Cardiac Conduction Defect disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

SCD MCID: CRD132 MIFTS: 59	Cardiac Conduction Defect (SCD) Categories: Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs Download Expand all tables

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Aliases & Classifications for Cardiac Conduction Defect

MalaCards integrated aliases for Cardiac Conduction Defect:

Name: Cardiac Conduction Defect ⁵⁷

Sudden Cardiac Death ⁷⁵ ²⁹ ⁶ ⁷³

Cardiac Conduction Defect, Susceptibility to ⁵⁷ ¹³ ⁶

Conduction Disorder of the Heart ⁷³

Death, Sudden, Cardiac ⁴⁴

Death Sudden Cardiac ⁵⁵

Scd ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

HPO:

³²

cardiac conduction defect:
Inheritance autosomal dominant inheritance
Mortality/Aging sudden death

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 115080

MedGen ⁴² C0264886 C0085298 C1861884

MeSH ⁴⁴ D016757

SNOMED-CT via HPO ⁶⁹ 263681008 271594007 272030005 more

UMLS ⁷³ C0264886 C0085298

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Summaries for Cardiac Conduction Defect

UniProtKB/Swiss-Prot : ⁷⁵ 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 brugada syndrome and syncope, 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 Acarbose and Spironolactone have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and kidney, and related phenotypes are syncope and arrhythmia

Description from OMIM: 115080

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Related Diseases for Cardiac Conduction Defect

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 116)

#	Related Disease	Score	Top Affiliating Genes
1	brugada syndrome	29.4	KCNH2 KCNQ1 SCN5A
2	syncope	29.2	KCNH2 KCNQ1 SCN5A
3	hypertrophic cardiomyopathy	27.1	DSP LMNA MYBPC3 MYH7 PLN RYR2
4	long qt syndrome	27.0	KCNH2 KCNQ1 MYBPC3 RYR2 SCN5A
5	dilated cardiomyopathy	24.3	DSP KCNH2 KCNQ1 LMNA MYBPC3 MYH7
6	microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome	12.4
7	familial progressive cardiac conduction defect	12.4
8	sickle cell disease	12.1
9	progressive familial heart block	11.6
10	schnyder corneal dystrophy	11.5
11	superior semicircular canal dehiscence	11.5
12	fatty liver disease	11.5
13	progressive familial heart block, type ia	11.4
14	kearns-sayre syndrome	11.4
15	brugada syndrome 5	11.3
16	sickle cell anemia	11.1
17	qt interval, variation in	11.1
18	ehlers-danlos syndrome, spondylodysplastic type, 3	11.1
19	diabetes mellitus, noninsulin-dependent	11.1
20	body mass index quantitative trait locus 11	11.1
21	reye syndrome	11.1
22	emery-dreifuss muscular dystrophy 2, autosomal dominant	11.0
23	carnitine deficiency, systemic primary	11.0
24	hemoglobinopathy	10.9
25	long-thumb brachydactyly syndrome	10.9
26	heart-hand syndrome, spanish type	10.9
27	spondylometaphyseal dysplasia, sedaghatian type	10.9
28	myopathy, x-linked, with postural muscle atrophy	10.9
29	emery-dreifuss muscular dystrophy 1, x-linked	10.9
30	neuropathy, ataxia, and retinitis pigmentosa	10.9
31	emery-dreifuss muscular dystrophy 4, autosomal dominant	10.9
32	emery-dreifuss muscular dystrophy 5, autosomal dominant	10.9
33	emery-dreifuss muscular dystrophy 7, autosomal dominant	10.9
34	emery-dreifuss muscular dystrophy 3, autosomal recessive	10.9
35	leber hereditary optic neuropathy	10.9
36	subacute cerebellar degeneration	10.9
37	semicircular canal dehiscence syndrome	10.9
38	myopathy, proximal, and ophthalmoplegia	10.5	LMNA RYR1
39	sick sinus syndrome	10.4	LMNA SCN5A
40	brugada syndrome 1	10.3	KCNH2 SCN5A
41	arrhythmogenic right ventricular dysplasia, familial, 8	10.3	DSP RYR2
42	arrhythmogenic right ventricular dysplasia, familial, 2	10.3	RYR1 RYR2
43	first-degree atrioventricular block	10.2	MYH7 SCN5A
44	central core disease of muscle	10.2	RYR1 RYR2
45	muscle disorders	10.2	RYR1 RYR2
46	familial short qt syndrome	10.1	KCNH2 KCNQ1
47	familial isolated arrhythmogenic ventricular dysplasia, right dominant form	10.1	DSP LMNA RYR2
48	peripartum cardiomyopathy	10.1	MYH7 SCN5A
49	familial isolated arrhythmogenic ventricular dysplasia, biventricular form	10.1	DSP LMNA RYR2
50	familial isolated arrhythmogenic ventricular dysplasia, left dominant form	10.1	DSP LMNA RYR2

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

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Symptoms & Phenotypes for Cardiac Conduction Defect

Symptoms via clinical synopsis from OMIM:

⁵⁷

Cardiac:
progressive atrial conduction defect
arrhythmia

Misc:
sudden death

Neuro:
syncope

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

Clinical features from OMIM:

115080

Human phenotypes related to Cardiac Conduction Defect:

³²

#	Description	HPO Frequency	HPO Source Accession
1	syncope ³²		HP:0001279
2	arrhythmia ³²		HP:0011675

UMLS symptoms related to Cardiac Conduction Defect:

chest pain

MGI Mouse Phenotypes related to Cardiac Conduction Defect:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	9.96	LMNA MYBPC3 MYH7 RYR1 RYR2 AKAP10
2	growth/size/body region	MP:0005378	9.56	KCNQ1 LMNA RYR1 RYR2 AKAP10 SCN5A
3	craniofacial	MP:0005382	9.55	LMNA RYR1 AKAP10 DSP KCNH2
4	muscle	MP:0005369	9.28	LMNA MYBPC3 MYH7 RYR1 RYR2 SCN5A

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Drugs & Therapeutics for Cardiac Conduction Defect

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

(show top 50) (show all 319)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Acarbose

Approved, Investigational

Phase 4

56180-94-0

441184

Spironolactone

Approved

Phase 4,Phase 2,Not Applicable

1952-01-7, 52-01-7

5833

Benidipine

Approved, Investigational

Phase 4

105979-17-7

Fosinopril

Approved

Phase 4

98048-97-6

55891

Hydrochlorothiazide

Approved, Vet_approved

Phase 4,Phase 3

58-93-5

3639

Valsartan

Approved, Investigational

Phase 4,Phase 3

137862-53-4

60846

Miconazole

Approved, Investigational, Vet_approved

Phase 4

22916-47-8

4189

Lidocaine

Approved, Vet_approved

Phase 4,Phase 2

137-58-6

3676

Amlodipine

Approved

Phase 4,Phase 3

88150-42-9

2162

Angiotensin II

Approved, Investigational

Phase 4

68521-88-0, 4474-91-3, 11128-99-7

172198 65143

Methyltestosterone

Approved

Phase 4

58-18-4

6010

Testosterone

Approved, Investigational

Phase 4

58-22-0

6013

Testosterone enanthate

Approved

Phase 4

315-37-7

9416

Testosterone undecanoate

Approved, Investigational

Phase 4

5949-44-0

Eplerenone

Approved

Phase 4

107724-20-9

150310 443872

Carvedilol

Approved, Investigational

Phase 4,Phase 2

72956-09-3

2585

Nicorandil

Approved, Investigational

Phase 4,Not Applicable

65141-46-0

47528

Amiodarone

Approved, Investigational

Phase 4,Phase 3,Not Applicable

1951-25-3

2157

Sotalol

Approved

Phase 4,Phase 3,Not Applicable

959-24-0, 3930-20-9

5253

Neostigmine

Approved, Vet_approved

Phase 4

59-99-4

4456

Apixaban

Approved

Phase 4

503612-47-3

10182969

Rivaroxaban

Approved

Phase 4

366789-02-8

Chlorthalidone

Approved

Phase 4

77-36-1

2732

nivolumab

Approved

Phase 4

946414-94-4

Propafenone

Approved

Phase 4

54063-53-5

4932

Folic Acid

Approved, Nutraceutical, Vet_approved

Phase 4,Not Applicable

59-30-3

6037

Serine

Approved, Nutraceutical

Phase 4

56-45-1

5951

Cardiac Glycosides

Phase 4

Glycoside Hydrolase Inhibitors

Phase 4

Hypoglycemic Agents

Phase 4,Phase 3,Not Applicable

diuretics

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Diuretics, Potassium Sparing

Phase 4,Phase 3,Not Applicable

Hormone Antagonists

Phase 4,Phase 3,Not Applicable

Hormones

Phase 4,Phase 3,Phase 2,Not Applicable

Hormones, Hormone Substitutes, and Hormone Antagonists

Phase 4,Phase 3,Not Applicable

Mineralocorticoid Receptor Antagonists

Phase 4,Phase 2,Not Applicable

Mineralocorticoids

Phase 4,Phase 2,Not Applicable

Natriuretic Agents

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Angiotensin-Converting Enzyme Inhibitors

Phase 4,Phase 3,Phase 2,Not Applicable

Antihypertensive Agents

Phase 4,Phase 3,Phase 2,Not Applicable

calcium channel blockers

Phase 4,Phase 3,Phase 2

Calcium, Dietary

Phase 4,Phase 3,Phase 2,Not Applicable

HIV Protease Inhibitors

Phase 4,Phase 3

protease inhibitors

Phase 4,Phase 3

Sodium Chloride Symporter Inhibitors

Phase 4,Phase 3

Vasodilator Agents

Phase 4,Phase 3,Not Applicable

Angiotensin Receptor Antagonists

Phase 4

Central Nervous System Depressants

Phase 4,Phase 2,Phase 3,Phase 1

Potassium Channel Blockers

Phase 4,Phase 3,Not Applicable

Analgesics

Phase 4,Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 403)

#	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	Impact of Acarbose on Abnormal Glucose Regulation in Patients With Coronary Artery Disease (AAA Trial)	Unknown status	NCT00858676	Phase 4	acarbose
3	Clinical and Therapeutic Implications of Fibrosis in Hypertrophic Cardiomyopathy	Unknown status	NCT00879060	Phase 4	spironolactone
4	IRIS : Use of Implantable Defibrillator in High-Risk Patients Early After Acute Myocardial Infarction	Unknown status	NCT00157768	Phase 4
5	Effects of Atrial Rate-adaptive Pacing on Exercise Capacity in Patients With Chronic Heart Failure Complicated by Chronotropic Incompetence	Unknown status	NCT01016431	Phase 4
6	Benidipine and Hydrochlorothiazide in Fosinopril Treated Chronic Kidney Disease Patients With Hypertension	Unknown status	NCT02646397	Phase 4	Fosinopril;Benidipine;Hydrochlorothiazide
7	A Randomized Trial of Angiotensin Receptor bLocker,Fimasartan, in Aortic Stenosis (ALFA Trial)	Unknown status	NCT01589380	Phase 4	Fimasartan;Placebo
8	Spontaneous Atrio Ventricular Conduction Preservation	Completed	NCT00655213	Phase 4
9	Multimodal Analgesic Technique for Control of Post-laproscopy Abdominal Pain	Completed	NCT03241602	Phase 4	Intraperitoneal lidocaine
10	Protective Effect of EPA on Cardiovascular Events	Completed	NCT00231738	Phase 4	Eicosapentaenoic acid ethyl ester(EPADEL Capsule 300 TM)
11	'Effect of CRT on Defibrillation Threshold Estimates' Study	Completed	NCT00626093	Phase 4
12	Predictive Risk Stratification Through T Variability in ICD Patients Without Pacing Indications	Completed	NCT00560768	Phase 4
13	POWER (Pulse Width Optimized Waveform Evaluation Trial)	Completed	NCT00311181	Phase 4
14	Survival of Patients With Primary Prophylactic ICD Indication	Completed	NCT00619593	Phase 4
15	Comparison of Valsartan With Amlodipine in Hypertensive Patients With Glucose Intolerance	Completed	NCT00129233	Phase 4	Valsartan;Amlodipine
16	The Use of Dual Chamber ICD With Special Programmed Features to Lower the Risk of Inappropriate Shock	Completed	NCT00787800	Phase 4
17	Effects of Testosterone on Myocardial Repolarization	Completed	NCT03126656	Phase 4	Testosterone Undecanoate
18	Trop-Shock DFT-testing Versus None	Completed	NCT01230086	Phase 4
19	Physiologic Evaluation of Anomalous Right Coronary Artery Stenosis	Completed	NCT01133054	Phase 4
20	OptiLink HF Study: Optimization of Heart Failure Management Using Medtronic OptiVol Fluid Status Monitoring and CareLink Network	Completed	NCT00769457	Phase 4
21	Impact Of Eplerenone On Cardiovascular Outcomes In Patients Post Myocardial Infarction	Completed	NCT01176968	Phase 4	Eplerenone;Placebo
22	Study of Qiliqiangxin Capsule to Treat Dilated Cardiomyopathy	Completed	NCT01293903	Phase 4	Qiliqiangxin capsule;Placebo
23	Carvedilol Post-intervention Long-term Administration in Large-scale Trial	Completed	NCT01155635	Phase 4	Carvedilol;No Carvedilol
24	Assessment of Cardiac Resynchronization Therapy in Patients With Wide QRS and Non-specific Intraventricular Conduction Delay: a Randomized Trial	Recruiting	NCT02454439	Phase 4
25	A Study of Ivabradine in African-American/Black's With Heart Failure & Left Ventricular Systolic Dysfunction	Recruiting	NCT03456856	Phase 4	5mg Ivabradine
26	Speed of Recovery of Reversal of Neuromuscular Blockade in Geriatric Patients Undergoing Spine Surgery	Recruiting	NCT03112993	Phase 4	sugammadex;Neostigmine
27	Implantable Cardioverter Defibrillator Versus Optimal Medical Therapy In Patients With Variant Angina Manifesting as Aborted Sudden Cardiac Death	Recruiting	NCT02845531	Phase 4	Optimal Medical Therapy
28	Evaluation of the Entresto Effect on Sympathic Nervous System in Patient With Heart Failure	Recruiting	NCT02787798	Phase 4	valsartan/sacubitril 100 mg;valsartan/sacubitril 200 mg
29	Comparison of Efficacy and Safety Among Dabigatran, Rivaroxaban, and Apixaban in Non-Valvular Atrial Fibrillation	Recruiting	NCT02666157	Phase 4	Dabigatran etexilate;Rivaroxaban;Apixaban
30	Syncope: Pacing or Recording in the Later Years	Active, not recruiting	NCT01423994	Phase 4
31	Prospective Study of End Stage Renal Disease Patients With Coronary Artery Disease Treated by Oral Nicorandil	Active, not recruiting	NCT01475123	Phase 4	Nicorandil
32	Comparing the Effects of Spironolactone With Chlortalidone on LV Mass in Patients With CKD	Active, not recruiting	NCT02502981	Phase 4	Spironolactone;Chlortalidone
33	Evolution of the Heart Function When Monitoring Immunotherapies Anti-cancerous Inhibiting PD-1	Not yet recruiting	NCT03313544	Phase 4	Nivolumab
34	Beta Blocker Interruption After Uncomplicated Myocardial Infarction	Not yet 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	To Determine Optimal Time for Delivering Electrical Shocks to Cardiac Arrest Patients	Not yet recruiting	NCT01665755	Phase 4
37	Prospective Assessment of Premature Ventricular Contractions Suppression in Cardiomyopathy(PAPS)	Not yet recruiting	NCT03228823	Phase 4	Amiodarone (Antiarrhythmic drug)
38	CORE: Study to Evaluate the Conducted AF-Response-Algorithm in Patients Suffering From Heart Failure and Atrial Fibrillation	Terminated	NCT00170313	Phase 4
39	RAMYD Study - Evaluation of Arrhythmic Risk in Myotonic Dystrophy	Unknown status	NCT00127582	Phase 3
40	Hemodynamic Efficiency of an Hemodialysis Treatment With High Permeability in Post-resuscitation Shock	Unknown status	NCT00780299	Phase 3
41	DAPERB 3,4-DiAminoPyridine and Electrophysiological Response in Brugada Syndrome	Unknown status	NCT00701077	Phase 3	3,4-Di-amino-Pyridine;placebo
42	Prevention of Cardiovascular Disease in Middle-aged and Elderly Iranians Using a Single PolyPill	Unknown status	NCT01271985	Phase 3	PolyPill
43	Continuous Positive Airway Pressure Versus Noninvasive Ventilation in Patients With Overlap Syndrome	Unknown status	NCT01427673	Phase 3
44	A Randomized Trial of Udenafil Therapy in Patients With Mild Pulmonary Hypertension [ULTIMATE-Mild PHT]	Unknown status	NCT01696240	Phase 3	Placebo;Udenafil (Zydena)
45	A Randomized Trial of Udenafil Therapy in Patients With Heart Failure With Preserved Ejection Fraction [ULTIMATE-HFpEF]	Unknown status	NCT01599117	Phase 3	Placebo;Udenafil (Zydena)
46	Comparison of AAIsafeR and DDD Modes in Non-selected Patients	Completed	NCT01219621	Phase 3
47	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
48	Safety and Efficacy of Saxagliptin Plus Insulin With or Without Metformin	Completed	NCT00757588	Phase 3	Saxagliptin, 5 mg + insulin;Placebo + insulin
49	OMEGA-Study: Effect of Omega 3-Fatty Acids on the Reduction of Sudden Cardiac Death After Myocardial Infarction	Completed	NCT00251134	Phase 3	Zodin (drug);Olive oil (placebo)
50	Effect of Ranolazine on Arrhythmias and Microvolt T- Wave Alternans (MVTWA) Patients With LV Dysfunction	Completed	NCT00998218	Phase 3	Ranolazine;Placebo

Search NIH Clinical Center for Cardiac Conduction Defect

Cochrane evidence based reviews: death, sudden, cardiac

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Genetic Tests for Cardiac Conduction Defect

Genetic tests related to Cardiac Conduction Defect:

#	Genetic test	Affiliating Genes
1	Sudden Cardiac Death ²⁹

Sources

Anatomical Context for Cardiac Conduction Defect

MalaCards organs/tissues related to Cardiac Conduction Defect:

⁴¹

Heart, Testes, Kidney, Lung, Brain, Thyroid, Bone

Sources

Publications for Cardiac Conduction Defect

Articles related to Cardiac Conduction Defect:

(show top 50) (show all 495)

#	Title	Authors	Year
1	Incidence and risk factors of post-operative arrhythmias and sudden cardiac death after atrioventricular septal defect (AVSD) correction: Up to 47years of follow-up. ( 29249442 )	Kharbanda R.K....Roest A.A.W.	2018
2	Management of sudden cardiac death in cardiac sarcoidosis using the wearable cardioverter defibrillator. ( 29566033 )	Skowasch D....AndriAc R.	2018
3	Regarding the Case of Postpartum Sudden Cardiac Death After Spontaneous Coronary Artery Dissection in a Patient With Fibromuscular Dysplasia. ( 29904460 )	Calenda B.W....Olin J.W.	2018
4	Optimal Medications and Appropriate Implantable Cardioverter-defibrillator Shocks in Aborted Sudden Cardiac Death Due to Coronary Spasm. ( 29321418 )	Sueda S....Kohno H.	2018
5	Status of cardiac arrhythmia services in Africa in 2018: a PASCAR Sudden Cardiac Death Task Force report. ( 29745966 )	Talle M.A....Mayosi B.M.	2018
6	Chronic intermittent hypoxia promotes myocardial ischemia-related ventricular arrhythmias and sudden cardiac death. ( 29445096 )	Morand J....Godin-Ribuot D.	2018
7	Identification of Pulmonary Edema in Forensic Autopsy Cases of Sudden Cardiac Death Using Fourier Transform Infrared Microspectroscopy: A Pilot Study. ( 29364657 )	Lin H....Wang Z.	2018
8	Obesity and sudden cardiac death in the young: Clinical and pathological insights from a large national registry. ( 29319343 )	Finocchiaro G....Sheppard M.N.	2018
9	Heart failure and sudden cardiac death in heritable thoracic aortic disease caused by pathogenic variants in the SMAD3 gene. ( 29717556 )	Backer J....Braverman A.C.	2018
10	Prevention of sudden cardiac death in patients with Tetralogy of Fallot: Risk assessment and long term outcome. ( 29980366 )	Probst J....Wasmer K.	2018
11	Sudden cardiac death in young athletes with long QT syndrome: the role of genetic testing and cardiovascular screening. ( 29931253 )	Longo U.G....Denaro V.	2018
12	Algorithms used to identify ventricular arrhythmias and sudden cardiac death in retrospective studies: a systematic literature review. ( 29224509 )	Ye Y....Caffrey A.R.	2018
13	Sudden cardiac death in patients with rheumatoid arthritis. ( 28824786 )	Masoud S....Panoulas V.	2017
14	Risk stratification of sudden cardiac death in hypertension. ( 28916176 )	Tereshchenko L.G....Oparil S.	2017
15	Heart Failure and Sudden Cardiac Death. ( 29173412 )	Saour B....Yancy C.W.	2017
16	Sudden Cardiac Death in Acute Coronary Syndromes. ( 29173413 )	Dagres N....Hindricks G.	2017
17	Molecular genetic diagnostics for ventricular arrhythmias and sudden cardiac death syndromes. ( 28616646 )	Stallmeyer B....Schulze-Bahr E.	2017
18	[Predicting value of 2014 European guidelines risk prediction model for sudden cardiac death (HCM Risk-SCD) in Chinese patients with hypertrophic cardiomyopathy]. ( 29325362 )	Li W.X....Lei C.H.	2017
19	Traditional and novel electrocardiographic conduction and repolarization markers of sudden cardiac death. ( 27702850 )	Tse G....Yan B.P.	2017
20	Can documented coronary vasospasm be the smoking gun in settling the etiology of sudden cardiac death? ( 28870013 )	Kim N.H....Ko J.S.	2017
21	Sudden cardiac death in the young: the value of exercise testing. ( 28084955 )	Stephens P.	2017
22	Implantable Cardioverter-Defibrillators in Sudden Cardiac Death Survivors: Are We Doing All We Can? ( 28867264 )	Parkash R....Tang A.S.L.	2017
23	Biomarkers in Cardiomyopathies and Prediction of Sudden Cardiac Death. ( 28669332 )	Kruska M....Akin I.	2017
24	Genetic causes of sudden cardiac death in children: inherited arrhythmogenic diseases. ( 28759457 )	Vacanti G....Mazzanti A.	2017
25	Association of the genetic markers for myocardial infarction with sudden cardiac death. ( 28400043 )	Ivanova A.A....Voevoda M.I.	2017
26	Sudden cardiac death in a patient with advanced hepatocellular carcinoma with good response to sorafenib treatment: A case report with literature analysis. ( 28451419 )	Calistri L....Colagrande S.	2017
27	Novel Genetic Variants in BAG3 and TNNT2 in a Swedish Family with a History of Dilated Cardiomyopathy and Sudden Cardiac Death. ( 28669108 )	Fernlund E....Gunnarsson C.	2017
28	Sudden cardiac death among the young in Sweden from 2000 to 2010: an autopsy-based study. ( 28873959 )	Wisten A....Stattin E.L.	2017
29	Vital exhaustion and sudden cardiac death in the Atherosclerosis Risk in Communities Study. ( 28928241 )	Bogle B.M....Rosamond W.D.	2017
30	Media attention regarding sudden cardiac death associated with domperidone use does not affect in hospital ECG recording. ( 28924989 )	Berger F....van den Bemt P.	2017
31	Age and strain related aberrant Ca(2+) release is associated with sudden cardiac death in the ACTC E99K mouse model of hypertrophic cardiomyopathy. ( 28887330 )	Rowlands C....Macleod K.T.	2017
32	Early repolarization is associated with a significantly increased risk of ventricular arrhythmias and sudden cardiac death in patients with structural heart diseases. ( 28416467 )	Cheng Y.J....Wu S.H.	2017
33	Editorial commentary: QTdrugs: From electrocardiographic intervals to prevention of sudden cardiac death. ( 28882364 )	MA!rquez M.F.	2017
34	Aborted Sudden Cardiac Death After Unroofing of Anomalous Left Coronary Artery. ( 28838524 )	Agrawal H....Mery C.M.	2017
35	Rare case of infective endocarditis involving mitral annular calcification leading to hemopericardium and sudden cardiac death: a case report. ( 29288892 )	Wentzell S....Nair V.	2017
36	Implantable cardioverter-defibrillator therapy among patients with non-ischaemic vs. ischaemic cardiomyopathy for primary prevention of sudden cardiac death. ( 28082419 )	Amara N....Leclercq C.	2017
37	Guidelines for autopsy investigation of sudden cardiac death: 2017 update from the Association for European Cardiovascular Pathology. ( 28889247 )	Basso C....Michaud K.	2017
38	Fragmented QRS complex as a predictor of exercise-related sudden cardiac death. ( 28940877 )	Toukola T....Huikuri H.V.	2017
39	Sudden Cardiac Death. ( 28938708 )	Finocchiaro G....Sheppard M.	2017
40	Gender differences in sudden cardiac death in the young-a nationwide study. ( 28061807 )	Winkel B.G....Tfelt-Hansen J.	2017
41	2016 AHA/ACC Clinical Performance and Quality Measures for Prevention of Sudden Cardiac Death: A Report of the American College of Cardiology/American Heart Association Task Force on Performance Measures. ( 27993943 )	Al-Khatib S.M....Varosy P.D.	2017
42	Efficacy of Familial Screening After Sudden Cardiac Death in Young Adults Irrespective of Postmortem Analysis: Implication of a Pharmacological Challenge as a First Step of Screening. ( 28912208 )	Yagishita A....Hirao K.	2017
43	Sudden Cardiac Death in Ischemic Heart Disease: Pathophysiology and Risk Stratification. ( 29173410 )	El-Sherif N....Turitto G.	2017
44	Clinical and Genetic Diagnosis of Nonischemic Sudden Cardiac Death. ( 28566242 )	JimAcnez-JA!imez J....Tercedor L.	2017
45	Genetic anticipation in a special form of hypertrophic cardiomyopathy with sudden cardiac death in a family with 74 members across 5 generations. ( 28296734 )	Guo X....Li Y.	2017
46	Postpartum Sudden Cardiac Death After Spontaneous Coronary Artery Dissection in a Patient With Fibromuscular Dysplasia. ( 29317976 )	Shoja T....Lasic Z.	2017
47	Looking forward: PACES Task Force on prevention of sudden cardiac death in the young: a comprehensive approach to a preventable problem. ( 28084975 )	Erickson C.C....Salerno J.C.	2017
48	Comments on Letter to the Editor entitled: &quot;Role of electrophysiological evaluation for the best device choice to prevent sudden cardiac death in patients with Myotonic Dystrophy Type1 and Emery Dreifuss Muscular Dystrophy&quot;. ( 28291654 )	Sommerville R.B....Mann D.L.	2017
49	Thyroid-stimulating hormone and risk of sudden cardiac death, total mortality and cardiovascular morbidity. ( 28862752 )	LangAcn V.L....Jula A.M.	2017
50	Association of Polymorphism in SCN5A, GJA5, and KCNN3 Gene with Sudden Cardiac Death. ( 28577096 )	Ivanova A.A....Voevoda M.I.	2017

Sources

Genes for Cardiac Conduction Defect

Genes related to Cardiac Conduction Defect (3 elite genes):

(show all 11)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	AKAP10	A-Kinase Anchoring Protein 10	Protein Coding	592.62	Molecular basis known ⁵⁷ Susceptibility factor ⁵⁷ Risk factor ⁶ GeneCards inferred via : Variants (show sections)	12646697 17485678
2	PLN	Phospholamban	Protein Coding	400	Pathogenic ⁶
3	DSP	Desmoplakin	Protein Coding	400	Pathogenic ⁶
4	SCN5A	Sodium Voltage-Gated Channel Alpha Subunit 5	Protein Coding	38.7	Novoseek inferred ⁵⁵ GeneCards inferred via : Publications Variants (show sections)	19377070 15890323 16132053 (more) 16943925 17556186 19318916 19822451 17141278 17971661 19251209
5	LMNA	Lamin A/C	Protein Coding	25.47	Novoseek inferred ⁵⁵ GeneCards inferred via : Variants (show sections)	19328042 12467752 18611980
6	RYR1	Ryanodine Receptor 1	Protein Coding	20.42	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	19255753 15858232 19429830 (more) 17052226 16909197 18038129 20524717 11077897 17383296 12772016 20137534 17525003 19929034 18325461
7	RYR2	Ryanodine Receptor 2	Protein Coding	19.76	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	15201156 20408814 15845383 (more) 16701909 14659699 15364613 16828071 16157601 19804154 18038129 20132818 18845675 11807805 18221109 16339485 15197150 11897558
8	KCNH2	Potassium Voltage-Gated Channel Subfamily H Member 2	Protein Coding	19.7	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	16132053 8995352 15890322 (more) 18701618 11334834 16892402 18048364 12775586 19668779 12007180 11113008 14676148 18464931 16263765 17905336 20133899
9	MYH7	Myosin Heavy Chain 7	Protein Coding	19.51	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	10957787 16335287 12881443 (more) 8180512 9154300 11218759
10	MYBPC3	Myosin Binding Protein C, Cardiac	Protein Coding	19.27	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	16004897 20019025
11	KCNQ1	Potassium Voltage-Gated Channel Subfamily Q Member 1	Protein Coding	19.1	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	16436635 16132053 17905336

Sources

Variations for Cardiac Conduction Defect

ClinVar genetic disease variations for Cardiac Conduction Defect:

⁶

(show all 39)

#	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	rs111033560	GRCh37	Chromosome 6, 118880200: 118880200
4	PLN	NM_002667.4(PLN): c.116T> G (p.Leu39Ter)	single nucleotide variant	Pathogenic	rs111033560	GRCh38	Chromosome 6, 118559037: 118559037
5	GPD1L	NM_015141.3(GPD1L): c.520G> A (p.Glu174Lys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs112122950	GRCh37	Chromosome 3, 32188128: 32188128
6	GPD1L	NM_015141.3(GPD1L): c.520G> A (p.Glu174Lys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs112122950	GRCh38	Chromosome 3, 32146636: 32146636
7	ANK2	NM_001148.4(ANK2): c.9173G> A (p.Arg3058His)	single nucleotide variant	Uncertain significance	rs730880048	GRCh38	Chromosome 4, 113357791: 113357791
8	ANK2	NM_001148.4(ANK2): c.9173G> A (p.Arg3058His)	single nucleotide variant	Uncertain significance	rs730880048	GRCh37	Chromosome 4, 114278947: 114278947
9	AKAP9	NM_005751.4(AKAP9): c.5369T> G (p.Val1790Gly)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs151021935	GRCh38	Chromosome 7, 92052726: 92052726
10	AKAP9	NM_005751.4(AKAP9): c.5369T> G (p.Val1790Gly)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs151021935	GRCh37	Chromosome 7, 91682040: 91682040
11	CACNA1C	NM_000719.6(CACNA1C): c.985G> A (p.Gly329Ser)	single nucleotide variant	Uncertain significance	rs786205744	GRCh37	Chromosome 12, 2602424: 2602424
12	CACNA1C	NM_000719.6(CACNA1C): c.985G> A (p.Gly329Ser)	single nucleotide variant	Uncertain significance	rs786205744	GRCh38	Chromosome 12, 2493258: 2493258
13	HCN4	NM_005477.2(HCN4): c.2275G> A (p.Val759Ile)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs62641689	GRCh38	Chromosome 15, 73323818: 73323818
14	HCN4	NM_005477.2(HCN4): c.2275G> A (p.Val759Ile)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs62641689	GRCh37	Chromosome 15, 73616159: 73616159
15	DPP6	NM_001039350.2(DPP6): c.482C> T (p.Pro161Leu)	single nucleotide variant	Uncertain significance	rs869025384	GRCh38	Chromosome 7, 154637867: 154637867
16	NEBL	NM_006393.2(NEBL): c.2616G> T (p.Lys872Asn)	single nucleotide variant	Uncertain significance	rs869025491	GRCh38	Chromosome 10, 20808655: 20808655
17	NEBL	NM_006393.2(NEBL): c.2616G> T (p.Lys872Asn)	single nucleotide variant	Uncertain significance	rs869025491	GRCh37	Chromosome 10, 21097584: 21097584
18	SCN3B	NM_018400.3(SCN3B): c.587C> G (p.Ser196Cys)	single nucleotide variant	Uncertain significance	rs777776827	GRCh37	Chromosome 11, 123504912: 123504912
19	SCN3B	NM_018400.3(SCN3B): c.587C> G (p.Ser196Cys)	single nucleotide variant	Uncertain significance	rs777776827	GRCh38	Chromosome 11, 123634204: 123634204
20	CACNA1C	NM_000719.6(CACNA1C): c.5626A> G (p.Lys1876Glu)	single nucleotide variant	Uncertain significance	rs869025368	GRCh37	Chromosome 12, 2794954: 2794954
21	CACNA1C	NM_000719.6(CACNA1C): c.5626A> G (p.Lys1876Glu)	single nucleotide variant	Uncertain significance	rs869025368	GRCh38	Chromosome 12, 2685788: 2685788
22	MYH7	NM_000257.3(MYH7): c.3853+1G> A	single nucleotide variant	Uncertain significance	rs202031879	GRCh37	Chromosome 14, 23888691: 23888691
23	MYH7	NM_000257.3(MYH7): c.3853+1G> A	single nucleotide variant	Uncertain significance	rs202031879	GRCh38	Chromosome 14, 23419482: 23419482
24	MYOM1	NM_003803.3(MYOM1): c.3190C> T (p.His1064Tyr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs755409090	GRCh38	Chromosome 18, 3116444: 3116444
25	MYOM1	NM_003803.3(MYOM1): c.3190C> T (p.His1064Tyr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs755409090	GRCh37	Chromosome 18, 3116442: 3116442
26	TRPM4	NM_017636.3(TRPM4): c.1826C> G (p.Ala609Gly)	single nucleotide variant	Uncertain significance	rs547541099	GRCh38	Chromosome 19, 49188723: 49188723
27	TRPM4	NM_017636.3(TRPM4): c.1826C> G (p.Ala609Gly)	single nucleotide variant	Uncertain significance	rs547541099	GRCh37	Chromosome 19, 49691980: 49691980
28	RYR2	NM_001035.2(RYR2): c.5416G> A (p.Ala1806Thr)	single nucleotide variant	Uncertain significance	rs767728159	GRCh38	Chromosome 1, 237614544: 237614544
29	RYR2	NM_001035.2(RYR2): c.5416G> A (p.Ala1806Thr)	single nucleotide variant	Uncertain significance	rs767728159	GRCh37	Chromosome 1, 237777844: 237777844
30	TRPM4	NM_017636.3(TRPM4): c.1575G> A (p.Trp525Ter)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs71352737	GRCh38	Chromosome 19, 49182889: 49182889
31	TRPM4	NM_017636.3(TRPM4): c.1575G> A (p.Trp525Ter)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs71352737	GRCh37	Chromosome 19, 49686146: 49686146
32	DSP	NM_004415.3(DSP): c.2528C> A (p.Ser843Ter)	single nucleotide variant	Pathogenic	rs1057518920	GRCh37	Chromosome 6, 7575619: 7575619
33	DSP	NM_004415.3(DSP): c.2528C> A (p.Ser843Ter)	single nucleotide variant	Pathogenic	rs1057518920	GRCh38	Chromosome 6, 7575386: 7575386
34	RYR2	NM_001035.2(RYR2): c.14650A> G (p.Met4884Val)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 1, 237828440: 237828440
35	RYR2	NM_001035.2(RYR2): c.14650A> G (p.Met4884Val)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 1, 237991740: 237991740
36	HCN4	NM_005477.2(HCN4): c.1928T> G (p.Leu643Arg)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 15, 73325005: 73325005
37	HCN4	NM_005477.2(HCN4): c.1928T> G (p.Leu643Arg)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 15, 73617346: 73617346
38	CACNA1C	NM_000719.6(CACNA1C): c.1582T> G (p.Trp528Gly)	single nucleotide variant	Uncertain significance	rs755846732	GRCh38	Chromosome 12, 2566495: 2566495
39	CACNA1C	NM_000719.6(CACNA1C): c.1582T> G (p.Trp528Gly)	single nucleotide variant	Uncertain significance	rs755846732	GRCh37	Chromosome 12, 2675661: 2675661

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

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

Sources

Pathways for Cardiac Conduction Defect

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

#	Super pathways	Score	Top Affiliating Genes
1	Aldosterone synthesis and secretion ³⁷ Show member pathways Adrenergic signaling in cardiomyocytes ³⁷ Ca2+ activated K+ channels ⁶⁶ Cortisol synthesis and secretion ³⁷ Cushing's syndrome ³⁷ Insulin secretion ³⁷ Melanogenesis ³⁷ Thyroid hormone synthesis ³⁷	12.58	KCNQ1 MYH7 PLN RYR2 SCN5A
2	Vascular smooth muscle contraction ³⁷ Show member pathways cGMP-PKG signaling pathway ³⁷ Oxytocin signaling pathway ³⁷	12.34	MYH7 PLN RYR1 RYR2
3	Cardiac conduction ⁶⁶ Show member pathways Classical Kir channels ⁶⁶ Ion homeostasis ⁶⁶ Ion transport by P-type ATPases ⁶⁶ Muscle contraction ⁶⁶ Phase 1 - inactivation of fast Na+ channels ⁶⁶ Phase 3 - rapid repolarisation ⁶⁶ Phase 4 - resting membrane potential ⁶⁶ Physiological factors ⁶⁶ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁶ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁶ Tandem pore domain potassium channels ⁶⁶ TWIK related potassium channel (TREK) ⁶⁶ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁶ TWIK-related spinal cord K+ channel (TRESK) ⁶⁶ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁶	12.23	KCNH2 KCNQ1 MYBPC3 PLN RYR1 RYR2
4	Arrhythmogenic right ventricular cardiomyopathy (ARVC) ³⁷ Show member pathways Arrhythmogenic Right Ventricular Cardiomyopathy ¹ Calpain Protease Regulates Cellular Mechanics ⁶⁴	12.04	DSP LMNA RYR2
5	Calcium signaling pathway ³⁷ Show member pathways Oxytocin signaling ¹	11.88	PLN RYR1 RYR2
6	Dilated cardiomyopathy (DCM) ³⁷ Show member pathways Hypertrophic cardiomyopathy (HCM) ³⁷	11.79	LMNA MYBPC3 MYH7 PLN RYR2
7	Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways ¹	11.77	KCNH2 KCNQ1 RYR2 SCN5A
8	Antiarrhythmic Pathway, Pharmacodynamics ⁶¹	10.92	DSP KCNH2 KCNQ1 LMNA PLN RYR2
9	Cell-type Dependent Selectivity of CCK2R Signaling ¹	10.48	RYR1 RYR2

Sources

GO Terms for Cardiac Conduction Defect

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

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoplasmic vesicle membrane	GO:0030659	9.61	KCNQ1 RYR1 RYR2
2	sarcolemma	GO:0042383	9.54	RYR1 RYR2 SCN5A
3	T-tubule	GO:0030315	9.51	RYR1 SCN5A
4	smooth endoplasmic reticulum	GO:0005790	9.49	RYR1 RYR2
5	muscle myosin complex	GO:0005859	9.48	MYBPC3 MYH7
6	calcium channel complex	GO:0034704	9.46	RYR1 RYR2
7	sarcoplasmic reticulum	GO:0016529	9.43	PLN RYR1 RYR2
8	myosin filament	GO:0032982	9.4	MYBPC3 MYH7
9	sarcomere	GO:0030017	9.33	MYBPC3 MYH7 RYR2
10	junctional sarcoplasmic reticulum membrane	GO:0014701	9.32	RYR1 RYR2
11	sarcoplasmic reticulum membrane	GO:0033017	9.13	PLN RYR1 RYR2
12	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 40)

#	Name	GO ID	Score	Top Affiliating Genes
1	ion transport	GO:0006811	9.93	KCNH2 KCNQ1 RYR1 RYR2 SCN5A
2	transmembrane transport	GO:0055085	9.91	KCNH2 KCNQ1 RYR1 RYR2 SCN5A
3	ion transmembrane transport	GO:0034220	9.87	KCNQ1 RYR1 RYR2 SCN5A
4	regulation of ion transmembrane transport	GO:0034765	9.83	KCNH2 KCNQ1 SCN5A
5	calcium ion transport	GO:0006816	9.82	PLN RYR1 RYR2
6	cellular calcium ion homeostasis	GO:0006874	9.79	PLN RYR1 RYR2
7	skin development	GO:0043588	9.68	DSP RYR1
8	release of sequestered calcium ion into cytosol	GO:0051209	9.68	RYR1 RYR2
9	muscle filament sliding	GO:0030049	9.68	MYBPC3 MYH7
10	regulation of heart contraction	GO:0008016	9.67	KCNQ1 PLN
11	membrane depolarization during action potential	GO:0086010	9.67	KCNH2 SCN5A
12	striated muscle contraction	GO:0006941	9.67	MYBPC3 MYH7
13	ventricular cardiac muscle tissue morphogenesis	GO:0055010	9.66	MYBPC3 MYH7
14	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	GO:0010881	9.66	PLN RYR2
15	positive regulation of heart rate	GO:0010460	9.65	KCNQ1 RYR2
16	regulation of the force of heart contraction	GO:0002026	9.64	MYH7 PLN
17	positive regulation of potassium ion transmembrane transport	GO:1901381	9.64	KCNH2 KCNQ1
18	regulation of membrane repolarization	GO:0060306	9.63	KCNH2 KCNQ1
19	cellular response to epinephrine stimulus	GO:0071872	9.63	KCNQ1 RYR2
20	regulation of cardiac conduction	GO:1903779	9.63	PLN RYR1 RYR2
21	regulation of cardiac muscle cell contraction	GO:0086004	9.62	PLN SCN5A
22	membrane repolarization	GO:0086009	9.61	KCNH2 KCNQ1
23	regulation of ventricular cardiac muscle cell action potential	GO:0098911	9.61	DSP RYR2
24	membrane repolarization during cardiac muscle cell action potential	GO:0086013	9.6	KCNH2 KCNQ1
25	atrial cardiac muscle cell action potential	GO:0086014	9.59	KCNQ1 SCN5A
26	potassium ion export	GO:0071435	9.58	KCNH2 KCNQ1
27	response to caffeine	GO:0031000	9.58	RYR1 RYR2
28	cardiac conduction	GO:0061337	9.58	KCNH2 KCNQ1 SCN5A
29	membrane repolarization during ventricular cardiac muscle cell action potential	GO:0098915	9.56	KCNH2 KCNQ1
30	cellular response to caffeine	GO:0071313	9.55	RYR1 RYR2
31	regulation of cytosolic calcium ion concentration	GO:0051480	9.54	PLN RYR1 RYR2
32	release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	GO:0014808	9.52	RYR1 RYR2
33	regulation of heart rate	GO:0002027	9.5	MYH7 RYR2 SCN5A
34	membrane repolarization during action potential	GO:0086011	9.49	KCNH2 KCNQ1
35	regulation of atrial cardiac muscle cell membrane repolarization	GO:0060372	9.48	KCNQ1 SCN5A
36	regulation of heart rate by cardiac conduction	GO:0086091	9.46	DSP KCNH2 KCNQ1 SCN5A
37	potassium ion export across plasma membrane	GO:0097623	9.43	KCNH2 KCNQ1
38	regulation of ventricular cardiac muscle cell membrane repolarization	GO:0060307	9.43	KCNH2 KCNQ1 SCN5A
39	ventricular cardiac muscle cell action potential	GO:0086005	9.26	KCNH2 KCNQ1 RYR2 SCN5A
40	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	voltage-gated ion channel activity	GO:0005244	9.67	KCNH2 KCNQ1 SCN5A
2	ion channel binding	GO:0044325	9.65	KCNQ1 RYR2 SCN5A
3	delayed rectifier potassium channel activity	GO:0005251	9.54	KCNH2 KCNQ1
4	protein kinase A regulatory subunit binding	GO:0034237	9.51	KCNQ1 RYR2
5	protein kinase A catalytic subunit binding	GO:0034236	9.46	KCNQ1 RYR2
6	ion channel activity	GO:0005216	9.46	KCNH2 RYR1 RYR2 SCN5A
7	calcium-release channel activity	GO:0015278	9.43	RYR1 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	ryanodine-sensitive calcium-release channel activity	GO:0005219	9.32	RYR1 RYR2
12	calcium-induced calcium release activity	GO:0048763	9.26	RYR1 RYR2
13	scaffold protein binding	GO:0097110	8.92	DSP KCNH2 KCNQ1 SCN5A
14	protein binding	GO:0005515	10.26	AKAP10 DSP KCNH2 KCNQ1 LMNA MYBPC3

Sources

Sources for Cardiac Conduction Defect

¹ BioSystems

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³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

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⁴⁰ LOVD

⁴¹ MalaCards

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⁵⁵ Novoseek

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⁵⁸ OMIM via Orphanet

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⁶¹ PharmGKB

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⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Cardiac Conduction Defect (SCD)

Aliases & Classifications for Cardiac Conduction Defect

MalaCards integrated aliases for Cardiac Conduction Defect:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Cardiac Conduction Defect

Related Diseases for Cardiac Conduction Defect

Diseases in the Cardiac Conduction Defect family:

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

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

Symptoms & Phenotypes for Cardiac Conduction Defect

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Cardiac Conduction Defect:

UMLS symptoms related to Cardiac Conduction Defect:

MGI Mouse Phenotypes related to Cardiac Conduction Defect:

Drugs & Therapeutics for Cardiac Conduction Defect

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

Interventional clinical trials:

Cochrane evidence based reviews: death, sudden, cardiac

Genetic Tests for Cardiac Conduction Defect

Genetic tests related to Cardiac Conduction Defect:

Anatomical Context for Cardiac Conduction Defect

MalaCards organs/tissues related to Cardiac Conduction Defect:

Publications for Cardiac Conduction Defect

Articles related to Cardiac Conduction Defect:

Genes for Cardiac Conduction Defect

Genes related to Cardiac Conduction Defect (3 elite genes):

Variations for Cardiac Conduction Defect

ClinVar genetic disease variations for Cardiac Conduction Defect:

Copy number variations for Cardiac Conduction Defect from CNVD:

Expression for Cardiac Conduction Defect

Pathways for Cardiac Conduction Defect

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

GO Terms for Cardiac Conduction Defect

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

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

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

Sources for Cardiac Conduction Defect