MCID: ATR057
MIFTS: 54

Atrioventricular Block

Categories: Cardiovascular diseases

Aliases & Classifications for Atrioventricular Block

MalaCards integrated aliases for Atrioventricular Block:

Name: Atrioventricular Block 12 29 54 6 44 15 70
Av Block 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0050820
ICD9CM 34 426.10
MeSH 44 D054537
NCIt 50 C26703
SNOMED-CT 67 58547007
ICD10 32 I44.3
UMLS 70 C0004245

Summaries for Atrioventricular Block

Disease Ontology : 12 A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart.

MalaCards based summary : Atrioventricular Block, also known as av block, is related to first-degree atrioventricular block and second-degree atrioventricular block. An important gene associated with Atrioventricular Block is SCN5A (Sodium Voltage-Gated Channel Alpha Subunit 5), and among its related pathways/superpathways are Cardiac conduction and cGMP-PKG signaling pathway. The drugs Verapamil and Hormones have been mentioned in the context of this disorder. Affiliated tissues include heart, atrioventricular node and kidney, and related phenotypes are cardiovascular system and homeostasis/metabolism

Wikipedia : 73 Atrioventricular block (AV block) is a type of heart block that occurs when the electrical signal... more...

Related Diseases for Atrioventricular Block

Diseases related to Atrioventricular Block via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 536)
# Related Disease Score Top Affiliating Genes
1 first-degree atrioventricular block 32.7 TRIM21 SCN5A NPPB MYH7 LMNA KCNH2
2 second-degree atrioventricular block 32.7 TRIM21 SSB SCN5A HCN4
3 progressive familial heart block, type ia 32.2 SCN5A SCN1A
4 third-degree atrioventricular block 32.2 TTN-AS1 TTN TRIM21 SSB SCN5A NPPB
5 long qt syndrome 14 32.1 SCN5A KCNQ1 KCNH2
6 syncope 32.0 TTN SCN5A KCNQ1 KCNH2
7 heart septal defect 31.6 TBX5 NKX2-5 GATA4
8 progressive familial heart block 31.6 TRPM4 SCN5A NKX2-5 MYH7 KCNQ1 KCNH2
9 myocarditis 31.5 TTN PIK3C2A NPPB
10 sick sinus syndrome 31.4 TTN SCN5A LMNA HCN4
11 inferior myocardial infarction 31.4 PIK3C2A NPPB
12 left bundle branch hemiblock 31.4 SCN5A PIK3C2A NPPB LMNA
13 right bundle branch block 31.3 TRPM4 SCN5A NPPB KCNH2 HCN4
14 ventricular fibrillation, paroxysmal familial, 1 31.0 SCN5A NKX2-5 KCNQ1 KCNH2 KCNE2 KCNE1
15 ventricular septal defect 31.0 TBX5 NPPB NKX2-5 MYH7 GATA4
16 atrial standstill 1 31.0 TTN-AS1 TTN SCN5A NPPB MYH7 LMNA
17 cardiac conduction defect 31.0 TRPM4 SCN5A MYH7 LMNA KCNQ1
18 dextro-looped transposition of the great arteries 30.9 TBX5 NPPB NKX2-5 GATA4
19 mitral valve insufficiency 30.9 TTN TBX5 PIK3C2A NPPB MYH7
20 sinoatrial node disease 30.9 TBX5 SCN5A NKX2-5 KCNQ1 KCNH2 HCN4
21 familial long qt syndrome 30.9 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
22 myocardial infarction 30.8 SCN5A PIK3C2A NPPB MYH7 KCNQ1 GATA4
23 congestive heart failure 30.7 TTN SCN5A PIK3C2A NPPB MYH7 KCNQ1
24 cardiac arrhythmia 30.7 SCN5A KCNQ1 KCNH2 KCNE2
25 tricuspid atresia 30.7 TBX5 NKX2-5 GATA4
26 atrial heart septal defect 30.5 TTN TBX5 SCN5A NPPB NKX2-5 MYH7
27 wolff-parkinson-white syndrome 30.5 TTN-AS1 TTN SCN5A NPPB NKX2-5 MYH7
28 endocardial fibroelastosis 30.5 TRIM21 SSB NPPB MYH7
29 cardiac arrest 30.4 TTN SCN5A PIK3C2A NPPB MYH7 KCNQ1
30 tetralogy of fallot 30.4 TBX5 SCN5A NPPB NKX2-5 KCNH2 GATA4
31 hypoplastic left heart syndrome 30.4 TBX5 NPPB NKX2-5 GATA4
32 muscular dystrophy 30.4 TTN-AS1 TTN PIK3C2A MYH7 LMNA CRYAB
33 myopathy 30.4 TTN-AS1 TTN TRIM21 PIK3C2A MYH7 LMNA
34 double outlet right ventricle 30.3 TBX5 NKX2-5 GATA4
35 patent ductus arteriosus 1 30.3 TBX5 NPPB NKX2-5 GATA4
36 lmna-related dilated cardiomyopathy 30.3 TTN-AS1 TTN LMNA
37 cardiomyopathy, dilated, 1b 30.3 TTN-AS1 TTN SCN5A MYH7 LMNA
38 restrictive cardiomyopathy 30.3 TTN-AS1 TTN TRPM4 NPPB MYH7 LMNA
39 cardiomyopathy, dilated, 1a 30.2 TTN-AS1 TTN LMNA
40 peripartum cardiomyopathy 30.2 TTN SCN5A MYH7
41 batten-turner congenital myopathy 30.2 TTN-AS1 TTN MYH7
42 interatrial communication 30.2 TBX5 NKX2-5 GATA4
43 aortic valve disease 2 30.2 TTN TBX5 NPPB NKX2-5 MYH7 GATA4
44 atrioventricular septal defect 30.1 TBX5 NKX2-5 GATA4
45 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 30.1 SCN5A MYH7 KCNQ1 KCNH2
46 limb-girdle muscular dystrophy 30.1 TTN-AS1 TTN LMNA
47 respiratory failure 30.1 TTN-AS1 TTN PIK3C2A NPPB MYH7 GATA4
48 long qt syndrome 30.1 TTN-AS1 TTN TRPM4 SCN5A SCN1A MYH7
49 atrial fibrillation 30.1 TTN-AS1 TTN TBX5 SCN5A NPPB MYH7
50 muscular dystrophy, congenital, lmna-related 30.1 TTN-AS1 TTN MYH7 LMNA

Comorbidity relations with Atrioventricular Block via Phenotypic Disease Network (PDN): (show all 13)


Acute Cystitis Aortic Valve Disease 1
Deficiency Anemia Familial Atrial Fibrillation
First-Degree Atrioventricular Block Heart Disease
Hypertension, Essential Intermediate Coronary Syndrome
Mitral Valve Disease Right Bundle Branch Block
Sinoatrial Node Disease Third-Degree Atrioventricular Block
Transient Cerebral Ischemia

Graphical network of the top 20 diseases related to Atrioventricular Block:



Diseases related to Atrioventricular Block

Symptoms & Phenotypes for Atrioventricular Block

MGI Mouse Phenotypes related to Atrioventricular Block:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.13 GATA4 HCN4 KCNH2 KCNQ1 LMNA MYH7
2 homeostasis/metabolism MP:0005376 10.07 CRYAB GATA4 KCNE2 KCNH2 KCNQ1 LMNA
3 mortality/aging MP:0010768 9.97 GATA4 HCN4 KCNH2 LMNA MYH7 NKX2-5
4 muscle MP:0005369 9.7 CRYAB GATA4 HCN4 KCNH2 KCNQ1 LMNA
5 normal MP:0002873 9.32 GATA4 HCN4 KCNQ1 LMNA MYH7 NKX2-5

Drugs & Therapeutics for Atrioventricular Block

Drugs for Atrioventricular Block (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 30)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Verapamil Approved Phase 4 52-53-9 2520
2 Hormones Phase 4
3 Vasodilator Agents Phase 4
4 calcium channel blockers Phase 4
5 Calcium, Dietary Phase 4
6 Anti-Arrhythmia Agents Phase 4
7
Calcium Nutraceutical Phase 4 7440-70-2 271
8
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
9
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
10 Gastrointestinal Agents Phase 3
11 Antiemetics Phase 3
12 Hormone Antagonists Phase 3
13 glucocorticoids Phase 3
14 Antineoplastic Agents, Hormonal Phase 3
15 Anti-Inflammatory Agents Phase 3
16
Adenosine Approved, Investigational Phase 1 58-61-7 60961
17
Calcium carbonate Approved, Investigational Phase 1 471-34-1
18 Neurotransmitter Agents Phase 1
19 Analgesics Phase 1
20
Acetylcholine Approved, Investigational 51-84-3 187
21
Nimodipine Approved, Investigational 66085-59-4 4497
22
Thrombin Approved, Investigational
23
Midazolam Approved, Illicit 59467-70-8 4192
24 Antihypertensive Agents
25 Immunoglobulins
26 Antibodies
27 Antibodies, Antinuclear
28 Pharmaceutical Solutions
29 Hemostatics
30 Coagulants

Interventional clinical trials:

(show top 50) (show all 66)
# Name Status NCT ID Phase Drugs
1 IntAct, Study on Promotion of Intrinsic Activity. Unknown status NCT00156741 Phase 4
2 A Randomized, Prospective Multicenter Pilot Study to Determine the Influence of the Ventricular Pacing Site on the Incidence of Atrial Fibrillation and Heart Failure in Patients With Indication for Permanent Pacemaker Stimulation Therapy. Unknown status NCT00292383 Phase 4
3 Randomized Clinical Study to Assess the Safety and the Effects of Isolated Left Ventricular Pacing in Patients With Bradyarrhythmias Unknown status NCT01717469 Phase 4
4 Right Ventricular Septal Pacing for the Prevention of Left Ventricular Dysfunction in Patients With Atrio-Ventricular Block Unknown status NCT00709774 Phase 4
5 Acute and Chronic Effect of His-pacing in Consecutive Patients With AV-block Completed NCT01019213 Phase 4
6 Spontaneous Atrio Ventricular Conduction Preservation Completed NCT00655213 Phase 4
7 Atrioventricular Block and Cluster Headache Not yet recruiting NCT04406259 Phase 4 Verapamil
8 Better Pacing - Biventricular Pacing as Alternative Method in Patients With Disturbances of AV Conduction and Preserved LV Function Withdrawn NCT00559143 Phase 4
9 Comparison of SEPTal and Apical Pacing Sites in PerManent Right Ventricular Pacing Completed NCT00925691 Phase 3
10 Surveillance and Treatment to Prevent Fetal Atrioventricular Block Likely to Occur Quickly (STOP BLOQ) Recruiting NCT04474223 Phase 3 Dexamethasone;IVIG
11 Micra Atrial Tracking Using a Ventricular Accelerometer Study Completed NCT03157297 Phase 1
12 Prospective Analysis of Low-Dose Adenosine on Sinus and Atrioventricular Nodal Conduction in the Pediatric Transplanted Heart Completed NCT02462941 Phase 1 Adenosine
13 Effect of Atrioventricular Optimization on Left Ventricular Function With Dual Chamber Pacemaker; Prospective Randomized Trial Unknown status NCT03556189
14 Cohort Description of Younger With AV-block Unknown status NCT03024047
15 Impact of Left Ventricular Pacing on Left Ventricular Systolic Function in High-risk Bradycardia Patients Unknown status NCT01302717
16 Impact of Right Ventricular Pacing Determined by Electrocardiography; Prospective Randomized Trial Unknown status NCT01922518
17 BiventRicular Pacing in prolongEd Atrio-Ventricular intervaL: the REAL-CRT Study Unknown status NCT02150538
18 Multi-center, Randomized, Controlled Trial to Compare Feasibility, Safety and Efficacy of Zero-Fluoroscopic Navigation With Conventional Fluoroscopic Navigation for Single-chamber Pacemaker Implantation Unknown status NCT03118440
19 Multi-center, Randomized, Controlled Trial to Compare Feasibility, Safety and Efficacy of Zero-Fluoroscopic Navigation With Conventional Fluoroscopic Navigation for Double-chamber Pacemaker Implantation Unknown status NCT03118427
20 Left Ventricular Function and Remodelling During Permanent Pacing Unknown status NCT00228241
21 Effects of Chronic Right Ventricular Pacing in Children With Advanced Atrioventricular Block Unknown status NCT01477658
22 Minimizing Right Ventricular Pacing in Dual-chamber Pacemaker Patients With Sinus Node Disease and First Degree Atrioventricular Block. Unknown status NCT01611389
23 The Association of Acetylcholine-induced Coronary Artery Spasm With the Blood Pressure Level in Hypertensive Patients Treated With Blood Pressure Lowering Drugs Completed NCT01882790
24 The Association of Acetylcholine-induced Coronary Artery Spasm With the Blood Pressure Level Completed NCT01877993
25 CHOosing the rIght paCing Mode in Heart failurE : Should Heart Failure Patients With Bradycardia Receive Biventricular Pacemakers Rather Than Conventional Pacemakers? Completed NCT00875732
26 Optimal Pacing in Patients With First-degree AV-block Completed NCT01985802
27 Prevention of Syncope by Cardiac Pacing in Patients With Bifascicular Block Completed NCT01463358
28 Corrected QT Interval in Patients With Pacemaker Dependency (QT-TENDENCY-Study) Completed NCT01694550
29 Biventricular Pacing for Atrioventricular Block in Left Ventricular Dysfunction to Prevent Cardiac Desynchronization Completed NCT00187278
30 Biventricular Versus Right Ventricular Pacing in Heart Failure Patients With Atrioventricular Block (BLOCK HF) Completed NCT00267098
31 Clinical Evaluation of Safety and Performance of the BackBeat Moderato System Completed NCT02282033
32 Pacemaker Utilization and Ventricular Pacing in Patients Undergoing Trans-catheter Aortic Valve Replacement (TAVR) Completed NCT02994667
33 Micra Atrial TRacking Using A Ventricular AccELerometer 2 Completed NCT03752151
34 The Atrial High Rate Episodes (A-HIRATE) in Pacemaker Patients Completed NCT00627328
35 Influence of Atrial Pulse Width in the Behaviour of ACap™ Confirm Algorithm. Completed NCT00832260
36 Repolarization Disorders and Heart Conduction Disorders in Patients With Systemic Lupus Erythematous Completed NCT02162992
37 Impact of Pacing Mode and Diastolic Function on Cardiac Output Completed NCT04068233
38 Exploring Arrhythmias After Hospital Discharge in Post-Myocardial Infarction Patients - the MADDEC Project Completed NCT03231826
39 Registry on Automatic Algorhitm on Atrial Capture: REAL ACap Registry Completed NCT02400983
40 Observation of ImageReady™ MR Conditional Pacing System in China Completed NCT02636712
41 Evolution of the PR Interval in Patients Implanted With a Dual Chamber Pacemaker With Algorithm for Spontaneous AV Conduction Preservation Completed NCT02586480
42 Junctional AV Ablation in CRT-D Patients With Atrial Fibrillation (JAVA-CRT Trial) Completed NCT02946853
43 Prospective Validation of a Pre-Specified Algorithm for the Management of Conduction Disturbances Following Transcatheter Aortic Valve Replacement. The PROMOTE Study Recruiting NCT04139616
44 Accelerometer Sensing for Micra AV Study Recruiting NCT04245345
45 Pacing-induced Cardiomyopathy - the Importance of Right Ventricular Pacing Site and Patterns of Dyssynchronous Myocardial Activation Recruiting NCT04269733
46 Changes in Infranodal Conduction Times and New Onset Left Bundle Branch Block: Possible Predictors for High-grade AV Block Following Transcatheter Aortic Valve Replacement Recruiting NCT04128384
47 Comparison of a Clinical Monitoring Strategy Versus Electrophysiology-guided Algorithmic Approach in Patients With a New Left Bundle Branch Block After Transcatheter Aortic Valve Implantation (TAVI) a Bayesian Randomized Trial (COME-TAVI) Recruiting NCT03303612
48 Registry of His Bundle, Bachmann Bundle and Left Bundle Branch Area Pacing for Various Pacing Indications Recruiting NCT04749836
49 Permanent Left Bundle Branch Area Pacing for Atrioventricular Block Recruiting NCT03851315
50 Impact of Left Bundle Branch Area Pacing vs. Right Ventricular Pacing in Atrioventricular Block (LEAP-Block): A Randomized Controlled Trial Recruiting NCT04730921

Search NIH Clinical Center for Atrioventricular Block

Cochrane evidence based reviews: atrioventricular block

Genetic Tests for Atrioventricular Block

Genetic tests related to Atrioventricular Block:

# Genetic test Affiliating Genes
1 Atrioventricular Block 29

Anatomical Context for Atrioventricular Block

MalaCards organs/tissues related to Atrioventricular Block:

40
Heart, Atrioventricular Node, Kidney, Thyroid, Breast, Bone Marrow, Brain

Publications for Atrioventricular Block

Articles related to Atrioventricular Block:

(show top 50) (show all 10560)
# Title Authors PMID Year
1
Identification of a new lamin A/C mutation in a Chinese family affected with atrioventricular block as the prominent phenotype. 61 54
20155465 2010
2
Slow progressive conduction and contraction defects in loss of Nkx2-5 mice after cardiomyocyte terminal differentiation. 61 54
19546853 2009
3
Lamin A/C gene mutations in familial cardiomyopathy with advanced atrioventricular block and arrhythmia. 61 54
19638735 2009
4
Plasma levels of B-type natriuretic peptide in children and adolescents with high degree atrioventricular block. 61 54
18485504 2009
5
A novel mutation in LAMIN A/C is associated with isolated early-onset atrial fibrillation and progressive atrioventricular block followed by cardiomyopathy and sudden cardiac death. 61 54
19328042 2009
6
Molecular and clinical characterization of a novel SCN5A mutation associated with atrioventricular block and dilated cardiomyopathy. 54 61
19808398 2008
7
Novel point mutation in the NKX2-5 gene in a Moroccan family with atrioventricular conduction disturbance and an atrial septal defect in the oval fossa. 61 54
17184575 2007
8
Effect of right ventricular apex pacing on the Tei index and brain natriuretic peptide in patients with a dual-chamber pacemaker. 54 61
16981923 2006
9
Detection of cardiac sarcoidosis using cardiac markers and myocardial integrated backscatter. 61 54
15982494 2005
10
Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect. 54 61
15810002 2005
11
Function follows form: cardiac conduction system defects in Nkx2-5 mutation. 54 61
15368343 2004
12
Biochemical analyses of eight NKX2.5 homeodomain missense mutations causing atrioventricular block and cardiac anomalies. 54 61
15364612 2004
13
[Neonatal forms of congenital long QT syndrome]. 61 54
15214551 2004
14
Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations. 54 61
14998624 2004
15
Loss of lamin A/C expression revealed by immuno-electron microscopy in dilated cardiomyopathy with atrioventricular block caused by LMNA gene defects. 54 61
12898247 2003
16
Congenital long QT syndrome and 2:1 atrioventricular block with a mutation of the SCN5A gene. 54 61
12574983 2003
17
Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease. 61 54
11897440 2002
18
Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block. 54 61
11804990 2002
19
Homozygous SCN5A mutation in long-QT syndrome with functional two-to-one atrioventricular block. 54 61
11463728 2001
20
Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. 61 54
10587520 1999
21
[Temporal electric stimulation and right ventricular extension in acute postero-inferior myocardial infarction. Influence on clinical characteristics and prognosis]. 54 61
1807297 1991
22
Effects of long-term right ventricular apex pacing on left ventricular dyssynchrony, morphology and systolic function. 61
33529668 2021
23
Point-of-Care Echocardiography: A Useful Tool for Assessing Complex Arrhythmias in the Pediatric Intensive Care Unit. 61
32888799 2021
24
Cardiac conduction abnormalities in patients with degenerated bioprostheses undergoing transcatheter aortic valve-in-valve implantations and their impact on long-term outcomes. 61
33592238 2021
25
Increased ROS-Mediated CaMKII Activation Contributes to Calcium Handling Abnormalities and Impaired Contraction in Barth Syndrome. 61
33793303 2021
26
Home fetal heart rate monitoring in anti Ro/SSA positive pregnancies: Literature review and case report. 61
33556767 2021
27
Influence of left ventricular systolic function on the long-term benefit of beta-blockers after ST-segment elevation myocardial infarction. 61
33642167 2021
28
Analysis of electropharmacological and proarrhythmic effects of donepezil using the halothane-anesthetized intact dogs and the conscious chronic atrioventricular block ones. 61
33064166 2021
29
BASCULE syndrome associated with presyncopal episodes and first-degree atrioventricular block. 61
33797752 2021
30
[Organization and management of acute complete atrioventricular block: Results from a Multicenter National Survey]. 61
33642047 2021
31
Evaluation of the incidence, timing, and potential recovery rates of complete atrioventricular block after transcatheter aortic valve implantation: a Japanese multicenter registry study. 61
32418052 2021
32
Risk Factors for Postoperative Pacemaker Implantation After Rapid Deployment Aortic Valve Replacement: Results from the RADAR Registry. 61
33665760 2021
33
Epicardial adipose tissue predicted prolonged QTc interval in patients with arterial hypertension. 61
33183070 2021
34
Functional characterization of novel alpha-helical rod domain desmin (DES) pathogenic variants associated with dilated cardiomyopathy, atrioventricular block and a risk for sudden cardiac death. 61
33373648 2021
35
Efficacy of cryo-ablation during atrioventricular nodal reentrant tachycardia. 61
33113566 2021
36
Transcatheter cryo-ablation of septal accessory pathways, multicenter observational study in Japan. 61
33342639 2021
37
Management of Arrhythmias After Heart Transplant: Current State and Considerations for Future Research. 61
33685207 2021
38
Two-Week Burden of Arrhythmias across CKD Severity in a Large Community-Based Cohort: The ARIC Study. 61
33510037 2021
39
QTc prolongation in COVID-19 patients treated with hydroxychloroquine, chloroquine, azithromycin, or lopinavir/ritonavir: A systematic review and meta-analysis. 61
33772933 2021
40
Cardiac Arrhythmias in Survivors of Sudden Cardiac Death Requiring Impella Assist Device Therapy. 61
33807208 2021
41
Complete heart block in cardiac sarcoidosis reversed by corticosteroid therapy: time course of resolution. 61
33687942 2021
42
Manifestations and Outcome of Cardiac Sarcoidosis and Idiopathic Giant Cell Myocarditis by 25-Year Nationwide Cohorts. 61
33660520 2021
43
Association between electrocardiographic features and mortality in COVID-19 patients. 61
33742501 2021
44
The canine chronic atrio-ventricular block model in cardiovascular preclinical drug research. 61
33684961 2021
45
Emergency Percutaneous Treatment of Saphenous Vein Graft Perforation After Cardiac Surgery. 61
33646972 2021
46
A Validated Smartphone-based Electrocardiogram Reveals Severe Bradyarrhythmias during Immobilizing Restraint in Mice of Both Sexes and Four Strains. 61
33637137 2021
47
Comparison of half-turned truncal switch and conventional operations. 61
33667315 2021
48
Tricuspid valve detachment for ventricular septal defect closure in infants <5 kg: should we be hesitant? 61
33787866 2021
49
Vagal Reactions During Laser Balloon Ablation in Patients with Paroxysmal Atrial Fibrillation. 61
33731524 2021
50
Long-Term Outcome of Patients With Congenital Heart Disease Undergoing Cardiac Resynchronization Therapy. 61
33719495 2021

Variations for Atrioventricular Block

ClinVar genetic disease variations for Atrioventricular Block:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SCN5A NM_000335.5(SCN5A):c.892G>A (p.Gly298Ser) SNV not provided 9387 rs137854608 GRCh37: 3:38651267-38651267
GRCh38: 3:38609776-38609776
2 SCN5A NM_198056.2(SCN5A):c.4783G>A (p.Asp1595Asn) SNV not provided 9385 rs137854607 GRCh37: 3:38595800-38595800
GRCh38: 3:38554309-38554309

Expression for Atrioventricular Block

Search GEO for disease gene expression data for Atrioventricular Block.

Pathways for Atrioventricular Block

Pathways related to Atrioventricular Block according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.38 TTN TBX5 SCN5A SCN1A NKX2-5 KCNQ1
2
Show member pathways
12.35 SCN5A NPPB MYH7 KCNQ1 KCNE1 GATA4
3
Show member pathways
12.27 TBX5 NPPB NKX2-5 MYH7 GATA4
4 12.15 KCNQ1 KCNH2 KCNE2 KCNE1
5 11.66 TBX5 NKX2-5 GATA4
6
Show member pathways
11.53 SCN5A SCN1A KCNQ1 KCNE2 KCNE1
7 11.35 TBX5 SCN5A NKX2-5 GATA4
8 11.3 TBX5 NKX2-5 GATA4
9 10.92 SCN5A LMNA KCNQ1 KCNH2 KCNE2 KCNE1
10 10.86 KCNQ1 KCNE1 HCN4
11 10.8 NPPB NKX2-5 MYH7 GATA4
12 10.26 NKX2-5 GATA4

GO Terms for Atrioventricular Block

Cellular components related to Atrioventricular Block according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.72 SCN5A KCNH2 KCNE2 KCNE1 CRYAB
2 voltage-gated sodium channel complex GO:0001518 9.26 SCN5A SCN1A
3 voltage-gated potassium channel complex GO:0008076 9.26 KCNQ1 KCNH2 KCNE2 KCNE1
4 sodium channel complex GO:0034706 9.16 TRPM4 SCN1A
5 Z disc GO:0030018 9.1 TTN SCN5A SCN1A MYH7 KCNE1 CRYAB

Biological processes related to Atrioventricular Block according to GeneCards Suite gene sharing:

(show all 50)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10.13 TRPM4 SCN5A SCN1A KCNQ1 KCNH2 KCNE2
2 transmembrane transport GO:0055085 10.12 TRPM4 SCN5A SCN1A KCNQ1 KCNH2 HCN4
3 ion transmembrane transport GO:0034220 10.01 TRPM4 SCN5A SCN1A KCNH2
4 potassium ion transport GO:0006813 9.96 KCNQ1 KCNH2 KCNE2 KCNE1 HCN4
5 potassium ion transmembrane transport GO:0071805 9.95 KCNQ1 KCNH2 KCNE2 KCNE1 HCN4
6 regulation of membrane potential GO:0042391 9.92 TRPM4 SCN1A KCNH2 HCN4
7 muscle contraction GO:0006936 9.92 TTN MYH7 HCN4 CRYAB
8 regulation of ion transmembrane transport GO:0034765 9.91 SCN5A SCN1A KCNQ1 KCNH2 KCNE2 KCNE1
9 sodium ion transmembrane transport GO:0035725 9.88 SCN5A SCN1A HCN4
10 cation transmembrane transport GO:0098655 9.86 TRPM4 SCN5A SCN1A
11 cellular response to drug GO:0035690 9.85 KCNQ1 KCNH2 KCNE2
12 cellular response to cAMP GO:0071320 9.85 KCNQ1 KCNE1 HCN4
13 potassium ion import across plasma membrane GO:1990573 9.82 KCNH2 KCNE2 HCN4
14 regulation of heart rate GO:0002027 9.8 SCN5A MYH7 HCN4
15 cardiac muscle cell action potential involved in contraction GO:0086002 9.8 SCN5A SCN1A KCNE2 KCNE1
16 cardiac muscle cell differentiation GO:0055007 9.79 TBX5 NKX2-5 GATA4
17 regulation of potassium ion transmembrane transport GO:1901379 9.78 KCNH2 KCNE2 KCNE1
18 potassium ion export across plasma membrane GO:0097623 9.78 KCNQ1 KCNH2 KCNE2 KCNE1
19 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.77 KCNQ1 KCNE2 KCNE1
20 membrane depolarization during action potential GO:0086010 9.77 SCN5A SCN1A KCNH2
21 positive regulation of potassium ion transmembrane transport GO:1901381 9.76 KCNQ1 KCNH2 KCNE1
22 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.76 KCNQ1 KCNH2 KCNE2 KCNE1
23 atrial septum morphogenesis GO:0060413 9.75 TBX5 NKX2-5 GATA4
24 regulation of membrane repolarization GO:0060306 9.74 KCNQ1 KCNH2 KCNE2
25 membrane repolarization GO:0086009 9.73 KCNQ1 KCNH2 KCNE2 KCNE1
26 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.72 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
27 positive regulation of sodium ion transport GO:0010765 9.71 SCN5A NKX2-5
28 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.71 KCNQ1 KCNH2 KCNE1
29 membrane repolarization during action potential GO:0086011 9.71 KCNQ1 KCNH2 KCNE2 KCNE1
30 striated muscle contraction GO:0006941 9.7 TTN MYH7
31 regulation of cardiac muscle cell contraction GO:0086004 9.7 SCN5A GATA4
32 adult heart development GO:0007512 9.7 NKX2-5 MYH7
33 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.69 SCN5A HCN4
34 cardiac muscle tissue morphogenesis GO:0055008 9.69 TTN NKX2-5
35 endocardial cushion development GO:0003197 9.69 TBX5 GATA4
36 positive regulation of cardioblast differentiation GO:0051891 9.69 TBX5 NKX2-5 GATA4
37 atrial cardiac muscle cell action potential GO:0086014 9.68 SCN5A KCNQ1
38 ventricular cardiac muscle cell development GO:0055015 9.68 NKX2-5 LMNA
39 regulation of delayed rectifier potassium channel activity GO:1902259 9.67 KCNE2 KCNE1
40 negative regulation of voltage-gated potassium channel activity GO:1903817 9.67 KCNQ1 KCNE2
41 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.66 SCN5A KCNQ1
42 membrane depolarization during SA node cell action potential GO:0086046 9.66 SCN5A HCN4
43 membrane depolarization during AV node cell action potential GO:0086045 9.65 TRPM4 SCN5A
44 SA node cell action potential GO:0086015 9.65 SCN5A HCN4
45 ventricular cardiac muscle cell action potential GO:0086005 9.65 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
46 membrane depolarization during bundle of His cell action potential GO:0086048 9.64 TRPM4 SCN5A
47 membrane depolarization during Purkinje myocyte cell action potential GO:0086047 9.63 TRPM4 SCN5A
48 cardiac conduction GO:0061337 9.63 TRPM4 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
49 cardiac muscle contraction GO:0060048 9.43 TTN SCN5A NKX2-5 MYH7 KCNQ1 KCNH2
50 regulation of heart rate by cardiac conduction GO:0086091 9.17 TRPM4 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1

Molecular functions related to Atrioventricular Block according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 10.15 TTN TRPM4 TRIM21 LMNA KCNH2 KCNE2
2 calmodulin binding GO:0005516 9.83 TTN TRPM4 SCN5A MYH7 KCNQ1
3 ion channel binding GO:0044325 9.8 SCN5A KCNQ1 KCNE2 KCNE1
4 ion channel activity GO:0005216 9.73 TRPM4 SCN5A SCN1A KCNQ1 KCNH2 HCN4
5 potassium channel activity GO:0005267 9.72 KCNQ1 KCNH2 KCNE2 KCNE1 HCN4
6 scaffold protein binding GO:0097110 9.7 SCN5A KCNQ1 KCNH2
7 cation channel activity GO:0005261 9.69 TRPM4 SCN5A SCN1A
8 delayed rectifier potassium channel activity GO:0005251 9.67 KCNQ1 KCNH2 KCNE2 KCNE1
9 sodium channel activity GO:0005272 9.65 SCN5A SCN1A HCN4
10 voltage-gated sodium channel activity GO:0005248 9.63 SCN5A SCN1A HCN4
11 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.58 KCNQ1 KCNH2 KCNE1
12 bacterial-type RNA polymerase transcriptional activator activity, sequence-specific DNA binding GO:0001216 9.56 NKX2-5 GATA4
13 voltage-gated potassium channel activity GO:0005249 9.55 KCNQ1 KCNH2 KCNE2 KCNE1 HCN4
14 telethonin binding GO:0031433 9.54 TTN KCNE1
15 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.26 KCNQ1 KCNH2 KCNE2 KCNE1
16 voltage-gated ion channel activity GO:0005244 9.17 SCN5A SCN1A KCNQ1 KCNH2 KCNE2 KCNE1

Sources for Atrioventricular Block

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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