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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:sick sinus syndrome
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Accession:DOID:13884 term browser browse the term
Definition:A condition caused by dysfunctions related to the SINOATRIAL NODE including impulse generation (CARDIAC SINUS ARREST) and impulse conduction (SINOATRIAL EXIT BLOCK). It is characterized by persistent BRADYCARDIA, chronic ATRIAL FIBRILLATION, and failure to resume sinus rhythm following CARDIOVERSION. This syndrome can be congenital or acquired, particularly after surgical correction for heart defects.
Synonyms:exact_synonym: Dysfunctions, Sinus Node;   SICK SINUS SYNDROME 3, SUSCEPTIBILITY TO;   SSS3;   Sick Sinus Node Syndrome;   Sinus Node Disease;   Sinus Node Diseases;   Sinus Node Dysfunction;   sinus node infection
 primary_id: MESH:D012804
 alt_id: OMIM:614090;   RDO:0006573
 xref: ICD10CM:I49.5;   NCI:C62244;   OMIM:PS608567;   ORDO:166282
For additional species annotation, visit the Alliance of Genome Resources.


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sick sinus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen ISO DNA:SNP:promoter:-6G>A (human) RGD PMID:22242192 RGD:8548870 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Ank2 ankyrin 2 susceptibility ISO RGD PMID:15178757 RGD:1599114 NCBI chr 2:231,224,643...231,522,655
Ensembl chr 2:231,226,949...231,648,122
JBrowse link
G Cacna1d calcium voltage-gated channel subunit alpha1 D ISO CTD Direct Evidence: marker/mechanism CTD PMID:26831068 NCBI chr16:6,110,294...6,405,022
Ensembl chr16:6,112,150...6,405,117
JBrowse link
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 ISS OMIM:163800 | OMIM:608567 | OMIM:614090 MouseDO NCBI chr 2:50,099,576...50,499,799
Ensembl chr 2:50,099,576...50,499,799
JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 ISS OMIM:163800 | OMIM:608567 | OMIM:614090 MouseDO NCBI chr 8:63,599,907...63,637,327
Ensembl chr 8:63,600,663...63,639,654
JBrowse link
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO CTD Direct Evidence: therapeutic CTD PMID:26831068 NCBI chr 8:33,435,493...33,463,410
Ensembl chr 8:33,433,905...33,463,467
JBrowse link
G Myh6 myosin heavy chain 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sick sinus syndrome 3, susceptibility to
CTD
ClinVar
OMIM
PMID:20656787, PMID:21378987, PMID:24033266, PMID:25163546, PMID:25351510, PMID:25717017, PMID:25741868, PMID:28492532, PMID:28600387, PMID:28771489, PMID:28797094, PMID:28991257, PMID:29590334 NCBI chr15:33,605,653...33,629,730
Ensembl chr15:33,605,654...33,629,699
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19039989 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO
ISS
ClinVar Annotator: match by term: Sick sinus syndrome
ClinVar Annotator: match by term: Sinus node disease
OMIM:163800 | OMIM:608567 | OMIM:614090
ClinVar
MouseDO
PMID:10377081, PMID:10727653, PMID:10961955, PMID:10973849, PMID:11901046, PMID:12877697, PMID:14523039, PMID:15840476, PMID:16379539, PMID:16453024, PMID:18451998, PMID:18452873, PMID:18508782, PMID:19716085, PMID:19841300, PMID:20110800, PMID:20129283, PMID:20384651, PMID:20448214, PMID:20539757, PMID:21321465, PMID:22090166, PMID:22370247, PMID:22581653, PMID:23631430, PMID:24033266, PMID:24762805, PMID:24784157, PMID:24871449, PMID:25348405, PMID:25741868, PMID:25904541, PMID:26467025, PMID:27381756, PMID:28492532, PMID:28781849 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: Sick sinus syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:149,874,023...149,905,980
Ensembl chr 3:149,874,030...149,905,944
JBrowse link
G Tcap titin-cap ISO ClinVar Annotator: match by term: Sick sinus syndrome ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr10:86,337,705...86,338,414
Ensembl chr10:86,337,728...86,338,411
JBrowse link
Sick Sinus Syndrome 1, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Sick sinus syndrome 1, autosomal recessive
ClinVar Annotator: match by term: SICK SINUS SYNDROME 1
OMIM
ClinVar
PMID:2107088, PMID:8661019, PMID:10508990, PMID:10807545, PMID:10961955, PMID:10966831, PMID:10973849, PMID:11463728, PMID:11710892, PMID:11748104, PMID:11804990, PMID:11823453, PMID:11901046, PMID:11960580, PMID:11997281, PMID:12193783, PMID:12354768, PMID:12471205, PMID:12566525, PMID:12569159, PMID:12639704, PMID:12820704, PMID:14500339, PMID:14523039, PMID:14760488, PMID:14967853, PMID:14985827, PMID:15121794, PMID:15161528, PMID:15176425, PMID:15338453, PMID:15466642, PMID:15556047, PMID:15599693, PMID:15671429, PMID:15689442, PMID:15840476, PMID:15840483, PMID:15851227, PMID:15851440, PMID:15992732, PMID:15996170, PMID:15998675, PMID:16061744, PMID:16132053, PMID:16155735, PMID:16239976, PMID:16267253, PMID:16325048, PMID:16379539, PMID:16414944, PMID:16453014, PMID:16453024, PMID:16540748, PMID:16568155, PMID:16611632, PMID:16707561, PMID:16712702, PMID:16731473, PMID:16922724, PMID:17161064, PMID:17185997, PMID:17210839, PMID:17210841, PMID:17227473, PMID:17275750, PMID:17331104, PMID:17368591, PMID:17587741, PMID:17605181, PMID:17646591, PMID:17675083, PMID:17892895, PMID:17905336, PMID:17908752, PMID:17967976, PMID:17993325, PMID:18071069, PMID:18088563, PMID:18093912, PMID:18156160, PMID:18245395, PMID:18361072, PMID:18362431, PMID:18368697, PMID:18378609, PMID:18426444, PMID:18451998, PMID:18452873, PMID:18452875, PMID:18456723, PMID:18508782, PMID:18849657, PMID:18976777, PMID:19026623, PMID:19027780, PMID:19056759, PMID:19083750, PMID:19251209, PMID:19302788, PMID:19305408, PMID:19305409, PMID:19322600, PMID:19406494, PMID:19412328, PMID:19597050, PMID:19666841, PMID:19716085, PMID:19799913, PMID:19841298, PMID:19841300, PMID:19996378, PMID:20102864, PMID:20123697, PMID:20129283, PMID:20384651, PMID:20403459, PMID:20448214, PMID:20470418, PMID:20486126, PMID:20539757, PMID:20609320, PMID:20636320, PMID:20875080, PMID:20981092, PMID:21051419, PMID:21070882, PMID:21109022, PMID:21126620, PMID:21167004, PMID:21321465, PMID:21325150, PMID:21385947, PMID:21410720, PMID:21498565, PMID:21596231, PMID:21621375, PMID:21622575, PMID:21705349, PMID:21726068, PMID:22338672, PMID:22360817, PMID:22373669, PMID:22378279, PMID:22519808, PMID:22581653, PMID:22677073, PMID:22682427, PMID:22685113, PMID:22840528, PMID:22885917, PMID:22984773, PMID:22995991, PMID:23008441, PMID:23091201, PMID:23098067, PMID:23174487, PMID:23299917, PMID:23382499, PMID:23414114, PMID:23465283, PMID:23503384, PMID:23571586, PMID:23631430, PMID:23714088, PMID:23805106, PMID:23838598, PMID:23853484, PMID:23861362, PMID:23874304, PMID:23936059, PMID:24033266, PMID:24055113, PMID:24059039, PMID:24136861, PMID:24144883, PMID:24317018, PMID:24332150, PMID:24400668, PMID:24463578, PMID:24529773, PMID:24606995, PMID:24613995, PMID:24631775, PMID:24653702, PMID:24667783, PMID:24681144, PMID:24721456, PMID:24721642, PMID:24736382, PMID:24762805, PMID:24784157, PMID:24895455, PMID:24951663, PMID:25051102, PMID:25065297, PMID:25102755, PMID:25171853, PMID:25172307, PMID:25210526, PMID:25348405, PMID:25351510, PMID:25410959, PMID:25554238, PMID:25637381, PMID:25741868, PMID:25757662, PMID:25815641, PMID:25829473, PMID:25904541, PMID:25923670, PMID:26129877, PMID:26131924, PMID:26159999, PMID:26173111, PMID:26209461, PMID:26213684, PMID:26220391, PMID:26282245, PMID:26332594, PMID:26406308, PMID:26467025, PMID:26636822, PMID:26743238, PMID:26746457, PMID:26749013, PMID:26822237, PMID:26884609, PMID:27066507, PMID:27077130, PMID:27153395, PMID:27287068, PMID:27332903, PMID:27381756, PMID:27435932, PMID:27554632, PMID:27566755, PMID:27707468, PMID:27711072, PMID:27896284, PMID:28069705, PMID:28074886, PMID:28087566, PMID:28202948, PMID:28265756, PMID:28301460, PMID:28341588, PMID:28412158, PMID:28416588, PMID:28472724, PMID:28491758, PMID:28492532, PMID:28493952, PMID:28498465, PMID:28567303, PMID:28638671, PMID:28725320, PMID:28781330, PMID:28831623, PMID:28834665, PMID:29032884, PMID:29167113, PMID:29202755, PMID:29247119, PMID:29306897, PMID:29331327, PMID:29431662, PMID:29540472, PMID:29574140, PMID:29672598, PMID:29728395, PMID:29764897, PMID:29997009, PMID:30079003, PMID:30086531, PMID:30146492, PMID:30311386, PMID:30364184, PMID:30419068, PMID:30662450 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
Sick Sinus Syndrome 2, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 ISO ClinVar Annotator: match by OMIM:163800
ClinVar Annotator: match by null
ClinVar Annotator: match by term: Sick sinus syndrome 2, autosomal dominant
OMIM
ClinVar
PMID:12750403, PMID:15123648, PMID:16407510, PMID:17646576, PMID:19748888, PMID:20662977, PMID:20693575, PMID:21615589, PMID:23075627, PMID:23623143, PMID:23631727, PMID:23861362, PMID:24033266, PMID:24492017, PMID:24569893, PMID:25145517, PMID:25145518, PMID:25145519, PMID:25467552, PMID:25642760, PMID:25741868, PMID:26467025, PMID:27173043, PMID:27182706, PMID:27439367, PMID:27553229, PMID:27659478, PMID:28086167, PMID:28104484, PMID:28182231, PMID:28204831, PMID:28254188, PMID:28254189, PMID:28341588, PMID:28350118, PMID:28492532 NCBI chr 8:63,599,907...63,637,327
Ensembl chr 8:63,600,663...63,639,654
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      sick sinus syndrome 11
        Sick Sinus Syndrome 1, Autosomal Recessive 1
        Sick Sinus Syndrome 2, Autosomal Dominant 1
        Sinus Node Disease and Myopia 0
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        peripheral nervous system disease 2475
          neuropathy 2296
            neuromuscular disease 1777
              muscular disease 1199
                muscle tissue disease 811
                  sinoatrial node disease 11
                    sick sinus syndrome 11
                      Sick Sinus Syndrome 1, Autosomal Recessive 1
                      Sick Sinus Syndrome 2, Autosomal Dominant 1
                      Sinus Node Disease and Myopia 0
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.