VF1
MCID: VNT034
MIFTS: 67

Ventricular Fibrillation, Paroxysmal Familial, 1 (VF1)

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Ventricular Fibrillation, Paroxysmal Familial, 1

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

Name: Ventricular Fibrillation, Paroxysmal Familial, 1 57 74
Ventricular Fibrillation 44 17 72
Paroxysmal Familial Ventricular Fibrillation 1 29 6
Ventricular Fibrillation, Familial, 1 57 13
Vf1 57 74
Ivf 57 74
Vf 57 74
Susceptibility to Ventricular Fibrillation During Myocardial Infarction 74
Fibrillation, Ventricular, Paroxysmal, Familial, Type 1 40
Familial Paroxysmal Ventricular Fibrillation 1 74
Ventricular Fibrillation Adverse Event 72
Fibrillation, Ventricular 40

Classifications:



External Ids:

OMIM 57 603829
MeSH 44 D014693
MedGen 42 C2751898
UMLS 72 C0042510 C1962976

Summaries for Ventricular Fibrillation, Paroxysmal Familial, 1

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)

MalaCards based summary : Ventricular Fibrillation, Paroxysmal Familial, 1, also known as ventricular fibrillation, is related to ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy and catecholaminergic polymorphic ventricular tachycardia, 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 Aldosterone synthesis and secretion. The drugs Atorvastatin and Metoprolol have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and brain, and related phenotypes are syncope and tachycardia

UniProtKB/Swiss-Prot : 74 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 : 75 Ventricular fibrillation (V-fib or VF) is when the heart quivers instead of pumping due to disorganized... more...

Related Diseases for Ventricular Fibrillation, Paroxysmal Familial, 1

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 593)
# Related Disease Score Top Affiliating Genes
1 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 33.1 SCN5A RYR2 KCNQ1 KCNH2 DSP
2 catecholaminergic polymorphic ventricular tachycardia 32.5 SCN5A RYR2 KCNH2 DSP
3 atrial standstill 1 31.1 TNNT2 SCN5A DSP
4 right bundle branch block 30.8 SCN5A CACNA1C
5 arrhythmogenic right ventricular cardiomyopathy 30.7 SCN5A RYR2 KCNH2 DSP
6 brugada syndrome 1 30.7 SCN5A KCNH2
7 long qt syndrome 1 30.5 SCN5A RYR2 KCNQ1 KCNJ5 KCNH2 KCNE2
8 syncope 30.3 SCN5A KCNQ1 KCNH2
9 hypertrophic cardiomyopathy 30.3 TNNT2 SCN5A RYR2 DSP CACNA1C
10 familial short qt syndrome 30.2 KCNQ1 KCNH2
11 sudden infant death syndrome 30.2 SCN5A RYR2 KCNQ1 KCNH2
12 cardiac conduction defect 30.2 SCN5A RYR2 KCNQ1 KCNH2 DSP
13 cardiac arrest 30.2 TNNT2 SCN5A RYR2 KCNQ1 KCNH2 DSP
14 myocardial stunning 29.9 SLC9A1 KCNJ5
15 atrial fibrillation 29.6 SCN5A RYR2 KCNQ1 KCNH2 KCNE2 KCNE1
16 atrioventricular block 29.6 SCN5A NKX2-5 KCNQ1 KCNH2 KCNE2 KCNE1
17 short qt syndrome 29.6 KCNQ1 KCNH2 KCNE2 KCNE1 CACNA1C
18 brugada syndrome 29.3 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1 CACNA1C
19 timothy syndrome 29.3 KCNQ1 KCNH2 KCNE1 CACNA1C
20 left ventricular noncompaction 29.1 TNNT2 SCN5A RYR2 NKX2-5 KCNQ1 DSP
21 long qt syndrome 29.0 SCN5A RYR2 KCNQ1 KCNJ5 KCNH2 KCNE2
22 long qt syndrome 3 28.9 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
23 jervell and lange-nielsen syndrome 1 28.8 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1 CACNA1C
24 cardiac arrhythmia 28.6 SCN5A RYR2 KCNQ1 KCNH2 KCNE2 KCNE1
25 heart disease 28.6 TNNT2 SCN5A RYR2 NKX2-5 KCNQ1 KCNH2
26 dilated cardiomyopathy 28.5 TNNT2 SCN5A RYR2 NKX2-5 KCNQ1 KCNH2
27 andersen cardiodysrhythmic periodic paralysis 28.1 SCN5A RYR2 KCNQ1 KCNJ5 KCNH2 KCNE2
28 ventricular fibrillation, paroxysmal familial, 2 12.8
29 early repolarization associated with ventricular fibrillation 12.8
30 idiopathic ventricular fibrillation, non brugada type 12.6
31 premature ovarian failure 1 11.7
32 cardiac arrhythmia, ankyrin-b-related 11.7
33 polycystic ovary syndrome 11.7
34 wolff-parkinson-white syndrome 11.6
35 ventricular tachycardia, familial 11.6
36 ventricular tachycardia, catecholaminergic polymorphic, 2 11.5
37 ventricular tachycardia, catecholaminergic polymorphic, 4 11.5
38 paroxysmal ventricular fibrillation 11.3
39 cardiomyopathy, infantile histiocytoid 11.2
40 infertility 11.0
41 ovarian hyperstimulation syndrome 10.9
42 myocardial infarction 10.8
43 endometriosis 10.8
44 ischemia 10.7
45 ectopic pregnancy 10.7
46 progressive familial heart block, type ia 10.7
47 male infertility 10.6
48 hypokalemia 10.6
49 progressive familial heart block, type ib 10.5
50 familial progressive cardiac conduction defect 10.5 SCN5A NKX2-5

Comorbidity relations with Ventricular Fibrillation, Paroxysmal Familial, 1 via Phenotypic Disease Network (PDN): (show all 19)


Acute Cystitis Acute Kidney Failure
Aortic Valve Disease 1 Cardiac Arrest
Cardiogenic Shock 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

Symptoms & Phenotypes for Ventricular Fibrillation, Paroxysmal Familial, 1

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

32
# Description HPO Frequency HPO Source Accession
1 syncope 32 HP:0001279
2 tachycardia 32 HP:0001649
3 ventricular fibrillation 32 HP:0001663

Clinical features from OMIM:

603829

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 10.11 CACNA1C DSP KCNH2 KCNJ5 KCNQ1 NGF
2 growth/size/body region MP:0005378 10 DSP KCNE2 KCNH2 KCNQ1 KNG1 NGF
3 embryo MP:0005380 9.87 CACNA1C DSP KCNH2 NKX2-5 RYR2 SCN5A
4 homeostasis/metabolism MP:0005376 9.85 CACNA1C CHKB KCNE2 KCNH2 KCNQ1 NGF
5 muscle MP:0005369 9.65 CACNA1C CHKB DSP KCNH2 KCNQ1 NGF
6 nervous system MP:0003631 9.32 CACNA1C CHKB DSP KCNQ1 NGF NKX2-5

Drugs & Therapeutics for Ventricular Fibrillation, Paroxysmal Familial, 1

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

(show top 50) (show all 237)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Atorvastatin Approved Phase 4 134523-00-5 60823
2
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
3
Clopidogrel Approved Phase 4 113665-84-2, 120202-66-6 60606
4
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
5
Metolazone Approved Phase 4 17560-51-9 4170
6
Chlorothiazide Approved, Vet_approved Phase 4 58-94-6 2720
7
Tolvaptan Approved Phase 4 150683-30-0 216237
8
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
9
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
10
Prilocaine Approved Phase 4 721-50-6 4906
11 Grape Approved Phase 4
12
Ticagrelor Approved Phase 4 274693-27-5 9871419
13
Cangrelor Approved Phase 4 163706-06-7 9854012
14
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
15
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
16
Empagliflozin Approved Phase 4 864070-44-0
17
Bisoprolol Approved Phase 4 66722-44-9 2405
18 Kava Approved, Investigational, Nutraceutical Phase 4 9000-38-8
19 Simendan Investigational Phase 4 131741-08-7
20 Lipid Regulating Agents Phase 4
21 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
22 Hypolipidemic Agents Phase 4
23 Anticholesteremic Agents Phase 4
24 diuretics Phase 4
25 Hormones Phase 4
26 Coagulants Phase 4
27 Natriuretic Agents Phase 4
28 Hemostatics Phase 4
29 Arginine Vasopressin Phase 4
30 Vasopressins Phase 4
31 Sodium Chloride Symporter Inhibitors Phase 4
32 Antidiuretic Hormone Receptor Antagonists Phase 4
33 Sodium Potassium Chloride Symporter Inhibitors Phase 4
34 Anesthetics, Local Phase 4
35 Nifekalant Phase 4
36 Cyclooxygenase Inhibitors Phase 4
37 Anti-Inflammatory Agents, Non-Steroidal Phase 4
38 Ketorolac Tromethamine Phase 4
39 Anti-Inflammatory Agents Phase 4
40 Antirheumatic Agents Phase 4
41 Purinergic P2Y Receptor Antagonists Phase 4
42 Purinergic P2 Receptor Antagonists Phase 4
43 Prasugrel hydrochloride Phase 4 389574-19-0
44 Analgesics, Non-Narcotic Phase 4
45 Psychotropic Drugs Phase 4
46 Adrenergic alpha-2 Receptor Agonists Phase 4
47 Hypnotics and Sedatives Phase 4
48 Adjuvants, Anesthesia Phase 4
49 Tranquilizing Agents Phase 4
50 Anti-Anxiety Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 283)
# Name Status NCT ID Phase Drugs
1 Medical ANtiarrhythmic Treatment or Radiofrequency Ablation in Ischemic Ventricular Tachyarrhythmias. A Prospective, Randomized Multicentre Study. Unknown status NCT02303639 Phase 4 Antiarrhythmic drug therapy
2 "Test-No Test" Implantable Cardioverter Defibrillator Pilot Study (TNT-ICD) Unknown status NCT01905007 Phase 4
3 Atrial Fibrillation Ablation Compared to Rate Control Strategy in Patients With Recently Diagnosed Impaired Left Ventricular Function: a Multicenter, Randomized Controlled Trial Unknown status NCT02509754 Phase 4
4 Cholesterol Lowering and Arrhythmia Recurrences After Internal Defibrillator Implantation (CLARIDI) Completed NCT00457340 Phase 4 Atorvastatin 80mg
5 Efficacy of Different Perioperative Statin Regimens on the Protection Against Post Coronary Artery Bypass Grafting Major Adverse Cardio-cerebral Events Completed NCT02706860 Phase 4 Atorvastatin
6 Transthoracic Incremental Monophasic Versus Biphasic by Emergency Responders (TIMBER) Completed NCT00101881 Phase 4
7 Arrhythmia Single Shock DFT Versus ULV: Risk Reduction Evaluation With ICDs Study Completed NCT00231426 Phase 4
8 ADVANCE-D: ATP Delivery for Painless ICD Therapy Completed NCT00147277 Phase 4
9 VERRARI - "Are Ventricular Arrhythmic Episodes Reduced by Rate Response in ICDs?" Completed NCT00180427 Phase 4
10 hs Troponin Release in Relation to Different ICD-Implantation Procedures Completed NCT01230086 Phase 4
11 Pilot Randomized Clinical Trial Comparing the Efficacy of Two Different Hypothermia Temperatures for Treatment of Comatose Patients Recovered From an Out-of-hospital Cardiac Arrest Completed NCT01155622 Phase 4
12 Clinical Interest of Endovascular Cooling in the Management of Cardiac Arrest: Impact on Mortality in a Randomized Medico-economical Trial (the ICEREA Study) Completed NCT00392639 Phase 4
13 ADVANCE CRT - D: ATP Delivery for Painless ICD Therapy Completed NCT00147290 Phase 4
14 Remote Follow-up for ICD-Therapy in Patients Meeting MADIT II Criteria (REFORM) Completed NCT00401466 Phase 4
15 IN-TIME: Influence of Home Monitoring on the Clinical Status of Heart Failure Patients Completed NCT00538356 Phase 4
16 Clopidogrel Or Metoprolol in Myocardial Infarction Trial Completed NCT00222573 Phase 4 clopidogrel and metoprolol
17 A Randomised Trial on Early Stress Nuclear Scan for Patients Presented to the Emergency Department (ED) With Chest Pain But Non-diagnostic Electrocardiography-Acute Chest Pain Treatment and Evaluation (ACTION) Study Completed NCT00434564 Phase 4
18 Reduction And Prevention of Tachyarrhythmias and Shocks Using Reduced Ventricular Pacing With Atrial Algorithms (The RAPTURE Study) Completed NCT00787800 Phase 4
19 Monitoring of Fluid Status in Heart Failure Patients by Intrathoracic Impedance Measurement in Japan Completed NCT01221649 Phase 4
20 Effect of Cardiac Resynchronization Therapy (CRT) on the Defibrillation Threshold (DFT) Estimates Completed NCT00626093 Phase 4
21 Fast VT Episodes Are Terminated by ATP One Shot Completed NCT00617578 Phase 4
22 Monitoring of Fluid Status in Heart Failure Patients by Intrathoracic Impedance Measurement Completed NCT00711360 Phase 4
23 Levosimendan Efficacy Assessment by Cardiopulmonary Exercise Test (CPET) Completed NCT02261948 Phase 4 Levosimendan;Placebo
24 Survival of Patients With Primary Prophylactic ICD Indication, Provided With Intensified Care After 1st ICD Therapy Completed NCT00619593 Phase 4
25 Comparison of Oral Thiazides vs Intravenous Thiazides vs Tolvaptan in Combination With Loop Diuretics for Diuretic Resistant Decompensated Heart Failure Completed NCT02606253 Phase 4 tolvaptan;Chlorothiazide;Metolazone
26 Lidocaine Versus Ketorolac for the Management of Renal Colic Recruiting NCT03137498 Phase 4 Lidocaine;Ketorolac
27 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. Recruiting NCT03855826 Phase 4 Nifekalant hydrochloride;Amiodarone
28 Pharmacokinetic/Pharmacodynamic Effects of add-on Antiplatelet Therapy With Parenteral Cangrelor as Compared to Standard Dual Antiplatelet Treatment in Patients With ST-elevation Myocardial Infarction Complicated by Out-of-hospital Cardiac Arrest and Treated With Targeted Temperature Management Recruiting NCT03273075 Phase 4 Cangrelor;Placebo;Prasugrel;Ticagrelor
29 RANDOMİZED,DOUBLE-BLİND TRİAL OF EFFECT OF DEXMEDETOMİDİNE AND MİDAZOLAM SEDATİON ON HEART RATE VARİABİLİTY AFTER CORONARY ARTERY BYPASS GRAFT SURGERY Active, not recruiting NCT03601091 Phase 4 Precedex 200 MCG in 2 ML Injection;DORMICUM 5MG/5 ML
30 CanROC Epinephrine Dose: Optimal Versus Standard Evaluation Trial (CanROC EpiDOSE Trial) Not yet recruiting NCT03826524 Phase 4 Epinephrine
31 The Effect of Empagliflozin Versus Placebo on the Rate of Arrhythmic Events in Heart Failure Patients Not yet recruiting NCT03271879 Phase 4 Empagliflozin at a dose of 10 mg/day
32 Effect of Heart Rate Control Using Ivabradine and Beta-blockers Combination Versus Beta-blockers Up-titration on Ventricular Pacing in Heart Failure Patients With an Implanted Cardioverter Defibrillator. Suspended NCT01868880 Phase 4 Ivabradine plus beta-blocker (bisoprolol);betablocker titration
33 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
34 SNPeCPR Pour la prIse en Charge Des Arrêts CaRdiaques Extrahospitaliers Unknown status NCT02225561 Phase 3
35 Prevention of Coronary Artery in STENT Restenosis With the Combined Use of Pioglitazone and Sirolimus-Eluting Coronary Stent Unknown status NCT00376870 Phase 3 Pioglitazone;Placebo
36 CONTAK RENEWAL 4 AVT Field Following Completed NCT00180336 Phase 2, Phase 3
37 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
38 Cardiac Arrest in Seattle: Conventional Versus Amiodarone Drug Evaluation (CASCADE) Completed NCT00000464 Phase 3 amiodarone;imipramine;mexiletine;procainamide;propafenone;quinidine;sotalol
39 Impact of Hyperoxia During Cardiopulmonary Bypass in the Occurrence of Cardiovascular Complications After Cardiac Surgery Completed NCT02819739 Phase 3 medical oxygen
40 Electrophysiologic Study Versus Electrocardiographic Monitoring (ESVEM) Completed NCT00000518 Phase 3 imipramine;mexiletine;procainamide;quinidine;sotalol
41 VENTAK CHF/CONTAK CD Biventricular Pacing Study Completed NCT00387803 Phase 2, Phase 3
42 Fatty Acid Antiarrhythmia Trial (FAAT) Completed NCT00004559 Phase 3
43 A Pilot Randomized Controlled Trial to Compare Fixed Versus Escalating Energy Regimens for Biphasic Waveform Defibrillation Completed NCT00212992 Phase 3
44 Antiarrhythmics Versus Implantable Defibrillators (AVID) Completed NCT00000531 Phase 3 amiodarone amiodarone;sotalol
45 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
46 Randomized Controlled Pilot Study: Induction of Mild Hypothermia in Resuscitated Cardiac Arrest Patients Using Traditional Surface Cooling Techniques vs. the Medivance® Arctic Sun® System Completed NCT00282373 Phase 2, Phase 3
47 Evaluation of SC-V Versus Conventional CPR Completed NCT00000502 Phase 3
48 Evaluation of the Interests of a Therapeutic Hypothermia Procedure in Convulsive Status EPILEPTICUS in Adults in Intensive Care - HYBERNATUS Study Completed NCT01359332 Phase 3
49 Late Sodium Current Blockade in High-Risk ICD Patients Completed NCT01215253 Phase 3 Ranolazine
50 Automated External Defibrillator (AED) Use in Out-of-Hospital Cardiac Arrest: A New Algorithm Named "One Shock Per Minute" Completed NCT00139542 Phase 3

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

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Acebutolol
Acebutolol Hydrochloride
Amiodarone
Amiodarone
Amiodarone hydrochloride
Atenolol
bretylium
Bretylium
Bretylium Tosylate
Edetic Acid, Disodium Salt
Epinephrine
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

Genetic Tests for Ventricular Fibrillation, Paroxysmal Familial, 1

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

# Genetic test Affiliating Genes
1 Paroxysmal Familial Ventricular Fibrillation 1 29 SCN5A

Anatomical Context for Ventricular Fibrillation, Paroxysmal Familial, 1

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

41
Heart, Testes, Brain, Lung, Liver, Bone, Thyroid

Publications for Ventricular Fibrillation, Paroxysmal Familial, 1

Articles related to Ventricular Fibrillation, Paroxysmal Familial, 1:

(show top 50) (show all 17284)
# Title Authors PMID Year
1
A novel SCN5A mutation associated with idiopathic ventricular fibrillation without typical ECG findings of Brugada syndrome. 38 8 71
10940383 2000
2
Genome-wide association study identifies a susceptibility locus at 21q21 for ventricular fibrillation in acute myocardial infarction. 38 8
20622880 2010
3
Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. 38 8
9521325 1998
4
Mode of onset of malignant ventricular arrhythmias in idiopathic ventricular fibrillation. 38 8
9363814 1997
5
Idiopathic ventricular fibrillation. 38 8
2202193 1990
6
Paroxysmal familial ventricular fibrillation. 38 8
4834245 1974
7
Therapeutic effect of {beta}-adrenoceptor blockers using a mouse model of dilated cardiomyopathy with a troponin mutation. 9 38
19477965 2009
8
Characterization of a novel Nav1.5 channel mutation, A551T, associated with Brugada syndrome. 9 38
19706159 2009
9
MinK-dependent internalization of the IKs potassium channel. 9 38
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. 9 38
19075524 2009
11
Fever-induced QTc prolongation and ventricular arrhythmias in individuals with type 2 congenital long QT syndrome. 9 38
18551196 2008
12
Atrial fibrillation in patients with Brugada syndrome relationships of gene mutation, electrophysiology, and clinical backgrounds. 9 38
18355654 2008
13
Novel mutation in the SCN5A gene associated with arrhythmic storm development during acute myocardial infarction. 9 38
17675083 2007
14
A novel SCN5A mutation, F1344S, identified in a patient with Brugada syndrome and fever-induced ventricular fibrillation. 9 38
16616735 2006
15
Common sodium channel promoter haplotype in asian subjects underlies variability in cardiac conduction. 9 38
16415376 2006
16
Short QT syndrome. 9 38
15890322 2005
17
A novel missense mutation in the SCN5A gene associated with Brugada syndrome bidirectionally affecting blocking actions of antiarrhythmic drugs. 9 38
15877619 2005
18
Comparison of the effects of metoclopramide and domperidone on HERG channels. 9 38
15640612 2005
19
Clinical and electrophysiological characteristics of Brugada syndrome caused by a missense mutation in the S5-pore site of SCN5A. 9 38
15828879 2005
20
Assessment of markers for identifying patients at risk for life-threatening arrhythmic events in Brugada syndrome. 9 38
15673386 2005
21
Further insights into the effect of quinidine in short QT syndrome caused by a mutation in HERG. 9 38
15673388 2005
22
Two components of delayed rectifier K+ current in heart: molecular basis, functional diversity, and contribution to repolarization. 9 38
14769199 2004
23
Is timing everything? Therapeutic potential of modulators of cardiac Na(+) transporters. 9 38
12831348 2003
24
Nucleotide changes in the translated region of SCN5A from Japanese patients with Brugada syndrome and control subjects. 9 38
12639704 2003
25
SNP S1103Y in the cardiac sodium channel gene SCN5A is associated with cardiac arrhythmias and sudden death in a white family. 9 38
12471205 2002
26
Cardiotoxicity of macrolides, ketolides and fluoroquinolones that prolong the QTc interval. 9 38
12904146 2002
27
Slowed conduction and ventricular tachycardia after targeted disruption of the cardiac sodium channel gene Scn5a. 9 38
11972032 2002
28
Expression and intracellular localization of an SCN5A double mutant R1232W/T1620M implicated in Brugada syndrome. 9 38
11786529 2002
29
Novel mechanism for Brugada syndrome: defective surface localization of an SCN5A mutant (R1432G). 9 38
11420310 2001
30
Sympathetic nerve sprouting, electrical remodeling and the mechanisms of sudden cardiac death. 9 38
11334845 2001
31
Molecular biology and cellular mechanisms of Brugada and long QT syndromes in infants and young children. 9 38
11781953 2001
32
HMR 1883, a cardioselective K(ATP) channel blocker, inhibits ischaemia- and reperfusion-induced ventricular fibrillation in rats. 9 38
10543431 1999
33
MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia. 9 38
10219239 1999
34
The eag family of K+ channels in Drosophila and mammals. 9 38
10414305 1999
35
Role of kinins in the pathophysiology of myocardial ischemia. In vitro and in vivo studies. 9 38
8529801 1996
36
Usefulness of CKMB and troponin T determinations in patients with acute myocardial infarction complicated by ventricular fibrillation. 9 38
8416755 1993
37
Clinical Differences in Japanese Patients Between Brugada Syndrome and Arrhythmogenic Right Ventricular Cardiomyopathy With Long-Term Follow-Up. 38
31284935 2019
38
Evaluation of recurrent ventricular tachyarrhythmias in patients who survived out-of-hospital cardiac arrest due to ventricular fibrillation: eligibility for subcutaneous implantable defibrillator therapy. 38
30478809 2019
39
Optical Mapping. 38
31400874 2019
40
In vivo ratiometric optical mapping enables high-resolution cardiac electrophysiology in pig models. 38
30753358 2019
41
The Effects of the Duration of Aortic Balloon Occlusion on Outcomes of Traumatic Cardiac Arrest in a Porcine Model. 38
30052583 2019
42
Myocardial Electrical Remodeling and the Arrhythmogenic Substrate in Hemorrhagic Shock-Induced Heart: Anti-Arrhythmogenic Effect of Liposome-Encapsulated Hemoglobin (HbV) on the Myocardium. 38
30239419 2019
43
Effectiveness of the Dual Dispatch to Cardiac Arrest Policy in Houston, Texas. 38
31348172 2019
44
Implications of Initial Recorded Rhythm on Cardioverter-Defibrillator Insertion and Subsequent All-Cause Mortality in Sudden Cardiac Arrest Survivors. 38
31279406 2019
45
Cardiovascular safety of macrolide and fluoroquinolone antibiotics: An analysis of the WHO database of adverse drug reactions. 38
31423694 2019
46
Diagnostic evaluation and arrhythmia mechanisms in survivors of unexplained cardiac arrest. 38
31411341 2019
47
Measurement of J-Tpeakc along with QT-Interval Prolongation May Increase the Assay Sensitivity and Specificity for Predicting the Onset of Drug-Induced Torsade de Pointes: Experimental Evidences Based on Proarrhythmia Model Animals. 38
30712162 2019
48
Cardiopulmonary support in patients undergoing catheter ablation of poorly tolerated ventricular arrhythmias and electrical storm. 38
31111583 2019
49
Coronary artery involvement in chronic graft-versus-host disease presenting as sudden cardiac arrest. 38
31124210 2019
50
Association Between Time to Defibrillation and Neurologic Outcome in Patients With In-Hospital Cardiac Arrest. 38
31200920 2019

Variations for Ventricular Fibrillation, Paroxysmal Familial, 1

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

6 (show top 50) (show all 56)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 DSP NM_004415.4(DSP): c.2528C> A (p.Ser843Ter) single nucleotide variant Pathogenic rs1057518920 6:7575619-7575619 6:7575386-7575386
2 NKX2-5 NM_004387.4(NKX2-5): c.711C> A (p.Tyr237Ter) single nucleotide variant Pathogenic rs1554093433 5:172659836-172659836 5:173232833-173232833
3 SCN5A NM_000335.4(SCN5A): c.665G> A (p.Arg222Gln) single nucleotide variant Pathogenic rs45546039 3:38655272-38655272 3:38613781-38613781
4 CACNA1C NM_001129840.2(CACNA1C): c.1204G> A (p.Gly402Ser) single nucleotide variant Pathogenic rs587782933 12:2613692-2613692 12:2504526-2504526
5 RYR2 NM_001035.3(RYR2): c.1258C> T (p.Arg420Trp) single nucleotide variant Pathogenic rs190140598 1:237608788-237608788 1:237445488-237445488
6 SCN5A NM_000335.4(SCN5A): c.1099C> T (p.Arg367Cys) single nucleotide variant Pathogenic/Likely pathogenic rs199473097 3:38648201-38648201 3:38606710-38606710
7 SCN5A NM_000335.4(SCN5A): c.5126C> T (p.Ser1709Leu) single nucleotide variant Pathogenic/Likely pathogenic rs137854604 3:38592734-38592734 3:38551243-38551243
8 RYR2 NM_001035.3(RYR2): c.2267G> A (p.Ser756Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs193922623 1:237664074-237664074 1:237500774-237500774
9 SCN5A NM_000335.4(SCN5A): c.1567C> T (p.Arg523Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199473119 3:38645526-38645526 3:38604035-38604035
10 PKP2 NM_004572.3(PKP2): c.1974A> G (p.Gln658=) single nucleotide variant Conflicting interpretations of pathogenicity rs138901574 12:32974461-32974461 12:32821527-32821527
11 SCN5A NM_000335.4(SCN5A): c.5869C> T (p.Arg1957Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs757532106 3:38591991-38591991 3:38550500-38550500
12 SCN1B NM_001037.5(SCN1B): c.448+112G> A single nucleotide variant Conflicting interpretations of pathogenicity rs72558026 19:35524755-35524755 19:35033851-35033851
13 TTN NM_001267550.2(TTN): c.33501_33503AGA[6] (p.Glu11172dup) short repeat Conflicting interpretations of pathogenicity rs368327166 2:179544686-179544688 2:178679959-178679961
14 CACNB2 NM_201590.3(CACNB2): c.172-8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs374465425 10:18787276-18787276 10:18498347-18498347
15 SNTA1 NM_003098.2(SNTA1): c.589C> T (p.Arg197Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs530603992 20:32005637-32005637 20:33417831-33417831
16 AKAP9 NM_005751.4(AKAP9): c.4825_4826delinsCA (p.Arg1609Gln) indel Conflicting interpretations of pathogenicity rs786205707 7:91670120-91670121 7:92040806-92040807
17 AKAP9 NM_005751.4(AKAP9): c.3580G> A (p.Ala1194Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs139965373 7:91643610-91643610 7:92014296-92014296
18 KCNE3 NM_005472.4(KCNE3): c.248G> A (p.Arg83His) single nucleotide variant Conflicting interpretations of pathogenicity rs17215437 11:74168361-74168361 11:74457316-74457316
19 KCNJ2 NM_000891.2(KCNJ2): c.973C> T (p.Arg325Cys) single nucleotide variant Uncertain significance rs202067116 17:68172153-68172153 17:70176012-70176012
20 MYH6 NM_002471.3(MYH6): c.2612G> A (p.Arg871His) single nucleotide variant Uncertain significance rs869025473 14:23863350-23863350 14:23394141-23394141
21 DSG2 NM_001943.5(DSG2): c.3265G> A (p.Gly1089Ser) single nucleotide variant Uncertain significance rs869025389 18:29126614-29126614 18:31546651-31546651
22 SCN5A NM_000335.4(SCN5A): c.5792C> T (p.Ala1931Val) single nucleotide variant Uncertain significance 3:38592068-38592068 3:38550577-38550577
23 DPP6 NM_001039350.3(DPP6): c.1522+1G> T single nucleotide variant Uncertain significance 7:154645538-154645538 7:154853828-154853828
24 SNTA1 NM_003098.2(SNTA1): c.1210G> A (p.Ala404Thr) single nucleotide variant Uncertain significance rs730880217 20:31997968-31997968 20:33410162-33410162
25 SCN5A NM_000335.4(SCN5A): c.2924G> A (p.Arg975Gln) single nucleotide variant Uncertain significance rs753149586 3:38622726-38622726 3:38581235-38581235
26 PKP2 NM_004572.3(PKP2): c.964G> T (p.Gly322Cys) single nucleotide variant Uncertain significance rs200069860 12:33030850-33030850 12:32877916-32877916
27 SCN5A NM_000335.4(SCN5A): c.2399G> A (p.Arg800His) single nucleotide variant Uncertain significance rs566251672 3:38628928-38628928 3:38587437-38587437
28 DSP NM_004415.4(DSP): c.3134G> A (p.Arg1045Gln) single nucleotide variant Uncertain significance rs374263890 6:7579557-7579557 6:7579324-7579324
29 AKAP9 NM_005751.4(AKAP9): c.5272G> C (p.Asp1758His) single nucleotide variant Uncertain significance rs142603711 7:91674431-91674431 7:92045117-92045117
30 RBM20 NM_001134363.3(RBM20): c.3067G> T (p.Asp1023Tyr) single nucleotide variant Uncertain significance rs730880186 10:112581444-112581444 10:110821686-110821686
31 CACNB2 NM_201590.3(CACNB2): c.894G> A (p.Ala298=) single nucleotide variant Uncertain significance rs730880058 10:18823006-18823006 10:18534077-18534077
32 VCL NM_014000.2(VCL): c.2050A> G (p.Arg684Gly) single nucleotide variant Uncertain significance rs730880249 10:75863605-75863605 10:74103847-74103847
33 JPH2 NM_020433.4(JPH2): c.723C> G (p.Ser241Arg) single nucleotide variant Uncertain significance rs587782952 20:42788704-42788704 20:44160064-44160064
34 SCN5A NM_000335.4(SCN5A): c.5783G> A (p.Arg1928His) single nucleotide variant Uncertain significance rs727504822 3:38592077-38592077 3:38550586-38550586
35 SCN5A NM_000335.4(SCN5A): c.152C> T (p.Ala51Val) single nucleotide variant Uncertain significance rs727505131 3:38674647-38674647 3:38633156-38633156
36 JUP NM_002230.4(JUP): c.2069A> G (p.Asn690Ser) single nucleotide variant Uncertain significance rs147628503 17:39912444-39912444 17:41756192-41756192
37 ACTN2 NM_001103.3(ACTN2): c.82C> T (p.Arg28Cys) single nucleotide variant Uncertain significance rs730880040 1:236850055-236850055 1:236686755-236686755
38 RYR2 NM_001035.3(RYR2): c.14635C> A (p.Gln4879Lys) single nucleotide variant Uncertain significance rs730880200 1:237991725-237991725 1:237828425-237828425
39 DSP NM_004415.4(DSP): c.6812A> C (p.Lys2271Thr) single nucleotide variant Uncertain significance rs730880089 6:7584307-7584307 6:7584074-7584074
40 RBM20 NM_001134363.3(RBM20): c.2565_2570del (p.Gln856_Glu857del) deletion Uncertain significance rs397516603 10:112579844-112579849 10:110820086-110820091
41 SCN5A NM_000335.4(SCN5A): c.1282G> A (p.Glu428Lys) single nucleotide variant Uncertain significance rs199473111 3:38647498-38647498 3:38606007-38606007
42 SCN5A NM_000335.4(SCN5A): c.3080G> A (p.Arg1027Gln) single nucleotide variant Uncertain significance rs763891399 3:38622570-38622570 3:38581079-38581079
43 SCN5A NM_000335.4(SCN5A): c.3118G> A (p.Gly1040Arg) single nucleotide variant Uncertain significance rs199473186 3:38622532-38622532 3:38581041-38581041
44 SCN5A NM_000335.4(SCN5A): c.3553G> A (p.Ala1185Thr) single nucleotide variant Uncertain significance rs199473595 3:38616898-38616898 3:38575407-38575407
45 SCN5A NM_000335.4(SCN5A): c.4783T> A (p.Phe1595Ile) single nucleotide variant Uncertain significance rs199473278 3:38595797-38595797 3:38554306-38554306
46 SCN5A NM_000335.4(SCN5A): c.5686C> T (p.Arg1896Trp) single nucleotide variant Uncertain significance rs45465995 3:38592174-38592174 3:38550683-38550683
47 SCN5A NM_000335.4(SCN5A): c.5735G> A (p.Arg1912His) single nucleotide variant Uncertain significance rs199473327 3:38592125-38592125 3:38550634-38550634
48 SCN5A NM_000335.4(SCN5A): c.5800G> A (p.Gly1934Ser) single nucleotide variant Uncertain significance rs199473637 3:38592060-38592060 3:38550569-38550569
49 SCN5A NM_000335.4(SCN5A): c.5901C> G (p.Ile1967Met) single nucleotide variant Uncertain significance rs199473333 3:38591959-38591959 3:38550468-38550468
50 SCN5A NM_000335.4(SCN5A): c.880G> A (p.Val294Met) single nucleotide variant Uncertain significance rs199473086 3:38651279-38651279 3:38609788-38609788

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

74
# Symbol AA change Variation ID SNP ID
1 SCN5A p.Ser1710Leu VAR_017685 rs137854604

Expression for Ventricular Fibrillation, Paroxysmal Familial, 1

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

Pathways for Ventricular Fibrillation, Paroxysmal Familial, 1

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

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.8 TNNT2 SLC9A1 RYR2 NGF CACNA1C
2
Show member pathways
12.53 TNNT2 SLC9A1 SCN5A RYR2 KCNQ1 KCNJ5
3
Show member pathways
12.34 TNNT2 SCN5A RYR2 NKX2-5 KCNQ1 KCNH2
4 12.15 KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1 CACNA1C
5
Show member pathways
11.98 TNNT2 RYR2 CACNA1C
6 11.98 SCN5A RYR2 NGF KCNQ1 KCNH2
7
Show member pathways
11.92 SLC9A1 KCNQ1 KCNE2
8
Show member pathways
11.86 KCNQ1 KCNJ5 KCNH2
9 11.64 SLC9A1 RYR2 KCNQ1
10 11.64 TNNT2 SLC9A1 RYR2 CACNA1C
11
Show member pathways
11.53 SCN5A KCNQ1 KCNE2 KCNE1 CACNA1C
12 11.33 TNNT2 SCN5A NKX2-5
13 11.02 SCN5A RYR2 KCNQ1 KCNJ5 KCNH2 KCNE2
14 10.76 KCNQ1 KCNE1

GO Terms for Ventricular Fibrillation, Paroxysmal Familial, 1

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

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.8 SLC9A1 SCN5A KCNH2 KCNE2 KCNE1
2 intercalated disc GO:0014704 9.5 SLC9A1 SCN5A DSP
3 Z disc GO:0030018 9.46 SCN5A RYR2 KCNE1 CACNA1C
4 T-tubule GO:0030315 9.43 SLC9A1 SCN5A KCNJ5
5 sarcolemma GO:0042383 9.26 SLC9A1 SCN5A RYR2 CACNA1C
6 voltage-gated potassium channel complex GO:0008076 9.02 KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
7 plasma membrane GO:0005886 10.11 SLC9A1 SCN5A RYR2 KNG1 KCNQ1 KCNJ5

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

(show all 43)
# Name GO ID Score Top Affiliating Genes
1 potassium ion transport GO:0006813 9.92 KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
2 potassium ion transmembrane transport GO:0071805 9.91 SLC9A1 KCNQ1 KCNH2 KCNE2 KCNE1
3 regulation of ion transmembrane transport GO:0034765 9.91 SCN5A KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
4 ion transmembrane transport GO:0034220 9.83 SCN5A RYR2 CACNA1C
5 cellular response to drug GO:0035690 9.81 KCNQ1 KCNH2 KCNE2
6 cardiac muscle cell action potential involved in contraction GO:0086002 9.8 SCN5A KCNE2 KCNE1 CACNA1C
7 potassium ion export across plasma membrane GO:0097623 9.78 KCNQ1 KCNH2 KCNE2 KCNE1
8 regulation of potassium ion transmembrane transport GO:1901379 9.76 KCNH2 KCNE2 KCNE1
9 membrane repolarization GO:0086009 9.76 KCNQ1 KCNH2 KCNE2 KCNE1
10 positive regulation of potassium ion transmembrane transport GO:1901381 9.75 KCNQ1 KCNH2 KCNE1
11 cellular response to epinephrine stimulus GO:0071872 9.74 SLC9A1 RYR2 KCNQ1
12 regulation of membrane repolarization GO:0060306 9.73 KCNQ1 KCNH2 KCNE2
13 cardiac muscle contraction GO:0060048 9.73 TNNT2 SCN5A RYR2 NKX2-5 KCNQ1 KCNH2
14 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.72 RYR2 DSP CACNA1C
15 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.72 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
16 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.71 KCNQ1 KCNH2 KCNE1
17 membrane repolarization during action potential GO:0086011 9.71 KCNQ1 KCNH2 KCNE2 KCNE1
18 cardiac muscle cell differentiation GO:0055007 9.69 SLC9A1 NKX2-5
19 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.69 RYR2 CACNA1C
20 positive regulation of heart rate GO:0010460 9.68 RYR2 KCNQ1
21 regulation of cardiac muscle contraction GO:0055117 9.68 RYR2 NKX2-5
22 cardiovascular system development GO:0072358 9.68 NKX2-5 KCNQ1
23 response to muscle stretch GO:0035994 9.68 SLC9A1 RYR2
24 positive regulation of sodium ion transport GO:0010765 9.67 SCN5A NKX2-5
25 membrane depolarization during action potential GO:0086010 9.67 SCN5A KCNH2
26 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.67 KCNE2 KCNE1
27 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.66 RYR2 CACNA1C
28 calcium ion transport into cytosol GO:0060402 9.66 RYR2 CACNA1C
29 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.65 SCN5A CACNA1C
30 atrial cardiac muscle cell action potential GO:0086014 9.65 SCN5A KCNQ1
31 regulation of cardiac muscle contraction by calcium ion signaling GO:0010882 9.64 SLC9A1 RYR2
32 regulation of delayed rectifier potassium channel activity GO:1902259 9.63 KCNE2 KCNE1
33 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.63 SCN5A KCNQ1
34 positive regulation of the force of heart contraction GO:0098735 9.62 SLC9A1 RYR2
35 positive regulation of action potential GO:0045760 9.62 SLC9A1 SCN5A
36 membrane repolarization during atrial cardiac muscle cell action potential GO:0098914 9.61 KCNQ1 KCNJ5
37 membrane depolarization during AV node cell action potential GO:0086045 9.61 SCN5A CACNA1C
38 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.6 SCN5A CACNA1C
39 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.55 KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
40 ventricular cardiac muscle cell action potential GO:0086005 9.43 SCN5A RYR2 KCNQ1 KCNH2 KCNE2 KCNE1
41 regulation of heart rate by cardiac conduction GO:0086091 9.23 SCN5A KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
42 ion transport GO:0006811 10.09 SLC9A1 SCN5A RYR2 KCNQ1 KCNJ5 KCNH2
43 transmembrane transport GO:0055085 10.07 SLC9A1 SCN5A RYR2 KCNQ1 KCNH2 CACNA1C

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.83 SLC9A1 SCN5A RYR2 KCNQ1 CACNA1C
2 ion channel activity GO:0005216 9.8 SCN5A RYR2 KCNH2 CACNA1C
3 potassium channel activity GO:0005267 9.76 KCNQ1 KCNH2 KCNE2 KCNE1
4 voltage-gated potassium channel activity GO:0005249 9.71 KCNQ1 KCNH2 KCNE2 KCNE1
5 scaffold protein binding GO:0097110 9.67 SCN5A KCNQ1 KCNH2 DSP
6 inward rectifier potassium channel activity GO:0005242 9.65 KCNJ5 KCNH2 KCNE2
7 ion channel binding GO:0044325 9.65 SCN5A RYR2 KCNQ1 KCNE2 KCNE1
8 protein kinase A regulatory subunit binding GO:0034237 9.56 RYR2 KCNQ1
9 protein kinase A catalytic subunit binding GO:0034236 9.55 RYR2 KCNQ1
10 protein binding, bridging GO:0030674 9.54 TNNT2 SLC9A1
11 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization GO:0086089 9.51 KCNQ1 KCNJ5
12 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.5 KCNQ1 KCNH2 KCNE1
13 delayed rectifier potassium channel activity GO:0005251 9.46 KCNQ1 KCNH2 KCNE2 KCNE1
14 voltage-gated ion channel activity GO:0005244 9.43 SCN5A KCNQ1 KCNJ5 KCNH2 KCNE2 CACNA1C
15 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.02 KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
16 protein binding GO:0005515 10.37 TNNT2 SLC9A1 SCN5A RYR2 NKX2-5 NGF

Sources for Ventricular Fibrillation, Paroxysmal Familial, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
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38 LifeMap
40 LOVD
42 MedGen
44 MeSH
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51 NDF-RT
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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