MCID: FML001
MIFTS: 55

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 49 24 55 28 14 69
Atrial Fibrillation, Familial 49 24 51
Atfb 12 49
Atrial Fibrillation Autosomal Dominant 49
Autosomal Dominant Atrial Fibrillation 49
Atrial Fibrillation, Familial, 1 69
Auricular Fibrillation 24
Atrial Fibrillation 69

Characteristics:

Orphanet epidemiological data:

55
familial atrial fibrillation
Inheritance: Autosomal dominant;

Classifications:



External Ids:

Disease Ontology 12 DOID:0050650
Orphanet 55 ORPHA334
ICD10 via Orphanet 33 I48.9

Summaries for Familial Atrial Fibrillation

NIH Rare Diseases : 49 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 long qt syndrome and atrial fibrillation, and has symptoms including edema, chest pain and angina pectoris. An important gene associated with Familial Atrial Fibrillation is MYL4 (Myosin Light Chain 4), and among its related pathways/superpathways are Cardiac conduction and BMP Pathway. 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 : 24 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.

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 64)
# Related Disease Score Top Affiliating Genes
1 long qt syndrome 30.5 KCNA5 KCNE2 KCNJ2 KCNQ1 SCN4B SCN5A
2 atrial fibrillation 29.8 ATFB1 ATFB2 ATFB5 GATA5 GATA6 GJA5
3 atrial fibrillation, familial, 3 12.4
4 atrial fibrillation, familial, 6 12.4
5 atrial fibrillation, familial, 7 12.4
6 atrial fibrillation, familial, 10 12.4
7 atrial fibrillation, familial, 1 11.2
8 atrial fibrillation, familial, 11 11.0
9 atrial fibrillation, familial, 12 11.0
10 atrial fibrillation, familial, 13 11.0
11 atrial fibrillation, familial, 14 11.0
12 long qt syndrome 12 10.6 KCNE2 KCNQ1 SCN5A
13 partial atrioventricular canal 10.6 GATA4 GATA6
14 long qt syndrome 3 10.6 KCNE2 KCNQ1 SCN5A
15 complete atrioventricular canal-ventricle hypoplasia syndrome 10.6 GATA4 GATA6
16 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.6 KCNJ2 KCNQ1 SCN5A
17 familial progressive cardiac conduction defect 10.6 NKX2-5 SCN5A
18 cardiac arrhythmia 10.6 KCNE2 KCNQ1 SCN5A
19 atrial standstill 10.6 GJA5 NPPA SCN5A
20 ventricular fibrillation, paroxysmal familial, 1 10.6 KCNE2 KCNQ1 SCN5A
21 familial long qt syndrome 10.6 KCNE2 KCNJ2 KCNQ1 SCN5A
22 long qt syndrome 6 10.6 KCNE2 KCNJ2 KCNQ1 SCN5A
23 familial bicuspid aortic valve 10.6 GATA5 NKX2-5
24 syncope 10.6 KCNJ2 KCNQ1 NPPA SCN5A
25 long qt syndrome 5 10.6 KCNE2 KCNJ2 KCNQ1 SCN5A
26 long qt syndrome 2 10.6 KCNE2 KCNJ2 KCNQ1 SCN5A
27 andersen cardiodysrhythmic periodic paralysis 10.6 KCNE2 KCNJ2 KCNQ1 SCN5A
28 progressive familial heart block, type ia 10.6 GJA5 SCN5A
29 intrinsic cardiomyopathy 10.6 KCNE2 KCNJ2 KCNQ1 SCN5A
30 cardiac conduction disease with or without dilated cardiomyopathy 10.6 KCNQ1 SCN5A
31 jervell and lange-nielsen syndrome 1 10.6 KCNE2 KCNQ1 SCN4B SCN5A
32 first-degree atrioventricular block 10.6 GJA5 SCN5A
33 catecholaminergic polymorphic ventricular tachycardia 10.6 KCNE2 KCNJ2 KCNQ1 SCN5A
34 familial short qt syndrome 10.6 KCNJ2 KCNQ1
35 heart conduction disease 10.5 GJA5 KCNA5 KCNJ2 KCNQ1 SCN5A
36 long qt syndrome 13 10.5 KCNQ1 SCN5A
37 heart septal defect 10.5 GATA4 GATA6 NKX2-5
38 hypoplastic left heart syndrome 10.5 GATA5 NKX2-5 NPPA
39 atrioventricular septal defect 10.5 GATA4 GATA6 NKX2-5
40 right bundle branch block 10.5 SCN2B SCN3B SCN5A
41 long qt syndrome 1 10.5 KCNE2 KCNJ2 KCNQ1 SCN4B SCN5A
42 transposition of the great arteries 10.5 GATA4 GATA6 NKX2-5 PITX2
43 ventricular septal defect 10.5 GATA4 GATA5 GATA6 NKX2-5
44 short qt syndrome 10.5 KCNE2 KCNJ2 KCNQ1 SCN3B SCN5A
45 third-degree atrioventricular block 10.5 KCNE2 SCN5A
46 atrioventricular block 10.5 GATA4 KCNE2 KCNQ1 NKX2-5 SCN5A
47 patent foramen ovale 10.5 GATA4 GATA6 NKX2-5
48 conotruncal heart malformations 10.4 GATA4 GATA5 GATA6 NKX2-5 PITX2
49 progressive familial heart block 10.4 GJA5 SCN5A
50 sudden infant death syndrome 10.3 KCNQ1 SCN2B SCN3B SCN4B SCN5A

Comorbidity relations with Familial Atrial Fibrillation via Phenotypic Disease Network (PDN): (show top 50) (show all 179)


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 Abuse 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
Cardiac Arrhythmia Cardiogenic Shock
Cerebral Atherosclerosis Cerebral Degeneration
Cerebrovascular Disease Cholangitis
Cholecystitis Chronic Intestinal Vascular Insufficiency
Chronic Kidney Failure Chronic Myocardial Ischemia
Chronic Pulmonary Heart Disease Chronic Rheumatic Pericarditis
Chronic Ulcer of Skin Colorectal Cancer

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:


edema, chest pain, angina pectoris

MGI Mouse Phenotypes related to Familial Atrial Fibrillation:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.13 GATA4 GATA5 GATA6 GJA5 KCNA5 KCNJ2
2 homeostasis/metabolism MP:0005376 9.97 GATA4 GATA5 GATA6 GJA5 KCNA5 KCNE2
3 digestive/alimentary MP:0005381 9.86 GJA5 KCNE2 KCNJ2 KCNQ1 NKX2-5 PITX2
4 muscle MP:0005369 9.7 GATA4 GATA5 GATA6 GJA5 KCNA5 KCNJ2
5 normal MP:0002873 9.23 GATA4 GATA6 GJA5 KCNQ1 NKX2-5 PITX2

Drugs & Therapeutics for Familial Atrial Fibrillation

Genetic Tests for Familial Atrial Fibrillation

Genetic tests related to Familial Atrial Fibrillation:

# Genetic test Affiliating Genes
1 Familial Atrial Fibrillation 28

Anatomical Context for Familial Atrial Fibrillation

MalaCards organs/tissues related to Familial Atrial Fibrillation:

38
Heart

Publications for Familial Atrial Fibrillation

Articles related to Familial Atrial Fibrillation:

(show all 45)
# Title Authors Year
1
A frameshift deletion in the sarcomere gene MYL4 causes early-onset familial atrial fibrillation. ( 27742809 )
2017
2
Familial clustering of atrial fibrillation and comparative longitudinal outcomes of familial and non-familial atrial fibrillation. ( 28485191 )
2017
3
Generation and cardiac subtype-specific differentiation of PITX2-deficient human iPS cell lines for exploring familial atrial fibrillation. ( 28677534 )
2017
4
A mutation in the atrial-specific myosin light chain gene (MYL4) causes familial atrial fibrillation. ( 27066836 )
2016
5
Prognosis in Familial Atrial Fibrillation. ( 27866163 )
2016
6
A novel PITX2c loss-of-function mutation associated with familial atrial fibrillation. ( 24333117 )
2014
7
Whole-exome sequencing in familial atrial fibrillation. ( 24727801 )
2014
8
NKX2-6 mutation predisposes to familial atrial fibrillation. ( 25319568 )
2014
9
Characteristics of atrial fibrillation and comorbidities in familial atrial fibrillation. ( 23551519 )
2013
10
In silico investigation of a KCNQ1 mutation associated with familial atrial fibrillation. ( 24411289 )
2013
11
Mutations of the SCN4B-encoded sodium channel I^4 subunit in familial atrial fibrillation. ( 23604097 )
2013
12
A KCNQ1 mutation causes a high penetrance for familial atrial fibrillation. ( 23350853 )
2013
13
A novel NKX2.5 loss-of-function mutation responsible for familial atrial fibrillation. ( 23525379 )
2013
14
Familial atrial fibrillation predicts increased risk of mortality: a study in Danish twins. ( 23255276 )
2013
15
Prevalence and spectrum of PITX2c mutations associated with familial atrial fibrillation. ( 23611745 )
2013
16
Novel GATA5 loss-of-function mutations underlie familial atrial fibrillation. ( 23295592 )
2012
17
Mutations in the potassium channel subunit KCNE1 are associated with early-onset familial atrial fibrillation. ( 22471742 )
2012
18
Mutational spectrum of the GATA5 gene associated with familial atrial fibrillation. of Shanghai Jiaotong University, Shanghai 200030, China. ( 22483626 )
2012
19
Novel GATA6 loss-of-function mutation responsible for familial atrial fibrillation. ( 22824924 )
2012
20
Prevalence and spectrum of GATA6 mutations associated with familial atrial fibrillation. ( 22257684 )
2012
21
Chromosome 4q25 variants are genetic modifiers of rare ion channel mutations associated with familial atrial fibrillation. ( 22818067 )
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
Novel connexin40 missense mutations in patients with familial atrial fibrillation. ( 20650941 )
2010
25
Augmented potassium current is a shared phenotype for two genetic defects associated with familial atrial fibrillation. ( 19646991 )
2010
26
Connexin40 nonsense mutation in familial atrial fibrillation. ( 20818502 )
2010
27
Association between familial atrial fibrillation and risk of new-onset atrial fibrillation. ( 21076174 )
2010
28
Laminopathy presenting as familial atrial fibrillation. ( 20472316 )
2010
29
Genetics of familial atrial fibrillation. ( 19666641 )
2009
30
A novel SCN5A gain-of-function mutation M1875T associated with familial atrial fibrillation. ( 18929244 )
2008
31
Prolonged signal-averaged P-wave duration as an intermediate phenotype for familial atrial fibrillation. ( 18342226 )
2008
32
Atrial natriuretic peptide frameshift mutation in familial atrial fibrillation. ( 18614783 )
2008
33
A mutation in the sodium channel is responsible for the association of long QT syndrome and familial atrial fibrillation. ( 18929331 )
2008
34
Percutenous catheter ablation of the accessory pathway in a patient with wolff-Parkinson-white syndrome associated with familial atrial fibrillation. ( 18379660 )
2008
35
Mapping a novel locus for familial atrial fibrillation on chromosome 10p11-q21. ( 17399636 )
2007
36
A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation. ( 15922306 )
2005
37
[KCNE3 R53H substitution in familial atrial fibrillation]. ( 16313760 )
2005
38
Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation. ( 15368194 )
2004
39
KCNQ1 gain-of-function mutation in familial atrial fibrillation. ( 12522251 )
2003
40
Familial atrial fibrillation is a genetically heterogeneous disorder. ( 12821245 )
2003
41
Familial atrial fibrillation with fetal onset. ( 9538316 )
1998
42
Familial atrial fibrillation. ( 9235505 )
1997
43
Identification of a genetic locus for familial atrial fibrillation. ( 9070470 )
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
# 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 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.42 GATA4 KCNE2 KCNJ2 KCNQ1 MYL4 NKX2-5
2
Show member pathways
12.27 GATA4 GATA5 GATA6 NKX2-5
3 12.15 KCNA5 KCNE2 KCNJ2 KCNQ1
4 11.97 KCNQ1 SCN3B SCN4B SCN5A
5
Show member pathways
11.83 SCN2B SCN3B SCN4B SCN5A
6
Show member pathways
11.51 KCNE2 KCNQ1 SCN2B SCN3B SCN4B SCN5A
7 11.38 GATA4 NKX2-5 SCN5A
8 11.33 GATA4 GATA6 NKX2-5 PITX2
9 11.03 SCN2B SCN3B SCN4B SCN5A
10 11.02 GJA5 KCNA5 KCNE2 KCNJ2 KCNQ1 SCN2B
11 10.92 GATA4 NKX2-5 NPPA
12 10.8 KCNJ2 KCNQ1
13 10.28 GATA4 NKX2-5 NPPA

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 transcription factor complex GO:0005667 9.56 GATA5 GATA6 NKX2-5 PITX2
2 Z disc GO:0030018 9.5 KCNA5 SCN3B SCN5A
3 voltage-gated potassium channel complex GO:0008076 9.46 KCNA5 KCNE2 KCNJ2 KCNQ1
4 voltage-gated sodium channel complex GO:0001518 9.26 SCN2B SCN3B SCN4B SCN5A
5 intercalated disc GO:0014704 9.02 GJA5 KCNA5 KCNJ2 SCN4B SCN5A

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

(show top 50) (show all 55)
# Name GO ID Score Top Affiliating Genes
1 potassium ion transmembrane transport GO:0071805 9.96 KCNA5 KCNE2 KCNJ2 KCNQ1
2 sodium ion transport GO:0006814 9.96 SCN2B SCN3B SCN4B SCN5A
3 sodium ion transmembrane transport GO:0035725 9.94 SCN2B SCN3B SCN4B SCN5A
4 cardiac conduction GO:0061337 9.91 GJA5 KCNE2 KCNJ2 KCNQ1 SCN3B SCN5A
5 regulation of postsynaptic membrane potential GO:0060078 9.9 SCN2B SCN3B SCN4B SCN5A
6 male gonad development GO:0008584 9.88 GATA4 GATA6 PITX2
7 cardiac muscle cell differentiation GO:0055007 9.85 GATA4 GATA6 NKX2-5 PITX2
8 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.85 GJA5 KCNE2 KCNQ1 SCN4B SCN5A
9 ventricular septum morphogenesis GO:0060412 9.82 GJA5 NKX2-5 PITX2
10 cardiac muscle tissue development GO:0048738 9.82 GATA6 NKX2-5 PITX2
11 positive regulation of heart rate GO:0010460 9.81 KCNQ1 NPPA SCN3B
12 positive regulation of sodium ion transport GO:0010765 9.81 NKX2-5 SCN3B SCN4B SCN5A
13 regulation of sodium ion transmembrane transporter activity GO:2000649 9.8 SCN2B SCN3B SCN4B
14 atrial septum morphogenesis GO:0060413 9.8 GATA4 GJA5 NKX2-5
15 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.8 GJA5 SCN2B SCN3B SCN5A
16 regulation of cardiac muscle cell contraction GO:0086004 9.79 GATA4 KCNJ2 SCN5A
17 regulation of membrane repolarization GO:0060306 9.78 KCNE2 KCNJ2 KCNQ1
18 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.78 KCNA5 KCNQ1 NPPA SCN5A
19 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.77 GJA5 SCN3B SCN5A
20 ventricular cardiac muscle cell action potential GO:0086005 9.77 GJA5 KCNE2 KCNQ1 SCN3B SCN5A
21 potassium ion export GO:0071435 9.76 KCNA5 KCNE2 KCNQ1
22 intestinal epithelial cell differentiation GO:0060575 9.74 GATA4 GATA5 GATA6
23 SA node cell action potential GO:0086015 9.73 GJA5 SCN3B SCN5A
24 regulation of cardiac muscle contraction GO:0055117 9.72 GJA5 NKX2-5
25 embryonic heart tube development GO:0035050 9.72 GJA5 NKX2-5
26 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.72 KCNJ2 SCN2B SCN3B SCN4B SCN5A
27 response to vitamin A GO:0033189 9.71 GATA4 PITX2
28 cardiovascular system development GO:0072358 9.71 KCNQ1 NKX2-5
29 positive regulation of cardioblast differentiation GO:0051891 9.71 GATA4 GATA6 NKX2-5
30 cell growth involved in cardiac muscle cell development GO:0061049 9.7 GATA4 NPPA
31 cardiac muscle hypertrophy in response to stress GO:0014898 9.7 GATA6 NPPA
32 positive regulation of potassium ion transmembrane transport GO:1901381 9.7 KCNJ2 KCNQ1
33 positive regulation of cardiac muscle contraction GO:0060452 9.7 KCNQ1 NPPA
34 membrane repolarization during action potential GO:0086011 9.7 KCNE2 KCNJ2 KCNQ1
35 cardiac muscle contraction GO:0060048 9.7 KCNQ1 MYL4 NKX2-5 SCN2B SCN3B SCN4B
36 membrane repolarization GO:0086009 9.69 KCNE2 KCNQ1
37 ventricular cardiac muscle cell development GO:0055015 9.69 NKX2-5 PITX2
38 cardiac ventricle morphogenesis GO:0003208 9.69 GATA4 NKX2-5
39 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.68 KCNJ2 KCNQ1
40 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.68 KCNE2 KCNQ1
41 positive regulation of myoblast proliferation GO:2000288 9.68 KCNA5 PITX2
42 cardiac conduction system development GO:0003161 9.68 GJA5 NKX2-5
43 membrane repolarization during atrial cardiac muscle cell action potential GO:0098914 9.67 KCNA5 KCNQ1
44 AV node cell action potential GO:0086016 9.67 SCN4B SCN5A
45 AV node cell to bundle of His cell communication GO:0086067 9.65 GJA5 SCN5A
46 pulmonary myocardium development GO:0003350 9.65 NKX2-5 PITX2
47 atrial cardiac muscle cell action potential GO:0086014 9.65 KCNA5 KCNQ1 NUP155 SCN3B SCN5A
48 cardiac muscle cell action potential involved in contraction GO:0086002 9.43 KCNE2 KCNJ2 SCN2B SCN3B SCN4B SCN5A
49 regulation of heart rate by cardiac conduction GO:0086091 9.28 GJA5 KCNA5 KCNE2 KCNJ2 KCNQ1 SCN2B
50 transport GO:0006810 10.32 KCNA5 KCNE2 KCNJ2 KCNQ1 NUP155 SCN2B

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.99 GATA4 GATA5 GATA6 NKX2-5 PITX2
2 chromatin binding GO:0003682 9.92 GATA4 GATA5 GATA6 NKX2-5 PITX2
3 transcription factor binding GO:0008134 9.9 GATA4 GATA6 NKX2-5 PITX2
4 transcription regulatory region DNA binding GO:0044212 9.88 GATA4 GATA5 GATA6 NKX2-5
5 potassium channel activity GO:0005267 9.76 KCNA5 KCNE2 KCNQ1
6 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding GO:0001228 9.76 GATA4 GATA5 GATA6 NKX2-5
7 voltage-gated potassium channel activity GO:0005249 9.74 KCNA5 KCNE2 KCNQ1
8 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.73 GATA5 GATA6 NKX2-5
9 ion channel binding GO:0044325 9.72 KCNE2 KCNQ1 SCN3B SCN4B SCN5A
10 scaffold protein binding GO:0097110 9.69 KCNA5 KCNQ1 SCN5A
11 RNA polymerase II transcription factor binding GO:0001085 9.65 GATA4 GATA5 GATA6
12 inward rectifier potassium channel activity GO:0005242 9.61 KCNE2 KCNJ2
13 sodium channel regulator activity GO:0017080 9.58 SCN2B SCN3B SCN4B
14 sodium channel activity GO:0005272 9.56 SCN2B SCN3B SCN4B SCN5A
15 outward rectifier potassium channel activity GO:0015271 9.55 KCNA5 KCNQ1
16 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.54 KCNE2 KCNQ1
17 delayed rectifier potassium channel activity GO:0005251 9.54 KCNA5 KCNE2 KCNQ1
18 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.49 KCNJ2 KCNQ1
19 voltage-gated sodium channel activity GO:0005248 9.46 SCN2B SCN3B SCN4B SCN5A
20 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization GO:0086089 9.43 KCNA5 KCNQ1
21 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.26 SCN2B SCN3B SCN4B SCN5A
22 voltage-gated ion channel activity GO:0005244 9.23 KCNA5 KCNE2 KCNJ2 KCNQ1 SCN2B SCN3B

Sources for Familial Atrial Fibrillation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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