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ATFB
MCID: FML001
MIFTS: 54

Familial Atrial Fibrillation (ATFB)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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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 Respiratory diseases Blood 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, edema and chest pain. An important gene associated with Familial Atrial Fibrillation is MYL4 (Myosin Light Chain 4), and among its related pathways/superpathways are Cardiac conduction and DREAM Repression and Dynorphin Expression. 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 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.

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 75)
# Related Disease Score Top Affiliating Genes
1 long qt syndrome 30.3 KCNA5 KCNE2 KCNJ2 KCNQ1 SCN4B SCN5A
2 atrial fibrillation 30.3 ATFB1 ATFB2 ATFB5 GATA6 GJA5 KCNA5
3 atrial fibrillation, familial, 3 12.6
4 atrial fibrillation, familial, 4 12.6
5 atrial fibrillation, familial, 6 12.6
6 atrial fibrillation, familial, 7 12.6
7 atrial fibrillation, familial, 9 12.6
8 atrial fibrillation, familial, 10 12.6
9 atrial fibrillation, familial, 15 12.6
10 atrial fibrillation, familial, 18 12.6
11 atrial fibrillation, familial, 2 12.4
12 atrial fibrillation, familial, 5 12.4
13 atrial fibrillation, familial, 8 12.4
14 long qt syndrome 10 12.0
15 brugada syndrome 7 12.0
16 atrial fibrillation, familial, 1 11.3
17 atrial fibrillation, familial, 11 11.2
18 atrial fibrillation, familial, 12 11.2
19 atrial fibrillation, familial, 13 11.2
20 atrial fibrillation, familial, 14 11.2
21 long qt syndrome 12 10.3 KCNE2 KCNQ1 SCN5A
22 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.3 KCNJ2 KCNQ1 SCN5A
23 familial short qt syndrome 10.3 KCNJ2 KCNQ1
24 long qt syndrome 3 10.3 KCNE2 KCNQ1 SCN5A
25 short qt syndrome 10.3 KCNE2 KCNJ2 KCNQ1
26 atrial standstill 10.3 GJA5 NPPA SCN5A
27 long qt syndrome 5 10.3 KCNE2 KCNJ2 KCNQ1 SCN5A
28 partial atrioventricular canal 10.3 GATA4 GATA6
29 progressive familial heart block, type ia 10.3 GJA5 SCN5A
30 long qt syndrome 6 10.3 KCNE2 KCNJ2 KCNQ1 SCN5A
31 cardiac arrhythmia 10.3 KCNE2 KCNJ2 KCNQ1 SCN5A
32 complete atrioventricular canal-ventricle hypoplasia syndrome 10.3 GATA4 GATA6
33 andersen cardiodysrhythmic periodic paralysis 10.3 KCNE2 KCNJ2 KCNQ1 SCN5A
34 familial progressive cardiac conduction defect 10.3 NKX2-5 SCN5A
35 long qt syndrome 2 10.3 KCNE2 KCNJ2 KCNQ1 SCN5A
36 intrinsic cardiomyopathy 10.3 KCNE2 KCNJ2 KCNQ1 SCN5A
37 syncope 10.3 KCNJ2 KCNQ1 NPPA SCN5A
38 first-degree atrioventricular block 10.3 GJA5 SCN5A
39 heart conduction disease 10.3 GJA5 KCNA5 KCNJ2 KCNQ1 SCN5A
40 long qt syndrome 13 10.3 KCNQ1 SCN5A
41 jervell and lange-nielsen syndrome 1 10.3 KCNE2 KCNQ1 SCN4B SCN5A
42 ventricular fibrillation, paroxysmal familial, 1 10.3 KCNE2 KCNQ1 NKX2-5 SCN5A
43 third-degree atrioventricular block 10.2 KCNE2 SCN5A
44 brugada syndrome 1 10.2 KCNA5 SCN5A
45 long qt syndrome 1 10.2 KCNE2 KCNJ2 KCNQ1 SCN4B SCN5A
46 patent ductus arteriosus 1 10.2 GATA4 GATA6 NKX2-5
47 heart septal defect 10.2 GATA4 GATA6 NKX2-5
48 atrioventricular septal defect 10.2 GATA4 GATA6 NKX2-5
49 atrial heart septal defect 10.2 GATA4 GATA6 NKX2-5
50 right bundle branch block 10.2 SCN2B SCN3B SCN5A

Comorbidity relations with Familial Atrial Fibrillation via Phenotypic Disease Network (PDN): (show top 50) (show all 178)


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, edema, chest pain

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 GATA4 GATA5 GJA5 KCNE2 KCNJ2 KCNQ1
4 muscle MP:0005369 9.36 GATA4 GATA5 GATA6 GJA5 KCNA5 KCNJ2
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
A SHOX2 loss-of-function mutation underlying familial atrial fibrillation. ( 30443179 )
2018
2
Generation and cardiac subtype-specific differentiation of PITX2-deficient human iPS cell lines for exploring familial atrial fibrillation. ( 28677534 )
2017
3
Familial clustering of atrial fibrillation and comparative longitudinal outcomes of familial and non-familial atrial fibrillation. ( 28485191 )
2017
4
A frameshift deletion in the sarcomere gene MYL4 causes early-onset familial atrial fibrillation. ( 27742809 )
2017
5
Prognosis in Familial Atrial Fibrillation. ( 27866163 )
2016
6
A mutation in the atrial-specific myosin light chain gene (MYL4) causes familial atrial fibrillation. ( 27066836 )
2016
7
NKX2-6 mutation predisposes to familial atrial fibrillation. ( 25319568 )
2014
8
A novel PITX2c loss-of-function mutation associated with familial atrial fibrillation. ( 24333117 )
2014
9
Whole-exome sequencing in familial atrial fibrillation. ( 24727801 )
2014
10
Mutations of the SCN4B-encoded sodium channel I^4 subunit in familial atrial fibrillation. ( 23604097 )
2013
11
Familial atrial fibrillation predicts increased risk of mortality: a study in Danish twins. ( 23255276 )
2013
12
Prevalence and spectrum of PITX2c mutations associated with familial atrial fibrillation. ( 23611745 )
2013
13
Characteristics of atrial fibrillation and comorbidities in familial atrial fibrillation. ( 23551519 )
2013
14
A novel NKX2.5 loss-of-function mutation responsible for familial atrial fibrillation. ( 23525379 )
2013
15
A KCNQ1 mutation causes a high penetrance for familial atrial fibrillation. ( 23350853 )
2013
16
In silico investigation of a KCNQ1 mutation associated with familial atrial fibrillation. ( 24411289 )
2013
17
Chromosome 4q25 variants are genetic modifiers of rare ion channel mutations associated with familial atrial fibrillation. ( 22818067 )
2012
18
Mutational spectrum of the GATA5 gene associated with familial atrial fibrillation. of Shanghai Jiaotong University, Shanghai 200030, China. ( 22483626 )
2012
19
Mutations in the potassium channel subunit KCNE1 are associated with early-onset familial atrial fibrillation. ( 22471742 )
2012
20
Novel GATA6 loss-of-function mutation responsible for familial atrial fibrillation. ( 22824924 )
2012
21
Prevalence and spectrum of GATA6 mutations associated with familial atrial fibrillation. ( 22257684 )
2012
22
Novel GATA5 loss-of-function mutations underlie familial atrial fibrillation. ( 23295592 )
2012
23
GATA4 loss-of-function mutations in familial atrial fibrillation. ( 21708142 )
2011
24
R231C mutation in KCNQ1 causes long QT syndrome type 1 and familial atrial fibrillation. ( 20850564 )
2011
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
Augmented potassium current is a shared phenotype for two genetic defects associated with familial atrial fibrillation. ( 19646991 )
2010
28
Laminopathy presenting as familial atrial fibrillation. ( 20472316 )
2010
29
Novel connexin40 missense mutations in patients with familial atrial fibrillation. ( 20650941 )
2010
30
Genetics of familial atrial fibrillation. ( 19666641 )
2009
31
Atrial natriuretic peptide frameshift mutation in familial atrial fibrillation. ( 18614783 )
2008
32
A novel SCN5A gain-of-function mutation M1875T associated with familial atrial fibrillation. ( 18929244 )
2008
33
A mutation in the sodium channel is responsible for the association of long QT syndrome and familial atrial fibrillation. ( 18929331 )
2008
34
Prolonged signal-averaged P-wave duration as an intermediate phenotype for familial atrial fibrillation. ( 18342226 )
2008
35
Percutenous catheter ablation of the accessory pathway in a patient with wolff-Parkinson-white syndrome associated with familial atrial fibrillation. ( 18379660 )
2008
36
Mapping a novel locus for familial atrial fibrillation on chromosome 10p11-q21. ( 17399636 )
2007
37
A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation. ( 15922306 )
2005
38
[KCNE3 R53H substitution in familial atrial fibrillation]. ( 16313760 )
2005
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 524)
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCC9 NM_005691.3(ABCC9): c.-11T> C single nucleotide variant Conflicting interpretations of pathogenicity rs72559432 GRCh37 Chromosome 12, 22089619: 22089619
2 ABCC9 NM_005691.3(ABCC9): c.-11T> C single nucleotide variant Conflicting interpretations of pathogenicity rs72559432 GRCh38 Chromosome 12, 21936685: 21936685
3 ABCC9 NM_005691.3(ABCC9): c.1165-6delT deletion Benign/Likely benign rs35857705 GRCh37 Chromosome 12, 22063252: 22063252
4 ABCC9 NM_005691.3(ABCC9): c.1165-6delT deletion Benign/Likely benign rs35857705 GRCh38 Chromosome 12, 21910318: 21910318
5 ABCC9 NM_005691.3(ABCC9): c.2631G> A (p.Thr877=) single nucleotide variant Benign/Likely benign rs139408145 GRCh37 Chromosome 12, 22005314: 22005314
6 ABCC9 NM_005691.3(ABCC9): c.2631G> A (p.Thr877=) single nucleotide variant Benign/Likely benign rs139408145 GRCh38 Chromosome 12, 21852380: 21852380
7 ABCC9 NM_005691.3(ABCC9): c.2644-11G> A single nucleotide variant Conflicting interpretations of pathogenicity rs61926078 GRCh37 Chromosome 12, 22005167: 22005167
8 ABCC9 NM_005691.3(ABCC9): c.2644-11G> A single nucleotide variant Conflicting interpretations of pathogenicity rs61926078 GRCh38 Chromosome 12, 21852233: 21852233
9 KCNJ2 NM_000891.2(KCNJ2): c.660C> T (p.Ser220=) single nucleotide variant Benign rs7221086 GRCh37 Chromosome 17, 68171840: 68171840
10 KCNJ2 NM_000891.2(KCNJ2): c.660C> T (p.Ser220=) single nucleotide variant Benign rs7221086 GRCh38 Chromosome 17, 70175699: 70175699
11 KCNQ1 NM_000218.2(KCNQ1): c.1590+14T> C single nucleotide variant Benign/Likely benign rs11024034 GRCh37 Chromosome 11, 2790163: 2790163
12 KCNQ1 NM_000218.2(KCNQ1): c.1590+14T> C single nucleotide variant Benign/Likely benign rs11024034 GRCh38 Chromosome 11, 2768933: 2768933
13 KCNQ1 NM_000218.2(KCNQ1): c.1927G> A (p.Gly643Ser) single nucleotide variant Benign/Likely benign rs1800172 GRCh37 Chromosome 11, 2869129: 2869129
14 KCNQ1 NM_000218.2(KCNQ1): c.1927G> A (p.Gly643Ser) single nucleotide variant Benign/Likely benign rs1800172 GRCh38 Chromosome 11, 2847899: 2847899
15 KCNQ1 NM_000218.2(KCNQ1): c.1942G> A (p.Val648Ile) single nucleotide variant Benign/Likely benign rs34150427 GRCh37 Chromosome 11, 2869144: 2869144
16 KCNQ1 NM_000218.2(KCNQ1): c.1942G> A (p.Val648Ile) single nucleotide variant Benign/Likely benign rs34150427 GRCh38 Chromosome 11, 2847914: 2847914
17 KCNQ1 NM_000218.2(KCNQ1): c.1222C> G (p.Pro408Ala) single nucleotide variant Benign/Likely benign rs28730756 GRCh37 Chromosome 11, 2608893: 2608893
18 KCNQ1 NM_000218.2(KCNQ1): c.1222C> G (p.Pro408Ala) single nucleotide variant Benign/Likely benign rs28730756 GRCh38 Chromosome 11, 2587663: 2587663
19 KCNQ1 NM_000218.2(KCNQ1): c.1394-14C> T single nucleotide variant Benign/Likely benign rs28730758 GRCh37 Chromosome 11, 2683177: 2683177
20 KCNQ1 NM_000218.2(KCNQ1): c.1394-14C> T single nucleotide variant Benign/Likely benign rs28730758 GRCh38 Chromosome 11, 2661947: 2661947
21 KCNQ1 NM_000218.2(KCNQ1): c.1455C> T (p.Phe485=) single nucleotide variant Benign/Likely benign rs17215465 GRCh37 Chromosome 11, 2683252: 2683252
22 KCNQ1 NM_000218.2(KCNQ1): c.1455C> T (p.Phe485=) single nucleotide variant Benign/Likely benign rs17215465 GRCh38 Chromosome 11, 2662022: 2662022
23 KCNQ1 NM_000218.2(KCNQ1): c.1638G> A (p.Ser546=) single nucleotide variant Benign rs1057128 GRCh37 Chromosome 11, 2797237: 2797237
24 KCNQ1 NM_000218.2(KCNQ1): c.1638G> A (p.Ser546=) single nucleotide variant Benign rs1057128 GRCh38 Chromosome 11, 2776007: 2776007
25 KCNQ1 NM_000218.2(KCNQ1): c.1986C> T (p.Tyr662=) single nucleotide variant Benign rs11601907 GRCh37 Chromosome 11, 2869188: 2869188
26 KCNQ1 NM_000218.2(KCNQ1): c.1986C> T (p.Tyr662=) single nucleotide variant Benign rs11601907 GRCh38 Chromosome 11, 2847958: 2847958
27 KCNQ1 NM_000218.2(KCNQ1): c.478-10G> A single nucleotide variant Benign rs28730752 GRCh37 Chromosome 11, 2591848: 2591848
28 KCNQ1 NM_000218.2(KCNQ1): c.478-10G> A single nucleotide variant Benign rs28730752 GRCh38 Chromosome 11, 2570618: 2570618
29 KCNQ1 NM_000218.2(KCNQ1): c.478-8C> T single nucleotide variant Benign/Likely benign rs150711844 GRCh37 Chromosome 11, 2591850: 2591850
30 KCNQ1 NM_000218.2(KCNQ1): c.478-8C> T single nucleotide variant Benign/Likely benign rs150711844 GRCh38 Chromosome 11, 2570620: 2570620
31 KCNQ1 NM_000218.2(KCNQ1): c.720C> T (p.His240=) single nucleotide variant Benign/Likely benign rs28730754 GRCh37 Chromosome 11, 2593279: 2593279
32 KCNQ1 NM_000218.2(KCNQ1): c.720C> T (p.His240=) single nucleotide variant Benign/Likely benign rs28730754 GRCh38 Chromosome 11, 2572049: 2572049
33 ABCC9 NM_020297.3(ABCC9): c.1164+11A> G single nucleotide variant Benign/Likely benign rs4762720 GRCh37 Chromosome 12, 22063749: 22063749
34 ABCC9 NM_020297.3(ABCC9): c.1164+11A> G single nucleotide variant Benign/Likely benign rs4762720 GRCh38 Chromosome 12, 21910815: 21910815
35 ABCC9 NM_005691.3(ABCC9): c.1165-6dupT duplication Conflicting interpretations of pathogenicity rs397517182 GRCh37 Chromosome 12, 22063252: 22063252
36 ABCC9 NM_005691.3(ABCC9): c.1165-6dupT duplication Conflicting interpretations of pathogenicity rs397517182 GRCh38 Chromosome 12, 21910318: 21910318
37 ABCC9 NM_020297.3(ABCC9): c.1296C= (p.Pro432=) single nucleotide variant Benign/Likely benign rs10770865 GRCh37 Chromosome 12, 22063115: 22063115
38 ABCC9 NM_020297.3(ABCC9): c.1296C= (p.Pro432=) single nucleotide variant Benign/Likely benign rs10770865 GRCh38 Chromosome 12, 21910181: 21910181
39 ABCC9 NM_005691.3(ABCC9): c.1557G> A (p.Glu519=) single nucleotide variant Conflicting interpretations of pathogenicity rs143346402 GRCh37 Chromosome 12, 22059121: 22059121
40 ABCC9 NM_005691.3(ABCC9): c.1557G> A (p.Glu519=) single nucleotide variant Conflicting interpretations of pathogenicity rs143346402 GRCh38 Chromosome 12, 21906187: 21906187
41 ABCC9 NM_020297.3(ABCC9): c.1848C> T (p.Asp616=) single nucleotide variant Benign/Likely benign rs61001398 GRCh37 Chromosome 12, 22040823: 22040823
42 ABCC9 NM_020297.3(ABCC9): c.1848C> T (p.Asp616=) single nucleotide variant Benign/Likely benign rs61001398 GRCh38 Chromosome 12, 21887889: 21887889
43 ABCC9 NM_020297.3(ABCC9): c.2199-11T> C single nucleotide variant Benign/Likely benign rs697250 GRCh37 Chromosome 12, 22017422: 22017422
44 ABCC9 NM_020297.3(ABCC9): c.2199-11T> C single nucleotide variant Benign/Likely benign rs697250 GRCh38 Chromosome 12, 21864488: 21864488
45 ABCC9 NM_020297.3(ABCC9): c.2424+9T> C single nucleotide variant Benign/Likely benign rs11835804 GRCh37 Chromosome 12, 22013896: 22013896
46 ABCC9 NM_020297.3(ABCC9): c.2424+9T> C single nucleotide variant Benign/Likely benign rs11835804 GRCh38 Chromosome 12, 21860962: 21860962
47 ABCC9 NM_005691.3(ABCC9): c.2862C> T (p.Asp954=) single nucleotide variant Conflicting interpretations of pathogenicity rs2291550 GRCh37 Chromosome 12, 22001088: 22001088
48 ABCC9 NM_005691.3(ABCC9): c.2862C> T (p.Asp954=) single nucleotide variant Conflicting interpretations of pathogenicity rs2291550 GRCh38 Chromosome 12, 21848154: 21848154
49 ABCC9 NM_005691.3(ABCC9): c.372T> C (p.Asn124=) single nucleotide variant Conflicting interpretations of pathogenicity rs377384557 GRCh37 Chromosome 12, 22078910: 22078910
50 ABCC9 NM_005691.3(ABCC9): c.372T> C (p.Asn124=) single nucleotide variant Conflicting interpretations of pathogenicity rs377384557 GRCh38 Chromosome 12, 21925976: 21925976
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 14)
# Super pathways Score Top Affiliating Genes
1
Cardiac conduction 66
Show member pathways
 12.42 GATA4 KCNE2 KCNJ2 KCNQ1 MYL4 NKX2-5
2
DREAM Repression and Dynorphin Expression 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
Transcriptional Regulatory Network in Embryonic Stem Cell 64
11.34 GATA4 GATA6 MYL4
9
Heart Development 1
11.33 GATA4 GATA6 NKX2-5 PITX2
10
Interaction between L1 and Ankyrins 66
11.03 SCN2B SCN3B SCN4B SCN5A
11
Antiarrhythmic Pathway, Pharmacodynamics 61
11.02 GJA5 KCNA5 KCNE2 KCNJ2 KCNQ1 SCN2B
12
Cardiomyocyte Differentiation through BMP Receptors 64
10.92 GATA4 NKX2-5 NPPA
13
TarBasePathway 1
10.8 KCNJ2 KCNQ1
14
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 voltage-gated potassium channel complex GO:0008076 9.46 KCNA5 KCNE2 KCNJ2 KCNQ1
2 Z disc GO:0030018 9.43 KCNA5 SCN3B SCN5A
3 voltage-gated sodium channel complex GO:0001518 9.26 SCN2B SCN3B SCN4B SCN5A
4 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 transport GO:0006813 9.97 GJA5 KCNA5 KCNE2 KCNJ2 KCNQ1
2 sodium ion transport GO:0006814 9.96 SCN2B SCN3B SCN4B SCN5A
3 potassium ion transmembrane transport GO:0071805 9.96 KCNA5 KCNE2 KCNJ2 KCNQ1
4 sodium ion transmembrane transport GO:0035725 9.92 SCN2B SCN3B SCN4B SCN5A
5 regulation of ion transmembrane transport GO:0034765 9.92 KCNA5 KCNE2 KCNJ2 KCNQ1 SCN2B SCN3B
6 animal organ morphogenesis GO:0009887 9.89 GATA4 GATA5 GATA6
7 cell development GO:0048468 9.85 GATA4 GATA5 GATA6
8 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.83 GJA5 KCNE2 KCNQ1 SCN4B SCN5A
9 cardiac muscle cell differentiation GO:0055007 9.82 GATA4 GATA6 NKX2-5
10 anatomical structure formation involved in morphogenesis GO:0048646 9.81 GATA4 GATA5 GATA6
11 tissue development GO:0009888 9.81 GATA4 GATA5 GATA6
12 positive regulation of heart rate GO:0010460 9.8 KCNQ1 NPPA SCN3B
13 regulation of sodium ion transmembrane transporter activity GO:2000649 9.8 SCN2B SCN3B SCN4B
14 positive regulation of sodium ion transport GO:0010765 9.8 NKX2-5 SCN3B SCN4B SCN5A
15 ventricular cardiac muscle cell action potential GO:0086005 9.8 GJA5 KCNE2 KCNQ1 SCN3B SCN5A
16 potassium ion export across plasma membrane GO:0097623 9.79 KCNA5 KCNE2 KCNQ1
17 atrial septum morphogenesis GO:0060413 9.78 GATA4 GJA5 NKX2-5
18 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.78 GJA5 SCN2B SCN3B SCN5A
19 regulation of cardiac muscle cell contraction GO:0086004 9.77 GATA4 KCNJ2 SCN5A
20 potassium ion export GO:0071435 9.77 KCNA5 KCNE2 KCNQ1
21 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.77 KCNJ2 SCN2B SCN3B SCN4B SCN5A
22 regulation of membrane repolarization GO:0060306 9.76 KCNE2 KCNJ2 KCNQ1
23 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.76 KCNA5 KCNQ1 NPPA SCN5A
24 membrane repolarization during action potential GO:0086011 9.74 KCNE2 KCNJ2 KCNQ1
25 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.73 GJA5 SCN3B SCN5A
26 membrane depolarization GO:0051899 9.72 SCN3B SCN5A
27 aortic valve morphogenesis GO:0003180 9.72 GATA4 GATA5
28 intestinal epithelial cell differentiation GO:0060575 9.72 GATA4 GATA5 GATA6
29 regulation of cardiac muscle contraction GO:0055117 9.71 GJA5 NKX2-5
30 embryonic heart tube development GO:0035050 9.71 GJA5 NKX2-5
31 cardiac muscle tissue development GO:0048738 9.71 GATA6 NKX2-5
32 cardiovascular system development GO:0072358 9.7 KCNQ1 NKX2-5
33 cell growth involved in cardiac muscle cell development GO:0061049 9.7 GATA4 NPPA
34 membrane depolarization during action potential GO:0086010 9.7 SCN3B SCN5A
35 cardiac muscle hypertrophy in response to stress GO:0014898 9.7 GATA6 NPPA
36 positive regulation of cardioblast differentiation GO:0051891 9.7 GATA4 GATA6 NKX2-5
37 cardiac muscle contraction GO:0060048 9.7 KCNQ1 MYL4 NKX2-5 SCN2B SCN3B SCN4B
38 positive regulation of potassium ion transmembrane transport GO:1901381 9.69 KCNJ2 KCNQ1
39 cardiac conduction GO:0061337 9.69 GJA5 SCN3B
40 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.69 KCNE2 KCNQ1
41 SA node cell action potential GO:0086015 9.69 GJA5 SCN3B SCN5A
42 membrane repolarization GO:0086009 9.68 KCNE2 KCNQ1
43 positive regulation of cardiac muscle contraction GO:0060452 9.68 KCNQ1 NPPA
44 cardiac ventricle morphogenesis GO:0003208 9.68 GATA4 NKX2-5
45 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.68 KCNJ2 KCNQ1
46 cardiac conduction system development GO:0003161 9.67 GJA5 NKX2-5
47 membrane repolarization during atrial cardiac muscle cell action potential GO:0098914 9.67 KCNA5 KCNQ1
48 AV node cell action potential GO:0086016 9.66 SCN4B SCN5A
49 AV node cell to bundle of His cell communication GO:0086067 9.65 GJA5 SCN5A
50 atrial cardiac muscle cell action potential GO:0086014 9.65 KCNA5 KCNQ1 NUP155 SCN3B SCN5A

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.95 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 9.86 GATA4 GATA5 GATA6 NKX2-5
4 proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001077 9.85 GATA4 GATA5 GATA6 NKX2-5 PITX2
5 potassium channel activity GO:0005267 9.74 KCNA5 KCNE2 KCNQ1
6 ion channel binding GO:0044325 9.72 KCNE2 KCNQ1 SCN3B SCN4B SCN5A
7 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.71 GATA5 GATA6 NKX2-5
8 voltage-gated potassium channel activity GO:0005249 9.7 KCNA5 KCNE2 KCNQ1
9 scaffold protein binding GO:0097110 9.67 KCNA5 KCNQ1 SCN5A
10 delayed rectifier potassium channel activity GO:0005251 9.61 KCNA5 KCNE2 KCNQ1
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 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.58 KCNE2 KCNQ1
14 sodium channel regulator activity GO:0017080 9.58 SCN2B SCN3B SCN4B
15 sodium channel activity GO:0005272 9.56 SCN2B SCN3B SCN4B SCN5A
16 enhancer sequence-specific DNA binding GO:0001158 9.54 GATA4 GATA5 GATA6
17 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.51 KCNJ2 KCNQ1
18 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization GO:0086089 9.48 KCNA5 KCNQ1
19 voltage-gated sodium channel activity GO:0005248 9.46 SCN2B SCN3B SCN4B SCN5A
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
22 sequence-specific DNA binding GO:0043565 10 GATA4 GATA5 GATA6 NKX2-5 PITX2
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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