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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Heart Block
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Accession:DOID:9003163 term browser browse the term
Definition:Impaired conduction of cardiac impulse that can occur anywhere along the conduction pathway, such as between the SINOATRIAL NODE and the right atrium (SA block) or between atria and ventricles (AV block). Heart blocks can be classified by the duration, frequency, or completeness of conduction block. Reversibility depends on the degree of structural or functional defects.
Synonyms:exact_synonym: A V Dissociation;   A-V Dissociations;   Atrioventricular Dissociation;   Atrioventricular Dissociations;   Auriculo Ventricular Dissociation;   Auriculo-Ventricular Dissociations;   CONDUCTION DISORDER OF THE HEART;   Heart Blocks
 primary_id: MESH:D006327;   RDO:0001049
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Heart Block term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Conduction disorder of the heart ClinVar PMID:23861362, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 4:176,806,098...176,928,540
Ensembl chr 4:176,805,431...176,922,424
JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Conduction disorder of the heart ClinVar PMID:7485162, PMID:12571597, PMID:15178757, PMID:16253912, PMID:16650839, PMID:17242276, PMID:17928548, PMID:17940615, PMID:18832177, PMID:19394342, PMID:22411828, PMID:22581653, PMID:23174487, PMID:23396983, PMID:23631430, PMID:23861362, PMID:24025405, PMID:24033266, PMID:24981977, PMID:25351510, PMID:25741868, PMID:26159999, PMID:26350513, PMID:28074886, PMID:28492532, PMID:29198934, PMID:29247119, PMID:29431110, PMID:29790872 NCBI chr 2:231,224,643...231,522,655
Ensembl chr 2:231,226,949...231,648,122
JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Conduction disorder of the heart ClinVar PMID:25741868 NCBI chr 4:150,635,808...151,270,790
Ensembl chr 4:150,641,066...150,829,913
JBrowse link
G Cacna1d calcium voltage-gated channel subunit alpha1 D ISO CTD Direct Evidence: marker/mechanism CTD PMID:26831068 NCBI chr16:6,110,294...6,405,022
Ensembl chr16:6,112,150...6,405,117
JBrowse link
G Casq2 calsequestrin 2 ISO ClinVar Annotator: match by term: Conduction disorder of the heart ClinVar PMID:25741868 NCBI chr 2:204,512,361...204,568,643
Ensembl chr 2:204,512,302...204,568,656
JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Conduction disorder of the heart ClinVar PMID:25741868, PMID:28492532 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259
JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Conduction disorder of the heart ClinVar PMID:21606396, PMID:25741868 NCBI chr18:15,579,322...15,637,720
Ensembl chr18:15,579,315...15,637,715
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Conduction disorder of the heart ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
JBrowse link
G Egr1 early growth response 1 ISO mRNA:increased expression:heart (mouse) RGD PMID:15809371 RGD:5131924 NCBI chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429
JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Conduction disorder of the heart ClinVar PMID:25741868 NCBI chr 4:56,710,934...56,738,779
Ensembl chr 4:56,711,049...56,738,791
JBrowse link
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: Conduction disorder of the heart ClinVar PMID:25741868, PMID:27532257, PMID:28492532 NCBI chr10:88,280,517...88,307,451
Ensembl chr10:88,279,632...88,307,412
JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Conduction disorder of the heart ClinVar PMID:17088455, PMID:19322600, PMID:19841300, PMID:21410720, PMID:22581653, PMID:22677073, PMID:23465283, PMID:23631430, PMID:23861362, PMID:24033266, PMID:24334129, PMID:25637381, PMID:25741868, PMID:26159999, PMID:28492532 NCBI chr 4:7,355,066...7,387,282
Ensembl chr 4:7,355,574...7,387,253
JBrowse link
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO CTD Direct Evidence: therapeutic CTD PMID:26831068 NCBI chr 8:33,435,493...33,463,410
Ensembl chr 8:33,433,905...33,463,467
JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Conduction disorder of the heart ClinVar PMID:10482963, PMID:10704188, PMID:10737999, PMID:10973849, PMID:11530100, PMID:12736279, PMID:14510661, PMID:15935335, PMID:16556866, PMID:22309168, PMID:22539601, PMID:23098067, PMID:23392653, PMID:24033266, PMID:24052033, PMID:24552659, PMID:24912595, PMID:25236808, PMID:25705178, PMID:25741868, PMID:26019114, PMID:26546361, PMID:27451284, PMID:27816319, PMID:27831900, PMID:28438721, PMID:28492532, PMID:28720088, PMID:29247119, PMID:29379719, PMID:29740400, PMID:32238909 NCBI chr 1:216,293,087...216,630,339
Ensembl chr 1:216,293,087...216,630,339
JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Heart block ClinVar PMID:30311386 NCBI chr20:44,060,715...44,201,966
Ensembl chr20:44,060,731...44,209,614
JBrowse link
G Lmna lamin A/C ISO CTD Direct Evidence: marker/mechanism CTD PMID:15996213 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Conduction disorder of the heart
ClinVar Annotator: match by term: Heart block
ClinVar PMID:2943217, PMID:15519027, PMID:16858239, PMID:18273486, PMID:18533079, PMID:19574547, PMID:20215591, PMID:20433692, PMID:20800588, PMID:21415409, PMID:21499742, PMID:21832025, PMID:21832052, PMID:21835320, PMID:22361390, PMID:22555271, PMID:23054336, PMID:23283745, PMID:23861362, PMID:24033266, PMID:24111713, PMID:24510615, PMID:25031304, PMID:25351510, PMID:25740977, PMID:25741868, PMID:26914223, PMID:27483260, PMID:27532257, PMID:27688314, PMID:28138913, PMID:28492532, PMID:28658286, PMID:28679633, PMID:28824454, PMID:28916354, PMID:28971120, PMID:30645170 NCBI chr 3:79,940,509...79,958,731
Ensembl chr 3:79,940,561...79,958,730
JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Conduction disorder of the heart ClinVar PMID:25741868 NCBI chr15:33,605,653...33,629,730
Ensembl chr15:33,605,654...33,629,699
JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Conduction disorder of the heart ClinVar PMID:25741868, PMID:28492532, PMID:29343803 NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Conduction disorder of the heart ClinVar PMID:20400443, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25351510, PMID:25741868, PMID:26230511, PMID:27085656, PMID:28492532 NCBI chr11:88,912,163...88,972,213 JBrowse link
G Rbm20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Conduction disorder of the heart ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 1:274,391,932...274,589,816
Ensembl chr 1:274,391,932...274,589,816
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Conduction disorder of the heart ClinVar PMID:19926015, PMID:21964171, PMID:23204524, PMID:23396983, PMID:23861362, PMID:24025405, PMID:24033266, PMID:24055113, PMID:25163546, PMID:25351510, PMID:25637381, PMID:25741868, PMID:26332594, PMID:26899768, PMID:27153395, PMID:27231019, PMID:27538377, PMID:27930701, PMID:28404607, PMID:28492532 NCBI chr17:65,533,998...65,955,606
Ensembl chr17:65,535,403...65,955,606
JBrowse link
G Scn10a sodium voltage-gated channel alpha subunit 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062061 NCBI chr 8:128,298,593...128,416,896
Ensembl chr 8:128,298,594...128,416,650
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Conduction disorder of the heart ClinVar PMID:10508990, PMID:10961955, PMID:10973849, PMID:17210839, PMID:17210841, PMID:17646591, PMID:18451998, PMID:19716085, PMID:19841300, PMID:22378279, PMID:22581653, PMID:22685113, PMID:23465283, PMID:24033266, PMID:24055113, PMID:24144883, PMID:24613995, PMID:24631775, PMID:25210526, PMID:25351510, PMID:25410959, PMID:25637381, PMID:25741868, PMID:25904541, PMID:26743238, PMID:26746457, PMID:26822237, PMID:28341588, PMID:28412158, PMID:28492532, PMID:29247119, PMID:29331327, PMID:29764897 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
G Sox6 SRY-box transcription factor 6 ISO RGD PMID:10760285 RGD:1580857 NCBI chr 1:185,631,702...186,186,192
Ensembl chr 1:185,673,177...186,182,829
JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Conduction disorder of the heart ClinVar PMID:21887725, PMID:23382873, PMID:25416190, PMID:25741868, PMID:28492532 NCBI chr 1:101,293,300...101,323,484
Ensembl chr 1:101,293,409...101,323,960
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Conduction disorder of the heart ClinVar PMID:25741868 NCBI chr 3:63,565,160...63,837,815 JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Conduction disorder of the heart ClinVar PMID:25741868, PMID:26467025, PMID:28492532, PMID:31371117 NCBI chr18:15,532,963...15,542,180
Ensembl chr18:15,532,963...15,540,177
JBrowse link
atrial heart septal defect 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: ASD WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
ClinVar Annotator: match by term: Atrial septal defect 7 with or without atrioventricular conduction defects
ClinVar Annotator: match by OMIM:108900
OMIM
ClinVar
PMID:1260978, PMID:9651244, PMID:10021345, PMID:10587520, PMID:10903346, PMID:10943630, PMID:10948187, PMID:11714651, PMID:12414819, PMID:12798584, PMID:13050604, PMID:14607454, PMID:15342699, PMID:15689439, PMID:15810002, PMID:15917268, PMID:16418214, PMID:16896344, PMID:17891434, PMID:18414213, PMID:18976153, PMID:19073351, PMID:19181906, PMID:19464101, PMID:19533775, PMID:19678963, PMID:19933292, PMID:19948535, PMID:20022124, PMID:20456451, PMID:20659440, PMID:20725931, PMID:20807224, PMID:21091212, PMID:21110066, PMID:21165553, PMID:21450989, PMID:21561848, PMID:21677783, PMID:22498567, PMID:22920929, PMID:22995991, PMID:23285148, PMID:23661673, PMID:24033266, PMID:24376681, PMID:24880466, PMID:25205790, PMID:25319568, PMID:25741868, PMID:25742962, PMID:26014430, PMID:26421664, PMID:26679770, PMID:27013732, PMID:28492532, PMID:29037160, PMID:30240412, PMID:30611920 NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
JBrowse link
Atrial Septal Defect with Atrioventricular Conduction Defects term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects ClinVar PMID:10587520, PMID:10903346, PMID:11714651, PMID:14607454, PMID:16418214, PMID:17891434, PMID:18414213, PMID:18976153, PMID:19073351, PMID:19181906, PMID:19464101, PMID:19533775, PMID:19678963, PMID:19933292, PMID:19948535, PMID:20022124, PMID:20456451, PMID:20725931, PMID:20807224, PMID:21091212, PMID:22995991, PMID:23285148, PMID:23661673, PMID:24033266, PMID:24376681, PMID:25741868, PMID:25742962, PMID:28492532, PMID:29037160, PMID:30611920 NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
JBrowse link
atrial standstill 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja5 gap junction protein, alpha 5 ISO ClinVar Annotator: match by term: Atrial standstill 1 OMIM
ClinVar
PMID:9588401, PMID:16790700, PMID:21921585, PMID:22199024, PMID:22713807, PMID:22912587, PMID:24060583, PMID:25205790, PMID:25741868, PMID:26137477, PMID:26279651, PMID:27930557, PMID:28457700, PMID:28492532 NCBI chr 2:199,162,745...199,184,942
Ensembl chr 2:199,162,745...199,184,939
JBrowse link
G Nppa natriuretic peptide A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:164,808,407...164,809,716
Ensembl chr 5:164,808,323...164,809,705
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Atrial standstill 1, digenic ClinVar PMID:3953067, PMID:12522116, PMID:15466643, PMID:15998690, PMID:16188595, PMID:16684018, PMID:19251209, PMID:19716085, PMID:20129283, PMID:20384651, PMID:20539757, PMID:21596231, PMID:21824921, PMID:22247482, PMID:22581653, PMID:23791817, PMID:24136861, PMID:24573164, PMID:24762805, PMID:25741868, PMID:25904541, PMID:26111534, PMID:28492532 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
atrioventricular block term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnai2 G protein subunit alpha i2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17277016 NCBI chr 8:116,370,730...116,391,337
Ensembl chr 8:116,370,744...116,391,307
JBrowse link
G Kcna5 potassium voltage-gated channel subfamily A member 5 ISO ClinVar Annotator: match by term: Atrioventricular block ClinVar PMID:30311386 NCBI chr 4:159,077,195...159,079,003
Ensembl chr 4:159,077,195...159,079,003
JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Atrioventricular block ClinVar PMID:28492532, PMID:30311386 NCBI chr 4:7,355,066...7,387,282
Ensembl chr 4:7,355,574...7,387,253
JBrowse link
G Lmna lamin A/C ISO DNA:missense mutation:cds:p.G613A (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:10580070, PMID:25469153 RGD:12791032 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: AV Block Third Degree Adverse Event ClinVar NCBI chr15:33,605,653...33,629,730
Ensembl chr15:33,605,654...33,629,699
JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO DNA:nonsense mutation:exon:p.Y256X (c.768T>A) (human) RGD PMID:16896344 RGD:12914775 NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Atrioventricular conduction block ClinVar PMID:11804990, PMID:15671429, PMID:18048769, PMID:19056759, PMID:22581653, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
first-degree atrioventricular block term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: First degree atrioventricular block ClinVar PMID:21127202, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
JBrowse link
Nonprogressive Heart Block term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by null ClinVar PMID:10471492 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
progressive familial heart block term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Progressive familial heart block ClinVar PMID:25741868 NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
JBrowse link
G Hrc histidine rich calcium binding protein ISO ClinVar Annotator: match by term: Hereditary bundle branch system defect
ClinVar Annotator: match by term: Progressive familial heart block
ClinVar PMID:619595, PMID:20562447, PMID:21887725, PMID:28492532, PMID:30021168 NCBI chr 1:101,324,788...101,328,391
Ensembl chr 1:101,324,652...101,328,435
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Progressive familial heart block
ClinVar Annotator: match by term: Hereditary bundle branch system defect
ClinVar PMID:2107088, PMID:8661019, PMID:10471492, PMID:10508990, PMID:10807545, PMID:10961955, PMID:10966831, PMID:10973849, PMID:11463728, PMID:11710892, PMID:11804990, PMID:11823453, PMID:11901046, PMID:11960580, PMID:11997281, PMID:12193783, PMID:12354768, PMID:12471205, PMID:12566525, PMID:12569159, PMID:12639704, PMID:12820704, PMID:14500339, PMID:14760488, PMID:14967853, PMID:14985827, PMID:15121794, PMID:15161528, PMID:15176425, PMID:15338453, PMID:15466642, PMID:15556047, PMID:15599693, PMID:15671429, PMID:15689442, PMID:15840476, PMID:15851227, PMID:15851440, PMID:15992732, PMID:15996170, PMID:15998675, PMID:16061744, PMID:16132053, PMID:16155735, PMID:16239976, PMID:16267253, PMID:16379539, PMID:16414944, PMID:16453014, PMID:16453024, PMID:16540748, PMID:16568155, PMID:16611632, PMID:16707561, PMID:16712702, PMID:16731473, PMID:16922724, PMID:17161064, PMID:17185997, PMID:17210839, PMID:17210841, PMID:17227473, PMID:17275750, PMID:17331104, PMID:17587741, PMID:17605181, PMID:17675083, PMID:17892895, PMID:17905336, PMID:17908752, PMID:17967976, PMID:17993325, PMID:18048769, PMID:18071069, PMID:18088563, PMID:18093912, PMID:18156160, PMID:18245395, PMID:18362431, PMID:18368697, PMID:18378609, PMID:18426444, PMID:18451998, PMID:18452873, PMID:18452875, PMID:18456723, PMID:18508782, PMID:18849657, PMID:18976777, PMID:19026623, PMID:19027780, PMID:19056759, PMID:19083750, PMID:19302788, PMID:19305408, PMID:19305409, PMID:19322600, PMID:19406494, PMID:19412328, PMID:19597050, PMID:19666841, PMID:19716085, PMID:19799913, PMID:19841298, PMID:19841300, PMID:19996378, PMID:20102864, PMID:20110800, PMID:20123697, PMID:20129283, PMID:20403459, PMID:20470418, PMID:20486126, PMID:20609320, PMID:20636320, PMID:20875080, PMID:20981092, PMID:21051419, PMID:21070882, PMID:21109022, PMID:21126620, PMID:21167004, PMID:21321465, PMID:21325150, PMID:21385947, PMID:21410720, PMID:21498565, PMID:21596231, PMID:21621375, PMID:21622575, PMID:21705349, PMID:21726068, PMID:22338672, PMID:22373669, PMID:22378279, PMID:22519808, PMID:22581653, PMID:22677073, PMID:22682427, PMID:22685113, PMID:22840528, PMID:22885917, PMID:22984773, PMID:22995991, PMID:23008441, PMID:23091201, PMID:23098067, PMID:23174487, PMID:23299917, PMID:23382499, PMID:23414114, PMID:23465283, PMID:23503384, PMID:23571586, PMID:23631430, PMID:23714088, PMID:23805106, PMID:23838598, PMID:23853484, PMID:23861362, PMID:23874304, PMID:23936059, PMID:24033266, PMID:24055113, PMID:24136861, PMID:24144883, PMID:24317018, PMID:24332150, PMID:24400668, PMID:24463578, PMID:24529773, PMID:24606995, PMID:24613995, PMID:24631775, PMID:24653702, PMID:24667783, PMID:24681144, PMID:24721456, PMID:24721642, PMID:24736382, PMID:24784157, PMID:24895455, PMID:24951663, PMID:25051102, PMID:25065297, PMID:25102755, PMID:25172307, PMID:25348405, PMID:25351510, PMID:25410959, PMID:25554238, PMID:25637381, PMID:25741868, PMID:25757662, PMID:25815641, PMID:25829473, PMID:25904541, PMID:25923670, PMID:26129877, PMID:26131924, PMID:26159999, PMID:26173111, PMID:26209461, PMID:26213684, PMID:26220391, PMID:26282245, PMID:26332594, PMID:26406308, PMID:26467025, PMID:26743238, PMID:26746457, PMID:26749013, PMID:27077130, PMID:27153395, PMID:27287068, PMID:27381756, PMID:27435932, PMID:27554632, PMID:27566755, PMID:27707468, PMID:27711072, PMID:27896284, PMID:28069705, PMID:28074886, PMID:28087566, PMID:28202948, PMID:28265756, PMID:28301460, PMID:28416588, PMID:28472724, PMID:28491758, PMID:28492532, PMID:28493952, PMID:28498465, PMID:28567303, PMID:28638671, PMID:28725320, PMID:28781330, PMID:28831623, PMID:28834665, PMID:29032884, PMID:29167113, PMID:29202755, PMID:29306897, PMID:29431662, PMID:29540472, PMID:29672598, PMID:29728395, PMID:29997009, PMID:30079003, PMID:30086531, PMID:30146492, PMID:30311386, PMID:30364184, PMID:30419068, PMID:30662450 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: LENEGRE-LEV DISEASE
ClinVar Annotator: match by term: Progressive familial heart block
ClinVar Annotator: match by term: Hereditary bundle branch system defect
ClinVar PMID:619595, PMID:20562447, PMID:21887725, PMID:28492532, PMID:30021168 NCBI chr 1:101,293,300...101,323,484
Ensembl chr 1:101,293,409...101,323,960
JBrowse link
Progressive Familial Heart Block Type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hrc histidine rich calcium binding protein ISO ClinVar Annotator: match by term: HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I ClinVar PMID:619595, PMID:20562447, PMID:21887725, PMID:28492532, PMID:30021168 NCBI chr 1:101,324,788...101,328,391
Ensembl chr 1:101,324,652...101,328,435
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I
ClinVar Annotator: match by term: Heart block progressive familial type 1
ClinVar PMID:2107088, PMID:8661019, PMID:10471492, PMID:10508990, PMID:10807545, PMID:10961955, PMID:10966831, PMID:10973849, PMID:11463728, PMID:11710892, PMID:11804990, PMID:11823453, PMID:11901046, PMID:11960580, PMID:11997281, PMID:12193783, PMID:12354768, PMID:12471205, PMID:12566525, PMID:12569159, PMID:12639704, PMID:12820704, PMID:14500339, PMID:14760488, PMID:14967853, PMID:14985827, PMID:15121794, PMID:15161528, PMID:15176425, PMID:15338453, PMID:15466642, PMID:15556047, PMID:15599693, PMID:15671429, PMID:15689442, PMID:15840476, PMID:15851227, PMID:15851440, PMID:15992732, PMID:15996170, PMID:15998675, PMID:16061744, PMID:16132053, PMID:16155735, PMID:16239976, PMID:16267253, PMID:16379539, PMID:16414944, PMID:16453014, PMID:16453024, PMID:16540748, PMID:16568155, PMID:16611632, PMID:16707561, PMID:16712702, PMID:16731473, PMID:16922724, PMID:17161064, PMID:17185997, PMID:17210839, PMID:17210841, PMID:17227473, PMID:17275750, PMID:17331104, PMID:17587741, PMID:17605181, PMID:17675083, PMID:17892895, PMID:17905336, PMID:17908752, PMID:17967976, PMID:17993325, PMID:18048769, PMID:18071069, PMID:18088563, PMID:18093912, PMID:18156160, PMID:18245395, PMID:18362431, PMID:18368697, PMID:18378609, PMID:18426444, PMID:18451998, PMID:18452873, PMID:18452875, PMID:18456723, PMID:18508782, PMID:18849657, PMID:18976777, PMID:19026623, PMID:19027780, PMID:19056759, PMID:19083750, PMID:19302788, PMID:19305408, PMID:19305409, PMID:19322600, PMID:19406494, PMID:19412328, PMID:19597050, PMID:19666841, PMID:19716085, PMID:19799913, PMID:19841298, PMID:19841300, PMID:19996378, PMID:20102864, PMID:20123697, PMID:20129283, PMID:20403459, PMID:20470418, PMID:20486126, PMID:20609320, PMID:20636320, PMID:20875080, PMID:20981092, PMID:21051419, PMID:21070882, PMID:21109022, PMID:21126620, PMID:21167004, PMID:21321465, PMID:21325150, PMID:21385947, PMID:21410720, PMID:21498565, PMID:21596231, PMID:21621375, PMID:21622575, PMID:21705349, PMID:21726068, PMID:22338672, PMID:22373669, PMID:22378279, PMID:22519808, PMID:22581653, PMID:22677073, PMID:22682427, PMID:22685113, PMID:22840528, PMID:22885917, PMID:22984773, PMID:22995991, PMID:23008441, PMID:23091201, PMID:23098067, PMID:23174487, PMID:23299917, PMID:23382499, PMID:23414114, PMID:23465283, PMID:23503384, PMID:23571586, PMID:23631430, PMID:23714088, PMID:23805106, PMID:23838598, PMID:23853484, PMID:23861362, PMID:23874304, PMID:23936059, PMID:24033266, PMID:24055113, PMID:24136861, PMID:24144883, PMID:24317018, PMID:24332150, PMID:24400668, PMID:24463578, PMID:24529773, PMID:24606995, PMID:24613995, PMID:24631775, PMID:24653702, PMID:24667783, PMID:24681144, PMID:24721456, PMID:24721642, PMID:24736382, PMID:24784157, PMID:24895455, PMID:24951663, PMID:25051102, PMID:25065297, PMID:25102755, PMID:25172307, PMID:25348405, PMID:25351510, PMID:25410959, PMID:25554238, PMID:25637381, PMID:25741868, PMID:25757662, PMID:25815641, PMID:25829473, PMID:25904541, PMID:25923670, PMID:26129877, PMID:26131924, PMID:26159999, PMID:26173111, PMID:26209461, PMID:26213684, PMID:26220391, PMID:26282245, PMID:26332594, PMID:26406308, PMID:26467025, PMID:26743238, PMID:26746457, PMID:26749013, PMID:27077130, PMID:27153395, PMID:27287068, PMID:27381756, PMID:27435932, PMID:27554632, PMID:27566755, PMID:27707468, PMID:27711072, PMID:27896284, PMID:28069705, PMID:28074886, PMID:28087566, PMID:28202948, PMID:28265756, PMID:28301460, PMID:28416588, PMID:28472724, PMID:28491758, PMID:28492532, PMID:28493952, PMID:28498465, PMID:28567303, PMID:28638671, PMID:28725320, PMID:28781330, PMID:28831623, PMID:28834665, PMID:29032884, PMID:29167113, PMID:29202755, PMID:29306897, PMID:29431662, PMID:29540472, PMID:29672598, PMID:29728395, PMID:29997009, PMID:30079003, PMID:30086531, PMID:30146492, PMID:30311386, PMID:30364184, PMID:30419068, PMID:30662450 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I ClinVar PMID:619595, PMID:20562447, PMID:21887725, PMID:28492532, PMID:30021168 NCBI chr 1:101,293,300...101,323,484
Ensembl chr 1:101,293,409...101,323,960
JBrowse link
progressive familial heart block type IA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hrc histidine rich calcium binding protein ISO ClinVar Annotator: match by term: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA ClinVar PMID:619595, PMID:20562447, PMID:21887725, PMID:28492532, PMID:30021168 NCBI chr 1:101,324,788...101,328,391
Ensembl chr 1:101,324,652...101,328,435
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA
ClinVar Annotator: match by term: Hereditary bundle branch system defect
ClinVar Annotator: match by OMIM:113900
OMIM
ClinVar
PMID:2107088, PMID:8661019, PMID:10471492, PMID:10508990, PMID:10807545, PMID:10961955, PMID:10966831, PMID:10973849, PMID:11463728, PMID:11710892, PMID:11804990, PMID:11823453, PMID:11901046, PMID:11960580, PMID:11997281, PMID:12193783, PMID:12354768, PMID:12471205, PMID:12566525, PMID:12569159, PMID:12639704, PMID:12820704, PMID:14500339, PMID:14760488, PMID:14967853, PMID:14985827, PMID:15121794, PMID:15161528, PMID:15176425, PMID:15338453, PMID:15466642, PMID:15556047, PMID:15599693, PMID:15671429, PMID:15689442, PMID:15840476, PMID:15851227, PMID:15851440, PMID:15992732, PMID:15996170, PMID:15998675, PMID:16061744, PMID:16132053, PMID:16155735, PMID:16239976, PMID:16267253, PMID:16379539, PMID:16414944, PMID:16453014, PMID:16453024, PMID:16540748, PMID:16568155, PMID:16611632, PMID:16707561, PMID:16712702, PMID:16731473, PMID:16922724, PMID:17161064, PMID:17185997, PMID:17210839, PMID:17210841, PMID:17227473, PMID:17275750, PMID:17331104, PMID:17587741, PMID:17605181, PMID:17675083, PMID:17892895, PMID:17905336, PMID:17908752, PMID:17967976, PMID:17993325, PMID:18048769, PMID:18071069, PMID:18088563, PMID:18093912, PMID:18156160, PMID:18245395, PMID:18362431, PMID:18368697, PMID:18378609, PMID:18426444, PMID:18451998, PMID:18452873, PMID:18452875, PMID:18456723, PMID:18508782, PMID:18849657, PMID:18976777, PMID:19026623, PMID:19027780, PMID:19056759, PMID:19083750, PMID:19302788, PMID:19305408, PMID:19305409, PMID:19322600, PMID:19406494, PMID:19412328, PMID:19597050, PMID:19666841, PMID:19716085, PMID:19799913, PMID:19841298, PMID:19841300, PMID:19996378, PMID:20102864, PMID:20123697, PMID:20129283, PMID:20403459, PMID:20470418, PMID:20486126, PMID:20609320, PMID:20636320, PMID:20875080, PMID:20981092, PMID:21051419, PMID:21070882, PMID:21109022, PMID:21126620, PMID:21167004, PMID:21321465, PMID:21325150, PMID:21385947, PMID:21410720, PMID:21498565, PMID:21596231, PMID:21621375, PMID:21622575, PMID:21705349, PMID:21726068, PMID:22338672, PMID:22373669, PMID:22378279, PMID:22519808, PMID:22581653, PMID:22677073, PMID:22682427, PMID:22685113, PMID:22840528, PMID:22885917, PMID:22984773, PMID:22995991, PMID:23008441, PMID:23091201, PMID:23098067, PMID:23174487, PMID:23299917, PMID:23382499, PMID:23414114, PMID:23465283, PMID:23503384, PMID:23571586, PMID:23631430, PMID:23714088, PMID:23805106, PMID:23838598, PMID:23853484, PMID:23861362, PMID:23874304, PMID:23936059, PMID:24033266, PMID:24055113, PMID:24136861, PMID:24144883, PMID:24317018, PMID:24332150, PMID:24400668, PMID:24463578, PMID:24529773, PMID:24606995, PMID:24613995, PMID:24631775, PMID:24653702, PMID:24667783, PMID:24681144, PMID:24721456, PMID:24721642, PMID:24736382, PMID:24784157, PMID:24895455, PMID:24951663, PMID:25051102, PMID:25065297, PMID:25102755, PMID:25172307, PMID:25348405, PMID:25351510, PMID:25410959, PMID:25554238, PMID:25637381, PMID:25741868, PMID:25757662, PMID:25815641, PMID:25829473, PMID:25904541, PMID:25923670, PMID:26129877, PMID:26131924, PMID:26159999, PMID:26173111, PMID:26209461, PMID:26213684, PMID:26220391, PMID:26282245, PMID:26332594, PMID:26406308, PMID:26467025, PMID:26743238, PMID:26746457, PMID:26749013, PMID:27077130, PMID:27153395, PMID:27287068, PMID:27381756, PMID:27435932, PMID:27554632, PMID:27566755, PMID:27707468, PMID:27711072, PMID:27896284, PMID:28069705, PMID:28074886, PMID:28087566, PMID:28202948, PMID:28265756, PMID:28301460, PMID:28416588, PMID:28472724, PMID:28491758, PMID:28492532, PMID:28493952, PMID:28498465, PMID:28567303, PMID:28638671, PMID:28725320, PMID:28781330, PMID:28831623, PMID:28834665, PMID:29032884, PMID:29167113, PMID:29202755, PMID:29306897, PMID:29431662, PMID:29540472, PMID:29672598, PMID:29728395, PMID:29997009, PMID:30079003, PMID:30086531, PMID:30146492, PMID:30311386, PMID:30364184, PMID:30419068, PMID:30662450 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA ClinVar PMID:619595, PMID:20562447, PMID:21887725, PMID:28492532, PMID:30021168 NCBI chr 1:101,293,300...101,323,484
Ensembl chr 1:101,293,409...101,323,960
JBrowse link
progressive familial heart block type IB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hrc histidine rich calcium binding protein ISO ClinVar Annotator: match by term: Progressive familial heart block type 1B ClinVar PMID:619595, PMID:20562447, PMID:21887725, PMID:28492532, PMID:30021168 NCBI chr 1:101,324,788...101,328,391
Ensembl chr 1:101,324,652...101,328,435
JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Progressive familial heart block type 1B
ClinVar Annotator: match by term: Progressive familial heart block type IB
ClinVar Annotator: match by term: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB
ClinVar Annotator: match by OMIM:604559
OMIM
ClinVar
PMID:619595, PMID:897853, PMID:7882468, PMID:19726882, PMID:20562447, PMID:21173080, PMID:21887725, PMID:22750058, PMID:23382873, PMID:24019741, PMID:25231975, PMID:25416190, PMID:25441424, PMID:25467552, PMID:25741868, PMID:26272755, PMID:26350513, PMID:26636822, PMID:26704558, PMID:26820365, PMID:27181684, PMID:27207958, PMID:28315637, PMID:28492532, PMID:28494446, PMID:30021168, PMID:30142439, PMID:30311386, PMID:30391667 NCBI chr 1:101,293,300...101,323,484
Ensembl chr 1:101,293,409...101,323,960
JBrowse link
second-degree atrioventricular block term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Atrioventricular block, idiopathic second-degree ClinVar PMID:10587520 NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
JBrowse link
sick sinus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen ISO DNA:SNP:promoter:-6G>A (human) RGD PMID:22242192 RGD:8548870 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Ank2 ankyrin 2 susceptibility ISO RGD PMID:15178757 RGD:1599114 NCBI chr 2:231,224,643...231,522,655
Ensembl chr 2:231,226,949...231,648,122
JBrowse link
G Cacna1d calcium voltage-gated channel subunit alpha1 D ISO CTD Direct Evidence: marker/mechanism CTD PMID:26831068 NCBI chr16:6,110,294...6,405,022
Ensembl chr16:6,112,150...6,405,117
JBrowse link
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 ISS OMIM:163800 | OMIM:608567 | OMIM:614090 MouseDO NCBI chr 2:50,099,576...50,499,799
Ensembl chr 2:50,099,576...50,499,799
JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 ISS OMIM:163800 | OMIM:608567 | OMIM:614090 MouseDO NCBI chr 8:63,599,907...63,637,327
Ensembl chr 8:63,600,663...63,639,654
JBrowse link
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO CTD Direct Evidence: therapeutic CTD PMID:26831068 NCBI chr 8:33,435,493...33,463,410
Ensembl chr 8:33,433,905...33,463,467
JBrowse link
G Myh6 myosin heavy chain 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sick sinus syndrome 3, susceptibility to
CTD
ClinVar
OMIM
PMID:20656787, PMID:21378987, PMID:24033266, PMID:25163546, PMID:25351510, PMID:25717017, PMID:25741868, PMID:28492532, PMID:28600387, PMID:28771489, PMID:28797094, PMID:28991257, PMID:29590334 NCBI chr15:33,605,653...33,629,730
Ensembl chr15:33,605,654...33,629,699
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19039989 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO
ISS
ClinVar Annotator: match by term: Sick sinus syndrome
ClinVar Annotator: match by term: Sinus node disease
OMIM:163800 | OMIM:608567 | OMIM:614090
ClinVar
MouseDO
PMID:10377081, PMID:10727653, PMID:10961955, PMID:10973849, PMID:11901046, PMID:12877697, PMID:14523039, PMID:15840476, PMID:16379539, PMID:16453024, PMID:18451998, PMID:18452873, PMID:18508782, PMID:19716085, PMID:19841300, PMID:20110800, PMID:20129283, PMID:20384651, PMID:20448214, PMID:20539757, PMID:21321465, PMID:22090166, PMID:22370247, PMID:22581653, PMID:23631430, PMID:24033266, PMID:24762805, PMID:24784157, PMID:24871449, PMID:25348405, PMID:25741868, PMID:25904541, PMID:26467025, PMID:27381756, PMID:28492532, PMID:28781849 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: Sick sinus syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:149,874,023...149,905,980
Ensembl chr 3:149,874,030...149,905,944
JBrowse link
G Tcap titin-cap ISO ClinVar Annotator: match by term: Sick sinus syndrome ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr10:86,337,705...86,338,414
Ensembl chr10:86,337,728...86,338,411
JBrowse link
Sick Sinus Syndrome 1, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Sick sinus syndrome 1, autosomal recessive
ClinVar Annotator: match by term: SICK SINUS SYNDROME 1
OMIM
ClinVar
PMID:2107088, PMID:8661019, PMID:10508990, PMID:10807545, PMID:10961955, PMID:10966831, PMID:10973849, PMID:11463728, PMID:11710892, PMID:11748104, PMID:11804990, PMID:11823453, PMID:11901046, PMID:11960580, PMID:11997281, PMID:12193783, PMID:12354768, PMID:12471205, PMID:12566525, PMID:12569159, PMID:12639704, PMID:12820704, PMID:14500339, PMID:14523039, PMID:14760488, PMID:14967853, PMID:14985827, PMID:15121794, PMID:15161528, PMID:15176425, PMID:15338453, PMID:15466642, PMID:15556047, PMID:15599693, PMID:15671429, PMID:15689442, PMID:15840476, PMID:15840483, PMID:15851227, PMID:15851440, PMID:15992732, PMID:15996170, PMID:15998675, PMID:16061744, PMID:16132053, PMID:16155735, PMID:16239976, PMID:16267253, PMID:16325048, PMID:16379539, PMID:16414944, PMID:16453014, PMID:16453024, PMID:16540748, PMID:16568155, PMID:16611632, PMID:16707561, PMID:16712702, PMID:16731473, PMID:16922724, PMID:17161064, PMID:17185997, PMID:17210839, PMID:17210841, PMID:17227473, PMID:17275750, PMID:17331104, PMID:17368591, PMID:17587741, PMID:17605181, PMID:17646591, PMID:17675083, PMID:17892895, PMID:17905336, PMID:17908752, PMID:17967976, PMID:17993325, PMID:18071069, PMID:18088563, PMID:18093912, PMID:18156160, PMID:18245395, PMID:18361072, PMID:18362431, PMID:18368697, PMID:18378609, PMID:18426444, PMID:18451998, PMID:18452873, PMID:18452875, PMID:18456723, PMID:18508782, PMID:18849657, PMID:18976777, PMID:19026623, PMID:19027780, PMID:19056759, PMID:19083750, PMID:19251209, PMID:19302788, PMID:19305408, PMID:19305409, PMID:19322600, PMID:19406494, PMID:19412328, PMID:19597050, PMID:19666841, PMID:19716085, PMID:19799913, PMID:19841298, PMID:19841300, PMID:19996378, PMID:20102864, PMID:20123697, PMID:20129283, PMID:20384651, PMID:20403459, PMID:20448214, PMID:20470418, PMID:20486126, PMID:20539757, PMID:20609320, PMID:20636320, PMID:20875080, PMID:20981092, PMID:21051419, PMID:21070882, PMID:21109022, PMID:21126620, PMID:21167004, PMID:21321465, PMID:21325150, PMID:21385947, PMID:21410720, PMID:21498565, PMID:21596231, PMID:21621375, PMID:21622575, PMID:21705349, PMID:21726068, PMID:22338672, PMID:22360817, PMID:22373669, PMID:22378279, PMID:22519808, PMID:22581653, PMID:22677073, PMID:22682427, PMID:22685113, PMID:22840528, PMID:22885917, PMID:22984773, PMID:22995991, PMID:23008441, PMID:23091201, PMID:23098067, PMID:23174487, PMID:23299917, PMID:23382499, PMID:23414114, PMID:23465283, PMID:23503384, PMID:23571586, PMID:23631430, PMID:23714088, PMID:23805106, PMID:23838598, PMID:23853484, PMID:23861362, PMID:23874304, PMID:23936059, PMID:24033266, PMID:24055113, PMID:24059039, PMID:24136861, PMID:24144883, PMID:24317018, PMID:24332150, PMID:24400668, PMID:24463578, PMID:24529773, PMID:24606995, PMID:24613995, PMID:24631775, PMID:24653702, PMID:24667783, PMID:24681144, PMID:24721456, PMID:24721642, PMID:24736382, PMID:24762805, PMID:24784157, PMID:24895455, PMID:24951663, PMID:25051102, PMID:25065297, PMID:25102755, PMID:25171853, PMID:25172307, PMID:25210526, PMID:25348405, PMID:25351510, PMID:25410959, PMID:25554238, PMID:25637381, PMID:25741868, PMID:25757662, PMID:25815641, PMID:25829473, PMID:25904541, PMID:25923670, PMID:26129877, PMID:26131924, PMID:26159999, PMID:26173111, PMID:26209461, PMID:26213684, PMID:26220391, PMID:26282245, PMID:26332594, PMID:26406308, PMID:26467025, PMID:26636822, PMID:26743238, PMID:26746457, PMID:26749013, PMID:26822237, PMID:26884609, PMID:27066507, PMID:27077130, PMID:27153395, PMID:27287068, PMID:27332903, PMID:27381756, PMID:27435932, PMID:27554632, PMID:27566755, PMID:27707468, PMID:27711072, PMID:27896284, PMID:28069705, PMID:28074886, PMID:28087566, PMID:28202948, PMID:28265756, PMID:28301460, PMID:28341588, PMID:28412158, PMID:28416588, PMID:28472724, PMID:28491758, PMID:28492532, PMID:28493952, PMID:28498465, PMID:28567303, PMID:28638671, PMID:28725320, PMID:28781330, PMID:28831623, PMID:28834665, PMID:29032884, PMID:29167113, PMID:29202755, PMID:29247119, PMID:29306897, PMID:29331327, PMID:29431662, PMID:29540472, PMID:29574140, PMID:29672598, PMID:29728395, PMID:29764897, PMID:29997009, PMID:30079003, PMID:30086531, PMID:30146492, PMID:30311386, PMID:30364184, PMID:30419068, PMID:30662450 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
Sick Sinus Syndrome 2, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 ISO ClinVar Annotator: match by term: Sick sinus syndrome 2, autosomal dominant
ClinVar Annotator: match by OMIM:163800
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:12750403, PMID:15123648, PMID:16407510, PMID:17646576, PMID:19748888, PMID:20662977, PMID:20693575, PMID:21615589, PMID:23075627, PMID:23623143, PMID:23631727, PMID:23861362, PMID:24033266, PMID:24492017, PMID:24569893, PMID:25145517, PMID:25145518, PMID:25145519, PMID:25467552, PMID:25642760, PMID:25741868, PMID:26467025, PMID:27173043, PMID:27182706, PMID:27439367, PMID:27553229, PMID:27659478, PMID:28086167, PMID:28104484, PMID:28182231, PMID:28204831, PMID:28254188, PMID:28254189, PMID:28341588, PMID:28350118, PMID:28492532 NCBI chr 8:63,599,907...63,637,327
Ensembl chr 8:63,600,663...63,639,654
JBrowse link
Sinoatrial Block term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kl Klotho ISO RGD PMID:15037532 RGD:1581730 NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551
JBrowse link
G Lmna lamin A/C ISO CTD Direct Evidence: marker/mechanism CTD PMID:15996213 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
third-degree atrioventricular block term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttn titin ISO ClinVar Annotator: match by term: Third degree atrioventricular block ClinVar PMID:25741868, PMID:31470098 NCBI chr 3:63,565,160...63,837,815 JBrowse link
Trifascicular Block term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lamp2 lysosomal-associated membrane protein 2 ISO ClinVar Annotator: match by term: Trifascicular block on electrocardiogram ClinVar PMID:28492532 NCBI chr  X:124,722,628...124,766,079
Ensembl chr  X:124,722,628...124,766,044
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Pathological Conditions, Signs and Symptoms 8739
      Pathologic Processes 6124
        Cardiac Arrhythmias 593
          Heart Block 42
            Adams-Stokes Syndrome 0
            Atrial Septal Defect with Atrioventricular Conduction Defects + 1
            Bundle-Branch Block + 1
            Nonprogressive Heart Block 1
            Sinoatrial Block + 2
            atrial standstill 1 3
            atrioventricular block + 12
            congenital heart block + 4
            sick sinus syndrome + 11
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      cardiovascular system disease 4454
        heart disease 2664
          Cardiac Arrhythmias 593
            Heart Block 42
              Adams-Stokes Syndrome 0
              Atrial Septal Defect with Atrioventricular Conduction Defects + 1
              Bundle-Branch Block + 1
              Nonprogressive Heart Block 1
              Sinoatrial Block + 2
              atrial standstill 1 3
              atrioventricular block + 12
              congenital heart block + 4
              sick sinus syndrome + 11
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.