VF1
MCID: VNT034
MIFTS: 63

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 58 76
Ventricular Fibrillation 45 17 74
Ivf 58 76 3
Paroxysmal Familial Ventricular Fibrillation 1 30 6
Ventricular Fibrillation, Familial, 1 58 13
Vf1 58 76
Vf 58 76
Susceptibility to Ventricular Fibrillation During Myocardial Infarction 76
Fibrillation, Ventricular, Paroxysmal, Familial, Type 1 41
Familial Paroxysmal Ventricular Fibrillation 1 76
Ventricular Fibrillation Adverse Event 74
Fibrillation, Ventricular 41

Classifications:



External Ids:

OMIM 58 603829
MeSH 45 D014693
MedGen 43 C2751898

Summaries for Ventricular Fibrillation, Paroxysmal Familial, 1

OMIM : 58 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 Aspirin and Nicorandil have been mentioned in the context of this disorder. Affiliated tissues include testes, kidney and brain, and related phenotypes are syncope and tachycardia

CDC : 3 ART has been used in the United States since 1981 to help women become pregnant.

UniProtKB/Swiss-Prot : 76 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 : 77 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 320)
# Related Disease Score Top Affiliating Genes
1 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 33.0 DSP KCNH2 KCNQ1 RYR2 SCN5A
2 catecholaminergic polymorphic ventricular tachycardia 32.3 DSP KCNH2 RYR2 SCN5A
3 syncope 30.8 KCNH2 KCNQ1 SCN5A
4 long qt syndrome 1 30.8 CACNA1C DSP KCNE1 KCNE2 KCNH2 KCNJ5
5 atrial standstill 1 30.7 DSP SCN5A TNNT2
6 right bundle branch block 30.6 CACNA1C SCN5A
7 cardiac conduction defect 30.5 DSP KCNH2 KCNQ1 RYR2 SCN5A
8 arrhythmogenic right ventricular cardiomyopathy 30.5 DSP KCNH2 RYR2 SCN5A
9 hypertrophic cardiomyopathy 30.3 CACNA1C DSP RYR2 SCN5A TNNT2
10 atrial fibrillation 30.0 KCNE1 KCNE2 KCNH2 KCNQ1 RYR2 SCN5A
11 third-degree atrioventricular block 30.0 KCNE2 SCN5A
12 brugada syndrome 1 30.0 KCNH2 SCN5A
13 cardiac arrest 29.9 DSP KCNH2 KCNQ1 RYR2 SCN5A TNNT2
14 short qt syndrome 29.6 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1
15 sudden infant death syndrome 29.6 KCNH2 KCNQ1 RYR2 SCN5A
16 brugada syndrome 29.6 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
17 atrioventricular block 29.5 KCNE1 KCNE2 KCNH2 KCNQ1 NKX2-5 SCN5A
18 timothy syndrome 29.4 CACNA1C KCNE1 KCNH2 KCNQ1
19 long qt syndrome 29.4 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
20 heart disease 29.3 CACNA1C DSP KCNE2 KCNH2 KCNQ1 NKX2-5
21 left ventricular noncompaction 29.3 DSP KCNQ1 NKX2-5 RYR2 SCN5A TNNT2
22 myocardial stunning 29.3 KCNJ5 SLC9A1
23 dilated cardiomyopathy 29.0 CACNA1C CHKB DSP KCNH2 KCNQ1 NKX2-5
24 ventricular fibrillation, paroxysmal familial, 2 12.7
25 early repolarization associated with ventricular fibrillation 12.6
26 idiopathic ventricular fibrillation, non brugada type 12.4
27 ventricular tachycardia, catecholaminergic polymorphic, 2 11.7
28 ventricular tachycardia, catecholaminergic polymorphic, 4 11.7
29 premature ovarian failure 1 11.6
30 polycystic ovary syndrome 11.5
31 cardiac arrhythmia, ankyrin-b-related 11.4
32 paroxysmal ventricular fibrillation 11.1
33 ventricular tachycardia, familial 11.1
34 cardiomyopathy, infantile histiocytoid 11.1
35 ischemia 10.8
36 ovarian hyperstimulation syndrome 10.6
37 infertility 10.6
38 endometriosis 10.5
39 wolff-parkinson-white syndrome 10.5
40 rere-related disorders 10.4
41 familial progressive cardiac conduction defect 10.4 NKX2-5 SCN5A
42 ectopic pregnancy 10.3
43 arteries, anomalies of 10.3
44 coronary artery anomaly 10.3
45 hypokalemia 10.3
46 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.3 DSP RYR2
47 progressive familial heart block, type ia 10.3
48 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.3 DSP RYR2
49 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.3 DSP RYR2
50 progressive familial heart block, type ib 10.3

Comorbidity relations with Ventricular Fibrillation, Paroxysmal Familial, 1 via Phenotypic Disease Network (PDN): (show all 22)


Acute Cystitis Acute Kidney Failure
Aortic Valve Disease 1 Cardiac Arrest
Cardiogenic Shock Chronic Kidney Failure
Chronic Myocardial Ischemia Deficiency Anemia
Dressler's Syndrome Familial Atrial Fibrillation
First-Degree Atrioventricular Block Heart Disease
Hypertension, Essential Intermediate Coronary Syndrome
Ischemic Heart Disease 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:

33
# Description HPO Frequency HPO Source Accession
1 syncope 33 HP:0001279
2 tachycardia 33 HP:0001649
3 ventricular fibrillation 33 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:

47
# 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 323)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aspirin Approved, Vet_approved Phase 4,Phase 3,Not Applicable 50-78-2 2244
2
Nicorandil Approved, Investigational Phase 4 65141-46-0 47528
3
Heparin Approved, Investigational Phase 4,Phase 3 9005-49-6 46507594 772
4
Ticagrelor Approved Phase 4 274693-27-5 9871419
5
Sotalol Approved Phase 4,Phase 3 959-24-0, 3930-20-9 5253
6
Amiodarone Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 1951-25-3 2157
7
Captopril Approved Phase 4 62571-86-2 44093
8
Bisoprolol Approved Phase 4,Phase 3 66722-44-9 2405
9
Enalaprilat Approved Phase 4 76420-72-9 6917719
10
Ramipril Approved Phase 4 87333-19-5 5362129
11
Eplerenone Approved Phase 4,Phase 3 107724-20-9 443872 150310
12
Lisinopril Approved, Investigational Phase 4 83915-83-7, 76547-98-3 5362119
13
Enalapril Approved, Vet_approved Phase 4 75847-73-3 40466924 5362032
14
Nebivolol Approved, Investigational Phase 4 152520-56-4, 99200-09-6, 118457-14-0 71301
15
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
16
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
17
Candesartan cilexetil Approved Phase 4 145040-37-5 2540
18
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
19
Metoprolol Approved, Investigational Phase 4,Phase 2 37350-58-6, 51384-51-1 4171
20
Dobutamine Approved Phase 4 34368-04-2 36811
21 Grape Approved Phase 4
22
Atorvastatin Approved Phase 4 134523-00-5 60823
23
Racepinephrine Approved Phase 4,Phase 3,Phase 2,Not Applicable 329-65-7 838
24
Epinephrine Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 51-43-4 5816
25
Midazolam Approved, Illicit Phase 4,Phase 2 59467-70-8 4192
26
Dexmedetomidine Approved, Vet_approved Phase 4,Not Applicable 113775-47-6 5311068 68602
27
Clopidogrel Approved Phase 4,Phase 3,Not Applicable 120202-66-6, 113665-84-2 60606
28
Tenecteplase Approved Phase 4,Phase 3 191588-94-0
29
Nitric Oxide Approved Phase 4 10102-43-9 145068
30
Furosemide Approved, Vet_approved Phase 4,Not Applicable 54-31-9 3440
31
Nitroprusside Approved, Investigational Phase 4 15078-28-1 11963622
32
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
33
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
34
Esmolol Approved Phase 4 103598-03-4, 81147-92-4 59768
35
Empagliflozin Approved Phase 4 864070-44-0
36
Ceftaroline fosamil Approved, Investigational Phase 4 229016-73-3
37
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
38
Clarithromycin Approved Phase 4 81103-11-9 84029
39
Azithromycin Approved Phase 4 83905-01-5 447043 55185
40
Piperacillin Approved Phase 4 66258-76-2 43672
41
Ofloxacin Approved Phase 4 82419-36-1 4583
42
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
43
Polyestradiol phosphate Approved Phase 4 28014-46-2
44
Levofloxacin Approved, Investigational Phase 4 100986-85-4 149096
45
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
46
Norgestimate Approved, Investigational Phase 4 35189-28-7 6540478
47
Hydrocortisone Approved, Vet_approved Phase 4,Phase 3 50-23-7 5754
48
Ceftriaxone Approved Phase 4 73384-59-5 5479530 5361919
49
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
50
Hydrocortisone acetate Approved, Vet_approved Phase 4,Phase 3 50-03-3

Interventional clinical trials:

(show top 50) (show all 355)
# Name Status NCT ID Phase Drugs
1 Effect of Nicorandil for the Patients of Acute ST Segment Elevation Myocardial Infarction Unknown status NCT02435797 Phase 4 Nicorandil;normal saline
2 Medical ANtiarrhythmic Treatment or Radiofrequency Ablation in Ischemic Ventricular Tachyarrhythmias Unknown status NCT02303639 Phase 4 Antiarrhythmic drug therapy
3 Magnesium to Reduce Implantable Cardioverter Defibrillator (ICD) Shocks and Improve Patient's Quality of Life. Unknown status NCT00282620 Phase 4 Magnesium L-lactate
4 Systematic Withdrawal of Neurohumoral Blocker Therapy in Optimally Responding CRT Patients Unknown status NCT02200822 Phase 4 beta blockers;RAAS blockers
5 Evaluation of the Efficacy and Safety of Nifekalant Hydrochloride (NIF) Injection. Recruiting NCT03855826 Phase 4 Nifekalant hydrochloride;Amiodarone
6 ADVANCE-D: Antitachycardia Pacing (ATP) Delivery for Painless Implantable Cardioverter Defibrillator (ICD) Therapy Completed NCT00147277 Phase 4
7 The Use of Dual Chamber ICD With Special Programmed Features to Lower the Risk of Inappropriate Shock Completed NCT00787800 Phase 4
8 VERRARI - "Are Ventricular Arrhythmic Episodes Reduced by Rate Response in ICDs?" Completed NCT00180427 Phase 4
9 Atorvastatin For The Reduction Of Ventricular Arrhythmias Completed NCT00457340 Phase 4 Atorvastatin 80mg
10 Epinephrine Dose: Optimal Versus Standard Evaluation Trial Not yet recruiting NCT03826524 Phase 4 Epinephrine
11 Remote Follow-up of Patients Receiving Implantable Cardioverter Defibrillator for Prophylactic Therapy Completed NCT00401466 Phase 4
12 ADVANCE CRT - D: Antitachycardia Pacing (ATP) Delivery for Painless Implantable Cardioverter Defibrillator (ICD) Therapy Completed NCT00147290 Phase 4
13 Trop-Shock DFT-testing Versus None Completed NCT01230086 Phase 4
14 Trial of Different Hypothermia Temperatures in Patients Recovered From Out-of-hospital Cardiac Arrest Completed NCT01155622 Phase 4
15 Transthoracic Incremental Monophasic Versus Biphasic by Emergency Responders (TIMBER) Completed NCT00101881 Phase 4
16 Influence of Home Monitoring on the Clinical Status of Heart Failure Patients With an Impaired Left Ventricular Function Completed NCT00538356 Phase 4
17 Acute Chest Pain Treatment and Evaluation (ACTION) Study Completed NCT00434564 Phase 4
18 RIGHT: Rhythm ID Going Head-to-Head Trial Completed NCT00148954 Phase 4
19 SMS: Substrate Modification Study in Patients Getting an Implantable Cardioverter Defibrillator (ICD) Completed NCT00170287 Phase 4
20 ASSURE Study - Arrhythmia Single Shock DFT Versus ULV: Risk Reduction Evaluation With ICD Implantations Completed NCT00231426 Phase 4
21 Clinical and Economical Interest of Endovascular Cooling in the Management of Cardiac Arrest (ICEREA Study) Completed NCT00392639 Phase 4
22 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
23 Fast VT Episodes Are Terminated by ATP One Shot Completed NCT00617578 Phase 4
24 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
25 REFLEx Study (ENDOTAK RELIANCE G Evaluation of Handling and Electrical Performance Completed NCT00146822 Phase 4
26 STrategic Reperfusion in Elderly Patients Early After Myocardial Infarction Recruiting NCT02777580 Phase 4 Tenecteplase;Clopidogrel
27 'Effect of CRT on Defibrillation Threshold Estimates' Study Completed NCT00626093 Phase 4
28 Albumin in Cardiac Surgery Recruiting NCT02560519 Phase 4 Albumin solution;Ringers acetate solution
29 TRUST: Lumos-T Safely RedUceS RouTine Office Device Follow-up Completed NCT00336284 Phase 4
30 Intravenous Vasodilator vs. Inotropic Therapy in Patients With Heart Failure Withdrawn NCT02767024 Phase 4 Sodium nitroprusside;Dobutamine;Furosemide
31 Safety of Sugammadex for the Reversal of Neuromuscular Blockade in American Society of Anesthesiologists (ASA) Class 3 or 4 Participants (MK-8616-145) Recruiting NCT03346057 Phase 4 Sugammadex 2 mg/kg;Sugammadex 4 mg/kg;Sugammadex 16 mg/kg;Neostigmine + Glycopyrrolate
32 Esmolol in Cardiac Surgery Completed NCT00959569 Phase 4 Esmolol;Placebo
33 Reduce Ventricular Pacing in Dual Chamber Implantable Cardioverter Defibrillators Using AutoIntrinsic Conduction Search Study Completed NCT00187239 Phase 4
34 Study to Verify Proper Detection of Supraventricular Tachyarrhythmia With Single-Lead Dual-Chamber Implantable Cardioverter-Defibrillators (ADRIA) Completed NCT00324662 Phase 4
35 Impact Of Eplerenone On Cardiovascular Outcomes In Patients Post Myocardial Infarction Completed NCT01176968 Phase 4 Eplerenone;Placebo
36 Temperature Control in Central Fever in the Neuro-ICU Completed NCT00751634 Phase 4
37 Survival of Patients With Primary Prophylactic ICD Indication Completed NCT00619593 Phase 4
38 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
39 Effect of Ivabradine and Beta-blockers Combination Versus Beta-blockers Up-titration on Right Ventricular Pacing Suspended NCT01868880 Phase 4 Ivabradine plus beta-blocker (bisoprolol);betablocker titration
40 Carvedilol Post-intervention Long-term Administration in Large-scale Trial Completed NCT01155635 Phase 4 Carvedilol;No Carvedilol
41 Targeted Potassium Levels for Prevention of ICD Therapy Not yet recruiting NCT03833089 Phase 4
42 Randomized, Embedded, Multifactorial Adaptive Platform Trial for Community- Acquired Pneumonia Recruiting NCT02735707 Phase 4 Hydrocortisone;Ceftriaxone;Moxifloxacin or Levofloxacin;Piperacillin tazobactam;Ceftaroline;Amoxicillin Clavulanate;Macrolide administered for 3 days;Macrolide administered for up to 14 days
43 Efficacy and Safety of Sugammadex Dosed According to Actual Body Weight (ABW) or Ideal Body Weight (IBW) in Reversal of Neuromuscular Blockade (NMB) in Morbidly Obese Participants (MK-8616-146) Completed NCT03346070 Phase 4 Sugammadex 2 mg/kg ABW;Sugammadex 2 mg/kg IBW;Sugammadex 4 mg/kg ABW;Sugammadex 4 mg/kg IBW;Neostigmine + Glycopyrrolate
44 Lidocaine vs Ketorolac for Management of Renal Colic in the Emergency Department Recruiting NCT03137498 Phase 4 Lidocaine;Ketorolac
45 Low-dose Dexmedetomidine and Postoperative Delirium After Cardiac Surgery Recruiting NCT03624595 Phase 4 Dexmedetomidine;Placebo
46 High Low Biphasic Energy Defibrillation (HiLoBED) Unknown status NCT00429611 Phase 3
47 BENEFIT: Evaluation of the Use of Antiparasital Drug (Benznidazole) in the Treatment of Chronic Chagas' Disease Unknown status NCT00123916 Phase 3 Benznidazole;Placebo
48 RAMYD Study - Evaluation of Arrhythmic Risk in Myotonic Dystrophy Unknown status NCT00127582 Phase 3
49 Efficacy of the Ultrasound-guided Transversus Abdominis Plane Block in Open Aortic Abdominal Aneurysm Repair Surgery Unknown status NCT02292667 Phase 3 PCA with Chlorhydrate of Morphine;Acetaminophen
50 Amiodarone, Lidocaine or Neither for Out-Of-Hospital Cardiac Arrest Due to Ventricular Fibrillation or Tachycardia Completed NCT01401647 Phase 3 amiodarone;Lidocaine

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

Inferred drug relations via UMLS 74 / NDF-RT 52 :


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 30 SCN5A

Anatomical Context for Ventricular Fibrillation, Paroxysmal Familial, 1

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

42
Testes, Kidney, Brain, Heart, Placenta, Thyroid, Skin

Publications for Ventricular Fibrillation, Paroxysmal Familial, 1

Articles related to Ventricular Fibrillation, Paroxysmal Familial, 1:

(show top 50) (show all 3070)
# Title Authors Year
1
Amiodarone Treatment in the Early Phase of Acute Myocardial Infarction Protects Against Ventricular Fibrillation in a Porcine Model. ( 30617762 )
2019
2
Impact of the angiographic burden on the incidence of out-of-hospital ventricular fibrillation in patients with acute myocardial infarction. ( 30006656 )
2019
3
The impact of double sequential external defibrillation on termination of refractory ventricular fibrillation during out-of-hospital cardiac arrest. ( 31059670 )
2019
4
Patients With Refractory Out-of-Cardiac Arrest and Sustained Ventricular Fibrillation as Candidates for Extracorporeal Cardiopulmonary Resuscitation - Prospective Multi-Center Observational Study. ( 30890669 )
2019
5
Effectiveness of Prehospital Dual Sequential Defibrillation for Refractory Ventricular Fibrillation and Ventricular Tachycardia Cardiac Arrest. ( 30773983 )
2019
6
Temporal trends of survival and utilization of mechanical circulatory support devices in patients with in-hospital cardiac arrest secondary to ventricular tachycardia/ventricular fibrillation. ( 30790415 )
2019
7
The association of chronic health status and survival following ventricular fibrillation cardiac arrest: Investigation of a primary myocardial mechanism. ( 30794830 )
2019
8
Repetitive anodal transcranial direct current stimulation improves neurological outcome and survival in a ventricular fibrillation cardiac arrest rat model. ( 30611705 )
2019
9
Double sequential external defibrillation for refractory ventricular fibrillation out-of-hospital cardiac arrest: A systematic review and meta-analysis. ( 30612966 )
2019
10
Ventricular Fibrillation Waveform Analysis During Chest Compressions to Predict Survival From Cardiac Arrest. ( 30626208 )
2019
11
During a paediatric traumatic cardiac arrest, is ventricular fibrillation a reversible cause like any other? ( 30630839 )
2019
12
Authors' response to letter entitled 'During a paediatric traumatic cardiac arrest, is ventricular fibrillation a reversible cause like any other?' ( 30630843 )
2019
13
Ventricular Fibrillation Refractory to Cutaneous Electrical Defibrillation in a Morbidly Obese Pediatric Patient With Hypertrophic Cardiomyopathy: A Case Report. ( 31008723 )
2019
14
Ibutilide for the control of refractory ventricular tachycardia and ventricular fibrillation in patients with myocardial ischemia and hemodynamic instability. ( 30580467 )
2019
15
Catheter Ablation of Refractory Ventricular Fibrillation Storm After Myocardial Infarction: A Multicenter Study. ( 30929474 )
2019
16
Prolonged Tpeak-Tend interval is associated with ventricular fibrillation during reperfusion in ST-elevation myocardial infarction. ( 30661844 )
2019
17
Use of topical lidocaine in eliminating mechanically stimulated ventricular fibrillation in a patient with short QT syndrome. ( 30891413 )
2019
18
Recurrent admission with ventricular fibrillation in the context of Takotsubo cardiomyopathy. ( 30997343 )
2019
19
Late evolution of arrhythmogenic cardiomyopathy in patients with initial presentation as idiopathic ventricular fibrillation. ( 30693201 )
2019
20
Transgenic short-QT syndrome 1 rabbits mimic the human disease phenotype with QT/action potential duration shortening in the atria and ventricles and increased ventricular tachycardia/ventricular fibrillation inducibility. ( 30496390 )
2019
21
Risk assessment model for predicting ventricular tachycardia or ventricular fibrillation in ST-segment elevation myocardial infarction patients who received primary percutaneous coronary intervention. ( 30681585 )
2019
22
Physical Inactivity Is a Risk Factor for Primary Ventricular Fibrillation. ( 31023436 )
2019
23
Long-Term Follow-Up of Idiopathic Ventricular Fibrillation in a Pediatric Population: Clinical Characteristics, Management, and Complications. ( 31057083 )
2019
24
Optical imaging of voltage and calcium in isolated hearts: Linking spatiotemporal heterogeneities and ventricular fibrillation initiation. ( 31086382 )
2019
25
Cardiopulmonary Resuscitation with Extracorporeal Membrane Oxygenation in a Patient with Profound Accidental Hypothermia and Refractory Ventricular Fibrillation. ( 30096259 )
2019
26
Placement of a Continuous Stellate Ganglion Block for Treatment of Refractory Ventricular Fibrillation in the Setting of Known Prinzmetal Angina During Pregnancy: A Case Report. ( 30102609 )
2019
27
Idiopathic Ventricular Fibrillation Manifesting Delta-wave during Hypothermia Treatment. ( 30146602 )
2019
28
Prevalence of early repolarization syndrome and long-term clinical outcome in patients with the diagnosis of idiopathic ventricular fibrillation. ( 30288567 )
2019
29
Catheter Ablation of Ventricular Fibrillation. ( 30301669 )
2019
30
Selective beta-blocker esmolol improves cerebral cortex microcirculation in a swine ventricular fibrillation model. ( 30321461 )
2019
31
Prophylactic Effect of Amiodarone Infusion on Reperfusion Ventricular Fibrillation After Release of Aortic Cross-Clamp in Patients with Left Ventricular Hypertrophy Undergoing Aortic Valve Replacement: ARandomized Controlled Trial. ( 30416026 )
2019
32
A Slower Heart Rate and Therapeutic Hypothermia Unmasked Early Repolarization Syndrome in a Ventricular Fibrillation Survivor. ( 30464125 )
2019
33
Successful resuscitation with extracorporeal membrane oxygenation support for refractory ventricular fibrillation caused by left main coronary artery occlusion. ( 30503280 )
2019
34
Medical Castration is a Rare but Possible Trigger of Torsade de Pointes and Ventricular Fibrillation. ( 30518719 )
2019
35
Undersensing, asynchronous pacing, and ventricular fibrillation. ( 30726912 )
2019
36
Incessant Idiopathic Ventricular Fibrillation Trigger Originating From an Unusual Intramyocardial (Non-Purkinje) Site Successfully Treated With Catheter Ablation. ( 30784703 )
2019
37
Small Septal Branch Artery Thrombus Inducing Ventricular Fibrillation: To Intervene or Not to Intervene. ( 30799967 )
2019
38
A case of refractory ventricular fibrillation successfully treated with low-dose esmolol. ( 30852502 )
2019
39
'Reply to:' Importance of the distinction between recurrent and shock-resistant ventricular fibrillation: Call for a uniform definition of refractory VF. ( 30876743 )
2019
40
Importance of the distinction between recurrent and shock-resistant ventricular fibrillation: Call for a uniform definition of refractory VF. ( 30876921 )
2019
41
Factors Associated With High-Voltage Impedance and Subcutaneous Implantable Defibrillator Ventricular Fibrillation Conversion Success. ( 30917689 )
2019
42
Idiopathic ventricular fibrillation with repetitive activity inducible within the distal Purkinje system. ( 30980946 )
2019
43
Electrically-Induced Ventricular Fibrillation Alters Cardiovascular Function and Expression of Apoptotic and Autophagic Proteins in Rat Hearts. ( 30986903 )
2019
44
Recurrent idiopathic polymorphic ventricular tachycardia/ventricular fibrillation successfully treated by cardiac sympathetic denervation. ( 30997341 )
2019
45
The ventricular fibrillation waveform in relation to shock success in early vs. late phases of out-of-hospital resuscitation. ( 30999083 )
2019
46
Undersensing of ventricular fibrillation by a biventricular implantable cardioverter-defibrillator: What is the cause and the troubleshooting? ( 31007793 )
2019
47
Ventricular Fibrillation Due to Early Repolarization Syndrome in the Wake of Hypothermia Due to Fulminant Acute Disseminated Encephalomyelitis. ( 28931785 )
2018
48
Twenty-five year trends (1986-2011) in hospital incidence and case-fatality rates of ventricular tachycardia and ventricular fibrillation complicating acute myocardial infarction. ( 30471486 )
2018
49
Anthracycline-induced acute myocarditis and ventricular fibrillation arrest. ( 29194712 )
2018
50
A Rare Desmoglein-2 Gene Mutation in Arrhythmogenic Right Ventricular Cardiomyopathy Inciting Incessant Ventricular Fibrillation. ( 30524916 )
2018

Variations for Ventricular Fibrillation, Paroxysmal Familial, 1

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

76
# Symbol AA change Variation ID SNP ID
1 SCN5A p.Ser1710Leu VAR_017685 rs137854604

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

6 (show top 50) (show all 112)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNE3 NM_005472.4(KCNE3): c.248G> A (p.Arg83His) single nucleotide variant Conflicting interpretations of pathogenicity rs17215437 GRCh37 Chromosome 11, 74168361: 74168361
2 KCNE3 NM_005472.4(KCNE3): c.248G> A (p.Arg83His) single nucleotide variant Conflicting interpretations of pathogenicity rs17215437 GRCh38 Chromosome 11, 74457316: 74457316
3 SCN5A NM_000335.4(SCN5A): c.5126C> T (p.Ser1709Leu) single nucleotide variant Pathogenic/Likely pathogenic rs137854604 GRCh37 Chromosome 3, 38592734: 38592734
4 SCN5A NM_000335.4(SCN5A): c.5126C> T (p.Ser1709Leu) single nucleotide variant Pathogenic/Likely pathogenic rs137854604 GRCh38 Chromosome 3, 38551243: 38551243
5 SCN5A NM_000335.4(SCN5A): c.1282G> A (p.Glu428Lys) single nucleotide variant Uncertain significance rs199473111 GRCh37 Chromosome 3, 38647498: 38647498
6 SCN5A NM_000335.4(SCN5A): c.1282G> A (p.Glu428Lys) single nucleotide variant Uncertain significance rs199473111 GRCh38 Chromosome 3, 38606007: 38606007
7 RYR2 NM_001035.2(RYR2): c.2267G> A (p.Ser756Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs193922623 GRCh37 Chromosome 1, 237664074: 237664074
8 RYR2 NM_001035.2(RYR2): c.2267G> A (p.Ser756Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs193922623 GRCh38 Chromosome 1, 237500774: 237500774
9 SCN5A NM_198056.2(SCN5A): c.665G> A (p.Arg222Gln) single nucleotide variant Pathogenic rs45546039 GRCh37 Chromosome 3, 38655272: 38655272
10 SCN5A NM_198056.2(SCN5A): c.665G> A (p.Arg222Gln) single nucleotide variant Pathogenic rs45546039 GRCh38 Chromosome 3, 38613781: 38613781
11 MYH7 NM_000257.4(MYH7): c.3337-3dup duplication Benign rs45504498 GRCh37 Chromosome 14, 23889446: 23889446
12 MYH7 NM_000257.4(MYH7): c.3337-3dup duplication Benign rs45504498 GRCh38 Chromosome 14, 23420237: 23420237
13 RBM20 NM_001134363.2(RBM20): c.2565_2570delACAGGA (p.Gln856_Glu857del) deletion Uncertain significance rs397516603 GRCh37 Chromosome 10, 112579844: 112579849
14 RBM20 NM_001134363.2(RBM20): c.2565_2570delACAGGA (p.Gln856_Glu857del) deletion Uncertain significance rs397516603 GRCh38 Chromosome 10, 110820086: 110820091
15 TTN NM_001267550.1(TTN): c.33513_33515dup (p.Glu11172_Tyr11173insGlu) duplication Conflicting interpretations of pathogenicity rs368327166 GRCh37 Chromosome 2, 179544686: 179544688
16 TTN NM_001267550.1(TTN): c.33513_33515dup (p.Glu11172_Tyr11173insGlu) duplication Conflicting interpretations of pathogenicity rs368327166 GRCh38 Chromosome 2, 178679959: 178679961
17 SCN5A NM_198056.2(SCN5A): c.1099C> T (p.Arg367Cys) single nucleotide variant Pathogenic/Likely pathogenic rs199473097 GRCh37 Chromosome 3, 38648201: 38648201
18 SCN5A NM_198056.2(SCN5A): c.1099C> T (p.Arg367Cys) single nucleotide variant Pathogenic/Likely pathogenic rs199473097 GRCh38 Chromosome 3, 38606710: 38606710
19 SCN5A NM_000335.4(SCN5A): c.1199G> C (p.Gly400Ala) single nucleotide variant not provided rs199473106 GRCh37 Chromosome 3, 38647581: 38647581
20 SCN5A NM_000335.4(SCN5A): c.1199G> C (p.Gly400Ala) single nucleotide variant not provided rs199473106 GRCh38 Chromosome 3, 38606090: 38606090
21 SCN5A NM_198056.2(SCN5A): c.1567C> T (p.Arg523Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199473119 GRCh37 Chromosome 3, 38645526: 38645526
22 SCN5A NM_198056.2(SCN5A): c.1567C> T (p.Arg523Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199473119 GRCh38 Chromosome 3, 38604035: 38604035
23 SCN5A NM_198056.2(SCN5A): c.1715C> A (p.Ala572Asp) single nucleotide variant Benign/Likely benign rs36210423 GRCh37 Chromosome 3, 38645378: 38645378
24 SCN5A NM_198056.2(SCN5A): c.1715C> A (p.Ala572Asp) single nucleotide variant Benign/Likely benign rs36210423 GRCh38 Chromosome 3, 38603887: 38603887
25 SCN5A NM_198056.2(SCN5A): c.3118G> A (p.Gly1040Arg) single nucleotide variant Uncertain significance rs199473186 GRCh37 Chromosome 3, 38622532: 38622532
26 SCN5A NM_198056.2(SCN5A): c.3118G> A (p.Gly1040Arg) single nucleotide variant Uncertain significance rs199473186 GRCh38 Chromosome 3, 38581041: 38581041
27 SCN5A NM_198056.2(SCN5A): c.3556G> A (p.Ala1186Thr) single nucleotide variant Uncertain significance rs199473595 GRCh37 Chromosome 3, 38616898: 38616898
28 SCN5A NM_198056.2(SCN5A): c.3556G> A (p.Ala1186Thr) single nucleotide variant Uncertain significance rs199473595 GRCh38 Chromosome 3, 38575407: 38575407
29 SCN5A NM_198056.2(SCN5A): c.4786T> A (p.Phe1596Ile) single nucleotide variant Uncertain significance rs199473278 GRCh37 Chromosome 3, 38595797: 38595797
30 SCN5A NM_198056.2(SCN5A): c.4786T> A (p.Phe1596Ile) single nucleotide variant Uncertain significance rs199473278 GRCh38 Chromosome 3, 38554306: 38554306
31 SCN5A NM_000335.4(SCN5A): c.5686C> T (p.Arg1896Trp) single nucleotide variant Uncertain significance rs45465995 GRCh37 Chromosome 3, 38592174: 38592174
32 SCN5A NM_000335.4(SCN5A): c.5686C> T (p.Arg1896Trp) single nucleotide variant Uncertain significance rs45465995 GRCh38 Chromosome 3, 38550683: 38550683
33 SCN5A NM_198056.2(SCN5A): c.5738G> A (p.Arg1913His) single nucleotide variant Uncertain significance rs199473327 GRCh37 Chromosome 3, 38592125: 38592125
34 SCN5A NM_198056.2(SCN5A): c.5738G> A (p.Arg1913His) single nucleotide variant Uncertain significance rs199473327 GRCh38 Chromosome 3, 38550634: 38550634
35 SCN5A NM_198056.2(SCN5A): c.5803G> A (p.Gly1935Ser) single nucleotide variant Uncertain significance rs199473637 GRCh37 Chromosome 3, 38592060: 38592060
36 SCN5A NM_198056.2(SCN5A): c.5803G> A (p.Gly1935Ser) single nucleotide variant Uncertain significance rs199473637 GRCh38 Chromosome 3, 38550569: 38550569
37 SCN5A NM_198056.2(SCN5A): c.5904C> G (p.Ile1968Met) single nucleotide variant Uncertain significance rs199473333 GRCh37 Chromosome 3, 38591959: 38591959
38 SCN5A NM_198056.2(SCN5A): c.5904C> G (p.Ile1968Met) single nucleotide variant Uncertain significance rs199473333 GRCh38 Chromosome 3, 38550468: 38550468
39 SCN5A NM_198056.2(SCN5A): c.880G> A (p.Val294Met) single nucleotide variant Uncertain significance rs199473086 GRCh37 Chromosome 3, 38651279: 38651279
40 SCN5A NM_198056.2(SCN5A): c.880G> A (p.Val294Met) single nucleotide variant Uncertain significance rs199473086 GRCh38 Chromosome 3, 38609788: 38609788
41 CACNA1C NM_001167623.1(CACNA1C): c.1204G> A (p.Gly402Ser) single nucleotide variant Pathogenic rs587782933 GRCh37 Chromosome 12, 2613692: 2613692
42 CACNA1C NM_001167623.1(CACNA1C): c.1204G> A (p.Gly402Ser) single nucleotide variant Pathogenic rs587782933 GRCh38 Chromosome 12, 2504526: 2504526
43 JPH2 NM_020433.4(JPH2): c.723C> G (p.Ser241Arg) single nucleotide variant Uncertain significance rs587782952 GRCh37 Chromosome 20, 42788704: 42788704
44 JPH2 NM_020433.4(JPH2): c.723C> G (p.Ser241Arg) single nucleotide variant Uncertain significance rs587782952 GRCh38 Chromosome 20, 44160064: 44160064
45 SCN5A NM_198056.2(SCN5A): c.5786G> A (p.Arg1929His) single nucleotide variant Uncertain significance rs727504822 GRCh38 Chromosome 3, 38550586: 38550586
46 SCN5A NM_198056.2(SCN5A): c.5786G> A (p.Arg1929His) single nucleotide variant Uncertain significance rs727504822 GRCh37 Chromosome 3, 38592077: 38592077
47 SCN5A NM_198056.2(SCN5A): c.152C> T (p.Ala51Val) single nucleotide variant Uncertain significance rs727505131 GRCh37 Chromosome 3, 38674647: 38674647
48 SCN5A NM_198056.2(SCN5A): c.152C> T (p.Ala51Val) single nucleotide variant Uncertain significance rs727505131 GRCh38 Chromosome 3, 38633156: 38633156
49 JUP NM_002230.2(JUP): c.2069A> G (p.Asn690Ser) single nucleotide variant Uncertain significance rs147628503 GRCh37 Chromosome 17, 39912444: 39912444
50 JUP NM_002230.2(JUP): c.2069A> G (p.Asn690Ser) single nucleotide variant Uncertain significance rs147628503 GRCh38 Chromosome 17, 41756192: 41756192

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 CACNA1C NGF RYR2 SLC9A1 TNNT2
2
Show member pathways
12.62 CACNA1C KCNE1 KCNJ5 KCNQ1 RYR2 SCN5A
3
Show member pathways
12.34 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1 NKX2-5
4 12.15 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
5 11.98 KCNH2 KCNQ1 NGF RYR2 SCN5A
6
Show member pathways
11.96 CACNA1C RYR2 TNNT2
7
Show member pathways
11.92 KCNE2 KCNQ1 SLC9A1
8
Show member pathways
11.86 KCNH2 KCNJ5 KCNQ1
9 11.62 KCNQ1 RYR2 SLC9A1
10 11.6 CACNA1C RYR2 SLC9A1 TNNT2
11
Show member pathways
11.53 CACNA1C KCNE1 KCNE2 KCNQ1 SCN5A
12 11.33 NKX2-5 SCN5A TNNT2
13 11.02 CACNA1C DSP KCNE1 KCNE2 KCNH2 KCNJ5
14 10.76 KCNE1 KCNQ1

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 KCNE1 KCNE2 KCNH2 SCN5A SLC9A1
2 intercalated disc GO:0014704 9.5 DSP SCN5A SLC9A1
3 Z disc GO:0030018 9.46 CACNA1C KCNE1 RYR2 SCN5A
4 T-tubule GO:0030315 9.43 KCNJ5 SCN5A SLC9A1
5 sarcolemma GO:0042383 9.26 CACNA1C RYR2 SCN5A SLC9A1
6 voltage-gated potassium channel complex GO:0008076 9.02 KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
7 plasma membrane GO:0005886 10.11 CACNA1C DSP KCNE1 KCNE2 KCNH2 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 ion transmembrane transport GO:0034220 9.95 CACNA1C KCNQ1 RYR2 SCN5A
2 potassium ion transport GO:0006813 9.92 KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
3 potassium ion transmembrane transport GO:0071805 9.91 KCNE1 KCNE2 KCNH2 KCNQ1 SLC9A1
4 regulation of ion transmembrane transport GO:0034765 9.91 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
5 cellular response to drug GO:0035690 9.81 KCNE2 KCNH2 KCNQ1
6 cardiac muscle cell action potential involved in contraction GO:0086002 9.8 CACNA1C KCNE1 KCNE2 SCN5A
7 potassium ion export across plasma membrane GO:0097623 9.78 KCNE1 KCNE2 KCNH2 KCNQ1
8 regulation of potassium ion transmembrane transport GO:1901379 9.76 KCNE1 KCNE2 KCNH2
9 membrane repolarization GO:0086009 9.76 KCNE1 KCNE2 KCNH2 KCNQ1
10 positive regulation of potassium ion transmembrane transport GO:1901381 9.75 KCNE1 KCNH2 KCNQ1
11 cellular response to epinephrine stimulus GO:0071872 9.74 KCNQ1 RYR2 SLC9A1
12 regulation of membrane repolarization GO:0060306 9.73 KCNE2 KCNH2 KCNQ1
13 cardiac muscle contraction GO:0060048 9.73 KCNH2 KCNQ1 NKX2-5 RYR2 SCN5A TNNT2
14 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.72 CACNA1C DSP RYR2
15 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.72 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
16 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.71 KCNE1 KCNH2 KCNQ1
17 membrane repolarization during action potential GO:0086011 9.71 KCNE1 KCNE2 KCNH2 KCNQ1
18 cardiac muscle cell differentiation GO:0055007 9.69 NKX2-5 SLC9A1
19 positive regulation of heart rate GO:0010460 9.69 KCNQ1 RYR2
20 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.68 CACNA1C RYR2
21 regulation of cardiac muscle contraction GO:0055117 9.68 NKX2-5 RYR2
22 cardiovascular system development GO:0072358 9.68 KCNQ1 NKX2-5
23 membrane depolarization during action potential GO:0086010 9.68 KCNH2 SCN5A
24 positive regulation of sodium ion transport GO:0010765 9.67 NKX2-5 SCN5A
25 response to muscle stretch GO:0035994 9.67 RYR2 SLC9A1
26 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.67 KCNE1 KCNE2
27 calcium ion transport into cytosol GO:0060402 9.66 CACNA1C RYR2
28 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.66 CACNA1C RYR2
29 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.65 CACNA1C SCN5A
30 atrial cardiac muscle cell action potential GO:0086014 9.65 KCNQ1 SCN5A
31 regulation of cardiac muscle contraction by calcium ion signaling GO:0010882 9.64 RYR2 SLC9A1
32 regulation of delayed rectifier potassium channel activity GO:1902259 9.63 KCNE1 KCNE2
33 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.63 KCNQ1 SCN5A
34 membrane depolarization during AV node cell action potential GO:0086045 9.62 CACNA1C SCN5A
35 membrane repolarization during atrial cardiac muscle cell action potential GO:0098914 9.62 KCNJ5 KCNQ1
36 positive regulation of action potential GO:0045760 9.61 SCN5A SLC9A1
37 positive regulation of the force of heart contraction GO:0098735 9.61 RYR2 SLC9A1
38 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.6 CACNA1C SCN5A
39 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.55 KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
40 ventricular cardiac muscle cell action potential GO:0086005 9.43 KCNE1 KCNE2 KCNH2 KCNQ1 RYR2 SCN5A
41 regulation of heart rate by cardiac conduction GO:0086091 9.23 CACNA1C DSP KCNE1 KCNE2 KCNH2 KCNJ5
42 ion transport GO:0006811 10.09 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
43 transmembrane transport GO:0055085 10.07 CACNA1C KCNH2 KCNQ1 RYR2 SCN5A SLC9A1

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

Sources for Ventricular Fibrillation, Paroxysmal Familial, 1

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
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31 HGMD
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34 ICD10
35 ICD10 via Orphanet
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70 SNOMED-CT via HPO
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