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MCID: FML001
MIFTS: 54

Familial Atrial Fibrillation

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

Aliases & Classifications for Familial Atrial Fibrillation

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MalaCards integrated aliases for Familial Atrial Fibrillation:

Name: Familial Atrial Fibrillation 12 53 25 59 29 6 15 73
Atrial Fibrillation, Familial 53 25 55
Atfb 12 53
Atrial Fibrillation Autosomal Dominant 53
Autosomal Dominant Atrial Fibrillation 53
Atrial Fibrillation, Familial, 1 73
Auricular Fibrillation 25
Atrial Fibrillation 73

Characteristics:

Orphanet epidemiological data:

59
familial atrial fibrillation
Inheritance: Autosomal dominant;

Classifications:

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


External Ids:

Disease Ontology 12 DOID:0050650
Orphanet 59 ORPHA334
ICD10 via Orphanet 34 I48.9
Sources

Summaries for Familial Atrial Fibrillation

About this section
NIH Rare Diseases : 53 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.

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 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 BMP Pathway. Affiliated tissues include heart, and related phenotypes are cardiovascular system and homeostasis/metabolism

Genetics Home Reference : 25 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.

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

Wikipedia : 76 Familial atrial fibrillation is an autosomal dominant heart condition that causes disruptions in the... more...

Sources

Related Diseases for Familial Atrial Fibrillation

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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 56)
# Related Disease Score Top Affiliating Genes
1 long qt syndrome 30.8 KCNA5 KCNE2 KCNJ2 KCNQ1 SCN4B SCN5A
2 atrial fibrillation 28.3 ATFB1 ATFB2 ATFB5 GATA5 GATA6 GJA5
3 atrial fibrillation, familial, 3 12.5
4 atrial fibrillation, familial, 4 12.5
5 atrial fibrillation, familial, 6 12.5
6 atrial fibrillation, familial, 7 12.5
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 11.0 KCNE2 KCNQ1 SCN5A
13 short qt syndrome 11.0 KCNE2 KCNJ2 KCNQ1
14 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 11.0 KCNJ2 KCNQ1 SCN5A
15 familial short qt syndrome 11.0 KCNJ2 KCNQ1
16 long qt syndrome 3 11.0 KCNE2 KCNQ1 SCN5A
17 long qt syndrome 5 10.9 KCNE2 KCNJ2 KCNQ1 SCN5A
18 partial atrioventricular canal 10.9 GATA4 GATA6
19 long qt syndrome 6 10.9 KCNE2 KCNJ2 KCNQ1 SCN5A
20 complete atrioventricular canal-ventricle hypoplasia syndrome 10.9 GATA4 GATA6
21 atrial standstill 10.9 GJA5 NPPA SCN5A
22 cardiac arrhythmia 10.9 KCNE2 KCNJ2 KCNQ1 SCN5A
23 familial progressive cardiac conduction defect 10.9 NKX2-5 SCN5A
24 progressive familial heart block, type ia 10.9 GJA5 SCN5A
25 andersen cardiodysrhythmic periodic paralysis 10.9 KCNE2 KCNJ2 KCNQ1 SCN5A
26 long qt syndrome 2 10.9 KCNE2 KCNJ2 KCNQ1 SCN5A
27 intrinsic cardiomyopathy 10.9 KCNE2 KCNJ2 KCNQ1 SCN5A
28 syncope 10.9 KCNJ2 KCNQ1 NPPA SCN5A
29 first-degree atrioventricular block 10.9 GJA5 SCN5A
30 heart conduction disease 10.8 GJA5 KCNA5 KCNJ2 KCNQ1 SCN5A
31 long qt syndrome 13 10.8 KCNQ1 SCN5A
32 familial bicuspid aortic valve 10.8 GATA5 NKX2-5
33 ventricular fibrillation, paroxysmal familial, 1 10.8 KCNE2 KCNQ1 NKX2-5 SCN5A
34 jervell and lange-nielsen syndrome 1 10.8 KCNE2 KCNQ1 SCN4B SCN5A
35 brugada syndrome 1 10.8 KCNA5 SCN5A
36 atrial septal defect 4 10.7 GATA4 GATA6 NKX2-5
37 long qt syndrome 1 10.7 KCNE2 KCNJ2 KCNQ1 SCN4B SCN5A
38 heart septal defect 10.7 GATA4 GATA6 NKX2-5
39 hypoplastic left heart syndrome 10.7 GATA5 NKX2-5 NPPA
40 atrioventricular septal defect 10.7 GATA4 GATA6 NKX2-5
41 atrial heart septal defect 10.7 GATA4 GATA6 NKX2-5
42 progressive familial heart block 10.7 GJA5 SCN5A
43 pulmonary valve stenosis 10.6 GATA4 SCN5A
44 double outlet right ventricle 10.6 GATA4 GATA6 NKX2-5
45 atrioventricular block 10.6 GATA4 KCNE2 KCNQ1 NKX2-5 SCN5A
46 right bundle branch block 10.6 SCN2B SCN3B SCN5A
47 ventricular septal defect 10.6 GATA4 GATA5 GATA6 NKX2-5
48 pulmonary valve disease 10.4 GATA4 GATA6
49 sudden infant death syndrome 10.3 KCNQ1 SCN2B SCN3B SCN4B SCN5A
50 long qt syndrome 9 10.3 KCNJ2 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
Sources

Symptoms & Phenotypes for Familial Atrial Fibrillation

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UMLS symptoms related to Familial Atrial Fibrillation:


angina pectoris, chest pain, edema

MGI Mouse Phenotypes related to Familial Atrial Fibrillation:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.07 GATA4 GATA5 GATA6 GJA5 KCNA5 KCNJ2
2 homeostasis/metabolism MP:0005376 9.77 GATA4 GATA5 GATA6 GJA5 KCNA5 KCNE2
3 digestive/alimentary MP:0005381 9.76 KCNQ1 NKX2-5 PITX2 GATA4 GATA5 GJA5
4 muscle MP:0005369 9.36 GATA5 GATA6 GJA5 KCNA5 KCNJ2 KCNQ1
Sources

Drugs & Therapeutics for Familial Atrial Fibrillation

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Search Clinical Trials , NIH Clinical Center for Familial Atrial Fibrillation

Inferred drug relations via UMLS 73 / NDF-RT 51 :
Sources

Genetic Tests for Familial Atrial Fibrillation

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Genetic tests related to Familial Atrial Fibrillation:

# Genetic test Affiliating Genes
1 Familial Atrial Fibrillation 29
Sources

Anatomical Context for Familial Atrial Fibrillation

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MalaCards organs/tissues related to Familial Atrial Fibrillation:

41
Heart
Sources

Publications for Familial Atrial Fibrillation

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Articles related to Familial Atrial Fibrillation:

(show all 45)
# Title Authors Year
1
Generation and cardiac subtype-specific differentiation of PITX2-deficient human iPS cell lines for exploring familial atrial fibrillation. ( 28677534 )
2017
2
Familial clustering of atrial fibrillation and comparative longitudinal outcomes of familial and non-familial atrial fibrillation. ( 28485191 )
2017
3
A frameshift deletion in the sarcomere gene MYL4 causes early-onset familial atrial fibrillation. ( 27742809 )
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
NKX2-6 mutation predisposes to familial atrial fibrillation. ( 25319568 )
2014
7
A novel PITX2c loss-of-function mutation associated with familial atrial fibrillation. ( 24333117 )
2014
8
Whole-exome sequencing in familial atrial fibrillation. ( 24727801 )
2014
9
Mutations of the SCN4B-encoded sodium channel I^4 subunit in familial atrial fibrillation. ( 23604097 )
2013
10
Familial atrial fibrillation predicts increased risk of mortality: a study in Danish twins. ( 23255276 )
2013
11
Prevalence and spectrum of PITX2c mutations associated with familial atrial fibrillation. ( 23611745 )
2013
12
Characteristics of atrial fibrillation and comorbidities in familial atrial fibrillation. ( 23551519 )
2013
13
A novel NKX2.5 loss-of-function mutation responsible for familial atrial fibrillation. ( 23525379 )
2013
14
A KCNQ1 mutation causes a high penetrance for familial atrial fibrillation. ( 23350853 )
2013
15
In silico investigation of a KCNQ1 mutation associated with familial atrial fibrillation. ( 24411289 )
2013
16
Chromosome 4q25 variants are genetic modifiers of rare ion channel mutations associated with familial atrial fibrillation. ( 22818067 )
2012
17
Mutational spectrum of the GATA5 gene associated with familial atrial fibrillation. of Shanghai Jiaotong University, Shanghai 200030, China. ( 22483626 )
2012
18
Mutations in the potassium channel subunit KCNE1 are associated with early-onset familial atrial fibrillation. ( 22471742 )
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
Novel GATA5 loss-of-function mutations underlie familial atrial fibrillation. ( 23295592 )
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
Association between familial atrial fibrillation and risk of new-onset atrial fibrillation. ( 21076174 )
2010
25
Connexin40 nonsense mutation in familial atrial fibrillation. ( 20818502 )
2010
26
Augmented potassium current is a shared phenotype for two genetic defects associated with familial atrial fibrillation. ( 19646991 )
2010
27
Laminopathy presenting as familial atrial fibrillation. ( 20472316 )
2010
28
Novel connexin40 missense mutations in patients with familial atrial fibrillation. ( 20650941 )
2010
29
Genetics of familial atrial fibrillation. ( 19666641 )
2009
30
Atrial natriuretic peptide frameshift mutation in familial atrial fibrillation. ( 18614783 )
2008
31
A novel SCN5A gain-of-function mutation M1875T associated with familial atrial fibrillation. ( 18929244 )
2008
32
A mutation in the sodium channel is responsible for the association of long QT syndrome and familial atrial fibrillation. ( 18929331 )
2008
33
Prolonged signal-averaged P-wave duration as an intermediate phenotype for familial atrial fibrillation. ( 18342226 )
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
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
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
Sources

Variations for Familial Atrial Fibrillation

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ClinVar genetic disease variations for Familial Atrial Fibrillation:

6
(show top 50) (show all 450)
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCC9 NM_005691.3(ABCC9): c.2770-13A> G single nucleotide variant Conflicting interpretations of pathogenicity rs184123387 GRCh37 Chromosome 12, 22001193: 22001193
2 ABCC9 NM_005691.3(ABCC9): c.2770-13A> G single nucleotide variant Conflicting interpretations of pathogenicity rs184123387 GRCh38 Chromosome 12, 21848259: 21848259
3 ABCC9 NM_020297.3(ABCC9): c.2199-6T> C single nucleotide variant Conflicting interpretations of pathogenicity rs535477725 GRCh37 Chromosome 12, 22017417: 22017417
4 ABCC9 NM_020297.3(ABCC9): c.2199-6T> C single nucleotide variant Conflicting interpretations of pathogenicity rs535477725 GRCh38 Chromosome 12, 21864483: 21864483
5 KCNQ1 NM_000218.2(KCNQ1): c.435C> T (p.Ile145=) single nucleotide variant Benign/Likely benign rs1800170 GRCh37 Chromosome 11, 2549206: 2549206
6 KCNQ1 NM_000218.2(KCNQ1): c.435C> T (p.Ile145=) single nucleotide variant Benign/Likely benign rs1800170 GRCh38 Chromosome 11, 2527976: 2527976
7 KCNQ1 NM_000218.2(KCNQ1): c.513C> T (p.Tyr171=) single nucleotide variant Benign/Likely benign rs139042529 GRCh37 Chromosome 11, 2591893: 2591893
8 KCNQ1 NM_000218.2(KCNQ1): c.513C> T (p.Tyr171=) single nucleotide variant Benign/Likely benign rs139042529 GRCh38 Chromosome 11, 2570663: 2570663
9 KCNQ1 NM_000218.2(KCNQ1): c.477+9C> T single nucleotide variant Benign/Likely benign rs28730664 GRCh37 Chromosome 11, 2549257: 2549257
10 KCNQ1 NM_000218.2(KCNQ1): c.477+9C> T single nucleotide variant Benign/Likely benign rs28730664 GRCh38 Chromosome 11, 2528027: 2528027
11 KCNJ2 NM_000891.2(KCNJ2): c.1229A> G (p.Asn410Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141069645 GRCh37 Chromosome 17, 68172409: 68172409
12 KCNJ2 NM_000891.2(KCNJ2): c.1229A> G (p.Asn410Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141069645 GRCh38 Chromosome 17, 70176268: 70176268
13 KCNE2 NM_172201.1(KCNE2): c.-13+5G> A single nucleotide variant Uncertain significance rs786205806 GRCh37 Chromosome 21, 35736455: 35736455
14 KCNE2 NM_172201.1(KCNE2): c.-13+5G> A single nucleotide variant Uncertain significance rs786205806 GRCh38 Chromosome 21, 34364156: 34364156
15 KCNA5 NM_002234.3(KCNA5): c.251A> C (p.Glu84Ala) single nucleotide variant Uncertain significance rs377036305 GRCh38 Chromosome 12, 5044398: 5044398
16 KCNA5 NM_002234.3(KCNA5): c.251A> C (p.Glu84Ala) single nucleotide variant Uncertain significance rs377036305 GRCh37 Chromosome 12, 5153564: 5153564
17 KCNA5 NM_002234.3(KCNA5): c.751G> A (p.Ala251Thr) single nucleotide variant Benign/Likely benign rs12720442 GRCh38 Chromosome 12, 5044898: 5044898
18 KCNA5 NM_002234.3(KCNA5): c.751G> A (p.Ala251Thr) single nucleotide variant Benign/Likely benign rs12720442 GRCh37 Chromosome 12, 5154064: 5154064
19 KCNA5 NM_002234.3(KCNA5): c.898G> A (p.Gly300Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs148708451 GRCh37 Chromosome 12, 5154211: 5154211
20 KCNA5 NM_002234.3(KCNA5): c.898G> A (p.Gly300Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs148708451 GRCh38 Chromosome 12, 5045045: 5045045
21 KCNA5 NM_002234.3(KCNA5): c.1150G> A (p.Gly384Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs76708779 GRCh38 Chromosome 12, 5045297: 5045297
22 KCNA5 NM_002234.3(KCNA5): c.1150G> A (p.Gly384Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs76708779 GRCh37 Chromosome 12, 5154463: 5154463
23 KCNQ1 NM_000218.2(KCNQ1): c.1110G> A (p.Ala370=) single nucleotide variant Benign/Likely benign rs1805118 GRCh38 Chromosome 11, 2585289: 2585289
24 KCNQ1 NM_000218.2(KCNQ1): c.1110G> A (p.Ala370=) single nucleotide variant Benign/Likely benign rs1805118 GRCh37 Chromosome 11, 2606519: 2606519
25 ABCC9 NM_020297.3(ABCC9): c.2826T> C (p.Tyr942=) single nucleotide variant Conflicting interpretations of pathogenicity rs141025897 GRCh38 Chromosome 12, 21848190: 21848190
26 ABCC9 NM_020297.3(ABCC9): c.2826T> C (p.Tyr942=) single nucleotide variant Conflicting interpretations of pathogenicity rs141025897 GRCh37 Chromosome 12, 22001124: 22001124
27 MYL4 NM_001002841.1(MYL4): c.31G> A (p.Glu11Lys) single nucleotide variant Pathogenic rs886037778 GRCh37 Chromosome 17, 45286819: 45286819
28 MYL4 NM_001002841.1(MYL4): c.31G> A (p.Glu11Lys) single nucleotide variant Pathogenic rs886037778 GRCh38 Chromosome 17, 47209453: 47209453
29 KCNQ1 NM_000218.2(KCNQ1): c.1875C> T (p.Pro625=) single nucleotide variant Conflicting interpretations of pathogenicity rs112113213 GRCh38 Chromosome 11, 2847847: 2847847
30 KCNQ1 NM_000218.2(KCNQ1): c.1875C> T (p.Pro625=) single nucleotide variant Conflicting interpretations of pathogenicity rs112113213 GRCh37 Chromosome 11, 2869077: 2869077
31 KCNA5 NM_002234.3(KCNA5): c.1149T> C (p.Gly383=) single nucleotide variant Benign/Likely benign rs2359641 GRCh38 Chromosome 12, 5045296: 5045296
32 KCNA5 NM_002234.3(KCNA5): c.1149T> C (p.Gly383=) single nucleotide variant Benign/Likely benign rs2359641 GRCh37 Chromosome 12, 5154462: 5154462
33 KCNJ2 NM_000891.2(KCNJ2): c.1259C> T (p.Pro420Leu) single nucleotide variant Uncertain significance rs749707062 GRCh38 Chromosome 17, 70176298: 70176298
34 KCNJ2 NM_000891.2(KCNJ2): c.1259C> T (p.Pro420Leu) single nucleotide variant Uncertain significance rs749707062 GRCh37 Chromosome 17, 68172439: 68172439
35 GJA5 NM_005266.6(GJA5): c.*1211A> G single nucleotide variant Uncertain significance rs886045244 GRCh38 Chromosome 1, 147756951: 147756951
36 GJA5 NM_005266.6(GJA5): c.*1211A> G single nucleotide variant Uncertain significance rs886045244 GRCh37 Chromosome 1, 147229084: 147229084
37 GJA5 NM_005266.6(GJA5): c.*608C> T single nucleotide variant Likely benign rs36005900 GRCh38 Chromosome 1, 147757554: 147757554
38 GJA5 NM_005266.6(GJA5): c.*608C> T single nucleotide variant Likely benign rs36005900 GRCh37 Chromosome 1, 147229662: 147229662
39 GJA5 NM_005266.6(GJA5): c.*520A> T single nucleotide variant Uncertain significance rs886045246 GRCh38 Chromosome 1, 147757642: 147757642
40 GJA5 NM_005266.6(GJA5): c.*520A> T single nucleotide variant Uncertain significance rs886045246 GRCh37 Chromosome 1, 147229750: 147229750
41 GJA5 NM_005266.6(GJA5): c.1068A> G (p.Leu356=) single nucleotide variant Uncertain significance rs886045250 GRCh37 Chromosome 1, 147230279: 147230279
42 GJA5 NM_005266.6(GJA5): c.1068A> G (p.Leu356=) single nucleotide variant Uncertain significance rs886045250 GRCh38 Chromosome 1, 147758171: 147758171
43 GJA5 NM_005266.6(GJA5): c.995G> A (p.Arg332His) single nucleotide variant Uncertain significance rs116551187 GRCh37 Chromosome 1, 147230352: 147230352
44 GJA5 NM_005266.6(GJA5): c.995G> A (p.Arg332His) single nucleotide variant Uncertain significance rs116551187 GRCh38 Chromosome 1, 147758244: 147758244
45 GJA5 NM_005266.6(GJA5): c.369C> T (p.Tyr123=) single nucleotide variant Benign/Likely benign rs2232191 GRCh38 Chromosome 1, 147758870: 147758870
46 GJA5 NM_005266.6(GJA5): c.369C> T (p.Tyr123=) single nucleotide variant Benign/Likely benign rs2232191 GRCh37 Chromosome 1, 147230978: 147230978
47 GJA5 NM_005266.6(GJA5): c.342C> G (p.Ala114=) single nucleotide variant Uncertain significance rs886045251 GRCh37 Chromosome 1, 147231005: 147231005
48 GJA5 NM_005266.6(GJA5): c.342C> G (p.Ala114=) single nucleotide variant Uncertain significance rs886045251 GRCh38 Chromosome 1, 147758897: 147758897
49 GJA5 NM_005266.6(GJA5): c.-61A> G single nucleotide variant Likely benign rs11552588 GRCh37 Chromosome 1, 147245383: 147245383
50 GJA5 NM_005266.6(GJA5): c.-61A> G single nucleotide variant Likely benign rs11552588 GRCh38 Chromosome 1, 147773279: 147773279
Sources

Expression for Familial Atrial Fibrillation

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

Pathways for Familial Atrial Fibrillation

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

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Cardiac conduction 66
Show member pathways
 12.42 GATA4 KCNE2 KCNJ2 KCNQ1 MYL4 NKX2-5
2
BMP Pathway 64
Show member pathways
 12.27 GATA4 GATA5 GATA6 NKX2-5
3
Dopamine-DARPP32 Feedback onto cAMP Pathway 64
12.15 KCNA5 KCNE2 KCNJ2 KCNQ1
4
Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways 1
11.97 KCNQ1 SCN3B SCN4B SCN5A
5
L1CAM interactions 66
Show member pathways
 11.83 SCN2B SCN3B SCN4B SCN5A
6
Phase 0 - rapid depolarisation 66
Show member pathways
 11.51 KCNE2 KCNQ1 SCN2B SCN3B SCN4B SCN5A
7
Cardiac Progenitor Differentiation 1
11.38 GATA4 NKX2-5 SCN5A
8
Heart Development 1
11.33 GATA4 GATA6 NKX2-5 PITX2
9
Interaction between L1 and Ankyrins 66
11.03 SCN2B SCN3B SCN4B SCN5A
10
Antiarrhythmic Pathway, Pharmacodynamics 61
11.02 GJA5 KCNA5 KCNE2 KCNJ2 KCNQ1 SCN2B
11
Cardiomyocyte Differentiation through BMP Receptors 64
10.92 GATA4 NKX2-5 NPPA
12
TarBasePathway 1
10.8 KCNJ2 KCNQ1
13
HOP Signaling 64
10.28 GATA4 NKX2-5 NPPA
Sources

GO Terms for Familial Atrial Fibrillation

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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 60)
# Name GO ID Score Top Affiliating Genes
1 potassium ion transmembrane transport GO:0071805 9.97 KCNA5 KCNE2 KCNJ2 KCNQ1
2 sodium ion transport GO:0006814 9.97 SCN2B SCN3B SCN4B SCN5A
3 animal organ morphogenesis GO:0009887 9.97 GATA4 GATA5 GATA6 PITX2
4 sodium ion transmembrane transport GO:0035725 9.93 SCN2B SCN3B SCN4B SCN5A
5 regulation of ion transmembrane transport GO:0034765 9.92 KCNA5 KCNE2 KCNJ2 KCNQ1 SCN2B SCN3B
6 cardiac conduction GO:0061337 9.91 GJA5 KCNE2 KCNJ2 KCNQ1 SCN3B SCN5A
7 male gonad development GO:0008584 9.89 GATA4 GATA6 PITX2
8 cell fate commitment GO:0045165 9.87 GATA4 GATA5 GATA6
9 cell development GO:0048468 9.87 GATA4 GATA5 GATA6
10 digestive tract development GO:0048565 9.86 GATA4 GATA5 GATA6
11 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.85 GJA5 KCNE2 KCNQ1 SCN4B SCN5A
12 ventricular septum morphogenesis GO:0060412 9.84 GJA5 NKX2-5 PITX2
13 tissue development GO:0009888 9.83 GATA4 GATA5 GATA6
14 cardiac muscle cell differentiation GO:0055007 9.83 GATA4 GATA6 NKX2-5 PITX2
15 anatomical structure formation involved in morphogenesis GO:0048646 9.82 GATA4 GATA5 GATA6
16 cardiac muscle tissue development GO:0048738 9.82 GATA6 NKX2-5 PITX2
17 positive regulation of heart rate GO:0010460 9.81 KCNQ1 NPPA SCN3B
18 regulation of sodium ion transmembrane transporter activity GO:2000649 9.81 SCN2B SCN3B SCN4B
19 positive regulation of sodium ion transport GO:0010765 9.81 NKX2-5 SCN3B SCN4B SCN5A
20 regulation of membrane repolarization GO:0060306 9.8 KCNE2 KCNJ2 KCNQ1
21 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.8 GJA5 SCN2B SCN3B SCN5A
22 ventricular cardiac muscle cell action potential GO:0086005 9.8 GJA5 KCNE2 KCNQ1 SCN3B SCN5A
23 atrial septum morphogenesis GO:0060413 9.79 GATA4 GJA5 NKX2-5
24 regulation of cardiac muscle cell contraction GO:0086004 9.79 GATA4 KCNJ2 SCN5A
25 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.78 KCNA5 KCNQ1 NPPA SCN5A
26 potassium ion export GO:0071435 9.77 KCNA5 KCNE2 KCNQ1
27 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.77 GJA5 SCN3B SCN5A
28 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.77 KCNJ2 SCN2B SCN3B SCN4B SCN5A
29 intestinal epithelial cell differentiation GO:0060575 9.75 GATA4 GATA5 GATA6
30 response to vitamin A GO:0033189 9.73 GATA4 PITX2
31 regulation of cardiac muscle contraction GO:0055117 9.73 GJA5 NKX2-5
32 membrane repolarization during action potential GO:0086011 9.73 KCNE2 KCNJ2 KCNQ1
33 embryonic heart tube development GO:0035050 9.72 GJA5 NKX2-5
34 cell growth involved in cardiac muscle cell development GO:0061049 9.72 GATA4 NPPA
35 SA node cell action potential GO:0086015 9.72 GJA5 SCN3B SCN5A
36 positive regulation of potassium ion transmembrane transport GO:1901381 9.71 KCNJ2 KCNQ1
37 cardiac muscle hypertrophy in response to stress GO:0014898 9.71 GATA6 NPPA
38 cardiovascular system development GO:0072358 9.71 KCNQ1 NKX2-5
39 ventricular cardiac muscle cell development GO:0055015 9.71 NKX2-5 PITX2
40 positive regulation of cardiac muscle contraction GO:0060452 9.71 KCNQ1 NPPA
41 positive regulation of cardioblast differentiation GO:0051891 9.71 GATA4 GATA6 NKX2-5
42 membrane repolarization GO:0086009 9.7 KCNE2 KCNQ1
43 cardiac ventricle morphogenesis GO:0003208 9.7 GATA4 NKX2-5
44 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.7 KCNJ2 KCNQ1
45 cardiac muscle contraction GO:0060048 9.7 KCNQ1 MYL4 NKX2-5 SCN2B SCN3B SCN4B
46 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.69 KCNE2 KCNQ1
47 positive regulation of myoblast proliferation GO:2000288 9.69 KCNA5 PITX2
48 membrane repolarization during atrial cardiac muscle cell action potential GO:0098914 9.68 KCNA5 KCNQ1
49 AV node cell action potential GO:0086016 9.68 SCN4B SCN5A
50 cardiac conduction system development GO:0003161 9.68 GJA5 NKX2-5

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.93 GATA4 GATA5 GATA6 NKX2-5 PITX2
2 transcription factor binding GO:0008134 9.9 GATA4 GATA6 NKX2-5 PITX2
3 transcription regulatory region DNA binding GO:0044212 9.88 GATA4 GATA5 GATA6 NKX2-5
4 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding GO:0001228 9.76 GATA4 GATA5 GATA6 NKX2-5
5 potassium channel activity GO:0005267 9.74 KCNA5 KCNE2 KCNQ1
6 voltage-gated potassium channel activity GO:0005249 9.73 KCNA5 KCNE2 KCNQ1
7 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.72 GATA5 GATA6 NKX2-5
8 ion channel binding GO:0044325 9.72 KCNE2 KCNQ1 SCN3B SCN4B SCN5A
9 scaffold protein binding GO:0097110 9.67 KCNA5 KCNQ1 SCN5A
10 RNA polymerase II transcription factor binding GO:0001085 9.65 GATA4 GATA5 GATA6
11 inward rectifier potassium channel activity GO:0005242 9.59 KCNE2 KCNJ2
12 outward rectifier potassium channel activity GO:0015271 9.58 KCNA5 KCNQ1
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 delayed rectifier potassium channel activity GO:0005251 9.54 KCNA5 KCNE2 KCNQ1
16 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.52 KCNE2 KCNQ1
17 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.51 KCNJ2 KCNQ1
18 voltage-gated sodium channel activity GO:0005248 9.46 SCN2B SCN3B SCN4B SCN5A
19 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization GO:0086089 9.43 KCNA5 KCNQ1
20 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.26 SCN2B SCN3B SCN4B SCN5A
21 voltage-gated ion channel activity GO:0005244 9.23 KCNA5 KCNE2 KCNJ2 KCNQ1 SCN2B SCN3B
Sources

Sources for Familial Atrial Fibrillation

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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