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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:15998695 PMID:20215591 PMID:20656787 PMID:21378987 PMID:21483645 PMID:23861362 PMID:24033266 PMID:25163546 PMID:25351510 PMID:25717017 PMID:25741868 PMID:28166811 PMID:28492532 PMID:28600387 PMID:28771489 PMID:28797094 PMID:28991257 PMID:29590334 PMID:32004434 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
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:9536098 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:12123767 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:17442746 PMID:17576681 PMID:17587741 PMID:17605181 PMID:17646591 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: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:21273195 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:24815523 PMID:24895455 PMID:24951663 PMID:25051102 PMID:25065297 PMID:25102755 PMID:25171853 PMID:25172307 PMID:25179549 PMID:25210526 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:26733869 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:28166811 PMID:28202948 PMID:28265756 PMID:28301460 PMID:28341588 PMID:28359509 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:28988457 PMID:29032884 PMID:29167113 PMID:29202755 PMID:29247119 PMID:29306897 PMID:29331327 PMID:29431662 PMID:29449963 PMID:29540472 PMID:29544605 PMID:29574140 PMID:29672598 PMID:29728395 PMID:29764897 PMID:29790872 PMID:29997009 PMID:30079003 PMID:30086531 PMID:30146492 PMID:30193851 PMID:30364184 PMID:30419068 PMID:30662450 PMID:31019283 PMID:31043699 PMID:31337358 PMID:31737537 PMID:32048431 PMID:32470535 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 16929
    syndrome 7653
      sick sinus syndrome 10
        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 16929
    disease of anatomical entity 16296
      nervous system disease 11871
        peripheral nervous system disease 2422
          neuropathy 2233
            neuromuscular disease 1779
              muscular disease 1190
                muscle tissue disease 813
                  sinoatrial node disease 10
                    sick sinus syndrome 10
                      Sick Sinus Syndrome 1, Autosomal Recessive 1
                      Sick Sinus Syndrome 2, Autosomal Dominant 1
                      Sinus Node Disease and Myopia 0
paths to the root