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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 Death
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Accession:DOID:9007820 term browser browse the term
Definition:The abrupt cessation of all vital bodily functions, manifested by the permanent loss of total cerebral, respiratory, and cardiovascular functions.
Synonyms:narrow_synonym: Sudden unexplained death
 primary_id: MESH:D003645
 alt_id: RDO:0001697
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Sudden Death term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO CTD Direct Evidence: marker/mechanism CTD PMID:15331425 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:17502491 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Anxa5 annexin A5 no_association ISO DNA:polymorphism: :-1C>T (human) RGD PMID:16025836 RGD:1578384 NCBI chr 2:123,162,477...123,194,730
Ensembl chr 2:123,162,461...123,193,130
JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Sudden unexplained death ClinVar PMID:25741868, PMID:28492532 NCBI chr 4:150,635,808...151,270,790
Ensembl chr 4:150,641,066...150,829,913
JBrowse link
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Sudden unexplained death ClinVar PMID:20817017, PMID:24033266, PMID:25637381, PMID:25741868, PMID:28492532 NCBI chr17:81,673,862...82,019,219
Ensembl chr17:81,798,756...82,017,682
JBrowse link
G Casq2 calsequestrin 2 ISO ClinVar Annotator: match by term: Sudden unexplained death ClinVar PMID:12034872, PMID:18543230, PMID:21063088, PMID:21454795, PMID:22421959, PMID:24025405, PMID:24033266, PMID:25651173, PMID:25741868, PMID:26671417, PMID:28492532 NCBI chr 2:204,512,361...204,568,643
Ensembl chr 2:204,512,302...204,568,656
JBrowse link
G Csrp3 cysteine and glycine rich protein 3 ISO ClinVar Annotator: match by term: Sudden unexplained death ClinVar PMID:9039266, PMID:12507422, PMID:14567970, PMID:15781201, PMID:16352453, PMID:17084280, PMID:18505755, PMID:20044516, PMID:20474083, PMID:23396983, PMID:23861362, PMID:24033266, PMID:25741868, PMID:26656175, PMID:28492532 NCBI chr 1:104,147,205...104,166,389
Ensembl chr 1:104,147,206...104,166,367
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Sudden unexplained death
ClinVar Annotator: match by term: Sudden death
ClinVar PMID:20031617, PMID:20152563, PMID:23861362, PMID:24033266, PMID:25741868, PMID:27332903, PMID:28492532, PMID:28611029 NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
JBrowse link
G Gla galactosidase, alpha ISO ClinVar Annotator: match by term: Sudden unexplained death ClinVar PMID:7504405, PMID:9452111, PMID:11668641, PMID:11914245, PMID:14635108, PMID:14680977, PMID:15806320, PMID:16232095, PMID:16754800, PMID:18057066, PMID:18154965, PMID:18297328, PMID:19373884, PMID:20110537, PMID:20122163, PMID:20360539, PMID:20464614, PMID:21229318, PMID:21517827, PMID:22226368, PMID:23219219, PMID:23393592, PMID:23430502, PMID:24033266, PMID:24829596, PMID:25078086, PMID:25468652, PMID:25637381, PMID:25741868, PMID:26415523, PMID:27832731, PMID:27979989, PMID:28492532 NCBI chr  X:105,405,915...105,417,331
Ensembl chr  X:105,406,792...105,417,323
JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Sudden unexplained death ClinVar PMID:9328483, PMID:9354783, PMID:9354802, PMID:9445165, PMID:10400998, PMID:10428953, PMID:10973849, PMID:11320260, PMID:11874988, PMID:12566567, PMID:15840476, PMID:16818210, PMID:19008479, PMID:19340287, PMID:19521339, PMID:19716085, PMID:22166941, PMID:22581653, PMID:23124029, PMID:23510998, PMID:23631430, PMID:24033266, PMID:24400172, PMID:24561134, PMID:24606995, PMID:25637381, PMID:25741868, PMID:26187847, PMID:28176637, PMID:28492532 NCBI chr11:32,498,260...32,511,202
Ensembl chr11:32,498,261...32,508,420
JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Sudden unexplained death ClinVar PMID:11468227, PMID:12775564, PMID:14661677, PMID:14975928, PMID:15522280, PMID:16487223, PMID:17161064, PMID:17210839, PMID:17275752, PMID:19019189, PMID:19673885, PMID:19841300, PMID:20167303, PMID:22581653, PMID:23303164, PMID:23861362, PMID:24596401, PMID:25741868, PMID:26467025, PMID:26746457, PMID:27153395, PMID:28472724, PMID:28492532, PMID:29752375, PMID:29759541 NCBI chr 4:7,355,066...7,387,282
Ensembl chr 4:7,355,574...7,387,253
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Sudden unexplained death ClinVar PMID:8619549, PMID:9106535, PMID:10814726, PMID:12628721, PMID:12673789, PMID:12920062, PMID:15053843, PMID:16386954, PMID:17136397, PMID:17377071, PMID:18035086, PMID:18414213, PMID:18564364, PMID:18646565, PMID:19524666, PMID:21632249, PMID:21840938, PMID:23183350, PMID:24503780, PMID:24990833, PMID:25741868, PMID:26443318, PMID:27220833, PMID:28492532, PMID:30055862 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Map2k5 mitogen activated protein kinase kinase 5 ISO RGD PMID:11387209 RGD:1580866 NCBI chr 8:68,055,976...68,282,656
Ensembl chr 8:68,055,972...68,282,590
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Sudden unexplained death ClinVar NCBI chr 3:79,940,509...79,958,731
Ensembl chr 3:79,940,561...79,958,730
JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Sudden unexplained death ClinVar PMID:15358028, PMID:15856146, PMID:16335287, PMID:19808356, PMID:19913502, PMID:20800588, PMID:22857948, PMID:23074333, PMID:23283745, PMID:23396983, PMID:23782526, PMID:23861362, PMID:24047955, PMID:24704860, PMID:25351510, PMID:25741868, PMID:26688388, PMID:27247418, PMID:27532257, PMID:28408708, PMID:28492532, PMID:28687478, PMID:29300372, PMID:30165862, PMID:31199839 NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
JBrowse link
G Mylk2 myosin light chain kinase 2 ISO ClinVar Annotator: match by term: Sudden unexplained death ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:148,386,185...148,397,851
Ensembl chr 3:148,386,189...148,399,501
JBrowse link
G Mypn myopalladin ISO ClinVar Annotator: match by term: Sudden unexplained death ClinVar PMID:25741868, PMID:28492532 NCBI chr20:26,988,820...27,074,106
Ensembl chr20:26,988,774...27,074,138
JBrowse link
G Nebl nebulette ISO ClinVar Annotator: match by term: Sudden unexplained death ClinVar PMID:25741868, PMID:28492532 NCBI chr17:84,141,014...84,247,038
Ensembl chr17:84,140,489...84,488,601
JBrowse link
G Npr1 natriuretic peptide receptor 1 ISO associated with Hypertension RGD PMID:9405681 RGD:737701 NCBI chr 2:189,840,403...189,857,032
Ensembl chr 2:189,840,403...189,856,090
JBrowse link
G Nrap nebulin-related anchoring protein ISO ClinVar Annotator: match by term: Sudden unexplained death ClinVar NCBI chr 1:277,104,519...277,181,397
Ensembl chr 1:277,104,514...277,181,414
JBrowse link
G Nsun6 NOP2/Sun RNA methyltransferase 6 ISO ClinVar Annotator: match by term: Sudden unexplained death ClinVar PMID:25741868 NCBI chr17:82,020,316...82,060,533
Ensembl chr17:82,022,490...82,060,123
JBrowse link
G Otc ornithine carbamoyltransferase ISO RGD PMID:17262046 RGD:1601074 NCBI chr  X:13,524,804...13,601,074
Ensembl chr  X:13,524,607...13,601,069
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Sudden unexplained death ClinVar PMID:20400443, PMID:25741868 NCBI chr11:88,912,163...88,972,213 JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Sudden death
ClinVar Annotator: match by term: Sudden unexplained death
ClinVar PMID:23861362, PMID:24033266, PMID:25650408, PMID:25741868, PMID:26656175, PMID:27054166, PMID:27930701, PMID:28492532 NCBI chr17:65,533,998...65,955,606
Ensembl chr17:65,535,403...65,955,606
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Sudden unexplained death ClinVar PMID:17210839, PMID:17210841, PMID:20129283, PMID:22581653, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Sudden unexplained death ClinVar PMID:25741868 NCBI chr 1:101,293,300...101,323,484
Ensembl chr 1:101,293,409...101,323,960
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 ClinVar
OMIM
PMID:25741868, PMID:27523597, PMID:27523598, PMID:28492532, PMID:30384889 NCBI chr 2:238,528,978...238,606,903
Ensembl chr 2:238,529,074...238,606,905
JBrowse link
cold-induced sweating syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcf1 cardiotrophin-like cytokine factor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:219,468,866...219,472,445
Ensembl chr 1:219,468,675...219,472,654
JBrowse link
G Crlf1 cytokine receptor-like factor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:20,675,042...20,686,365
Ensembl chr16:20,675,042...20,686,317
JBrowse link
G Klhl7 kelch-like family member 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:7,532,881...7,582,032
Ensembl chr 4:7,532,889...7,582,207
JBrowse link
cold-induced sweating syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crlf1 cytokine receptor-like factor 1 ISO ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 OMIM
ClinVar
PMID:8723066, PMID:17436251, PMID:17436252, PMID:19012339, PMID:25326637, PMID:26752647 NCBI chr16:20,675,042...20,686,365
Ensembl chr16:20,675,042...20,686,317
JBrowse link
G Klhl7 kelch-like family member 7 ISO ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 ClinVar PMID:27392078 NCBI chr 4:7,532,881...7,582,032
Ensembl chr 4:7,532,889...7,582,207
JBrowse link
cold-induced sweating syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcf1 cardiotrophin-like cytokine factor 1 ISO ClinVar Annotator: match by term: Cold-induced sweating syndrome 2 OMIM
ClinVar
PMID:16782820, PMID:20400119, PMID:25741868 NCBI chr 1:219,468,866...219,472,445
Ensembl chr 1:219,468,675...219,472,654
JBrowse link
cold-induced sweating syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klhl7 kelch-like family member 7 ISO ClinVar Annotator: match by term: Cold-induced sweating syndrome 3
ClinVar Annotator: match by term: PERCHING syndrome
ClinVar Annotator: match by term: CRISPONI/COLD-INDUCED SWEATING SYNDROME 3
ClinVar
OMIM
PMID:18414213, PMID:25741868, PMID:27392078, PMID:29074562, PMID:30300710 NCBI chr 4:7,532,881...7,582,032
Ensembl chr 4:7,532,889...7,582,207
JBrowse link
Familial Sudden Death term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ryr2 ryanodine receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31913406 NCBI chr17:65,533,998...65,955,606
Ensembl chr17:65,535,403...65,955,606
JBrowse link
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 9:84,569,601...84,593,565
Ensembl chr 9:84,569,597...84,593,565
JBrowse link
G Adra2b adrenoceptor alpha 2B ISO RGD PMID:12535806 RGD:1559314 NCBI chr 3:119,805,941...119,809,987
Ensembl chr 3:119,805,941...119,809,987
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 4:27,195,346...27,331,582
Ensembl chr 4:27,195,346...27,331,582
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, PMID:12571597 RGD:734572 NCBI chr 2:231,224,643...231,522,655
Ensembl chr 2:231,226,949...231,648,122
JBrowse link
G Apob apolipoprotein B ISO RGD PMID:17045270 RGD:1601197 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar NCBI chr 4:150,635,808...151,270,790
Ensembl chr 4:150,641,066...150,829,913
JBrowse link
G Cacna1d calcium voltage-gated channel subunit alpha1 D ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:30311386 NCBI chr16:6,110,294...6,405,022
Ensembl chr16:6,112,150...6,405,117
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, PMID:22137083, PMID:23861362, PMID:24033266, PMID:25611685, PMID:25741868, PMID:26535225, PMID:27532257, PMID:28492532, PMID:28600387 NCBI chr20:34,574,043...34,743,142
Ensembl chr20:34,575,950...34,684,418
JBrowse link
G Dpp6 dipeptidyl peptidase like 6 ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar NCBI chr 4:4,021,021...4,943,675
Ensembl chr 4:4,021,008...4,473,307
JBrowse link
G Dsp desmoplakin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sudden cardiac death
CTD
ClinVar
PMID:20435227, PMID:25741868 NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
JBrowse link
G Dtna dystrobrevin, alpha ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:30311386 NCBI chr18:14,544,725...14,671,514
Ensembl chr18:14,471,213...14,657,332
JBrowse link
G Gja1 gap junction protein, alpha 1 treatment ISO RGD PMID:22093512 RGD:12910124 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
G Gpd1l glycerol-3-phosphate dehydrogenase 1-like ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:23861362, PMID:27930701, PMID:28492532 NCBI chr 8:122,957,570...122,987,236
Ensembl chr 8:122,954,948...122,987,191
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, PMID:25145517, PMID:25467552, PMID:25642760, PMID:26467025, PMID:28492532 NCBI chr 8:63,599,907...63,637,327
Ensembl chr 8:63,600,663...63,639,654
JBrowse link
G Il6 interleukin 6 susceptibility ISO RGD PMID:23906927 RGD:12792237 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Itgb3 integrin subunit beta 3 ISO associated with arteriosclerosis; DNA:polymorphism:exon RGD PMID:20846430 RGD:5128476 NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Sudden cardiac death
ClinVar Annotator: match by term: Sudden cardiac arrest
ClinVar PMID:18508782, PMID:19716085, PMID:22581653, PMID:25417810, PMID:25741868, PMID:26704558 NCBI chr 4:7,355,066...7,387,282
Ensembl chr 4:7,355,574...7,387,253
JBrowse link
G Kng2 kininogen 2 susceptibility ISO DNA:SNPs: : RGD PMID:19716087 RGD:10411885 NCBI chr11:81,509,185...81,516,759 JBrowse link
G Lmna lamin A/C ISO CTD Direct Evidence: marker/mechanism CTD PMID:15996213 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Mybpc3 myosin binding protein C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20435227 NCBI chr 3:79,940,509...79,958,731
Ensembl chr 3:79,940,561...79,958,730
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, PMID:23861362, PMID:24033266, PMID:24119082, PMID:25741868, PMID:27194543, PMID:28088328, PMID:28492532 NCBI chr15:33,605,653...33,629,730
Ensembl chr15:33,605,654...33,629,699
JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:25741868 NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:24033266, PMID:28492532 NCBI chr 9:119,353,840...119,469,196
Ensembl chr 9:119,353,840...119,468,715
JBrowse link
G Nebl nebulette ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar NCBI chr17:84,141,014...84,247,038
Ensembl chr17:84,140,489...84,488,601
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:25741868, PMID:27532257, PMID:28492532, PMID:30311386 NCBI chr11:88,912,163...88,972,213 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, PMID:22137083, PMID:23861362, PMID:24033266, PMID:25611685, PMID:25741868, PMID:26535225, PMID:27532257, PMID:28492532, PMID:28600387 NCBI chr20:34,633,157...34,642,904
Ensembl chr20:34,633,157...34,642,904
JBrowse link
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:30311386 NCBI chr 5:171,662,277...171,711,561
Ensembl chr 5:171,662,277...171,710,316
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Sudden cardiac death
ClinVar Annotator: match by term: Sudden cardiac arrest
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:23861362, PMID:24033266, PMID:25650408, PMID:25741868, PMID:26656175, PMID:27054166, PMID:27930701, PMID:28492532, PMID:31913406 NCBI chr17:65,533,998...65,955,606
Ensembl chr17:65,535,403...65,955,606
JBrowse link
G Scn3b sodium voltage-gated channel beta subunit 3 ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar NCBI chr 8:44,136,413...44,159,011
Ensembl chr 8:44,136,496...44,159,010
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Sudden cardiac death
ClinVar Annotator: match by term: Sudden cardiac arrest
ClinVar PMID:15851227, PMID:16712702, PMID:18378609, PMID:18508782, PMID:19564561, PMID:19841300, PMID:20129283, PMID:22581653, PMID:22984773, PMID:23631430, PMID:23671135, PMID:23861362, PMID:24033266, PMID:24055113, PMID:25741868, PMID:25904541, PMID:28492532, PMID:30254039 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
G Sp4 Sp4 transcription factor ISO RGD PMID:11007485 RGD:1580019 NCBI chr 6:146,135,877...146,201,344
Ensembl chr 6:146,135,877...146,195,819
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 4:123,118,468...123,133,610
Ensembl chr 4:123,118,468...123,133,609
JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Sudden cardiac arrest ClinVar PMID:21839045, PMID:25741868 NCBI chr 1:72,882,806...72,886,490
Ensembl chr 1:72,882,806...72,886,488
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, PMID:28492532 NCBI chr13:52,662,974...52,680,992
Ensembl chr13:52,662,996...52,680,990
JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:24019741, PMID:28492532 NCBI chr 1:101,293,300...101,323,484
Ensembl chr 1:101,293,409...101,323,960
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, PMID:30311386 NCBI chr 3:63,565,160...63,837,815 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 ClinVar
OMIM
PMID:25741868, PMID:27523597, PMID:27523598, PMID:28492532, PMID:30384889 NCBI chr 2:238,528,978...238,606,903
Ensembl chr 2:238,529,074...238,606,905
JBrowse link
sudden infant death syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:22000980 NCBI chr 1:123,897,341...124,039,263
Ensembl chr 1:123,899,657...124,039,196
JBrowse link
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:22000980 NCBI chr 2:189,088,570...189,096,785
Ensembl chr 2:189,088,570...189,096,785
JBrowse link
G Gpd1l glycerol-3-phosphate dehydrogenase 1-like ISO ClinVar Annotator: match by term: Sudden infant death syndrome ClinVar PMID:15140536, PMID:17967976, PMID:19606473, PMID:19815826, PMID:22995991, PMID:23465283, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24715918, PMID:25741868, PMID:25998140, PMID:28492532, PMID:28837624 NCBI chr 8:122,957,570...122,987,236
Ensembl chr 8:122,954,948...122,987,191
JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Sudden infant death syndrome
ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME
ClinVar PMID:15913580, PMID:17210839, PMID:18222468, PMID:18596570, PMID:18675227, PMID:19841300, PMID:20674198, PMID:21215473, PMID:22581653, PMID:22995991, PMID:23304551, PMID:24223155, PMID:25348405, PMID:25741868, PMID:26129877, PMID:26332594, PMID:27026747, PMID:27930701, PMID:28492532, PMID:29752375 NCBI chr 4:7,355,066...7,387,282
Ensembl chr 4:7,355,574...7,387,253
JBrowse link
G Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 ISO ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME ClinVar PMID:28492532 NCBI chr 4:176,783,287...176,789,143
Ensembl chr 4:176,782,498...176,789,304
JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Sudden infant death syndrome
ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME
ClinVar PMID:15913580, PMID:17210839, PMID:17222736, PMID:17470695, PMID:17999538, PMID:18222468, PMID:18596570, PMID:18611041, PMID:19490272, PMID:19716085, PMID:19815527, PMID:21185501, PMID:21215473, PMID:21778721, PMID:22581653, PMID:22677073, PMID:23304551, PMID:23465283, PMID:24033266, PMID:24920132, PMID:25637381, PMID:25741868, PMID:28492532, PMID:30302399 NCBI chr 1:216,293,087...216,630,339
Ensembl chr 1:216,293,087...216,630,339
JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: Sudden infant death syndrome ClinVar PMID:9299504, PMID:9806551, PMID:10519336, PMID:10521313, PMID:12160969, PMID:13298683, PMID:15972314 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22155597 NCBI chr 1:89,550,738...89,560,469
Ensembl chr 1:89,550,738...89,560,719
JBrowse link
G Scn4b sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Sudden infant death syndrome ClinVar PMID:20226894, PMID:25741868, PMID:28492532 NCBI chr 8:49,441,106...49,456,279
Ensembl chr 8:49,441,106...49,456,279
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 susceptibility ISO ClinVar Annotator: match by OMIM:272120
ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME
ClinVar Annotator: match by term: Sudden Infant Death
ClinVar Annotator: match by term: Sudden infant death syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:11710892, PMID:12193783, PMID:12471205, PMID:14500339, PMID:15161528, PMID:15851227, PMID:15992732, PMID:15996170, PMID:16061744, PMID:16414944, PMID:16453014, PMID:16453024, PMID:16731473, PMID:16922724, PMID:17185997, PMID:17210839, PMID:17210841, PMID:17275750, PMID:17892895, PMID:17967976, PMID:18362431, PMID:18378609, PMID:18452875, PMID:18596570, PMID:19302788, PMID:19305408, PMID:19305409, PMID:19597050, PMID:19716085, PMID:19841300, PMID:19996378, PMID:20038812, PMID:20129283, PMID:20403459, PMID:20470418, PMID:20486126, PMID:21051419, PMID:21126620, PMID:21325150, PMID:21385947, PMID:21498565, PMID:21621375, PMID:22581653, PMID:22677073, PMID:22685113, PMID:22984773, PMID:23091201, PMID:23465283, PMID:23838598, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24144883, PMID:24332150, PMID:24400668, PMID:24606995, PMID:24613995, PMID:24681144, PMID:24951663, PMID:25051102, PMID:25065297, PMID:25637381, PMID:25741868, PMID:25757662, PMID:25923670, PMID:26213684, PMID:26467025, PMID:26743238, PMID:27077130, PMID:27153395, PMID:28492532, PMID:29202755, PMID:29431662, PMID:29540853, PMID:29728395, PMID:30079003, PMID:30311386, PMID:30364184 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
G Slc6a4 solute carrier family 6 member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12599191 NCBI chr10:63,153,656...63,188,377
Ensembl chr10:63,153,651...63,176,463
JBrowse link
G Snta1 syntrophin, alpha 1 susceptibility ISO DNA:missense mutations:cds:multiple RGD PMID:20009079 RGD:6771369 NCBI chr 3:149,874,023...149,905,980
Ensembl chr 3:149,874,030...149,905,944
JBrowse link
G Tspyl1 TSPY-like 1 ISO sudden infant death with dysgenesis of the testes syndrome (SIDDT), OMIM:608800 RGD PMID:15273283 RGD:1599672 NCBI chr20:41,083,317...41,085,876
Ensembl chr20:41,083,317...41,085,875
JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:12563064 RGD:634255 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISS OMIM:272120 MouseDO NCBI chr 4:145,580,869...145,587,835
Ensembl chr 4:145,580,799...145,587,845
JBrowse link
Sudden Infant Death with Dysgenesis of the Testes Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tspyl1 TSPY-like 1 ISO ClinVar Annotator: match by null OMIM
ClinVar
PMID:15273283 NCBI chr20:41,083,317...41,085,876
Ensembl chr20:41,083,317...41,085,875
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Pathological Conditions, Signs and Symptoms 8723
      Pathologic Processes 6127
        Death 133
          Sudden Death 67
            Cardiomyopathy Associated with Myopathy and Sudden Death 0
            Familial Sudden Death 1
            Sudden Cardiac Death + 37
            cold-induced sweating syndrome + 3
            sudden infant death syndrome + 15
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.