MCID: HRT008
MIFTS: 41

Heart Conduction Disease

Categories: Cardiovascular diseases

Aliases & Classifications for Heart Conduction Disease

MalaCards integrated aliases for Heart Conduction Disease:

Name: Heart Conduction Disease 12 15
Conduction Disorder of the Heart 29 6 40 73
Heart Rhythm Disease 12

Classifications:



External Ids:

Disease Ontology 12 DOID:10273
ICD9CM 35 426.6
SNOMED-CT 68 195053008 195056000

Summaries for Heart Conduction Disease

Disease Ontology : 12 A cardiovascular system disease that involves the heart's electrical conduction system.

MalaCards based summary : Heart Conduction Disease, also known as conduction disorder of the heart, is related to progressive familial heart block, type ia and cardiac conduction defect, and has symptoms including chest pain An important gene associated with Heart Conduction Disease is AKAP10 (A-Kinase Anchoring Protein 10), and among its related pathways/superpathways are Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways and Potassium Channels. The drugs Lidocaine and Neostigmine have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and endothelial, and related phenotypes are cardiovascular system and homeostasis/metabolism

Related Diseases for Heart Conduction Disease

Diseases related to Heart Conduction Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 progressive familial heart block, type ia 33.0 GJA5 SCN5A
2 cardiac conduction defect 32.1 AKAP10 KCNH2 KCNQ1 RYR2 SCN5A
3 sinoatrial node disease 31.9 GJA5 HCN4 SCN5A SHOX2
4 progressive familial heart block 31.9 GJA5 SCN5A
5 catecholaminergic polymorphic ventricular tachycardia 31.8 CASQ2 KCNH2 RYR2 SCN5A
6 atrioventricular block 31.6 HCN4 KCNH2 KCNQ1 SCN5A
7 brugada syndrome 31.2 HCN4 KCNA5 KCNH2 KCNQ1 SCN5A
8 atrial fibrillation 28.9 ACE F2 GJA5 HCN4 KCNA5 KCNH2
9 first-degree atrioventricular block 10.8 GJA5 SCN5A
10 familial sick sinus syndrome 10.8 HCN4 SCN5A
11 short qt syndrome 10.8
12 postural orthostatic tachycardia syndrome 10.8
13 subacute cutaneous lupus erythematosus 10.8 ACE TRIM21
14 atrial standstill 10.8 GJA5 SCN5A
15 hepatoportal sclerosis 10.7 ACE F2
16 arrhythmogenic right ventricular dysplasia, familial, 2 10.7 CASQ2 RYR2
17 brugada syndrome 1 10.7 KCNA5 KCNH2 SCN5A
18 familial short qt syndrome 10.7 KCNH2 KCNQ1
19 long qt syndrome 13 10.6 KCNH2 KCNQ1 SCN5A
20 generalized atherosclerosis 10.6 ACE CRP
21 long qt syndrome 12 10.6 KCNH2 KCNQ1 SCN5A
22 long qt syndrome 3 10.6 KCNH2 KCNQ1 SCN5A
23 malignant otitis externa 10.6 CRP F2
24 syncope 10.6 KCNH2 KCNQ1 SCN5A
25 jervell and lange-nielsen syndrome 1 10.6 KCNH2 KCNQ1 SCN5A
26 atrial standstill 1 10.6 ACE GJA5 SCN5A
27 third-degree atrioventricular block 10.5 HCN4 TRIM21
28 chronic thromboembolic pulmonary hypertension 10.5 CRP F2
29 abdominal tuberculosis 10.4 CRP F2
30 andersen cardiodysrhythmic periodic paralysis 10.4 KCNH2 KCNQ1 PVR SCN5A
31 ventricular fibrillation, paroxysmal familial, 1 10.4 KCNH2 KCNQ1 RYR2 SCN5A
32 cardiac arrhythmia 10.4 KCNH2 KCNQ1 RYR2 SCN5A
33 long qt syndrome 2 10.4 KCNH2 KCNQ1 RYR2 SCN5A
34 acquired metabolic disease 10.4 ACE CRP TNNI3K
35 ischemic heart disease 10.3 ACE CRP F2
36 sick sinus syndrome 10.3 F2 HCN4 SCN5A SHOX2
37 arteritic anterior ischemic optic neuropathy 10.3 ACE CRP F2
38 ischemic neuropathy 10.3 CRP F2
39 intermittent claudication 10.3 ACE CRP F2
40 sudden infant death syndrome 10.3 KCNH2 KCNQ1 RYR2 SCN5A
41 left ventricular noncompaction 10.3 HCN4 KCNQ1 RYR2 SCN5A
42 pulmonary edema 10.3 ACE CRP F2
43 blue toe syndrome 10.3 CRP F2
44 peripheral vascular disease 10.3 ACE CRP F2
45 arteries, anomalies of 10.3 ACE CRP F2
46 enterocele 10.2 F2 PVR
47 cardiac arrest 10.2 ACE CASQ2 KCNQ1 RYR2 SCN5A
48 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.2 CASQ2 KCNH2 KCNQ1 RYR2 SCN5A
49 long qt syndrome 5 10.2 CASQ2 KCNH2 KCNQ1 RYR2 SCN5A
50 long qt syndrome 6 10.2 CASQ2 KCNH2 KCNQ1 RYR2 SCN5A

Graphical network of the top 20 diseases related to Heart Conduction Disease:



Diseases related to Heart Conduction Disease

Symptoms & Phenotypes for Heart Conduction Disease

UMLS symptoms related to Heart Conduction Disease:


chest pain

MGI Mouse Phenotypes related to Heart Conduction Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.13 HCN4 VKORC1 KCNA5 KCNH2 ACE KCNQ1
2 homeostasis/metabolism MP:0005376 10 GJA5 TRIM21 VKORC1 KCNA5 KCNH2 ACE
3 mortality/aging MP:0010768 9.8 GJA5 TRIM21 HCN4 VKORC1 KCNH2 ACE
4 muscle MP:0005369 9.28 TNNI3K GJA5 HCN4 KCNA5 KCNH2 KCNQ1

Drugs & Therapeutics for Heart Conduction Disease

Drugs for Heart Conduction Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 87)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lidocaine Approved, Vet_approved Phase 4,Phase 2 137-58-6 3676
2
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
3
nivolumab Approved Phase 4 946414-94-4
4 Analgesics Phase 4,Phase 2,Phase 3,Phase 1
5 Anesthetics Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
6 Anesthetics, Local Phase 4,Phase 2
7 Anti-Arrhythmia Agents Phase 4,Phase 2,Phase 3
8 Central Nervous System Depressants Phase 4,Phase 2,Phase 3,Phase 1
9 Diuretics, Potassium Sparing Phase 4
10 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1
11 Pharmaceutical Solutions Phase 4,Phase 2,Phase 1
12 Sodium Channel Blockers Phase 4
13 Neurotransmitter Agents Phase 4,Phase 2,Phase 3
14 Autonomic Agents Phase 4,Phase 2,Phase 3
15 Cholinergic Agents Phase 4
16 Cholinesterase Inhibitors Phase 4
17
Glycopyrrolate Phase 4 596-51-0 3494
18
Empagliflozin Approved Phase 3 864070-44-0
19
Metformin Approved Phase 3 657-24-9 14219 4091
20
Saxagliptin Approved Phase 3 361442-04-8 11243969
21
Zinc Approved, Investigational Phase 3 7440-66-6 23994
22
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 2, Phase 3 7487-88-9 24083
23
Ramipril Approved Phase 3 87333-19-5 5362129
24 Hypoglycemic Agents Phase 3
25 Dipeptidyl-Peptidase IV Inhibitors Phase 3
26 HIV Protease Inhibitors Phase 3
27 Hormone Antagonists Phase 3
28 Hormones Phase 3,Phase 2
29 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
30 Incretins Phase 3
31 insulin Phase 3
32 Insulin, Globin Zinc Phase 3
33
protease inhibitors Phase 3
34 Adrenergic Agents Phase 2, Phase 3
35 Anticonvulsants Phase 2, Phase 3
36 calcium channel blockers Phase 2, Phase 3
37 Calcium, Dietary Phase 2, Phase 3
38 Tocolytic Agents Phase 2, Phase 3
39 Angiotensin-Converting Enzyme Inhibitors Phase 3
40 Antihypertensive Agents Phase 3,Phase 2
41
Mannitol Approved, Investigational Phase 2 69-65-8 453 6251
42
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
43
Procaine Approved, Investigational, Vet_approved Phase 2 59-46-1 4914
44
Bortezomib Approved, Investigational Phase 2 179324-69-7 387447 93860
45
rituximab Approved Phase 2 174722-31-7 10201696
46
Histidine Approved, Nutraceutical Phase 2 71-00-1 6274
47 tannic acid Approved, Nutraceutical Phase 2
48 Antibodies Phase 2
49 Immunoglobulins Phase 2
50 Cardioplegic Solutions Phase 2

Interventional clinical trials:

(show top 50) (show all 62)
# Name Status NCT ID Phase Drugs
1 Assessment of the Prognosis of Persistent Left Bundle Branch Block (LBBB)After Transcatheter Aortic Valve Implantation (TAVI ) by an Electrophysiological and Remote Monitoring Risk-adapted Algorithm Unknown status NCT02482844 Phase 4
2 Spontaneous Atrio Ventricular Conduction Preservation Completed NCT00655213 Phase 4
3 Multimodal Analgesic Technique for Control of Post-laproscopy Abdominal Pain Completed NCT03241602 Phase 4 Intraperitoneal lidocaine
4 Assessment of Cardiac Resynchronization Therapy in Patients With Wide QRS and Non-specific Intraventricular Conduction Delay: a Randomized Trial Recruiting NCT02454439 Phase 4
5 A Study of Ivabradine in African-American/Black's With Heart Failure & Left Ventricular Systolic Dysfunction Recruiting NCT03456856 Phase 4 5mg Ivabradine
6 Speed of Recovery of Reversal of Neuromuscular Blockade in Geriatric Patients Undergoing Spine Surgery Recruiting NCT03112993 Phase 4 sugammadex;Neostigmine
7 Syncope: Pacing or Recording in the Later Years Active, not recruiting NCT01423994 Phase 4
8 Evolution of the Heart Function When Monitoring Immunotherapies Anti-cancerous Inhibiting PD-1 Not yet recruiting NCT03313544 Phase 4 Nivolumab
9 Beta Blocker Interruption After Uncomplicated Myocardial Infarction Not yet recruiting NCT03498066 Phase 4 Beta-blockers withdrawal;Continuation of the Betablockers (βB) treatment
10 Comparison of AAIsafeR and DDD Modes in Non-selected Patients Completed NCT01219621 Phase 3
11 BI 10773 (Empagliflozin) Cardiovascular Outcome Event Trial in Type 2 Diabetes Mellitus Patients (EMPA-REG OUTCOME). Completed NCT01131676 Phase 3 BI 10773 low dose;Placebo BI 10773 high dose;BI 10773 high dose;Placebo BI 10773 low dose;Placebo BI 10773 low dose;Placebo BI 10773 high dose
12 Safety and Efficacy of Saxagliptin Plus Insulin With or Without Metformin Completed NCT00757588 Phase 3 Saxagliptin, 5 mg + insulin;Placebo + insulin
13 Prevention of Atrial Fibrillation by Inhibition Conversion Enzyme (ICE) After Radiofrequency Ablation of Atrial Flutter Terminated NCT00736294 Phase 3 Ramipril;Placebo
14 Labetalol Versus Magnesium Sulfate (MgSO4) for the Prevention of Eclampsia Trial Withdrawn NCT00293735 Phase 2, Phase 3 labetalol (seizure prevention);MgSO4 (seizure prevention)
15 Can Oral T3 Normalize Thyroid Hormone Levels Following Cardiopulmonary Bypass in Children? Completed NCT01780584 Phase 2 Oral T3 Low dose;Placebo;Oral T3 high dose
16 Pediatric Myocardial Protection With Potassium Cardioplegia Completed NCT03229980 Phase 2 Cold blood cardioplegia (large volume);Cold blood cardioplegia (small volume)
17 Custodiol-HTK (Histidine-tryptophan-ketoglutarate) Solution as a Cardioplegic Agent Completed NCT01681095 Phase 2 Custodiol HTK;Cold Blood Cardioplegia
18 Long-term Safety, Tolerability and Efficacy of BAF312 Given Orally in Patients With Relapsing-remitting Multiple Sclerosis Completed NCT01185821 Phase 2 BAF312
19 Multi-Drug Desensitization Protocol for Heart Transplant Candidates Terminated NCT01556347 Phase 2 Bortezomib, Thymoglobulin, Rituximab, Gamimune N, (IVIG), Plasmapheresis
20 A Study to Investigate the Safety and Efficacy of a Novel Furosemide Regimen Withdrawn NCT02721511 Phase 1, Phase 2 Furosemide Injection Solution 8mg/mL
21 Study to Test the Safety and Efficacy of Cannabidiol as a Treatment Intervention for Opioid Relapse Completed NCT01311778 Phase 1 Cannabidiol;Fentanyl
22 Systemic Lupus Erythematous and Heart Conduction Disorders Unknown status NCT02162992
23 The Safety of Flexible Bronchoscopy in Patients With Pulmonary Hypertension Unknown status NCT00986869
24 Cardiovascular Consequences of NIV Withdrawal in Patients With Myotonic Dystrophy Unknown status NCT00745238 Not Applicable
25 Effect of Bi-ventricular Pacing on Autonomous Nervous System Unknown status NCT00190138 Not Applicable
26 Left Ventricular Function and Remodelling During Permanent Pacing Unknown status NCT00228241 Not Applicable
27 Natural Evolution of AV Conduction Disorders in Patients Implanted With Cardiac Pacemakers Completed NCT00531037
28 Indication of Permanent Cardiac Parcing After Tanscatheter Aortic Valve Implantation Completed NCT02337140 Not Applicable
29 Antiarrythmic Drugs - Long-term Follow-up in the Modern Era Completed NCT01082055
30 A Study to Determine the Feasibility of Wireless Electrocardiography Completed NCT02162394
31 Implantable Loop Recorder in Hemodialysis Patients Completed NCT01252823 Not Applicable
32 Dysrhythmias During General Anesthesia in Children Completed NCT00715390
33 Bridge Occlusion Balloon in Lead Extraction Procedure Completed NCT02714153 Not Applicable
34 Application of the Triple Stimulation Technique to Patients With CNS Disorders Including Stroke Completed NCT02354248 Not Applicable
35 The Prevalence of Sleep Disordered Breathing in Hospitalized Patients With Acutely Decompensated Heart Failure Syndrome Completed NCT00701519
36 An Intervention to Improve Implantable Cardioverter-Defibrillator Deactivation Conversations Completed NCT01459744 Not Applicable
37 Transfemoral Placement of Aortic Balloon Expandable Transcatheter Valves Trial (Europe) Completed NCT00820599 Not Applicable
38 Assessment of the Prevalence of Small Fiber Peripheral Neuropathy Among Non-diabetic Obese Patients Completed NCT02767583 Not Applicable
39 Left Ventricular Septum Pacing in Patients by Transvenous Approach Through the Inter-ventricular Septum Completed NCT01609738
40 Hemofiltration in Acute Ischemic Stroke Completed NCT03454867 Not Applicable
41 Study to Evaluate Hemodynamic Effect of Different Loading Doses of Precedex in Post-surgical Intensive Care Unit (ICU) Patients Completed NCT01169571 Dexmedetomidine
42 Advisa MRI Clinical Study Completed NCT01110915 Not Applicable
43 Placement of Aortic Balloon Expandable Transcatheter Valves Trial (TransApical) Completed NCT01238835 Not Applicable
44 Study on the Influence of Fluoroscopy in the Diagnosis of Peripheral Lung Lesions With Endobronchial Ultrasound Guidance Completed NCT01863836 Not Applicable
45 Follow up of Post-repair Tetralogy of Fallot Completed NCT00266188
46 Identification of Genetic Basis of Atrioventricular Conduction Defects: From Congenital Forms to Degenerative Forms Recruiting NCT02881671
47 Retrospective Observational Study of Patients With a Sutureless Aortic Valve Implanted in the Cardiovascular and Thoracic Surgery Department of Dijon CHU Recruiting NCT03259945
48 Correlation Between the 'Nine Holes Peg Test' Performance and the Triple Stimulation Technique Within a Group a Patients With Multiple Sclerosis Recruiting NCT02805634 Not Applicable
49 Revisit the Value of Imaging in Best Using CArdiac Resynchronization Therapy Recruiting NCT02528032 Not Applicable
50 Fabry's Disease and Pregnancy (PREFAB) Recruiting NCT02582294

Search NIH Clinical Center for Heart Conduction Disease

Genetic Tests for Heart Conduction Disease

Genetic tests related to Heart Conduction Disease:

# Genetic test Affiliating Genes
1 Conduction Disorder of the Heart 29 AKAP10

Anatomical Context for Heart Conduction Disease

MalaCards organs/tissues related to Heart Conduction Disease:

41
Heart, Testes, Endothelial, Thyroid, Lung

Publications for Heart Conduction Disease

Variations for Heart Conduction Disease

ClinVar genetic disease variations for Heart Conduction Disease:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RYR2 NM_001035.2(RYR2): c.5416G> A (p.Ala1806Thr) single nucleotide variant Uncertain significance rs767728159 GRCh38 Chromosome 1, 237614544: 237614544
2 RYR2 NM_001035.2(RYR2): c.5416G> A (p.Ala1806Thr) single nucleotide variant Uncertain significance rs767728159 GRCh37 Chromosome 1, 237777844: 237777844

Expression for Heart Conduction Disease

Search GEO for disease gene expression data for Heart Conduction Disease.

Pathways for Heart Conduction Disease

Pathways related to Heart Conduction Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.67 KCNH2 KCNQ1 RYR2 SCN5A
2
Show member pathways
11.43 HCN4 KCNA5 KCNH2 KCNQ1
3 10.97 CASQ2 GJA5 HCN4 KCNA5 KCNH2 KCNQ1
4 10.6 HCN4 KCNQ1
5 10.43 F2 VKORC1

GO Terms for Heart Conduction Disease

Cellular components related to Heart Conduction Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated potassium channel complex GO:0008076 9.43 KCNA5 KCNH2 KCNQ1
2 junctional sarcoplasmic reticulum membrane GO:0014701 9.16 CASQ2 RYR2
3 intercalated disc GO:0014704 9.13 GJA5 KCNA5 SCN5A
4 Z disc GO:0030018 8.92 CASQ2 KCNA5 RYR2 SCN5A

Biological processes related to Heart Conduction Disease according to GeneCards Suite gene sharing:

(show all 44)
# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.99 CASQ2 KCNQ1 RYR2 SCN5A
2 regulation of ion transmembrane transport GO:0034765 9.92 HCN4 KCNA5 KCNH2 KCNQ1 SCN5A
3 potassium ion transport GO:0006813 9.91 GJA5 HCN4 KCNA5 KCNH2 KCNQ1
4 potassium ion transmembrane transport GO:0071805 9.89 HCN4 KCNA5 KCNH2 KCNQ1
5 regulation of membrane potential GO:0042391 9.87 HCN4 KCNA5 KCNH2
6 regulation of cardiac conduction GO:1903779 9.8 CASQ2 RYR2 TNNI3K
7 cardiac conduction GO:0061337 9.8 GJA5 KCNH2 KCNQ1 SCN5A
8 regulation of membrane repolarization GO:0060306 9.71 CASQ2 KCNH2 KCNQ1
9 positive regulation of heart rate GO:0010460 9.69 KCNQ1 RYR2
10 potassium ion homeostasis GO:0055075 9.68 KCNA5 KCNH2
11 positive regulation of potassium ion transmembrane transport GO:1901381 9.68 KCNH2 KCNQ1
12 regulation of blood vessel diameter GO:0097746 9.68 ACE GJA5
13 detection of calcium ion GO:0005513 9.68 CASQ2 RYR2
14 cellular response to epinephrine stimulus GO:0071872 9.67 KCNQ1 RYR2
15 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.67 GJA5 RYR2
16 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.67 HCN4 SCN5A
17 regulation of cardiac muscle contraction GO:0055117 9.67 GJA5 HCN4 RYR2 TNNI3K
18 membrane repolarization GO:0086009 9.66 KCNH2 KCNQ1
19 peptidyl-glutamic acid carboxylation GO:0017187 9.66 F2 VKORC1
20 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.65 KCNH2 KCNQ1
21 negative regulation of potassium ion transport GO:0043267 9.65 CASQ2 KCNA5
22 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.65 GJA5 SCN5A
23 atrial cardiac muscle cell action potential GO:0086014 9.65 KCNA5 KCNQ1 SCN5A
24 cardiac muscle contraction GO:0060048 9.65 CASQ2 KCNH2 KCNQ1 RYR2 SCN5A
25 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.64 GJA5 SCN5A
26 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.64 KCNH2 KCNQ1
27 cellular response to caffeine GO:0071313 9.63 CASQ2 RYR2
28 potassium ion export GO:0071435 9.63 KCNA5 KCNH2 KCNQ1
29 membrane repolarization during action potential GO:0086011 9.62 KCNH2 KCNQ1
30 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.62 GJA5 KCNH2 KCNQ1 SCN5A
31 membrane repolarization during atrial cardiac muscle cell action potential GO:0098914 9.61 KCNA5 KCNQ1
32 membrane depolarization during SA node cell action potential GO:0086046 9.61 HCN4 SCN5A
33 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.61 KCNA5 KCNQ1 SCN5A
34 potassium ion export across plasma membrane GO:0097623 9.6 KCNH2 KCNQ1
35 regulation of AV node cell action potential GO:0098904 9.58 GJA5 RYR2
36 AV node cell to bundle of His cell communication GO:0086067 9.58 GJA5 SCN5A
37 SA node cell action potential GO:0086015 9.58 GJA5 HCN4 SCN5A
38 regulation of atrial cardiac muscle cell action potential GO:0098910 9.57 GJA5 RYR2
39 Purkinje myocyte to ventricular cardiac muscle cell signaling GO:0086029 9.56 CASQ2 RYR2
40 regulation of heart rate GO:0002027 9.55 CASQ2 HCN4 RYR2 SCN5A TNNI3K
41 ventricular cardiac muscle cell action potential GO:0086005 9.35 GJA5 KCNH2 KCNQ1 RYR2 SCN5A
42 regulation of heart rate by cardiac conduction GO:0086091 9.1 GJA5 HCN4 KCNA5 KCNH2 KCNQ1 SCN5A
43 ion transport GO:0006811 10.09 HCN4 KCNA5 KCNH2 KCNQ1 RYR2 SCN5A
44 transmembrane transport GO:0055085 10.09 GJA5 HCN4 KCNA5 KCNH2 KCNQ1 RYR2

Molecular functions related to Heart Conduction Disease according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 ion channel binding GO:0044325 9.7 KCNQ1 RYR2 SCN5A
2 potassium channel activity GO:0005267 9.62 HCN4 KCNA5 KCNH2 KCNQ1
3 voltage-gated potassium channel activity GO:0005249 9.56 HCN4 KCNA5 KCNH2 KCNQ1
4 delayed rectifier potassium channel activity GO:0005251 9.54 KCNA5 KCNH2 KCNQ1
5 protein kinase A regulatory subunit binding GO:0034237 9.51 KCNQ1 RYR2
6 protein kinase A catalytic subunit binding GO:0034236 9.49 KCNQ1 RYR2
7 outward rectifier potassium channel activity GO:0015271 9.48 KCNA5 KCNQ1
8 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.46 KCNH2 KCNQ1
9 scaffold protein binding GO:0097110 9.46 KCNA5 KCNH2 KCNQ1 SCN5A
10 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.43 KCNH2 KCNQ1
11 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization GO:0086089 9.4 KCNA5 KCNQ1
12 ion channel activity GO:0005216 9.35 HCN4 KCNA5 KCNH2 RYR2 SCN5A
13 voltage-gated ion channel activity GO:0005244 9.02 HCN4 KCNA5 KCNH2 KCNQ1 SCN5A

Sources for Heart Conduction Disease

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
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