Heart Conduction Disease disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: HRT008 MIFTS: 44	Heart Conduction Disease Categories: Cardiovascular diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs Expand all tables

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Aliases & Classifications for Heart Conduction Disease

MalaCards integrated aliases for Heart Conduction Disease:

Name: Heart Conduction Disease ¹² ¹⁵

Conduction Disorder of the Heart ²⁹ ⁶ ⁷¹

Heart Rhythm Disorders ⁶

Heart Rhythm Disease ¹²

Classifications:

MalaCards categories:
Anatomical: Cardiovascular diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:10273

ICD9CM ³⁴ 426.6

SNOMED-CT ⁶⁷ 195053008

UMLS ⁷¹ C0029630 C0264886

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Summaries for Heart Conduction Disease

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

MalaCards based summary : Heart Conduction Disease, also known as conduction disorder of the heart, is related to progressive familial heart block, type ia and brugada syndrome, and has symptoms including chest pain An important gene associated with Heart Conduction Disease is SCN5A (Sodium Voltage-Gated Channel Alpha Subunit 5), and among its related pathways/superpathways are cGMP-PKG signaling pathway and MicroRNAs in cancer. The drugs Amiodarone and Calcium, Dietary have been mentioned in the context of this disorder. Affiliated tissues include heart, and related phenotypes are cardiovascular system and muscle

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Related Diseases for Heart Conduction Disease

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

(show top 50) (show all 157)

#	Related Disease	Score	Top Affiliating Genes
1	progressive familial heart block, type ia	32.8	SCN5A DSP
2	brugada syndrome	32.7	SCN5A SCN3B RYR2 MYH7 MYBPC3 KCNQ1-AS1
3	atrial fibrillation	32.7	SCN5A SCN3B RYR2 MYH7 MYBPC3 MIR199A1
4	progressive familial heart block	32.7	SCN5A RYR2 MYH7 MYBPC3 KCNQ1 KCNH2
5	catecholaminergic polymorphic ventricular tachycardia	32.7	SCN5A SCN3B RYR2 MYH7 MYBPC3 KCNQ1
6	short qt syndrome	32.7	SCN5A RYR2 KCNQ1OT1 KCNQ1-AS1 KCNQ1 KCNH2
7	atrioventricular block	32.7	SCN5A RYR2 MYH7 KCNQ1 KCNH2 CACNA1C
8	sinoatrial node disease	32.6	SCN5A SCN3B RYR2 KCNQ1 KCNH2 CACNA1C
9	atrial standstill 1	32.6	SCN5A RYR2 MYH7 MYBPC3 DSP ACE
10	cardiac arrhythmia	31.6	SCN5A SCN3B RYR2 KCNQ1OT1 KCNQ1-AS1 KCNQ1
11	syncope	31.4	SCN5A RYR2 KCNQ1 KCNH2
12	sick sinus syndrome	31.4	SCN5A SCN3B CACNA1C
13	ventricular fibrillation, paroxysmal familial, 1	31.4	SCN5A RYR2 KCNQ1 KCNH2 DSP CACNA1C
14	hypertrophic cardiomyopathy	31.3	SCN5A RYR2 MYH7 MYBPC3 MIR21 KCNQ1
15	wolff-parkinson-white syndrome	31.3	SCN5A MYH7 MYBPC3 KCNQ1
16	dilated cardiomyopathy	31.1	SCN5A RYR2 MYH7 MYBPC3 MIR199A1 KCNQ1
17	left ventricular noncompaction	31.1	SCN5A SCN3B RYR2 MYH7 MYBPC3 KCNQ1
18	cardiac conduction defect	31.1	SCN5A RYR2 MYH7 MYBPC3 KCNQ1 KCNH2
19	cardiac arrest	31.1	SCN5A RYR2 MYH7 MYBPC3 KCNQ1 KCNH2
20	congestive heart failure	31.0	SCN5A RYR2 MYH7 KCNQ1 CACNA1C ACE
21	arrhythmogenic right ventricular cardiomyopathy	31.0	SCN5A RYR2 MYH7 KCNH2 DSP CACNA1C
22	tetralogy of fallot	30.9	SCN5A RYR2 KCNH2 ACE
23	acute myocardial infarction	30.9	MIR21 MIR199A1 MIR126 KCNQ1OT1 ACE
24	heart valve disease	30.9	MIR21 MIR199A1 MIR126 ACE
25	hypokalemia	30.8	KCNQ1 KCNH2 ACE
26	atrial standstill 2	11.0
27	postural orthostatic tachycardia syndrome	11.0
28	long qt syndrome 1	10.9	SCN5A SCN3B RYR2 MYH7 MYBPC3 KCNQ1OT1
29	long qt syndrome	10.9	SCN5A SCN3B RYR2 MYH7 MYBPC3 MIR133A1
30	intrinsic cardiomyopathy	10.9	SCN5A RYR2 MYH7 MYBPC3 MIR21 MIR199A1
31	heart disease	10.9	SCN5A RYR2 MYH7 MYBPC3 MIR21 MIR199A1
32	familial atrial fibrillation	10.8	SCN5A SCN3B RYR2 MYH7 MIR133A1 KCNQ1OT1
33	lipoprotein quantitative trait locus	10.8	SCN5A RYR2 MYH7 MYBPC3 MIR21 MIR199A1
34	long qt syndrome 2	10.8	SCN5A SCN3B RYR2 MYH7 MYBPC3 KCNQ1
35	disease of mental health	10.8	SCN5A RYR2 MYBPC3 MIR21 MIR199A1 MIR126
36	ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	10.8	SCN5A RYR2 MYH7 KCNQ1 KCNH2 DTNA
37	cardiomyopathy, familial hypertrophic, 1	10.8	SCN5A RYR2 MYH7 MYBPC3 KCNH2 FLNC-AS1
38	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a	10.8	SCN5A MIR21 MIR199A1 MIR126 KCNQ1 KCNH2
39	long qt syndrome 3	10.8	SCN5A SCN3B RYR2 KCNQ1 KCNH2 CACNA1C
40	noonan syndrome with multiple lentigines	10.8	SCN5A RYR2 MYH7 MYBPC3 KCNQ1 KCNH2
41	familial long qt syndrome	10.8	SCN5A KCNQ1OT1 KCNQ1-AS1 KCNQ1 KCNH2 DSP
42	jervell and lange-nielsen syndrome 1	10.8	SCN5A KCNQ1OT1 KCNQ1-AS1 KCNQ1 KCNH2 CACNA1C
43	myocardial infarction	10.8	SCN5A MYH7 MIR21 MIR199A1 MIR133A1 MIR126
44	rasopathy	10.8	SCN5A RYR2 MYH7 MYBPC3 KCNQ1 KCNH2
45	restrictive cardiomyopathy	10.7	MYH7 MYBPC3 FLNC-AS1 DSP CACNA1C ACE
46	andersen cardiodysrhythmic periodic paralysis	10.7	SCN5A RYR2 KCNQ1 KCNH2 CACNA1C
47	timothy syndrome	10.7	SCN5A RYR2 KCNQ1 KCNH2 CACNA1C
48	cardiac arrhythmia, ankyrin-b-related	10.7	SCN5A RYR2 KCNQ1 KCNH2 CACNA1C
49	aortic valve disease 2	10.7	MYH7 MYBPC3 MIR21 MIR199A1 MIR126 ACE
50	congenital myasthenic syndrome	10.7	SCN5A RYR2 MYH7 KCNQ1 KCNH2 CACNA1C

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

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Symptoms & Phenotypes for Heart Conduction Disease

UMLS symptoms related to Heart Conduction Disease:

chest pain

MGI Mouse Phenotypes related to Heart Conduction Disease:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	9.77	ACE AKAP10 CACNA1C CAPN3 DSP DTNA
2	muscle	MP:0005369	9.36	CACNA1C CAPN3 DSP DTNA KCNH2 KCNQ1

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Drugs & Therapeutics for Heart Conduction Disease

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

(show all 11)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Amiodarone

Approved, Investigational

1951-25-3

2157

Synonyms:

(2-{4-[(2-butyl-1-benzofuran-3-yl)carbonyl]-2,6-diiodophenoxy}ethyl)diethylamine

(2-butyl-1-benzofuran-3-yl)(4-{[2-(diethylamino)ethyl]oxy}-3,5-diiodophenyl)methanone

(2-butyl-1-benzofuran-3-yl)-[4-(2-diethylaminoethyloxy)-3,5-diiodophenyl]methanone

(2-butyl-1-benzofuran-3-yl){4-[2-(diethylamino)ethoxy]-3,5-diiodophenyl}methanone

(2-Butyl-3-benzofuranyl)(4-(2-(diethylamino)ethoxy)-3,5-diidophenyl)methanone

(2-butylbenzofuran-3-yl)-[4-(2-diethylaminoethoxy)-3,5-diiodo-phenyl]-methanone

1951-25-3

2-Butyl-3-(3,5-diiodo-4-(2-diethylaminoethoxy)benzoyl)benzofuran

2-Butyl-3-(3,5-diiodo-4-(beta-diethylaminoethoxy)benzoyl)benzofuran

2-Butyl-3-(4'-beta-N-diethylaminoethoxy-3',5'-diiodobenzoyl)benzofuran

2-Butyl-3-[3,5-diiodo-4-(2-di

2-Butyl-3-benzofuranyl 4-(2-(diethylamino)ethoxy)-3,5-diiodophenyl ketone

2-Butyl-3-benzofuranyl p-((2-diethylamino)ethoxy)-m,m-diiodophenyl ketone

2-Butyl-3-benzofuranyl p-[(2-diethylamino)ethoxy]-m,m-diiodophenyl ketone

2-n-Butyl-3',5'-diiodo-4'-N-diethylaminoethoxy-3-benzoylbenzofuran

2-N-Butyl-3',5'-diiodo-4'-N-diethylaminoethoxy-3-benzoylbenzofuran

5-18-02-00353 (Beilstein Handbook Reference)

AB00053422

AC1L1D1R

AC1Q2VCU

Alphapharm brand OF amiodarone hydrochloride

Alphapharm Brand of Amiodarone Hydrochloride

Amidorone

Aminodarone

Amio-Aqueous IV

Amiobeta

Amiodarex

Amiodarona

Amiodarona [INN-Spanish]

amiodarone

Amiodarone

Amiodarone (USAN/INN)

Amiodarone [USAN:BAN:INN]

Amiodarone base

Amiodarone Base

Amiodarone HCL

Amiodarone hydrochloride

Amiodarone Hydrochloride

Amiodarons

Amiodaronum

Amiodaronum [INN-Latin]

Amiohexal

Amjodaronum

Ancar

Aratac

Armstrong brand OF amiodarone hydrochloride

Armstrong Brand of Amiodarone Hydrochloride

Arycor

ASTA medica brand OF amiodarone hydrochloride

ASTA Medica Brand of Amiodarone Hydrochloride

Berenguer infale brand OF amiodarone hydrochloride

Berenguer Infale Brand of Amiodarone Hydrochloride

Betapharm brand OF amiodarone hydrochloride

Betapharm Brand of Amiodarone Hydrochloride

BIDD:GT0425

BIDD:PXR0146

Bio1_000026

Bio1_000515

Bio1_001004

Bio2_000294

Bio2_000774

BPBio1_000372

Braxan

BRN 1271711

BSPBio_000338

BSPBio_001574

BSPBio_002580

C06823

C25H29I2NO3

CAS-19774-82-4

CBiol_001740

CHEBI:2663

CHEMBL633

CID2157

Corbionax

Cordarex

Cordarone

Cordarone Intravenous

D000638

D02910

DB01118

DivK1c_000079

EINECS 217-772-1

ethylaminoethoxy)benzoyl]benzofuran

g Gam brand OF amiodarone hydrochloride

G Gam Brand of Amiodarone Hydrochloride

Hexal brand OF amiodarone hydrochloride

Hexal Brand of Amiodarone Hydrochloride

HMS1791O16

HMS1989O16

HMS2089C07

Hydrochloride, amiodarone

IDI1_000079

IDI1_034044

KBio1_000079

KBio2_000294

KBio2_000741

KBio2_002862

KBio2_003309

KBio2_005430

KBio2_005877

KBio3_000587

KBio3_000588

KBio3_001800

KBioGR_000294

KBioGR_001859

KBioSS_000294

KBioSS_000741

Ketone, 2-butyl-3-benzofuranyl 4-(2-(diethylamino)ethoxy)-3,5-diiodophenyl

Ketone, 2-butyl-3-benzofuranyl 4-[2-(diethylamino)ethoxy]-3,5-diiodophenyl (7CI,8CI)

Kordaron

L 3428

L001174

L3428

L-3428

Labaz

Leurquin brand OF amiodarone hydrochloride

Leurquin Brand of Amiodarone Hydrochloride

Lopac0_000122

Lopac-A-8423

LS-87088

MolPort-003-703-670

NCGC00015096-01

NCGC00015096-02

NCGC00015096-03

NCGC00015096-10

NCGC00024242-03

NCGC00024242-04

NCGC00024242-05

NCGC00024242-06

nchembio.79-comp9

nchembio732-comp1

NCI60_041885

NINDS_000079

Ortacrone

Pacerone

Pharma investi brand OF amiodarone hydrochloride

Pharma Investi Brand of Amiodarone Hydrochloride

pms-Amiodarone

Prestwick0_000409

Prestwick1_000409

Prestwick2_000409

Prestwick3_000409

QTL1_000008

Rytmarone

Sanofi winthrop brand OF amiodarone hydrochloride

Sanofi Winthrop Brand of Amiodarone Hydrochloride

Sedacoron

Sedacorone

SKF 33134 a

SKF 33134-a

SKF 33134A

SKF 33134-A

SPBio_001825

SPBio_002277

Spectrum_000261

Spectrum2_001813

Spectrum3_001050

Spectrum4_001190

Spectrum5_001533

STK529812

STOCK1S-12240

Tachydaron

Trangorex

UNII-N3RQ532IUT

UNM000001215003

Wyeth brand OF amiodarone hydrochloride

Wyeth Brand of Amiodarone Hydrochloride

Calcium, Dietary

Cytochrome P-450 Enzyme Inhibitors

Sodium Channel Blockers

Diuretics, Potassium Sparing

N-(2-aminoethyl)-5-isoquinolinesulfonamide

Cytochrome P-450 CYP3A Inhibitors

Vasodilator Agents

Potassium Channel Blockers

Anti-Arrhythmia Agents

Calcium

Nutraceutical

7440-70-2

271

Synonyms:

Ca(2+)

Ca2+

Calcio

Calcium

Calcium element

CALCIUM ion

Calcium(2+)

Calcium, doubly charged positive ion

Calcium, elemental

Elemental calcium

Kalzium

Interventional clinical trials:

#	Name	Status	NCT ID
1	Panorama 2 Medtronic CRDM Implantable Cardiac Device Long Term Registry	Completed	NCT01723566
2	Obstructive Sleep Apnea Destabilizes Myocardial Repolarization Homogeneity	Completed	NCT04621032
3	Screening of Patients With Suspected Heart Rhythm Disorder on Primary Health Care Level With the Use of Personal Digital ECG Sensor	Completed	NCT04463524
4	Population Pharmacokinetics and Pharmacodynamics of Amiodarone in Children": PK-AMIO	Recruiting	NCT03842020
5	Hearts in Rhythm Organization (HiRO)National Registry and Bio Bank: Improving Detection and Treatment of Inherited Heart Rhythm Disorders to Prevent Sudden Death	Enrolling by invitation	NCT04189822

Search NIH Clinical Center for Heart Conduction Disease

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Genetic Tests for Heart Conduction Disease

Genetic tests related to Heart Conduction Disease:

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

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Anatomical Context for Heart Conduction Disease

MalaCards organs/tissues related to Heart Conduction Disease:

⁴⁰

Heart

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Publications for Heart Conduction Disease

Articles related to Heart Conduction Disease:

#	Title	Authors	PMID	Year
1	Generation of a TBX5 homozygous knockout embryonic stem cell line (WAe009-A-45) by CRISPR/Cas9 genome editing. ⁶¹	Zhao T...Zhang J	33497883	2021
2	Using multiple databases to produce comprehensive follow-up in an effort to enhance evaluation of outcome measurements: surgical ablation (Maze) exemplar. ⁶¹	Hunt S...Ad N	22251160	2011
3	The screening for X-linked Emery-Dreifuss muscular dystrophy amongst young patients with idiopathic heart conduction system disease treated by a pacemaker implant. ⁶¹	Vytopil M...Lukas Z	15272897	2004
4	Severe bradycardia and bradypnea following vaginal oocyte retrieval: a possible toxic effect of paracervical mepivacaine. ⁶¹	Ayestaran C...Rodriguez-Escudero F	10817882	2000

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Genes for Heart Conduction Disease

Genes related to Heart Conduction Disease (9 elite genes):

(show top 50) (show all 150)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	SCN5A	Sodium Voltage-Gated Channel Alpha Subunit 5	Protein Coding	434.91	Pathogenic ⁶ Likely pathogenic ⁶ DISEASES inferred ¹⁵
2	KCNH2	Potassium Voltage-Gated Channel Subfamily H Member 2	Protein Coding	433.78	Pathogenic ⁶ Likely pathogenic ⁶ DISEASES inferred ¹⁵
3	KCNQ1	Potassium Voltage-Gated Channel Subfamily Q Member 1	Protein Coding	433.66	Pathogenic ⁶ Likely pathogenic ⁶ DISEASES inferred ¹⁵
4	SCN3B	Sodium Voltage-Gated Channel Beta Subunit 3	Protein Coding	407.66	Pathogenic ⁶ DISEASES inferred ¹⁵
5	MYBPC3	Myosin Binding Protein C3	Protein Coding	407.45	Pathogenic ⁶ DISEASES inferred ¹⁵
6	DSP	Desmoplakin	Protein Coding	406.64	Pathogenic ⁶ DISEASES inferred ¹⁵
7	CAPN3	Calpain 3	Protein Coding	404.33	Pathogenic ⁶ DISEASES inferred ¹⁵
8	KCNQ1OT1	KCNQ1 Opposite Strand/Antisense Transcript 1	RNA Gene	403.33	Pathogenic ⁶ DISEASES inferred ¹⁵
9	AKAP10	A-Kinase Anchoring Protein 10	Protein Coding	104.16	Genetic Tests ²⁹ DISEASES inferred ¹⁵
10	RYR2	Ryanodine Receptor 2	Protein Coding	34.43	Likely pathogenic ⁶ DISEASES inferred ¹⁵
11	CACNA1C	Calcium Voltage-Gated Channel Subunit Alpha1 C	Protein Coding	33.44	Likely pathogenic ⁶ DISEASES inferred ¹⁵
12	MYH7	Myosin Heavy Chain 7	Protein Coding	32.28	Likely pathogenic ⁶ DISEASES inferred ¹⁵
13	DTNA	Dystrobrevin Alpha	Protein Coding	29.12	Likely pathogenic ⁶ DISEASES inferred ¹⁵
14	FLNC-AS1	FLNC Antisense RNA 1	RNA Gene	25	Likely pathogenic ⁶
15	KCNQ1-AS1	KCNQ1 Antisense RNA 1	RNA Gene	25	Likely pathogenic ⁶
16	MIR199A1	MicroRNA 199a-1	RNA Gene	12.22	DISEASES inferred ¹⁵ ¹⁵ ¹⁵
17	MIR133A1	MicroRNA 133a-1	RNA Gene	9.88	DISEASES inferred ¹⁵ ¹⁵
18	MIR21	MicroRNA 21	RNA Gene	9.49	DISEASES inferred ¹⁵ ¹⁵
19	ACE	Angiotensin I Converting Enzyme	Protein Coding	9.28	DISEASES inferred ¹⁵
20	MIR126	MicroRNA 126	RNA Gene	8.84	DISEASES inferred ¹⁵ ¹⁵
21	CRP	C-Reactive Protein	Protein Coding	8.7	DISEASES inferred ¹⁵
22	GJA5	Gap Junction Protein Alpha 5	Protein Coding	8.67	DISEASES inferred ¹⁵
23	NPPB	Natriuretic Peptide B	Protein Coding	8.67	DISEASES inferred ¹⁵
24	CASQ2	Calsequestrin 2	Protein Coding	8.65	DISEASES inferred ¹⁵
25	HCN4	Hyperpolarization Activated Cyclic Nucleotide Gated Potassium Channel 4	Protein Coding	8.58	DISEASES inferred ¹⁵
26	MIR150	MicroRNA 150	RNA Gene	8.5	DISEASES inferred ¹⁵ ¹⁵
27	REN	Renin	Protein Coding	8.43	DISEASES inferred ¹⁵
28	F2	Coagulation Factor II, Thrombin	Protein Coding	8.4	DISEASES inferred ¹⁵
29	KCNJ2	Potassium Inwardly Rectifying Channel Subfamily J Member 2	Protein Coding	8.37	DISEASES inferred ¹⁵
30	KCNA5	Potassium Voltage-Gated Channel Subfamily A Member 5	Protein Coding	8.36	DISEASES inferred ¹⁵
31	MIR423	MicroRNA 423	RNA Gene	8.35	DISEASES inferred ¹⁵ ¹⁵
32	KCNE1	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 1	Protein Coding	8.31	DISEASES inferred ¹⁵
33	H2AC18	H2A Clustered Histone 18	Protein Coding	8.3	DISEASES inferred ¹⁵ ¹⁵
34	GJA1	Gap Junction Protein Alpha 1	Protein Coding	8.29	DISEASES inferred ¹⁵
35	TNNI3	Troponin I3, Cardiac Type	Protein Coding	8.26	DISEASES inferred ¹⁵
36	MIR146A	MicroRNA 146a	RNA Gene	8.26	DISEASES inferred ¹⁵ ¹⁵
37	KCND3	Potassium Voltage-Gated Channel Subfamily D Member 3	Protein Coding	8.18	DISEASES inferred ¹⁵
38	MIR483	MicroRNA 483	RNA Gene	8.07	DISEASES inferred ¹⁵ ¹⁵
39	F3	Coagulation Factor III, Tissue Factor	Protein Coding	8.04	DISEASES inferred ¹⁵
40	VKORC1	Vitamin K Epoxide Reductase Complex Subunit 1	Protein Coding	7.99	DISEASES inferred ¹⁵
41	TNNT2	Troponin T2, Cardiac Type	Protein Coding	7.97	DISEASES inferred ¹⁵
42	KCNE2	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 2	Protein Coding	7.97	DISEASES inferred ¹⁵
43	TRDN	Triadin	Protein Coding	7.96	DISEASES inferred ¹⁵
44	TTR	Transthyretin	Protein Coding	7.94	DISEASES inferred ¹⁵
45	FKBP1B	FKBP Prolyl Isomerase 1B	Protein Coding	7.86	DISEASES inferred ¹⁵
46	TRIM21	Tripartite Motif Containing 21	Protein Coding	7.86	DISEASES inferred ¹⁵
47	PLG	Plasminogen	Protein Coding	7.86	DISEASES inferred ¹⁵
48	P2RY12	Purinergic Receptor P2Y12	Protein Coding	7.83	DISEASES inferred ¹⁵
49	F10	Coagulation Factor X	Protein Coding	7.79	DISEASES inferred ¹⁵
50	SCN1B	Sodium Voltage-Gated Channel Beta Subunit 1	Protein Coding	7.78	DISEASES inferred ¹⁵

Sources

Variations for Heart Conduction Disease

ClinVar genetic disease variations for Heart Conduction Disease:

⁶ (show top 50) (show all 1838)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	DSP	NM_004415.4(DSP):c.1054_1059delinsCA (p.Asp352fs)	Indel	Pathogenic	418788	rs1064793435	6:7567596-7567601	6:7567363-7567368
2	SCN3B	NM_018400.3(SCN3B):c.423C>G (p.Ile141Met)	SNV	Pathogenic	224720	rs879253730	11:123513176-123513176	11:123642468-123642468
3	DSP	NM_004415.4(DSP):c.2528C>A (p.Ser843Ter)	SNV	Pathogenic	374137	rs1057518920	6:7575619-7575619	6:7575386-7575386
4	KCNQ1	NM_000218.3(KCNQ1):c.1043_1054delinsCA (p.Gly348fs)	Indel	Pathogenic	919956		11:2606452-2606463	11:2585222-2585233
5	KCNQ1	NM_000218.3(KCNQ1):c.1356del (p.Leu453fs)	Deletion	Pathogenic	922607		11:2610046-2610046	11:2588816-2588816
6	KCNH2	NM_000238.3(KCNH2):c.3096_3099dup (p.Pro1034fs)	Duplication	Pathogenic	200699	rs794728467	7:150644468-150644469	7:150947380-150947381
7	KCNH2	NM_000238.3(KCNH2):c.2892del (p.Gly965fs)	Deletion	Pathogenic	418247	rs794728462	7:150644767-150644767	7:150947679-150947679
8	SCN5A	NM_000335.5(SCN5A):c.3595dup (p.His1199fs)	Duplication	Pathogenic	924057		3:38616855-38616856	3:38575364-38575365
9	SCN5A	NM_000335.5(SCN5A):c.127C>T (p.Arg43Ter)	SNV	Pathogenic	924596		3:38674672-38674672	3:38633181-38633181
10	KCNQ1	NM_000218.3(KCNQ1):c.1330del (p.Thr444fs)	Deletion	Pathogenic	925351		11:2610021-2610021	11:2588791-2588791
11	KCNQ1OT1	NM_000218.3(KCNQ1):c.1443_1461dup (p.Asp488fs)	Duplication	Pathogenic	926196		11:2683236-2683237	11:2662006-2662007
12	SCN5A	NM_000335.5(SCN5A):c.189del (p.Lys63fs)	Deletion	Pathogenic	928434		3:38674610-38674610	3:38633119-38633119
13	CAPN3	NM_000070.3(CAPN3):c.1322del (p.Gly441fs)	Deletion	Pathogenic	281062	rs1555421871	15:42691815-42691815	15:42399617-42399617
14	SCN5A	NM_198056.2(SCN5A):c.1100G>A (p.Arg367His)	SNV	Pathogenic	9390	rs28937318	3:38648200-38648200	3:38606709-38606709
15	KCNQ1	NM_181798.1(KCNQ1):c.96+1G>A	SNV	Pathogenic	200874	rs762814879	11:2549249-2549249	11:2528019-2528019
16	KCNQ1	NM_181798.1(KCNQ1):c.121G>A (p.Gly41Arg)	SNV	Pathogenic	53052	rs179489	11:2591882-2591882	11:2570652-2570652
17	KCNH2	NM_172057.2(KCNH2):c.1765dup (p.Glu589fs)	Duplication	Pathogenic	200678	rs794728458	7:150644873-150644874	7:150947785-150947786
18	KCNQ1	NM_181798.1(KCNQ1):c.1385G>A (p.Gly462Asp)	SNV	Pathogenic	3140	rs120074190	11:2799239-2799239	11:2778009-2778009
19	KCNQ1	NM_181798.1(KCNQ1):c.188G>A (p.Arg63Gln)	SNV	Pathogenic	3117	rs120074178	11:2591949-2591949	11:2570719-2570719
20	SCN5A	NM_000335.4(SCN5A):c.2548_2549GT[3] (p.Phe851fs)	Microsatellite	Pathogenic	201560	rs397514450	3:38627417-38627418	3:38585926-38585927
21	KCNQ1	NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter)	SNV	Pathogenic	3131	rs17215500	11:2790111-2790111	11:2768881-2768881
22	KCNH2	NM_172057.2(KCNH2):c.1939_1940del (p.Leu647fs)	Deletion	Pathogenic	200693	rs748706373	7:150644699-150644700	7:150947611-150947612
23	KCNH2	NM_172057.2(KCNH2):c.1755dup (p.Pro586fs)	Duplication	Pathogenic	200672	rs794728455	7:150644883-150644884	7:150947795-150947796
24	KCNQ1	NM_181798.1(KCNQ1):c.884del (p.Lys295fs)	Deletion	Pathogenic	52973	rs397508083	11:2609949-2609949	11:2588719-2588719
25	KCNQ1	NM_181798.1(KCNQ1):c.481_499del (p.Val161fs)	Deletion	Pathogenic	53119	rs397508129	11:2594153-2594171	11:2572923-2572941
26	KCNQ1	NM_181798.1(KCNQ1):c.349C>T (p.Gln117Ter)	SNV	Pathogenic	519369	rs1554893091	11:2593289-2593289	11:2572059-2572059
27	KCNQ1	NM_181798.1(KCNQ1):c.1282C>T (p.Arg428Cys)	SNV	Pathogenic	3126	rs120074185	11:2797262-2797262	11:2776032-2776032
28	SCN5A	NM_198056.2(SCN5A):c.4867C>T (p.Arg1623Ter)	SNV	Pathogenic	9374	rs137854613	3:38592996-38592996	3:38551505-38551505
29	KCNQ1	NM_181798.1(KCNQ1):c.694C>T (p.Gln232Ter)	SNV	Pathogenic	52950	rs397508075	11:2606484-2606484	11:2585254-2585254
30	KCNH2	NM_000238.4(KCNH2):c.3002G>A (p.Trp1001Ter)	SNV	Pathogenic	200513	rs794728401	7:150644566-150644566	7:150947478-150947478
31	KCNQ1	NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter)	SNV	Pathogenic	3131	rs17215500	11:2790111-2790111	11:2768881-2768881
32	CAPN3	NM_000070.3(CAPN3):c.550del (p.Thr184fs)	Deletion	Pathogenic	17621	rs80338800	15:42680001-42680001	15:42387803-42387803
33	MYBPC3	NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn)	SNV	Pathogenic	36604	rs36211723	11:47360071-47360071	11:47338520-47338520
34	KCNQ1	NM_181798.1(KCNQ1):c.1207C>T (p.Gln403Ter)	SNV	Pathogenic	52996	rs397508097	11:2790147-2790147	11:2768917-2768917
35	KCNQ1	NM_181798.1(KCNQ1):c.910dup (p.Val304fs)	Duplication	Pathogenic	52975	rs397508085	11:2609978-2609979	11:2588748-2588749
36	SCN5A	NM_198056.2(SCN5A):c.4859C>T (p.Thr1620Met)	SNV	Likely pathogenic	67932	rs199473282	3:38593004-38593004	3:38551513-38551513
37	KCNQ1	NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu)	SNV	Likely pathogenic	53083	rs199473456	11:2592624-2592624	11:2571394-2571394
38	KCNQ1	NM_181798.1(KCNQ1):c.1256C>T (p.Ser419Leu)	SNV	Likely pathogenic	53000	rs199473480	11:2797236-2797236	11:2776006-2776006
39	MYH7	NM_000257.4(MYH7):c.345+1G>A	SNV	Likely pathogenic	862006		14:23902292-23902292	14:23433083-23433083
40	SCN5A	NM_198056.2(SCN5A):c.1127G>A (p.Arg376His)	SNV	Likely pathogenic	67639	rs199473101	3:38648173-38648173	3:38606682-38606682
41	KCNQ1	NM_181798.1(KCNQ1):c.176G>A (p.Gly59Asp)	SNV	Likely pathogenic	207967	rs794728568	11:2591937-2591937	11:2570707-2570707
42	SCN5A	NM_000335.4(SCN5A):c.673C>T (p.Arg225Trp)	SNV	Likely pathogenic	68032	rs199473072	3:38655264-38655264	3:38613773-38613773
43	KCNQ1-AS1	NM_181798.1(KCNQ1):c.1512del (p.Arg505fs)	Deletion	Likely pathogenic	53026	rs397508104	11:2869089-2869089	11:2847859-2847859
44	KCNQ1-AS1	NM_181798.1(KCNQ1):c.1512dup (p.Arg505fs)	Duplication	Likely pathogenic	53027	rs397508104	11:2869088-2869089	11:2847858-2847859
45	KCNQ1	NM_181798.1(KCNQ1):c.1319T>C (p.Ile440Thr)	SNV	Likely pathogenic	53007	rs199472805	11:2798230-2798230	11:2777000-2777000
46	KCNQ1	NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser)	SNV	Likely pathogenic	53063	rs199473394	11:2591915-2591915	11:2570685-2570685
47	KCNQ1	NM_181798.1(KCNQ1):c.188G>T (p.Arg63Leu)	SNV	Likely pathogenic	67084	rs120074178	11:2591949-2591949	11:2570719-2570719
48	KCNH2	NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser)	SNV	Likely pathogenic	67261	rs199473428	7:150648731-150648731	7:150951643-150951643
49	KCNQ1	NM_181798.1(KCNQ1):c.139C>T (p.Arg47Cys)	SNV	Likely pathogenic	53058	rs199472696	11:2591900-2591900	11:2570670-2570670
50	KCNQ1	NM_181798.1(KCNQ1):c.554C>T (p.Thr185Ile)	SNV	Likely pathogenic	3116	rs120074182	11:2604678-2604678	11:2583448-2583448

Sources

Expression for Heart Conduction Disease

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

Sources

Pathways for Heart Conduction Disease

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

#	Super pathways	Score	Top Affiliating Genes
1	cGMP-PKG signaling pathway ³⁶ Show member pathways Adrenergic signaling in cardiomyocytes ³⁶	12.27	SCN5A RYR2 MYH7 KCNQ1 CACNA1C
2	MicroRNAs in cancer ³⁶	12.23	MIR21 MIR199A1 MIR133A1 MIR126
3	Cardiac conduction ⁶⁵ Show member pathways Classical Kir channels ⁶⁵ Ion homeostasis ⁶⁵ Ion transport by P-type ATPases ⁶⁵ Muscle contraction ⁶⁵ Phase 1 - inactivation of fast Na+ channels ⁶⁵ Phase 3 - rapid repolarisation ⁶⁵ Phase 4 - resting membrane potential ⁶⁵ Physiological factors ⁶⁵ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁵ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁵ Tandem pore domain potassium channels ⁶⁵ TWIK related potassium channel (TREK) ⁶⁵ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁵ TWIK-related spinal cord K+ channel (TRESK) ⁶⁵ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁵	12.23	SCN5A SCN3B RYR2 MYBPC3 KCNQ1 KCNH2
4	Dilated cardiomyopathy ³⁶ Show member pathways Hypertrophic cardiomyopathy ³⁶	11.92	RYR2 MYH7 MYBPC3 CACNA1C ACE
5	Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways ¹	11.76	SCN5A SCN3B RYR2 KCNQ1 KCNH2
6	Cardiac muscle contraction ³⁶	11.52	RYR2 MYH7 CACNA1C
7	Phase 0 - rapid depolarisation ⁶⁵ Show member pathways Phase 2 - plateau phase ⁶⁵	11.5	SCN5A SCN3B KCNQ1 CACNA1C
8	Antiarrhythmic Pathway, Pharmacodynamics ⁶⁰	10.92	SCN5A SCN3B RYR2 KCNQ1 KCNH2 DSP

Sources

GO Terms for Heart Conduction Disease

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

#	Name	GO ID	Score	Top Affiliating Genes
1	sarcomere	GO:0030017	9.43	RYR2 MYH7 MYBPC3
2	myosin filament	GO:0032982	9.37	MYH7 MYBPC3
3	T-tubule	GO:0030315	9.33	SCN5A CAPN3 CACNA1C
4	voltage-gated sodium channel complex	GO:0001518	9.32	SCN5A SCN3B
5	sarcolemma	GO:0042383	9.26	SCN5A RYR2 DTNA CACNA1C
6	Z disc	GO:0030018	9.1	SCN5A SCN3B RYR2 MYH7 CAPN3 CACNA1C

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

(show all 37)

#	Name	GO ID	Score	Top Affiliating Genes
1	ion transport	GO:0006811	10.06	SCN5A SCN3B RYR2 KCNQ1 KCNH2 CACNA1C
2	ion transmembrane transport	GO:0034220	9.97	SCN5A SCN3B RYR2 KCNH2
3	regulation of ion transmembrane transport	GO:0034765	9.83	SCN5A SCN3B KCNQ1 KCNH2 CACNA1C
4	negative regulation of cardiac muscle cell apoptotic process	GO:0010667	9.73	MIR21 MIR199A1 MIR133A1
5	regulation of heart rate	GO:0002027	9.71	SCN5A RYR2 MYH7
6	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	GO:0010881	9.7	RYR2 MIR133A1 CACNA1C
7	positive regulation of heart rate	GO:0010460	9.69	SCN3B RYR2 KCNQ1
8	negative regulation of low-density lipoprotein particle clearance	GO:0010989	9.67	MIR199A1 MIR133A1
9	negative regulation of delayed rectifier potassium channel activity	GO:1902260	9.67	MIR133A1 KCNQ1
10	membrane depolarization during action potential	GO:0086010	9.67	SCN5A SCN3B KCNH2
11	positive regulation of sodium ion transport	GO:0010765	9.66	SCN5A SCN3B
12	striated muscle contraction	GO:0006941	9.66	MYH7 DTNA
13	potassium ion export across plasma membrane	GO:0097623	9.65	KCNQ1 KCNH2
14	positive regulation of potassium ion transmembrane transport	GO:1901381	9.65	KCNQ1 KCNH2
15	cell communication by electrical coupling involved in cardiac conduction	GO:0086064	9.65	RYR2 CACNA1C
16	cardiac muscle cell action potential involved in contraction	GO:0086002	9.65	SCN5A SCN3B CACNA1C
17	cardiac conduction	GO:0061337	9.65	SCN5A SCN3B KCNQ1 KCNH2 CACNA1C
18	calcium ion transport into cytosol	GO:0060402	9.64	RYR2 CACNA1C
19	cellular response to epinephrine stimulus	GO:0071872	9.64	RYR2 KCNQ1
20	membrane repolarization during ventricular cardiac muscle cell action potential	GO:0098915	9.63	KCNQ1 KCNH2
21	membrane repolarization	GO:0086009	9.63	KCNQ1 KCNH2
22	membrane depolarization during cardiac muscle cell action potential	GO:0086012	9.63	SCN5A SCN3B CACNA1C
23	regulation of membrane repolarization	GO:0060306	9.62	KCNQ1 KCNH2
24	membrane repolarization during cardiac muscle cell action potential	GO:0086013	9.62	KCNQ1 KCNH2
25	regulation of ventricular cardiac muscle cell membrane repolarization	GO:0060307	9.62	SCN5A MIR133A1 KCNQ1 KCNH2
26	membrane repolarization during action potential	GO:0086011	9.61	KCNQ1 KCNH2
27	regulation of atrial cardiac muscle cell membrane depolarization	GO:0060371	9.61	SCN5A SCN3B
28	regulation of ventricular cardiac muscle cell membrane depolarization	GO:0060373	9.6	SCN5A SCN3B
29	regulation of atrial cardiac muscle cell membrane repolarization	GO:0060372	9.59	SCN5A KCNQ1
30	membrane depolarization during AV node cell action potential	GO:0086045	9.58	SCN5A CACNA1C
31	regulation of ventricular cardiac muscle cell action potential	GO:0098911	9.58	RYR2 DSP CACNA1C
32	SA node cell action potential	GO:0086015	9.57	SCN5A SCN3B
33	membrane depolarization during atrial cardiac muscle cell action potential	GO:0098912	9.55	SCN5A CACNA1C
34	ventricular cardiac muscle cell action potential	GO:0086005	9.55	SCN5A SCN3B RYR2 KCNQ1 KCNH2
35	atrial cardiac muscle cell action potential	GO:0086014	9.54	SCN5A SCN3B KCNQ1
36	regulation of heart rate by cardiac conduction	GO:0086091	9.43	SCN5A SCN3B KCNQ1 KCNH2 DSP CACNA1C
37	cardiac muscle contraction	GO:0060048	9.17	SCN5A SCN3B RYR2 MYH7 MYBPC3 KCNQ1

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

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	mRNA binding involved in posttranscriptional gene silencing	GO:1903231	9.8	MIR21 MIR199A1 MIR133A1 MIR126
2	calmodulin binding	GO:0005516	9.65	SCN5A RYR2 MYH7 KCNQ1 CACNA1C
3	ion channel binding	GO:0044325	9.62	SCN5A SCN3B RYR2 KCNQ1
4	ion channel activity	GO:0005216	9.55	SCN5A RYR2 KCNQ1 KCNH2 CACNA1C
5	protein kinase A catalytic subunit binding	GO:0034236	9.48	RYR2 KCNQ1
6	titin binding	GO:0031432	9.46	MYBPC3 CAPN3
7	voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	GO:1902282	9.43	KCNQ1 KCNH2
8	voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization	GO:0086008	9.4	KCNQ1 KCNH2
9	voltage-gated sodium channel activity involved in cardiac muscle cell action potential	GO:0086006	9.37	SCN5A SCN3B
10	scaffold protein binding	GO:0097110	9.26	SCN5A KCNQ1 KCNH2 DSP
11	voltage-gated ion channel activity	GO:0005244	9.02	SCN5A SCN3B KCNQ1 KCNH2 CACNA1C

Sources

Sources for Heart Conduction Disease

¹ BioSystems

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⁷⁴ Wikipedia