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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:Sudden Cardiac Death
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Accession:DOID:9007925 term browser browse the term
Definition:Unexpected rapid natural death due to cardiovascular collapse within one hour of initial symptoms. It is usually caused by the worsening of existing heart diseases. The sudden onset of symptoms, such as CHEST PAIN and CARDIAC ARRHYTHMIAS, particularly VENTRICULAR TACHYCARDIA, can lead to the loss of consciousness and cardiac arrest followed by biological death. (from Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine, 7th ed., 2005)
Synonyms:exact_synonym: sudden cardiac arrest;   sudden cardiac arrests
 related_synonym: FAMILY HISTORY OF SUDDEN CARDIAC DEATH
 primary_id: MESH:D016757
 xref: EFO:0004278

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Sudden Cardiac Death term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsl3 acyl-CoA synthetase long chain family member 3 disease_progression ISO RGD PMID:22661490 RGD:13831296 NCBI chrNW_004624823:2,323,939...2,387,213
Ensembl chrNW_004624823:2,324,345...2,381,420 		JBrowse link
G Adra2b adrenoceptor alpha 2B ISO RGD PMID:12535806 RGD:1559314 NCBI chrNW_004624749:2,226,809...2,230,413
Ensembl chrNW_004624749:2,226,738...2,230,381 		JBrowse link
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chrNW_004624809:1,101,941...1,258,402
Ensembl chrNW_004624809:1,103,538...1,257,809 		JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Sudden cardiac arrest | ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624838:6,490,434...7,023,945
Ensembl chrNW_004624838:6,548,159...7,023,945 		JBrowse link
G Apob apolipoprotein B ISO RGD PMID:17045270 RGD:1601197 NCBI chrNW_004624738:3,579,747...3,622,508
Ensembl chrNW_004624738:3,580,033...3,620,192 		JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624735:10,201,030...10,927,349
Ensembl chrNW_004624735:10,201,526...10,432,896 		JBrowse link
G Cep85l centrosomal protein 85 like ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:12639993 PMID:16235537 PMID:17655857 PMID:21167350 PMID:21332051 More... NCBI chrNW_004624798:11,482,163...11,592,698
Ensembl chrNW_004624798:11,482,438...11,593,028 		JBrowse link
G Dpp6 dipeptidyl peptidase like 6 ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar NCBI chrNW_004624800:2,725,353...3,585,987
Ensembl chrNW_004624800:2,725,253...3,585,409 		JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:25741868 NCBI chrNW_004624770:1,315,021...1,363,472
Ensembl chrNW_004624770:1,313,916...1,364,153 		JBrowse link
G Dsp desmoplakin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20435227 NCBI chrNW_004624756:18,036,103...18,083,379
Ensembl chrNW_004624756:18,035,892...18,083,336 		JBrowse link
G Gja1 gap junction protein alpha 1 treatment ISO RGD PMID:22093512 RGD:12910124 NCBI chrNW_004624798:9,358,996...9,364,413
Ensembl chrNW_004624798:9,359,004...9,364,313 		JBrowse link
G Gpd1l glycerol-3-phosphate dehydrogenase 1 like ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:23861362 PMID:25741868 PMID:27930701 PMID:28492532 NCBI chrNW_004624788:10,173,629...10,240,200
Ensembl chrNW_004624788:10,173,551...10,240,704 		JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:21615589 PMID:23623143 PMID:23861362 PMID:24033266 PMID:24569893 More... NCBI chrNW_004624781:968,608...1,007,969
Ensembl chrNW_004624781:968,748...1,008,200 		JBrowse link
G Il6 interleukin 6 susceptibility ISO RGD PMID:23906927 RGD:12792237 NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318 		JBrowse link
G Itgb3 integrin subunit beta 3 ISO associated with arteriosclerosis; DNA:polymorphism:exon RGD PMID:20846430 RGD:5128476 NCBI chrNW_004624849:1,895,378...1,952,755
Ensembl chrNW_004624849:1,895,914...1,952,665 		JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Sudden cardiac arrest | ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:18508782 PMID:19716085 PMID:22581653 PMID:25417810 PMID:25741868 More... NCBI chrNW_004624800:5,633,060...5,663,700
Ensembl chrNW_004624800:5,632,726...5,663,771 		JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:25741868 NCBI chrNW_004624767:15,252,961...15,613,373
Ensembl chrNW_004624767:15,252,950...15,613,562 		JBrowse link
G Kng1 kininogen 1 susceptibility ISO DNA:SNPs: : RGD PMID:19716087 RGD:10411885 NCBI chrNW_004624730:70,022,449...70,065,115 JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Family history of sudden cardiac death ClinVar PMID:17711925 PMID:25741868 PMID:28492532 NCBI chrNW_004624885:1,423,563...1,466,657
Ensembl chrNW_004624885:1,447,395...1,467,554 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20435227 NCBI chrNW_004624767:1,406,563...1,420,778
Ensembl chrNW_004624767:1,406,587...1,420,436 		JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:24033266 PMID:28492532 NCBI chrNW_004624770:13,239,572...13,356,041
Ensembl chrNW_004624770:13,239,723...13,355,954 		JBrowse link
G Nebl nebulette ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar NCBI chrNW_004624796:7,133,915...7,498,706
Ensembl chrNW_004624796:7,133,923...7,493,673 		JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:25741868 PMID:27532257 PMID:28492532 PMID:29802319 PMID:31402444 NCBI chrNW_004624778:3,261,446...3,344,204
Ensembl chrNW_004624778:3,261,390...3,342,850 		JBrowse link
G Pln phospholamban ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:12639993 PMID:16235537 PMID:17655857 PMID:21167350 PMID:21332051 More... NCBI chrNW_004624798:11,522,245...11,528,741
Ensembl chrNW_004624798:11,522,269...11,528,775 		JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Sudden cardiac arrest | ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:12459180 PMID:22787013 PMID:23861362 PMID:24033266 PMID:25650408 More... NCBI chrNW_004624775:12,954,653...13,650,449
Ensembl chrNW_004624775:12,956,042...13,419,381 		JBrowse link
G Scn3b sodium voltage-gated channel beta subunit 3 ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar NCBI chrNW_004624880:1,496,571...1,519,728
Ensembl chrNW_004624880:1,496,634...1,516,684 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Sudden cardiac arrest | ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:14985827 PMID:15851227 PMID:16712702 PMID:18378609 PMID:18508782 More... NCBI chrNW_004624731:2,401,358...2,498,212
Ensembl chrNW_004624731:2,401,380...2,498,211 		JBrowse link
G Slc25a4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Family history of sudden cardiac death ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624769:15,989,527...15,993,609
Ensembl chrNW_004624769:15,989,547...15,997,680 		JBrowse link
G Sp4 Sp4 transcription factor ISO RGD PMID:11007485 RGD:1580019 NCBI chrNW_004624739:9,170,131...9,235,615 JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Sudden cardiac arrest ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004624872:1,467,531...1,481,057
Ensembl chrNW_004624872:1,467,440...1,481,044 		JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Sudden cardiac arrest ClinVar PMID:21839045 PMID:25741868 NCBI chrNW_004624832:2,088,455...2,092,774
Ensembl chrNW_004624832:2,088,589...2,092,771 		JBrowse link
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:23233322 PMID:24033266 PMID:24503780 PMID:25741868 PMID:28492532 NCBI chrNW_004624807:9,332,202...9,348,610
Ensembl chrNW_004624807:9,336,904...9,348,396 		JBrowse link
G Trpm4 transient receptor potential cation channel subfamily M member 4 ISO ClinVar Annotator: match by term: Family history of sudden cardiac death | ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:21887725 PMID:23382873 PMID:24019741 PMID:25416190 PMID:25741868 More... NCBI chrNW_004624832:4,902,335...4,937,806
Ensembl chrNW_004624832:4,902,659...4,936,926 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Sudden cardiac arrest | ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:19608031 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004624844:484,593...760,155 JBrowse link
Alcohol-Induced Sudden Cardiac Failure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppa2 inorganic pyrophosphatase 2 ISO ClinVar Annotator: match by term: Sudden cardiac failure, alcohol-induced OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:27523597 PMID:27523598 PMID:28492532 More... NCBI chrNW_004624830:3,310,346...3,381,703
Ensembl chrNW_004624830:3,310,333...3,381,816 		JBrowse link
Sudden Cardiac Failure, Infantile term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppa2 inorganic pyrophosphatase 2 ISO ClinVar Annotator: match by term: Sudden cardiac failure, infantile OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:27523597 PMID:27523598 PMID:28492532 More... NCBI chrNW_004624830:3,310,346...3,381,703
Ensembl chrNW_004624830:3,310,333...3,381,816 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15960
    Pathological Conditions, Signs and Symptoms 10982
      Pathologic Processes 6809
        Death 163
          Sudden Death 82
            Sudden Cardiac Death 35
              Alcohol-Induced Sudden Cardiac Failure 1
              Karoshi Death 0
              Sudden Cardiac Failure, Infantile 1
Path 2
Term Annotations click to browse term
  disease 15960
    disease of anatomical entity 13723
      cardiovascular system disease 4062
        heart disease 2844
          congestive heart failure 486
            cardiac arrest 53
              Sudden Cardiac Death 35
                Alcohol-Induced Sudden Cardiac Failure 1
                Karoshi Death 0
                Sudden Cardiac Failure, Infantile 1
paths to the root