MCID: HRT008
MIFTS: 44

Heart Conduction Disease

Categories: Cardiovascular diseases

Aliases & Classifications for Heart Conduction Disease

MalaCards integrated aliases for Heart Conduction Disease:

Name: Heart Conduction Disease 12 15
Conduction Disorder of the Heart 29 6 71
Heart Rhythm Disorders 6
Heart Rhythm Disease 12

Classifications:



External Ids:

Disease Ontology 12 DOID:10273
ICD9CM 34 426.6
SNOMED-CT 67 195053008
UMLS 71 C0029630 C0264886

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

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:



Diseases related to Heart Conduction Disease

Symptoms & Phenotypes for Heart Conduction Disease

UMLS symptoms related to Heart Conduction Disease:


chest pain

MGI Mouse Phenotypes related to Heart Conduction Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.77 ACE AKAP10 CACNA1C CAPN3 DSP DTNA
2 muscle MP:0005369 9.36 CACNA1C CAPN3 DSP DTNA KCNH2 KCNQ1

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
1
Amiodarone Approved, Investigational 1951-25-3 2157
2 Calcium, Dietary
3 Cytochrome P-450 Enzyme Inhibitors
4 Sodium Channel Blockers
5 Diuretics, Potassium Sparing
6 N-(2-aminoethyl)-5-isoquinolinesulfonamide
7 Cytochrome P-450 CYP3A Inhibitors
8 Vasodilator Agents
9 Potassium Channel Blockers
10 Anti-Arrhythmia Agents
11
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
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

Genetic Tests for Heart Conduction Disease

Genetic tests related to Heart Conduction Disease:

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

Anatomical Context for Heart Conduction Disease

MalaCards organs/tissues related to Heart Conduction Disease:

40
Heart

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
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
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
15272897 2004
4
Severe bradycardia and bradypnea following vaginal oocyte retrieval: a possible toxic effect of paracervical mepivacaine. 61
10817882 2000

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

Expression for Heart Conduction Disease

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

Pathways for Heart Conduction Disease

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.27 SCN5A RYR2 MYH7 KCNQ1 CACNA1C
2 12.23 MIR21 MIR199A1 MIR133A1 MIR126
3
Show member pathways
12.23 SCN5A SCN3B RYR2 MYBPC3 KCNQ1 KCNH2
4
Show member pathways
11.92 RYR2 MYH7 MYBPC3 CACNA1C ACE
5 11.76 SCN5A SCN3B RYR2 KCNQ1 KCNH2
6 11.52 RYR2 MYH7 CACNA1C
7
Show member pathways
11.5 SCN5A SCN3B KCNQ1 CACNA1C
8 10.92 SCN5A SCN3B RYR2 KCNQ1 KCNH2 DSP

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 for Heart Conduction Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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