Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
VF1
MCID: VNT034
MIFTS: 65

Ventricular Fibrillation, Paroxysmal Familial, 1 (VF1)

Categories: Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Ventricular Fibrillation, Paroxysmal Familial, 1

About this section

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:

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


External Ids:

OMIM 58 603829
MeSH 45 D014693
MedGen 43 C2751898
Sources

Summaries for Ventricular Fibrillation, Paroxysmal Familial, 1

About this section
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 Heparin 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...

Sources

Related Diseases for Ventricular Fibrillation, Paroxysmal Familial, 1

About this section

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 305)
# Related Disease Score Top Affiliating Genes
1 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 32.7 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 30.7 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 hypertrophic cardiomyopathy 30.2 CACNA1C DSP RYR2 SCN5A TNNT2
9 arrhythmogenic right ventricular cardiomyopathy 30.1 DSP KCNH2 RYR2 SCN5A
10 atrial fibrillation 30.0 KCNE1 KCNE2 KCNH2 KCNQ1 RYR2 SCN5A
11 cardiac arrest 29.9 DSP KCNH2 KCNQ1 RYR2 SCN5A TNNT2
12 short qt syndrome 29.6 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1
13 sudden infant death syndrome 29.6 KCNH2 KCNQ1 RYR2 SCN5A
14 brugada syndrome 29.5 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
15 atrioventricular block 29.5 KCNE1 KCNE2 KCNH2 KCNQ1 NKX2-5 SCN5A
16 timothy syndrome 29.4 CACNA1C KCNE1 KCNH2 KCNQ1
17 long qt syndrome 29.3 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
18 heart disease 29.3 CACNA1C DSP KCNE2 KCNH2 KCNQ1 NKX2-5
19 left ventricular noncompaction 29.3 DSP KCNQ1 NKX2-5 RYR2 SCN5A TNNT2
20 myocardial stunning 29.3 KCNJ5 SLC9A1
21 dilated cardiomyopathy 29.0 CACNA1C CHKB DSP KCNH2 KCNQ1 NKX2-5
22 early repolarization associated with ventricular fibrillation 12.6
23 ventricular fibrillation, paroxysmal familial, 2 12.5
24 idiopathic ventricular fibrillation, non brugada type 12.4
25 ventricular tachycardia, catecholaminergic polymorphic, 2 11.7
26 ventricular tachycardia, catecholaminergic polymorphic, 4 11.7
27 premature ovarian failure 1 11.6
28 polycystic ovary syndrome 11.5
29 paroxysmal ventricular fibrillation 11.1
30 ventricular tachycardia, familial 11.1
31 cardiomyopathy, infantile histiocytoid 11.1
32 cardiac arrhythmia, ankyrin-b-related 11.1
33 ischemia 10.8
34 ovarian hyperstimulation syndrome 10.6
35 infertility 10.5
36 endometriosis 10.5
37 wolff-parkinson-white syndrome 10.5
38 rere-related disorders 10.4
39 familial progressive cardiac conduction defect 10.4 NKX2-5 SCN5A
40 refractory anemia 10.3
41 arteries, anomalies of 10.3
42 coronary artery anomaly 10.3
43 hypokalemia 10.3
44 ectopic pregnancy 10.3
45 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.3 DSP RYR2
46 progressive familial heart block, type ia 10.3
47 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.3 DSP RYR2
48 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.3 DSP RYR2
49 progressive familial heart block, type ib 10.3
50 coronary artery vasospasm 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
Sources

Symptoms & Phenotypes for Ventricular Fibrillation, Paroxysmal Familial, 1

About this section

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
Sources

Drugs & Therapeutics for Ventricular Fibrillation, Paroxysmal Familial, 1

About this section

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

(show top 50) (show all 319)
# 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
Heparin Approved, Investigational Phase 4,Phase 3 9005-49-6 772 46507594
3
Ticagrelor Approved Phase 4 274693-27-5 9871419
4
Nicorandil Approved, Investigational Phase 4 65141-46-0 47528
5
Amiodarone Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 1951-25-3 2157
6
Sotalol Approved Phase 4,Phase 3 3930-20-9, 959-24-0 5253
7
Eplerenone Approved Phase 4,Phase 3 107724-20-9 150310 443872
8
Lisinopril Approved, Investigational Phase 4 83915-83-7, 76547-98-3 5362119
9
Enalapril Approved, Vet_approved Phase 4 75847-73-3 5362032 40466924
10
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
11
Candesartan cilexetil Approved Phase 4 145040-37-5 2540
12
Enalaprilat Approved Phase 4 76420-72-9 6917719
13
Ramipril Approved Phase 4 87333-19-5 5362129
14
Bisoprolol Approved Phase 4,Phase 3 66722-44-9 2405
15
Captopril Approved Phase 4 62571-86-2 44093
16
Nebivolol Approved, Investigational Phase 4 118457-14-0, 99200-09-6, 152520-56-4 71301
17
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
18
Metoprolol Approved, Investigational Phase 4,Phase 2 37350-58-6, 51384-51-1 4171
19
Spironolactone Approved Phase 4 52-01-7, 1952-01-7 5833
20
Dobutamine Approved Phase 4 34368-04-2 36811
21 Grape Approved Phase 4
22
Atorvastatin Approved Phase 4 134523-00-5 60823
23
Epinephrine Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 51-43-4 5816
24
Racepinephrine Approved Phase 4,Phase 3,Phase 2,Not Applicable 329-65-7 838
25
Dexmedetomidine Approved, Vet_approved Phase 4,Not Applicable 113775-47-6 68602 5311068
26
Midazolam Approved, Illicit Phase 4,Phase 2 59467-70-8 4192
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
Furosemide Approved, Vet_approved Phase 4,Not Applicable 54-31-9 3440
30
Nitroprusside Approved, Investigational Phase 4 15078-28-1 11963622
31
Nitric Oxide Approved Phase 4 10102-43-9 145068
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
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
37
Polyestradiol phosphate Approved Phase 4 28014-46-2
38
Tazobactam Approved Phase 4 89786-04-9 123630
39
Levofloxacin Approved, Investigational Phase 4 100986-85-4 149096
40
Hydrocortisone acetate Approved, Vet_approved Phase 4,Phase 3 50-03-3
41
Ofloxacin Approved Phase 4 82419-36-1 4583
42
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
43
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
44
Clavulanate Approved, Vet_approved Phase 4 58001-44-8 5280980
45
Ceftriaxone Approved Phase 4 73384-59-5 5479530 5361919
46
Norgestimate Approved, Investigational Phase 4 35189-28-7 6540478
47
Ceftaroline fosamil Approved, Investigational Phase 4 229016-73-3
48
Azithromycin Approved Phase 4 83905-01-5 55185 447043
49
Clarithromycin Approved Phase 4 81103-11-9 84029
50
Hydrocortisone Approved, Vet_approved Phase 4,Phase 3 50-23-7 5754

Interventional clinical trials:

(show top 50) (show all 351)
# 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 DEXMEDETOMÄ°DÄ°NE AND MÄ°DAZOLAM SEDATÄ°ON ON HEART RATE VARÄ°ABÄ°LÄ°TY 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 Not yet 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

Sources

Genetic Tests for Ventricular Fibrillation, Paroxysmal Familial, 1

About this section

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

# Genetic test Affiliating Genes
1 Paroxysmal Familial Ventricular Fibrillation 1 30 SCN5A
Sources

Anatomical Context for Ventricular Fibrillation, Paroxysmal Familial, 1

About this section

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

42
Testes, Kidney, Brain, Heart, Skin, Bone, Thyroid
Sources

Publications for Ventricular Fibrillation, Paroxysmal Familial, 1

About this section

Articles related to Ventricular Fibrillation, Paroxysmal Familial, 1:

(show top 50) (show all 3051)
# 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
Patients With Refractory Out-of-Cardiac Arrest and Sustained Ventricular Fibrillation as Candidates for Extracorporeal Cardiopulmonary Resuscitation　- Prospective Multi-Center Observational Study. ( 30890669 )
2019
3
Effectiveness of Prehospital Dual Sequential Defibrillation for Refractory Ventricular Fibrillation and Ventricular Tachycardia Cardiac Arrest. ( 30773983 )
2019
4
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
5
The association of chronic health status and survival following ventricular fibrillation cardiac arrest: Investigation of a primary myocardial mechanism. ( 30794830 )
2019
6
Ventricular Fibrillation Waveform Analysis During Chest Compressions to Predict Survival From Cardiac Arrest. ( 30626208 )
2019
7
During a paediatric traumatic cardiac arrest, is ventricular fibrillation a reversible cause like any other? ( 30630839 )
2019
8
Authors' response to letter entitled 'During a paediatric traumatic cardiac arrest, is ventricular fibrillation a reversible cause like any other?' ( 30630843 )
2019
9
Prolonged Tpeak-Tend interval is associated with ventricular fibrillation during reperfusion in ST-elevation myocardial infarction. ( 30661844 )
2019
10
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
11
Use of topical lidocaine in eliminating mechanically stimulated ventricular fibrillation in a patient with short QT syndrome. ( 30891413 )
2019
12
Late evolution of arrhythmogenic cardiomyopathy in patients with initial presentation as idiopathic ventricular fibrillation. ( 30693201 )
2019
13
A Slower Heart Rate and Therapeutic Hypothermia Unmasked Early Repolarization Syndrome in a Ventricular Fibrillation Survivor. ( 30464125 )
2019
14
Medical Castration is a Rare but Possible Trigger of Torsade de Pointes and Ventricular Fibrillation. ( 30518719 )
2019
15
Undersensing, asynchronous pacing, and ventricular fibrillation. ( 30726912 )
2019
16
Incessant Idiopathic Ventricular Fibrillation Trigger Originating From an Unusual Intramyocardial (Non-Purkinje) Site Successfully Treated With Catheter Ablation. ( 30784703 )
2019
17
Small Septal Branch Artery Thrombus Inducing Ventricular Fibrillation: To Intervene or Not to Intervene. ( 30799967 )
2019
18
A case of refractory ventricular fibrillation successfully treated with low-dose esmolol. ( 30852502 )
2019
19
'Reply to:' Importance of the distinction between recurrent and shock-resistant ventricular fibrillation: Call for a uniform definition of refractory VF. ( 30876743 )
2019
20
Importance of the distinction between recurrent and shock-resistant ventricular fibrillation: Call for a uniform definition of refractory VF. ( 30876921 )
2019
21
Anthracycline-induced acute myocarditis and ventricular fibrillation arrest. ( 29194712 )
2018
22
Progression of ECG abnormalities Associated with Initial Ventricular Fibrillation in Asymptomatic Patients with Brugada Syndrome. ( 29953954 )
2018
23
The genetics underlying idiopathic ventricular fibrillation: A special role for catecholaminergic polymorphic ventricular tachycardia? ( 29032884 )
2018
24
Ventricular Fibrillation Associated With Dynamic Changes in J-Point Elevation in a Patient With Silent Thyroiditis. ( 29383332 )
2018
25
Right Ventricular Outflow Tract Electroanatomical Abnormalities Predict Ventricular Fibrillation Inducibility in Brugada Syndrome. ( 29437762 )
2018
26
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
27
Impact of the angiographic burden on the incidence of out-of-hospital ventricular fibrillation in patients with acute myocardial infarction. ( 30006656 )
2018
28
A Rare Desmoglein-2 Gene Mutation in Arrhythmogenic Right Ventricular Cardiomyopathy Inciting Incessant Ventricular Fibrillation. ( 30524916 )
2018
29
SCN5A gene mutations and the risk of ventricular fibrillation and syncope in Brugada syndrome patients: A meta-analysis. ( 30327691 )
2018
30
Efficacy of Endocardial Ablation of Drug-Resistant Ventricular Fibrillation in Brugada Syndrome. ( 30354308 )
2018
31
Beyond Advanced Cardiac Life Support: Dual-sequential Defibrillation for Refractory Ventricular Fibrillation after Witnessed Cardiac Arrest in the Emergency Department. ( 30906678 )
2018
32
Repetitive anodal transcranial direct current stimulation improves neurological outcome and survival in a ventricular fibrillation cardiac arrest rat model. ( 30611705 )
2018
33
Double sequential external defibrillation for refractory ventricular fibrillation out-of-hospital cardiac arrest: A systematic review and meta-analysis. ( 30612966 )
2018
34
Ventricular Fibrillation Cardiac Arrest in African American Male with Apical Hypertrophic Cardiomyopathy. ( 30430056 )
2018
35
Evaluation of recurrent ventricular tachyarrhythmias in patients who survived out-of-hospital cardiac arrest due to ventricular fibrillation: eligibility for subcutaneous implantable defibrillator therapy. ( 30478809 )
2018
36
Surviving refractory out-of-hospital ventricular fibrillation cardiac arrest: Critical care and extracorporeal membrane oxygenation management. ( 30171974 )
2018
37
Ventricular fibrillation recorded and analysed within an area the size of a mobile phone: could it enable cardiac arrest recognition? ( 30239348 )
2018
38
Association between ventricular fibrillation amplitude immediately prior to defibrillation and defibrillation success in out-of-hospital cardiac arrest. ( 29910058 )
2018
39
Initial Phase NT-proBNP, but Not Copeptin and High-Sensitivity Cardiac Troponin-T Yielded Diagnostic and Prognostic Information in Addition to Clinical Assessment of Out-of-Hospital Cardiac Arrest Patients With Documented Ventricular Fibrillation. ( 29930943 )
2018
40
The Heart Sentinelâ„¢ app for detection and automatic alerting in cardiac arrest during outdoor sports: Field tests and ventricular fibrillation simulation results. ( 30025655 )
2018
41
Hands-On Defibrillation Skills of Pediatric Acute Care Providers During a Simulated Ventricular Fibrillation Cardiac Arrest Scenario. ( 29740571 )
2018
42
Out-of-Hospital Cardiac Arrest Due to Ventricular Fibrillation in a 5-Year-Old Pediatric Patient. ( 29489604 )
2018
43
Characteristics and clinical assessment of unexplained sudden cardiac arrest in the real-world setting: focus on idiopathic ventricular fibrillation. ( 29566157 )
2018
44
Rhythm profiles and survival after out-of-hospital ventricular fibrillation cardiac arrest. ( 29408303 )
2018
45
Out-of-hospital cardiac arrest due to ventricular fibrillation in children-A call to action. ( 28917566 )
2018
46
Establishing a Rodent Model of Ventricular Fibrillation Cardiac Arrest With Graded Histologic and Neurologic Damage With Different Cardiac Arrest Durations. ( 28968287 )
2018
47
Comparison of Quantitative Characteristics of Early Post-resuscitation EEG Between Asphyxial and Ventricular Fibrillation Cardiac Arrest in Rats. ( 28484928 )
2018
48
Ventricular Fibrillation Induced by Coronary Vasospasm in a Patient with Early Repolarization and Hyperthyroidism. ( 30101915 )
2018
49
Hypertrophic cardiomyopathy: Ischemia progressing to ventricular fibrillation. ( 30228960 )
2018
50
Ibutilide for the Control of Refractory Ventricular Tachycardia and Ventricular Fibrillation in Patients with Myocardial Ischemia and Hemodynamic Instability. ( 30580467 )
2018
Sources

Variations for Ventricular Fibrillation, Paroxysmal Familial, 1

About this section

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 76)
# Gene Variation Type Significance SNP ID Assembly Location
1 JUP NM_002230.2(JUP): c.2069A> G (p.Asn690Ser) single nucleotide variant Uncertain significance rs147628503 GRCh37 Chromosome 17, 39912444: 39912444
2 JUP NM_002230.2(JUP): c.2069A> G (p.Asn690Ser) single nucleotide variant Uncertain significance rs147628503 GRCh38 Chromosome 17, 41756192: 41756192
3 ACTN2 NM_001278343.1(ACTN2): c.82C> T (p.Arg28Cys) single nucleotide variant Uncertain significance rs730880040 GRCh37 Chromosome 1, 236850055: 236850055
4 ACTN2 NM_001278343.1(ACTN2): c.82C> T (p.Arg28Cys) single nucleotide variant Uncertain significance rs730880040 GRCh38 Chromosome 1, 236686755: 236686755
5 RYR2 NM_001035.2(RYR2): c.14635C> A (p.Gln4879Lys) single nucleotide variant Uncertain significance rs730880200 GRCh37 Chromosome 1, 237991725: 237991725
6 RYR2 NM_001035.2(RYR2): c.14635C> A (p.Gln4879Lys) single nucleotide variant Uncertain significance rs730880200 GRCh38 Chromosome 1, 237828425: 237828425
7 DSP NM_004415.3(DSP): c.6812A> C (p.Lys2271Thr) single nucleotide variant Uncertain significance rs730880089 GRCh37 Chromosome 6, 7584307: 7584307
8 DSP NM_004415.3(DSP): c.6812A> C (p.Lys2271Thr) single nucleotide variant Uncertain significance rs730880089 GRCh38 Chromosome 6, 7584074: 7584074
9 KCNH2 NM_000238.3(KCNH2): c.473-7C> T single nucleotide variant Likely benign rs146570628 GRCh37 Chromosome 7, 150655597: 150655597
10 KCNH2 NM_000238.3(KCNH2): c.473-7C> T single nucleotide variant Likely benign rs146570628 GRCh38 Chromosome 7, 150958509: 150958509
11 AKAP9 NM_005751.4(AKAP9): c.3580G> A (p.Ala1194Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs139965373 GRCh37 Chromosome 7, 91643610: 91643610
12 AKAP9 NM_005751.4(AKAP9): c.3580G> A (p.Ala1194Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs139965373 GRCh38 Chromosome 7, 92014296: 92014296
13 RBM20 NM_001134363.2(RBM20): c.3067G> T (p.Asp1023Tyr) single nucleotide variant Uncertain significance rs730880186 GRCh37 Chromosome 10, 112581444: 112581444
14 RBM20 NM_001134363.2(RBM20): c.3067G> T (p.Asp1023Tyr) single nucleotide variant Uncertain significance rs730880186 GRCh38 Chromosome 10, 110821686: 110821686
15 CACNB2 NM_201596.2(CACNB2): c.1056G> A (p.Ala352=) single nucleotide variant Uncertain significance rs730880058 GRCh37 Chromosome 10, 18823006: 18823006
16 CACNB2 NM_201596.2(CACNB2): c.1056G> A (p.Ala352=) single nucleotide variant Uncertain significance rs730880058 GRCh38 Chromosome 10, 18534077: 18534077
17 VCL NM_014000.2(VCL): c.2050A> G (p.Arg684Gly) single nucleotide variant Uncertain significance rs730880249 GRCh37 Chromosome 10, 75863605: 75863605
18 VCL NM_014000.2(VCL): c.2050A> G (p.Arg684Gly) single nucleotide variant Uncertain significance rs730880249 GRCh38 Chromosome 10, 74103847: 74103847
19 PKP2 NM_004572.3(PKP2): c.1974A> G (p.Gln658=) single nucleotide variant Conflicting interpretations of pathogenicity rs138901574 GRCh37 Chromosome 12, 32974461: 32974461
20 PKP2 NM_004572.3(PKP2): c.1974A> G (p.Gln658=) single nucleotide variant Conflicting interpretations of pathogenicity rs138901574 GRCh38 Chromosome 12, 32821527: 32821527
21 JUP NM_002230.2(JUP): c.1807G> T (p.Val603Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs200327969 GRCh38 Chromosome 17, 41757751: 41757751
22 JUP NM_002230.2(JUP): c.1807G> T (p.Val603Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs200327969 GRCh37 Chromosome 17, 39914003: 39914003
23 SCN1B NM_001037.4(SCN1B): c.448+112G> A single nucleotide variant Conflicting interpretations of pathogenicity rs72558026 GRCh38 Chromosome 19, 35033851: 35033851
24 SCN1B NM_001037.4(SCN1B): c.448+112G> A single nucleotide variant Conflicting interpretations of pathogenicity rs72558026 GRCh37 Chromosome 19, 35524755: 35524755
25 TRPM4 NM_017636.3(TRPM4): c.1682A> C (p.Asp561Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs56355369 GRCh38 Chromosome 19, 49183151: 49183151
26 TRPM4 NM_017636.3(TRPM4): c.1682A> C (p.Asp561Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs56355369 GRCh37 Chromosome 19, 49686408: 49686408
27 SNTA1 NM_003098.2(SNTA1): c.1210G> A (p.Ala404Thr) single nucleotide variant Uncertain significance rs730880217 GRCh37 Chromosome 20, 31997968: 31997968
28 SNTA1 NM_003098.2(SNTA1): c.1210G> A (p.Ala404Thr) single nucleotide variant Uncertain significance rs730880217 GRCh38 Chromosome 20, 33410162: 33410162
29 SNTA1 NM_003098.2(SNTA1): c.589C> T (p.Arg197Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs530603992 GRCh37 Chromosome 20, 32005637: 32005637
30 SNTA1 NM_003098.2(SNTA1): c.589C> T (p.Arg197Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs530603992 GRCh38 Chromosome 20, 33417831: 33417831
31 AKAP9 NM_005751.4(AKAP9): c.4825_4826delAGinsCA (p.Arg1609Gln) indel Conflicting interpretations of pathogenicity rs786205707 GRCh38 Chromosome 7, 92040806: 92040807
32 AKAP9 NM_005751.4(AKAP9): c.4825_4826delAGinsCA (p.Arg1609Gln) indel Conflicting interpretations of pathogenicity rs786205707 GRCh37 Chromosome 7, 91670120: 91670121
33 KCNJ2 NM_000891.2(KCNJ2): c.973C> T (p.Arg325Cys) single nucleotide variant Uncertain significance rs202067116 GRCh38 Chromosome 17, 70176012: 70176012
34 KCNJ2 NM_000891.2(KCNJ2): c.973C> T (p.Arg325Cys) single nucleotide variant Uncertain significance rs202067116 GRCh37 Chromosome 17, 68172153: 68172153
35 RYR2 NM_001035.2(RYR2): c.1258C> T (p.Arg420Trp) single nucleotide variant Pathogenic rs190140598 GRCh38 Chromosome 1, 237445488: 237445488
36 RYR2 NM_001035.2(RYR2): c.1258C> T (p.Arg420Trp) single nucleotide variant Pathogenic rs190140598 GRCh37 Chromosome 1, 237608788: 237608788
37 PKP2 NM_004572.3(PKP2): c.964G> T (p.Gly322Cys) single nucleotide variant Uncertain significance rs200069860 GRCh38 Chromosome 12, 32877916: 32877916
38 PKP2 NM_004572.3(PKP2): c.964G> T (p.Gly322Cys) single nucleotide variant Uncertain significance rs200069860 GRCh37 Chromosome 12, 33030850: 33030850
39 KCNE3 NM_005472.4(KCNE3): c.248G> A (p.Arg83His) single nucleotide variant Conflicting interpretations of pathogenicity rs17215437 GRCh37 Chromosome 11, 74168361: 74168361
40 KCNE3 NM_005472.4(KCNE3): c.248G> A (p.Arg83His) single nucleotide variant Conflicting interpretations of pathogenicity rs17215437 GRCh38 Chromosome 11, 74457316: 74457316
41 SCN5A NM_000335.4(SCN5A): c.5126C> T (p.Ser1709Leu) single nucleotide variant Pathogenic/Likely pathogenic rs137854604 GRCh37 Chromosome 3, 38592734: 38592734
42 SCN5A NM_000335.4(SCN5A): c.5126C> T (p.Ser1709Leu) single nucleotide variant Pathogenic/Likely pathogenic rs137854604 GRCh38 Chromosome 3, 38551243: 38551243
43 RYR2 NM_001035.2(RYR2): c.2267G> A (p.Ser756Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs193922623 GRCh37 Chromosome 1, 237664074: 237664074
44 RYR2 NM_001035.2(RYR2): c.2267G> A (p.Ser756Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs193922623 GRCh38 Chromosome 1, 237500774: 237500774
45 MYH7 NM_000257.4(MYH7): c.3337-3dup duplication Benign rs45504498 GRCh37 Chromosome 14, 23889446: 23889446
46 MYH7 NM_000257.4(MYH7): c.3337-3dup duplication Benign rs45504498 GRCh38 Chromosome 14, 23420237: 23420237
47 RBM20 NM_001134363.2(RBM20): c.2565_2570delACAGGA (p.Gln856_Glu857del) deletion Uncertain significance rs397516603 GRCh37 Chromosome 10, 112579844: 112579849
48 RBM20 NM_001134363.2(RBM20): c.2565_2570delACAGGA (p.Gln856_Glu857del) deletion Uncertain significance rs397516603 GRCh38 Chromosome 10, 110820086: 110820091
49 TTN NM_001256850.1(TTN): c.32562_32564dup (p.Glu10855_Tyr10856insGlu) duplication Conflicting interpretations of pathogenicity rs368327166 GRCh37 Chromosome 2, 179544686: 179544688
50 TTN NM_001256850.1(TTN): c.32562_32564dup (p.Glu10855_Tyr10856insGlu) duplication Conflicting interpretations of pathogenicity rs368327166 GRCh38 Chromosome 2, 178679959: 178679961
Sources

Expression for Ventricular Fibrillation, Paroxysmal Familial, 1

About this section
Search GEO for disease gene expression data for Ventricular Fibrillation, Paroxysmal Familial, 1.
Sources

Pathways for Ventricular Fibrillation, Paroxysmal Familial, 1

About this section

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

(show all 14)
# Super pathways Score Top Affiliating Genes
1
DAG and IP3 signaling 67
Show member pathways
 12.8 CACNA1C NGF RYR2 SLC9A1 TNNT2
2
Aldosterone synthesis and secretion 38
Show member pathways
 12.62 CACNA1C KCNE1 KCNJ5 KCNQ1 RYR2 SCN5A
3
Cardiac conduction 67
Show member pathways
 12.34 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1 NKX2-5
4
Dopamine-DARPP32 Feedback onto cAMP Pathway 65
12.15 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
5
Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways 1
11.98 KCNH2 KCNQ1 NGF RYR2 SCN5A
6
Dilated cardiomyopathy (DCM) 38
Show member pathways
 11.96 CACNA1C RYR2 TNNT2
7
Salivary secretion 38
Show member pathways
 11.92 KCNE2 KCNQ1 SLC9A1
8
Potassium Channels 67
Show member pathways
 11.86 KCNH2 KCNJ5 KCNQ1
9
Pancreatic secretion 38
11.62 KCNQ1 RYR2 SLC9A1
10
Cardiac muscle contraction 38
11.6 CACNA1C RYR2 SLC9A1 TNNT2
11
Phase 0 - rapid depolarisation 67
Show member pathways
 11.53 CACNA1C KCNE1 KCNE2 KCNQ1 SCN5A
12
Cardiac Progenitor Differentiation 1
11.33 NKX2-5 SCN5A TNNT2
13
Antiarrhythmic Pathway, Pharmacodynamics 62
11.02 CACNA1C DSP KCNE1 KCNE2 KCNH2 KCNJ5
14
TarBasePathway 1
10.76 KCNE1 KCNQ1
Sources

GO Terms for Ventricular Fibrillation, Paroxysmal Familial, 1

About this section

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

Sources for Ventricular Fibrillation, Paroxysmal Familial, 1

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