MCID: FML001
MIFTS: 54

Familial Atrial Fibrillation

Categories: Rare diseases, Genetic diseases, Cardiovascular diseases

Aliases & Classifications for Familial Atrial Fibrillation

MalaCards integrated aliases for Familial Atrial Fibrillation:

Name: Familial Atrial Fibrillation 12 50 24 25 56 29 14 69
Atrial Fibrillation, Familial 50 52
Atfb 12 50
Atrial Fibrillation Autosomal Dominant 50
Autosomal Dominant Atrial Fibrillation 50
Atrial Fibrillation, Familial, 1 69
Auricular Fibrillation 25
Atrial Fibrillation 69

Characteristics:

Orphanet epidemiological data:

56
familial atrial fibrillation
Inheritance: Autosomal dominant;

Classifications:



External Ids:

Disease Ontology 12 DOID:0050650
Orphanet 56 ORPHA334
ICD10 via Orphanet 34 I48.9

Summaries for Familial Atrial Fibrillation

NIH Rare Diseases : 50 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). signs and symptoms may include dizziness, chest pain, palpitations, shortness of breath, or fainting. affected people also have an increased risk of stroke and sudden death. while complications may occur at any age, some affected people never have associated health problems. familial atrial fibrillation may be caused by changes (mutations) 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. last updated: 11/9/2015

MalaCards based summary : Familial Atrial Fibrillation, also known as atrial fibrillation, familial, is related to atrial fibrillation, familial, 3 and atrial fibrillation, familial, 10, 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 G-Beta Gamma Signaling and Vascular smooth muscle contraction. The drugs Amlodipine and Atenolol have been mentioned in the context of this disorder. Affiliated tissues include heart, and related phenotypes are cardiovascular system and homeostasis/metabolism

Disease Ontology : 12 An atrial fibrillation that has material basis in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes.

Genetics Home Reference : 25 Familial atrial fibrillation is an inherited condition that disrupts the heart's normal rhythm. This condition is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular. If untreated, this abnormal heart rhythm 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 familial atrial fibrillation can occur at any age, although some people with this heart condition never experience any health problems associated with the disorder.

Related Diseases for Familial Atrial Fibrillation

Diseases in the Atrial Fibrillation family:

Atrial Fibrillation, Familial, 6 Atrial Fibrillation, Familial, 11
Atrial Fibrillation, Familial, 10 Atrial Fibrillation, Familial, 5
Atrial Fibrillation 15 Atrial Fibrillation, Familial, 2
Atrial Fibrillation, Familial, 1 Atrial Fibrillation, Familial, 3
Atrial Fibrillation, Familial, 14 Atrial Fibrillation, Familial, 7
Atrial Fibrillation, Familial, 12 Atrial Fibrillation, Familial, 8
Atrial Fibrillation, Familial, 18 Atrial Fibrillation, Familial, 9
Atrial Fibrillation, Familial, 13 Atrial Fibrillation, Familial, 4
Familial Atrial Fibrillation Kcne5-Related Atrial Fibrillation
Nppa-Related Familial Atrial Fibrillation 6 Abcc9-Related Familial Atrial Fibrillation
Gja5-Related Familial Atrial Fibrillation Kcna5-Related Familial Atrial Fibrillation
Kcne2-Related Familial Atrial Fibrillation Kcnj2-Related Familial Atrial Fibrillation
Kcnq1-Related Familial Atrial Fibrillation Myl4-Related Familial Atrial Fibrillation
Scn1b-Related Familial Atrial Fibrillation Scn2b-Related Familial Atrial Fibrillation
Scn3b-Related Familial Atrial Fibrillation Scn5a-Related Familial Atrial Fibrillation

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

(show top 50) (show all 83)
id Related Disease Score Top Affiliating Genes
1 atrial fibrillation, familial, 3 34.5 KCNE1 KCNE2 KCNQ1 SCN4B SCN5A
2 atrial fibrillation, familial, 10 34.1 KCNQ1 SCN2B SCN3B SCN4B SCN5A
3 atrial fibrillation, familial, 13 32.5 SCN1B SCN5A
4 atrial fibrillation, familial, 7 12.3
5 abcc9-related familial atrial fibrillation 12.0
6 gja5-related familial atrial fibrillation 12.0
7 kcna5-related familial atrial fibrillation 12.0
8 kcne2-related familial atrial fibrillation 12.0
9 kcnj2-related familial atrial fibrillation 12.0
10 kcnq1-related familial atrial fibrillation 12.0
11 myl4-related familial atrial fibrillation 12.0
12 scn1b-related familial atrial fibrillation 12.0
13 scn2b-related familial atrial fibrillation 12.0
14 scn3b-related familial atrial fibrillation 12.0
15 scn5a-related familial atrial fibrillation 12.0
16 nppa-related familial atrial fibrillation 6 12.0
17 atrial fibrillation, familial, 11 10.9
18 atrial fibrillation, familial, 14 10.9
19 atrial fibrillation, familial, 12 10.9
20 inferior vena cava interruption 10.9 GATA4 GATA6
21 pasli disease 10.9 GATA4 GATA6
22 chondromyxoid fibroma 10.8 GATA5 NKX2-5
23 chronic beryllium disease 10.8 GJA5 NPPA SCN5A
24 mental retardation, autosomal dominant 11 10.8 KCNE1 KCNE2 KCNQ1 SCN5A
25 brugada syndrome 1 10.8 KCNE1 KCNE2 KCNQ1 SCN5A
26 ventricular tachycardia, catecholaminergic polymorphic, 1 10.8 KCNJ2 KCNQ1 SCN5A
27 sick sinus syndrome 1 10.8 KCNE1 KCNE2 KCNQ1 SCN5A
28 ventricular fibrillation, familial, 1 10.8 GJA5 SCN5A
29 syne1-related emery-dreifuss muscular dystrophy 10.8 KCNE1 KCNJ2 KCNQ1 SCN5A
30 vascular erectile tumor 10.8 KCNJ2 KCNQ1 NPPA SCN5A
31 cardiac conduction disease with or without dilated cardiomyopathy 10.8 KCNQ1 SCN5A
32 microvillus inclusion disease 10.8 KCNE2 KCNJ2 SCN5A
33 third-degree atrioventricular block 10.8 GJA5 SCN5A
34 acute poisoning by drugs with membrane-stabilizing effect 10.8 KCNJ2 KCNQ1
35 familial thoracic aortic aneurysm and dissection 10.7 NKX2-5 SCN1B SCN5A
36 atrial standstill, digenic 10.7 GJA5 SCN1B SCN5A
37 cervical serous adenocarcinoma 10.7 GATA4 GATA6 NKX2-6
38 intellectual disability-cataracts-kyphosis syndrome 10.7 KCNE1 KCNE2 KCNJ2 KCNQ1 SCN5A
39 keppen-lubinsky syndrome 10.7 KCNE1 KCNE2 KCNJ2 KCNQ1 SCN5A
40 artery disease 10.7 GATA6 NKX2-5 NKX2-6
41 thyroid lymphoma 10.7 GJA5 SCN1B SCN5A
42 zttk syndrome 10.7 KCNE1 KCNE2 KCNJ2 KCNQ1 SCN5A
43 short qt syndrome 1 10.7 KCNE1 KCNE2 KCNJ2 KCNQ1 SCN5A
44 autoimmune disease of skin and connective tissue 10.7 KCNE1 KCNE2 KCNJ2 KCNQ1 SCN5A
45 hyperaldosteronism, familial, type iii 10.7 KCNQ1 SCN5A
46 pigment dispersion syndrome 10.7 KCNE1 KCNE2 KCNJ2 KCNQ1 SCN5A
47 macroglossia 10.7 GATA4 NKX2-5 NKX2-6
48 optic nerve disease 10.7 GATA4 NKX2-5 NKX2-6
49 ichthyosis lamellar 2 10.6 GATA5 NKX2-5 NKX2-6 NPPA
50 craniosynostosis 7 10.6 MYL4 NKX2-6 NPPA

Comorbidity relations with Familial Atrial Fibrillation via Phenotypic Disease Network (PDN): (show top 50) (show all 177)


Accessory Nerve Disease Acquired Polycythemia
Acquired Thrombocytopenia Active Peptic Ulcer Disease
Acute Conjunctivitis Acute Cor Pulmonale
Acute Cystitis Acute Kidney Failure
Acute Myocardial Infarction Alcohol Abuse
Alcoholic Cardiomyopathy Alcoholic Liver Cirrhosis
Amyloidosis Anthracosis
Anxiety Disorder Aortic Aneurysm
Aortic Atherosclerosis Aortic Valve Disease 2
Aortic Valve Insufficiency Aplastic Anemia
Asbestosis Asthma Susceptibility, Phf11-Related
Atrial Tachyarrhythmia with Short Pr Interval Atrioventricular Block
Autoimmune Hemolytic Anemia Bacteremia
Basilar Artery Insufficiency Benign Essential Hypertension
Bleeding Disorder, Platelet-Type, 11 Blepharitis
Bronchiectasis Bronchitis
Bronchopneumonia Candidiasis
Cardiac Arrest Cardiogenic Shock
Cardiomyopathy, Familial Hypertrophic Cerebral Atherosclerosis
Cerebral Degeneration Cerebrovascular Disease
Cholangitis Cholecystitis
Chronic Kidney Failure Chronic Myocardial Ischemia
Chronic Pulmonary Heart Disease Chronic Rheumatic Pericarditis
Chronic Ulcer of Skin Colorectal Cancer
Congenital Aortic Valve Insufficiency Conjunctivitis

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



Diseases related to Familial Atrial Fibrillation

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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.21 KCNA5 KCNJ2 KCNQ1 NKX2-5 NKX2-6 NPPA
2 homeostasis/metabolism MP:0005376 10.1 KCNQ1 MYL4 NKX2-5 NKX2-6 NPPA PITX2
3 digestive/alimentary MP:0005381 9.92 PITX2 GATA4 GATA5 GJA5 KCNE2 KCNJ2
4 muscle MP:0005369 9.9 GATA4 GATA5 GATA6 GJA5 KCNA5 KCNJ2
5 normal MP:0002873 9.65 GATA4 GATA6 GJA5 KCNQ1 NKX2-5 NKX2-6
6 respiratory system MP:0005388 9.17 GATA6 GJA5 KCNJ2 NKX2-5 NKX2-6 PITX2

Drugs & Therapeutics for Familial Atrial Fibrillation

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

(show top 50) (show all 65)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amlodipine Approved Phase 4 88150-42-9 2162
2
Atenolol Approved Phase 4 29122-68-7 2249
3
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
4
Quinapril Approved, Investigational Phase 4 85441-61-8 54892
5
Terazosin Approved Phase 4 63590-64-7 5401
6
Apixaban Approved Phase 4,Phase 3 503612-47-3 10182969
7
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
8
Menadione Approved, Nutraceutical Phase 4,Phase 3 58-27-5 4055
9
Phytonadione Approved, Nutraceutical Phase 4,Phase 3 84-80-0 4812 5284607
10 Anti-Arrhythmia Agents Phase 4
11 Anticoagulants Phase 4,Phase 3
12 Adrenergic Agents Phase 4
13 Adrenergic alpha-1 Receptor Antagonists Phase 4
14 Adrenergic alpha-Antagonists Phase 4
15 Adrenergic Antagonists Phase 4
16 Adrenergic beta-1 Receptor Antagonists Phase 4
17 Adrenergic beta-Antagonists Phase 4
18 Angiotensin-Converting Enzyme Inhibitors Phase 4
19 Antihypertensive Agents Phase 4
20 Autonomic Agents Phase 4
21 calcium channel blockers Phase 4
22 Calcium, Dietary Phase 4
23 diuretics Phase 4
24 HIV Protease Inhibitors Phase 4,Phase 3
25 Natriuretic Agents Phase 4
26 Neurotransmitter Agents Phase 4
27 Peripheral Nervous System Agents Phase 4
28
protease inhibitors Phase 4,Phase 3
29 Sodium Chloride Symporter Inhibitors Phase 4
30 Sympatholytics Phase 4
31 Vasodilator Agents Phase 4
32 Antifibrinolytic Agents Phase 4,Phase 3
33 Antithrombin III Phase 4,Phase 3
34 Antithrombins Phase 4,Phase 3
35 Coagulants Phase 4,Phase 3
36 Factor Xa Inhibitors Phase 4,Phase 3
37 Hemostatics Phase 4,Phase 3
38 Micronutrients Phase 4,Phase 3
39 Serine Proteinase Inhibitors Phase 4,Phase 3
40 Trace Elements Phase 4,Phase 3
41 Vitamins Phase 4,Phase 3
42 Analgesics Phase 4
43 Analgesics, Non-Narcotic Phase 4
44 Anti-Inflammatory Agents Phase 4
45 Anti-Inflammatory Agents, Non-Steroidal Phase 4
46 Antipyretics Phase 4
47 Antirheumatic Agents Phase 4
48 Cyclooxygenase Inhibitors Phase 4
49 Fibrinolytic Agents Phase 4
50 Platelet Aggregation Inhibitors Phase 4

Interventional clinical trials:

(show all 31)

id Name Status NCT ID Phase Drugs
1 Atrial Substrate Modification With Aggressive Blood Pressure Lowering to Prevent AF Completed NCT00438113 Phase 4 Aggressive Blood Pressure control
2 Atrial Fibrillation Progression Trial Recruiting NCT01570361 Phase 4 Drug Treatment
3 A Study of Apixaban in Patients With Atrial Fibrillation, Not Caused by a Heart Valve Problem, Who Are at Risk for Thrombosis (Blood Clots) Due to Having Had a Recent Coronary Event, Such as a Heart Attack or a Procedure to Open the Vessels of the Heart Recruiting NCT02415400 Phase 4 Apixaban;vitamin K antagonist;Acetylsalicylic acid
4 Apixaban for the Prevention of Stroke in Subjects With Atrial Fibrillation Completed NCT00412984 Phase 3 warfarin;apixaban
5 Evaluating the Use of SR34006 Compared to Warfarin or Acenocoumarol in Patients With Atrial Fibrillation (AMADEUS) Completed NCT00070655 Phase 3 SR34006 (idraparinux sodium) Injection;vitamin K antagonist (warfarin or acenocoumarol) tablets
6 SMART-SF Radiofrequency Ablation Safety Study Active, not recruiting NCT02359890 Phase 3
7 nMARQ™ Pulmonary Vein Isolation System for the Treatment of Paroxysmal Atrial Fibrillation Active, not recruiting NCT01824394 Phase 3
8 Arrhythmia Prevention With an Alpha-Linolenic Enriched Diet Completed NCT00410020 Phase 2
9 Safety and Pharmacokinetic Study of OMT-28 in Healthy Subjects Recruiting NCT03078738 Phase 1 OMT-28
10 Role of SNP and DIGOXIN Response in Atrial Fibrillation Patients Unknown status NCT02167165 Digoxin
11 Oral Anticoagulation and Self-management Unknown status NCT01878539
12 Program for the Identification of "Actionable" Atrial Fibrillation in the Family Practice Setting Completed NCT02262351
13 Effectiveness of Early Detection of Atrial Fibrillation Completed NCT01291953
14 Digoxin Versus Ivabradine in Heart Failure With Preserved Systolic Function Completed NCT01796093 Digoxin and ivabradine
15 Warfarin Patient Self-Monitoring Completed NCT00925028 Warfarin;Warfarin
16 Assessment of International Normalized Ratio (INR) Prolongation in Patients Treated Simultaneously With Warfarin and Cephalosporins Completed NCT01857050
17 Prevalence of Sub-Clinical Atrial Fibrillation in Elderly Patients With Hypertension, Detected Using an External Loop Recorder Completed NCT02401854
18 Assessing the Ability of Warfarin Treated Patients to Predict Their INR Completed NCT02764112
19 DATAS: The Dual Chamber & Atrial Tachyarrhythmias Adverse Events Study Completed NCT00157820
20 Genotype-Guided Warfarin Therapy Trial Completed NCT00904293
21 Predictors for Postoperative Delirium After Cardiac Surgery in Adults: a One-year, Single Center, Observational Cohort Study Completed NCT02613845
22 The Effect of Nurse Practitioner Led-Care on Quality of Life in Patients With Atrial Fibrillation Recruiting NCT02745236
23 Outcomes Registry for Better Informed Treatment of Atrial Fibrillation II (ORBIT-AF II) Recruiting NCT01701817
24 Home-Based Screening for Early Detection of Atrial Fibrillation in Primary Care Patients Aged 75 Years and Older Recruiting NCT02392754
25 Stroke Prevention and Treatment System in Shanghai: a Network of Public Healthcare of Stroke Recruiting NCT02735226
26 Searching for Explanations for Cryptogenic Stroke in the Young: Revealing the Etiology, Triggers, and Outcome Recruiting NCT01934725
27 Use of the Hansen Medical System in Patients With Paroxysmal Atrial Fibrillation Active, not recruiting NCT01122173
28 Canadian Community Utilization of Stroke Prevention Study - Emergency Department Active, not recruiting NCT02358655
29 Genomic Investigation of Cardiovascular Diseases Active, not recruiting NCT00722748
30 Mayo AVC Registry and BioBank Enrolling by invitation NCT03049254
31 Disease Prevention in Clinical Practice Base on Patient Specific Physiology Enrolling by invitation NCT03308773

Search NIH Clinical Center for Familial Atrial Fibrillation

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Genetic Tests for Familial Atrial Fibrillation

Genetic tests related to Familial Atrial Fibrillation:

id Genetic test Affiliating Genes
1 Familial Atrial Fibrillation 29 24

Anatomical Context for Familial Atrial Fibrillation

MalaCards organs/tissues related to Familial Atrial Fibrillation:

39
Heart

Publications for Familial Atrial Fibrillation

Articles related to Familial Atrial Fibrillation:

(show all 45)
id Title Authors Year
1
Familial clustering of atrial fibrillation and comparative longitudinal outcomes of familial and non-familial atrial fibrillation. ( 28485191 )
2017
2
A frameshift deletion in the sarcomere gene MYL4 causes early-onset familial atrial fibrillation. ( 27742809 )
2017
3
Generation and cardiac subtype-specific differentiation of PITX2-deficient human iPS cell lines for exploring familial atrial fibrillation. ( 28677534 )
2017
4
Prognosis in Familial Atrial Fibrillation. ( 27866163 )
2016
5
A mutation in the atrial-specific myosin light chain gene (MYL4) causes familial atrial fibrillation. ( 27066836 )
2016
6
A novel PITX2c loss-of-function mutation associated with familial atrial fibrillation. ( 24333117 )
2014
7
NKX2-6 mutation predisposes to familial atrial fibrillation. ( 25319568 )
2014
8
Whole-exome sequencing in familial atrial fibrillation. ( 24727801 )
2014
9
In silico investigation of a KCNQ1 mutation associated with familial atrial fibrillation. ( 24411289 )
2013
10
A KCNQ1 mutation causes a high penetrance for familial atrial fibrillation. ( 23350853 )
2013
11
Mutations of the SCN4B-encoded sodium channel I^4 subunit in familial atrial fibrillation. ( 23604097 )
2013
12
Familial atrial fibrillation predicts increased risk of mortality: a study in Danish twins. ( 23255276 )
2013
13
Prevalence and spectrum of PITX2c mutations associated with familial atrial fibrillation. ( 23611745 )
2013
14
Characteristics of atrial fibrillation and comorbidities in familial atrial fibrillation. ( 23551519 )
2013
15
A novel NKX2.5 loss-of-function mutation responsible for familial atrial fibrillation. ( 23525379 )
2013
16
Mutations in the potassium channel subunit KCNE1 are associated with early-onset familial atrial fibrillation. ( 22471742 )
2012
17
Prevalence and spectrum of GATA6 mutations associated with familial atrial fibrillation. ( 22257684 )
2012
18
Novel GATA5 loss-of-function mutations underlie familial atrial fibrillation. ( 23295592 )
2012
19
Mutational spectrum of the GATA5 gene associated with familial atrial fibrillation. of Shanghai Jiaotong University, Shanghai 200030, China. ( 22483626 )
2012
20
Chromosome 4q25 variants are genetic modifiers of rare ion channel mutations associated with familial atrial fibrillation. ( 22818067 )
2012
21
Novel GATA6 loss-of-function mutation responsible for familial atrial fibrillation. ( 22824924 )
2012
22
GATA4 loss-of-function mutations in familial atrial fibrillation. ( 21708142 )
2011
23
R231C mutation in KCNQ1 causes long QT syndrome type 1 and familial atrial fibrillation. ( 20850564 )
2011
24
Augmented potassium current is a shared phenotype for two genetic defects associated with familial atrial fibrillation. ( 19646991 )
2010
25
Association between familial atrial fibrillation and risk of new-onset atrial fibrillation. ( 21076174 )
2010
26
Connexin40 nonsense mutation in familial atrial fibrillation. ( 20818502 )
2010
27
Novel connexin40 missense mutations in patients with familial atrial fibrillation. ( 20650941 )
2010
28
Laminopathy presenting as familial atrial fibrillation. ( 20472316 )
2010
29
Genetics of familial atrial fibrillation. ( 19666641 )
2009
30
A mutation in the sodium channel is responsible for the association of long QT syndrome and familial atrial fibrillation. ( 18929331 )
2008
31
Atrial natriuretic peptide frameshift mutation in familial atrial fibrillation. ( 18614783 )
2008
32
Percutenous catheter ablation of the accessory pathway in a patient with wolff-Parkinson-white syndrome associated with familial atrial fibrillation. ( 18379660 )
2008
33
Prolonged signal-averaged P-wave duration as an intermediate phenotype for familial atrial fibrillation. ( 18342226 )
2008
34
A novel SCN5A gain-of-function mutation M1875T associated with familial atrial fibrillation. ( 18929244 )
2008
35
Mapping a novel locus for familial atrial fibrillation on chromosome 10p11-q21. ( 17399636 )
2007
36
[KCNE3 R53H substitution in familial atrial fibrillation]. ( 16313760 )
2005
37
A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation. ( 15922306 )
2005
38
Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation. ( 15368194 )
2004
39
Familial atrial fibrillation is a genetically heterogeneous disorder. ( 12821245 )
2003
40
KCNQ1 gain-of-function mutation in familial atrial fibrillation. ( 12522251 )
2003
41
Familial atrial fibrillation with fetal onset. ( 9538316 )
1998
42
Identification of a genetic locus for familial atrial fibrillation. ( 9070470 )
1997
43
Familial atrial fibrillation. ( 9235505 )
1997
44
Clinical study of 9 familial atrial fibrillation cases. ( 6414778 )
1983
45
FAMILIAL ATRIAL FIBRILLATION. ( 14098892 )
1963

Variations for Familial Atrial Fibrillation

ClinVar genetic disease variations for Familial Atrial Fibrillation:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MYL4 NM_001002841.1(MYL4): c.31G> A (p.Glu11Lys) single nucleotide variant Pathogenic rs886037778 GRCh37 Chromosome 17, 45286819: 45286819

Expression for Familial Atrial Fibrillation

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

Pathways for Familial Atrial Fibrillation

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

(show all 15)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.71 SCN1B SCN2B SCN3B SCN4B SCN5A
2
Show member pathways
12.69 GATA4 KCNE1 KCNJ2 KCNQ1 MYL4 SCN1B
3
Show member pathways
12.53 SCN1B SCN2B SCN3B SCN4B SCN5A
4
Show member pathways
12.5 GATA4 KCNE1 KCNE2 KCNJ2 KCNQ1 MYL4
5 12.25 KCNA5 KCNE1 KCNE2 KCNJ2 KCNQ1
6 12.02 KCNQ1 SCN3B SCN4B SCN5A
7
Show member pathways
11.9 SCN1B SCN2B SCN3B SCN4B SCN5A
8
Show member pathways
11.63 KCNE1 KCNE2 KCNQ1 SCN1B SCN2B SCN3B
9 11.42 GATA4 NKX2-5 SCN5A
10 11.4 GATA4 GATA6 NKX2-5 PITX2
11 11.13 SCN1B SCN2B SCN3B SCN4B SCN5A
12 11.11 GJA5 KCNA5 KCNE1 KCNE2 KCNJ2 KCNQ1
13 11 GATA4 NKX2-5 NPPA
14 10.91 KCNE1 KCNJ2 KCNQ1
15 10.32 GATA4 NKX2-5 NPPA

GO Terms for Familial Atrial Fibrillation

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

id Name GO ID Score Top Affiliating Genes
1 transcription factor complex GO:0005667 9.67 GATA5 GATA6 NKX2-5 PITX2
2 Z disc GO:0030018 9.56 KCNA5 KCNE1 SCN3B SCN5A
3 voltage-gated potassium channel complex GO:0008076 9.55 KCNA5 KCNE1 KCNE2 KCNJ2 KCNQ1
4 T-tubule GO:0030315 9.5 KCNJ2 SCN1B SCN5A
5 intercalated disc GO:0014704 9.43 GJA5 KCNA5 KCNJ2 SCN1B SCN4B SCN5A
6 voltage-gated sodium channel complex GO:0001518 9.02 SCN1B SCN2B SCN3B SCN4B SCN5A

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

(show top 50) (show all 65)
id Name GO ID Score Top Affiliating Genes
1 regulation of postsynaptic membrane potential GO:0060078 9.96 SCN1B SCN2B SCN3B SCN4B SCN5A
2 ventricular cardiac muscle cell action potential GO:0086005 9.91 GJA5 KCNE1 KCNE2 KCNQ1 SCN3B SCN5A
3 male gonad development GO:0008584 9.9 GATA4 GATA6 PITX2
4 cardiac muscle cell differentiation GO:0055007 9.89 GATA4 GATA6 NKX2-5 PITX2
5 positive regulation of sodium ion transport GO:0010765 9.89 NKX2-5 SCN1B SCN3B SCN4B SCN5A
6 regulation of sodium ion transmembrane transporter activity GO:2000649 9.88 SCN1B SCN2B SCN3B SCN4B
7 atrial cardiac muscle cell action potential GO:0086014 9.88 KCNA5 KCNQ1 NUP155 SCN3B SCN5A
8 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.88 KCNJ2 SCN1B SCN2B SCN3B SCN4B SCN5A
9 ventricular septum morphogenesis GO:0060412 9.87 GJA5 NKX2-5 PITX2
10 membrane depolarization GO:0051899 9.86 SCN1B SCN3B SCN5A
11 cardiac muscle contraction GO:0060048 9.86 KCNQ1 MYL4 NKX2-5 SCN1B SCN2B SCN3B
12 cardiac muscle tissue development GO:0048738 9.85 GATA6 NKX2-5 PITX2
13 positive regulation of heart rate GO:0010460 9.85 KCNQ1 NPPA SCN3B
14 embryonic heart tube development GO:0035050 9.85 GJA5 NKX2-5 NKX2-6
15 positive regulation of potassium ion transmembrane transport GO:1901381 9.85 KCNE1 KCNJ2 KCNQ1
16 potassium ion export GO:0071435 9.85 KCNA5 KCNE1 KCNE2 KCNQ1
17 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.85 GJA5 SCN1B SCN2B SCN3B SCN5A
18 atrial septum morphogenesis GO:0060413 9.84 GATA4 GJA5 NKX2-5
19 regulation of cardiac muscle cell contraction GO:0086004 9.83 GATA4 KCNJ2 SCN5A
20 regulation of membrane repolarization GO:0060306 9.83 KCNE2 KCNJ2 KCNQ1
21 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.83 KCNA5 KCNQ1 NPPA SCN5A
22 membrane repolarization GO:0086009 9.82 KCNE1 KCNE2 KCNQ1
23 ventricular cardiac muscle cell development GO:0055015 9.82 NKX2-5 NKX2-6 PITX2
24 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.81 KCNE1 KCNJ2 KCNQ1
25 membrane repolarization during action potential GO:0086011 9.81 KCNE1 KCNE2 KCNJ2 KCNQ1
26 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.8 GJA5 SCN3B SCN5A
27 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.79 KCNE1 KCNE2 KCNQ1
28 intestinal epithelial cell differentiation GO:0060575 9.79 GATA4 GATA5 GATA6
29 SA node cell action potential GO:0086015 9.78 GJA5 SCN3B SCN5A
30 positive regulation of cardioblast differentiation GO:0051891 9.76 GATA4 GATA6 NKX2-5
31 cardiac conduction GO:0061337 9.76 GJA5 KCNE1 KCNE2 KCNJ2 KCNQ1 SCN1B
32 response to vitamin A GO:0033189 9.73 GATA4 PITX2
33 pharyngeal system development GO:0060037 9.73 NKX2-5 NKX2-6
34 cell growth involved in cardiac muscle cell development GO:0061049 9.73 GATA4 NPPA
35 regulation of potassium ion transmembrane transport GO:1901379 9.73 KCNE1 KCNE2
36 cardiovascular system development GO:0072358 9.72 KCNQ1 NKX2-5
37 cardiac muscle hypertrophy in response to stress GO:0014898 9.72 GATA6 NPPA
38 tongue development GO:0043586 9.72 KCNE2 NKX2-6
39 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.72 KCNE1 KCNE2
40 positive regulation of cardiac muscle contraction GO:0060452 9.71 KCNQ1 NPPA
41 cardiac ventricle morphogenesis GO:0003208 9.71 GATA4 NKX2-5
42 regulation of delayed rectifier potassium channel activity GO:1902259 9.71 KCNE1 KCNE2
43 positive regulation of myoblast proliferation GO:2000288 9.71 KCNA5 PITX2
44 cardiac conduction system development GO:0003161 9.71 GJA5 NKX2-5
45 membrane repolarization during atrial cardiac muscle cell action potential GO:0098914 9.7 KCNA5 KCNQ1
46 AV node cell action potential GO:0086016 9.7 SCN4B SCN5A
47 response to pyrethroid GO:0046684 9.7 SCN1B SCN2B
48 AV node cell to bundle of His cell communication GO:0086067 9.69 GJA5 SCN5A
49 pulmonary myocardium development GO:0003350 9.69 NKX2-5 PITX2
50 atrial cardiac muscle cell development GO:0055014 9.69 NKX2-5 NKX2-6

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

(show all 23)
id Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.97 GATA4 GATA5 GATA6 NKX2-5 PITX2
2 transcription factor binding GO:0008134 9.91 GATA4 GATA6 NKX2-5 PITX2
3 transcription regulatory region DNA binding GO:0044212 9.9 GATA4 GATA5 GATA6 NKX2-5
4 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding GO:0001228 9.85 GATA4 GATA5 GATA6 NKX2-5
5 ion channel binding GO:0044325 9.83 KCNE2 KCNQ1 SCN3B SCN4B SCN5A
6 potassium channel activity GO:0005267 9.8 KCNA5 KCNE1 KCNE2 KCNQ1
7 voltage-gated potassium channel activity GO:0005249 9.78 KCNA5 KCNE1 KCNE2 KCNQ1
8 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.77 GATA5 GATA6 NKX2-5
9 scaffold protein binding GO:0097110 9.74 KCNA5 KCNQ1 SCN5A
10 RNA polymerase II transcription factor binding GO:0001085 9.73 GATA4 GATA5 GATA6
11 sodium channel regulator activity GO:0017080 9.67 SCN1B SCN2B SCN3B SCN4B
12 sodium channel activity GO:0005272 9.65 SCN1B SCN2B SCN3B SCN4B SCN5A
13 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.63 KCNE1 KCNE2 KCNQ1
14 delayed rectifier potassium channel activity GO:0005251 9.62 KCNA5 KCNE1 KCNE2 KCNQ1
15 inward rectifier potassium channel activity GO:0005242 9.61 KCNE2 KCNJ2
16 outward rectifier potassium channel activity GO:0015271 9.58 KCNA5 KCNQ1
17 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.58 KCNE1 KCNJ2 KCNQ1
18 voltage-gated sodium channel activity GO:0005248 9.55 SCN1B SCN2B SCN3B SCN4B SCN5A
19 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization GO:0086089 9.52 KCNA5 KCNQ1
20 voltage-gated sodium channel activity involved in Purkinje myocyte action potential GO:0086062 9.51 SCN1B SCN5A
21 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.35 SCN1B SCN2B SCN3B SCN4B SCN5A
22 voltage-gated ion channel activity GO:0005244 9.28 KCNA5 KCNE2 KCNJ2 KCNQ1 SCN1B SCN2B
23 sequence-specific DNA binding GO:0043565 10.01 GATA4 GATA5 GATA6 NKX2-5 NKX2-6 PITX2

Sources for Familial Atrial Fibrillation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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