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VF1
MCID: VNT034
MIFTS: 66

Ventricular Fibrillation, Paroxysmal Familial, 1 (VF1)

Categories: Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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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 72
Ventricular Fibrillation 44 17 70
Paroxysmal Familial Ventricular Fibrillation 1 29 6
Ventricular Fibrillation, Familial, 1 57 13
Vf1 57 72
Ivf 57 72
Vf 57 72
Susceptibility to Ventricular Fibrillation During Myocardial Infarction 72
Fibrillation, Ventricular, Paroxysmal, Familial, Type 1 39
Familial Paroxysmal Ventricular Fibrillation 1 72
Ventricular Fibrillation Adverse Event 70
Fibrillation, Ventricular 39

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM® 57 603829
MeSH 44 D014693
MedGen 41 C2751898
UMLS 70 C0042510 C1962976
Sources

Summaries for Ventricular Fibrillation, Paroxysmal Familial, 1

About this section
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 20-May-2021)

MalaCards based summary : Ventricular Fibrillation, Paroxysmal Familial, 1, also known as ventricular fibrillation, is related to idiopathic ventricular fibrillation, non brugada type and ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy, 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 DAG and IP3 signaling and Cardiac conduction. The drugs Grape and Nifekalant have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and kidney, and related phenotypes are syncope and tachycardia

UniProtKB/Swiss-Prot : 72 Familial paroxysmal ventricular fibrillation 1: 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 : 73 Ventricular fibrillation (V-fib or VF) is an abnormal heart rhythm in which the ventricles of the heart... more...

Sources

Related Diseases for Ventricular Fibrillation, Paroxysmal Familial, 1

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Diseases in the Paroxysmal Ventricular Fibrillation family:

Ventricular Fibrillation, Paroxysmal Familial, 1 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 641)
# Related Disease Score Top Affiliating Genes
1 idiopathic ventricular fibrillation, non brugada type 32.3 SCN5A RYR2 CACNA1C
2 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 32.1 SCN5A RYR2 KCNQ1 KCNH2 DSP
3 wolff-parkinson-white syndrome 31.6 TNNT2 SCN5A NKX2-5 KCNQ1
4 progressive familial heart block, type ia 31.4 SCN5A DSP
5 cardiac conduction defect 31.4 SCN5A RYR2 KCNQ1 DSP CACNA1C
6 cardiac arrest 31.3 TNNT2 SCN5A RYR2 KCNQ1 KCNH2 DSP
7 right bundle branch block 31.1 SCN5A KCNH2 CACNA1C
8 hypokalemia 31.0 KCNQ1 KCNJ5 KCNH2
9 atrial standstill 1 31.0 TNNT2 SCN5A RYR2 DSP
10 syncope 30.9 TNNT2 SCN5A RYR2 KCNQ1 KCNH2
11 brugada syndrome 1 30.6 SCN5A RYR2 KCNH2
12 left bundle branch hemiblock 30.6 TNNT2 SCN5A RYR2 DSP
13 cardiac arrhythmia, ankyrin-b-related 30.6 SCN5A RYR2 KCNQ1 KCNJ5 KCNH2 KCNE2
14 brugada syndrome 30.3 TNNT2 SCN5A RYR2 NKX2-5 KCNQ1 KCNJ5
15 cardiac arrhythmia 30.2 SCN5A RYR2 KCNQ1 KCNH2 KCNE2 DSP
16 long qt syndrome 1 30.1 TNNT2 SCN5A RYR2 NKX2-5 KCNQ1 KCNJ5
17 atrial fibrillation 30.1 SCN5A RYR2 KCNQ1 KCNH2 KCNE2 KCNE1
18 arrhythmogenic right ventricular cardiomyopathy 30.1 SCN5A RYR2 KCNH2 KCNE1 DSP CACNA1C
19 familial short qt syndrome 30.1 KCNQ1 KCNH2
20 atrial heart septal defect 30.0 TNNT2 SCN5A NKX2-5
21 hypokalemic periodic paralysis, type 1 30.0 SCN5A KCNE1 CACNA1C
22 congestive heart failure 29.9 TNNT2 SCN5A RYR2 KNG1 KCNQ1 CACNA1C
23 long qt syndrome 14 29.9 SCN5A KCNQ1 KCNH2 CACNA1C
24 catecholaminergic polymorphic ventricular tachycardia 29.9 TNNT2 SCN5A RYR2 KCNQ1 KCNJ5 KCNH2
25 familial long qt syndrome 29.9 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1 DSP
26 ebstein anomaly 29.9 TNNT2 SCN5A NKX2-5
27 myocardial infarction 29.8 TNNT2 SCN5A KNG1 KCNQ1 KCNJ5
28 chromosome 2q35 duplication syndrome 29.8 KCNQ1 KCNH2 CACNA1C
29 restrictive cardiomyopathy 29.7 TNNT2 DSP CACNA1C
30 atrioventricular block 29.7 SCN5A RYR2 NKX2-5 KCNQ1 KCNH2 KCNE2
31 brugada syndrome 4 29.7 SCN5A KCNQ1 KCNH2 CACNA1C
32 tetralogy of fallot 29.6 TNNT2 SCN5A RYR2 NKX2-5 KCNH2
33 long qt syndrome 29.6 SCN5A RYR2 KCNQ1 KCNJ5 KCNH2 KCNE2
34 sudden infant death syndrome 29.6 SCN5A RYR2 KCNQ1 KCNH2 KCNE2 KCNE1
35 myocardial stunning 29.6 TNNT2 SLC9A1 KNG1 KCNJ5
36 short qt syndrome 29.6 SCN5A RYR2 KCNQ1 KCNH2 KCNE2 KCNE1
37 cardiomyopathy, familial hypertrophic, 1 29.4 TNNT2 SCN5A RYR2 NKX2-5 KCNH2 CACNA1C
38 jervell and lange-nielsen syndrome 1 29.3 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1 CACNA1C
39 long qt syndrome 3 28.9 SCN5A RYR2 KCNQ1 KCNH2 KCNE2 KCNE1
40 hypertrophic cardiomyopathy 28.9 TNNT2 SCN5A RYR2 NKX2-5 KCNQ1 KCNJ5
41 timothy syndrome 28.9 SCN5A RYR2 KCNQ1 KCNH2 KCNE2 KCNE1
42 left ventricular noncompaction 28.7 TNNT2 SCN5A RYR2 NKX2-5 KCNQ1 KCNH2
43 andersen cardiodysrhythmic periodic paralysis 28.6 SCN5A RYR2 KCNQ1 KCNJ5 KCNH2 KCNE2
44 disease of mental health 28.3 SCN5A RYR2 NGF KNG1 KCNQ1 KCNH2
45 dilated cardiomyopathy 28.0 TNNT2 SCN5A RYR2 NKX2-5 KNG1 KCNQ1
46 lipoprotein quantitative trait locus 27.9 TNNT2 SLC9A1 SCN5A RYR2 NKX2-5 KNG1
47 heart disease 27.8 TNNT2 SLC9A1 SCN5A RYR2 NKX2-5 KNG1
48 ventricular fibrillation, paroxysmal familial, 2 11.6
49 early repolarization associated with ventricular fibrillation 11.6
50 ventricular tachycardia, catecholaminergic polymorphic, 2 11.3

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:

31
# Description HPO Frequency HPO Source Accession
1 syncope 31 HP:0001279
2 tachycardia 31 HP:0001649
3 ventricular fibrillation 31 HP:0001663

Clinical features from OMIM®:

603829 (Updated 20-May-2021)

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


chest pain

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.06 CACNA1C DSP KCNH2 KCNJ5 KCNQ1 NGF
2 growth/size/body region MP:0005378 10.03 CACNA1C DSP KCNE2 KCNH2 KCNQ1 KNG1
3 homeostasis/metabolism MP:0005376 9.9 CACNA1C CHKB KCNE2 KCNH2 KCNQ1 KNG1
4 muscle MP:0005369 9.65 CACNA1C CHKB DSP KCNH2 KCNQ1 NGF
5 nervous system MP:0003631 9.32 CACNA1C CHKB DSP KCNQ1 NGF NKX2-5
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 74)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Grape Approved Phase 4
2
Nifekalant Investigational Phase 4 130636-43-0
3
Quinidine Approved, Investigational Phase 3 56-54-2 441074
4
Mexiletine Approved, Investigational Phase 3 31828-71-4 4178
5
Procainamide Approved Phase 3 51-06-9 4913
6
Imipramine Approved Phase 3 50-49-7 3696
7
Sotalol Approved Phase 3 959-24-0, 3930-20-9 5253
8
Propranolol Approved, Investigational Phase 3 525-66-6 4946
9
Propafenone Approved Phase 3 54063-53-5 4932
10
Amiodarone Approved, Investigational Phase 3 1951-25-3 2157
11 Anti-Arrhythmia Agents Phase 3
12 Cardioplegic Solutions Phase 3
13 Adrenergic Agents Phase 3
14 Cholinergic Agents Phase 3
15 Muscarinic Antagonists Phase 3
16 Cholinergic Antagonists Phase 3
17 Neurotransmitter Agents Phase 3
18 Psychotropic Drugs Phase 3
19 Anti-Infective Agents Phase 3
20 Adrenergic beta-Antagonists Phase 3
21 Adrenergic Antagonists Phase 3
22 Antiparasitic Agents Phase 3
23 Antidepressive Agents, Tricyclic Phase 3
24 Quinidine gluconate Phase 3
25 Adrenergic alpha-Antagonists Phase 3
26 Antiprotozoal Agents Phase 3
27 Antimalarials Phase 3
28 Antidepressive Agents Phase 3
29 Sympatholytics Phase 3
30 Sodium Channel Blockers Phase 3
31 Cytochrome P-450 CYP3A Inhibitors Phase 3
32 Vasodilator Agents Phase 3
33 Diuretics, Potassium Sparing Phase 3
34 Potassium Channel Blockers Phase 3
35 Cytochrome P-450 Enzyme Inhibitors Phase 3
36 Pharmaceutical Solutions Phase 3
37
Lidocaine Approved, Vet_approved Phase 2 137-58-6 3676
38
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
39
Racepinephrine Approved Phase 2 329-65-7 838
40
Metoprolol Approved, Investigational Phase 2 51384-51-1, 37350-58-6 4171
41 Omega 3 Fatty Acid Phase 2
42 Adrenergic alpha-Agonists Phase 2
43 Epinephryl borate Phase 2
44 Respiratory System Agents Phase 2
45 Adrenergic Agonists Phase 2
46 Anti-Asthmatic Agents Phase 2
47 Adrenergic beta-Agonists Phase 2
48 Mydriatics Phase 2
49 Sympathomimetics Phase 2
50 Bronchodilator Agents Phase 2

Interventional clinical trials:

(show top 50) (show all 143)
# 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 Effect of Cardiac Resynchronization Therapy (CRT) on the Defibrillation Threshold (DFT) Estimates Completed NCT00626093 Phase 4
3 ADVANCE-D: ATP Delivery for Painless ICD Therapy Completed NCT00147277 Phase 4
4 IN-TIME: Influence of Home Monitoring on the Clinical Status of Heart Failure Patients Completed NCT00538356 Phase 4
5 Remote Follow-up for ICD-Therapy in Patients Meeting MADIT II Criteria (REFORM) Completed NCT00401466 Phase 4
6 VERRARI - "Are Ventricular Arrhythmic Episodes Reduced by Rate Response in ICDs?" Completed NCT00180427 Phase 4
7 Reduction And Prevention of Tachyarrhythmias and Shocks Using Reduced Ventricular Pacing With Atrial Algorithms (The RAPTURE Study) Completed NCT00787800 Phase 4
8 ADVANCE CRT - D: ATP Delivery for Painless ICD Therapy Completed NCT00147290 Phase 4
9 CanROC Epinephrine Dose: Optimal Versus Standard Evaluation Trial (CanROC EpiDOSE Trial) Not yet recruiting NCT03826524 Phase 4 Epinephrine
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 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
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 A Pilot Randomized Controlled Trial to Compare Fixed Versus Escalating Energy Regimens for Biphasic Waveform Defibrillation Completed NCT00212992 Phase 3
14 Coronary Surgery: Comparing the Protective Effects of Two Cardioplegic Solutions: Custodiol Versus St Thomas, on Cardiac Metabolism, as Assessed Using Microdialysis Completed NCT01401140 Phase 3 St Thomas;Custodiol
15 VENTAK CHF/CONTAK CD Biventricular Pacing Study Completed NCT00387803 Phase 2, Phase 3
16 CONTAK RENEWAL 4 AVT Field Following Completed NCT00180336 Phase 2, Phase 3
17 Electrophysiologic Study Versus Electrocardiographic Monitoring (ESVEM) Completed NCT00000518 Phase 3 imipramine;mexiletine;procainamide;quinidine;sotalol
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 Public Access Defibrillation (PAD) Community Trial Completed NCT00004560 Phase 3
21 Antiarrhythmics Versus Implantable Defibrillators (AVID) Completed NCT00000531 Phase 3 amiodarone amiodarone;sotalol
22 Fatty Acid Antiarrhythmia Trial (FAAT) Completed NCT00004559 Phase 3
23 Cardiac Arrest in Seattle: Conventional Versus Amiodarone Drug Evaluation (CASCADE) Completed NCT00000464 Phase 3 amiodarone;imipramine;mexiletine;procainamide;propafenone;quinidine;sotalol
24 Prophylactic Cardiac Sympathetic Denervation for Prevention of Ventricular Tachyarrhythmias (PREVENT VT) Not yet recruiting NCT01013714 Phase 3 Routine Care
25 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 Not yet recruiting NCT03715556 Phase 3 Amiodarone;0.9% physiological solution
26 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
27 Antiarrhythmic Effects of N-3 Fatty Acids Completed NCT00004558 Phase 2
28 Advanced REperfusion STrategies for Refractory Cardiac Arrest (The ARREST Trial) Active, not recruiting NCT03880565 Phase 2
29 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
30 Treatment of Ventricular Tachyarrhythmias Refractory To Shock With Beta Blockers: The SHOCK and BLOCK Trial Terminated NCT00401882 Phase 2 Epinephrine;Metoprolol
31 Phase 1 Hospital Based Study of Sodium Nitrite in Resuscitated Cardiac Arrest Patients Completed NCT01178359 Phase 1 nitrite
32 Automatic External Defibrillation Monitoring in Cardiac Arrest Completed NCT00382928 Phase 1
33 Indicators of Coagulation Activation and Inflammation Contributing to Ventricular Fibrillation Complicating Acute Myocardial Infarction Unknown status NCT00175942
34 Post-marketing Registration Study of Nifekalant Hydrochloride (NIF) Injection Unknown status NCT03853369 Nifekalant hydrochloride
35 PREDICTion of Implantable-Cardioverter Defibrillator Shock Study Unknown status NCT01822145
36 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
37 Out-of Hospital Resuscitation Study Unknown status NCT00196248
38 Cardioverter Defibrillator Replacement With Induction of Ventricular Fibrillation and Defibrillation Testing Unknown status NCT02513030
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 Italian Registry On Multipoint Left Ventricular Unknown status NCT02606071
41 Arrhythmia Genetics in the NEtherlandS Unknown status NCT03007199
42 The Use of Amiodarone vs. Lidocaine and Placebo for the Prevention of Ventricular Fibrillation After Myocardial Reperfusion During Cardiopulmonary Bypass Completed NCT00587483 Lidocaine;Amiodarone;Placebo
43 Vest Prevention of Early Sudden Death Trial: Prevention of Sudden Death After Myocardial Infarction Using a LifeVest Wearable Cardioverter-defibrillator (Formerly VEST/PREDICTS) Completed NCT01446965
44 MAP-IDM: Identification of Molecular Markers of Sudden Death at the Acute Phase of Myocardial Infarction. A Case Control Study Completed NCT00859300
45 Study of the Wearable Defibrillator In Heart-Failure Patients Completed NCT01326624
46 Marquis/Maximo VR ICD Programming Practices Registry (MAVRIC VR ICD Registry) Completed NCT00270933
47 High Fidelity Simulation In Medecine Education Completed NCT02483546
48 Defibrillation Thresholds in a Pediatric Cohort Using Binary Search Protocol Completed NCT01043562
49 Femoral Allogenic Vein Valved Conduit for Palliative Repair of Pulmonary Atresia With Ventricular Septal Defect Completed NCT02861963
50 Dynamics and State Transitions During Resuscitation in In-hospital Cardiac Arrest Completed NCT00920244 Epinephrine;Atropine;Amiodarone

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

Inferred drug relations via UMLS 70 / NDF-RT 51 :


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)

Cochrane evidence based reviews: ventricular fibrillation

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 Paroxysmal Familial Ventricular Fibrillation 1 29 SCN5A
Sources

Anatomical Context for Ventricular Fibrillation, Paroxysmal Familial, 1

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MalaCards organs/tissues related to Ventricular Fibrillation, Paroxysmal Familial, 1:

40
Heart, Brain, Kidney, Liver, Thyroid, Endothelial, Pituitary
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 18125)
# Title Authors PMID Year
1
A novel SCN5A mutation associated with idiopathic ventricular fibrillation without typical ECG findings of Brugada syndrome. 57 6 61
10940383 2000
2
Genome-wide association study identifies a susceptibility locus at 21q21 for ventricular fibrillation in acute myocardial infarction. 61 57
20622880 2010
3
Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. 61 57
9521325 1998
4
Mode of onset of malignant ventricular arrhythmias in idiopathic ventricular fibrillation. 57 61
9363814 1997
5
Idiopathic ventricular fibrillation. 57 61
2202193 1990
6
Paroxysmal familial ventricular fibrillation. 57 61
4834245 1974
7
Therapeutic effect of {beta}-adrenoceptor blockers using a mouse model of dilated cardiomyopathy with a troponin mutation. 54 61
19477965 2009
8
Characterization of a novel Nav1.5 channel mutation, A551T, associated with Brugada syndrome. 54 61
19706159 2009
9
MinK-dependent internalization of the IKs potassium channel. 61 54
19202166 2009
10
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. 54 61
19075524 2009
11
Fever-induced QTc prolongation and ventricular arrhythmias in individuals with type 2 congenital long QT syndrome. 61 54
18551196 2008
12
Atrial fibrillation in patients with Brugada syndrome relationships of gene mutation, electrophysiology, and clinical backgrounds. 61 54
18355654 2008
13
Novel mutation in the SCN5A gene associated with arrhythmic storm development during acute myocardial infarction. 61 54
17675083 2007
14
A novel SCN5A mutation, F1344S, identified in a patient with Brugada syndrome and fever-induced ventricular fibrillation. 54 61
16616735 2006
15
Common sodium channel promoter haplotype in asian subjects underlies variability in cardiac conduction. 54 61
16415376 2006
16
Short QT syndrome. 54 61
15890322 2005
17
A novel missense mutation in the SCN5A gene associated with Brugada syndrome bidirectionally affecting blocking actions of antiarrhythmic drugs. 61 54
15877619 2005
18
Clinical and electrophysiological characteristics of Brugada syndrome caused by a missense mutation in the S5-pore site of SCN5A. 54 61
15828879 2005
19
Comparison of the effects of metoclopramide and domperidone on HERG channels. 54 61
15640612 2005
20
Further insights into the effect of quinidine in short QT syndrome caused by a mutation in HERG. 54 61
15673388 2005
21
Assessment of markers for identifying patients at risk for life-threatening arrhythmic events in Brugada syndrome. 61 54
15673386 2005
22
Two components of delayed rectifier K+ current in heart: molecular basis, functional diversity, and contribution to repolarization. 54 61
14769199 2004
23
Is timing everything? Therapeutic potential of modulators of cardiac Na(+) transporters. 61 54
12831348 2003
24
Nucleotide changes in the translated region of SCN5A from Japanese patients with Brugada syndrome and control subjects. 61 54
12639704 2003
25
SNP S1103Y in the cardiac sodium channel gene SCN5A is associated with cardiac arrhythmias and sudden death in a white family. 54 61
12471205 2002
26
Cardiotoxicity of macrolides, ketolides and fluoroquinolones that prolong the QTc interval. 54 61
12904146 2002
27
Slowed conduction and ventricular tachycardia after targeted disruption of the cardiac sodium channel gene Scn5a. 54 61
11972032 2002
28
Expression and intracellular localization of an SCN5A double mutant R1232W/T1620M implicated in Brugada syndrome. 61 54
11786529 2002
29
Novel mechanism for Brugada syndrome: defective surface localization of an SCN5A mutant (R1432G). 54 61
11420310 2001
30
Sympathetic nerve sprouting, electrical remodeling and the mechanisms of sudden cardiac death. 61 54
11334845 2001
31
Molecular biology and cellular mechanisms of Brugada and long QT syndromes in infants and young children. 61 54
11781953 2001
32
HMR 1883, a cardioselective K(ATP) channel blocker, inhibits ischaemia- and reperfusion-induced ventricular fibrillation in rats. 54 61
10543431 1999
33
MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia. 61 54
10219239 1999
34
The eag family of K+ channels in Drosophila and mammals. 54 61
10414305 1999
35
Role of kinins in the pathophysiology of myocardial ischemia. In vitro and in vivo studies. 61 54
8529801 1996
36
Usefulness of CKMB and troponin T determinations in patients with acute myocardial infarction complicated by ventricular fibrillation. 61 54
8416755 1993
37
Impact of pacing frequency in amiodarone interaction with cardiomyocytes near physiological temperature in health and disease conditions. 61
33124101 2021
38
Risk of in-hospital life-threatening ventricular arrhythmia or death after ST-elevation myocardial infarction vs. the Takotsubo syndrome. 61
33511788 2021
39
End-Tidal Carbon Dioxide Impacts Brain and Kidney Injury in Experimental Extracorporeal Cardiopulmonary Resuscitation (ECPR). 61
32826810 2021
40
Long term clinical outcomes associated with CMR quantified isolated left ventricular non-compaction in adults. 61
33309759 2021
41
Modified central extracorporeal membrane oxygenation for distended left ventricle. 61
33491196 2021
42
Arrhythmic risk during pregnancy in patients with congenital heart disease. 61
33796929 2021
43
Catheter ablation for atrial fibrillation in patients with end-stage heart failure and eligibility for heart transplantation. 61
33314690 2021
44
Cardiac arrhythmias amongst hospitalised Coronavirus 2019 (COVID-19) patients: Prevalence, characterisation, and clinical algorithm to classify arrhythmic risk. 61
33128270 2021
45
Survived COVID-19 patient presented with death on arrival: A case report. 61
33777663 2021
46
Cardiovascular severe maternal morbidity in pregnant and postpartum women: development and internal validation of risk prediction models. 61
32946639 2021
47
Catheter ablation of ventricular arrhythmias in left ventricular noncompaction cardiomyopathy. 61
33346135 2021
48
Mitochondrial dysfunction in fatal ventricular arrhythmias. 61
33555138 2021
49
Optimizing defibrillation during cardiac arrest. 61
33797430 2021
50
Successful defibrillation using double sequence defibrillation: Case reports. 61
33725873 2021
Sources

Variations for Ventricular Fibrillation, Paroxysmal Familial, 1

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

6 (show top 50) (show all 250)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DSP NM_004415.4(DSP):c.2528C>A (p.Ser843Ter) SNV Pathogenic 374137 rs1057518920 GRCh37: 6:7575619-7575619
GRCh38: 6:7575386-7575386
2 SCN5A NM_198056.2(SCN5A):c.5129C>T (p.Ser1710Leu) SNV Pathogenic 9383 rs137854604 GRCh37: 3:38592734-38592734
GRCh38: 3:38551243-38551243
3 RYR2 NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp) SNV Pathogenic 201214 rs190140598 GRCh37: 1:237608788-237608788
GRCh38: 1:237445488-237445488
4 SCN5A NM_198056.2(SCN5A):c.5872C>T (p.Arg1958Ter) SNV Pathogenic 201546 rs757532106 GRCh37: 3:38591991-38591991
GRCh38: 3:38550500-38550500
5 SCN5A NM_198056.2(SCN5A):c.1099C>T (p.Arg367Cys) SNV Pathogenic 67633 rs199473097 GRCh37: 3:38648201-38648201
GRCh38: 3:38606710-38606710
6 NKX2-5 NM_004387.4(NKX2-5):c.711C>A (p.Tyr237Ter) SNV Pathogenic 523473 rs1554093433 GRCh37: 5:172659836-172659836
GRCh38: 5:173232833-173232833
7 SCN5A NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) SNV Pathogenic 39444 rs45546039 GRCh37: 3:38655272-38655272
GRCh38: 3:38613781-38613781
8 CACNA1C NM_000719.7(CACNA1C):c.1114-316G>A SNV Likely pathogenic 155775 rs587782933 GRCh37: 12:2613692-2613692
GRCh38: 12:2504526-2504526
9 SCN5A NM_198056.2(SCN5A):c.1567C>T (p.Arg523Cys) SNV Likely pathogenic 67667 rs199473119 GRCh37: 3:38645526-38645526
GRCh38: 3:38604035-38604035
10 RYR2 NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn) SNV Likely pathogenic 36739 rs193922623 GRCh37: 1:237664074-237664074
GRCh38: 1:237500774-237500774
11 RYR2 NM_001035.3(RYR2):c.14635C>A (p.Gln4879Lys) SNV Likely pathogenic 180506 rs730880200 GRCh37: 1:237991725-237991725
GRCh38: 1:237828425-237828425
12 SCN1B NM_001037.5(SCN1B):c.448+112G>A SNV Uncertain significance 180509 rs72558026 GRCh37: 19:35524755-35524755
GRCh38: 19:35033851-35033851
13 SNTA1 NM_003098.2(SNTA1):c.589C>T (p.Arg197Trp) SNV Uncertain significance 180527 rs530603992 GRCh37: 20:32005637-32005637
GRCh38: 20:33417831-33417831
14 TRPM4 NM_017636.4(TRPM4):c.1682A>C (p.Asp561Ala) SNV Uncertain significance 180563 rs56355369 GRCh37: 19:49686408-49686408
GRCh38: 19:49183151-49183151
15 VCL NM_014000.2(VCL):c.2050A>G (p.Arg684Gly) SNV Uncertain significance 180585 rs730880249 GRCh37: 10:75863605-75863605
GRCh38: 10:74103847-74103847
16 DSP NM_004415.4(DSP):c.6812A>C (p.Lys2271Thr) SNV Uncertain significance 180339 rs730880089 GRCh37: 6:7584307-7584307
GRCh38: 6:7584074-7584074
17 JUP NM_002230.4(JUP):c.1807G>T (p.Val603Leu) SNV Uncertain significance 180376 rs200327969 GRCh37: 17:39914003-39914003
GRCh38: 17:41757751-41757751
18 KCNH2 NM_172056.2(KCNH2):c.473-7C>T SNV Uncertain significance 180387 rs146570628 GRCh37: 7:150655597-150655597
GRCh38: 7:150958509-150958509
19 PKP2 NM_004572.3(PKP2):c.1974A>G (p.Gln658=) SNV Uncertain significance 180474 rs138901574 GRCh37: 12:32974461-32974461
GRCh38: 12:32821527-32821527
20 RBM20 NM_001134363.3(RBM20):c.2565_2570del (p.Gln856_Glu857del) Deletion Uncertain significance 43992 rs397516603 GRCh37: 10:112579840-112579845
GRCh38: 10:110820082-110820087
21 RBM20 NM_001134363.3(RBM20):c.3067G>T (p.Asp1023Tyr) SNV Uncertain significance 180483 rs730880186 GRCh37: 10:112581444-112581444
GRCh38: 10:110821686-110821686
22 NSUN6 , CACNB2 NM_201596.3(CACNB2):c.1056G>A (p.Ala352=) SNV Uncertain significance 180289 rs730880058 GRCh37: 10:18823006-18823006
GRCh38: 10:18534077-18534077
23 KCNJ2 NM_000891.2(KCNJ2):c.973C>T (p.Arg325Cys) SNV Uncertain significance 190821 rs202067116 GRCh37: 17:68172153-68172153
GRCh38: 17:70176012-70176012
24 SNTA1 NM_003098.2(SNTA1):c.1210G>A (p.Ala404Thr) SNV Uncertain significance 180530 rs730880217 GRCh37: 20:31997968-31997968
GRCh38: 20:33410162-33410162
25 DSG2-AS1 , DSG2 NM_001943.5(DSG2):c.3265G>A (p.Gly1089Ser) SNV Uncertain significance 222568 rs869025389 GRCh37: 18:29126614-29126614
GRCh38: 18:31546651-31546651
26 AKAP9 NM_005751.4(AKAP9):c.5272G>C (p.Asp1758His) SNV Uncertain significance 222488 rs142603711 GRCh37: 7:91674431-91674431
GRCh38: 7:92045117-92045117
27 TTN-AS1 , TTN NM_001267550.2(TTN):c.85646C>T (p.Thr28549Ile) SNV Uncertain significance 691681 rs774609232 GRCh37: 2:179425213-179425213
GRCh38: 2:178560486-178560486
28 ACTN2 NM_001278343.2(ACTN2):c.82C>T (p.Arg28Cys) SNV Uncertain significance 180257 rs730880040 GRCh37: 1:236850055-236850055
GRCh38: 1:236686755-236686755
29 SCN5A NM_198056.2(SCN5A):c.*1932C>T SNV Uncertain significance 345065 rs886058437 GRCh37: 3:38589880-38589880
GRCh38: 3:38548389-38548389
30 SCN5A NM_198056.2(SCN5A):c.-53+12C>T SNV Uncertain significance 345130 rs886058464 GRCh37: 3:38691010-38691010
GRCh38: 3:38649519-38649519
31 SCN5A NM_198056.2(SCN5A):c.*1568G>C SNV Uncertain significance 345074 rs45503498 GRCh37: 3:38590244-38590244
GRCh38: 3:38548753-38548753
32 SCN5A NM_198056.2(SCN5A):c.5454C>T (p.Ala1818=) SNV Uncertain significance 242203 rs370114378 GRCh37: 3:38592409-38592409
GRCh38: 3:38550918-38550918
33 SCN5A NM_198056.2(SCN5A):c.*2135C>A SNV Uncertain significance 345062 rs45502793 GRCh37: 3:38589677-38589677
GRCh38: 3:38548186-38548186
34 CACNB2 NM_201596.3(CACNB2):c.334-8C>T SNV Uncertain significance 222521 rs374465425 GRCh37: 10:18787276-18787276
GRCh38: 10:18498347-18498347
35 PKP2 NM_004572.3(PKP2):c.964G>T (p.Gly322Cys) SNV Uncertain significance 201978 rs200069860 GRCh37: 12:33030850-33030850
GRCh38: 12:32877916-32877916
36 DSP NM_004415.4(DSP):c.3134G>A (p.Arg1045Gln) SNV Uncertain significance 222577 rs374263890 GRCh37: 6:7579557-7579557
GRCh38: 6:7579324-7579324
37 MYH6 NM_002471.3(MYH6):c.2612G>A (p.Arg871His) SNV Uncertain significance 222715 rs869025473 GRCh37: 14:23863350-23863350
GRCh38: 14:23394141-23394141
38 JUP NM_002230.4(JUP):c.2069A>G (p.Asn690Ser) SNV Uncertain significance 163710 rs147628503 GRCh37: 17:39912444-39912444
GRCh38: 17:41756192-41756192
39 AKAP9 NM_005751.4(AKAP9):c.4825_4826delinsCA (p.Arg1609Gln) Indel Uncertain significance 190484 rs786205707 GRCh37: 7:91670120-91670121
GRCh38: 7:92040806-92040807
40 SCN5A NM_198056.2(SCN5A):c.3542T>C (p.Val1181Ala) SNV Uncertain significance 242196 rs376965389 GRCh37: 3:38616912-38616912
GRCh38: 3:38575421-38575421
41 SCN5A NM_198056.2(SCN5A):c.*382T>C SNV Uncertain significance 345101 rs45459402 GRCh37: 3:38591430-38591430
GRCh38: 3:38549939-38549939
42 LOC110121269 , SCN5A NM_198056.2(SCN5A):c.2956C>T (p.Arg986Trp) SNV Uncertain significance 201485 rs561547165 GRCh37: 3:38622694-38622694
GRCh38: 3:38581203-38581203
43 SCN5A NM_198056.2(SCN5A):c.5971C>T (p.Arg1991Trp) SNV Uncertain significance 345112 rs371308670 GRCh37: 3:38591892-38591892
GRCh38: 3:38550401-38550401
44 SCN5A NM_198056.2(SCN5A):c.4827G>A (p.Ser1609=) SNV Uncertain significance 345115 rs886058460 GRCh37: 3:38593036-38593036
GRCh38: 3:38551545-38551545
45 SCN5A NM_198056.2(SCN5A):c.4671C>T (p.Ile1557=) SNV Uncertain significance 345116 rs886058461 GRCh37: 3:38595912-38595912
GRCh38: 3:38554421-38554421
46 SCN5A NM_198056.2(SCN5A):c.-70C>T SNV Uncertain significance 345131 rs886058465 GRCh37: 3:38691039-38691039
GRCh38: 3:38649548-38649548
47 SCN5A NM_000335.5(SCN5A):c.4821C>T (p.Leu1607=) SNV Uncertain significance 165135 rs45437099 GRCh37: 3:38593039-38593039
GRCh38: 3:38551548-38551548
48 SCN5A NM_198056.2(SCN5A):c.*331T>C SNV Uncertain significance 345102 rs551399685 GRCh37: 3:38591481-38591481
GRCh38: 3:38549990-38549990
49 SCN5A NM_198056.2(SCN5A):c.*160G>A SNV Uncertain significance 345106 rs772585696 GRCh37: 3:38591652-38591652
GRCh38: 3:38550161-38550161
50 SCN5A NM_198056.2(SCN5A):c.3463C>T (p.Pro1155Ser) SNV Uncertain significance 345117 rs781103369 GRCh37: 3:38618200-38618200
GRCh38: 3:38576709-38576709

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

72
# 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:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
DAG and IP3 signaling 65
Show member pathways
 12.8 TNNT2 SLC9A1 RYR2 NGF CACNA1C
2
Cardiac conduction 65
Show member pathways
 12.34 TNNT2 SCN5A RYR2 NKX2-5 KCNQ1 KCNH2
3
cGMP-PKG signaling pathway 36
Show member pathways
 12.26 TNNT2 SLC9A1 SCN5A RYR2 KNG1 KCNQ1
4
Salivary secretion 36
Show member pathways
 12.19 SLC9A1 RYR2 KCNQ1 KCNE2
5
Dopamine-DARPP32 Feedback onto cAMP Pathway 63
12.16 KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1 CACNA1C
6
Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways 1
11.98 SCN5A RYR2 NGF KCNQ1 KCNH2
7
Arrhythmogenic right ventricular cardiomyopathy 36 1
11.88 RYR2 DSP CACNA1C
8
Potassium Channels 65
Show member pathways
 11.86 KCNQ1 KCNJ5 KCNH2
9
Cardiac muscle contraction 36
11.64 TNNT2 SLC9A1 RYR2 CACNA1C
10
Phase 0 - rapid depolarisation 65
Show member pathways
 11.53 SCN5A KCNQ1 KCNE2 KCNE1 CACNA1C
11
Cardiac Progenitor Differentiation 1
11.33 TNNT2 SCN5A NKX2-5
12
Antiarrhythmic Pathway, Pharmacodynamics 60
11.02 SCN5A RYR2 KCNQ1 KCNJ5 KCNH2 KCNE2
13
TarBasePathway 1
10.76 KCNQ1 KCNE1
Sources

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 plasma membrane GO:0005886 10.11 SLC9A1 SCN5A RYR2 KNG1 KCNQ1 KCNJ5
2 cell surface GO:0009986 9.8 SLC9A1 SCN5A KCNH2 KCNE2 KCNE1
3 Z disc GO:0030018 9.56 SCN5A RYR2 KCNE1 CACNA1C
4 intercalated disc GO:0014704 9.5 SLC9A1 SCN5A DSP
5 sarcolemma GO:0042383 9.46 SLC9A1 SCN5A RYR2 CACNA1C
6 T-tubule GO:0030315 9.26 SLC9A1 SCN5A KCNJ5 CACNA1C
7 voltage-gated potassium channel complex GO:0008076 9.02 KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1

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

(show all 45)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10.11 SLC9A1 SCN5A RYR2 KCNQ1 KCNJ5 KCNH2
2 transmembrane transport GO:0055085 10.08 SLC9A1 SCN5A RYR2 KCNQ1 KCNH2 CACNA1C
3 ion transmembrane transport GO:0034220 9.97 SCN5A RYR2 KCNJ5 KCNH2
4 potassium ion transmembrane transport GO:0071805 9.97 SLC9A1 KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
5 regulation of ion transmembrane transport GO:0034765 9.95 SCN5A KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
6 potassium ion transport GO:0006813 9.93 KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
7 cellular response to drug GO:0035690 9.83 KCNQ1 KCNH2 KCNE2
8 cardiac muscle cell action potential involved in contraction GO:0086002 9.83 SCN5A KCNE2 KCNE1 CACNA1C
9 potassium ion export across plasma membrane GO:0097623 9.81 KCNQ1 KCNH2 KCNE2 KCNE1
10 cardiac conduction GO:0061337 9.8 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1 CACNA1C
11 potassium ion import across plasma membrane GO:1990573 9.79 KCNJ5 KCNH2 KCNE2
12 membrane repolarization GO:0086009 9.78 KCNQ1 KCNH2 KCNE2 KCNE1
13 regulation of potassium ion transmembrane transport GO:1901379 9.77 KCNH2 KCNE2 KCNE1
14 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.77 KCNQ1 KCNE2 KCNE1
15 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.77 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
16 positive regulation of potassium ion transmembrane transport GO:1901381 9.76 KCNQ1 KCNH2 KCNE1
17 cellular response to epinephrine stimulus GO:0071872 9.75 SLC9A1 RYR2 KCNQ1
18 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.74 RYR2 DSP CACNA1C
19 regulation of membrane repolarization GO:0060306 9.73 KCNQ1 KCNH2 KCNE2
20 membrane repolarization during action potential GO:0086011 9.73 KCNQ1 KCNH2 KCNE2 KCNE1
21 cardiac muscle contraction GO:0060048 9.73 TNNT2 SCN5A RYR2 NKX2-5 KCNQ1 KCNH2
22 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.72 KCNQ1 KCNH2 KCNE1
23 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.7 RYR2 CACNA1C
24 regulation of cardiac muscle contraction GO:0055117 9.69 RYR2 NKX2-5
25 positive regulation of heart rate GO:0010460 9.69 RYR2 KCNQ1
26 cardiac muscle cell differentiation GO:0055007 9.69 SLC9A1 NKX2-5
27 response to muscle stretch GO:0035994 9.68 SLC9A1 RYR2
28 membrane depolarization during action potential GO:0086010 9.68 SCN5A KCNH2
29 positive regulation of sodium ion transport GO:0010765 9.68 SCN5A NKX2-5
30 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.68 RYR2 CACNA1C
31 calcium ion transport into cytosol GO:0060402 9.67 RYR2 CACNA1C
32 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.67 SCN5A CACNA1C
33 atrial cardiac muscle cell action potential GO:0086014 9.66 SCN5A KCNQ1
34 regulation of cardiac muscle contraction by calcium ion signaling GO:0010882 9.66 SLC9A1 RYR2
35 regulation of delayed rectifier potassium channel activity GO:1902259 9.65 KCNE2 KCNE1
36 negative regulation of voltage-gated potassium channel activity GO:1903817 9.65 KCNQ1 KCNE2
37 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.64 SCN5A KCNQ1
38 membrane repolarization during atrial cardiac muscle cell action potential GO:0098914 9.64 KCNQ1 KCNJ5
39 positive regulation of the force of heart contraction GO:0098735 9.63 SLC9A1 RYR2
40 membrane depolarization during AV node cell action potential GO:0086045 9.63 SCN5A CACNA1C
41 positive regulation of action potential GO:0045760 9.62 SLC9A1 SCN5A
42 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.61 SCN5A CACNA1C
43 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.55 KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
44 ventricular cardiac muscle cell action potential GO:0086005 9.43 SCN5A RYR2 KCNQ1 KCNH2 KCNE2 KCNE1
45 regulation of heart rate by cardiac conduction GO:0086091 9.23 SCN5A KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.85 SLC9A1 SCN5A RYR2 KCNQ1 CACNA1C
2 ion channel activity GO:0005216 9.83 SCN5A RYR2 KCNQ1 KCNH2 CACNA1C
3 potassium channel activity GO:0005267 9.78 KCNQ1 KCNH2 KCNE2 KCNE1
4 ion channel binding GO:0044325 9.72 SCN5A RYR2 KCNQ1 KCNE2 KCNE1
5 voltage-gated potassium channel activity GO:0005249 9.71 KCNQ1 KCNH2 KCNE2 KCNE1
6 inward rectifier potassium channel activity GO:0005242 9.67 KCNJ5 KCNH2 KCNE2
7 scaffold protein binding GO:0097110 9.67 SCN5A KCNQ1 KCNH2 DSP
8 protein kinase A regulatory subunit binding GO:0034237 9.54 RYR2 KCNQ1
9 protein kinase A catalytic subunit binding GO:0034236 9.52 RYR2 KCNQ1
10 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization GO:0086089 9.51 KCNQ1 KCNJ5
11 voltage-gated ion channel activity GO:0005244 9.5 SCN5A KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
12 delayed rectifier potassium channel activity GO:0005251 9.46 KCNQ1 KCNH2 KCNE2 KCNE1
13 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.43 KCNQ1 KCNH2 KCNE1
14 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.02 KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
Sources

Sources for Ventricular Fibrillation, Paroxysmal Familial, 1

About this section
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
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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