Familial Atrial Fibrillation disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

ATFB MCID: FML001 MIFTS: 67	Familial Atrial Fibrillation (ATFB) Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases	Data Licensing For inquiries, contact: [email protected]
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Aliases & Classifications for Familial Atrial Fibrillation

MalaCards integrated aliases for Familial Atrial Fibrillation:

Name: Familial Atrial Fibrillation ¹¹ ¹⁹ ⁴² ⁵⁸ ²⁸ ⁵ ¹⁴ ⁷¹ ⁷⁵

Atrial Fibrillation, Familial ¹⁹ ⁴² ⁵³

Atfb ¹¹ ¹⁹

Atrial Fibrillation Autosomal Dominant ¹⁹

Autosomal Dominant Atrial Fibrillation ¹⁹

Atrial Fibrillation, Familial, 1 ⁷¹

Auricular Fibrillation ⁴²

Atrial Fibrillation ⁷¹

Characteristics:

Inheritance:

Autosomal dominant ⁵⁸

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Cardiovascular diseases Respiratory diseases Blood diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:0050650

ICD10 via Orphanet ³² I48.9

Orphanet ⁵⁸ ORPHA334

UMLS ⁷¹ C0004238 C1843687 C3468561

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Summaries for Familial Atrial Fibrillation

GARD: ¹⁹ Familial atrial fibrillation is an inherited heart condition that disrupts the heart's rhythm. It is characterized by erratic electrical activity in the heart's upper chambers (the atria), causing an irregular response in the heart's lower chambers (the ventricles). This causes a fast and irregular heartbeat (arrhythmia). Symptoms may include dizziness, chest pain, palpitations, shortness of breath, or fainting. The disease also causes an increased risk of stroke.. While complications may occur at any age, some people never have associated health problems. Familial atrial fibrillation may be caused by changes in any of various genes, some of which have not been identified. It is most often inherited in an autosomal dominant manner, but autosomal recessive inheritance has been reported.

MalaCards based summary: Familial Atrial Fibrillation, also known as atrial fibrillation, familial, is related to atrial fibrillation and long qt syndrome, and has symptoms including angina pectoris, chest pain and edema. An important gene associated with Familial Atrial Fibrillation is MYL4 (Myosin Light Chain 4), and among its related pathways/superpathways are Cardiac conduction and G-Beta Gamma Signaling. The drugs Hydroxychloroquine and Ranolazine have been mentioned in the context of this disorder. Affiliated tissues include heart, atrioventricular node and brain, and related phenotypes are muscle and cardiovascular system

MedlinePlus Genetics: ⁴² Familial atrial fibrillation is an inherited abnormality of the heart's normal rhythm. Atrial fibrillation is characterized by episodes of uncoordinated electrical activity (fibrillation) in the heart's upper chambers (the atria), which cause a fast and irregular heartbeat. If untreated, this abnormal heart rhythm (arrhythmia) can lead to dizziness, chest pain, a sensation of fluttering or pounding in the chest (palpitations), shortness of breath, or fainting (syncope). Atrial fibrillation also increases the risk of stroke and sudden death. Complications of atrial fibrillation can occur at any age, although some people with this heart condition never experience any health problems associated with the disorder.

Orphanet: ⁵⁸ Familial atrial fibrillation is a rare, genetically heterogenous cardiac disease characterized by erratic activation of the atria with an irregular ventricular response, in various members of a single family. It may be asymptomatic or associated with palpitations, dyspnea and light-headedness. Concomitant rhythm disorders and cardiomyopathies are frequently reported.

Disease Ontology: ¹¹ An atrial fibrillation that has material basis in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes.

Wikipedia: ⁷⁵ Familial atrial fibrillation is an autosomal dominant heart condition that causes disruptions in the... more...

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Related Diseases for Familial Atrial Fibrillation

Diseases in the Atrial Fibrillation family:

Atrial Fibrillation, Familial, 3	Atrial Fibrillation, Familial, 1
Atrial Fibrillation, Familial, 2	Atrial Fibrillation, Familial, 4
Atrial Fibrillation, Familial, 5	Atrial Fibrillation, Familial, 6
Atrial Fibrillation, Familial, 7	Atrial Fibrillation, Familial, 8
Atrial Fibrillation, Familial, 9	Atrial Fibrillation, Familial, 10
Atrial Fibrillation, Familial, 11	Atrial Fibrillation, Familial, 12
Atrial Fibrillation, Familial, 13	Atrial Fibrillation, Familial, 14
Atrial Fibrillation, Familial, 15	Atrial Fibrillation, Familial, 18
Familial Atrial Fibrillation

Diseases related to Familial Atrial Fibrillation via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 183)

#	Related Disease	Score	Top Affiliating Genes
1	atrial fibrillation	31.9	SCN5A SCN4B SCN3B SCN2B PITX2 NUP155
2	long qt syndrome	31.3	SCN5A SCN4B SCN3B SCN2B NKX2-5 KCNQ1
3	ventricular fibrillation, paroxysmal familial, 1	31.1	SCN5A KCNQ1 KCNE2
4	sick sinus syndrome	31.1	SCN5A SCN3B NPPA GJA5
5	third-degree atrioventricular block	31.0	SCN5A NUP155 NKX2-5 KCNQ1 KCNJ2 KCNE2
6	brugada syndrome	31.0	SCN5A SCN4B SCN3B SCN2B PITX2 NUP155
7	long qt syndrome 1	30.9	SCN5A SCN4B SCN3B SCN2B NKX2-5 KCNQ1
8	congestive heart failure	30.9	SCN5A NPPA KCNQ1 KCNJ2 KCNE2 GATA4
9	dilated cardiomyopathy	30.9	SCN5A SCN4B SCN3B NPPA NKX2-5 MYL4
10	progressive familial heart block	30.8	SCN5A KCNQ1 GJA5
11	long qt syndrome 6	30.7	SCN5A SCN4B KCNQ1 KCNJ2 KCNE2
12	short qt syndrome	30.7	SCN5A SCN4B SCN3B KCNQ1 KCNJ2 KCNE2
13	atrioventricular block	30.7	SCN5A NKX2-5 KCNQ1 KCNJ2 KCNE2 GJA5
14	long qt syndrome 10	30.7	SCN5A SCN4B KCNJ2 KCNE2
15	jervell and lange-nielsen syndrome 1	30.7	SCN5A SCN4B KCNQ1 KCNJ2 KCNE2
16	syncope	30.7	SCN5A NPPA KCNQ1
17	wolff-parkinson-white syndrome	30.7	SCN5A NKX2-5 KCNQ1 GJA5
18	patent ductus arteriosus 1	30.7	PITX2 NKX2-5 GATA6 GATA5 GATA4
19	cardiac conduction defect	30.7	SCN5A KCNQ1
20	atrial fibrillation, familial, 1	30.6	PITX2 ATFB1
21	progressive familial heart block, type ia	30.6	SCN5A GJA5
22	ebstein anomaly	30.6	SCN5A NKX2-5 GJA5 GATA4
23	heart septal defect	30.6	PITX2 NPPA NKX2-5 GJA5 GATA6 GATA5
24	atrial heart septal defect	30.6	SCN5A PITX2 NPPA NKX2-5 GJA5 GATA6
25	aortic valve disease 1	30.5	NKX2-5 KCNJ2 GATA6 GATA5 GATA4
26	atrial fibrillation, familial, 15	11.6
27	brugada syndrome 7	11.6
28	atrial fibrillation, familial, 11	11.2
29	atrial fibrillation, familial, 12	11.2
30	atrial fibrillation, familial, 13	11.2
31	atrial fibrillation, familial, 14	11.2
32	mitral valve stenosis	10.6
33	long qt syndrome 12	10.5	SCN5A SCN4B KCNQ1 KCNJ2 KCNE2
34	long qt syndrome 13	10.5	SCN5A SCN4B KCNQ1 KCNJ2 KCNE2
35	sinoatrial node disease	10.5	SCN5A SCN3B NKX2-5 KCNQ1 KCNJ2 KCNE2
36	long qt syndrome 5	10.5	SCN5A SCN4B KCNQ1 KCNJ2 KCNE2
37	long qt syndrome 9	10.5	SCN5A SCN4B KCNQ1 KCNJ2 KCNE2
38	long qt syndrome 2	10.5	SCN5A SCN4B SCN3B KCNQ1 KCNJ2 KCNE2
39	long qt syndrome 3	10.5	SCN5A SCN4B SCN3B KCNQ1 KCNJ2 KCNE2
40	timothy syndrome	10.5	SCN5A SCN4B KCNQ1 KCNJ2 KCNE2
41	andersen cardiodysrhythmic periodic paralysis	10.5	SCN5A SCN4B KCNQ1 KCNJ2 KCNE2
42	long qt syndrome 14	10.5	SCN5A SCN4B KCNQ1 KCNJ2
43	cardiac arrhythmia, ankyrin-b-related	10.5	SCN5A SCN4B KCNQ1 KCNJ2 KCNE2
44	long qt syndrome 11	10.5	SCN4B KCNQ1 KCNJ2 KCNE2
45	brugada syndrome 4	10.5	SCN5A KCNQ1 KCNJ2
46	first-degree atrioventricular block	10.5	SCN5A KCNJ2 GJA5
47	atrial standstill	10.5	SCN5A NPPA GJA5
48	catecholaminergic polymorphic ventricular tachycardia	10.5	SCN5A SCN4B SCN3B SCN2B KCNQ1 KCNJ2
49	hypokalemic periodic paralysis, type 1	10.5	SCN5A SCN4B KCNQ1 KCNJ2
50	intrinsic cardiomyopathy	10.5	SCN5A SCN4B NPPA NKX2-5 KCNQ1 KCNJ2

Comorbidity relations with Familial Atrial Fibrillation via Phenotypic Disease Network (PDN): (show top 50) (show all 174)

Accessory Nerve Disease	Acquired Polycythemia
Acquired Thrombocytopenia	Active Peptic Ulcer Disease
Acute Conjunctivitis	Acute Cor Pulmonale
Acute Cystitis	Acute Kidney Failure
Acute Myocardial Infarction	Acute Vascular Insufficiency of Intestine
Alcohol Use Disorder	Alcoholic Cardiomyopathy
Alcoholic Liver Cirrhosis	Amyloidosis
Anemia, Autoimmune Hemolytic	Anthracosis
Anxiety	Aortic Aneurysm
Aortic Atherosclerosis	Aortic Valve Disease 1
Aortic Valve Disease 2	Aortic Valve Insufficiency
Asbestosis	Asthma
Atrial Tachyarrhythmia with Short Pr Interval	Atrioventricular Block
Bacteremia 2	Basilar Artery Insufficiency
Benign Essential Hypertension	Bleeding Disorder, Platelet-Type, 11
Blepharitis	Bronchiectasis
Bronchitis	Bronchopneumonia
Candidiasis	Cardiac Arrest
Cardiogenic Shock	Cerebral Atherosclerosis
Cerebral Degeneration	Cerebrovascular Disease
Cholangitis	Cholecystitis
Chronic Intestinal Vascular Insufficiency	Chronic Kidney Disease
Chronic Pulmonary Heart Disease	Chronic Rheumatic Pericarditis
Chronic Ulcer of Skin	Colorectal Cancer
Conjunctivitis	Constrictive Pericarditis

Graphical network of the top 20 diseases related to Familial Atrial Fibrillation:

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Symptoms & Phenotypes for Familial Atrial Fibrillation

UMLS symptoms related to Familial Atrial Fibrillation:

angina pectoris; chest pain; edema

MGI Mouse Phenotypes related to Familial Atrial Fibrillation:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	muscle	MP:0005369	10.03	GATA4 GATA5 GATA6 GJA5 KCNA5 KCNJ2
2	cardiovascular system	MP:0005385	9.8	GATA4 GATA5 GATA6 GJA5 KCNA5 KCNJ2
3	digestive/alimentary	MP:0005381	9.76	GATA4 GATA5 GJA5 KCNE2 KCNJ2 KCNQ1
4	respiratory system	MP:0005388	9.17	GATA4 GATA6 GJA5 KCNJ2 NKX2-5 PITX2

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Drugs & Therapeutics for Familial Atrial Fibrillation

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

(show top 50) (show all 379)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Hydroxychloroquine

Approved

Phase 4

118-42-3

3652

Ranolazine

Approved, Investigational

Phase 4

142387-99-3, 95635-55-5

56959

Bivalirudin

Approved, Investigational

Phase 4

128270-60-0

19797045 16129704

Canrenoic acid

Approved, Withdrawn

Phase 4

4138-96-9

4872

Irbesartan

Approved, Investigational

Phase 4

138402-11-6

3749

Salicylic acid

Approved, Investigational, Vet_approved

Phase 4

69-72-7

338

Carbamide peroxide

Approved

Phase 4

124-43-6

Heparin, bovine

Approved, Investigational, Withdrawn

Phase 4

9005-49-6

22833565 9812414 772

Propofol

Approved, Investigational, Vet_approved

Phase 4

2078-54-8

4943

Bisoprolol

Approved

Phase 4

66722-44-9

2405

Adenosine

Approved, Investigational

Phase 4

58-61-7

60961

Nifedipine

Approved

Phase 4

21829-25-4

4485

Telmisartan

Approved, Investigational

Phase 4

144701-48-4

65999

Ibutilide

Approved

Phase 4

122647-32-9, 122647-31-8

60753

Magnesium sulfate

Approved, Investigational, Vet_approved

Phase 4

7487-88-9

Acenocoumarol

Approved, Investigational

Phase 4

152-72-7

54676537 9052

Phenindione

Approved, Investigational

Phase 4

83-12-5

4760

Procainamide

Approved

Phase 4

51-06-9

4913

Propranolol

Approved, Investigational

Phase 4

318-98-9, 525-66-6

62882 4946

Prednisolone phosphate

Approved, Vet_approved

Phase 4

302-25-0

Prednisolone acetate

Approved, Vet_approved

Phase 4

52-21-1

Prednisolone

Approved, Vet_approved

Phase 4

50-24-8

4894 5755

Methylprednisolone hemisuccinate

Approved

Phase 4

2921-57-5

1875

Methylprednisolone

Approved, Vet_approved

Phase 4

83-43-2

4159 6741

Fluindione

Approved, Investigational

Phase 4

957-56-2

Ezetimibe

Approved

Phase 4

163222-33-1

150311

Nebivolol

Approved, Investigational

Phase 4

152520-56-4, 99200-09-6, 118457-14-0

71301

Dexamethasone acetate

Approved, Investigational, Vet_approved

Phase 4

1177-87-3

3680

Dexamethasone

Approved, Investigational, Vet_approved

Phase 4

50-02-2

3003 5743

Atenolol

Approved

Phase 4

29122-68-7

2249

Acetaminophen

Approved

Phase 4

103-90-2

1983

Antazoline

Approved

Phase 4

91-75-8

2200

Histamine

Approved, Investigational

Phase 4

51-45-6

774

Pantoprazole

Approved

Phase 4

102625-70-7, 138786-67-1

4679

Prednisone

Approved, Vet_approved

Phase 4

53-03-2

5865

Moxonidine

Approved, Investigational

Phase 4

75438-57-2

4810

Ajmaline

Approved, Experimental

Phase 4

4360-12-7

441080

Cathine

Approved, Experimental, Illicit, Vet_approved, Withdrawn

Phase 4

14838-15-4, 492-39-7

131954576 4786 26934

Guaifenesin

Approved, Investigational, Vet_approved

Phase 4

93-14-1

3516

Quinapril

Approved, Investigational

Phase 4

82586-55-8, 85441-61-8

54892

Hydrochlorothiazide

Approved, Vet_approved

Phase 4

58-93-5

3639

Terazosin

Approved

Phase 4

63590-64-7

5401

Rabeprazole

Approved, Investigational

Phase 4

117976-89-3, 117976-90-6

5029

Methohexital

Approved

Phase 4

151-83-7

9034

Amoxicillin

Approved, Vet_approved

Phase 4

26787-78-0

33613

Clavulanic acid

Approved, Vet_approved

Phase 4

58001-44-8

5280980

Erythromycin

Approved, Investigational, Vet_approved

Phase 4

114-07-8

12560

Ketoconazole

Approved, Investigational

Phase 4

65277-42-1, 142128-57-2

47576 3823 638701

Amlodipine

Approved

Phase 4

88150-42-9

2162

Cilostazol

Approved, Investigational

Phase 4

73963-72-1

2754

Interventional clinical trials:

(show top 50) (show all 2955)

#	Name	Status	NCT ID	Phase	Drugs
1	Effect of Hydroxychloroquine on Atrial Fibrillation Recurrence After Radiofrequency Catheter Ablation in Patients With Atrial Fibrillation	Unknown status	NCT03592823	Phase 4	Hydroxychloroquine Sulfate 200 Mg Tablet
2	Atrial Fibrillation and Pericardial Drainage: Incidence of Postoperative Atrial Fibrillation According to the Type of Mediastinal Drainage Catheters	Unknown status	NCT02808897	Phase 4
3	Improved Exercise Tolerance in Participants With PReserved Ejection Fraction by Spironolactone on Myocardial Fibrosis in Atrial Fibrillation	Unknown status	NCT02673463	Phase 4	Spironolactone;Placebo
4	Phenprocoumon Versus Dabigatran in Subjects With Atrial Fibrillation and Left Atrial Thrombus - a Prospective, Randomized, Controlled, Open-label One Year Follow-up Pilot Study	Unknown status	NCT02591225	Phase 4	Dabigatranetexilate;Phenprocoumon
5	Amiodarone Prophylaxis for Atrial Fibrillation in Patients Undergoing Surgery for Lung Cancer: A Controlled, Randomized, Double Blinded Trial	Unknown status	NCT00724581	Phase 4	Amiodarone
6	Antiarrhythmic Drugs Assessment in Preventing Atrial Fibrillation	Unknown status	NCT02145546	Phase 4	Amiodarone;Propafenone;Sotalol
7	Comparison of Efficacy and Safety of Different Doses of Nifekalant Instant Cardioversion of Persistent Atrial Fibrillation During Radiofrequency Ablation：a Single-center Randomized Controlled Trial	Unknown status	NCT04209959	Phase 4	nifekalant
8	Rate Control in Atrial Fibrillation: A Randomized, Double-Blind, Crossover Comparison of Carvedilol and Metoprolol Tartrate	Unknown status	NCT02251509	Phase 4	Carvedilol;Metoprolol tartrate
9	Left Atrial Ablation for Paroxysmal Atrial Fibrillation and Hypertension With Implantable Loop Recorder With or Without ROX Coupler Follow Up Study: The LAAPITUP 3 Study	Unknown status	NCT02243891	Phase 4
10	Comparison of Efficacy and Safety Among DAbigatran, RIvaroxaban, and ApixabaN in Patients HavinG Non-Valvular Atrial Fibrillation in Taiwan (DARING-AF Study)	Unknown status	NCT02666157	Phase 4	Dabigatran etexilate;Rivaroxaban;Apixaban
11	Safety and Efficacy of Transvenous Pulmonary Isolation for the Treatment of Atrial Fibrillation: A Prospective Randomized Study Comparing Radiofrequency Energy With Cryoenergy	Unknown status	NCT00773539	Phase 4
12	Comparison of Two Strategies for the Management of Atrial Fibrillation After Cardiac Surgery : a Randomized Multicenter Clinical Trial	Unknown status	NCT04223739	Phase 4	Landiolol;Amiodarone
13	Impact of Colchicine Therapy on Arrhythmia Recurrence After Acute Pericardial Effusion Following Catheter Ablation of Atrial Fibrillation	Unknown status	NCT02260206	Phase 4	Colchicine
14	Atrial Fibrillation and Ischemic Events With Rivaroxaban in Patients With Stable Coronary Artery Disease Study (AFIRE Study)	Unknown status	NCT02642419	Phase 4	Rivaroxaban and single antiplatelet drug (aspirin, clopidogrel or prasugrel);Rivaroxaban
15	Comparison of a Rhythm Control Treatment Strategy Versus a Rate Control Strategy in Patients With Permanent or Long-term Persistent Atrial Fibrillation and Heart Failure Treated With Cardiac Resynchronization Therapy - a Pilot Study	Unknown status	NCT01850277	Phase 4	Amiodarone;Pharmacotherapy to slow and control ventricular rate
16	Multi-center Application of Bivalirudin in High-risk Bleeding Patients With Non-valvular Atrial Fibrillation Undergoing Percutaneous Left Atrial Appendage Occlusion	Unknown status	NCT04195997	Phase 4	Bivalirudin;Heparin
17	Randomized Trial Comparing Diltiazem and Metoprolol For Atrial Fibrillation Rate Control	Unknown status	NCT02025465	Phase 4	Metoprolol;Diltiazem
18	N-3 Fatty Acids for the Prevention of Atrial Fibrillation in Patients With Acute Heart Failure	Unknown status	NCT00692718	Phase 4	Epadel, Eicosapentaenoic acid
19	Gradual Diltiazem Infusion as an Approach to Initial Rate Control in Atrial Fibrillation or Atrial Flutter With Rapid Ventricular Response in the Emergency Setting	Unknown status	NCT04141553	Phase 4	Diltiazem Injection
20	Detection of Silent Atrial Fibrillation aFter Ischemic StrOke (SAFFO) Guided by Implantable Loop Recorder. Multicentre Italian Trial Based on Stroke Unit Network With Paired Cardio-Arrhythmology Units (Italian Neurocardiology Unit Network)	Unknown status	NCT02684825	Phase 4
21	A Nationwide Multicenter Trial Assessing the Effects of Catheter Ablation on Burden of Atrial Fibrillation Recorded by Implantable Cardiac Monitor	Unknown status	NCT02639793	Phase 4
22	The Efficacy and Safety of Dabigatran Etexilate and Different Intensity Warfarin for the Prevention of Stroke and Systemic Embolism in Patients With Non-valvular Atrial Fibrillation	Unknown status	NCT02646267	Phase 4	standard intensity warfarin;low intensity warfarin;dabigatran etexilate
23	Intensive Statin Therapy Effect on Incidence of Post-Operative Atrial Fibrillation	Unknown status	NCT02029534	Phase 4	Atorvastatin 20 mg;Atorvastatin 80 mg
24	A Pilot Study of Edoxaban in Patients With Non-Valvular Atrial Fibrillation and Left Atrial Appendage Closure	Unknown status	NCT03088072	Phase 4	Edoxaban;Aspirin and Clopidogrel;Aspirin and Warfarin
25	Rapid Atrial Fibrillation Treatment Strategy	Unknown status	NCT04092621	Phase 4	Amiodarone in Parenteral Dosage Form;Amiodarone Pill;Rate-control therapy
26	Low Dose of Diltiazem for Rate Control of Atrial Fibrillation	Unknown status	NCT00834925	Phase 4	low dose diltiazem
27	Effects of Vernakalant and Flecainide on Atrial Contractility in Patients With Atrial Fibrillation	Unknown status	NCT01646281	Phase 4	Vernakalant;Flecainide
28	Rivaroxaban in Patients With Atrial Fibrillation and Coronary Artery Disease Undergoing Percutaneous Coronary Intervention	Unknown status	NCT02334254	Phase 4	rivaroxaban and ticagrel therapy;triple antithrombotic regimen with warfarin, asipirin and clopidogrel
29	Clinical Efficacy of Potassium Canrenoate - Canrenone in Sinus Rhythm Restoration Among Patients With Atrial Fibrillation and Elevated Blood Pressure - a Pilot Randomized Controlled Trial.	Unknown status	NCT03536806	Phase 4	Saline 0.9%;Canrenone
30	A Prospective, Multi-Center, Pilot Study to Compare the Safety and Effectiveness of WATCHMAN Left Atrial Appendage Occlusion Device With Rivaroxaban for Stroke Prevention in Patients With Atrial Fibrillation	Unknown status	NCT02549963	Phase 4	Rivaroxaban
31	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
32	An Open-label, Randomized, Controlled, Multicenter Study to Evaluate DUAL Antithrombotic Therapy With Rivaroxaban Plus Ticagrelor vs. Rivaroxaban Plus Clopidogrel in Patients With Atrial Fibrillation and Acute Coronary Syndrome	Unknown status	NCT04023630	Phase 4	Rivaroxaban 15 MG Oral Tablet;Clopidogrel 75 Mg Oral Tablet;Ticagrelor 90 MG Oral Tablet
33	A Randomized, Prospective Multicenter Study to Determine the Incidence of Atrial Fibrillation and Heart Failure in Correlation to Stimulation Modes of Pacemakers	Unknown status	NCT00161551	Phase 4
34	Comparison of Anti-inflammatory Effects of Rivaroxaban Versus Dabigatran in Patients With Non-valvular Atrial Fibrillation (RIVAL-AF Study) -Multicenter Randomized Study-	Unknown status	NCT02331602	Phase 4	Rivaroxaban;Dabigatran
35	The Study of Rosuvastatin for Reduction of Postoperative Paroxysmal Atrial Fibrillation in Patient Undergoing Radiofrequency Catheter Ablation	Unknown status	NCT02502110	Phase 4	rosuvastatin
36	PV-Isolation for Paroxysmal Atrial Fibrillation: Isolation of the Arrhythmogenic Vein(s) vs. Isolation of All Veins	Unknown status	NCT00605748	Phase 4
37	Test of Efficacy and Safety of the Dual Antiplatelet Therapy Compared to the Combination of Oral Anticoagulant Therapy + Dual Antiplatelet Therapy in Patients With Atrial Fibrillation With Low-moderate Risk Submitted to Coronary Stent Implantation	Unknown status	NCT01141153	Phase 4	Acetylsalicylic Acid + clopidogrel + acenocoumarol;Acetylsalicylic Acid + clopidogrel
38	The Danish Non-vitamin K Antagonist Oral Anticoagulation Study. A Cluster Randomized Study Comparing Safety and Efficacy of Edoxaban, Apixaban, Rivaroxaban and Dabigatran for Oral Anticoagulation in Atrial Fibrillation (DANNOAC-AF).	Unknown status	NCT03129490	Phase 4	Dabigatran Etexilate Oral Capsule;Rivaroxaban Oral Tablet;Edoxaban Oral Tablet;Apixaban Oral Tablet
39	A Randomized Study Comparing Dabigatran Etexilate Versus Warfarin in Chinese Patients With Nonvalvular Atrial Fibrillation Who Undergo Percutaneous Coronary Intervention With Stenting (DES)	Unknown status	NCT03536611	Phase 4	dabigatran;warfarin
40	Pulmonary Vein Isolation With Versus Without Continued Antiarrhythmic Drug Treatment in Subjects With Recurrent Atrial Fibrillation: A Prospective 2-Centre Randomized Controlled Clinical Study (POWDER-AF)	Unknown status	NCT02475642	Phase 4
41	Linear Anatomically Versus Focal Electrophysiologically Guided Substrate Ablation in Patients With Persistent Atrial Fibrillation	Unknown status	NCT00196157	Phase 4
42	Randomized Study Comparing Cardioversion vs. Catheter Ablation in Patients With Persistent Atrial Fibrillation	Unknown status	NCT00196209	Phase 4
43	A Randomized, Prospective Multicenter Pilot Study to Determine the Influence of the Ventricular Pacing Site on the Incidence of Atrial Fibrillation and Heart Failure in Patients With Indication for Permanent Pacemaker Stimulation Therapy.	Unknown status	NCT00292383	Phase 4
44	Arrhythmia Restart Prevention and RatE STabilization in Atrial Fibrillation	Unknown status	NCT00224341	Phase 4
45	The Use of Dabigatran Etexilate in Patients With Atrial Fibrillation After Mitral Valve Prosthetic Replacement	Unknown status	NCT03183843	Phase 4	Dabigatran Etexilate;Warfarin
46	Catheter Ablation for Atrial Fibrillation: A Multicenter Clinical Trial	Unknown status	NCT01113294	Phase 4
47	Dronedarone in Pacemaker Patients With Paroxysmal Atrial Fibrillation	Unknown status	NCT01070667	Phase 4	Dronedarone;Placebo
48	Impact of Irbesartan on Oxidative Stress and C-Reactive Protein Levels in Patients With Persistent Atrial Fibrillation	Unknown status	NCT00613496	Phase 4	irbesartan;placebo
49	Comparison Between "Conventional Monitoring" Versus "Monitoring Via Vitaphone" in the Detection of Post Ablation Atrial Arrhythmias of Paroxysmal Atrial Fibrillation	Unknown status	NCT03966976	Phase 4
50	Atrial Fibrillation Therapy: A Multi-Center Clinical Study	Unknown status	NCT01341353	Phase 4	Digaoxin,amiodarone,β receptor antagonist, Calcium Antagonists

Search NIH Clinical Center for Familial Atrial Fibrillation

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

anisindione

Atenolol

Deslanoside

Digitalis preparation

DIGITALIS,POWDERED

Digitoxin

Digoxin

Diltiazem

Diltiazem Hydrochloride

Diltiazem maleate

Disopyramide

Disopyramide Phosphate

DITIAZ

dofetilide

ibutilide

ibutilide fumarate

Metoprolol

metoprolol succinate

Metoprolol Tartrate

Procainamide

Procainamide Hydrochloride

Propafenone

Propafenone Hydrochloride

Quinidine

quinidine gluconate

quinidine polygalacturonate

Quinidine Sulfate

Sotalol

Sotalol Hydrochloride

Verapamil

Verapamil hydrochloride

Warfarin

Warfarin Sodium

WARFARIN SODIUM ISOPROPANOL COMPLEX

Sources

Genetic Tests for Familial Atrial Fibrillation

Genetic tests related to Familial Atrial Fibrillation:

#	Genetic test	Affiliating Genes
1	Familial Atrial Fibrillation ²⁸

Sources

Anatomical Context for Familial Atrial Fibrillation

Organs/tissues related to Familial Atrial Fibrillation:

MalaCards : Heart, Atrioventricular Node, Brain, Lung, Kidney, Spinal Cord, Endothelial

Sources

Publications for Familial Atrial Fibrillation

Articles related to Familial Atrial Fibrillation:

(show top 50) (show all 1072)

#	Title	Authors	PMID	Year
1	A mutation in the atrial-specific myosin light chain gene (MYL4) causes familial atrial fibrillation. ⁶² ⁵	Orr N...Gollob MH	27066836	2016
2	A novel SCN5A gain-of-function mutation M1875T associated with familial atrial fibrillation. ⁵³ ⁶²	Makiyama T...Horie M	18929244	2008
3	Cardiac sodium channel mutation in atrial fibrillation. ⁵³ ⁶²	Ellinor PT...MacRae CA	18088563	2008
4	Human KCNQ1 S140G mutation is associated with atrioventricular blocks. ⁵³ ⁶²	Yang Y...Chen YH	17467630	2007
5	Atrial fibrillation in KCNE1-null mice. ⁵³ ⁶²	Temple J...Roden DM	15947250	2005
6	Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation. ⁵³ ⁶²	Yang Y...Chen Y	15368194	2004
7	KCNQ1 gain-of-function mutation in familial atrial fibrillation. ⁵³ ⁶²	Chen YH...Huang W	12522251	2003
8	Strength of association of classical vascular risk factors in young patients with ischaemic stroke: a case-control study. ⁶²	Ramirez-Moreno JM...Fernandez-Berges D	36309160	2022
9	bZIP transcription factors PcYap1 and PcRsmA link oxidative stress response to secondary metabolism and development in Penicillium chrysogenum. ⁶²	Perez-Perez WD...Fierro F	35366869	2022
10	Variable Clinical Appearance of the Kir2.1 Rare Variants in Russian Patients with Long QT Syndrome. ⁶²	Zaklyazminskaya E...Sokolova OS	35456365	2022
11	Natriuretic Peptide Oligomers Cause Proarrhythmic Metabolic and Electrophysiological Effects in Atrial Myocytes. ⁶²	Yang Z...Murray KT	35212578	2022
12	Functional analysis of the bZIP-type transcription factors AtfA and AtfB in Aspergillus nidulans. ⁶²	Kocsis B...Leiter E	36204617	2022
13	Whole-Exome Sequencing Implicates Neuronal Calcium Channel with Familial Atrial Fibrillation. ⁶²	Vad OB...Bentzen BH	35154276	2022
14	A novel PRRX1 loss-of-function variation contributing to familial atrial fibrillation and congenital patent ductus arteriosus. ⁶²	Ke ZP...Yang YQ	35377386	2022
15	PRRX1 Loss-of-Function Mutations Underlying Familial Atrial Fibrillation. ⁶²	Guo XJ...Yang YQ	34845933	2021
16	Zfhx3 Transcription Factor Represses the Expression of SCN5A Gene and Decreases Sodium Current Density (INa). ⁶²	Rubio-Alarcon M...Caballero R	34884836	2021
17	Epistatic interaction of PDE4DIP and DES mutations in familial atrial fibrillation with slow conduction. ⁶²	Abou Ziki MD...Mani A	34289528	2021
18	Familial atrial rapid fibrillation associated with double mutations of SCN5A and KCNQ1. ⁶²	Kanai M...Shoda M	33632346	2021
19	8-hydroxypinoresinol-4-O-β-D-glucoside from Valeriana officinalis L. Is a Novel Kv1.5 Channel Blocker. ⁶²	Liu X...Li Q	33932511	2021
20	Human induced pluripotent stem cell-derived atrial cardiomyocytes carrying an SCN5A mutation identify nitric oxide signaling as a mediator of atrial fibrillation. ⁶²	Hong L...Darbar D	34019817	2021
21	The Regulatory Mechanism of Water Activities on Aflatoxins Biosynthesis and Conidia Development, and Transcription Factor AtfB Is Involved in This Regulation. ⁶²	Ma L...Xing F	34205815	2021
22	Connexin45 (GJC1) loss-of-function mutation contributes to familial atrial fibrillation and conduction disease. ⁶²	Li RG...Bai D	33429106	2021
23	The inhibitory mechanism of methyl jasmonate on Aspergillus flavus growth and aflatoxin biosynthesis and two novel transcription factors are involved in this action. ⁶²	Li X...Xing F	33648276	2021
24	Molecular Pathology of Sodium Channel Beta-Subunit Variants. ⁶²	Angsutararux P...Silva JR	34867379	2021
25	Proteinuria versus albuminuria in 24-hour urine collection: prevalence and clinical outcome in non-hypoxemic adult patients with congenital heart disease. ⁶²	Martinez-Quintana E...Rodriguez-Gonzalez F	33815919	2021
26	Citrate pretreatment attenuates hypoxia/reoxygenation-induced cardiomyocyte injury via regulating microRNA-142-3p/Rac1 aix. ⁶²	Xiang H...Tang Y	32456513	2020
27	ISL1 loss-of-function variation causes familial atrial fibrillation. ⁶²	Wu SH...Yang YQ	32771629	2020
28	Clinical profile and outcome of familial versus non-familial atrial fibrillation. ⁶²	Heidarali M...Haghjoo M	32273045	2020
29	Generation of patient-specific induced pluripotent stem cells (ZZUSAHi001-A) derived from a familial atrial fibrillation patient carrying KCNA5 c.775G>A mutation. ⁶²	Niu S...Zhang L	32721895	2020
30	[Effectiveness, safety and costs of stroke prevention in non-valvular auricular fibrillation. Study of cohorts matched by Propensity score]. ⁶²	Giner-Soriano M...Morros R	31551166	2020
31	The Genetic Puzzle of Familial Atrial Fibrillation. ⁶²	Ragab AAY...de Groot NMS	32118049	2020
32	Putative role of Brugada syndrome genes in familial atrial fibrillation. ⁶²	Maltese PE...Bertelli M	31539150	2019
33	Quality of life, adherence and satisfaction of patients with auricular fibrillation treated with dabigatran or vitamin K antagonists. ⁶²	Barrios V...Chopo Alcubilla JM	30894251	2019
34	The anti-aflatoxigenic mechanism of cinnamaldehyde in Aspergillus flavus. ⁶²	Wang P...Xing F	31324857	2019
35	Electrophysiologic and molecular mechanisms of a frameshift NPPA mutation linked with familial atrial fibrillation. ⁶²	Menon A...Darbar D	31077706	2019
36	Characterization and haplotype study of 6 novel STR markers related to the KCNQ1 gene in heterogeneous cardiovascular disorders in the Iranian population ⁶²	Amirian A...Zeinali S	30866607	2019
37	A Novel PITX2c Gain-of-Function Mutation, p.Met207Val, in Patients With Familial Atrial Fibrillation. ⁶²	Mechakra A...Christe G	30558760	2019
38	Survival With Auricular Fibrillation: The View From a Century Ago at the Mayo Clinic. ⁶²	Newman J...Ziemer RE	30899915	2019
39	Proarrhythmia in the p.Met207Val PITX2c-Linked Familial Atrial Fibrillation-Insights From Modeling. ⁶²	Bai J...Zhang H	31695623	2019
40	[Quality of care and safety indicators in anticoagulated patients with non-valvular auricular fibrillation and deep venous thromboembolic disease]. ⁶²	Ignacio E...el Grupo Impulsor de Calidad Asistencial (GICA)	29566997	2018
41	Molecular Insights into the Short QT Syndrome. ⁶²	Perike S...McCAULEY MD	31355049	2018
42	A SHOX2 loss-of-function mutation underlying familial atrial fibrillation. ⁶²	Li N...Yang YQ	30443179	2018
43	Piperine inhibits aflatoxin B1 production in Aspergillus flavus by modulating fungal oxidative stress response. ⁶²	Caceres I...Bailly JD	28830793	2017
44	[Use of non-vitamin K antagonist oral anticoagulants in Primary Care: ACTUA study]. ⁶²	Barrios V...Vargas D	28029563	2017
45	The Fungal bZIP Transcription Factor AtfB Controls Virulence-Associated Processes in Aspergillus parasiticus. ⁶²	Wee J...Linz JE	28926946	2017
46	Characteristics and temporal pattern of readmissions of patients with atrial fibrillation hospitalized in medical departments. ⁶²	Iniguez Vazquez I...Casariego Vales E	28460719	2017
47	Chronic kidney disease in hypertensive subjects ≥60 years treated in Primary Care. ⁶²	Salvador-Gonzalez B...en representacion del grupo de investigacion del proyecto MARREC-HTA	28750875	2017
48	Familial clustering of atrial fibrillation and comparative longitudinal outcomes of familial and non-familial atrial fibrillation. ⁶²	Gundlund A...Fosbol EL	28485191	2017
49	Generation and cardiac subtype-specific differentiation of PITX2-deficient human iPS cell lines for exploring familial atrial fibrillation. ⁶²	Marczenke M...Greber B	28677534	2017
50	Genome-wide transcriptome analysis of Aspergillus fumigatus exposed to osmotic stress reveals regulators of osmotic and cell wall stresses that are SakAHOG1 and MpkC dependent. ⁶²	Pereira Silva L...Goldman GH	27706915	2017

Sources

Genes for Familial Atrial Fibrillation

Genes related to Familial Atrial Fibrillation (26 elite genes):

(show top 50) (show all 97)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	MYL4	Myosin Light Chain 4	Protein Coding	763.53	Pathogenic ⁵ Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)	27066836
2	KCNQ1	Potassium Voltage-Gated Channel Subfamily Q Member 1	Protein Coding	387.16	Causative germline mutation (gain of function) ⁵⁸ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications Summaries (show sections)	12522251 22471742 17467630 (more) 15947250
3	KCNE2	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 2	Protein Coding	375.24	Causative germline mutation (gain of function) ⁵⁸ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	15368194
4	SCN5A	Sodium Voltage-Gated Channel Alpha Subunit 5	Protein Coding	374.18	Causative germline mutation (gain of function) ⁵⁸ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	18929244 18378609 24582607 (more) 18088563
5	KCNJ2	Potassium Inwardly Rectifying Channel Subfamily J Member 2	Protein Coding	365.12	Causative germline mutation (gain of function) ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)	15922306
6	KCNA5	Potassium Voltage-Gated Channel Subfamily A Member 5	Protein Coding	364.54	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Summaries (show sections)	19343045 16772329
7	SCN3B	Sodium Voltage-Gated Channel Beta Subunit 3	Protein Coding	356	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁴	20558140 21051419
8	GJA5	Gap Junction Protein Alpha 5	Protein Coding	355.87	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴	20650941
9	NKX2-5	NK2 Homeobox 5	Protein Coding	355.73	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁴	23525379 22818067
10	GATA5	GATA Binding Protein 5	Protein Coding	355.7	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁴	22483626 23175127 23295592
11	SCN4B	Sodium Voltage-Gated Channel Beta Subunit 4	Protein Coding	355.49	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴	23604097
12	NPPA	Natriuretic Peptide A	Protein Coding	355.47	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴	18614783
13	SCN2B	Sodium Voltage-Gated Channel Beta Subunit 2	Protein Coding	355.45	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁴	19808477
14	NUP155	Nucleoporin 155	Protein Coding	355.15	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁴	19070573
15	GATA4	GATA Binding Protein 4	Protein Coding	355.08	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁴	21708142 21874226 22552926
16	PITX2	Paired Like Homeodomain 2	Protein Coding	354.97	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁴	24333117
17	GATA6	GATA Binding Protein 6	Protein Coding	354.8	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁴	22824924 22750565 22257684
18	ATFB2	Familial Atrial Fibrillation 2	Genetic Locus	58.69	MalaCards inferred ³⁹ GeneCards inferred via : Gene name (show sections)
19	ATFB1	Atrial Fibrillation, Familial 1	Genetic Locus	50	MalaCards inferred ³⁹
20	ATFB5	Atrial Fibrillation, Familial, 5	Genetic Locus	50	MalaCards inferred ³⁹
21	ATFB8	Atrial Fibrillation, Familial, 8	Genetic Locus	50	MalaCards inferred ³⁹
22	KCNE1	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 1	Protein Coding	40.42	Candidate gene tested ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)	22471742
23	NKX2-6	NK2 Homeobox 6	Protein Coding	30.77	Susceptibility factor ⁵⁸ DISEASES inferred ¹⁴	25319568
24	ABCC9	ATP Binding Cassette Subfamily C Member 9	Protein Coding	30.64	Candidate gene tested ⁵⁸ DISEASES inferred ¹⁴	17245405
25	SCN1B	Sodium Voltage-Gated Channel Beta Subunit 1	Protein Coding	30.59	Candidate gene tested ⁵⁸ DISEASES inferred ¹⁴	19808477
26	TTN	Titin	Protein Coding	29.15	Susceptibility factor ⁵⁸ DISEASES inferred ¹⁴	30333491
27	KCNH2	Potassium Voltage-Gated Channel Subfamily H Member 2	Protein Coding	13.67	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
28	KCNE5	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 5	Protein Coding	13.16	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
29	IDE	Insulin Degrading Enzyme	Protein Coding	10.81	DISEASES inferred ¹⁴ GeneCards inferred via : Functions (show sections)
30	KCNE3	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 3	Protein Coding	6.8	DISEASES inferred ¹⁴
31	RYR2	Ryanodine Receptor 2	Protein Coding	5.96	DISEASES inferred ¹⁴
32	CACNA1C	Calcium Voltage-Gated Channel Subunit Alpha1 C	Protein Coding	5.89	DISEASES inferred ¹⁴
33	AKAP9	A-Kinase Anchoring Protein 9	Protein Coding	5.84	DISEASES inferred ¹⁴
34	CASQ2	Calsequestrin 2	Protein Coding	5.83	DISEASES inferred ¹⁴
35	CACNB2	Calcium Voltage-Gated Channel Auxiliary Subunit Beta 2	Protein Coding	5.76	DISEASES inferred ¹⁴
36	KCNJ8	Potassium Inwardly Rectifying Channel Subfamily J Member 8	Protein Coding	5.65	DISEASES inferred ¹⁴
37	CACNA2D1	Calcium Voltage-Gated Channel Auxiliary Subunit Alpha2delta 1	Protein Coding	5.64	DISEASES inferred ¹⁴
38	CHL1-AS2	CHL1 Antisense RNA 2	RNA Gene	5.64	DISEASES inferred ¹⁴
39	KCNJ3	Potassium Inwardly Rectifying Channel Subfamily J Member 3	Protein Coding	5.59	DISEASES inferred ¹⁴
40	KCNJ5	Potassium Inwardly Rectifying Channel Subfamily J Member 5	Protein Coding	5.58	DISEASES inferred ¹⁴
41	HCN4	Hyperpolarization Activated Cyclic Nucleotide Gated Potassium Channel 4	Protein Coding	5.42	DISEASES inferred ¹⁴
42	MIR4726	MicroRNA 4726	RNA Gene	5.4	DISEASES inferred ¹⁴
43	SHOX2	Short Stature Homeobox 2	Protein Coding	5.35	DISEASES inferred ¹⁴
44	MYH7	Myosin Heavy Chain 7	Protein Coding	5.33	DISEASES inferred ¹⁴
45	MYH6	Myosin Heavy Chain 6	Protein Coding	5.3	DISEASES inferred ¹⁴
46	PKP2	Plakophilin 2	Protein Coding	5.23	DISEASES inferred ¹⁴
47	KCND3	Potassium Voltage-Gated Channel Subfamily D Member 3	Protein Coding	5.21	DISEASES inferred ¹⁴
48	TECRL	Trans-2,3-Enoyl-CoA Reductase Like	Protein Coding	5.13	DISEASES inferred ¹⁴
49	TBX5	T-Box Transcription Factor 5	Protein Coding	5.12	DISEASES inferred ¹⁴
50	KCNJ12	Potassium Inwardly Rectifying Channel Subfamily J Member 12	Protein Coding	5.12	DISEASES inferred ¹⁴

Sources

Variations for Familial Atrial Fibrillation

ClinVar genetic disease variations for Familial Atrial Fibrillation:

⁵ (show top 50) (show all 70)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	MYL4	NM_002476.2(MYL4):c.31G>A (p.Glu11Lys)	SNV	Pathogenic	224067	rs886037778	GRCh37: 17:45286819-45286819 GRCh38: 17:47209453-47209453
2	KCNJ2	NM_000891.3(KCNJ2):c.*2776del	DEL	Uncertain Significance	324885	rs886053343	GRCh37: 17:68175240-68175240 GRCh38: 17:70179099-70179099
3	KCNJ2	NM_000891.3(KCNJ2):c.*1721dup	DUP	Uncertain Significance	324865	rs35753731	GRCh37: 17:68174168-68174169 GRCh38: 17:70178027-70178028
4	KCNJ2	NM_000891.3(KCNJ2):c.*324del	DEL	Uncertain Significance	324839	rs570173316	GRCh37: 17:68172786-68172786 GRCh38: 17:70176645-70176645
5	KCNJ2	NM_000891.3(KCNJ2):c.3391_3392dup	DUP	Uncertain Significance	324894	rs552636156	GRCh37: 17:68175852-68175853 GRCh38: 17:70179711-70179712
6	KCNJ2	NM_000891.3(KCNJ2):c.2875_2876del	DEL	Uncertain Significance	324887	rs561353262	GRCh37: 17:68175339-68175340 GRCh38: 17:70179198-70179199
7	KCNJ2	NM_000891.3(KCNJ2):c.2771_2775del	DEL	Uncertain Significance	324882	rs35656864	GRCh37: 17:68175206-68175210 GRCh38: 17:70179065-70179069
8	KCNJ2	NM_000891.3(KCNJ2):c.*1702CT[3]	MICROSAT	Uncertain Significance	324864	rs1555604187	GRCh37: 17:68174165-68174166 GRCh38: 17:70178024-70178025
9	KCNJ2	NM_000891.3(KCNJ2):c.*2775dup	DUP	Uncertain Significance	324879	rs35656864	GRCh37: 17:68175205-68175206 GRCh38: 17:70179064-70179065
10	KCNJ2	NM_000891.3(KCNJ2):c.-88C>T	SNV	Uncertain Significance	324828	rs886053322	GRCh37: 17:68171093-68171093 GRCh38: 17:70174952-70174952
11	KCNJ2	NM_000891.3(KCNJ2):c.1719_1721dup	DUP	Uncertain Significance	324867	rs35753731	GRCh37: 17:68174168-68174169 GRCh38: 17:70178027-70178028
12	ABCC9	NM_020297.4(ABCC9):c.4316-14T>G	SNV	Uncertain Significance	308032	rs886049168	GRCh37: 12:21960427-21960427 GRCh38: 12:21807493-21807493
13	GJA5	NM_181703.4(GJA5):c.*1211A>G	SNV	Uncertain Significance	292438	rs886045244	GRCh37: 1:147229084-147229084 GRCh38: 1:147756951-147756951
14	KCNJ2	NM_000891.3(KCNJ2):c.2774_2775del	DEL	Uncertain Significance	324880	rs35656864	GRCh37: 17:68175206-68175207 GRCh38: 17:70179065-70179066
15	KCNJ2	NM_000891.3(KCNJ2):c.2772_2775del	DEL	Uncertain Significance	324881	rs35656864	GRCh37: 17:68175206-68175209 GRCh38: 17:70179065-70179068
16	KCNJ2	NM_000891.3(KCNJ2):c.*1702dup	DUP	Uncertain Significance	324863	rs886053334	GRCh37: 17:68174165-68174166 GRCh38: 17:70178024-70178025
17	KCNJ2	NM_000891.3(KCNJ2):c.1702_1704dup	DUP	Uncertain Significance	324862	rs1555604193	GRCh37: 17:68174165-68174166 GRCh38: 17:70178024-70178025
18	KCNJ2	NM_000891.3(KCNJ2):c.2770_2775del	DEL	Uncertain Significance	324883	rs35656864	GRCh37: 17:68175206-68175211 GRCh38: 17:70179065-70179070
19	ABCC9	NM_020297.4(ABCC9):c.2238-16del	DEL	Uncertain Significance	308036	rs886049170	GRCh37: 12:22016004-22016004 GRCh38: 12:21863070-21863070
20	KCNJ2	NM_000891.3(KCNJ2):c.-162delinsTCAGAGTAGT	INDEL	Uncertain Significance	324827	rs376713253	GRCh37: 17:68171019-68171019 GRCh38: 17:70174878-70174878
21	KCNJ2	NM_000891.3(KCNJ2):c.*1128dup	DUP	Uncertain Significance	324851	rs777658732	GRCh37: 17:68173591-68173592 GRCh38: 17:70177450-70177451
22	GJA5	NM_181703.4(GJA5):c.*1259C>T	SNV	Uncertain Significance	292437	rs886045243	GRCh37: 1:147229036-147229036 GRCh38: 1:147756903-147756903
23	KCNJ2	NM_000891.3(KCNJ2):c.1720_1721dup	DUP	Uncertain Significance	324866	rs35753731	GRCh37: 17:68174168-68174169 GRCh38: 17:70178027-70178028
24	ABCC9	NM_020297.4(ABCC9):c.1165-4del	DEL	Uncertain Significance	308042	rs886049172	GRCh37: 12:22063250-22063250 GRCh38: 12:21910316-21910316
25	KCNJ2	NM_000891.3(KCNJ2):c.*3463del	DEL	Uncertain Significance	324895	rs3841509	GRCh37: 17:68175918-68175918 GRCh38: 17:70179777-70179777
26	ABCC9	NM_020297.4(ABCC9):c.1165-7_1165-6del	DEL	Uncertain Significance	308043	rs35857705	GRCh37: 12:22063252-22063253 GRCh38: 12:21910318-21910319
27	ABCC9	NM_020297.4(ABCC9):c.1165-6dup	DUP	Uncertain Significance	45385	rs35857705	GRCh37: 12:22063251-22063252 GRCh38: 12:21910317-21910318
28	LAMA4	NM_001105206.3(LAMA4):c.3742A>G (p.Ile1248Val)	SNV	Uncertain Significance	488160	rs547323858	GRCh37: 6:112454047-112454047 GRCh38: 6:112132845-112132845
29	KCNE2	NM_172201.2(KCNE2):c.-121C>T	SNV	Uncertain Significance	339713	rs188625398	GRCh37: 21:35736342-35736342 GRCh38: 21:34364043-34364043
30	KCNQ1	NM_000218.3(KCNQ1):c.66C>T (p.Gly22=)	SNV	Uncertain Significance	304215	rs886048162	GRCh37: 11:2466394-2466394 GRCh38: 11:2445164-2445164
31	KCNQ1	NM_000218.3(KCNQ1):c.650C>T (p.Ser217Phe)	SNV	Uncertain Significance	304217	rs886048163	GRCh37: 11:2592600-2592600 GRCh38: 11:2571370-2571370
32	KCNQ1-AS1, KCNQ1	NM_000218.3(KCNQ1):c.*292C>A	SNV	Uncertain Significance	304240	rs886048169	GRCh37: 11:2869525-2869525 GRCh38: 11:2848295-2848295
33	KCNQ1	NM_000218.3(KCNQ1):c.29C>A (p.Ala10Asp)	SNV	Uncertain Significance	304214	rs886048161	GRCh37: 11:2466357-2466357 GRCh38: 11:2445127-2445127
34	KCNQ1-AS1, KCNQ1	NM_000218.3(KCNQ1):c.*897G>T	SNV	Uncertain Significance	304266	rs561861522	GRCh37: 11:2870130-2870130 GRCh38: 11:2848900-2848900
35	KCNQ1OT1, KCNQ1	NM_000218.3(KCNQ1):c.1514+3G>A	SNV	Uncertain Significance	304226	rs374767819	GRCh37: 11:2683314-2683314 GRCh38: 11:2662084-2662084
36	KCNQ1	NM_000218.3(KCNQ1):c.781-6G>T	SNV	Uncertain Significance	304218	rs886048164	GRCh37: 11:2594070-2594070 GRCh38: 11:2572840-2572840
37	KCNQ1-AS1, KCNQ1	NM_000218.3(KCNQ1):c.887_889del	DEL	Uncertain Significance	304264	rs886048175	GRCh37: 11:2870119-2870121 GRCh38: 11:2848889-2848891
38	KCNQ1-AS1, KCNQ1	NM_000218.3(KCNQ1):c.1979C>A (p.Pro660His)	SNV	Uncertain Significance	304231	rs886048165	GRCh37: 11:2869181-2869181 GRCh38: 11:2847951-2847951
39	KCNQ1-AS1, KCNQ1	NM_000218.3(KCNQ1):c.*398C>T	SNV	Uncertain Significance	304246	rs886048170	GRCh37: 11:2869631-2869631 GRCh38: 11:2848401-2848401
40	KCNQ1-AS1, KCNQ1	NM_000218.3(KCNQ1):c.*160C>A	SNV	Uncertain Significance	304234	rs886048167	GRCh37: 11:2869393-2869393 GRCh38: 11:2848163-2848163
41	KCNQ1-AS1, KCNQ1	NM_000218.3(KCNQ1):c.*554T>G	SNV	Uncertain Significance	304252	rs886048172	GRCh37: 11:2869787-2869787 GRCh38: 11:2848557-2848557
42	KCNQ1	NM_000218.3(KCNQ1):c.1251+13C>T	SNV	Uncertain Significance	304220	rs201364493	GRCh37: 11:2608935-2608935 GRCh38: 11:2587705-2587705
43	KCNQ1-AS1, KCNQ1	NM_000218.3(KCNQ1):c.1973C>A (p.Thr658Asn)	SNV	Uncertain Significance	304230	rs377661455	GRCh37: 11:2869175-2869175 GRCh38: 11:2847945-2847945
44	KCNQ1-AS1, KCNQ1	NM_000218.3(KCNQ1):c.*26C>A	SNV	Uncertain Significance	304232	rs886048166	GRCh37: 11:2869259-2869259 GRCh38: 11:2848029-2848029
45	KCNQ1	NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln)	SNV	Uncertain Significance	67030	rs145229963	GRCh37: 11:2610046-2610046 GRCh38: 11:2588816-2588816
46	KCNQ1	NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp)	SNV	Uncertain Significance	52970	rs199472776	GRCh37: 11:2608860-2608860 GRCh38: 11:2587630-2587630
47	GJA5	NM_005266.7(GJA5):c.-67G>A	SNV	Uncertain Significance	292457	rs36214923	GRCh37: 1:147245389-147245389 GRCh38: 1:147773285-147773285
48	KCNJ2	NM_000891.3(KCNJ2):c.1259C>T (p.Pro420Leu)	SNV	Uncertain Significance	264482	rs749707062	GRCh37: 17:68172439-68172439 GRCh38: 17:70176298-70176298
49	GJA5	NM_005266.6(GJA5):c.-152G=	SNV	Likely Benign	368828	rs791286	GRCh37: 1:147245474-147245474 GRCh38: 1:147773370-147773370
50	KCNQ1OT1, KCNQ1	NM_000218.3(KCNQ1):c.1393+21538C>T	SNV	Likely Benign	304222	rs72850203	GRCh37: 11:2631622-2631622 GRCh38: 11:2610392-2610392

Sources

Expression for Familial Atrial Fibrillation

Search GEO for disease gene expression data for Familial Atrial Fibrillation.

Sources

Pathways for Familial Atrial Fibrillation

Pathways directly related to Familial Atrial Fibrillation:

#	Pathway	Source
1	Defective ABCC9 causes CMD10, ATFB12 and Cantu syndrome	Reactome ⁶⁶

Pathways related to Familial Atrial Fibrillation according to GeneCards Suite gene sharing:

(show all 17)

#	Super pathways	Score	Top Affiliating Genes
1	Cardiac conduction ⁶⁶ Show member pathways Classical Kir channels ⁶⁶ Ion homeostasis ⁶⁶ Ion transport by P-type ATPases ⁶⁶ Muscle contraction ⁶⁶ Phase 1 - inactivation of fast Na+ channels ⁶⁶ Phase 2 - plateau phase ⁶⁶ Phase 3 - rapid repolarisation ⁶⁶ Phase 4 - resting membrane potential ⁶⁶ Physiological factors ⁶⁶ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁶ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁶ Tandem pore domain potassium channels ⁶⁶ TWIK related potassium channel (TREK) ⁶⁶ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁶ TWIK-related spinal cord K+ channel (TRESK) ⁶⁶ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁶	12.47	SCN5A SCN4B SCN3B SCN2B NPPA NKX2-5
2	G-Beta Gamma Signaling ⁶⁴ Show member pathways CRHR Pathway ⁶⁴ GHRH Signaling ⁶⁴	12.45	SCN5A SCN4B SCN3B SCN2B
3	Dopamine-DARPP32 Feedback onto cAMP Pathway ⁶⁴	12.18	KCNQ1 KCNJ2 KCNE2 KCNA5
4	L1CAM interactions ⁶⁶ Show member pathways CHL1 interactions ⁶⁶ Neurofascin interactions ⁶⁶ NrCAM interactions ⁶⁶ Recycling pathway of L1 ⁶⁶	12.09	SCN5A SCN4B SCN3B SCN2B
5	Sudden infant death syndrome (SIDS) susceptibility pathways ⁷⁴	11.98	SCN5A SCN4B SCN3B KCNQ1
6	Sensory perception of taste ⁶⁶ Show member pathways Class C/3 (Metabotropic glutamate/pheromone receptors) ⁶⁶ Sensory perception of salty taste ⁶⁶ Sensory perception of sour taste ⁶⁶ Sensory perception of sweet, bitter, and umami (glutamate) taste ⁶⁶	11.86	SCN4B SCN2B KCNJ2
7	Cardiac progenitor differentiation ⁷⁴	11.4	SCN5A NKX2-5 GATA4
8	Transcriptional Regulatory Network in Embryonic Stem Cell ⁶⁴	11.35	MYL4 GATA6 GATA4
9	Heart development ⁷⁴	11.34	GATA4 GATA6 NKX2-5 PITX2
10	Phase 0 - rapid depolarisation ⁶⁶	11.09	SCN5A SCN4B SCN3B SCN2B
11	Antiarrhythmic Pathway, Pharmacodynamics ⁶⁰	11.02	SCN5A SCN4B SCN3B SCN2B KCNQ1 KCNJ2
12	Dravet syndrome ⁷⁴	10.99	SCN4B SCN3B SCN2B
13	Cardiomyocyte Differentiation through BMP Receptors ⁶⁴	10.95	NPPA NKX2-5 GATA4
14	Interaction between L1 and Ankyrins ⁶⁶	10.95	SCN5A SCN4B SCN3B SCN2B
15	YAP1- and WWTR1 (TAZ)-stimulated gene expression ⁶⁶	10.76	NPPA NKX2-5 GATA4
16	Genes targeted by miRNAs in adipocytes ⁷⁴	10.65	KCNQ1 KCNJ2
17	HOP Signaling ⁶⁴	10.28	NPPA NKX2-5 GATA4

Sources

GO Terms for Familial Atrial Fibrillation

Cellular components related to Familial Atrial Fibrillation according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	voltage-gated potassium channel complex	GO:0008076	9.76	KCNQ1 KCNJ2 KCNE2 KCNA5
2	T-tubule	GO:0030315	9.73	SCN5A SCN2B KCNJ2
3	voltage-gated sodium channel complex	GO:0001518	9.56	SCN5A SCN4B SCN3B SCN2B
4	potassium channel complex	GO:0034705	9.5	KCNQ1 KCNA5
5	intercalated disc	GO:0014704	9.32	SCN5A SCN4B KCNJ2 KCNA5 GJA5

Biological processes related to Familial Atrial Fibrillation according to GeneCards Suite gene sharing:

(show all 49)

#	Name	GO ID	Score	Top Affiliating Genes
1	potassium ion transmembrane transport	GO:0071805	10.28	KCNA5 KCNE2 KCNJ2 KCNQ1
2	sodium ion transmembrane transport	GO:0035725	10.26	SCN5A SCN4B SCN3B SCN2B
3	potassium ion transport	GO:0006813	10.19	KCNQ1 KCNJ2 KCNE2 KCNA5 GJA5
4	sodium ion transport	GO:0006814	10.18	KCNQ1 SCN2B SCN3B SCN4B SCN5A
5	cell fate commitment	GO:0045165	10.17	GATA6 GATA5 GATA4
6	aortic valve morphogenesis	GO:0003180	10.17	NPPA NKX2-5 GATA5 GATA4
7	potassium ion import across plasma membrane	GO:1990573	10.15	KCNQ1 KCNJ2 KCNE2
8	heart development	GO:0007507	10.13	GATA4 GATA5 GJA5 KCNQ1 NKX2-5
9	monoatomic ion transport	GO:0006811	10.13	SCN5A SCN4B SCN3B SCN2B KCNQ1 KCNJ2
10	positive regulation of heart rate	GO:0010460	10.12	SCN3B NPPA KCNQ1
11	regulation of sodium ion transmembrane transporter activity	GO:2000649	10.11	SCN4B SCN3B SCN2B
12	cardiac conduction system development	GO:0003161	10.11	GJA5 NKX2-5 NPPA SCN5A
13	potassium ion export across plasma membrane	GO:0097623	10.1	KCNQ1 KCNE2 KCNA5
14	regulation of cardiac muscle cell contraction	GO:0086004	10.1	GATA4 KCNJ2 SCN5A
15	ventricular cardiac muscle cell action potential	GO:0086005	10.1	SCN5A SCN3B KCNQ1 KCNE2
16	regulation of ventricular cardiac muscle cell membrane repolarization	GO:0060307	10.1	GJA5 KCNE2 KCNQ1 SCN4B SCN5A
17	membrane repolarization during ventricular cardiac muscle cell action potential	GO:0098915	10.09	KCNE2 KCNQ1 SCN2B
18	regulation of membrane repolarization	GO:0060306	10.09	KCNQ1 KCNJ2 KCNE2
19	anatomical structure morphogenesis	GO:0009653	10.08	PITX2 GATA6 GATA5 GATA4
20	membrane repolarization during action potential	GO:0086011	10.08	KCNQ1 KCNJ2 KCNE2
21	intestinal epithelial cell differentiation	GO:0060575	10.08	GATA6 GATA5 GATA4
22	positive regulation of sodium ion transport	GO:0010765	10.08	SCN5A SCN4B SCN3B NKX2-5
23	membrane depolarization during cardiac muscle cell action potential	GO:0086012	10.07	SCN5A SCN4B SCN3B SCN2B KCNJ2
24	regulation of atrial cardiac muscle cell membrane depolarization	GO:0060371	10.06	GJA5 SCN2B SCN3B SCN5A
25	cardiac muscle cell differentiation	GO:0055007	10.04	NKX2-5 GATA6 GATA4
26	regulation of ventricular cardiac muscle cell membrane depolarization	GO:0060373	10.03	SCN5A SCN3B GJA5
27	regulation of atrial cardiac muscle cell membrane repolarization	GO:0060372	10.03	SCN5A NPPA KCNQ1 KCNA5
28	atrioventricular node development	GO:0003162	10.02	GATA4 GATA6 NKX2-5
29	regulation of monoatomic ion transmembrane transport	GO:0034765	10.02	KCNA5 KCNE2 KCNJ2 KCNQ1 SCN2B SCN3B
30	positive regulation of cardioblast differentiation	GO:0051891	10.01	GATA4 GATA6 NKX2-5
31	atrial septum morphogenesis	GO:0060413	10	NKX2-5 GATA4
32	atrioventricular canal development	GO:0036302	10	GATA6 GATA4
33	cardiac muscle contraction	GO:0060048	10	KCNQ1 MYL4 NKX2-5 SCN2B SCN3B SCN4B
34	membrane repolarization during cardiac muscle cell action potential	GO:0086013	9.99	KCNJ2 KCNQ1
35	positive regulation of cardiac muscle contraction	GO:0060452	9.99	NPPA KCNQ1
36	membrane repolarization during atrial cardiac muscle cell action potential	GO:0098914	9.97	KCNQ1 KCNA5
37	SA node cell action potential	GO:0086015	9.97	SCN5A SCN3B
38	embryonic heart tube left/right pattern formation	GO:0060971	9.96	PITX2 NKX2-5
39	AV node cell action potential	GO:0086016	9.96	SCN5A SCN4B
40	atrial cardiac muscle cell action potential	GO:0086014	9.96	SCN5A SCN3B NUP155 KCNQ1 KCNA5
41	cardiac muscle tissue development	GO:0048738	9.94	NKX2-5 GATA6 GATA5
42	negative regulation of delayed rectifier potassium channel activity	GO:1902260	9.88	KCNQ1 KCNE2
43	membrane repolarization	GO:0086009	9.88	KCNQ1 KCNE2
44	cardiac ventricle morphogenesis	GO:0003208	9.87	GATA4 NKX2-5
45	cardiac conduction	GO:0061337	9.76	SCN3B SCN2B KCNQ1
46	cardiac muscle cell action potential involved in contraction	GO:0086002	9.73	SCN5A SCN4B SCN3B SCN2B KCNJ2 KCNE2
47	system development	GO:0048731	9.7	GATA6 GATA4
48	negative regulation of voltage-gated potassium channel activity	GO:1903817	9.68	KCNQ1 KCNE2
49	regulation of heart rate by cardiac conduction	GO:0086091	9.53	SCN5A SCN4B SCN3B SCN2B KCNQ1 KCNJ2

Molecular functions related to Familial Atrial Fibrillation according to GeneCards Suite gene sharing:

(show all 17)

#	Name	GO ID	Score	Top Affiliating Genes
1	transcription cis-regulatory region binding	GO:0000976	10.16	PITX2 NKX2-5 GATA6 GATA5 GATA4
2	RNA polymerase II-specific DNA-binding transcription factor binding	GO:0061629	10.1	PITX2 NKX2-5 GATA6 GATA4
3	scaffold protein binding	GO:0097110	10.04	SCN5A KCNQ1 KCNA5
4	transmembrane transporter binding	GO:0044325	10.02	SCN5A SCN4B SCN3B KCNQ1 KCNE2
5	voltage-gated potassium channel activity	GO:0005249	9.93	KCNQ1 KCNE2 KCNA5
6	delayed rectifier potassium channel activity	GO:0005251	9.91	KCNA5 KCNE2 KCNQ1
7	sodium channel regulator activity	GO:0017080	9.88	SCN4B SCN3B SCN2B
8	voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization	GO:0086008	9.81	KCNJ2 KCNQ1
9	NFAT protein binding	GO:0051525	9.8	GATA6 GATA4
10	voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization	GO:0086089	9.78	KCNQ1 KCNA5
11	voltage-gated sodium channel activity	GO:0005248	9.77	SCN5A SCN4B SCN2B
12	voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	GO:1902282	9.73	KCNE2 KCNQ1 SCN2B
13	cis-regulatory region sequence-specific DNA binding	GO:0000987	9.72	GATA6 GATA5 GATA4
14	potassium channel activity	GO:0005267	9.7	KCNQ1 KCNE2 KCNA5
15	voltage-gated sodium channel activity involved in cardiac muscle cell action potential	GO:0086006	9.56	SCN5A SCN4B SCN3B SCN2B
16	sodium channel activity	GO:0005272	9.46	SCN5A SCN4B SCN3B SCN2B
17	voltage-gated monoatomic ion channel activity	GO:0005244	9.36	SCN5A SCN4B SCN3B SCN2B KCNQ1 KCNJ2