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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:sinoatrial node disease
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Accession:DOID:0050824 term browser browse the term
Definition:A heart conduction disease that is characterized by dysfunction of the impulse-generating (pacemaker) tissue located in the right atrium of the heart which generates normal sinus rhythm. (DO)
Synonyms:exact_synonym: SA node;   sinuatrial node
 primary_id: RDO:9002665


show annotations for term's descendants           Sort by:
sinoatrial node disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANK2 ankyrin 2 ISO MouseDO NCBI chr32:32,484,196...33,143,295
Ensembl chr32:32,671,281...33,141,036 		JBrowse link
G CORO1A coronin 1A ISO ClinVar Annotator: match by term: Sinoatrial node disease ClinVar NCBI chr 6:18,161,850...18,167,915
Ensembl chr 6:18,160,601...18,167,818 		JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Sinoatrial node disease ClinVar PMID:10377081 PMID:10727653 PMID:10961955 PMID:10973849 PMID:11901046 More... NCBI chr23:8,278,844...8,374,614
Ensembl chr23:8,280,793...8,358,560 		JBrowse link
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 chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880 		JBrowse link
G ANK2 ankyrin 2 susceptibility ISO RGD PMID:15178757 RGD:1599114 NCBI chr32:32,484,196...33,143,295
Ensembl chr32:32,671,281...33,141,036 		JBrowse link
G CACNA1D calcium voltage-gated channel subunit alpha1 D ISO CTD Direct Evidence: marker/mechanism CTD PMID:26831068 NCBI chr20:36,189,986...36,488,460
Ensembl chr20:36,191,810...36,613,686 		JBrowse link
G CORO1A coronin 1A ISO ClinVar Annotator: match by term: Sinus node disease ClinVar NCBI chr 6:18,161,850...18,167,915
Ensembl chr 6:18,160,601...18,167,818 		JBrowse link
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO OMIM:163800 | OMIM:608567 | OMIM:614090 MouseDO NCBI chr 4:64,777,069...65,162,603
Ensembl chr 4:64,775,577...65,160,444 		JBrowse link
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 ISO CTD Direct Evidence: therapeutic CTD PMID:26831068 NCBI chr 5:5,736,544...5,760,705
Ensembl chr 5:5,740,176...5,760,866 		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 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931 		JBrowse link
G MYH6 myosin heavy chain 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21378987
G POMC proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19039989 NCBI chr17:19,431,396...19,438,247
Ensembl chr17:19,431,585...19,434,440 		JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Sick sinus syndrome | ClinVar Annotator: match by term: Sinus node disease ClinVar PMID:10377081 PMID:10727653 PMID:10961955 PMID:10973849 PMID:11901046 More... NCBI chr23:8,278,844...8,374,614
Ensembl chr23:8,280,793...8,358,560 		JBrowse link
G SNTA1 syntrophin alpha 1 ISO ClinVar Annotator: match by term: Sick sinus syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr24:22,636,716...22,665,828
Ensembl chr24:22,636,756...22,665,741 		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
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
OMIM		 PMID:235469 PMID:291807 PMID:461398 PMID:1309946 PMID:2030070 More... NCBI chr23:8,278,844...8,374,614
Ensembl chr23:8,280,793...8,358,560 		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 term: Sick sinus syndrome 2, autosomal dominant ClinVar
OMIM		 PMID:9536098 PMID:12750403 PMID:15123648 PMID:16407510 PMID:17576681 More... NCBI chr30:36,637,492...36,656,194
Ensembl chr30:36,639,908...36,656,406 		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...
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 chr 6:9,032,536...9,037,734
Ensembl chr 6:9,032,811...9,037,668 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      cardiovascular system disease 4407
        heart disease 3114
          heart conduction disease 397
            sinoatrial node disease 13
              sick sinus syndrome + 13
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      nervous system disease 13207
        peripheral nervous system disease 4038
          neuropathy 3843
            neuromuscular disease 3017
              muscular disease 2130
                muscle tissue disease 1287
                  sinoatrial node disease 13
                    sick sinus syndrome + 13
paths to the root