MCID: FML001
MIFTS: 58

Familial Atrial Fibrillation malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Familial Atrial Fibrillation

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 48Orphanet, 22GTR, 61UMLS, 26ICD10 via Orphanet
See all sources

Aliases & Descriptions for Familial Atrial Fibrillation:

Name: Familial Atrial Fibrillation 8 42 21 10 48 61
Atrial Fibrillation, Familial 44 22
Atrial Fibrillation Familial 42 20
Atrial Fibrillation Autosomal Dominant 42
Autosomal Dominant Atrial Fibrillation 42
 
Atrial Fibrillation, Familial, 1 61
Auricular Fibrillation 21
Atrial Fibrillation 61
Atfb 8


Classifications:



Characteristics (Orphanet epidemiological data):

48
familial atrial fibrillation:
Inheritance: Autosomal dominant


External Ids:

Disease Ontology8 DOID:0050650
Orphanet48 334
ICD10 via Orphanet26 I48.9

Summaries for Familial Atrial Fibrillation

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Genetics Home Reference:21 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.

MalaCards based summary: Familial Atrial Fibrillation, also known as atrial fibrillation, familial, is related to atrial fibrillation and long qt syndrome. An important gene associated with Familial Atrial Fibrillation is KCNQ1 (potassium voltage-gated channel, KQT-like subfamily, member 1), and among its related pathways are Salivary secretion and CFTR dependent regulation of ion channels in Airway Epithelium norm and CF . The drugs atenolol and deslanoside and the compounds clofilium and chromanol have been mentioned in the context of this disorder. Affiliated tissues include heart, and related mouse phenotypes are digestive/alimentary and embryogenesis.

Disease Ontology:8 An atrial fibrillation that has material basis in autosomal dominant inheritance of the familial atrial fibrillation (atfb) genes.

Wikipedia:64 Familial atrial fibrillation is an autosomal dominant heart condition that causes disruptions in the... more...

Related Diseases for Familial Atrial Fibrillation

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Diseases in the Atrial Fibrillation family:

Atrial Fibrillation, Familial, 6 Atrial Fibrillation, Familial, 11
Atrial Fibrillation, Familial, 10 Atrial Fibrillation, Familial, 5
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, 9
Atrial Fibrillation, Familial, 13 Atrial Fibrillation, Familial, 4
Atrial Fibrillation 15 familial atrial fibrillation
Kcne2-Related Familial Atrial Fibrillation Kcnq1-Related Familial Atrial Fibrillation
Kcna5-Related Familial Atrial Fibrillation Kcnj2-Related Familial Atrial Fibrillation
Abcc9-Related Familial Atrial Fibrillation Gja5-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 58)
idRelated DiseaseScoreTop Affiliating Genes
1atrial fibrillation31.4KCNA5, KCNE1, KCNQ1, KCNJ2, SCN5A, GJA5
2long qt syndrome30.3KCNA5, KCNE2, KCNQ1, KCNJ2, KCNE1, SCN5A
3atrial fibrillation, familial, 610.5
4atrial fibrillation, familial, 1010.5
5atrial fibrillation, familial, 310.5
6atrial fibrillation, familial, 710.5
7atrial fibrillation, familial, 910.5
8atrial fibrillation, familial, 410.5
9short qt syndrome 210.5KCNQ1
10atrial fibrillation, familial, 510.5
11atrial fibrillation, familial, 210.5
12atrial fibrillation, familial, 810.5
13tetralogy of fallot10.5NKX2-5
14brugada syndrome 110.4SCN5A
15jervell and lange-nielsen syndrome10.4KCNQ1, KCNE1
16atrial stand still10.4GJA5, SCN5A
17kcne2-related familial atrial fibrillation10.4
18kcnq1-related familial atrial fibrillation10.4
19kcna5-related familial atrial fibrillation10.4
20kcnj2-related familial atrial fibrillation10.4
21abcc9-related familial atrial fibrillation10.4
22gja5-related familial atrial fibrillation10.4
23heart block, progressive, type ia10.4GJA5, SCN5A
24hypokalemic periodic paralysis, type 110.4KCNJ2
25atrioventricular septal defect10.3NKX2-5, GATA4
26ventricular septal defect10.3NKX2-5
27heart septal defect10.3GATA4, NKX2-5
28endodermal sinus tumor10.3GATA4, GATA6
29timothy syndrome10.3KCNE1, SCN4B
30conotruncal heart malformations10.3NKX2-6, GATA6
31atrial heart septal defect10.3NKX2-5, GATA4
32sick sinus syndrome10.3SCN5A, NPPA
33sudden infant death syndrome10.3SCN5A, KCNQ1
34long qt syndrome 110.3KCNE1, KCNE2, KCNQ1, SCN5A
35sudden cardiac death multi-gene panels10.3KCNJ2, SCN5A, KCNE1, KCNQ1
36atrioventricular block10.2SCN5A, GATA4, NKX2-5
37velocardiofacial syndrome10.2NKX2-6
38congenital heart block10.2KCNE2, SCN5A, KCNQ1, SCN4B
39congenital heart disease10.2NKX2-5, GATA4, NPPA
40atrial fibrillation, familial, 1110.2
41wolff-parkinson-white syndrome10.2
42atrial fibrillation, familial, 110.2
43atrial fibrillation, familial, 1410.2
44brugada syndrome 710.2
45atrial fibrillation, familial, 1210.2
46atrial fibrillation, familial, 1310.2
47atrial fibrillation 1510.2
48long qt syndrome-1010.2
49sensorineural hearing loss10.2KCNE1, KCNQ1
50dextrocardia10.1

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



Diseases related to familial atrial fibrillation

Symptoms for Familial Atrial Fibrillation

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Drugs & Therapeutics for Familial Atrial Fibrillation

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Genetic Tests for Familial Atrial Fibrillation

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Genetic tests related to Familial Atrial Fibrillation:

id Genetic test Affiliating Genes
1 Familial Atrial Fibrillation20 KCNQ1
2 Atrial Fibrillation Familial22

Anatomical Context for Familial Atrial Fibrillation

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MalaCards organs/tissues related to Familial Atrial Fibrillation:

31
Heart

Animal Models for Familial Atrial Fibrillation or affiliated genes

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Publications for Familial Atrial Fibrillation

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Articles related to Familial Atrial Fibrillation:

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

Variations for Familial Atrial Fibrillation

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Clinvar genetic disease variations for Familial Atrial Fibrillation:

5
id Gene Variation Type Significance SNP ID Assembly Location
1KCNQ1NM_000218.2(KCNQ1): c.418A> G (p.Ser140Gly)single nucleotide variantPathogenicrs120074192GRCh37Chr 11, 2549189: 2549189
2KCNE2NM_172201.1(KCNE2): c.79C> T (p.Arg27Cys)single nucleotide variantPathogenicrs74315449GRCh37Chr 21, 35742856: 35742856
3KCNQ1NM_000218.2(KCNQ1): c.625T> C (p.Ser209Pro)single nucleotide variantPathogenicrs199472705GRCh37Chr 11, 2592575: 2592575

Expression for genes affiliated with Familial Atrial Fibrillation

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

Pathways for genes affiliated with Familial Atrial Fibrillation

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

(show all 20)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.9KCNJ2, KCNQ1, KCNE2
29.9ABCC9, KCNQ1
3
Show member pathways
9.8ABCC9, KCNJ2
49.8GATA5, GATA6, GATA4
5
Show member pathways
9.8GATA6, GATA5, GATA4
69.7GATA4, NPPA, NKX2-5
79.7NKX2-5, GATA4, NPPA
8
Show member pathways
9.7GATA4, NKX2-5, NPPA
99.7GATA4, SCN5A, NKX2-5
109.6SCN4B, KCNE1, SCN5A, KCNQ1
119.6SCN3B, SCN5A, SCN2B
129.5KCNQ1, SCN5A, SCN3B, SCN4B
139.5KCNJ2, KCNA5, KCNE2, KCNQ1, KCNE1
14
Show member pathways
9.5GATA4, GATA5, GATA6, NKX2-5
15
Show member pathways
9.4KCNQ1, KCNJ2, ABCC9, KCNA5
16
Show member pathways
9.4SCN5A, SCN3B, SCN2B, SCN4B
17
Show member pathways
9.4SCN3B, SCN4B, SCN5A, SCN2B
189.3GATA4, GATA6, NKX2-5, PITX2
19
Show member pathways
9.2KCNQ1, KCNE1, KCNA5, ABCC9, KCNJ2
207.2SCN5A, ABCC9, GJA5, SCN3B, SCN2B, SCN4B

Compounds for genes affiliated with Familial Atrial Fibrillation

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

(show all 29)
idCompoundScoreTop Affiliating Genes
1clofilium44 2811.4KCNQ1, KCNA5
2chromanol4410.4KCNQ1, KCNE1
3indapamide44 1111.3KCNE1, KCNQ1
4chromanol 293b60 44 2812.3KCNQ1, KCNE1
5flecainide50 44 28 1113.2SCN5A, KCNA5
6propafenone28 44 50 1113.2SCN5A, KCNA5
7nicorandil44 2811.1NPPA, ABCC9
8jnj 3036010.0KCNE2, KCNE1, KCNA5, KCNQ1
9shk-dap226010.0KCNQ1, KCNE2, KCNA5, KCNE1
10e-4031 dihydrochloride6010.0KCNE2, KCNQ1, KCNE1, KCNA5
11xe 991 dihydrochloride6010.0KCNQ1, KCNE2, KCNE1, KCNA5
12ica 1103816010.0KCNE1, KCNE2, KCNQ1, KCNA5
13cromakalim44 2811.0ABCC9, KCNQ1
14isoproterenol44 1110.9KCNQ1, NPPA, KCNJ2
15glibenclamide44 28 50 6012.9ABCC9, KCNQ1, KCNJ2
16katp449.9KCNQ1, ABCC9
17phrixotoxin 3609.7SCN5A, SCN2B, SCN4B, SCN3B
18tetrodotoxin citrate609.7SCN3B, SCN5A, SCN2B, SCN4B
19qx 314 chloride609.7SCN5A, SCN2B, SCN4B, SCN3B
20veratridine44 60 2811.7SCN4B, SCN5A, SCN2B, SCN3B
21zonisamide44 50 1111.7SCN5A, SCN2B, SCN4B, SCN3B
22tetrodotoxin44 60 2811.7SCN2B, SCN4B, SCN5A, SCN3B
235-aza-2deoxycytidine449.7GATA5, GATA6, GATA4
24nitric oxide44 24 1111.4KCNE1, NKX2-5, GJA5, GATA4, NPPA
25arginine449.3SCN5A, NPPA, KCNQ1, KCNE1, KCNJ2, PITX2
26calcium44 50 24 1111.8GATA4, NPPA, KCNQ1, PITX2, KCNA5, KCNJ2
27sodium44 249.8KCNE1, NPPA, GJA5, SCN3B, SCN5A, SCN2B
28potassium44 24 1110.6NPPA, KCNQ1, ABCC9, KCNE2, KCNE1, KCNJ2
29serine448.6NKX2-5, GATA4, KCNQ1, KCNE1, PITX2, SCN5A

GO Terms for genes affiliated with Familial Atrial Fibrillation

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

idNameGO IDScoreTop Affiliating Genes
1T-tubuleGO:003031510.0SCN5A, KCNJ2
2lysosomeGO:00057649.8KCNE1, KCNE2, KCNQ1
3Z discGO:00300189.7SCN3B, KCNE1, KCNA5
4sarcolemmaGO:00423839.7ABCC9, KCNQ1, SCN5A
5intercalated discGO:00147049.6KCNA5, KCNJ2, SCN4B, SCN5A, GJA5
6voltage-gated sodium channel complexGO:00015189.5SCN3B, SCN5A, SCN2B, SCN4B
7voltage-gated potassium channel complexGO:00080768.7KCNE1L, KCNQ1, KCNE2, KCNE1, KCNJ2, KCNA5
8plasma membraneGO:00058868.2ABCC9, KCNA5, KCNJ2, KCNE1, KCNE2, KCNQ1

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

(show top 50)    (show all 56)
idNameGO IDScoreTop Affiliating Genes
1regulation of delayed rectifier potassium channel activityGO:0190225910.4KCNE2, KCNE1
2membrane repolarizationGO:008600910.4KCNE2, KCNE1
3AV node cell to bundle of His cell communicationGO:008606710.3SCN4B, SCN5A
4cardiac conduction system developmentGO:000316110.3GJA5, NKX2-5
5bundle of His cell to Purkinje myocyte communicationGO:008606910.2SCN5A, GJA5
6SA node cell to atrial cardiac muscle cell communicationGO:008607010.2SCN5A, SCN3B
7atrial cardiac muscle cell developmentGO:005501410.2NKX2-6, NKX2-5
8membrane depolarization during action potentialGO:008601010.2SCN3B, SCN5A
9cardiac muscle hypertrophy in response to stressGO:001489810.2GATA4, NPPA, GATA6
10intestinal epithelial cell differentiationGO:006057510.2GATA6, GATA5, GATA4
11tongue developmentGO:004358610.2KCNE2, NKX2-6
12regulation of cardiac muscle cell contractionGO:008600410.1SCN5A, GATA4
13atrial septum morphogenesisGO:006041310.1GATA4, GJA5, NKX2-5
14membrane repolarization during action potentialGO:008601110.1KCNE2, KCNE1, KCNJ2, KCNQ1
15regulation of ventricular cardiac muscle cell membrane depolarizationGO:006037310.1SCN3B, GJA5, SCN5A
16positive regulation of cardioblast differentiationGO:005189110.1GATA6, NKX2-5, GATA4
17pulmonary myocardium developmentGO:000335010.1PITX2, NKX2-5
18positive regulation of myoblast proliferationGO:0200028810.1KCNA5, PITX2
19outflow tract septum morphogenesisGO:000314810.1NKX2-5, GATA6
20embryonic heart tube developmentGO:003505010.1NKX2-5, NKX2-6, GJA5
21potassium ion importGO:001010710.0KCNE2, ABCC9, KCNJ2
22regulation of cardiac muscle contractionGO:005511710.0NKX2-5, GJA5
23regulation of sodium ion transmembrane transporter activityGO:0200064910.0SCN2B, SCN4B, SCN3B
24cardiac muscle cell differentiationGO:005500710.0GATA6, NKX2-5
25ventricular septum morphogenesisGO:00604129.9PITX2, GJA5, NKX2-5
26sodium ion transportGO:00068149.9SCN4B, SCN5A, SCN3B
27regulation of potassium ion transmembrane transportGO:019013799.9KCNE1L, KCNE2, KCNE1
28ventricular cardiac muscle cell developmentGO:00550159.9PITX2, NKX2-5, NKX2-6
29positive regulation of sodium ion transportGO:00107659.8NKX2-5, SCN3B, SCN5A, SCN4B
30regulation of membrane repolarizationGO:00603069.8KCNE2, KCNQ1, KCNE1L, KCNJ2
31regulation of atrial cardiac muscle cell membrane depolarizationGO:00603719.8SCN2B, SCN5A, GJA5, SCN3B
32pharyngeal system developmentGO:00600379.8NKX2-6, NKX2-5
33potassium ion transportGO:00068139.8GJA5, KCNA5, KCNJ2, ABCC9
34regulation of atrial cardiac muscle cell membrane repolarizationGO:00603729.8KCNQ1, KCNA5, KCNE1L, SCN5A
35membrane repolarization during cardiac muscle cell action potentialGO:00860139.8KCNQ1, KCNE1, KCNJ2, KCNE1L
36positive regulation of potassium ion transmembrane transportGO:019013819.8KCNJ2, KCNE1, KCNQ1, KCNE1L
37ventricular septum developmentGO:00032819.7GJA5, GATA4
38sodium ion transmembrane transportGO:00357259.7SCN3B, SCN5A, SCN4B, SCN2B
39potassium ion exportGO:00714359.6KCNQ1, KCNE1L, KCNE2, KCNE1, KCNA5
40membrane depolarization during cardiac muscle cell action potentialGO:00860129.6SCN4B, KCNJ2, SCN3B, SCN5A, SCN2B
41potassium ion transmembrane transportGO:00718059.6KCNE1L, KCNQ1, KCNE2, KCNJ2, KCNE1
42male gonad developmentGO:00085849.6GATA6, GATA4, KCNQ1, KCNE1, PITX2
43synaptic transmissionGO:00072689.4SCN2B, KCNQ1, KCNJ2, KCNA5, ABCC9
44regulation of ventricular cardiac muscle cell membrane repolarizationGO:00603079.2KCNE1, KCNE2, KCNQ1, GJA5, SCN5A, SCN4B
45cardiac muscle cell action potential involved in contractionGO:00860029.2SCN3B, SCN2B, SCN4B, KCNE2, KCNE1, KCNJ2
46atrial cardiac muscle cell action potentialGO:00860149.2KCNA5, KCNQ1, KCNE1L, NUP155, GJA5, SCN3B
47positive regulation of transcription from RNA polymerase II promoterGO:00459449.1NKX2-5, PITX2, GATA5, GATA4, GATA6
48ventricular cardiac muscle cell action potentialGO:00860059.1GJA5, SCN3B, SCN5A, KCNE1L, KCNQ1, KCNE2
49cardiac muscle contractionGO:00600488.8NKX2-5, SCN3B, SCN5A, SCN2B, SCN4B, KCNE1L
50regulation of heart rate by cardiac conductionGO:00860918.1GJA5, SCN3B, SCN2B, SCN4B, KCNE1L, KCNQ1

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarizationGO:008608910.3KCNA5, KCNQ1
2voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarizationGO:0190228210.2KCNQ1, KCNE2, KCNE1
3outward rectifier potassium channel activityGO:001527110.1KCNQ1, KCNA5
4inward rectifier potassium channel activityGO:000524210.1KCNJ2, KCNE2
5scaffold protein bindingGO:009711010.1SCN5A, KCNQ1, KCNA5
6delayed rectifier potassium channel activityGO:000525110.0KCNE2, KCNE1, KCNA5, KCNQ1
7voltage-gated sodium channel activityGO:00052489.9SCN4B, SCN5A, SCN3B
8sodium channel regulator activityGO:00170809.8SCN3B, SCN2B, SCN4B
9RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:00037059.7GATA6, GATA5, NKX2-5, GATA4
10voltage-gated potassium channel activityGO:00052499.7KCNE1, KCNQ1, KCNE1L
11enhancer sequence-specific DNA bindingGO:00011589.7GATA5, GATA4
12voltage-gated sodium channel activity involved in cardiac muscle cell action potentialGO:00860069.7SCN4B, SCN5A, SCN3B, SCN2B
13voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarizationGO:00860089.6KCNE1L, KCNE1, KCNQ1, KCNJ2
14transcription regulatory region DNA bindingGO:00442129.6NKX2-5, GATA5, GATA4, GATA6
15potassium channel regulator activityGO:00154599.4ABCC9, KCNE2, KCNE1, KCNE1L
16transcription factor bindingGO:00081349.2NKX2-5, PITX2, GATA6, GATA4
17sequence-specific DNA binding transcription factor activityGO:00037008.8GATA6, GATA4, GATA5, PITX2, NKX2-6, NKX2-5
18ion channel bindingGO:00443258.7ABCC9, KCNE2, SCN5A, SCN3B, KCNE1L, SCN4B

Sources for Familial Atrial Fibrillation

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet