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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


show annotations for term's descendants           Sort by:
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 chr 9:80,115,164...80,164,636
Ensembl chr 9:80,115,112...80,164,627 		JBrowse link
G Adra2b adrenoceptor alpha 2B ISO RGD PMID:12535806 RGD:1559314 NCBI chr 3:114,585,174...114,589,220
Ensembl chr 3:114,585,169...114,589,355 		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 chr 4:30,056,738...30,192,716
Ensembl chr 4:30,056,738...30,192,606 		JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Sudden cardiac arrest | ClinVar Annotator: match by term: Sudden cardiac death ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:12571597 RGD:734572 NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923 		JBrowse link
G Apob apolipoprotein B ISO RGD PMID:17045270 RGD:1601197 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497 		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 chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648 		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 chr20:32,568,417...32,739,449
Ensembl chr20:32,572,741...32,739,516 		JBrowse link
G Dpp6 dipeptidyl peptidase like 6 ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar NCBI chr 4:7,589,386...8,508,666
Ensembl chr 4:7,591,009...8,508,532 		JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:25741868 NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156 		JBrowse link
G Dsp desmoplakin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20435227 NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
G Gja1 gap junction protein, alpha 1 treatment ISO RGD PMID:22093512 RGD:12910124 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582 		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 chr 8:114,591,103...114,620,771
Ensembl chr 8:114,588,487...114,620,723 		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 chr 8:59,222,206...59,259,626
Ensembl chr 8:59,221,653...59,259,639 		JBrowse link
G Il6 interleukin 6 susceptibility ISO RGD PMID:23906927 RGD:12792237 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Itgb3 integrin subunit beta 3 ISO associated with arteriosclerosis; DNA:polymorphism:exon RGD PMID:20846430 RGD:5128476 NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679 		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 chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008 		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 chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669 		JBrowse link
G Kng1 kininogen 1 susceptibility ISO DNA:SNPs: : RGD PMID:19716087 RGD:10411885 NCBI chr11:77,812,757...77,835,555
Ensembl chr11:77,812,752...77,835,555 		JBrowse link
G Kng2 kininogen 2 susceptibility ISO DNA:SNPs: : RGD PMID:19716087 RGD:10411885 NCBI chr11:77,913,876...77,936,247
Ensembl chr11:77,909,612...78,002,971 		JBrowse link
G Lmna lamin A/C ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Family history of sudden cardiac death		 CTD
ClinVar		 PMID:15996213 PMID:17711925 PMID:25741868 PMID:28492532 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20435227 NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405 		JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:15998695 PMID:20215591 PMID:22194935 PMID:22361390 PMID:23299917 More... NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:25741868 NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217 		JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:24033266 PMID:28492532 NCBI chr 9:110,916,156...111,039,344
Ensembl chr 9:110,915,943...111,039,344 		JBrowse link
G Nebl nebulette ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar NCBI chr17:80,113,891...80,466,331
Ensembl chr17:80,118,543...80,466,210 		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 chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730 		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 chr20:32,629,537...32,639,559 JBrowse link
G Ryr2 ryanodine receptor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sudden cardiac arrest | ClinVar Annotator: match by term: Sudden cardiac death		 CTD
ClinVar		 PMID:12459180 PMID:22787013 PMID:23861362 PMID:24033266 PMID:25650408 More... NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142 		JBrowse link
G Scn3b sodium voltage-gated channel beta subunit 3 ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar NCBI chr 8:40,630,372...40,652,869
Ensembl chr 8:40,630,455...40,652,868 		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 chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769 		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 chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733 		JBrowse link
G Sp4 Sp4 transcription factor ISO RGD PMID:11007485 RGD:1580019 NCBI chr 6:139,187,458...139,252,741
Ensembl chr 6:139,192,147...139,252,126 		JBrowse link
G Tmem43 transmembrane protein 43 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sudden cardiac arrest		 CTD
ClinVar		 PMID:20435227 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825 		JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Sudden cardiac arrest ClinVar PMID:21839045 PMID:25741868 NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580 		JBrowse link
G Tnnt2 troponin T2, cardiac type ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sudden cardiac death		 CTD
ClinVar		 PMID:17556660 PMID:23233322 PMID:24033266 PMID:24503780 PMID:25741868 More... NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388 		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 chr 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532 		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 chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sudden cardiac failure, alcohol-induced		 OMIM
CTD
ClinVar		 PMID:24033266 PMID:25741868 PMID:27523597 PMID:27523598 PMID:28492532 More... NCBI chr 2:221,800,791...221,878,079
Ensembl chr 2:221,800,842...221,878,081 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sudden cardiac failure, infantile		 OMIM
CTD
ClinVar		 PMID:24033266 PMID:25741868 PMID:27523597 PMID:27523598 PMID:28492532 More... NCBI chr 2:221,800,791...221,878,079
Ensembl chr 2:221,800,842...221,878,081 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13332
      Pathologic Processes 7983
        Death 174
          Sudden Death 87
            Sudden Cardiac Death 38
              Alcohol-Induced Sudden Cardiac Failure 1
              Karoshi Death 0
              Sudden Cardiac Failure, Infantile 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      cardiovascular system disease 5404
        heart disease 3320
          congestive heart failure 578
            cardiac arrest 59
              Sudden Cardiac Death 38
                Alcohol-Induced Sudden Cardiac Failure 1
                Karoshi Death 0
                Sudden Cardiac Failure, Infantile 1
paths to the root