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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: ICD10CM:I49.5;   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 Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 ISS OMIM:163800 | OMIM:608567 | OMIM:614090 MouseDO NCBI chr 2:49,495,771...49,899,702
Ensembl chr 2:49,495,771...49,899,774
JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 ISS OMIM:163800 | OMIM:608567 | OMIM:614090 MouseDO NCBI chr 8:59,222,206...59,259,626
Ensembl chr 8:59,221,653...59,259,639
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 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 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 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, autosomal recessive
ClinVar Annotator: match by term: SICK SINUS SYNDROME 1
OMIM
ClinVar
PMID:2107088 PMID:8661019 PMID:9536098 PMID:10508990 PMID:10807545 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 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:19748888 PMID:20662977 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 ClinVar
OMIM
PMID:15998695 PMID:20215591 PMID:20656787 PMID:21378987 PMID:21483645 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: SICK SINUS SYNDROME 4 OMIM
ClinVar
PMID:28219978 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 17256
    syndrome 8152
      sick sinus syndrome 11
        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 17256
    disease of anatomical entity 16600
      nervous system disease 12140
        peripheral nervous system disease 2559
          neuropathy 2355
            neuromuscular disease 1875
              muscular disease 1280
                muscle tissue disease 828
                  sinoatrial node disease 11
                    sick sinus syndrome 11
                      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