SUDS
MCID: BRG001
MIFTS: 70

Brugada Syndrome (SUDS)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Brugada Syndrome

MalaCards integrated aliases for Brugada Syndrome:

Name: Brugada Syndrome 12 75 24 53 25 59 37 29 55 6 44 15 40 72
Sudden Unexpected Nocturnal Death Syndrome 24 53 25 72
Sudden Unexplained Nocturnal Death Syndrome 12 59 72
Pokkuri Death Syndrome 12 25 59
Bangungut 12 25 59
Sunds 12 25 59
Idiopathic Ventricular Fibrillation, Brugada Type 25 59
Sudden Unexplained Death 29 6
Dream Disease 12 59
Right Bundle Branch Block, St Segment Elevation, and Sudden Death Syndrome 53
Brugada Type Idiopathic Ventricular Fibrillation 12
Sudden Unexplained Death Syndrome 25
Death, Sudden, Unexplained 40
Suds 25

Characteristics:

Orphanet epidemiological data:

59
brugada syndrome
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adult;

GeneReviews:

24
Penetrance Among individuals with an scn5a pathogenic variant:...

Classifications:



External Ids:

Disease Ontology 12 DOID:0050451
KEGG 37 H00728
MeSH 44 D053840
ICD10 33 I49.8
MESH via Orphanet 45 D053840
ICD10 via Orphanet 34 I49.8
UMLS via Orphanet 73 C1142166 C1955837
Orphanet 59 ORPHA130
UMLS 72 C1142166 C1721096 C1955837 more

Summaries for Brugada Syndrome

Genetics Home Reference : 25 Brugada syndrome is a condition that causes a disruption of the heart's normal rhythm. Specifically, this disorder can lead to irregular heartbeats in the heart's lower chambers (ventricles), which is an abnormality called ventricular arrhythmia. If untreated, the irregular heartbeats can cause fainting (syncope), seizures, difficulty breathing, or sudden death. These complications typically occur when an affected person is resting or asleep. Brugada syndrome usually becomes apparent in adulthood, although it can develop any time throughout life. Signs and symptoms related to arrhythmias, including sudden death, can occur from early infancy to late adulthood. Sudden death typically occurs around age 40. This condition may explain some cases of sudden infant death syndrome (SIDS), which is a major cause of death in babies younger than 1 year. SIDS is characterized by sudden and unexplained death, usually during sleep. Sudden unexplained nocturnal death syndrome (SUNDS) is a condition characterized by unexpected cardiac arrest in young adults, usually at night during sleep. This condition was originally described in Southeast Asian populations, where it is a major cause of death. Researchers have determined that SUNDS and Brugada syndrome are the same disorder.

MalaCards based summary : Brugada Syndrome, also known as sudden unexpected nocturnal death syndrome, is related to brugada syndrome 2 and brugada syndrome 1. An important gene associated with Brugada Syndrome is SCN5A (Sodium Voltage-Gated Channel Alpha Subunit 5), and among its related pathways/superpathways are MAPK signaling pathway and Calcium signaling pathway. The drugs Procainamide and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and eye, and related phenotypes are syncope and cardiac arrest

Disease Ontology : 12 A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death.

NIH Rare Diseases : 53 Brugada syndrome is a heart condition that causes a disruption of the normal rhythm in the heart's lower chambers (ventricular arrhythmia). Signs and symptoms usually develop in adulthood but the diagnosis may be made at any age. Symptoms and complications often occur during rest or sleep, and may include fainting, seizures, difficulty breathing, or sudden death. Brugada syndrome may be caused by a mutation in any of at least 16 genes (most commonly the SCN5A gene) and is inherited in an autosomal dominant manner. An acquired (nongenetic) form has been associated with certain drugs; abnormally high blood levels of calcium or potassium; or very low levels of potassium. In some cases, the cause of Brugada syndrome is unknown. Treatment may include use of an implantable cardioverter defibrillator (ICD).

KEGG : 37
The Brugada syndrome (BRS) is an autosomal dominant genetic disorder that is characterised by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. Diagnosis is based on clinical findings. Mutations in nine genes (SCN5A, GPD1L, CACNA1C, CACNB2, SCN1B, KCNE3, SCN3B, HCN4, and KCND3) are known to cause BRS. In approximately 20% of the cases BRS is caused by mutations in the SCN5A gene, encoding the cardiac sodium channel.

Wikipedia : 75 Brugada syndrome (BrS) is a genetic disorder in which the electrical activity within the heart is... more...

GeneReviews: NBK1517

Related Diseases for Brugada Syndrome

Diseases in the Brugada Syndrome family:

Brugada Syndrome 1 Brugada Syndrome 2
Brugada Syndrome 3 Brugada Syndrome 4
Brugada Syndrome 5 Brugada Syndrome 6
Brugada Syndrome 7 Brugada Syndrome 8
Brugada Syndrome 9

Diseases related to Brugada Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 241)
# Related Disease Score Top Affiliating Genes
1 brugada syndrome 2 35.4 SCN5A GPD1L
2 brugada syndrome 1 35.4 SCN5A KCNJ8 KCNH2
3 brugada syndrome 5 35.3 SCN5A SCN1B
4 ventricular fibrillation, paroxysmal familial, 1 33.9 SCN5A KCNH2 CACNA1C
5 sick sinus syndrome 32.2 SCN5A HCN4 CACNA1C
6 right bundle branch block 32.1 TRPM4 SCN5A SCN3B SCN2B SCN1B KCND3
7 cardiac arrhythmia 32.1 SCN5A KCNH2 CACNA1C
8 cardiac arrest 31.9 SCN5A KCNH2 CALM2 CACNB2
9 atrioventricular block 31.9 TRPM4 SCN5A KCNH2 HCN4
10 arrhythmogenic right ventricular cardiomyopathy 31.9 SCN5A PKP2 KCNH2 HCN4
11 atrial standstill 1 31.8 SCN5A SCN1B PKP2
12 atrial fibrillation 31.7 SCN5A SCN3B SCN2B SCN1B KCNH2 HCN4
13 short qt syndrome 31.6 TRPM4 KCNH2 CACNB2 CACNA2D1 CACNA1C
14 sudden infant death syndrome 31.3 SCN5A SCN3B SCN2B KCNJ8 KCNH2 GPD1L
15 heart disease 31.3 SCN5A PKP2 KCNH2 HCN4 CACNA1C
16 familial progressive cardiac conduction defect 31.3 TRPM4 SCN5A SCN1B
17 familial sick sinus syndrome 31.3 SCN5A HCN4
18 dilated cardiomyopathy 31.1 SCN5A PKP2 KCNH2 CACNB2 CACNA1C ABCC9
19 long qt syndrome 6 31.1 SCN5A KCNH2 CACNA1C
20 familial short qt syndrome 31.1 KCNH2 CACNA2D1
21 hypokalemic periodic paralysis, type 1 31.1 KCNE5 KCNE3 CACNA1C
22 timothy syndrome 31.0 KCNH2 CACNB2 CACNA2D1 CACNA1C
23 catecholaminergic polymorphic ventricular tachycardia 31.0 SCN5A KCNH2 CALM2
24 coronary artery vasospasm 30.9 KCNJ8 ABCC9
25 long qt syndrome 30.8 TRPM4 SCN5A SCN1B PKP2 KCNH2 KCNE5
26 third-degree atrioventricular block 30.8 SCN5A HCN4
27 familial atrial fibrillation 30.4 SCN5A SCN3B SCN2B SCN1B KCNH2 KCNE5
28 long qt syndrome 1 30.1 SCN5A SCN10A PKP2 KCNH2 KCNE3 HCN4
29 brugada syndrome 4 12.8
30 brugada syndrome 3 12.8
31 brugada syndrome 6 12.7
32 brugada syndrome 8 12.7
33 brugada syndrome 9 12.7
34 brugada syndrome 7 12.7
35 progressive familial heart block, type ia 11.7
36 sudden arrhythmia death syndrome 11.5
37 central hypoventilation syndrome, congenital 11.3
38 epileptic encephalopathy, early infantile, 13 11.3
39 cardiac conduction defect 11.1
40 syncope 11.1
41 progressive familial heart block, type ib 10.9
42 progressive familial heart block 10.9 TRPM4 SCN5A SCN1B
43 jervell and lange-nielsen syndrome 1 10.9 SCN5A KCNH2 CACNA1C
44 heart conduction disease 10.8 SCN5A KCNH2 KCND3 HCN4
45 cantu syndrome 10.8 KCNJ8 CACNA1C ABCC9
46 intrinsic cardiomyopathy 10.7 SCN5A PKP2 KCNH2
47 long qt syndrome 13 10.7 SCN5A KCNH2
48 cardiomyopathy, dilated, 1o 10.6 KCNJ8 ABCC9
49 long qt syndrome 12 10.6 SCN5A KCNH2
50 long qt syndrome 3 10.5

Graphical network of the top 20 diseases related to Brugada Syndrome:



Diseases related to Brugada Syndrome

Symptoms & Phenotypes for Brugada Syndrome

Human phenotypes related to Brugada Syndrome:

59 32 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 syncope 59 32 frequent (33%) Frequent (79-30%) HP:0001279
2 cardiac arrest 59 32 frequent (33%) Frequent (79-30%) HP:0001695
3 right bundle branch block 59 32 frequent (33%) Frequent (79-30%) HP:0011712
4 st segment elevation 59 32 frequent (33%) Frequent (79-30%) HP:0012251
5 first degree atrioventricular block 59 32 occasional (7.5%) Occasional (29-5%) HP:0011705
6 supraventricular tachycardia 59 32 occasional (7.5%) Occasional (29-5%) HP:0004755
7 ventricular fibrillation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001663
8 sick sinus syndrome 59 32 occasional (7.5%) Occasional (29-5%) HP:0011704
9 paroxysmal ventricular tachycardia 59 32 occasional (7.5%) Occasional (29-5%) HP:0004751
10 trifascicular block 59 32 very rare (1%) Very rare (<4-1%) HP:0011715
11 tachycardia 59 Occasional (29-5%)
12 ventricular arrhythmia 59 Very rare (<4-1%)

GenomeRNAi Phenotypes related to Brugada Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 ABCC9 CACNA1C CACNA2D1 CACNB2 CALM2 GPD1L

MGI Mouse Phenotypes related to Brugada Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.8 ABCC9 CACNA1C CACNA2D1 CACNB2 HCN4 KCND3
2 muscle MP:0005369 9.17 ABCC9 CACNA1C CACNA2D1 HCN4 KCNH2 PKP2

Drugs & Therapeutics for Brugada Syndrome

Drugs for Brugada Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 106)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Procainamide Approved Phase 4 51-06-9 4913
2 Anti-Infective Agents Phase 4
3 Anti-Infective Agents, Local Phase 4
4
Amifampridine Approved, Investigational Phase 3 54-96-6
5
Buprenorphine Approved, Illicit, Investigational, Vet_approved Phase 2, Phase 3 52485-79-7 40400 644073
6
Lacosamide Approved Phase 3 175481-36-4, 860352-01-8 219078
7
Promethazine Approved, Investigational Phase 2, Phase 3 60-87-7 4927
8
Suvorexant Approved, Investigational Phase 2, Phase 3 1030377-33-3
9
Diphenhydramine Approved, Investigational Phase 2, Phase 3 58-73-1, 147-24-0 3100
10
Quinidine Approved, Investigational Phase 3 56-54-2 441074
11 Hydroquinidine Investigational Phase 3 1435-55-8
12 Neuromuscular Agents Phase 3
13 Potassium Channel Blockers Phase 3
14 Anticonvulsants Phase 3
15 Pharmaceutical Solutions Phase 3
16 Orexin Receptor Antagonists Phase 2, Phase 3
17 Hypnotics and Sedatives Phase 2, Phase 3
18 Analgesics, Opioid Phase 2, Phase 3
19 Cytochrome P-450 CYP2D6 Inhibitors Phase 3
20 Sodium Channel Blockers Phase 3
21 Quinidine gluconate Phase 3
22 Cytochrome P-450 Enzyme Inhibitors Phase 3
23 Diuretics, Potassium Sparing Phase 3
24 Adrenergic alpha-Antagonists Phase 3
25 Muscarinic Antagonists Phase 3
26 Cholinergic Agents Phase 3
27 Cholinergic Antagonists Phase 3
28 Adrenergic Agents Phase 3
29 Adrenergic Antagonists Phase 3
30 Anti-Arrhythmia Agents Phase 3
31 Antiparasitic Agents Phase 3
32 Antimalarials Phase 3
33 Antiprotozoal Agents Phase 3
34 Parasympatholytics Phase 3
35 Autonomic Agents Phase 3
36
Cycloserine Approved Phase 2 68-41-7 6234 401
37
Methamphetamine Approved, Illicit Phase 1, Phase 2 537-46-2 10836
38
Amphetamine Approved, Illicit, Investigational Phase 1, Phase 2 300-62-9 5826 3007
39
Morphine Approved, Investigational Phase 2 57-27-2 5288826
40
Yohimbine Approved, Investigational, Vet_approved Phase 2 146-48-5 8969
41
Ajmaline Approved, Experimental Phase 2 4360-12-7 441080
42
Cocaine Approved, Illicit Phase 2 50-36-2 446220 5760
43
Oxytocin Approved, Vet_approved Phase 2 50-56-6 439302 53477758
44
Methadone Approved, Illicit Phase 2 76-99-3 4095
45
Triamcinolone Approved, Vet_approved Phase 1, Phase 2 124-94-7 31307
46 Lorajmine Experimental Phase 2 47562-08-3
47 Renal Agents Phase 2
48 Anti-Bacterial Agents Phase 2
49 Antitubercular Agents Phase 2
50 Antibiotics, Antitubercular Phase 2

Interventional clinical trials:

(show top 50) (show all 126)
# Name Status NCT ID Phase Drugs
1 Ajmaline Utilization in the Diagnosis and Treatment of Cardiac Arrhythmias Completed NCT00702117 Phase 4 flecainide;ajmaline;procainamide
2 RNS® System Long-term Treatment (LTT) Clinical Investigation Completed NCT00572195 Phase 4
3 Injectable Versus Oral Naltrexone Treatment of Alcohol Dependence In Serious Mental Illness (SMI): A Pilot Study Completed NCT00453804 Phase 4 injectable naltrexone;oral naltrexone
4 Injectable Naltrexone Treatment of Alcohol Dependence in Serious Mental Illness (SMI): An Open Prospective Pilot Trial Completed NCT00453609 Phase 4 long-lasting injectable naltrexone
5 DAPERB 3,4-DiAminoPyridine and Electrophysiological Response in Brugada Syndrome Unknown status NCT00701077 Phase 3 3,4-Di-amino-Pyridine;placebo
6 Smoking Cessation & Opioid Dependence Treatment Integration: Does Timing Matter? Unknown status NCT02854800 Phase 2, Phase 3 varenicline
7 A Historical-controlled, Multicenter, Double-blind, Randomized Trial to Assess the Efficacy and Safety of Conversion to Lacosamide 400 mg/Day Monotherapy in Subjects With Partial-onset Seizures Completed NCT00520741 Phase 3 Lacosamide;Lacosamide
8 A Feasibility Study for a Phase 3, Randomized, Four-Week, Double-Blind, Placebo-Controlled, Crossover Trial of the Efficacy and Safety of PH94B Nasal Spray in the Acute Treatment of Social Anxiety Disorder (SAD) Completed NCT02622958 Phase 3 PH94B
9 A Prospective Trial Of Empiric Quinidine Therapy For Asymptomatic Brugada Syndrome. Active, not recruiting NCT00789165 Phase 2, Phase 3 quinidine;no therapy
10 The Efficacy of Suvorexant in the Residential Treatment of Patients With Substance Use Disorder and Insomnia: A Pilot Open Trial Enrolling by invitation NCT03412591 Phase 2, Phase 3 Suvorexant 20 mg
11 BRD 06/2-D (Quidam) "Evaluation of the Interest of Oral Hydroquinidine Administration to Treat Patients With Brugada Syndrome, High Cardiac Arrhythmic Risk and Implanted With an Implantable Cardioverter Defibrillator" Terminated NCT00927732 Phase 3 hydroquinidine;placebo (sugar)
12 The Use of D-Cycloserine to Augment Intensive Cognitive Behavioral Therapy for Pediatric Obsessive Compulsive Disorder Unknown status NCT01687140 Phase 2 D-Cycloserine;Placebo
13 Transcranial Direct Current Stimulation to Modulate Top-Down Regulation for Drug Craving in Methamphetamine Use Disorder (MUD) Completed NCT03382379 Phase 1, Phase 2
14 Development of an Anxiety Sensitivity-Based Intervention for Substance Use and Anxiety Comorbidity Completed NCT02667015 Phase 2
15 Group IPT for Women Prisoners With Comorbid Substance Use and Depression Completed NCT00606996 Phase 2
16 Home-based Behavioral Therapy (HBT): Psychosocial Intervention Project for Early Adolescents With Pre- or Early Substance Use Disorder: Phase II Completed NCT00280228 Phase 2
17 Cognitive Therapy for PTSD in Addiction Treatment Completed NCT00685451 Phase 1, Phase 2
18 Dual Diagnosis Inpatients: Telephone Monitoring RCT to Improve Outcomes Completed NCT01135420 Phase 2
19 BRAVEMIND: Advancing the Virtual Iraq/Afghanistan PTSD Exposure Therapy System for MST Completed NCT02246972 Phase 2
20 Psychophysiology of Prolonged Exposure for PTSD With/Without Yohimbine Completed NCT01031979 Phase 2 Yohimbine;Placebo
21 An Observational Study Into the Variety of Electrocardiographic Responses to an Ajmaline Provocation in a Healthy Subjects. What Are the Genetic and Structural Variations Dictating This Response ? Recruiting NCT02933437 Phase 2 Ajmaline
22 6-week Trial of Oxytocin for Co-occurring Cocaine and Opioid Use Disorders Recruiting NCT03016598 Phase 2 Intranasal oxytocin;Intranasal placebo
23 Clinical Trial of 3MDR to Treat PTSD With mTBI, With and Without Eye Movement (3MDR) Recruiting NCT03796936 Phase 2
24 Frontoparietal Synchronization to Modulate Drug Craving in Opioid Use Disorder: A Randomized Experimental Trial Recruiting NCT03907644 Phase 1, Phase 2
25 Low-Cost, Virtual Reality System to Increase Access to Exposure Therapy for Anxiety and Obsessive Compulsive Disorders Not yet recruiting NCT03636022 Phase 2
26 Oxytocin Suppresses Substance Use Disorders Associated With Chronic Stress Completed NCT02058251 Phase 1 Oxytocin;Placebo
27 Recovery Group for Women With Substance Use Disorders - Stage I Completed NCT00230100 Phase 1
28 Molecular Genetic Screening and Identification of Congenital Arrhythmogenic Diseases Unknown status NCT00221832
29 Brain Stimulation for Epilepsy Long Term Follow-up Completed NCT00736424
30 AnalyST & Brugada Syndrome - Feasibility Study Completed NCT02052765
31 Diagnostic Value and Safety of Flecainide Infusion Test in Brugada Syndrome Completed NCT02302274 flecainide iv
32 Pediatric Seizure Alarm: A Pilot Study to Establish Efficacy Parameters Completed NCT01855178
33 Evaluation of Subcutaneous Implantable Cardiac Defibrillator in Brugada Patients Completed NCT02344277
34 Electrical Substrate Elimination in Brugada Syndrome. Results in 135 Consecutive Patients Completed NCT02641431 Ajmaline
35 Metabolic Consequences of CPT1A Deficiency in Alaska Native Children Completed NCT00653666
36 Efficacy of Fluoxetine in Reducing Ictal Hypoventilation in Patients With Partial Epilepsy Completed NCT00986310 Fluoxetine;Placebo
37 Epidemiology of Long QTand Asian Sudden Death in Sleep Completed NCT00005367
38 ST-segment Elevation With Procainamide as an ECG Endophenotype of AF Completed NCT01205529 Procainamide
39 Mindfulness-Based Recovery in Veterans With Substance Use Disorders Completed NCT02326363
40 Onsite Versus Referral Models of Primary Care for Substance Abusing Patients Completed NCT00057096
41 Integrated Treatment of Operation Enduring Freedom/Operation Iraqi Freedom Veterans With Post-traumatic Stress Disorder and Substance Use Disorders Completed NCT01338506
42 Safety of Local Dental Anesthesia in Patients With Cardiac Channelopathies Completed NCT03182777
43 Psychosocial Pain Management During Addictions Treatment to Improve Outcomes Completed NCT01372267
44 Appropriated Bowel Preparation Before Exploratory Laparotomy in Gynecologic Surgery Completed NCT02263443
45 Patient-Centered Trauma Treatment for PTSD and Substance Abuse: Is it an Effective Treatment Option? Completed NCT02081417
46 Specialized Community Disease Management to Reduce Substance Use and Hospital Readmissions Completed NCT02059005
47 Sodium Channel Splicing in Obstructive Sleep Apnea (SOCS-OSA) Completed NCT02725632
48 Substance Abuse Self-Help Group Referral: Outcome and Services Use Completed NCT00105729
49 Transcranial Random Noise Stimulation in Anterior Cingulate Cortex Reduces Craving Over Dual Pathology Patients Completed NCT01876524
50 Age-17 Follow-up of Home Visiting Intervention Completed NCT00708695

Search NIH Clinical Center for Brugada Syndrome

Cochrane evidence based reviews: brugada syndrome

Genetic Tests for Brugada Syndrome

Genetic tests related to Brugada Syndrome:

# Genetic test Affiliating Genes
1 Brugada Syndrome 29
2 Sudden Unexplained Death 29

Anatomical Context for Brugada Syndrome

MalaCards organs/tissues related to Brugada Syndrome:

41
Heart, Testes, Eye, Cortex, Brain, Skin, Smooth Muscle

Publications for Brugada Syndrome

Articles related to Brugada Syndrome:

(show top 50) (show all 2933)
# Title Authors PMID Year
1
Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome. 9 38 4 71
11823453 2002
2
A single Na(+) channel mutation causing both long-QT and Brugada syndromes. 9 38 4 71
10590249 1999
3
Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome. 38 4 71
17967976 2007
4
Lidocaine-induced Brugada syndrome phenotype linked to a novel double mutation in the cardiac sodium channel. 9 38 71
18599870 2008
5
Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans. 9 38 71
18464934 2008
6
Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias. 9 38 71
17967977 2007
7
Nav1.5 E1053K mutation causing Brugada syndrome blocks binding to ankyrin-G and expression of Nav1.5 on the surface of cardiomyocytes. 9 38 71
15579534 2004
8
Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing. 9 38 71
15851227 2004
9
Genetic analysis of the cardiac sodium channel gene SCN5A in Koreans with Brugada syndrome. 9 38 71
15338453 2004
10
Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). 4 71
14523039 2003
11
Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family. 9 38 71
11748104 2001
12
Inherited Brugada and long QT-3 syndrome mutations of a single residue of the cardiac sodium channel confer distinct channel and clinical phenotypes. 9 38 71
11410597 2001
13
Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing. 38 71
22840528 2012
14
Novel mutations in the KCND3-encoded Kv4.3 K+ channel associated with autopsy-negative sudden unexplained death. 38 71
22457051 2012
15
Transient outward current (I(to)) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome. 38 71
21349352 2011
16
Genetic modulation of brugada syndrome by a common polymorphism. 9 38 4
19549036 2009
17
A mutation in the beta 3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype. 38 71
20031595 2009
18
Accelerated inactivation of the L-type calcium current due to a mutation in CACNB2b underlies Brugada syndrome. 38 71
19358333 2009
19
Role of HCN4 channel in preventing ventricular arrhythmia. 38 71
19165230 2009
20
Functional effects of KCNE3 mutation and its role in the development of Brugada syndrome. 38 71
19122847 2008
21
The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome. 38 71
18451998 2008
22
Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. 38 71
18378609 2008
23
Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death. 38 71
17224476 2007
24
A common SCN5A polymorphism attenuates a severe cardiac phenotype caused by a nonsense SCN5A mutation in a Chinese family with an inherited cardiac conduction defect. 38 71
16707561 2006
25
SCN5A polymorphism restores trafficking of a Brugada syndrome mutation on a separate gene. 9 38 4
16864729 2006
26
Monomorphic ventricular tachycardia due to Brugada syndrome successfully treated by hydroquinidine therapy in a 3-year-old child. 9 38 4
16426410 2006
27
High risk for bradyarrhythmic complications in patients with Brugada syndrome caused by SCN5A gene mutations. 9 38 4
16325048 2005
28
A mutation in the human cardiac sodium channel (E161K) contributes to sick sinus syndrome, conduction disease and Brugada syndrome in two families. 9 38 4
15910881 2005
29
Brugada Syndrome 38 71
20301690 2005
30
Value of electrocardiographic parameters and ajmaline test in the diagnosis of Brugada syndrome caused by SCN5A mutations. 9 38 4
15520322 2004
31
SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia. 9 38 4
15466643 2004
32
Phenotypic characterization of a large European family with Brugada syndrome displaying a sudden unexpected death syndrome mutation in SCN5A:. 9 38 4
15028074 2004
33
A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation. 9 38 4
12569159 2003
34
Clinical and molecular heterogeneity in the Brugada syndrome: a novel gene locus on chromosome 3. 38 71
11839626 2002
35
Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block. 9 38 4
11804990 2002
36
Molecular biology and cellular mechanisms of Brugada and long QT syndromes in infants and young children. 9 38 4
11781953 2001
37
The elusive link between LQT3 and Brugada syndrome: the role of flecainide challenge. 9 38 4
10961955 2000
38
Two distinct congenital arrhythmias evoked by a multidysfunctional Na(+) channel. 9 38 4
10807877 2000
39
Cardiac Na(+) channel dysfunction in Brugada syndrome is aggravated by beta(1)-subunit. 38 71
10618304 2000
40
Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome. 38 71
10690282 1999
41
Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent. 38 71
10532948 1999
42
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 71
27854360 2017
43
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 71
25356965 2015
44
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 71
23788249 2013
45
Brugada syndrome 2012. 38 4
22789973 2012
46
"Benign" early repolarization versus malignant early abnormalities: clinical-electrocardiographic distinction and genetic basis. 38 4
22825893 2012
47
Electrocardiographic characteristics and SCN5A mutations in idiopathic ventricular fibrillation associated with early repolarization. 38 4
22028457 2011
48
Brugada syndrome caused by a large deletion in SCN5A only detected by multiplex ligation-dependent probe amplification. 38 4
21288276 2011
49
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). 71
21810866 2011
50
KCNE5 (KCNE1L) variants are novel modulators of Brugada syndrome and idiopathic ventricular fibrillation. 38 4
21493962 2011

Variations for Brugada Syndrome

ClinVar genetic disease variations for Brugada Syndrome:

6 (show top 50) (show all 1970)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SCN5A NC_000003.11: g.(?_38674526)_(38674850_?)del deletion Pathogenic 3:38674526-38674850 3:38633035-38633359
2 SCN5A NC_000003.11: g.(?_38655234)_(38663980_?)del deletion Pathogenic 3:38655234-38663980 3:38613743-38622489
3 SCN5A NM_000335.4(SCN5A): c.2636G> A (p.Trp879Ter) single nucleotide variant Pathogenic rs1060501114 3:38627333-38627333 3:38585842-38585842
4 SCN5A NM_000335.4(SCN5A): c.2933G> A (p.Trp978Ter) single nucleotide variant Pathogenic rs1060501135 3:38622717-38622717 3:38581226-38581226
5 SCN5A NM_000335.4(SCN5A): c.104del (p.Gly35fs) deletion Pathogenic rs1060501142 3:38674695-38674695 3:38633204-38633204
6 SCN5A NM_000335.4(SCN5A): c.5425G> T (p.Glu1809Ter) single nucleotide variant Pathogenic rs1060501145 3:38592435-38592435 3:38550944-38550944
7 SCN5A NM_000335.4(SCN5A): c.3282G> A (p.Trp1094Ter) single nucleotide variant Pathogenic rs759924541 3:38620930-38620930 3:38579439-38579439
8 SCN5A NM_000335.4(SCN5A): c.904G> T (p.Glu302Ter) single nucleotide variant Pathogenic rs1060501136 3:38651255-38651255 3:38609764-38609764
9 SCN5A NM_000335.4(SCN5A): c.100_101CG[1] (p.Gly35fs) short repeat Pathogenic rs1131691708 3:38674696-38674697 3:38633205-38633206
10 SCN5A NM_000335.4(SCN5A): c.3081del (p.Phe1028fs) deletion Pathogenic rs1553699663 3:38622569-38622569 3:38581078-38581078
11 SCN5A NM_000335.4(SCN5A): c.1121G> A (p.Trp374Ter) single nucleotide variant Pathogenic rs1553704898 3:38648179-38648179 3:38606688-38606688
12 SCN5A NM_000335.4(SCN5A): c.204T> A (p.Tyr68Ter) single nucleotide variant Pathogenic rs1553607561 3:38674595-38674595 3:38633104-38633104
13 SCN5A NM_000335.4(SCN5A): c.3873del (p.Phe1292fs) deletion Pathogenic rs1553695847 3:38603993-38603993 3:38562502-38562502
14 SCN5A NM_000335.4(SCN5A): c.2466G> A (p.Trp822Ter) single nucleotide variant Pathogenic rs1553700699 3:38627503-38627503 3:38586012-38586012
15 SCN5A NC_000003.11: g.(?_38591792)_(38835521_?)del deletion Pathogenic 3:38591792-38835521 3:38550301-38794030
16 SCN5A NM_000335.4(SCN5A): c.5381A> G (p.Tyr1794Cys) single nucleotide variant Pathogenic rs137854614 3:38592479-38592479 3:38550988-38550988
17 SCN5A NM_000335.4(SCN5A): c.4865G> A (p.Arg1622Gln) single nucleotide variant Pathogenic rs137854600 3:38592995-38592995 3:38551504-38551504
18 SCN5A NM_000335.4(SCN5A): c.1100G> A (p.Arg367His) single nucleotide variant Pathogenic rs28937318 3:38648200-38648200 3:38606709-38606709
19 SCN5A NM_000335.4(SCN5A): c.4928G> A (p.Arg1643His) single nucleotide variant Pathogenic rs28937316 3:38592932-38592932 3:38551441-38551441
20 SCN5A NM_000335.4(SCN5A): c.4219G> A (p.Gly1407Arg) single nucleotide variant Pathogenic rs137854612 3:38601661-38601661 3:38560170-38560170
21 SCN5A NM_000335.4(SCN5A): c.3820G> A (p.Asp1274Asn) single nucleotide variant Pathogenic rs137854618 3:38607917-38607917 3:38566426-38566426
22 SCN5A NM_000335.4(SCN5A): c.5380T> C (p.Tyr1794His) single nucleotide variant Pathogenic rs137854615 3:38592480-38592480 3:38550989-38550989
23 CACNA1C NM_000719.7(CACNA1C): c.116C> T (p.Ala39Val) single nucleotide variant Pathogenic rs121912776 12:2224456-2224456 12:2115290-2115290
24 SCN5A NM_000335.4(SCN5A): c.665G> A (p.Arg222Gln) single nucleotide variant Pathogenic rs45546039 3:38655272-38655272 3:38613781-38613781
25 SCN5A NM_000335.4(SCN5A): c.1231G> A (p.Val411Met) single nucleotide variant Pathogenic rs72549410 3:38647549-38647549 3:38606058-38606058
26 SCN5A NM_000335.4(SCN5A): c.311G> A (p.Arg104Gln) single nucleotide variant Pathogenic rs199473554 3:38671883-38671883 3:38630392-38630392
27 SCN5A NM_000335.4(SCN5A): c.362G> A (p.Arg121Gln) single nucleotide variant Pathogenic rs199473058 3:38671832-38671832 3:38630341-38630341
28 SCN5A NM_000335.4(SCN5A): c.4214G> A (p.Gly1405Glu) single nucleotide variant Pathogenic rs199473609 3:38601666-38601666 3:38560175-38560175
29 SCN5A NM_000335.4(SCN5A): c.3992C> T (p.Pro1331Leu) single nucleotide variant Pathogenic rs199473225 3:38601888-38601888 3:38560397-38560397
30 SCN5A NM_000335.4(SCN5A): c.481G> A (p.Glu161Lys) single nucleotide variant Pathogenic rs199473062 3:38663892-38663892 3:38622401-38622401
31 SCN5A NM_000335.4(SCN5A): c.5224G> A (p.Gly1742Arg) single nucleotide variant Pathogenic rs199473305 3:38592636-38592636 3:38551145-38551145
32 SCN5A NM_000335.4(SCN5A): c.5299A> G (p.Ile1767Val) single nucleotide variant Pathogenic rs199473311 3:38592561-38592561 3:38551070-38551070
33 SCN5A NM_000335.4(SCN5A): c.845G> A (p.Arg282His) single nucleotide variant Pathogenic rs199473083 3:38651314-38651314 3:38609823-38609823
34 SCN5A NM_000335.4(SCN5A): c.1936del (p.Gln646fs) deletion Pathogenic rs727505158 3:38640496-38640496 3:38599005-38599005
35 SCN5A NM_000335.4(SCN5A): c.3992del (p.Pro1331fs) deletion Pathogenic rs727504801 3:38601888-38601888 3:38560397-38560397
36 SCN5A NM_000335.4(SCN5A): c.2548_2549GT[3] (p.Phe851fs) short repeat Pathogenic rs397514450 3:38627418-38627419 3:38585927-38585928
37 SCN5A NM_000335.4(SCN5A): c.2582_2583del (p.Phe861fs) deletion Pathogenic rs794728914 3:38627386-38627387 3:38585895-38585896
38 SCN5A NM_000335.4(SCN5A): c.1753del (p.His585fs) deletion Pathogenic rs794728910 3:38645340-38645340 3:38603849-38603849
39 SCN5A NM_000335.4(SCN5A): c.664C> T (p.Arg222Ter) single nucleotide variant Pathogenic rs794728849 3:38655273-38655273 3:38613782-38613782
40 SCN5A NM_000335.4(SCN5A): c.4842_4844delinsGTA (p.Tyr1614_Phe1615delinsTer) indel Pathogenic rs863224533 3:38593016-38593018 3:38551525-38551527
41 SCN5A NM_000335.4(SCN5A): c.4179C> G (p.Tyr1393Ter) single nucleotide variant Pathogenic rs863224532 3:38601701-38601701 3:38560210-38560210
42 SCN5A NM_000335.4(SCN5A): c.4769G> A (p.Trp1590Ter) single nucleotide variant Pathogenic rs863225273 3:38595811-38595811 3:38554320-38554320
43 SCN5A NM_000335.4(SCN5A): c.3142_3154delinsTCTGACTGTGT (p.Pro1048fs) indel Pathogenic rs878855287 3:38622496-38622508 3:38581005-38581017
44 SCN5A NM_000335.4(SCN5A): c.4882C> T (p.Arg1628Ter) single nucleotide variant Pathogenic rs199473284 3:38592978-38592978 3:38551487-38551487
45 SCN5A NM_000335.4(SCN5A): c.5381_5382del (p.Phe1793_Tyr1794insTer) deletion Pathogenic 3:38592478-38592479 3:38550987-38550988
46 SCN5A NM_000335.4(SCN5A): c.4654del (p.Ser1552fs) deletion Pathogenic 3:38595926-38595926 3:38554435-38554435
47 SCN5A NM_000335.4(SCN5A): c.5383G> T (p.Glu1795Ter) single nucleotide variant Pathogenic 3:38592477-38592477 3:38550986-38550986
48 SCN5A NM_000335.4(SCN5A): c.5354_5357TGAG[1] (p.Ser1786fs) short repeat Pathogenic 3:38592499-38592502 3:38551008-38551011
49 SCN5A NM_000335.4(SCN5A): c.5276T> G (p.Phe1759Cys) single nucleotide variant Pathogenic 3:38592584-38592584 3:38551093-38551093
50 SCN5A NM_000335.4(SCN5A): c.3570G> A (p.Trp1190Ter) single nucleotide variant Pathogenic 3:38616881-38616881 3:38575390-38575390

Expression for Brugada Syndrome

Search GEO for disease gene expression data for Brugada Syndrome.

Pathways for Brugada Syndrome

Pathways related to Brugada Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010
2 Calcium signaling pathway hsa04020
3 Cardiac muscle contraction hsa04260
4 Vascular smooth muscle contraction hsa04270
5 Hypertrophic cardiomyopathy (HCM) hsa05410
6 Arrhythmogenic right ventricular cardiomyopathy (ARVC) hsa05412
7 Dilated cardiomyopathy (DCM) hsa05414

Pathways related to Brugada Syndrome according to GeneCards Suite gene sharing:

(show all 24)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.44 SCN5A SCN3B SCN2B SCN1B SCN10A CALM2
2
Show member pathways
13.39 SCN5A SCN3B SCN2B SCN1B SCN10A PKP2
3
Show member pathways
12.89 SCN5A SCN3B SCN2B SCN1B SCN10A CALM2
4
Show member pathways
12.86 KCNJ8 KCNH2 KCND3 HCN4 CALM2 CACNB2
5
Show member pathways
12.77 TRPM4 SCN5A SCN1B CALM2 CACNB2 CACNA2D1
6
Show member pathways
12.58 SCN5A SCN3B SCN2B SCN1B SCN10A CACNA2D1
7
Show member pathways
12.5 CALM2 CACNB2 CACNA2D1 CACNA1C
8 12.45 SCN5A SCN2B SCN1B SCN10A
9 12.22 KCNJ8 KCNH2 KCNE3 KCND3 CALM2 CACNB2
10
Show member pathways
12.2 CALM2 CACNB2 CACNA2D1 CACNA1C
11
Show member pathways
12.2 SCN5A SCN3B SCN2B SCN1B SCN10A KCNH2
12 12.1 SCN5A SCN3B KCNJ8 KCNH2 GPD1L
13
Show member pathways
12.08 PKP2 CACNB2 CACNA2D1 CACNA1C
14
Show member pathways
12.05 KCNJ8 KCNH2 KCND3 HCN4 ABCC9
15
Show member pathways
11.93 SCN5A SCN3B SCN2B SCN1B SCN10A
16
Show member pathways
11.91 CACNB2 CACNA2D1 CACNA1C
17
Show member pathways
11.77 SCN5A SCN3B SCN2B SCN1B SCN10A KCNE5
18 11.69 CACNB2 CACNA2D1 CACNA1C
19 11.52 SCN5A SCN3B SCN2B SCN1B KCNJ8 KCNH2
20 11.51 CACNB2 CACNA2D1 CACNA1C
21 11.46 CALM2 CACNB2 CACNA2D1 CACNA1C
22 11.41 CACNB2 CACNA2D1 CACNA1C
23 11.28 CALM2 CACNB2 CACNA2D1 CACNA1C
24 11.13 SCN5A SCN3B SCN2B SCN1B SCN10A

GO Terms for Brugada Syndrome

Cellular components related to Brugada Syndrome according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 voltage-gated potassium channel complex GO:0008076 9.73 KCNJ8 KCNH2 KCNE5 KCNE3 KCND3 CALM2
2 Z disc GO:0030018 9.7 SCN5A SCN3B CACNA1C
3 sarcolemma GO:0042383 9.7 SLMAP SCN5A KCNJ8 KCND3 CACNB2 CACNA1C
4 intercalated disc GO:0014704 9.67 SCN5A SCN1B PKP2
5 T-tubule GO:0030315 9.65 SCN5A SCN1B CACNA2D1
6 voltage-gated calcium channel complex GO:0005891 9.61 CACNB2 CACNA2D1 CACNA1C
7 plasma membrane GO:0005886 9.6 TRPM4 SLMAP SCN5A SCN3B SCN1B SCN10A
8 L-type voltage-gated calcium channel complex GO:1990454 9.58 CACNB2 CACNA2D1 CACNA1C
9 sodium channel complex GO:0034706 9.51 TRPM4 SCN1B
10 inward rectifying potassium channel GO:0008282 9.46 KCNJ8 ABCC9
11 voltage-gated sodium channel complex GO:0001518 9.35 SCN5A SCN3B SCN2B SCN1B SCN10A
12 membrane GO:0016020 10.32 TRPM4 SLMAP SCN5A SCN3B SCN2B SCN1B
13 integral component of membrane GO:0016021 10.25 TRPM4 SLMAP SCN5A SCN3B SCN2B SCN1B

Biological processes related to Brugada Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 59)
# Name GO ID Score Top Affiliating Genes
1 protein localization to plasma membrane GO:0072659 9.99 SLMAP SCN3B PKP2 CACNB2
2 calcium ion transmembrane transport GO:0070588 9.98 TRPM4 CACNB2 CACNA2D1 CACNA1C
3 potassium ion transmembrane transport GO:0071805 9.97 KCNJ8 KCNH2 KCNE3 KCND3 HCN4
4 regulation of ion transmembrane transport GO:0034765 9.97 SCN5A SCN3B SCN2B SCN1B SCN10A KCNJ8
5 cardiac muscle contraction GO:0060048 9.95 SCN5A SCN3B SCN2B SCN1B KCNH2 KCNE5
6 regulation of heart rate GO:0002027 9.93 SCN5A SCN10A HCN4 GPD1L CALM2
7 regulation of membrane potential GO:0042391 9.9 TRPM4 KCNH2 HCN4
8 regulation of sodium ion transmembrane transporter activity GO:2000649 9.9 SCN3B SCN2B SCN1B GPD1L
9 positive regulation of sodium ion transport GO:0010765 9.89 SCN5A SCN3B SCN1B PKP2 GPD1L
10 membrane depolarization during action potential GO:0086010 9.88 SCN5A SCN3B SCN10A KCNH2
11 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.88 SCN5A SCN1B KCNH2 KCNE5 KCNE3 CACNA2D1
12 ventricular cardiac muscle cell action potential GO:0086005 9.87 SCN5A SCN3B PKP2 KCNH2 KCNE5 KCNE3
13 potassium ion import across plasma membrane GO:1990573 9.86 KCNJ8 HCN4 ABCC9
14 potassium ion export across plasma membrane GO:0097623 9.86 KCNH2 KCNE5 KCNE3 KCND3
15 cardiac conduction GO:0061337 9.85 TRPM4 SCN3B SCN1B CACNA1C
16 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.85 KCNJ8 KCNH2 KCNE5 KCNE3 KCND3
17 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.85 SCN5A SCN3B SCN2B SCN1B HCN4 CACNA1C
18 membrane depolarization GO:0051899 9.84 SCN5A SCN3B SCN1B
19 regulation of cardiac muscle contraction GO:0055117 9.84 SCN10A HCN4 CALM2
20 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.83 TRPM4 PKP2 CACNA1C
21 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.83 SCN5A SCN3B SCN2B SCN1B SCN10A
22 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.82 KCNH2 KCNE5 KCND3
23 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.82 SCN5A SCN3B GPD1L
24 membrane repolarization during action potential GO:0086011 9.81 KCNH2 KCNE5 KCNE3
25 atrial cardiac muscle cell action potential GO:0086014 9.81 SCN5A SCN3B KCNE5
26 membrane depolarization during AV node cell action potential GO:0086045 9.81 TRPM4 SCN5A CACNB2 CACNA1C
27 SA node cell action potential GO:0086015 9.8 SCN5A SCN3B HCN4
28 cardiac muscle cell action potential involved in contraction GO:0086002 9.8 SCN5A SCN3B SCN2B SCN1B PKP2 CACNA2D1
29 regulation of heart rate by cardiac conduction GO:0086091 9.8 TRPM4 SCN5A SCN3B SCN2B SCN1B PKP2
30 membrane depolarization during Purkinje myocyte cell action potential GO:0086047 9.79 TRPM4 SCN5A SCN1B
31 membrane depolarization during bundle of His cell action potential GO:0086048 9.79 TRPM4 SCN5A CACNA2D1
32 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.78 SCN5A CACNB2 CACNA1C
33 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.73 CALM2 CACNA1C
34 positive regulation of heart rate GO:0010460 9.72 TRPM4 SCN3B
35 sodium ion import across plasma membrane GO:0098719 9.72 TRPM4 HCN4
36 positive regulation of potassium ion transmembrane transport GO:1901381 9.72 KCNH2 KCNE5
37 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.72 KCNE5 KCNE3
38 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.71 PKP2 CACNA1C
39 calcium ion transport into cytosol GO:0060402 9.71 CACNA2D1 CACNA1C
40 negative regulation of potassium ion transmembrane transport GO:1901380 9.71 KCNH2 KCNE5
41 membrane repolarization GO:0086009 9.71 KCNH2 KCND3
42 regulation of sodium ion transmembrane transport GO:1902305 9.71 SLMAP SCN5A
43 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.7 SCN5A KCNE5
44 positive regulation of high voltage-gated calcium channel activity GO:1901843 9.7 CACNB2 CACNA2D1
45 membrane depolarization during SA node cell action potential GO:0086046 9.7 SCN5A HCN4
46 response to pyrethroid GO:0046684 9.69 SCN2B SCN1B
47 AV node cell action potential GO:0086016 9.69 SCN5A SCN10A
48 calcium ion transmembrane transport via high voltage-gated calcium channel GO:0061577 9.68 CACNA2D1 CACNA1C
49 negative regulation of potassium ion export across plasma membrane GO:1903765 9.67 KCNH2 KCNE3
50 bundle of His cell action potential GO:0086043 9.67 SCN5A SCN10A

Molecular functions related to Brugada Syndrome according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.91 TRPM4 SCN5A SCN10A KCNH2 HCN4 CACNA1C
2 potassium channel activity GO:0005267 9.89 KCNH2 KCNE3 KCND3 HCN4 ABCC9
3 voltage-gated potassium channel activity GO:0005249 9.85 KCNH2 KCNE5 KCNE3 KCND3 HCN4
4 calcium channel activity GO:0005262 9.83 TRPM4 CACNB2 CACNA2D1 CACNA1C
5 sodium channel regulator activity GO:0017080 9.8 SCN3B SCN2B SCN1B PKP2 GPD1L
6 voltage-gated calcium channel activity GO:0005245 9.75 CACNB2 CACNA2D1 CACNA1C
7 potassium channel regulator activity GO:0015459 9.74 KCNE5 KCNE3 ABCC9
8 voltage-gated sodium channel activity GO:0005248 9.73 SCN5A SCN3B SCN2B SCN1B SCN10A HCN4
9 delayed rectifier potassium channel activity GO:0005251 9.72 KCNH2 KCNE5 KCNE3
10 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.72 KCNJ8 KCNH2 KCNE5 KCNE3 KCND3
11 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.69 KCNH2 KCNE5 KCND3
12 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.67 SCN5A SCN3B SCN2B SCN1B
13 voltage-gated calcium channel activity involved in cardiac muscle cell action potential GO:0086007 9.65 CACNB2 CACNA2D1 CACNA1C
14 voltage-gated ion channel activity GO:0005244 9.65 SCN5A SCN3B SCN2B SCN1B SCN10A KCNJ8
15 sodium channel activity GO:0005272 9.63 SCN5A SCN3B SCN2B SCN1B SCN10A HCN4
16 inward rectifier potassium channel activity GO:0005242 9.6 KCNJ8 KCNH2
17 high voltage-gated calcium channel activity GO:0008331 9.59 CACNB2 CACNA1C
18 sodium channel inhibitor activity GO:0019871 9.58 SCN3B SCN1B
19 voltage-gated calcium channel activity involved in AV node cell action potential GO:0086056 9.56 CACNB2 CACNA1C
20 voltage-gated sodium channel activity involved in Purkinje myocyte action potential GO:0086062 9.54 SCN5A SCN1B
21 ion channel binding GO:0044325 9.36 SCN5A SCN3B SCN1B SCN10A PKP2 KCNE5

Sources for Brugada Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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
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44 MeSH
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51 NDF-RT
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
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73 UMLS via Orphanet
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