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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 Node Syndrome;   Sinus Node Disease;   Sinus Node Diseases;   Sinus Node Dysfunction;   sinus node infection
 primary_id: MESH:D012804
 xref: EFO:0004275;   ICD10CM:I49.5;   MONDO:0001823;   NCI:C62243;   NCI:C62244;   OMIM:PS608567;   ORDO:166282
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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 chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
G Ank2 ankyrin 2 susceptibility ISO RGD PMID:15178757 RGD:1599114 NCBI chr 2:215,378,028...215,954,015
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 chr16:5,227,157...5,521,163
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 1:181,295,561...181,300,566
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 2:49,495,771...49,899,983
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 8:30,724,923...30,753,083
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 2:173,939,751...173,960,423
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 chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19039989 NCBI chr 6:26,939,844...26,945,666
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 8:119,220,905...119,318,816
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 3:142,876,285...142,906,737
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: SICK SINUS SYNDROME 1 | 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: 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
CTD
OMIM		 PMID:235469 PMID:291807 PMID:461398 PMID:1309946 PMID:2030070 More... NCBI chr 8:119,220,905...119,318,816
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 8:59,222,206...59,259,626
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 chr15:28,418,120...28,442,316
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 chr12:19,159,002...19,164,021
Ensembl chr12:19,158,973...19,164,019 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      sick sinus syndrome 13
        Sick Sinus Syndrome 1, Autosomal Recessive 1
        Sick Sinus Syndrome 2, Autosomal Dominant 1
        Sick Sinus Syndrome 3 1
        Sick Sinus Syndrome 4 1
        Sinus Node Disease and Myopia 0
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        peripheral nervous system disease 4110
          neuropathy 3895
            neuromuscular disease 3052
              muscular disease 2142
                muscle tissue disease 1289
                  sinoatrial node disease 13
                    sick sinus syndrome 13
                      Sick Sinus Syndrome 1, Autosomal Recessive 1
                      Sick Sinus Syndrome 2, Autosomal Dominant 1
                      Sick Sinus Syndrome 3 1
                      Sick Sinus Syndrome 4 1
                      Sinus Node Disease and Myopia 0
paths to the root