID: VNT034
MIFTS: 67

Ventricular Fibrillation, Paroxysmal Familial, 1 (VF1)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Ventricular Fibrillation, Paroxysmal Familial, 1

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MalaCards integrated aliases for Ventricular Fibrillation, Paroxysmal Familial, 1:

Name: Ventricular Fibrillation, Paroxysmal Familial, 1 57 73
Paroxysmal Familial Ventricular Fibrillation 19 28 5 71
Ventricular Fibrillation, Idiopathic 19 75 53
Ventricular Fibrillation 71 75 33
Ivf 57 19 73
Ventricular Fibrillation, Paroxysmal Familial, Type 1 28 5
Ventricular Fibrillation, Familial, 1 57 12
Paroxysmal Ventricular Fibrillation 19 75
Idiopathic Ventricular Fibrillation 19 33
Vf1 57 73
Vf 57 73
Susceptibility to Ventricular Fibrillation During Myocardial Infarction 73
Familial Paroxysmal Ventricular Fibrillation 1 73
Ventricular Fibrillation, Paroxysmal Familial 19
Ventricular Fibrillation Adverse Event 71

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD11: 33


External Ids:

OMIM® 57 603829
MeSH 43 D014693
MedGen 40 C2751898
UMLS 71 C0042510 C0340493 C1962976
Sources

Summaries for Ventricular Fibrillation, Paroxysmal Familial, 1

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OMIM®: 57 Ventricular fibrillation (VF) is said to cause more than 300,000 sudden deaths each year in the US alone. In approximately 5 to 12% of cases, there are no demonstrable cardiac or noncardiac causes to account for the episode, which is therefore classified as idiopathic ventricular fibrillation (IVF). Patients with a distinct form of VF called Brugada syndrome (see 601144) present with a characteristic electrocardiographic pattern, with right bundle branch block (RBBB) and elevation of ST segment in leads V1 to V3 and may account for 40 to 60% of all IVF cases (review by Chen et al., 1998). Mutations in the SCN5A gene were identified in patients with Brugada syndrome-1 (601144). (603829) (Updated 08-Dec-2022)

MalaCards based summary: Ventricular Fibrillation, Paroxysmal Familial, 1, also known as paroxysmal familial ventricular fibrillation, is related to ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy and long qt syndrome 10, and has symptoms including chest pain An important gene associated with Ventricular Fibrillation, Paroxysmal Familial, 1 is SCN5A (Sodium Voltage-Gated Channel Alpha Subunit 5), and among its related pathways/superpathways are Cardiac conduction and Dopamine-DARPP32 Feedback onto cAMP Pathway. The drugs Grape and Racepinephrine have been mentioned in the context of this disorder. Affiliated tissues include heart, thyroid and brain, and related phenotypes are syncope and tachycardia

GARD: 19 A rare, genetic, cardiac rhythm disease characterized by ventricular fibrillation in the absence of any structural or functional heart disease, or known repolarization abnormalities. The presence of J waves is associated with a higher risk of nocturnal ventricular fibrillation events and a higher risk of recurrence.

UniProtKB/Swiss-Prot: 73 A cardiac arrhythmia marked by fibrillary contractions of the ventricular muscle due to rapid repetitive excitation of myocardial fibers without coordinated contraction of the ventricle and by absence of atrial activity.

Wikipedia: 75 Ventricular fibrillation (V-fib or VF) is an abnormal heart rhythm in which the ventricles of the heart... more...
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Related Diseases for Ventricular Fibrillation, Paroxysmal Familial, 1

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Diseases in the Ventricular Fibrillation, Paroxysmal Familial, 1 family:

Ventricular Fibrillation, Paroxysmal Familial, 2

Diseases related to Ventricular Fibrillation, Paroxysmal Familial, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 809)
# Related Disease Score Top Affiliating Genes
1 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 32.4 RYR2 CACNA1C
2 long qt syndrome 10 31.3 SCN5A KCNJ5 KCNE2 KCNE1
3 hypokalemia 31.2 KCNQ1 KCNJ5 KCNH2
4 long qt syndrome 6 31.1 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
5 progressive familial heart block 31.1 SCN5A KCNQ1
6 cardiac conduction defect 31.0 SCN5A RYR2 KCNQ1 CACNA1C
7 long qt syndrome 11 31.0 KCNQ1 KCNJ5 KCNE2 KCNE1 CACNA1C
8 brugada syndrome 30.9 TNNT2 SCN5A RYR2 KCNQ1 KCNJ5 KCNH2
9 cardiac arrhythmia, ankyrin-b-related 30.9 SCN5A RYR2 KCNQ1 KCNJ5 KCNH2 KCNE2
10 long qt syndrome 5 30.9 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1 CACNA1C
11 coronary artery vasospasm 30.8 TNNT2 KNG1
12 cardiac arrest 30.7 TNNT2 SCN5A RYR2 KCNQ1 KCNH2
13 brugada syndrome 1 30.6 SCN5A RYR2 KCNH2
14 myocardial infarction 30.5 TNNT2 SCN5A KNG1 KCNQ1 KCNJ5
15 long qt syndrome 3 30.4 SCN5A RYR2 KCNQ1 KCNJ5 KCNH2 KCNE2
16 long qt syndrome 2 30.4 SCN5A RYR2 KCNQ1 KCNJ5 KCNH2 KCNE2
17 familial long qt syndrome 30.3 SCN5A KCNQ1 KCNH2 KCNE1
18 right bundle branch block 30.3 TNNT2 SCN5A RYR2 KCNH2 CACNA1C
19 long qt syndrome 14 30.3 SCN5A KCNQ1 KCNH2
20 sick sinus syndrome 30.2 SCN5A RYR2 KCNE1 CACNA1C
21 ischemia 30.1 TNNT2 SLC9A1 KNG1 KCNJ5
22 first-degree atrioventricular block 30.0 SCN5A KCNH2
23 familial short qt syndrome 30.0 KCNQ1 KCNH2
24 left bundle branch hemiblock 30.0 TNNT2 SCN5A RYR2
25 restrictive cardiomyopathy 30.0 TNNT2 SCN5A RYR2
26 syncope 30.0 TNNT2 SCN5A RYR2 KCNQ1 KCNH2
27 wolff-parkinson-white syndrome 29.9 TNNT2 SCN5A KCNQ1 KCNH2
28 congestive heart failure 29.9 TNNT2 SCN5A KNG1 KCNQ1 KCNE2
29 third-degree atrioventricular block 29.9 SCN5A RYR2 KCNQ1 KCNH2 KCNE2 KCNE1
30 tetralogy of fallot 29.8 TNNT2 SCN5A RYR2 KCNH2
31 arrhythmogenic right ventricular cardiomyopathy 29.7 TNNT2 SCN5A RYR2 KCNQ1 KCNH2 CACNA1C
32 brugada syndrome 4 29.6 SCN5A KCNQ1 KCNH2 CACNA1C
33 atrioventricular block 29.6 TNNT2 SCN5A RYR2 KCNQ1 KCNH2 KCNE2
34 myocardial stunning 29.6 TNNT2 SLC9A1 KNG1 KCNJ5
35 cardiovascular system disease 29.5 SCN5A KNG1 KCNQ1 KCNH2
36 hypokalemic periodic paralysis, type 1 29.4 SCN5A KCNQ1 KCNJ5 KCNE1 CACNA1C
37 cardiomyopathy, familial hypertrophic, 1 29.3 TNNT2 SCN5A RYR2 KCNQ1 KCNH2 CACNA1C
38 atrial fibrillation 29.2 SCN5A RYR2 KCNQ1 KCNH2 KCNE2 KCNE1
39 autonomic nervous system disease 29.2 NGF KNG1
40 paine syndrome 29.2 SCN5A NGF KNG1
41 sudden infant death syndrome 29.2 SCN5A RYR2 NGF KCNQ1 KCNH2
42 jervell and lange-nielsen syndrome 1 29.1 SCN5A RYR2 KCNQ1 KCNH2 KCNE2 KCNE1
43 timothy syndrome 29.1 SCN5A RYR2 KCNQ1 KCNH2 KCNE2 KCNE1
44 long qt syndrome 29.0 TNNT2 SCN5A RYR2 KCNQ1 KCNJ5 KCNH2
45 catecholaminergic polymorphic ventricular tachycardia 29.0 TNNT2 SCN5A RYR2 KCNQ1 KCNJ5 KCNH2
46 familial atrial fibrillation 29.0 SCN5A RYR2 KCNQ1 KCNJ5 KCNH2 KCNE2
47 short qt syndrome 29.0 SCN5A RYR2 KCNQ1 KCNJ5 KCNH2 KCNE2
48 hypertrophic cardiomyopathy 28.9 TNNT2 SCN5A RYR2 KCNQ1 KCNH2 KCNE2
49 migraine with or without aura 1 28.8 SCN5A NGF KNG1 CACNA1C
50 long qt syndrome 1 28.7 TNNT2 SCN5A RYR2 KCNQ1 KCNJ5 KCNH2

Comorbidity relations with Ventricular Fibrillation, Paroxysmal Familial, 1 via Phenotypic Disease Network (PDN): (show all 20)


Acute Cystitis Acute Kidney Failure
Aortic Valve Disease 1 Cardiac Arrest
Cardiogenic Shock Chronic Kidney Disease
Deficiency Anemia Dressler's Syndrome
Familial Atrial Fibrillation First-Degree Atrioventricular Block
Heart Disease Hypertension, Essential
Intermediate Coronary Syndrome Mitral Valve Disease
Ocular Motor Apraxia Peripheral Vascular Disease
Respiratory Failure Sinoatrial Node Disease
Third-Degree Atrioventricular Block Tricuspid Valve Disease

Graphical network of the top 20 diseases related to Ventricular Fibrillation, Paroxysmal Familial, 1:



Diseases related to Ventricular Fibrillation, Paroxysmal Familial, 1
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Symptoms & Phenotypes for Ventricular Fibrillation, Paroxysmal Familial, 1

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Human phenotypes related to Ventricular Fibrillation, Paroxysmal Familial, 1:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 syncope 30 HP:0001279
2 tachycardia 30 HP:0001649
3 ventricular fibrillation 30 HP:0001663

Clinical features from OMIM®:

603829 (Updated 08-Dec-2022)

UMLS symptoms related to Ventricular Fibrillation, Paroxysmal Familial, 1:


chest pain

MGI Mouse Phenotypes related to Ventricular Fibrillation, Paroxysmal Familial, 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.02 CACNA1C CHKB KCNE1 KCNQ1 NGF RYR2
2 homeostasis/metabolism MP:0005376 10 CACNA1C CHKB KCNE1 KCNE2 KCNH2 KCNQ1
3 muscle MP:0005369 9.97 CACNA1C CHKB KCNE1 KCNH2 KCNQ1 NGF
4 growth/size/body region MP:0005378 9.9 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1 KNG1
5 cardiovascular system MP:0005385 9.65 CACNA1C KCNE1 KCNH2 KCNJ5 KCNQ1 NGF
6 behavior/neurological MP:0005386 9.28 CACNA1C CHKB KCNE1 KCNQ1 KNG1 NGF
Sources

Drugs & Therapeutics for Ventricular Fibrillation, Paroxysmal Familial, 1

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Drugs for Ventricular Fibrillation, Paroxysmal Familial, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 69)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Grape Approved Phase 4
2
Racepinephrine Approved, Vet_approved Phase 4 51-43-4, 329-65-7 838 5816
3
Nifekalant Investigational Phase 4 130636-43-0 101625661
4 Pharmaceutical Solutions Phase 4
5 Epinephryl borate Phase 4
6 Neurotransmitter Agents Phase 4
7 Bronchodilator Agents Phase 4
8 Adrenergic beta-Agonists Phase 4
9 Anti-Asthmatic Agents Phase 4
10 Adrenergic alpha-Agonists Phase 4
11 Adrenergic Agonists Phase 4
12 Adrenergic Agents Phase 4
13 Vasoconstrictor Agents Phase 4
14 Respiratory System Agents Phase 4
15 Mydriatics Phase 4
16 Sympathomimetics Phase 4
17
Amiodarone Approved, Investigational Phase 3 1951-25-3 2157
18
Lidocaine Approved, Vet_approved Phase 3 137-58-6 3676
19
Quinidine Approved, Investigational Phase 3 56-54-2, 130-95-0, 804-63-7 1065 441074 3034034 8549
20
Imipramine Approved Phase 3 50-49-7 3696
21
Procainamide Approved Phase 3 51-06-9 4913
22
Sotalol Approved Phase 3 959-24-0, 3930-20-9 5253
23
Mexiletine Approved, Investigational Phase 3 5370-01-4, 31828-71-4 4178
24
Propafenone Approved Phase 3 34183-22-7, 54063-53-5 4932
25
Propranolol Approved, Investigational Phase 3 318-98-9, 525-66-6 62882 4946
26
Bupivacaine Approved, Investigational Phase 3 2180-92-9, 38396-39-3 2474
27 Anesthetics, Local Phase 3
28 Adrenergic beta-Antagonists Phase 3
29 Adrenergic Antagonists Phase 3
30 Antihypertensive Agents Phase 3
31 Sympatholytics Phase 3
32 Adrenergic alpha-Antagonists Phase 3
33 Anti-Infective Agents Phase 3
34 Antiprotozoal Agents Phase 3
35 Sodium Channel Blockers Phase 3
36
Quinidine gluconate Phase 3
37 Antiparasitic Agents Phase 3
38 Vasodilator Agents Phase 3
39 Antimalarials Phase 3
40 Cytochrome P-450 Enzyme Inhibitors Phase 3
41 Muscarinic Antagonists Phase 3
42 Cholinergic Antagonists Phase 3
43 Cholinergic Agents Phase 3
44 Diuretics, Potassium Sparing Phase 3
45 Potassium Channel Blockers Phase 3
46 Cytochrome P-450 CYP3A Inhibitors Phase 3
47 Psychotropic Drugs Phase 3
48 Antidepressive Agents, Tricyclic Phase 3
49 Antidepressive Agents Phase 3
50 Anesthetics Phase 3

Interventional clinical trials:

(show top 50) (show all 134)
# Name Status NCT ID Phase Drugs
1 Evaluation of the Efficacy and Safety of Nifekalant Hydrochloride (NIF) Injection in the Treatment of Ventricular Tachycardia and Ventricular Fibrillation. A Multicenter, Randomized, Controlled, Open-label, Clinical Trial. Unknown status NCT03855826 Phase 4 Nifekalant hydrochloride;Amiodarone
2 Reduction And Prevention of Tachyarrhythmias and Shocks Using Reduced Ventricular Pacing With Atrial Algorithms (The RAPTURE Study) Completed NCT00787800 Phase 4
3 Remote Follow-up for ICD-Therapy in Patients Meeting MADIT II Criteria (REFORM) Completed NCT00401466 Phase 4
4 IN-TIME: Influence of Home Monitoring on the Clinical Status of Heart Failure Patients Completed NCT00538356 Phase 4
5 ADVANCE-D: ATP Delivery for Painless ICD Therapy Completed NCT00147277 Phase 4
6 VERRARI - "Are Ventricular Arrhythmic Episodes Reduced by Rate Response in ICDs?" Completed NCT00180427 Phase 4
7 ADVANCE CRT - D: ATP Delivery for Painless ICD Therapy Completed NCT00147290 Phase 4
8 CanROC Epinephrine Dose: Optimal Versus Standard Evaluation Trial (CanROC EpiDOSE Trial) Not yet recruiting NCT03826524 Phase 4 Epinephrine
9 Prospective, Randomized and Blind Comparative Analysis Between Attraction of Restrict Control Versus Liberal Cardiac Frequency in Patients in Sepse With Atrial Fibrillation of High Ventricular Response Unknown status NCT03715556 Phase 3 Amiodarone;0.9% physiological solution
10 A Multicentre Prospective Randomised Study Comparing the Efficacy of High Versus Low Biphasic Energy Defibrillation in Patients With Cardiac Arrest Unknown status NCT00429611 Phase 3
11 VENTAK CHF/CONTAK CD Biventricular Pacing Study Completed NCT00387803 Phase 2, Phase 3
12 Automated External Defibrillator (AED) Use in Out-of-Hospital Cardiac Arrest: A New Algorithm Named "One Shock Per Minute" Completed NCT00139542 Phase 3
13 Cardiac Arrest in Seattle: Conventional Versus Amiodarone Drug Evaluation (CASCADE) Completed NCT00000464 Phase 3 amiodarone;imipramine;mexiletine;procainamide;propafenone;quinidine;sotalol
14 Electrophysiologic Study Versus Electrocardiographic Monitoring (ESVEM) Completed NCT00000518 Phase 3 imipramine;mexiletine;procainamide;quinidine;sotalol
15 CONTAK RENEWAL 4 AVT Field Following Completed NCT00180336 Phase 2, Phase 3
16 Public Access Defibrillation (PAD) Community Trial Completed NCT00004560 Phase 3
17 Fatty Acid Antiarrhythmia Trial (FAAT) Completed NCT00004559 Phase 3
18 Evaluation of SC-V Versus Conventional CPR Completed NCT00000502 Phase 3
19 Beta-Blocker Heart Attack Trial (BHAT) Completed NCT00000492 Phase 3 propranolol
20 Antiarrhythmics Versus Implantable Defibrillators (AVID) Completed NCT00000531 Phase 3 amiodarone amiodarone;sotalol
21 Amiodarone, Lidocaine or Neither for Out-Of-Hospital Cardiac Arrest Due to Ventricular Fibrillation (VF) or Ventricular Tachycardia (VT) Completed NCT01401647 Phase 3 amiodarone;Lidocaine
22 Prophylactic Cardiac Sympathetic Denervation for Prevention of Ventricular Tachyarrhythmias (PREVENT VT) Recruiting NCT01013714 Phase 3 Routine Care
23 Ganglion Stellate Block for Treatment of Electric Storm - a Randomized Study Recruiting NCT05078684 Phase 3
24 Antiarrhythmic Effects of N-3 Fatty Acids Completed NCT00004558 Phase 2
25 Double Blind Placebo Controlled Dose Ranging Study of the Efficacy and Safety of SSR149744C 100 OR 300 mg for the Prevention of Ventricular Arrhythmia-Triggered ICD Interventions Completed NCT00232297 Phase 2 SSR149744C
26 Quinidine Versus Verapamil in Short-coupled Idiopathic Ventricular Fibrillation: an Open-label, Randomized Crossover Pilot Trial Recruiting NCT05593757 Phase 2 Quinidine;Verapamil
27 Evaluation of the Effectiveness of Potassium Chloride in the Management of Out-of-hospital Cardiac Arrest by Refractory Ventricular Fibrillation Not yet recruiting NCT04316611 Phase 2 Potassium chloride
28 Treatment of Ventricular Tachyarrhythmias Refractory To Shock With Beta Blockers: The SHOCK and BLOCK Trial Terminated NCT00401882 Phase 2 Epinephrine;Metoprolol
29 Automatic External Defibrillation Monitoring in Cardiac Arrest Completed NCT00382928 Phase 1
30 Change of EEG Activity and Cerebral Circulation During Induced Ventricular Fibrillation and Investigation of Cognitive Function Before and After Induced Ventricular Fibrillation in EP Study Unknown status NCT00176176
31 Italian Registry On Multipoint Left Ventricular Unknown status NCT02606071
32 Arrhythmia Genetics in the NEtherlandS Unknown status NCT03007199
33 Feasibility Study of a Pre-hospital Extra-corporeal Membrane Oxygenation (ECMO) Capable Advanced Resuscitation Team at Achieving Blood Flow Within 30 Minutes in Patients With Refractory Cardiac Arrest. Unknown status NCT03700125
34 Registry of Malignant Arrhythmias and Sudden Cardiac Death - Influence of Diagnostics and Interventions Unknown status NCT02982473
35 Post-marketing Registration Study of Nifekalant Hydrochloride (NIF) Injection Unknown status NCT03853369 Nifekalant hydrochloride
36 Out-of Hospital Resuscitation Study Unknown status NCT00196248
37 Multicenter Registry on Patients Affected by Electrical Storm Unknown status NCT02882139
38 PREDICTion of Implantable-Cardioverter Defibrillator Shock Study Unknown status NCT01822145
39 Identification of Ventricular Fibrillation and Optimization of Defibrillation During Chest Compression of CPR: A Multiple Study of Cardiac Arrest Patients in China. Unknown status NCT02952105
40 Indicators of Coagulation Activation and Inflammation Contributing to Ventricular Fibrillation Complicating Acute Myocardial Infarction Unknown status NCT00175942
41 Cardioverter Defibrillator Replacement With Induction of Ventricular Fibrillation and Defibrillation Testing Unknown status NCT02513030
42 Circulating Biomarkers and Ventricular Tachyarrhythmia Completed NCT01892462
43 SAFEty of Two Strategies of ICD Management at Implantation Completed NCT00661037
44 Cardiac Rehab Retrospective Review (CR3) Completed NCT04675957
45 Comparison of Right Ventricular Septal and Right Ventricular Apical Pacing in Patients Receiving a CRT-D Device Completed NCT00833352
46 Feature Assessment Study for Indications Based Programming Completed NCT00711893
47 Diagnostic Data Influence on Disease Management and Relation of Genetic Polymorphisms to Tachy-arrhythmia in ICD Patients. Completed NCT00478933
48 Physicians in Training and Critical Care Nurses Performance in Medical Code Events: Effect of Simulation-Based Training Completed NCT02707185
49 Shockless Implant Evaluation Completed NCT00800384
50 Professional Rescuers Cardiopulmonary Resuscitation Performance After Implementation of a Defibrillation Algorithm for Early Treatment of Refibrillation, an Observational Study. Completed NCT04691089

Search NIH Clinical Center for Ventricular Fibrillation, Paroxysmal Familial, 1

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Acebutolol
Acebutolol Hydrochloride
Amiodarone
Amiodarone hydrochloride
Atenolol
bretylium
Bretylium Tosylate
Edetic Acid, Disodium Salt
Epinephrine
epinephrine bitartrate
epinephrine hydrochloride
epinephryl borate
esmolol
Esmolol hydrochloride
Isoproterenol
Isoproterenol Hydrochloride
Isoproterenol Sulfate
Lidocaine
LIDOCAINE HCL PWDR
Lidocaine Hydrochloride
LIDOCAINE PWDR
Magnesium Sulfate
Metoprolol
metoprolol succinate
Metoprolol Tartrate
Mexiletine
Mexiletine Hydrochloride
Moricizine
Moricizine hydrochloride
Propranolol
Propranolol Hydrochloride
Racepinephrine Hydrochloride
Sotalol
Sotalol Hydrochloride
Vasopressin (USP)
VASOPRESSIN TANNATE (IN OIL)
Sources

Genetic Tests for Ventricular Fibrillation, Paroxysmal Familial, 1

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Genetic tests related to Ventricular Fibrillation, Paroxysmal Familial, 1:

# Genetic test Affiliating Genes
1 Ventricular Fibrillation, Paroxysmal Familial, Type 1 28 SCN5A
2 Paroxysmal Familial Ventricular Fibrillation 28
Sources

Anatomical Context for Ventricular Fibrillation, Paroxysmal Familial, 1

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Organs/tissues related to Ventricular Fibrillation, Paroxysmal Familial, 1:

MalaCards : Heart, Thyroid, Brain, Bone Marrow, Cardiac Myocytes, Lung, Atrioventricular Node
Sources

Publications for Ventricular Fibrillation, Paroxysmal Familial, 1

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Articles related to Ventricular Fibrillation, Paroxysmal Familial, 1:

(show top 50) (show all 18971)
# Title Authors PMID Year
1
A novel SCN5A mutation associated with idiopathic ventricular fibrillation without typical ECG findings of Brugada syndrome. 53 62 57 5
10940383 2000
2
Genome-wide association study identifies a susceptibility locus at 21q21 for ventricular fibrillation in acute myocardial infarction. 62 57
20622880 2010
3
Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. 62 57
9521325 1998
4
Mode of onset of malignant ventricular arrhythmias in idiopathic ventricular fibrillation. 62 57
9363814 1997
5
Idiopathic ventricular fibrillation. 62 57
2202193 1990
6
Paroxysmal familial ventricular fibrillation. 62 57
4834245 1974
7
Loss-of-function mutation of the SCN3B-encoded sodium channel {beta}3 subunit associated with a case of idiopathic ventricular fibrillation. 53 62
20042427 2010
8
Therapeutic effect of {beta}-adrenoceptor blockers using a mouse model of dilated cardiomyopathy with a troponin mutation. 53 62
19477965 2009
9
Characterization of a novel Nav1.5 channel mutation, A551T, associated with Brugada syndrome. 53 62
19706159 2009
10
MinK-dependent internalization of the IKs potassium channel. 53 62
19202166 2009
11
Dynamic change in ST-segment and spontaneous occurrence of ventricular fibrillation in Brugada syndrome with a novel nonsense mutation in the SCN5A gene during long-term follow-up. 53 62
19075524 2009
12
Fever-induced QTc prolongation and ventricular arrhythmias in individuals with type 2 congenital long QT syndrome. 53 62
18551196 2008
13
Atrial fibrillation in patients with Brugada syndrome relationships of gene mutation, electrophysiology, and clinical backgrounds. 53 62
18355654 2008
14
Brugada syndrome unmasked by accidental inhalation of gasoline vapors. 53 62
17897138 2007
15
Novel mutation in the SCN5A gene associated with arrhythmic storm development during acute myocardial infarction. 53 62
17675083 2007
16
Electrocardiogram interpretation and class I blocker challenge in Brugada syndrome. 53 62
16934827 2006
17
A novel SCN5A mutation, F1344S, identified in a patient with Brugada syndrome and fever-induced ventricular fibrillation. 53 62
16616735 2006
18
High-efficiency multiplex capillary electrophoresis single strand conformation polymorphism (multi-CE-SSCP) mutation screening of SCN5A: a rapid genetic approach to cardiac arrhythmia. 53 62
16712702 2006
19
Monomorphic ventricular tachycardia due to Brugada syndrome successfully treated by hydroquinidine therapy in a 3-year-old child. 53 62
16426410 2006
20
Common sodium channel promoter haplotype in asian subjects underlies variability in cardiac conduction. 53 62
16415376 2006
21
Short QT syndrome. 53 62
15890322 2005
22
A novel missense mutation in the SCN5A gene associated with Brugada syndrome bidirectionally affecting blocking actions of antiarrhythmic drugs. 53 62
15877619 2005
23
Comparison of the effects of metoclopramide and domperidone on HERG channels. 53 62
15640612 2005
24
Clinical and electrophysiological characteristics of Brugada syndrome caused by a missense mutation in the S5-pore site of SCN5A. 53 62
15828879 2005
25
Assessment of markers for identifying patients at risk for life-threatening arrhythmic events in Brugada syndrome. 53 62
15673386 2005
26
Further insights into the effect of quinidine in short QT syndrome caused by a mutation in HERG. 53 62
15673388 2005
27
Functional characterization of a trafficking-defective HCN4 mutation, D553N, associated with cardiac arrhythmia. 53 62
15123648 2004
28
Single nucleotide polymorphisms of the SCN5A gene in Han Chinese and their relation with Brugada syndrome. 53 62
15161528 2004
29
Two components of delayed rectifier K+ current in heart: molecular basis, functional diversity, and contribution to repolarization. 53 62
14769199 2004
30
[Single nucleotide polymorphism in SCN5A and the distribution in Chinese Han ethnic group]. 53 62
14985827 2004
31
Genetic analysis of the cardiac sodium channel gene SCN5A in Koreans with Brugada syndrome. 53 62
15338453 2004
32
Mutational screening of SCN5A linked disorders in Polish patients and their family members. 53 62
15306732 2004
33
Is timing everything? Therapeutic potential of modulators of cardiac Na(+) transporters. 53 62
12831348 2003
34
Nucleotide changes in the translated region of SCN5A from Japanese patients with Brugada syndrome and control subjects. 53 62
12639704 2003
35
Inherited arrhythmic disorders in Japan. 53 62
12741719 2003
36
Novel brugada SCN5A mutation leading to ST segment elevation in the inferior or the right precordial leads. 53 62
12693506 2003
37
SNP S1103Y in the cardiac sodium channel gene SCN5A is associated with cardiac arrhythmias and sudden death in a white family. 53 62
12471205 2002
38
Cardiotoxicity of macrolides, ketolides and fluoroquinolones that prolong the QTc interval. 53 62
12904146 2002
39
Slowed conduction and ventricular tachycardia after targeted disruption of the cardiac sodium channel gene Scn5a. 53 62
11972032 2002
40
Expression and intracellular localization of an SCN5A double mutant R1232W/T1620M implicated in Brugada syndrome. 53 62
11786529 2002
41
Novel mechanism for Brugada syndrome: defective surface localization of an SCN5A mutant (R1432G). 53 62
11420310 2001
42
Sympathetic nerve sprouting, electrical remodeling and the mechanisms of sudden cardiac death. 53 62
11334845 2001
43
Molecular biology and cellular mechanisms of Brugada and long QT syndromes in infants and young children. 53 62
11781953 2001
44
Cardiac Na(+) channel dysfunction in Brugada syndrome is aggravated by beta(1)-subunit. 53 62
10618304 2000
45
HMR 1883, a cardioselective K(ATP) channel blocker, inhibits ischaemia- and reperfusion-induced ventricular fibrillation in rats. 53 62
10543431 1999
46
MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia. 53 62
10219239 1999
47
The LQT syndromes--current status of molecular mechanisms. 53 62
10408028 1999
48
The eag family of K+ channels in Drosophila and mammals. 53 62
10414305 1999
49
Role of kinins in the pathophysiology of myocardial ischemia. In vitro and in vivo studies. 53 62
8529801 1996
50
Usefulness of CKMB and troponin T determinations in patients with acute myocardial infarction complicated by ventricular fibrillation. 53 62
8416755 1993
Sources

Variations for Ventricular Fibrillation, Paroxysmal Familial, 1

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ClinVar genetic disease variations for Ventricular Fibrillation, Paroxysmal Familial, 1:

5 (show top 50) (show all 255)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SCN5A NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) SNV Pathogenic
 39444 rs45546039 GRCh37: 3:38655272-38655272
GRCh38: 3:38613781-38613781
2 SCN5A NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu) SNV Pathogenic
 9383 rs137854604 GRCh37: 3:38592734-38592734
GRCh38: 3:38551243-38551243
3 SCN5A NM_000335.5(SCN5A):c.5869C>T (p.Arg1957Ter) SNV Pathogenic
 201546 rs757532106 GRCh37: 3:38591991-38591991
GRCh38: 3:38550500-38550500
4 SCN5A NM_000335.5(SCN5A):c.1099C>T (p.Arg367Cys) SNV Pathogenic
 67633 rs199473097 GRCh37: 3:38648201-38648201
GRCh38: 3:38606710-38606710
5 RYR2 NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn) SNV Likely Pathogenic
 36739 rs193922623 GRCh37: 1:237664074-237664074
GRCh38: 1:237500774-237500774
6 SCN5A NM_000335.5(SCN5A):c.1567C>T (p.Arg523Cys) SNV Likely Pathogenic
 67667 rs199473119 GRCh37: 3:38645526-38645526
GRCh38: 3:38604035-38604035
7 CACNA1C NM_001167623.2(CACNA1C):c.1204G>A (p.Gly402Ser) SNV Likely Pathogenic
 155775 rs587782933 GRCh37: 12:2613692-2613692
GRCh38: 12:2504526-2504526
8 RYR2 NM_001035.3(RYR2):c.14635C>A (p.Gln4879Lys) SNV Likely Pathogenic
 180506 rs730880200 GRCh37: 1:237991725-237991725
GRCh38: 1:237828425-237828425
9 LMNA NM_170707.4(LMNA):c.80C>G (p.Thr27Ser) SNV Uncertain Significance
 217834 rs863225270 GRCh37: 1:156084789-156084789
GRCh38: 1:156114998-156114998
10 DSP NM_004415.4(DSP):c.7186T>A (p.Tyr2396Asn) SNV Uncertain Significance
 217831 rs863225268 GRCh37: 6:7584681-7584681
GRCh38: 6:7584448-7584448
11 SCN5A NM_000335.5(SCN5A):c.*2149G>A SNV Uncertain Significance
 345060 rs114517792 GRCh37: 3:38589663-38589663
GRCh38: 3:38548172-38548172
12 SCN5A NM_000335.5(SCN5A):c.*382T>C SNV Uncertain Significance
 345101 rs45459402 GRCh37: 3:38591430-38591430
GRCh38: 3:38549939-38549939
13 VCL NM_014000.3(VCL):c.2050A>G (p.Arg684Gly) SNV Uncertain Significance
 180585 rs730880249 GRCh37: 10:75863605-75863605
GRCh38: 10:74103847-74103847
14 DPP6 NM_130797.4(DPP6):c.1714+1G>T SNV Uncertain Significance
 587527 rs1563285184 GRCh37: 7:154645538-154645538
GRCh38: 7:154853828-154853828
15 JPH2 NM_020433.5(JPH2):c.723C>G (p.Ser241Arg) SNV Uncertain Significance
 155801 rs587782952 GRCh37: 20:42788704-42788704
GRCh38: 20:44160064-44160064
16 SCN5A NM_000335.5(SCN5A):c.*1932C>T SNV Uncertain Significance
 345065 rs886058437 GRCh37: 3:38589880-38589880
GRCh38: 3:38548389-38548389
17 SCN5A NM_000335.5(SCN5A):c.-53+12C>T SNV Uncertain Significance
 345130 rs886058464 GRCh37: 3:38691010-38691010
GRCh38: 3:38649519-38649519
18 SCN5A NM_000335.5(SCN5A):c.*1568G>C SNV Uncertain Significance
 345074 rs45503498 GRCh37: 3:38590244-38590244
GRCh38: 3:38548753-38548753
19 SCN5A NM_000335.5(SCN5A):c.*2135C>A SNV Uncertain Significance
 345062 rs45502793 GRCh37: 3:38589677-38589677
GRCh38: 3:38548186-38548186
20 TTN NM_001267550.2(TTN):c.33501AGA[6] (p.Glu11172dup) MICROSAT Uncertain Significance
 46889 rs368327166 GRCh37: 2:179544685-179544686
GRCh38: 2:178679958-178679959
21 DSP NM_004415.4(DSP):c.6812A>C (p.Lys2271Thr) SNV Uncertain Significance
 180339 rs730880089 GRCh37: 6:7584307-7584307
GRCh38: 6:7584074-7584074
22 RBM20 NM_001134363.3(RBM20):c.3067G>T (p.Asp1023Tyr) SNV Uncertain Significance
 180483 rs730880186 GRCh37: 10:112581444-112581444
GRCh38: 10:110821686-110821686
23 SCN5A NM_000335.5(SCN5A):c.*1691G>T SNV Uncertain Significance
 345071 rs886058442 GRCh37: 3:38590121-38590121
GRCh38: 3:38548630-38548630
24 SCN5A NM_000335.5(SCN5A):c.4668C>T (p.Ile1556=) SNV Uncertain Significance
 345116 rs886058461 GRCh37: 3:38595912-38595912
GRCh38: 3:38554421-38554421
25 SCN5A NM_000335.5(SCN5A):c.-70C>T SNV Uncertain Significance
 345131 rs886058465 GRCh37: 3:38691039-38691039
GRCh38: 3:38649548-38649548
26 SCN5A NM_000335.5(SCN5A):c.6030C>A (p.Asp2010Glu) SNV Uncertain Significance
 345111 rs886058459 GRCh37: 3:38591830-38591830
GRCh38: 3:38550339-38550339
27 SCN5A NM_000335.5(SCN5A):c.*1701G>T SNV Uncertain Significance
 345070 rs886058441 GRCh37: 3:38590111-38590111
GRCh38: 3:38548620-38548620
28 SCN5A NM_000335.5(SCN5A):c.*1443C>A SNV Uncertain Significance
 345078 rs886058445 GRCh37: 3:38590369-38590369
GRCh38: 3:38548878-38548878
29 SCN5A NM_000335.5(SCN5A):c.*331T>C SNV Uncertain Significance
 345102 rs551399685 GRCh37: 3:38591481-38591481
GRCh38: 3:38549990-38549990
30 LOC110121269, SCN5A NM_000335.5(SCN5A):c.2815C>T (p.Leu939Phe) SNV Uncertain Significance
 345122 rs886058462 GRCh37: 3:38622835-38622835
GRCh38: 3:38581344-38581344
31 SCN5A NM_000335.5(SCN5A):c.*160G>A SNV Uncertain Significance
 345106 rs772585696 GRCh37: 3:38591652-38591652
GRCh38: 3:38550161-38550161
32 SCN5A NM_000335.5(SCN5A):c.*296G>A SNV Uncertain Significance
 345103 rs886058456 GRCh37: 3:38591516-38591516
GRCh38: 3:38550025-38550025
33 SCN5A NM_000335.5(SCN5A):c.*1744C>G SNV Uncertain Significance
 345067 rs886058439 GRCh37: 3:38590068-38590068
GRCh38: 3:38548577-38548577
34 SCN5A NM_000335.5(SCN5A):c.*486C>T SNV Uncertain Significance
 345100 rs886058455 GRCh37: 3:38591326-38591326
GRCh38: 3:38549835-38549835
35 SCN5A NM_000335.5(SCN5A):c.1870C>A (p.Leu624Ile) SNV Uncertain Significance
 345126 rs886058463 GRCh37: 3:38645223-38645223
GRCh38: 3:38603732-38603732
36 SCN5A NM_000335.5(SCN5A):c.*747G>A SNV Uncertain Significance
 345093 rs763830252 GRCh37: 3:38591065-38591065
GRCh38: 3:38549574-38549574
37 SCN5A NM_000335.5(SCN5A):c.*980C>A SNV Uncertain Significance
 345086 rs886058449 GRCh37: 3:38590832-38590832
GRCh38: 3:38549341-38549341
38 SCN5A NM_000335.5(SCN5A):c.*1074C>G SNV Uncertain Significance
 345083 rs776171341 GRCh37: 3:38590738-38590738
GRCh38: 3:38549247-38549247
39 SCN5A NM_000335.5(SCN5A):c.*1048G>A SNV Uncertain Significance
 345084 rs886058447 GRCh37: 3:38590764-38590764
GRCh38: 3:38549273-38549273
40 SCN5A NM_000335.5(SCN5A):c.*1673C>T SNV Uncertain Significance
 345072 rs886058443 GRCh37: 3:38590139-38590139
GRCh38: 3:38548648-38548648
41 SCN5A NM_000335.5(SCN5A):c.4264G>A (p.Asp1422Asn) SNV Uncertain Significance
 222810 rs746291609 GRCh37: 3:38598754-38598754
GRCh38: 3:38557263-38557263
42 SCN5A NM_000335.5(SCN5A):c.*1602G>T SNV Uncertain Significance
 345073 rs886058444 GRCh37: 3:38590210-38590210
GRCh38: 3:38548719-38548719
43 SCN5A NM_000335.5(SCN5A):c.*663C>A SNV Uncertain Significance
 345097 rs540984871 GRCh37: 3:38591149-38591149
GRCh38: 3:38549658-38549658
44 SCN5A NM_000335.5(SCN5A):c.*516G>T SNV Uncertain Significance
 345099 rs886058454 GRCh37: 3:38591296-38591296
GRCh38: 3:38549805-38549805
45 SCN5A NM_000335.5(SCN5A):c.5521A>T (p.Met1841Leu) SNV Uncertain Significance
 899509 rs368967393 GRCh37: 3:38592339-38592339
GRCh38: 3:38550848-38550848
46 SCN5A NM_000335.5(SCN5A):c.5485C>A (p.Pro1829Thr) SNV Uncertain Significance
 899510 rs2061021014 GRCh37: 3:38592375-38592375
GRCh38: 3:38550884-38550884
47 SCN5A NM_000335.5(SCN5A):c.5942G>T (p.Arg1981Ile) SNV Uncertain Significance
 345113 rs774432823 GRCh37: 3:38591918-38591918
GRCh38: 3:38550427-38550427
48 SCN5A NM_000335.5(SCN5A):c.*204T>C SNV Uncertain Significance
 345105 rs147795595 GRCh37: 3:38591608-38591608
GRCh38: 3:38550117-38550117
49 SCN5A NM_000335.5(SCN5A):c.*990T>C SNV Uncertain Significance
 345085 rs886058448 GRCh37: 3:38590822-38590822
GRCh38: 3:38549331-38549331
50 SCN5A NM_000335.5(SCN5A):c.*1151G>A SNV Uncertain Significance
 899776 rs557896083 GRCh37: 3:38590661-38590661
GRCh38: 3:38549170-38549170

UniProtKB/Swiss-Prot genetic disease variations for Ventricular Fibrillation, Paroxysmal Familial, 1:

73
# Symbol AA change Variation ID SNP ID
1 SCN5A p.Ser1710Leu VAR_017685 rs137854604

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Expression for Ventricular Fibrillation, Paroxysmal Familial, 1

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Search GEO for disease gene expression data for Ventricular Fibrillation, Paroxysmal Familial, 1.
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Pathways for Ventricular Fibrillation, Paroxysmal Familial, 1

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Pathways related to Ventricular Fibrillation, Paroxysmal Familial, 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Cardiac conduction 66
Show member pathways
 12.29 TNNT2 SCN5A RYR2 KCNQ1 KCNH2 KCNE2
2
Dopamine-DARPP32 Feedback onto cAMP Pathway 64
11.99 KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1 CACNA1C
3
Sudden infant death syndrome (SIDS) susceptibility pathways 74
11.86 SCN5A RYR2 NGF KCNQ1 KCNH2
4
Potassium Channels 66
Show member pathways
 11.75 KCNQ1 KCNJ5 KCNH2
5
Antiarrhythmic Pathway, Pharmacodynamics 60
10.97 SCN5A RYR2 KCNQ1 KCNJ5 KCNH2 KCNE2
6
Phase 0 - rapid depolarisation 66
10.94 SCN5A CACNA1C
7
Genes targeted by miRNAs in adipocytes 74
10.44 KCNQ1 KCNE1
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GO Terms for Ventricular Fibrillation, Paroxysmal Familial, 1

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Cellular components related to Ventricular Fibrillation, Paroxysmal Familial, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.43 SLC9A1 SCN5A RYR2 KCNQ1 KCNJ5 KCNH2
2 membrane GO:0016021 10.43 SLC9A1 SCN5A RYR2 KCNQ1 KCNJ5 KCNH2
3 cell surface GO:0009986 10.03 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A SLC9A1
4 Z disc GO:0030018 9.76 SCN5A RYR2 KCNE1 CACNA1C
5 T-tubule GO:0030315 9.72 SLC9A1 SCN5A CACNA1C
6 sarcolemma GO:0042383 9.43 SLC9A1 SCN5A RYR2 CACNA1C
7 voltage-gated potassium channel complex GO:0008076 9.32 KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1

Biological processes related to Ventricular Fibrillation, Paroxysmal Familial, 1 according to GeneCards Suite gene sharing:

(show all 44)
# Name GO ID Score Top Affiliating Genes
1 potassium ion transmembrane transport GO:0071805 10.25 SLC9A1 KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
2 potassium ion import across plasma membrane GO:1990573 10.15 KCNE2 KCNH2 KCNJ5 KCNQ1
3 cellular response to xenobiotic stimulus GO:0071466 10.14 KCNQ1 KCNH2 KCNE2
4 cardiac muscle contraction GO:0060048 10.13 TNNT2 SCN5A RYR2 KCNQ1 KCNH2
5 cardiac muscle cell action potential involved in contraction GO:0086002 10.1 CACNA1C KCNE1 KCNE2 SCN5A
6 regulation of potassium ion transmembrane transport GO:1901379 10.09 KCNH2 KCNE2 KCNE1
7 transmembrane transport GO:0055085 10.08 SLC9A1 SCN5A RYR2 KCNQ1 KCNH2 CACNA1C
8 potassium ion export across plasma membrane GO:0097623 10.08 KCNQ1 KCNH2 KCNE2 KCNE1
9 positive regulation of potassium ion transmembrane transport GO:1901381 10.07 KCNQ1 KCNH2 KCNE1
10 cellular response to epinephrine stimulus GO:0071872 10.05 SLC9A1 RYR2 KCNQ1
11 regulation of membrane repolarization GO:0060306 10.04 KCNQ1 KCNH2 KCNE2
12 membrane repolarization during cardiac muscle cell action potential GO:0086013 10.03 KCNQ1 KCNH2 KCNE1
13 regulation of heart rate GO:0002027 10.02 SCN5A RYR2 KCNQ1
14 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 10.02 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
15 potassium ion transport GO:0006813 10.01 KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
16 membrane repolarization during action potential GO:0086011 10.01 KCNE1 KCNE2 KCNH2 KCNQ1
17 monoatomic ion transmembrane transport GO:0034220 10 CACNA1C KCNH2 KCNJ5 KCNQ1 SCN5A
18 membrane repolarization GO:0086009 10 KCNQ1 KCNH2 KCNE2 KCNE1
19 response to muscle stretch GO:0035994 9.99 SLC9A1 RYR2
20 sodium ion transport GO:0006814 9.99 SLC9A1 SCN5A KCNQ1
21 membrane depolarization during action potential GO:0086010 9.99 SCN5A KCNH2
22 calcium ion transport into cytosol GO:0060402 9.99 RYR2 CACNA1C
23 positive regulation of voltage-gated calcium channel activity GO:1901387 9.98 KCNE2 KCNE1
24 cellular response to acidic pH GO:0071468 9.98 SLC9A1 KCNE1
25 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.98 RYR2 CACNA1C
26 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.98 KCNQ1 KCNE2 KCNE1
27 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.97 SCN5A CACNA1C
28 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.97 CACNA1C RYR2
29 regulation of monoatomic ion transmembrane transport GO:0034765 9.97 SCN5A KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
30 atrial cardiac muscle cell action potential GO:0086014 9.96 SCN5A KCNQ1
31 regulation of cardiac muscle contraction by calcium ion signaling GO:0010882 9.96 SLC9A1 RYR2
32 monoatomic ion transport GO:0006811 9.96 SLC9A1 SCN5A RYR2 KCNQ1 KCNJ5 KCNH2
33 regulation of delayed rectifier potassium channel activity GO:1902259 9.95 KCNE2 KCNE1
34 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.95 SCN5A KCNQ1
35 positive regulation of action potential GO:0045760 9.94 SLC9A1 SCN5A
36 membrane depolarization during AV node cell action potential GO:0086045 9.94 CACNA1C SCN5A
37 membrane repolarization during atrial cardiac muscle cell action potential GO:0098914 9.93 KCNQ1 KCNJ5
38 positive regulation of the force of heart contraction GO:0098735 9.93 SLC9A1 RYR2
39 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.92 SCN5A CACNA1C
40 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.85 KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
41 cardiac conduction GO:0061337 9.84 KCNQ1 CACNA1C
42 ventricular cardiac muscle cell action potential GO:0086005 9.73 SCN5A RYR2 KCNQ1 KCNH2 KCNE2 KCNE1
43 negative regulation of voltage-gated potassium channel activity GO:1903817 9.7 KCNQ1 KCNE2 KCNE1
44 regulation of heart rate by cardiac conduction GO:0086091 9.47 SCN5A KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1

Molecular functions related to Ventricular Fibrillation, Paroxysmal Familial, 1 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 10.16 CACNA1C KCNQ1 RYR2 SCN5A SLC9A1
2 transmembrane transporter binding GO:0044325 10.02 KCNE1 KCNE2 KCNQ1 RYR2 SCN5A
3 scaffold protein binding GO:0097110 9.99 SCN5A KCNQ1 KCNH2
4 voltage-gated potassium channel activity GO:0005249 9.98 KCNQ1 KCNH2 KCNE2 KCNE1
5 inward rectifier potassium channel activity GO:0005242 9.95 KCNJ5 KCNH2 KCNE2
6 protein kinase A catalytic subunit binding GO:0034236 9.83 RYR2 KCNQ1
7 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization GO:0086089 9.8 KCNQ1 KCNJ5
8 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.8 KCNQ1 KCNH2 KCNE1
9 delayed rectifier potassium channel activity GO:0005251 9.76 KCNE1 KCNE2 KCNH2 KCNQ1
10 potassium channel activity GO:0005267 9.71 KCNQ1 KCNH2 KCNE2 KCNE1
11 monoatomic ion channel activity GO:0005216 9.65 SCN5A RYR2 KCNQ1 KCNH2 CACNA1C
12 voltage-gated monoatomic ion channel activity GO:0005244 9.56 SCN5A KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
13 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.32 KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
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Sources for Ventricular Fibrillation, Paroxysmal Familial, 1

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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