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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:Sinus Arrhythmia
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Accession:DOID:9002907 term browser browse the term
Definition:Irregular HEART RATE caused by abnormal function of the SINOATRIAL NODE. It is characterized by a greater than 10% change between the maximum and the minimum sinus cycle length or 120 milliseconds.
Synonyms:exact_synonym: Sinoatrial Arrhythmia;   Sinoatrial Arrhythmias;   Sinus Arrhythmias
 primary_id: MESH:D001146
 alt_id: RDO:0004907


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 chr19:69,426,540...69,447,017
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
G Ank2 ankyrin 2 susceptibility ISO RGD PMID:15178757 RGD:1599114 NCBI chr 2:218,052,555...218,628,414
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 chr16:5,233,682...5,527,549
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 1:190,726,129...190,731,133
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 2:51,228,710...51,632,806
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 8:38,981,598...39,011,197
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 2:176,237,564...176,265,301
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 chr15:32,388,102...32,413,663
Ensembl chr15:28,417,616...28,441,720 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19039989 NCBI chr 6:32,659,137...32,665,175
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 8:128,098,613...128,196,515
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 3:163,336,509...163,366,954
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 Annotator: match by term: Familial sick sinus syndrome | ClinVar Annotator: match by term: SICK SINUS SYNDROME 1 | ClinVar Annotator: match by term: SINUS NODE DISEASE, FAMILIAL, AUTOSOMAL RECESSIVE | 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: Familial sick sinus syndrome | 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
CTD
OMIM		 PMID:235469 PMID:235504 PMID:291807 PMID:461398 PMID:748006 More... NCBI chr 8:128,098,613...128,196,515
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
OMIM
ClinVar		 PMID:9536098 PMID:12750403 PMID:15123648 PMID:16407510 PMID:17576681 More... NCBI chr 8:68,118,062...68,155,482
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 chr15:32,388,102...32,413,663
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 chr12:24,795,505...24,800,796
Ensembl chr12:19,158,973...19,164,019 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    Pathological Conditions, Signs and Symptoms 13625
      Pathologic Processes 8329
        Cardiac Arrhythmias 778
          Sinus Arrhythmia 13
            Cardiac Sinus Arrest 0
            sick sinus syndrome + 13
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      respiratory system disease 5245
        thoracic disease 4049
          heart disease 3476
            Cardiac Arrhythmias 778
              Sinus Arrhythmia 13
                Cardiac Sinus Arrest 0
                sick sinus syndrome + 13
paths to the root