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SCD
MCID: CRD132
MIFTS: 63

Cardiac Conduction Defect (SCD)

Categories: Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Cardiac Conduction Defect

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MalaCards integrated aliases for Cardiac Conduction Defect:

Name: Cardiac Conduction Defect 58 41 17
Sudden Cardiac Death 76 30 6 74
Cardiac Conduction Defect, Susceptibility to 58 13 6
Conduction Disorder of the Heart 74
Death, Sudden, Cardiac 45
Death Sudden Cardiac 56
Scd 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
cardiac conduction defect:
Clinical modifier sudden death
Inheritance autosomal dominant inheritance


Classifications:

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


Sources

Summaries for Cardiac Conduction Defect

About this section
UniProtKB/Swiss-Prot : 76 Sudden cardiac death: Unexpected rapid death due to cardiovascular collapse in a short time period, generally within one hour of initial symptoms. It is usually caused by the worsening of existing heart diseases. The sudden onset of symptoms, such as chest pain and cardiac arrhythmias, particularly ventricular tachycardia, can lead to the loss of consciousness and cardiac arrest followed by biological death.

MalaCards based summary : Cardiac Conduction Defect, also known as sudden cardiac death, is related to progressive familial heart block and short qt syndrome, and has symptoms including chest pain An important gene associated with Cardiac Conduction Defect is AKAP10 (A-Kinase Anchoring Protein 10), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Vascular smooth muscle contraction. The drugs Methotrexate and leucovorin have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and kidney, and related phenotypes are arrhythmia and syncope

Description from OMIM: 115080
Sources

Related Diseases for Cardiac Conduction Defect

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Diseases in the Cardiac Conduction Defect family:

Familial Progressive Cardiac Conduction Defect

Diseases related to Cardiac Conduction Defect via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 355)
# Related Disease Score Top Affiliating Genes
1 progressive familial heart block 33.0 DSP SCN5A
2 short qt syndrome 32.1 KCNH2 KCNQ1
3 long qt syndrome 3 31.9 KCNH2 KCNQ1 SCN5A
4 andersen cardiodysrhythmic periodic paralysis 31.6 KCNH2 KCNQ1 RYR2 SCN5A
5 long qt syndrome 6 31.6 KCNH2 KCNQ1 RYR2 SCN5A
6 long qt syndrome 13 31.5 KCNH2 KCNQ1 SCN5A
7 long qt syndrome 12 31.5 KCNH2 KCNQ1 SCN5A
8 long qt syndrome 5 31.1 KCNH2 KCNQ1 RYR2 SCN5A
9 long qt syndrome 2 31.1 KCNH2 KCNQ1 RYR2 SCN5A
10 long qt syndrome 1 30.8 DSP KCNH2 KCNQ1 RYR2 SCN5A
11 catecholaminergic polymorphic ventricular tachycardia 30.7 DSP KCNH2 MYBPC3 RYR1 RYR2 SCN5A
12 arrhythmogenic right ventricular cardiomyopathy 30.4 DSP KCNH2 LMNA MYH7 PLN RYR1
13 brugada syndrome 1 30.1 KCNH2 SCN5A
14 sick sinus syndrome 30.0 LMNA SCN5A
15 ventricular fibrillation, paroxysmal familial, 1 30.0 DSP KCNH2 KCNQ1 RYR2 SCN5A
16 muscle disorders 29.7 RYR1 RYR2
17 atrioventricular block 29.7 KCNH2 KCNQ1 LMNA SCN5A
18 cardiac arrhythmia 29.5 KCNH2 KCNQ1 RYR2 SCN5A
19 syncope 29.5 KCNH2 KCNQ1 SCN5A
20 atrial fibrillation 29.5 KCNH2 KCNQ1 MYBPC3 RYR2 SCN5A
21 cardiomyopathy, dilated, 1e 29.3 DSP LMNA MYH7 SCN5A
22 brugada syndrome 29.2 KCNH2 KCNQ1 MYBPC3 SCN5A
23 sudden infant death syndrome 29.1 KCNH2 KCNQ1 RYR2 SCN5A
24 hypertrophic cardiomyopathy 28.7 DSP LMNA MYBPC3 MYH7 PLN RYR2
25 long qt syndrome 28.5 KCNH2 KCNQ1 MYBPC3 RYR2 SCN5A
26 atrial standstill 1 28.4 DSP LMNA MYBPC3 MYH7 PLN SCN5A
27 cardiac arrest 28.2 DSP KCNH2 KCNQ1 MYBPC3 MYH7 PLN
28 left ventricular noncompaction 27.8 DSP KCNQ1 LMNA MYBPC3 MYH7 RYR2
29 heart disease 27.5 DSP KCNH2 KCNQ1 LMNA MYBPC3 MYH7
30 dilated cardiomyopathy 27.2 DSP KCNH2 KCNQ1 LMNA MYBPC3 MYH7
31 microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome 12.6
32 familial progressive cardiac conduction defect 12.6
33 sickle cell disease 12.3
34 progressive familial heart block, type ia 12.0
35 brugada syndrome 5 11.8
36 schnyder corneal dystrophy 11.7
37 ehlers-danlos syndrome, spondylodysplastic type, 3 11.7
38 cardiomyopathy, familial hypertrophic, 1 11.6
39 cardiac arrhythmia, ankyrin-b-related 11.5
40 kearns-sayre syndrome 11.5
41 peripartum cardiomyopathy 11.4
42 sickle cell anemia 11.3
43 qt interval, variation in 11.3
44 diabetes mellitus, noninsulin-dependent 11.2
45 fanconi anemia, complementation group d2 11.2
46 body mass index quantitative trait locus 11 11.2
47 lipodystrophy, congenital generalized, type 3 11.2
48 lipodystrophy, congenital generalized, type 4 11.2
49 reye syndrome 11.2
50 cardiomyopathy, familial hypertrophic, 6 11.2

Graphical network of the top 20 diseases related to Cardiac Conduction Defect:



Diseases related to Cardiac Conduction Defect
Sources

Symptoms & Phenotypes for Cardiac Conduction Defect

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Human phenotypes related to Cardiac Conduction Defect:

33
# Description HPO Frequency HPO Source Accession
1 arrhythmia 33 HP:0011675
2 syncope 33 HP:0001279

Symptoms via clinical synopsis from OMIM:

58
Cardiac:
arrhythmia
progressive atrial conduction defect

Neuro:
syncope

Misc:
sudden death

Lab:
fatty and mononuclear cell infiltration in the atrioventricular conduction system and the main left bundle branch

Clinical features from OMIM:

115080

UMLS symptoms related to Cardiac Conduction Defect:


chest pain

MGI Mouse Phenotypes related to Cardiac Conduction Defect:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.96 AKAP10 DSP KCNH2 KCNQ1 LMNA MYBPC3
2 growth/size/body region MP:0005378 9.56 AKAP10 DSP KCNH2 KCNQ1 LMNA RYR1
3 craniofacial MP:0005382 9.55 AKAP10 DSP KCNH2 LMNA RYR1
4 muscle MP:0005369 9.28 DSP KCNH2 KCNQ1 LMNA MYBPC3 MYH7
Sources

Drugs & Therapeutics for Cardiac Conduction Defect

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Drugs for Cardiac Conduction Defect (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 566)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methotrexate Approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 1959-05-2, 59-05-2 126941
2
leucovorin Approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 58-05-9 143 6006
3
Propafenone Approved Phase 4,Not Applicable 54063-53-5 4932
4
Sotalol Approved Phase 4,Phase 3,Not Applicable 959-24-0, 3930-20-9 5253
5
Amiodarone Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 1951-25-3 2157
6
Ranolazine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 95635-55-5, 142387-99-3 56959
7
Acarbose Approved, Investigational Phase 4 56180-94-0 441184
8
Spironolactone Approved Phase 4,Phase 2,Not Applicable 1952-01-7, 52-01-7 5833
9
Hydrochlorothiazide Approved, Vet_approved Phase 4,Phase 3 58-93-5 3639
10
Fosinopril Approved Phase 4 98048-97-6 55891
11
Apixaban Approved Phase 4 503612-47-3 10182969
12
Rivaroxaban Approved Phase 4 366789-02-8
13
Lidocaine Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 137-58-6 3676
14
Verapamil Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 52-53-9 2520
15
Metoprolol Approved, Investigational Phase 4,Phase 2,Phase 3,Not Applicable 37350-58-6, 51384-51-1 4171
16
Adenosine Approved, Investigational Phase 4,Phase 2,Phase 1,Not Applicable 58-61-7 60961
17
Racepinephrine Approved Phase 4,Phase 2,Not Applicable 329-65-7 838
18
Epinephrine Approved, Vet_approved Phase 4,Phase 2,Not Applicable 51-43-4 5816
19
Ethanol Approved Phase 4,Phase 2,Phase 3,Not Applicable 64-17-5 702
20
Angiotensin II Approved, Investigational Phase 4,Phase 1,Not Applicable,Early Phase 1 11128-99-7, 68521-88-0, 4474-91-3 172198
21
Miconazole Approved, Investigational, Vet_approved Phase 4,Not Applicable 22916-47-8 4189
22
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
23
nivolumab Approved Phase 4 946414-94-4
24
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
25 Grape Approved Phase 4
26
Aspirin Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 50-78-2 2244
27
Mexiletine Approved, Investigational Phase 4,Phase 3,Phase 1,Not Applicable 31828-71-4 4178
28
Procainamide Approved Phase 4,Phase 3 51-06-9 4913
29
Remifentanil Approved Phase 4,Not Applicable 132875-61-7 60815
30
Ajmaline Approved, Experimental Phase 4,Phase 2,Not Applicable 4360-12-7 441080
31
Diltiazem Approved, Investigational Phase 4,Phase 1 42399-41-7 39186
32
Methadone Approved, Illicit Phase 4 76-99-3 4095
33
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
34
Hydromorphone Approved, Illicit Phase 4 466-99-9 5284570
35
Ibutilide Approved Phase 4,Phase 2 122647-31-8, 122647-32-9 60753
36
Progesterone Approved, Vet_approved Phase 4,Phase 2 57-83-0 5994
37
Testosterone Approved, Experimental, Investigational Phase 4 58-22-0, 481-30-1 10204 6013
38
Testosterone enanthate Approved Phase 4 315-37-7 9416
39
Methyltestosterone Approved Phase 4 58-18-4 6010
40
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0
41
Dobutamine Approved Phase 4 34368-04-2 36811
42
Nebivolol Approved, Investigational Phase 4 152520-56-4, 99200-09-6, 118457-14-0 71301
43
Atenolol Approved Phase 4,Phase 1,Phase 2,Not Applicable 29122-68-7 2249
44
Carvedilol Approved, Investigational Phase 4,Phase 2 72956-09-3 2585
45
Bisoprolol Approved Phase 4,Not Applicable 66722-44-9 2405
46
Propranolol Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1 525-66-6 4946
47
Esmolol Approved Phase 4,Phase 3,Phase 2 103598-03-4, 81147-92-4 59768
48
Norepinephrine Approved Phase 4 51-41-2 439260
49
Ephedrine Approved Phase 4,Not Applicable,Early Phase 1 299-42-3 9294
50
Phenylephrine Approved Phase 4,Not Applicable,Early Phase 1 59-42-7 6041

Interventional clinical trials:

(show top 50) (show all 1111)
# 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 Assessment of Cardiac Resynchronization Therapy in Patients With Wide QRS and Non-specific Intraventricular Conduction Delay: a Randomized Trial Unknown status NCT02454439 Phase 4
3 Safety and the Effects of Isolated Left Ventricular Pacing in Patients With Bradyarrhythmias Unknown status NCT01717469 Phase 4
4 Ivabradine in Hemodialysed Patients With Increased Heart Rate Unknown status NCT01364077 Phase 4 Ivabradine;Placebo
5 BHCG Level in Day 4,7, in Comparison to Day 10 as an Indicator for Treatment Success Unknown status NCT01860690 Phase 4 Methotrexate
6 Catheter Ablation Versus Antiarrhythmic Drugs for Outflow Tract Ventricular ARrhythmias Unknown status NCT01780311 Phase 4 antiarrhythmic drugs (Flecainide or Propafenone or Sotalol)
7 Comparative Study Between Cryoablation and Radiofrequency Ablation in the Treatment of Supraventricular Tachycardia Unknown status NCT01584154 Phase 4
8 Resynchronization in Paced Heart Failure Patients With Implantable Cardioverter Defibrillator (ICD) Indication Unknown status NCT01415024 Phase 4
9 Right Ventricular Septal Pacing for the Prevention of Left Ventricular Dysfunction in Patients With Atrio-Ventricular Block Unknown status NCT00709774 Phase 4
10 Ventricular Pacing Site Selection (V-PASS) Unknown status NCT00292383 Phase 4
11 Laparascopy Versus Laparatomy in the Management of Ruptured Ectopic Pregnancy Unknown status NCT01932957 Phase 4
12 To Evaluate the Efficacy and Safety of Wenxin Keli in Treating Atrial Premature Beats Unknown status NCT02319603 Phase 4 Low dose WenXin keli;High dose WenXin keli
13 Medical ANtiarrhythmic Treatment or Radiofrequency Ablation in Ischemic Ventricular Tachyarrhythmias Unknown status NCT02303639 Phase 4 Antiarrhythmic drug therapy
14 Study to Reduce Symptoms of Premature Beats With Ranolazine Unknown status NCT01996618 Phase 4 Ranolazine
15 Shensongyangxin Capsule in the Treatment of Sinus Bradycardia With Premature Ventricular Contractions Unknown status NCT01750775 Phase 4 Shensong Yangxin capsule;placebo Capsule
16 Shensong Yangxin Capsule in the Treatment of Heart Failure Complicated With Ventricular Premature Beat Unknown status NCT01612260 Phase 4 Shensong Yangxin capsule;placebo Capsule
17 Safety of Amiodarone and Ranolazine Together in Patients With Angina Unknown status NCT01558830 Phase 4 ranolazine;placebo
18 Arrhythmia Restart Prevention and RatE STabilization in Atrial Fibrillation Unknown status NCT00224341 Phase 4
19 Mode Evaluation in Sick Sinus Syndrome Trial (MODEST) Unknown status NCT00161551 Phase 4
20 Efficacy of a Pacemaker Algorithm in Promotion of the Intrinsic Heart Activity. Unknown status NCT00156741 Phase 4
21 Impact of Acarbose on Abnormal Glucose Regulation in Patients With Coronary Artery Disease (AAA Trial) Unknown status NCT00858676 Phase 4 acarbose
22 Clinical and Therapeutic Implications of Fibrosis in Hypertrophic Cardiomyopathy Unknown status NCT00879060 Phase 4 spironolactone
23 Effects of Atrial Rate-adaptive Pacing on Exercise Capacity in Patients With Chronic Heart Failure Complicated by Chronotropic Incompetence Unknown status NCT01016431 Phase 4
24 Benidipine and Hydrochlorothiazide in Fosinopril Treated Chronic Kidney Disease Patients With Hypertension Unknown status NCT02646397 Phase 4 Fosinopril;Benidipine;Hydrochlorothiazide
25 A Randomized Trial of Angiotensin Receptor bLocker,Fimasartan, in Aortic Stenosis (ALFA Trial) Unknown status NCT01589380 Phase 4 Fimasartan;Placebo
26 Comparison of Efficacy and Safety Among Dabigatran, Rivaroxaban, and Apixaban in Non-Valvular Atrial Fibrillation Unknown status NCT02666157 Phase 4 Dabigatran etexilate;Rivaroxaban;Apixaban
27 Spontaneous Atrio Ventricular Conduction Preservation Completed NCT00655213 Phase 4
28 Syncope: Pacing or Recording in the Later Years Completed NCT01423994 Phase 4
29 (SGB) in Men Treated for Prostate Cancer Improve Hot Flashes Not yet recruiting NCT03796195 Phase 4 .5% Bupivacaine
30 Evolution of the Heart Function When Monitoring Immunotherapies Anti-cancerous Inhibiting PD-1 Not yet recruiting NCT03313544 Phase 4 Nivolumab
31 Multimodal Analgesic Technique for Control of Post-laproscopy Abdominal Pain Completed NCT03241602 Phase 4 Intraperitoneal lidocaine
32 A Study of Ivabradine in African-American/ Black Subjects With Heart Failure and Left Ventricular Systolic Dysfunction. Completed NCT03456856 Phase 4 5mg Ivabradine
33 Evaluate the Effect of Aclidinium Bromide on Long-term Cardiovascular Safety and Exacerbations in Moderate to Very Severe COPD Patients. Completed NCT01966107 Phase 4 Aclidinium Bromide;Placebo
34 Beta Blocker Interruption After Uncomplicated Myocardial Infarction Recruiting NCT03498066 Phase 4 Beta-blockers withdrawal;Continuation of the Betablockers (βB) treatment
35 Clinical Efficacy of Potassium Canrenoate in Sinus Rhythm Restoration Among Patients With Atrial Fibrillation. Not yet recruiting NCT03536806 Phase 4 Saline 0.9%;Canrenone
36 Speed of Recovery of Reversal of Neuromuscular Blockade in Geriatric Patients Undergoing Spine Surgery Completed NCT03112993 Phase 4 sugammadex;Neostigmine
37 Evaluation of the Efficacy and Safety of Nifekalant Hydrochloride (NIF) Injection. Recruiting NCT03855826 Phase 4 Nifekalant hydrochloride;Amiodarone
38 Antiarrhythmics or Ablation for Ventricular Tachycardia 2 Recruiting NCT02830360 Phase 4 Antiarrythmic Drug Therapy
39 Safety and Efficacy of Periprocedural Apixaban Use for Reduction of the Risk of Cerebrovascular Events in Patients Undergoing Ventricular Tachycardia Radiofrequency Catheter Ablation Terminated NCT02666742 Phase 4 Apixaban;Aspirin
40 Anti-arrhythmic Therapy vs Catheter Ablation as First Line Treatment for AICD Shock Prevention Terminated NCT02114528 Phase 4 Antiarrhythmic Drug Therapy
41 Ultra-high Density Mapping With Multielectrode Catheter vs Conventional Point by Point Mapping for Ventricular Tachycardia Substrate Ablation Completed NCT02083016 Phase 4
42 Remifentanil Intravenous Patient Controlled Analgesia (IVPCA) for Ablation of Idiopathic Ventricular Tachycardia Completed NCT01901575 Phase 4 Remifentanil
43 Oral Verapamil in Acute Paroxysmal Supra Ventricular Tachycardia(PSVT) Recurrence Control Completed NCT01655316 Phase 4 Verapamil
44 Study Evaluating the Efficacy and Safety of Remifentanil in a Rapid Sequence Induction for Fragile Subjects Completed NCT01259648 Phase 4 0.5 µg/kg remifentanil;1.0 µg/kg remifentanil;NaCl
45 Radiation Exposure Reduction in Supraventricular Tachycardia Ablation Completed NCT01132274 Phase 4
46 Early Ablation Therapy for the Treatment of Ischemic Ventricular Tachycardia in Patients With Implantable Cardioverter Defibrillators Terminated NCT01557842 Phase 4 Drug Treatment
47 Stereotaxis Study To Obliterate Persistent Ventricular Tachycardia Completed NCT00851279 Phase 4
48 Optimal Anti-tachycardia Therapy in Implantable Cardioverter-defibrillator (ICD) Patients Without Pacing Indications Completed NCT00729703 Phase 4
49 Biventricular Tachycardias Outcome Trial Completed NCT00729235 Phase 4
50 Ajmaline Utilization in the Diagnosis and Treatment of Cardiac Arrhythmias Completed NCT00702117 Phase 4 flecainide;ajmaline;procainamide

Search NIH Clinical Center for Cardiac Conduction Defect

Cochrane evidence based reviews: death, sudden, cardiac

Sources

Genetic Tests for Cardiac Conduction Defect

About this section

Genetic tests related to Cardiac Conduction Defect:

# Genetic test Affiliating Genes
1 Sudden Cardiac Death 30
Sources

Anatomical Context for Cardiac Conduction Defect

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MalaCards organs/tissues related to Cardiac Conduction Defect:

42
Heart, Testes, Kidney, Brain, Lung, Endothelial, Liver
Sources

Publications for Cardiac Conduction Defect

About this section

Articles related to Cardiac Conduction Defect:

(show top 50) (show all 3082)
# Title Authors Year
1
Primary Prevention of Sudden Cardiac Death With Implantable Cardioverter-Defibrillator Therapy in Patients With Arrhythmogenic Right Ventricular Cardiomyopathy. ( 30678832 )
2019
2
Appropriate use of genetics in a young patient with atrioventricular block and family history of sudden cardiac death. ( 30891417 )
2019
3
Myocardial Fibrosis as a Pathway of Prediction of Ventricular Arrhythmias and Sudden Cardiac Death in Patients With Nonischemic Dilated Cardiomyopathy. ( 31094736 )
2019
4
A missense variant in the titin gene in Doberman pinscher dogs with familial dilated cardiomyopathy and sudden cardiac death. ( 30715562 )
2019
5
Sudden cardiac death in a patient with LGI1 antibody-associated encephalitis. ( 30708290 )
2019
6
Effectiveness of the 2014 European Society of Cardiology guideline on sudden cardiac death in hypertrophic cardiomyopathy: a systematic review and meta-analysis. ( 30366935 )
2019
7
Sudden Cardiac Death and Ventricular Arrhythmias in Hypertrophic Cardiomyopathy. ( 30392982 )
2019
8
Exercise hemodynamics in hypertrophic cardiomyopathy identify risk of incident heart failure but not ventricular arrhythmias or sudden cardiac death. ( 30075967 )
2019
9
QT prolongation and sudden cardiac death risk in hypertrophic cardiomyopathy. ( 29513133 )
2019
10
Correction to: Racial Differences in Sudden Cardiac Death: Atherosclerosis Risk in Communities Study (ARIC). ( 30933613 )
2019
11
Exercise-related sudden cardiac death of an American football player with arrhythmogenic right ventricular dysplasia/cardiomyopathy AND sarcoidosis. ( 30997064 )
2019
12
Prediction and prevention of sudden cardiac death in transposition of the great arteries: A step closer. ( 31029496 )
2019
13
Sudden cardiac death due to primary malignant pericardial mesothelioma: Brief report and literature review. ( 30705816 )
2019
14
Mechanisms of myocardial ischemia inducing sudden cardiac death in athletes with anomalous coronary origin from the opposite sinus: Insights from a computational fluid dynamic study. ( 30808598 )
2019
15
Sudden Cardiac Death in Long QT syndrome (LQTS), Brugada Syndrome, and Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT). ( 31078562 )
2019
16
Sudden Cardiac Death in Brugada Syndrome. ( 31008774 )
2019
17
Quantification of Ventricular Repolarization Variation for Sudden Cardiac Death Risk Stratification in Atrial Fibrillation. ( 29994685 )
2019
18
Sudden cardiac death in nonischemic cardiomyopathy. ( 31075279 )
2019
19
Editorial commentary: Ethnic and racial disparities and differences in sudden cardiac death burden and survival: How do we close the gap? ( 30093228 )
2019
20
TpTe and TpTe/QT: novel markers to predict sudden cardiac death in ESRD? ( 30118535 )
2019
21
Sudden cardiac death associated with cardiac catheterization in Williams syndrome: a case report and review of literature. ( 30950363 )
2019
22
A balanced translocation disrupting SCN5A in a family with Brugada syndrome and sudden cardiac death. ( 30170230 )
2019
23
Postmortem computed tomography angiography (PMCTA) and traditional autopsy in cases of sudden cardiac death due to coronary artery disease: a systematic review and meta-analysis. ( 30259270 )
2019
24
Electrocardiographic conduction and repolarization markers associated with sudden cardiac death: moving along the electrocardiography waveform. ( 30260143 )
2019
25
Sudden cardiac death in patients undergoing dialysis: More than a single toxin. ( 30261293 )
2019
26
Impact of mineralocorticoid receptor antagonists on the risk of sudden cardiac death in patients with heart failure and left-ventricular systolic dysfunction: an individual patient-level meta-analysis of three randomized-controlled trials. ( 30264282 )
2019
27
The changing epidemiology of ventricular arrhythmias and sudden cardiac death: Is it a reality? ( 30291915 )
2019
28
ECG left ventricular hypertrophy as a risk predictor of sudden cardiac death. ( 30293667 )
2019
29
Aspirin to Prevent Sudden Cardiac Death in Athletes with High Coronary Artery Calcium Scores. ( 30296406 )
2019
30
Autoantibodies for Cardiac Channels and Sudden Cardiac Death and its Relationship to Autoimmune Disorders. ( 30009713 )
2019
31
Pericardial Cyst: Cause of Sudden Cardiac Death? ( 29783280 )
2019
32
The nightmare ECG of a spontaneously aborted sudden cardiac death. ( 29673010 )
2019
33
The quest to improve sudden cardiac death prediction using sympathetic innervation scintigraphy: Chasing a mirage? ( 31111451 )
2019
34
Incidence and Predictors of Sudden Cardiac Death After a Major Non-Fatal Cardiovascular Event. ( 31109887 )
2019
35
Relation of Body Mass Index Categories with Risk of Sudden Cardiac Death. ( 31105141 )
2019
36
Is Sauna Bathing Protective of Sudden Cardiac Death? A Review of the Evidence. ( 31102597 )
2019
37
Machine learning for prediction of sudden cardiac death in heart failure patients with low left ventricular ejection fraction: study protocol for a retroprospective multicentre registry in China. ( 31101692 )
2019
38
New Approaches in the Management of Sudden Cardiac Death in Patients with Heart Failure-Targeting the Sympathetic Nervous System. ( 31100908 )
2019
39
Cases in Precision Medicine: Genetic Assessment After a Sudden Cardiac Death in the Family. ( 31083726 )
2019
40
The role of cardiorespiratory fitness on the risk of sudden cardiac death at the population level: A systematic review and meta-analysis of the available evidence. ( 31075278 )
2019
41
Lethal immunoglobulins: Autoantibodies and sudden cardiac death, Autoimmun Rev. 2019 Feb 14. pii: S1568-9972(19)30037-0. doi: 10.1016/j.autrev.2018.12.005. [Epub ahead of print] of Ryabkova VA et al. ( 31059837 )
2019
42
Imaging for sudden cardiac death risk stratification: Current perspective and future directions. ( 31054859 )
2019
43
Usefulness of Single Nucleotide Polymorphisms as Predictors of Sudden Cardiac Death. ( 31053292 )
2019
44
Very long-term survival and late sudden cardiac death in cardiac resynchronization therapy patients. ( 31046090 )
2019
45
Risk factors for sudden cardiac death to determine high risk patients in specific patient populations that may benefit from a wearable defibrillator. ( 31040933 )
2019
46
Sudden cardiac death in a young adult man due to spontaneous coronary artery dissection. ( 31025638 )
2019
47
Prediction of Sudden Cardiac Death in Implantable Cardioverter Defibrillators: A Review and Comparative Study of Heart Rate Variability Features. ( 31021774 )
2019
48
Anomalous Coronary Artery Origin and Sudden Cardiac Death: Clinical and Pathological Insights From a National Pathology Registry. ( 31000108 )
2019
49
Intraoperative sudden cardiac death in pediatric patients - Calamity yet to overcome? ( 30971607 )
2019
50
Sudden Cardiac Death in a Hyperthyroid Adult Female. ( 30902169 )
2019
Sources

Variations for Cardiac Conduction Defect

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ClinVar genetic disease variations for Cardiac Conduction Defect:

6 (show top 50) (show all 58)
# Gene Variation Type Significance SNP ID Assembly Location
1 AKAP10 NM_007202.3(AKAP10): c.1936A> G (p.Ile646Val) single nucleotide variant risk factor rs203462 GRCh37 Chromosome 17, 19812541: 19812541
2 AKAP10 NM_007202.3(AKAP10): c.1936A> G (p.Ile646Val) single nucleotide variant risk factor rs203462 GRCh38 Chromosome 17, 19909228: 19909228
3 PLN NM_002667.4(PLN): c.116T> G (p.Leu39Ter) single nucleotide variant Pathogenic/Likely pathogenic rs111033560 GRCh37 Chromosome 6, 118880200: 118880200
4 PLN NM_002667.4(PLN): c.116T> G (p.Leu39Ter) single nucleotide variant Pathogenic/Likely pathogenic rs111033560 GRCh38 Chromosome 6, 118559037: 118559037
5 MYH6 NM_002471.3(MYH6): c.3010G> T (p.Ala1004Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs143978652 GRCh37 Chromosome 14, 23862646: 23862646
6 MYH6 NM_002471.3(MYH6): c.3010G> T (p.Ala1004Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs143978652 GRCh38 Chromosome 14, 23393437: 23393437
7 MT-TP; MT-TT m.15923A> G single nucleotide variant Uncertain significance rs1556424691 GRCh38 Chromosome MT, 15923: 15923
8 MT-TP; MT-TT m.15923A> G single nucleotide variant Uncertain significance rs1556424691 GRCh37 Chromosome MT, 15923: 15923
9 TNNT2 NM_001001430.2(TNNT2): c.690-4G> T single nucleotide variant Conflicting interpretations of pathogenicity rs201753429 GRCh37 Chromosome 1, 201330501: 201330501
10 TNNT2 NM_001001430.2(TNNT2): c.690-4G> T single nucleotide variant Conflicting interpretations of pathogenicity rs201753429 GRCh38 Chromosome 1, 201361373: 201361373
11 RYR2 NM_001035.2(RYR2): c.3380A> G (p.Glu1127Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs200525962 GRCh37 Chromosome 1, 237730032: 237730032
12 RYR2 NM_001035.2(RYR2): c.3380A> G (p.Glu1127Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs200525962 GRCh38 Chromosome 1, 237566732: 237566732
13 TTN NM_001267550.2(TTN): c.29230C> T (p.Arg9744Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs375266859 GRCh37 Chromosome 2, 179571371: 179571371
14 TTN NM_001267550.2(TTN): c.29230C> T (p.Arg9744Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs375266859 GRCh38 Chromosome 2, 178706644: 178706644
15 KCNH2 NM_000238.3(KCNH2): c.239C> T (p.Ala80Val) single nucleotide variant not provided rs199473493 GRCh37 Chromosome 7, 150671867: 150671867
16 KCNH2 NM_000238.3(KCNH2): c.239C> T (p.Ala80Val) single nucleotide variant not provided rs199473493 GRCh38 Chromosome 7, 150974779: 150974779
17 SCN5A NM_198056.2(SCN5A): c.1381T> G (p.Leu461Val) single nucleotide variant Benign rs41313697 GRCh37 Chromosome 3, 38646357: 38646357
18 SCN5A NM_198056.2(SCN5A): c.1381T> G (p.Leu461Val) single nucleotide variant Benign rs41313697 GRCh38 Chromosome 3, 38604866: 38604866
19 SCN5A NM_000335.4(SCN5A): c.2944T> C (p.Cys982Arg) single nucleotide variant Uncertain significance rs199473182 GRCh37 Chromosome 3, 38622706: 38622706
20 SCN5A NM_000335.4(SCN5A): c.2944T> C (p.Cys982Arg) single nucleotide variant Uncertain significance rs199473182 GRCh38 Chromosome 3, 38581215: 38581215
21 SCN5A NM_198056.2(SCN5A): c.5038G> A (p.Ala1680Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs199473294 GRCh37 Chromosome 3, 38592825: 38592825
22 SCN5A NM_198056.2(SCN5A): c.5038G> A (p.Ala1680Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs199473294 GRCh38 Chromosome 3, 38551334: 38551334
23 GPD1L NM_015141.3(GPD1L): c.520G> A (p.Glu174Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs112122950 GRCh37 Chromosome 3, 32188128: 32188128
24 GPD1L NM_015141.3(GPD1L): c.520G> A (p.Glu174Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs112122950 GRCh38 Chromosome 3, 32146636: 32146636
25 ANK2 NM_001148.4(ANK2): c.9173G> A (p.Arg3058His) single nucleotide variant Uncertain significance rs730880048 GRCh38 Chromosome 4, 113357791: 113357791
26 ANK2 NM_001148.4(ANK2): c.9173G> A (p.Arg3058His) single nucleotide variant Uncertain significance rs730880048 GRCh37 Chromosome 4, 114278947: 114278947
27 AKAP9 NM_005751.4(AKAP9): c.5369T> G (p.Val1790Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs151021935 GRCh38 Chromosome 7, 92052726: 92052726
28 AKAP9 NM_005751.4(AKAP9): c.5369T> G (p.Val1790Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs151021935 GRCh37 Chromosome 7, 91682040: 91682040
29 CACNA1C NM_000719.6(CACNA1C): c.985G> A (p.Gly329Ser) single nucleotide variant Uncertain significance rs786205744 GRCh37 Chromosome 12, 2602424: 2602424
30 CACNA1C NM_000719.6(CACNA1C): c.985G> A (p.Gly329Ser) single nucleotide variant Uncertain significance rs786205744 GRCh38 Chromosome 12, 2493258: 2493258
31 HCN4 NM_005477.2(HCN4): c.2275G> A (p.Val759Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs62641689 GRCh38 Chromosome 15, 73323818: 73323818
32 HCN4 NM_005477.2(HCN4): c.2275G> A (p.Val759Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs62641689 GRCh37 Chromosome 15, 73616159: 73616159
33 DPP6 NM_001039350.2(DPP6): c.482C> T (p.Pro161Leu) single nucleotide variant Uncertain significance rs869025384 GRCh38 Chromosome 7, 154637867: 154637867
34 DPP6 NM_001039350.2(DPP6): c.482C> T (p.Pro161Leu) single nucleotide variant Uncertain significance rs869025384 GRCh37 Chromosome 7, 154429577: 154429577
35 NEBL NM_006393.2(NEBL): c.2616G> T (p.Lys872Asn) single nucleotide variant Uncertain significance rs869025491 GRCh38 Chromosome 10, 20808655: 20808655
36 NEBL NM_006393.2(NEBL): c.2616G> T (p.Lys872Asn) single nucleotide variant Uncertain significance rs869025491 GRCh37 Chromosome 10, 21097584: 21097584
37 SCN3B NM_018400.3(SCN3B): c.587C> G (p.Ser196Cys) single nucleotide variant Uncertain significance rs777776827 GRCh37 Chromosome 11, 123504912: 123504912
38 SCN3B NM_018400.3(SCN3B): c.587C> G (p.Ser196Cys) single nucleotide variant Uncertain significance rs777776827 GRCh38 Chromosome 11, 123634204: 123634204
39 CACNA1C NM_000719.6(CACNA1C): c.5626A> G (p.Lys1876Glu) single nucleotide variant Uncertain significance rs869025368 GRCh37 Chromosome 12, 2794954: 2794954
40 CACNA1C NM_000719.6(CACNA1C): c.5626A> G (p.Lys1876Glu) single nucleotide variant Uncertain significance rs869025368 GRCh38 Chromosome 12, 2685788: 2685788
41 MYH7 NM_000257.3(MYH7): c.3853+1G> A single nucleotide variant Uncertain significance rs202031879 GRCh37 Chromosome 14, 23888691: 23888691
42 MYH7 NM_000257.3(MYH7): c.3853+1G> A single nucleotide variant Uncertain significance rs202031879 GRCh38 Chromosome 14, 23419482: 23419482
43 MYOM1 NM_003803.3(MYOM1): c.3190C> T (p.His1064Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs755409090 GRCh38 Chromosome 18, 3116444: 3116444
44 MYOM1 NM_003803.3(MYOM1): c.3190C> T (p.His1064Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs755409090 GRCh37 Chromosome 18, 3116442: 3116442
45 TRPM4 NM_017636.3(TRPM4): c.1826C> G (p.Ala609Gly) single nucleotide variant Uncertain significance rs547541099 GRCh38 Chromosome 19, 49188723: 49188723
46 TRPM4 NM_017636.3(TRPM4): c.1826C> G (p.Ala609Gly) single nucleotide variant Uncertain significance rs547541099 GRCh37 Chromosome 19, 49691980: 49691980
47 RYR2 NM_001035.2(RYR2): c.5416G> A (p.Ala1806Thr) single nucleotide variant Uncertain significance rs767728159 GRCh38 Chromosome 1, 237614544: 237614544
48 RYR2 NM_001035.2(RYR2): c.5416G> A (p.Ala1806Thr) single nucleotide variant Uncertain significance rs767728159 GRCh37 Chromosome 1, 237777844: 237777844
49 TRPM4 NM_017636.3(TRPM4): c.1575G> A (p.Trp525Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs71352737 GRCh38 Chromosome 19, 49182889: 49182889
50 TRPM4 NM_017636.3(TRPM4): c.1575G> A (p.Trp525Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs71352737 GRCh37 Chromosome 19, 49686146: 49686146

Copy number variations for Cardiac Conduction Defect from CNVD:

7 (show all 32)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 16658 1 128900000 142600000 Deletion Sudden cardiac death
2 17395 1 142600000 155000000 Deletion S100A1 Sudden cardiac death
3 29860 1 237205701 237997288 Gain RYR2 Sudden cardiac death
4 38181 10 1 6600000 Gain Sudden cardiac death
5 59687 11 77100000 92800000 Deletion KCNA4 Sudden cardiac death
6 73255 12 92600000 120700000 Deletion ATP2A2 Sudden cardiac death
7 74068 13 10000000 16300000 Deletion Sudden cardiac death
8 74687 13 110300000 115169878 Gain Sudden cardiac death
9 77098 13 40100000 45200000 Gain Sudden cardiac death
10 84232 14 24600000 33300000 Deletion TINF2 Sudden cardiac death
11 95625 15 78300000 102531392 Gain Sudden cardiac death
12 101480 16 38600000 52600000 Deletion Sudden cardiac death
13 119791 18 17200000 19000000 Deletion Sudden cardiac death
14 119992 18 19000000 25000000 Deletion Sudden cardiac death
15 124165 19 1 6900000 Gain Sudden cardiac death
16 134550 2 102700000 110200000 Gain Sudden cardiac death
17 138742 2 169700000 183000000 Gain Sudden cardiac death
18 139544 2 183000000 189400000 Gain Sudden cardiac death
19 160068 21 6800000 16400000 Gain Sudden cardiac death
20 166127 3 1 8700000 Deletion ITPR1 Sudden cardiac death
21 166128 3 1 8700000 Gain Sudden cardiac death
22 170551 3 155838336 156256927 Deletion KCNAB1 Sudden cardiac death
23 170851 3 160700000 167600000 Gain TERC Sudden cardiac death
24 191731 5 1 9800000 Gain TERT Sudden cardiac death
25 196534 5 168500000 180915260 Gain Sudden cardiac death
26 208074 6 164500000 171115067 Gain Sudden cardiac death
27 217131 7 1 7300000 Gain Sudden cardiac death
28 218560 7 114600000 117400000 Gain Sudden cardiac death
29 221932 7 147900000 159138663 Gain KCNH2 Sudden cardiac death
30 244984 9 1 9000000 Gain Sudden cardiac death
31 247561 9 130300000 141213431 Gain Sudden cardiac death
32 254437 9 65900000 68700000 Deletion gain CMD1B Sudden cardiac death
Sources

Expression for Cardiac Conduction Defect

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Search GEO for disease gene expression data for Cardiac Conduction Defect.
Sources

Pathways for Cardiac Conduction Defect

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Pathways related to Cardiac Conduction Defect according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Aldosterone synthesis and secretion 38
Show member pathways
 12.58 KCNQ1 MYH7 PLN RYR2 SCN5A
2
Vascular smooth muscle contraction 38
Show member pathways
 12.36 MYH7 PLN RYR1 RYR2
3
Cardiac conduction 67
Show member pathways
 12.23 KCNH2 KCNQ1 MYBPC3 PLN RYR1 RYR2
4
Arrhythmogenic right ventricular cardiomyopathy (ARVC) 38
Show member pathways
 12.04 DSP LMNA RYR2
5
Calcium signaling pathway 38
Show member pathways
 11.89 PLN RYR1 RYR2
6
Dilated cardiomyopathy (DCM) 38
Show member pathways
 11.8 LMNA MYBPC3 MYH7 PLN RYR2
7
Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways 1
11.77 KCNH2 KCNQ1 RYR2 SCN5A
8
Netrin Signaling 65
11.17 RYR1 RYR2
9
Antiarrhythmic Pathway, Pharmacodynamics 62
10.92 DSP KCNH2 KCNQ1 LMNA PLN RYR2
10
Cell-type Dependent Selectivity of CCK2R Signaling 1
10.48 RYR1 RYR2
Sources

GO Terms for Cardiac Conduction Defect

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Cellular components related to Cardiac Conduction Defect according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 9.8 AKAP10 PLN RYR1 RYR2
2 cytoplasmic vesicle membrane GO:0030659 9.61 KCNQ1 RYR1 RYR2
3 sarcolemma GO:0042383 9.54 RYR1 RYR2 SCN5A
4 intercalated disc GO:0014704 9.52 DSP SCN5A
5 T-tubule GO:0030315 9.51 RYR1 SCN5A
6 smooth endoplasmic reticulum GO:0005790 9.48 RYR1 RYR2
7 calcium channel complex GO:0034704 9.46 RYR1 RYR2
8 sarcomere GO:0030017 9.43 MYBPC3 MYH7 RYR2
9 myosin filament GO:0032982 9.4 MYBPC3 MYH7
10 sarcoplasmic reticulum GO:0016529 9.33 PLN RYR1 RYR2
11 junctional sarcoplasmic reticulum membrane GO:0014701 9.32 RYR1 RYR2
12 sarcoplasmic reticulum membrane GO:0033017 9.13 PLN RYR1 RYR2
13 Z disc GO:0030018 9.02 MYBPC3 MYH7 RYR1 RYR2 SCN5A

Biological processes related to Cardiac Conduction Defect according to GeneCards Suite gene sharing:

(show all 38)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.89 KCNH2 KCNQ1 RYR1 RYR2 SCN5A
2 regulation of ion transmembrane transport GO:0034765 9.82 KCNH2 KCNQ1 SCN5A
3 calcium ion transport GO:0006816 9.81 PLN RYR1 RYR2
4 transmembrane transport GO:0055085 9.8 KCNH2 KCNQ1 RYR1 RYR2 SCN5A
5 muscle contraction GO:0006936 9.78 MYBPC3 MYH7 RYR1
6 ion transmembrane transport GO:0034220 9.78 KCNQ1 RYR1 RYR2 SCN5A
7 cellular calcium ion homeostasis GO:0006874 9.74 PLN RYR1 RYR2
8 skin development GO:0043588 9.68 DSP RYR1
9 release of sequestered calcium ion into cytosol GO:0051209 9.67 RYR1 RYR2
10 regulation of cardiac conduction GO:1903779 9.67 RYR1 RYR2
11 muscle filament sliding GO:0030049 9.67 MYBPC3 MYH7
12 regulation of heart contraction GO:0008016 9.66 KCNQ1 PLN
13 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.66 MYBPC3 MYH7
14 positive regulation of heart rate GO:0010460 9.65 KCNQ1 RYR2
15 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.65 PLN RYR2
16 regulation of the force of heart contraction GO:0002026 9.64 MYH7 PLN
17 membrane depolarization during action potential GO:0086010 9.63 KCNH2 SCN5A
18 positive regulation of potassium ion transmembrane transport GO:1901381 9.63 KCNH2 KCNQ1
19 potassium ion export across plasma membrane GO:0097623 9.62 KCNH2 KCNQ1
20 cellular response to epinephrine stimulus GO:0071872 9.62 KCNQ1 RYR2
21 regulation of cardiac muscle cell contraction GO:0086004 9.61 PLN SCN5A
22 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.6 KCNH2 KCNQ1
23 regulation of membrane repolarization GO:0060306 9.59 KCNH2 KCNQ1
24 membrane repolarization GO:0086009 9.58 KCNH2 KCNQ1
25 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.58 DSP RYR2
26 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.56 KCNH2 KCNQ1
27 atrial cardiac muscle cell action potential GO:0086014 9.55 KCNQ1 SCN5A
28 cellular response to caffeine GO:0071313 9.54 RYR1 RYR2
29 regulation of cytosolic calcium ion concentration GO:0051480 9.54 PLN RYR1 RYR2
30 membrane repolarization during action potential GO:0086011 9.52 KCNH2 KCNQ1
31 response to caffeine GO:0031000 9.51 RYR1 RYR2
32 regulation of heart rate GO:0002027 9.5 MYH7 RYR2 SCN5A
33 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.46 RYR1 RYR2
34 regulation of heart rate by cardiac conduction GO:0086091 9.46 DSP KCNH2 KCNQ1 SCN5A
35 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.43 KCNQ1 SCN5A
36 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.43 KCNH2 KCNQ1 SCN5A
37 ventricular cardiac muscle cell action potential GO:0086005 9.26 KCNH2 KCNQ1 RYR2 SCN5A
38 cardiac muscle contraction GO:0060048 9.1 KCNH2 KCNQ1 MYBPC3 MYH7 RYR2 SCN5A

Molecular functions related to Cardiac Conduction Defect according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 ion channel binding GO:0044325 9.69 KCNQ1 RYR2 SCN5A
2 voltage-gated ion channel activity GO:0005244 9.65 KCNH2 KCNQ1 SCN5A
3 delayed rectifier potassium channel activity GO:0005251 9.54 KCNH2 KCNQ1
4 protein kinase A regulatory subunit binding GO:0034237 9.52 KCNQ1 RYR2
5 calcium-release channel activity GO:0015278 9.46 RYR1 RYR2
6 ion channel activity GO:0005216 9.46 KCNH2 RYR1 RYR2 SCN5A
7 protein kinase A catalytic subunit binding GO:0034236 9.43 KCNQ1 RYR2
8 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.4 KCNH2 KCNQ1
9 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.37 KCNH2 KCNQ1
10 calmodulin binding GO:0005516 9.35 KCNQ1 MYH7 RYR1 RYR2 SCN5A
11 calcium-induced calcium release activity GO:0048763 9.32 RYR1 RYR2
12 ryanodine-sensitive calcium-release channel activity GO:0005219 9.26 RYR1 RYR2
13 scaffold protein binding GO:0097110 8.92 DSP KCNH2 KCNQ1 SCN5A
14 protein binding GO:0005515 10.24 AKAP10 DSP KCNH2 KCNQ1 LMNA MYBPC3
Sources

Sources for Cardiac Conduction Defect

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52