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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: MIM:209600


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 chr 4:177,262,848...177,386,837
Ensembl chr 4:175,532,547...175,655,356 		JBrowse link
G Akap10 A-kinase anchoring protein 10 ISO ClinVar Annotator: match by term: Conduction disorder of the heart ClinVar PMID:25741868 NCBI chr10:47,044,819...47,108,153
Ensembl chr10:46,551,532...46,608,769 		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 chr 2:218,052,555...218,628,414
Ensembl chr 2:215,379,680...215,862,923 		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 4:153,431,169...154,051,932
Ensembl chr 4:151,764,138...152,379,648 		JBrowse link
G Cacna1d calcium voltage-gated channel subunit alpha1 D ISO CTD Direct Evidence: marker/mechanism CTD PMID:26831068 NCBI chr16:5,233,682...5,527,549
Ensembl chr16:5,228,306...5,668,215 		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 chr 2:192,214,556...192,270,821
Ensembl chr 2:189,525,960...189,582,267 		JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Conduction disorder of the heart ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:51,070,098...53,437,845
Ensembl chr  X:47,272,331...49,504,207 		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 chr18:12,121,287...12,179,590
Ensembl chr18:11,846,183...11,904,156 		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 chr17:26,829,153...26,877,419
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
G Egr1 early growth response 1 ISO mRNA:increased expression:heart (mouse) RGD PMID:15809371 RGD:5131924 NCBI chr18:26,737,078...26,740,877
Ensembl chr18:26,462,981...26,466,766 		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 chr 4:58,999,445...59,027,240
Ensembl chr 4:58,034,189...58,061,844 		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 chr10:85,800,812...85,827,881
Ensembl chr10:85,300,440...85,327,057 		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 chr 4:11,719,357...11,751,424
Ensembl chr 4:10,826,928...10,859,008 		JBrowse link
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO CTD Direct Evidence: therapeutic CTD PMID:26831068 NCBI chr 8:38,981,598...39,011,197
Ensembl chr 8:30,724,925...30,753,518 		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 chr 1:207,721,134...208,054,073
Ensembl chr 1:198,291,766...198,624,669 		JBrowse link
G Lmna lamin A/C ISO CTD Direct Evidence: marker/mechanism CTD PMID:15996213 NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:173,939,751...173,960,423 		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:203979 PMID:2943217 PMID:9536098 PMID:15519027 PMID:16858239 More... NCBI chr 3:97,550,974...97,569,216
Ensembl chr 3:77,095,252...77,113,405 		JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Conduction disorder of the heart ClinVar PMID:25741868 NCBI chr15:32,388,102...32,413,663
Ensembl chr15:28,417,616...28,441,720 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Conduction disorder of the heart ClinVar PMID:16199547 PMID:25741868 PMID:28492532 PMID:29343803 PMID:36923113 NCBI chr15:32,416,525...32,439,851
Ensembl chr15:28,446,550...28,468,217 		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 chr11:98,165,974...98,231,916
Ensembl chr11:84,661,783...84,727,730 		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 1:262,671,311...262,912,551
Ensembl chr 1:252,683,771...252,886,060 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Heart block ClinVar PMID:16835904 PMID:24033266 PMID:25741868 NCBI chr 1:93,420,078...93,551,305
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Conduction disorder of the heart ClinVar PMID:12459180 PMID:19926015 PMID:21964171 PMID:23204524 PMID:23396983 More... NCBI chr17:63,081,527...63,667,141
Ensembl chr17:58,389,925...58,975,142 		JBrowse link
G Scn10a sodium voltage-gated channel alpha subunit 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062061 NCBI chr 8:128,228,424...128,340,749
Ensembl chr 8:119,350,724...119,462,614 		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 chr 8:128,098,613...128,196,515
Ensembl chr 8:119,220,905...119,318,769 		JBrowse link
G Sox6 SRY-box transcription factor 6 ISO RGD PMID:10760285 RGD:1580857 NCBI chr 1:179,157,678...179,769,243
Ensembl chr 1:169,729,194...170,277,386 		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 1:104,918,462...104,949,453
Ensembl chr 1:95,782,000...95,812,532 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Conduction disorder of the heart ClinVar PMID:25741868 NCBI chr 3:82,059,648...82,332,130
Ensembl chr 3:61,652,439...61,924,741 		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 chr18:12,216,684...12,225,972
Ensembl chr18:11,943,789...11,951,008 		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 chr10:16,984,084...17,007,156
Ensembl chr10:16,479,567...16,524,434 		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 chr10:16,891,317...16,903,561
Ensembl chr10:16,386,841...16,399,157 		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 chr10:16,903,607...16,967,450
Ensembl chr10:16,404,596...16,461,999 		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 chr10:17,184,853...17,187,646 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 chr10:17,035,615...17,131,411
Ensembl chr10:16,531,194...16,626,957 		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 chr10:17,258,317...17,289,362
Ensembl chr10:16,757,208...16,785,119 		JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO
ISS		 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:108900		 OMIM
ClinVar
MouseDO		 PMID:1260978 PMID:9536098 PMID:9651244 PMID:10587520 PMID:10903346 More... NCBI chr10:16,844,888...16,851,458
Ensembl chr10:16,344,159...16,346,934 		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 chr10:16,520,383...16,524,604 JBrowse link
G Sh3pxd2b SH3 and PX domains 2B 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 chr10:17,422,906...17,538,977
Ensembl chr10:16,918,679...17,005,170 		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 chr10:16,755,508...16,765,275
Ensembl chr10:16,250,853...16,262,973 		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 chr10:16,984,084...17,007,156
Ensembl chr10:16,479,567...16,524,434 		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 chr10:16,891,317...16,903,561
Ensembl chr10:16,386,841...16,399,157 		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 chr10:16,903,607...16,967,450
Ensembl chr10:16,404,596...16,461,999 		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 chr10:17,184,853...17,187,646 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 chr10:17,035,615...17,131,411
Ensembl chr10:16,531,194...16,626,957 		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 chr10:17,258,317...17,289,362
Ensembl chr10:16,757,208...16,785,119 		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 chr10:16,844,888...16,851,458
Ensembl chr10:16,344,159...16,346,934 		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 chr10:16,520,383...16,524,604 JBrowse link
G Sh3pxd2b SH3 and PX domains 2B 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 chr10:17,422,906...17,538,977
Ensembl chr10:16,918,679...17,005,170 		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 chr10:16,755,508...16,765,275
Ensembl chr10:16,250,853...16,262,973 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9588401 PMID:16790700 PMID:20650941 PMID:20818502 PMID:21921585 More... NCBI chr 2:187,291,227...187,310,770
Ensembl chr 2:184,564,475...184,621,952 		JBrowse link
G Nppa natriuretic peptide A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:163,712,184...163,713,493
Ensembl chr 5:158,429,042...158,430,351 		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 chr 8:128,098,613...128,196,515
Ensembl chr 8:119,220,905...119,318,769 		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 8:117,167,045...117,187,652
Ensembl chr 8:108,288,401...108,308,979 		JBrowse link
G Lmna lamin A/C ISO DNA:missense mutation:cds:p.G613A (human)
ClinVar Annotator: match by term: AV block
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:10580070 PMID:17377071 PMID:23183350 PMID:24033266 PMID:25741868 More... RGD:12791032 NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: AV Block Third Degree Adverse Event ClinVar PMID:9536098 PMID:17576681 PMID:28492532 NCBI chr15:32,388,102...32,413,663
Ensembl chr15:28,417,616...28,441,720 		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 chr10:16,844,888...16,851,458
Ensembl chr10:16,344,159...16,346,934 		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 chr 8:128,098,613...128,196,515
Ensembl chr 8:119,220,905...119,318,769 		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 chr 1:104,918,462...104,949,453
Ensembl chr 1:95,782,000...95,812,532 		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 chr 1:90,295,495...90,305,047
Ensembl chr 1:81,166,023...81,177,265 		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:24714796 PMID:25163546 PMID:25741868 More... NCBI chr15:32,416,525...32,439,851
Ensembl chr15:28,446,550...28,468,217 		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 chr 8:128,098,613...128,196,515
Ensembl chr 8:119,220,905...119,318,769 		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: Progressive familial heart block ClinVar PMID:23861362 PMID:25741868 PMID:28404607 PMID:28492532 PMID:30615648 NCBI chr 2:192,214,556...192,270,821
Ensembl chr 2:189,525,960...189,582,267 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Progressive familial heart block ClinVar PMID:25741868 NCBI chr17:26,829,153...26,877,419
Ensembl chr17:26,623,588...26,671,800 		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 chr 1:104,949,750...104,953,475
Ensembl chr 1:95,813,253...95,816,984 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Cardiac conduction defect progressive | ClinVar Annotator: match by term: Hereditary bundle branch system defect | ClinVar Annotator: match by term: Progressive familial heart block ClinVar PMID:235469 PMID:235504 PMID:291807 PMID:461398 PMID:748006 More... NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:119,220,905...119,318,769 		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:25741868 More... NCBI chr 1:104,918,462...104,949,453
Ensembl chr 1:95,782,000...95,812,532 		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 chr 1:104,949,750...104,953,475
Ensembl chr 1:95,813,253...95,816,984 		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:235504 PMID:291807 PMID:461398 PMID:748006 More... NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:119,220,905...119,318,769 		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 chr 1:104,918,462...104,949,453
Ensembl chr 1:95,782,000...95,812,532 		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 chr 1:104,949,750...104,953,475
Ensembl chr 1:95,813,253...95,816,984 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISS
ISO		 OMIM:113900
ClinVar Annotator: match by term: Hereditary bundle branch system defect | ClinVar Annotator: match by term: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA		 MouseDO
ClinVar
OMIM		 PMID:235469 PMID:235504 PMID:291807 PMID:461398 PMID:748006 More... NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:119,220,905...119,318,769 		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 chr 1:104,918,462...104,949,453
Ensembl chr 1:95,782,000...95,812,532 		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 chr 1:105,051,916...105,071,763
Ensembl chr 1:95,915,443...95,935,292 		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 chr 1:104,949,750...104,953,475
Ensembl chr 1:95,813,253...95,816,984 		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 chr 1:105,022,549...105,028,041
Ensembl chr 1:95,886,073...95,891,565 		JBrowse link
G Lhb luteinizing hormone subunit beta ISO ClinVar Annotator: match by term: Progressive familial heart block type IB ClinVar PMID:28492532 NCBI chr 1:105,037,457...105,038,446
Ensembl chr 1:95,900,984...95,901,972
Ensembl chr 1:95,900,984...95,901,972 		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 chr 1:104,983,368...104,986,795
Ensembl chr 1:95,846,243...95,849,977 		JBrowse link
G Ntf4 neurotrophin 4 ISO ClinVar Annotator: match by term: Progressive familial heart block type IB ClinVar PMID:28492532 NCBI chr 1:105,030,035...105,032,866
Ensembl chr 1:95,893,457...95,897,243 		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 chr 1:104,953,598...104,982,373
Ensembl chr 1:95,817,110...95,845,798 		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 chr 1:105,038,487...105,051,851
Ensembl chr 1:95,901,701...95,915,342 		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 chr 1:104,992,518...105,012,851
Ensembl chr 1:95,856,036...95,876,392 		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 disorder
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:619595 PMID:897853 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr 1:104,918,462...104,949,453
Ensembl chr 1:95,782,000...95,812,532 		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 chr19:69,426,540...69,447,017
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
G Ank2 ankyrin 2 susceptibility ISO RGD PMID:15178757 RGD:1599114 NCBI chr 2:218,052,555...218,628,414
Ensembl chr 2:215,379,680...215,862,923 		JBrowse link
G Cacna1d calcium voltage-gated channel subunit alpha1 D ISO CTD Direct Evidence: marker/mechanism CTD PMID:26831068 NCBI chr16:5,233,682...5,527,549
Ensembl chr16:5,228,306...5,668,215 		JBrowse link
G Coro1a coronin 1A ISO ClinVar Annotator: match by term: Sinus node disease ClinVar NCBI chr 1:190,726,129...190,731,133
Ensembl chr 1:181,295,562...181,300,534 		JBrowse link
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 ISS OMIM:163800 | OMIM:608567 | OMIM:614090 MouseDO NCBI chr 2:51,228,710...51,632,806
Ensembl chr 2:49,495,771...49,899,774 		JBrowse link
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO CTD Direct Evidence: therapeutic CTD PMID:26831068 NCBI chr 8:38,981,598...39,011,197
Ensembl chr 8:30,724,925...30,753,518 		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 chr 2:176,237,564...176,265,301
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Myh6 myosin heavy chain 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21378987 NCBI chr15:32,388,102...32,413,663
Ensembl chr15:28,417,616...28,441,720 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19039989 NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISS
ISO		 OMIM:163800 | OMIM:608567 | OMIM:614090
ClinVar Annotator: match by term: Sick sinus syndrome | ClinVar Annotator: match by term: Sinus node disease		 MouseDO
ClinVar		 PMID:10377081 PMID:10727653 PMID:10961955 PMID:10973849 PMID:11901046 More... NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:119,220,905...119,318,769 		JBrowse link
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: Sick sinus syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:163,336,509...163,366,954
Ensembl chr 3:142,876,296...142,906,709 		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: 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: SINUS NODE DISEASE, FAMILIAL, AUTOSOMAL RECESSIVE | 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
CTD Direct Evidence: marker/mechanism
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
OMIM
CTD		 PMID:235469 PMID:235504 PMID:291807 PMID:461398 PMID:748006 More... NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:119,220,905...119,318,769 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sick sinus syndrome 2, autosomal dominant		 CTD
ClinVar
OMIM		 PMID:9536098 PMID:12750403 PMID:15123648 PMID:16407510 PMID:17576681 More... NCBI chr 8:68,118,062...68,155,482
Ensembl chr 8:59,221,653...59,259,639 		JBrowse link
Sick Sinus Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Sick sinus syndrome 3, susceptibility to OMIM
ClinVar		 PMID:9536098 PMID:11815426 PMID:15998695 PMID:16199547 PMID:17576681 More... NCBI chr15:32,388,102...32,413,663
Ensembl chr15:28,417,616...28,441,720 		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 chr12:24,795,505...24,800,796
Ensembl chr12:19,158,973...19,164,019 		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 chr12:5,326,003...5,367,016
Ensembl chr12:490,399...530,080 		JBrowse link
G Lmna lamin A/C ISO CTD Direct Evidence: marker/mechanism CTD PMID:15996213 NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:173,939,751...173,960,423 		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 chr 4:161,040,853...161,044,311
Ensembl chr 4:159,350,097...159,357,697 		JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Third degree atrioventricular block ClinVar NCBI chr 1:43,917,640...44,388,802
Ensembl chr 1:41,512,030...41,983,322 		JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 ISO ClinVar Annotator: match by term: Third degree atrioventricular block ClinVar NCBI chr 2:224,662,654...224,746,819
Ensembl chr 2:221,988,645...222,072,534 		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 chr 3:82,059,648...82,332,130
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Third degree atrioventricular block ClinVar NCBI chr 1:253,817,074...253,823,958
Ensembl chr 1:243,868,330...243,874,802 		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:122,038,734...122,087,745
Ensembl chr  X:117,057,606...117,260,522 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    Pathological Conditions, Signs and Symptoms 13625
      Pathologic Processes 8329
        Cardiac Arrhythmias 778
          Heart Block 65
            Adams-Stokes Syndrome 0
            Atrial Septal Defect with Atrioventricular Conduction Defects + 10
            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 + 32
            congenital heart block + 13
            sick sinus syndrome + 13
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      respiratory system disease 5245
        thoracic disease 4049
          heart disease 3476
            Cardiac Arrhythmias 778
              Heart Block 65
                Adams-Stokes Syndrome 0
                Atrial Septal Defect with Atrioventricular Conduction Defects + 10
                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 + 32
                congenital heart block + 13
                sick sinus syndrome + 13
paths to the root