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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:atrioventricular block
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Accession:DOID:0050820 term browser browse the term
Definition:A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart. (DO)
Synonyms:exact_synonym: AV block;   AV blocks;   Atrioventricular Blocks;   Atrioventricular Conduction Block;   Atrioventricular Conduction Blocks
 related_synonym: AV Block Third Degree Adverse Event
 primary_id: MESH:D054537
 xref: ICD10CM:I44.3;   ICD9CM:426.10;   NCI:C26703
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
atrioventricular block term browser
Symbol Object Name 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
atrial heart septal defect 7 term browser
Symbol Object Name 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
first-degree atrioventricular block term browser
Symbol Object Name 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
progressive familial heart block term browser
Symbol Object Name 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 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 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 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 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
third-degree atrioventricular block term browser
Symbol Object Name 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      cardiovascular system disease 4483
        heart disease 2666
          heart conduction disease 299
            atrioventricular block 12
              atrial heart septal defect 7 1
              congenital heart block + 4
              first-degree atrioventricular block 1
              second-degree atrioventricular block + 1
              third-degree atrioventricular block 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      cardiovascular system disease 4483
        heart disease 2666
          Cardiac Arrhythmias 591
            Heart Block 33
              atrioventricular block 12
                atrial heart septal defect 7 1
                congenital heart block + 4
                first-degree atrioventricular block 1
                second-degree atrioventricular block + 1
                third-degree atrioventricular block 1
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.