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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
 alt_id: OMIM:209600

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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:26498160 PMID:28492532 NCBI chrNW_004955413:17,385,966...17,510,220
Ensembl chrNW_004955413:17,382,564...17,510,132 		JBrowse link
G Akap10 A-kinase anchoring protein 10 ISO ClinVar Annotator: match by term: Conduction disorder of the heart ClinVar PMID:25741868 NCBI chrNW_004955467:919,207...990,753
Ensembl chrNW_004955467:926,508...990,753 		JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Conduction disorder of the heart ClinVar PMID:12571597 PMID:15178757 PMID:16253912 PMID:16650839 PMID:17242276 More... NCBI chrNW_004955457:13,624,590...13,938,427
Ensembl chrNW_004955457:13,624,413...14,076,261 		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 chrNW_004955454:4,573,647...5,199,046
Ensembl chrNW_004955454:4,490,923...5,198,506 		JBrowse link
G Cacna1d calcium voltage-gated channel subunit alpha1 D ISO CTD Direct Evidence: marker/mechanism CTD PMID:26831068 NCBI chrNW_004955430:3,450,151...3,796,983
Ensembl chrNW_004955430:3,268,953...3,794,592 		JBrowse link
G Casq2 calsequestrin 2 ISO ClinVar Annotator: match by term: Conduction disorder of the heart ClinVar PMID:25741868 PMID:27114410 PMID:28492532 NCBI chrNW_004955435:18,941,975...18,996,027
Ensembl chrNW_004955435:18,941,936...18,996,200 		JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Conduction disorder of the heart ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955535:1,283,084...3,297,015
Ensembl chrNW_004955535:1,283,523...3,299,542 		JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Conduction disorder of the heart ClinVar PMID:21606396 PMID:25741868 PMID:28492532 PMID:29517769 PMID:30847666 NCBI chrNW_004955402:18,826,400...18,876,188 JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Conduction disorder of the heart ClinVar PMID:20857253 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31983221 More... NCBI chrNW_004955465:6,356,970...6,391,206
Ensembl chrNW_004955465:6,356,863...6,392,207 		JBrowse link
G Egr1 early growth response 1 ISO mRNA:increased expression:heart (mouse) RGD PMID:15809371 RGD:5131924 NCBI chrNW_004955418:2,001,509...2,005,269
Ensembl chrNW_004955418:2,002,699...2,005,007 		JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Conduction disorder of the heart ClinVar PMID:25741868 PMID:27908349 PMID:28492532 NCBI chrNW_004955479:9,633,817...9,661,725
Ensembl chrNW_004955479:9,633,598...9,661,777 		JBrowse link
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: Conduction disorder of the heart ClinVar PMID:25741868 PMID:27532257 PMID:28492532 PMID:30847666 NCBI chrNW_004955451:15,993,055...16,004,152
Ensembl chrNW_004955451:15,989,180...16,004,155 		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 More... NCBI chrNW_004955491:5,391,444...5,422,241
Ensembl chrNW_004955491:5,391,384...5,422,241 		JBrowse link
G Kcnj5 potassium inwardly rectifying channel subfamily J member 5 ISO CTD Direct Evidence: therapeutic CTD PMID:26831068 NCBI chrNW_004955412:29,850,097...29,874,213
Ensembl chrNW_004955412:29,850,097...29,874,213 		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:9323054 PMID:10482963 PMID:10704188 PMID:10737999 PMID:10973849 More... NCBI chrNW_004955422:14,212,563...14,544,556
Ensembl chrNW_004955422:14,212,553...14,544,556 		JBrowse link
G Lmna lamin A/C ISO CTD Direct Evidence: marker/mechanism CTD PMID:15996213 NCBI chrNW_004955545:2,290,076...2,310,982
Ensembl chrNW_004955545:2,290,037...2,313,033 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Conduction disorder of the heart ClinVar PMID:203979 PMID:2943217 PMID:9536098 PMID:15519027 PMID:16858239 More... NCBI chrNW_004955422:888,529...902,074
Ensembl chrNW_004955422:888,589...901,725 		JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Conduction disorder of the heart ClinVar PMID:17010805 PMID:20400443 PMID:23183494 PMID:23396983 PMID:23861362 More... NCBI chrNW_004955505:2,878,001...2,959,299
Ensembl chrNW_004955505:2,878,081...2,958,404 		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 chrNW_004955485:590,094...769,604
Ensembl chrNW_004955485:586,373...769,635 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Heart block ClinVar PMID:16835904 PMID:24033266 PMID:25741868 NCBI chrNW_004955468:879,807...1,000,118
Ensembl chrNW_004955468:879,951...1,000,036 		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 More... NCBI chrNW_004955492:2,647,597...3,275,512
Ensembl chrNW_004955492:2,648,956...3,076,509 		JBrowse link
G Scn10a sodium voltage-gated channel alpha subunit 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062061 NCBI chrNW_004955427:25,157,179...25,244,020
Ensembl chrNW_004955427:25,157,179...25,243,473 		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 More... NCBI chrNW_004955427:25,295,517...25,371,419
Ensembl chrNW_004955427:25,295,514...25,371,552 		JBrowse link
G Sox6 SRY-box transcription factor 6 ISO RGD PMID:10760285 RGD:1580857 NCBI chrNW_004955414:30,965,626...31,532,473
Ensembl chrNW_004955414:30,971,920...31,335,263 		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 chrNW_004955559:1,539,036...1,581,800
Ensembl chrNW_004955559:1,546,365...1,581,712 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Conduction disorder of the heart ClinVar PMID:25741868 NCBI chrNW_004955403:18,057,344...18,328,389 JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Conduction disorder of the heart ClinVar PMID:10439123 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29875424 More... NCBI chrNW_004955402:18,921,235...18,927,976
Ensembl chrNW_004955402:18,921,274...18,928,108 		JBrowse link
atrial heart septal defect 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v0e1 ATPase H+ transporting V0 subunit e1 ISO ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chrNW_004955408:25,667,703...25,703,550
Ensembl chrNW_004955408:25,667,703...25,703,550 		JBrowse link
G Bnip1 BCL2 interacting protein 1 ISO ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chrNW_004955408:25,774,305...25,788,802
Ensembl chrNW_004955408:25,774,305...25,790,983 		JBrowse link
G Crebrf CREB3 regulatory factor ISO ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chrNW_004955408:25,718,523...25,769,551
Ensembl chrNW_004955408:25,719,187...25,774,555 		JBrowse link
G Dusp1 dual specificity phosphatase 1 ISO ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chrNW_004955408:25,481,294...25,484,381
Ensembl chrNW_004955408:25,481,294...25,484,381 		JBrowse link
G Ergic1 endoplasmic reticulum-golgi intermediate compartment 1 ISO ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chrNW_004955408:25,540,149...25,644,108
Ensembl chrNW_004955408:25,540,013...25,645,503 		JBrowse link
G Neurl1b neuralized E3 ubiquitin protein ligase 1B ISO ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chrNW_004955408:25,369,440...25,404,308
Ensembl chrNW_004955408:25,369,490...25,403,893 		JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Atrial septal defect 7 with or without atrioventricular conduction defects | ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome OMIM
ClinVar		 PMID:1260978 PMID:9536098 PMID:9651244 PMID:10587520 PMID:10903346 More... NCBI chrNW_004955408:25,833,649...25,836,673
Ensembl chrNW_004955408:25,832,683...25,836,840 		JBrowse link
G Rpl26l1 ribosomal protein L26 like 1 ISO ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chrNW_004955408:25,650,385...25,659,365
Ensembl chrNW_004955408:25,650,266...25,659,365 		JBrowse link
G Stc2 stanniocalcin 2 ISO ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chrNW_004955408:25,937,174...25,950,221
Ensembl chrNW_004955408:25,934,932...25,949,399 		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 Atp6v0e1 ATPase H+ transporting V0 subunit e1 ISO ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chrNW_004955408:25,667,703...25,703,550
Ensembl chrNW_004955408:25,667,703...25,703,550 		JBrowse link
G Bnip1 BCL2 interacting protein 1 ISO ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chrNW_004955408:25,774,305...25,788,802
Ensembl chrNW_004955408:25,774,305...25,790,983 		JBrowse link
G Crebrf CREB3 regulatory factor ISO ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chrNW_004955408:25,718,523...25,769,551
Ensembl chrNW_004955408:25,719,187...25,774,555 		JBrowse link
G Dusp1 dual specificity phosphatase 1 ISO ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chrNW_004955408:25,481,294...25,484,381
Ensembl chrNW_004955408:25,481,294...25,484,381 		JBrowse link
G Ergic1 endoplasmic reticulum-golgi intermediate compartment 1 ISO ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chrNW_004955408:25,540,149...25,644,108
Ensembl chrNW_004955408:25,540,013...25,645,503 		JBrowse link
G Neurl1b neuralized E3 ubiquitin protein ligase 1B ISO ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chrNW_004955408:25,369,440...25,404,308
Ensembl chrNW_004955408:25,369,490...25,403,893 		JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects ClinVar PMID:1260978 PMID:9536098 PMID:9651244 PMID:10587520 PMID:10903346 More... NCBI chrNW_004955408:25,833,649...25,836,673
Ensembl chrNW_004955408:25,832,683...25,836,840 		JBrowse link
G Rpl26l1 ribosomal protein L26 like 1 ISO ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chrNW_004955408:25,650,385...25,659,365
Ensembl chrNW_004955408:25,650,266...25,659,365 		JBrowse link
G Stc2 stanniocalcin 2 ISO ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chrNW_004955408:25,937,174...25,950,221
Ensembl chrNW_004955408:25,934,932...25,949,399 		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 | ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL, WITH CONDUCTION DISTURBANCE OMIM
ClinVar		 PMID:9588401 PMID:16790700 PMID:21921585 PMID:22199024 PMID:22713807 More... NCBI chrNW_004955568:635,319...652,692
Ensembl chrNW_004955568:635,042...653,349 		JBrowse link
G Nppa natriuretic peptide A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955486:2,061,196...2,062,805
Ensembl chrNW_004955486:2,060,735...2,063,003 		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:15671429 PMID:15998690 More... NCBI chrNW_004955427:25,295,517...25,371,419
Ensembl chrNW_004955427:25,295,514...25,371,552 		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 chrNW_004955532:2,059,038...2,079,120
Ensembl chrNW_004955532:2,059,038...2,079,957 		JBrowse link
G Lmna lamin A/C ISO DNA:missense mutation:cds:p.G613A (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:10580070 PMID:25469153 RGD:12791032 NCBI chrNW_004955545:2,290,076...2,310,982
Ensembl chrNW_004955545:2,290,037...2,313,033 		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 chrNW_004955408:25,833,649...25,836,673
Ensembl chrNW_004955408:25,832,683...25,836,840 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: AV block ClinVar PMID:11804990 PMID:15671429 PMID:18048769 PMID:19056759 PMID:22581653 More... NCBI chrNW_004955427:25,295,517...25,371,419
Ensembl chrNW_004955427:25,295,514...25,371,552 		JBrowse link
G Trpm4 transient receptor potential cation channel subfamily M member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32681584 PMID:33959666 NCBI chrNW_004955559:1,539,036...1,581,800
Ensembl chrNW_004955559:1,546,365...1,581,712 		JBrowse link
CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Exosc5 exosome component 5 ISO ClinVar Annotator: match by term: Cerebellar ataxia, brain abnormalities, and cardiac conduction defects OMIM
ClinVar		 PMID:25741868 PMID:29302074 PMID:30950035 PMID:32504085 PMID:34089229 NCBI chrNW_004955555:328,130...334,106
Ensembl chrNW_004955555:326,698...334,106 		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 term: Heart block, nonprogressive ClinVar PMID:10471492 NCBI chrNW_004955427:25,295,517...25,371,419
Ensembl chrNW_004955427:25,295,514...25,371,552 		JBrowse link
progressive familial heart block term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casq2 calsequestrin 2 ISO ClinVar Annotator: match by term: Hereditary bundle branch system defect ClinVar PMID:23861362 PMID:25741868 PMID:28404607 PMID:28492532 PMID:30615648 NCBI chrNW_004955435:18,941,975...18,996,027
Ensembl chrNW_004955435:18,941,936...18,996,200 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Progressive familial heart block ClinVar PMID:25741868 NCBI chrNW_004955465:6,356,970...6,391,206
Ensembl chrNW_004955465:6,356,863...6,392,207 		JBrowse link
G Hrc histidine rich calcium binding protein ISO ClinVar Annotator: match by term: Hereditary bundle branch system defect ClinVar PMID:619595 PMID:20562447 PMID:21887725 PMID:23382873 PMID:26350513 More... NCBI chrNW_004955559:1,583,661...1,587,457
Ensembl chrNW_004955559:1,583,876...1,587,355 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Hereditary bundle branch system defect | ClinVar Annotator: match by term: Progressive familial heart block ClinVar PMID:235469 PMID:291807 PMID:461398 PMID:1309946 PMID:2107088 More... NCBI chrNW_004955427:25,295,517...25,371,419
Ensembl chrNW_004955427:25,295,514...25,371,552 		JBrowse link
G Trpm4 transient receptor potential cation channel subfamily M member 4 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:23382873 PMID:26350513 More... NCBI chrNW_004955559:1,539,036...1,581,800
Ensembl chrNW_004955559:1,546,365...1,581,712 		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 1 ClinVar PMID:619595 PMID:20562447 PMID:21887725 PMID:23382873 PMID:26350513 More... NCBI chrNW_004955559:1,583,661...1,587,457
Ensembl chrNW_004955559:1,583,876...1,587,355 		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:235469 PMID:291807 PMID:461398 PMID:1309946 PMID:2107088 More... NCBI chrNW_004955427:25,295,517...25,371,419
Ensembl chrNW_004955427:25,295,514...25,371,552 		JBrowse link
G Trpm4 transient receptor potential cation channel subfamily M member 4 ISO ClinVar Annotator: match by term: Heart block progressive familial type 1 ClinVar PMID:619595 PMID:20562447 PMID:21887725 PMID:23382873 PMID:26350513 More... NCBI chrNW_004955559:1,539,036...1,581,800
Ensembl chrNW_004955559:1,546,365...1,581,712 		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: Hereditary bundle branch system defect ClinVar PMID:619595 PMID:20562447 PMID:21887725 PMID:23382873 PMID:26350513 More... NCBI chrNW_004955559:1,583,661...1,587,457
Ensembl chrNW_004955559:1,583,876...1,587,355 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Hereditary bundle branch system defect | ClinVar Annotator: match by term: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA ClinVar
OMIM		 PMID:235469 PMID:291807 PMID:461398 PMID:1309946 PMID:2107088 More... NCBI chrNW_004955427:25,295,517...25,371,419
Ensembl chrNW_004955427:25,295,514...25,371,552 		JBrowse link
G Trpm4 transient receptor potential cation channel subfamily M member 4 ISO ClinVar Annotator: match by term: Hereditary bundle branch system defect | ClinVar Annotator: match by term: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA ClinVar PMID:619595 PMID:20562447 PMID:21887725 PMID:23382873 PMID:26350513 More... NCBI chrNW_004955559:1,539,036...1,581,800
Ensembl chrNW_004955559:1,546,365...1,581,712 		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 Gys1 glycogen synthase 1 ISO ClinVar Annotator: match by term: Progressive familial heart block type IB ClinVar PMID:28492532 NCBI chrNW_004955559:1,674,969...1,690,098
Ensembl chrNW_004955559:1,674,969...1,690,098 		JBrowse link
G Hrc histidine rich calcium binding protein ISO ClinVar Annotator: match by term: Progressive familial heart block type 1B | ClinVar Annotator: match by term: Progressive familial heart block type IB ClinVar PMID:619595 PMID:20562447 PMID:21887725 PMID:23382873 PMID:26350513 More... NCBI chrNW_004955559:1,583,661...1,587,457
Ensembl chrNW_004955559:1,583,876...1,587,355 		JBrowse link
G Kcna7 potassium voltage-gated channel subfamily A member 7 ISO ClinVar Annotator: match by term: Progressive familial heart block type IB ClinVar PMID:28492532 NCBI chrNW_004955559:1,641,388...1,645,476
Ensembl chrNW_004955559:1,641,388...1,645,546 		JBrowse link
G Lhb luteinizing hormone subunit beta ISO ClinVar Annotator: match by term: Progressive familial heart block type IB ClinVar PMID:28492532 NCBI chrNW_004955559:1,656,106...1,657,192 JBrowse link
G Lin7b lin-7 homolog B, crumbs cell polarity complex component ISO ClinVar Annotator: match by term: Progressive familial heart block type IB ClinVar PMID:28492532 NCBI chrNW_004955559:1,610,924...1,613,736
Ensembl chrNW_004955559:1,611,004...1,614,320 		JBrowse link
G Ntf4 neurotrophin 4 ISO ClinVar Annotator: match by term: Progressive familial heart block type IB ClinVar PMID:28492532 NCBI chrNW_004955559:1,647,685...1,650,553
Ensembl chrNW_004955559:1,647,685...1,650,553 		JBrowse link
G Ppfia3 PTPRF interacting protein alpha 3 ISO ClinVar Annotator: match by term: Progressive familial heart block type IB ClinVar PMID:28492532 NCBI chrNW_004955559:1,587,633...1,610,065
Ensembl chrNW_004955559:1,587,638...1,610,064 		JBrowse link
G Ruvbl2 RuvB like AAA ATPase 2 ISO ClinVar Annotator: match by term: Progressive familial heart block type IB ClinVar PMID:28492532 NCBI chrNW_004955559:1,657,241...1,674,272
Ensembl chrNW_004955559:1,654,059...1,674,272 		JBrowse link
G Snrnp70 small nuclear ribonucleoprotein U1 subunit 70 ISO ClinVar Annotator: match by term: Progressive familial heart block type IB ClinVar PMID:28492532 NCBI chrNW_004955559:1,618,246...1,634,144
Ensembl chrNW_004955559:1,614,039...1,634,142 		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: TRPM4-related condition OMIM
ClinVar		 PMID:619595 PMID:897853 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chrNW_004955559:1,539,036...1,581,800
Ensembl chrNW_004955559:1,546,365...1,581,712 		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 chrNW_004955408:25,833,649...25,836,673
Ensembl chrNW_004955408:25,832,683...25,836,840 		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 chrNW_004955492:7,863,662...7,874,863
Ensembl chrNW_004955492:7,866,833...7,873,357 		JBrowse link
G Ank2 ankyrin 2 susceptibility ISO RGD PMID:15178757 RGD:1599114 NCBI chrNW_004955457:13,624,590...13,938,427
Ensembl chrNW_004955457:13,624,413...14,076,261 		JBrowse link
G Cacna1d calcium voltage-gated channel subunit alpha1 D ISO CTD Direct Evidence: marker/mechanism CTD PMID:26831068 NCBI chrNW_004955430:3,450,151...3,796,983
Ensembl chrNW_004955430:3,268,953...3,794,592 		JBrowse link
G Coro1a coronin 1A ISO ClinVar Annotator: match by term: Sinus node disease ClinVar NCBI chrNW_004955493:6,815,148...6,820,295
Ensembl chrNW_004955493:6,811,430...6,826,485 		JBrowse link
G Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO OMIM:163800 | OMIM:608567 | OMIM:614090 MouseDO NCBI chrNW_004955446:17,146,915...17,457,843
Ensembl chrNW_004955446:17,151,311...17,457,888 		JBrowse link
G Kcnj5 potassium inwardly rectifying channel subfamily J member 5 ISO CTD Direct Evidence: therapeutic CTD PMID:26831068 NCBI chrNW_004955412:29,850,097...29,874,213
Ensembl chrNW_004955412:29,850,097...29,874,213 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Sick sinus syndrome ClinVar PMID:25741868 PMID:27182706 PMID:29947763 PMID:31847799 PMID:34831398 NCBI chrNW_004955545:2,290,076...2,310,982
Ensembl chrNW_004955545:2,290,037...2,313,033 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19039989 NCBI chrNW_004955469:7,217,233...7,220,401
Ensembl chrNW_004955469:7,217,363...7,220,386 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Sick sinus syndrome | ClinVar Annotator: match by term: Sinus node disease ClinVar PMID:10377081 PMID:10727653 PMID:10961955 PMID:10973849 PMID:11901046 More... NCBI chrNW_004955427:25,295,517...25,371,419
Ensembl chrNW_004955427:25,295,514...25,371,552 		JBrowse link
G Snta1 syntrophin alpha 1 ISO ClinVar Annotator: match by term: Sick sinus syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955422:27,844,699...27,872,104
Ensembl chrNW_004955422:27,844,853...27,871,547 		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 | ClinVar Annotator: match by term: SINUS RHYTHM, CONGENITAL ABSENCE OF | ClinVar Annotator: match by term: Sick sinus syndrome 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1, autosomal recessive
ClinVar Annotator: match by term: Familial sick sinus syndrome | ClinVar Annotator: match by term: SICK SINUS SYNDROME 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1, autosomal recessive
ClinVar Annotator: match by term: SICK SINUS SYNDROME 1 | ClinVar Annotator: match by term: SINUS BRADYCARDIA SYNDROME, FAMILIAL | ClinVar Annotator: match by term: Sick sinus syndrome 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1, autosomal recessive		 ClinVar
OMIM		 PMID:235469 PMID:291807 PMID:461398 PMID:1309946 PMID:2030070 More... NCBI chrNW_004955427:25,295,517...25,371,419
Ensembl chrNW_004955427:25,295,514...25,371,552 		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 susceptibility ISO ClinVar Annotator: match by term: Sick sinus syndrome 2, autosomal dominant ClinVar
OMIM		 PMID:9536098 PMID:12750403 PMID:15123648 PMID:16407510 PMID:17576681 More... NCBI chrNW_004955450:4,139,852...4,181,377
Ensembl chrNW_004955450:4,139,852...4,181,377 		JBrowse link
Sick Sinus Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnb2 G protein subunit beta 2 ISO ClinVar Annotator: match by term: GNB2-related condition | ClinVar Annotator: match by term: Sick sinus syndrome 4 OMIM
ClinVar		 PMID:25741868 PMID:28219978 PMID:31698099 PMID:34183358 NCBI chrNW_004955573:242,815...247,740
Ensembl chrNW_004955573:241,854...247,849 		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 chrNW_004955431:12,782,913...12,833,215
Ensembl chrNW_004955431:12,782,846...12,833,215 		JBrowse link
G Lmna lamin A/C ISO CTD Direct Evidence: marker/mechanism CTD PMID:15996213 NCBI chrNW_004955545:2,290,076...2,310,982
Ensembl chrNW_004955545:2,290,037...2,313,033 		JBrowse link
third-degree atrioventricular block term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcna5 potassium voltage-gated channel subfamily A member 5 ISO ClinVar Annotator: match by term: Third degree atrioventricular block ClinVar PMID:28492532 NCBI chrNW_004955413:2,835,730...2,838,761
Ensembl chrNW_004955413:2,836,146...2,837,966 		JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Third degree atrioventricular block ClinVar NCBI chrNW_004955439:9,131,227...9,574,112 JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 ISO ClinVar Annotator: match by term: Third degree atrioventricular block ClinVar NCBI chrNW_004955496:3,885,684...3,963,056
Ensembl chrNW_004955496:3,885,035...3,926,106 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Third degree atrioventricular block ClinVar PMID:23975875 PMID:25589632 PMID:25741868 PMID:28492532 PMID:31251381 More... NCBI chrNW_004955403:18,057,344...18,328,389 JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Third degree atrioventricular block ClinVar NCBI chrNW_004955485:9,193,838...9,198,697
Ensembl chrNW_004955485:9,191,919...9,198,697 		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 chrNW_004955572:1,423,048...1,464,443
Ensembl chrNW_004955572:1,422,981...1,462,622 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14206
    Pathological Conditions, Signs and Symptoms 11097
      Pathologic Processes 6876
        Cardiac Arrhythmias 684
          Heart Block 62
            Adams-Stokes Syndrome 0
            Atrial Septal Defect with Atrioventricular Conduction Defects + 9
            Bundle-Branch Block + 4
            CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS 1
            Nonprogressive Heart Block 1
            Sinoatrial Block + 2
            atrial standstill 1 3
            atrioventricular block + 29
            congenital heart block + 13
            sick sinus syndrome + 12
Path 2
Term Annotations click to browse term
  disease 14206
    disease of anatomical entity 13864
      cardiovascular system disease 4081
        heart disease 2837
          Cardiac Arrhythmias 684
            Heart Block 62
              Adams-Stokes Syndrome 0
              Atrial Septal Defect with Atrioventricular Conduction Defects + 9
              Bundle-Branch Block + 4
              CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS 1
              Nonprogressive Heart Block 1
              Sinoatrial Block + 2
              atrial standstill 1 3
              atrioventricular block + 29
              congenital heart block + 13
              sick sinus syndrome + 12
paths to the root