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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:Death
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Accession:DOID:9000543 term browser browse the term
Definition:Irreversible cessation of all bodily functions, manifested by absence of spontaneous breathing and total loss of cardiovascular and cerebral functions.
Synonyms:exact_synonym: Cardiac Death;   Determination of Death;   Near-Death Experience
 narrow_synonym: DEATH IN EARLY ADULTHOOD
 primary_id: MESH:D003643;   RDO:0004928
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Death term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa1 apolipoprotein A1 ISO CTD Direct Evidence: therapeutic CTD PMID:20972769 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G Apob apolipoprotein B ISO associated with Diabetes Mellitus, Insulin-Dependent RGD PMID:19412820 RGD:2313977 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: therapeutic CTD PMID:18597747 NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
JBrowse link
G F12 coagulation factor XII ISO RGD PMID:17388965 RGD:11041782 NCBI chr17:9,736,577...9,744,420
Ensembl chr17:9,736,577...9,744,420
JBrowse link
G Gria2 glutamate ionotropic receptor AMPA type subunit 2 ISO RGD PMID:7502080 RGD:737715 NCBI chr 2:179,584,302...179,704,629
Ensembl chr 2:179,584,308...179,704,629
JBrowse link
G Myl2 myosin light chain 2 ISO ClinVar Annotator: match by term: Death in early adulthood ClinVar PMID:08673105, PMID:9724616, PMID:10948063, PMID:11102452, PMID:12404107, PMID:12668451, PMID:14594949, PMID:16076902, PMID:16751284, PMID:17606808, PMID:21896538, PMID:24033266, PMID:25324513, PMID:25741868, PMID:26497160, PMID:27435932, PMID:27532257, PMID:28492532 NCBI chr12:39,951,863...39,959,065
Ensembl chr12:39,951,987...39,958,239
JBrowse link
G Nppb natriuretic peptide B ISO associated with Hypertension, Pulmonary RGD PMID:17296640 RGD:1642194 NCBI chr 5:164,796,176...164,797,538
Ensembl chr 5:164,796,185...164,797,531
JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Death in early adulthood ClinVar PMID:19808477, PMID:24033266, PMID:24055113, PMID:27435932 NCBI chr 1:89,550,738...89,560,469
Ensembl chr 1:89,550,738...89,560,719
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Death in early adulthood ClinVar PMID:11997281, PMID:14760488, PMID:15840476, PMID:18071069, PMID:19716085, PMID:19841300, PMID:20129283, PMID:20486126, PMID:22378279, PMID:22581653, PMID:23414114, PMID:23631430, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24613995, PMID:25637381, PMID:25650408, PMID:25741868, PMID:26669661, PMID:27153395, PMID:27435932, PMID:27930701, PMID:28412158, PMID:28492532, PMID:28798025, PMID:29728395, PMID:29874177, PMID:30079003, PMID:31262209 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
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
Asphyxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hif1a hypoxia inducible factor 1 subunit alpha IEP mRNA, protein:increased expression:myocardium, lung (rat) RGD PMID:17285858 RGD:9068458 NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
JBrowse link
G Ift80 intraflagellar transport 80 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17468754 NCBI chr 2:165,506,878...165,600,748
Ensembl chr 2:165,505,810...165,600,748
JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:18620825 RGD:4890002 NCBI chr 5:114,011,184...114,014,277
Ensembl chr 5:114,011,189...114,014,277
JBrowse link
G Sox4 SRY-box transcription factor 4 IDA RGD PMID:12011571 RGD:1581119 NCBI chr17:37,615,022...37,619,728 JBrowse link
asphyxia neonatorum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963755 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit IEP mRNA:increased expression:brain RGD PMID:9763211 RGD:2302855 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit IEP mRNA:decreased expression:brain RGD PMID:9763211 RGD:2302855 NCBI chr18:25,037,668...25,068,380
Ensembl chr18:25,037,625...25,068,389
JBrowse link
G Gstm1 glutathione S-transferase mu 1 severity ISO DNA:deletion, haplotype:: (human) RGD PMID:21058530 RGD:12792218 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Htra2 HtrA serine peptidase 2 treatment IEP protein:increased expression:kidney: RGD PMID:20704803 RGD:10402931 NCBI chr 4:113,883,671...113,886,833
Ensembl chr 4:113,883,670...113,886,994
JBrowse link
G Map2 microtubule-associated protein 2 IEP RGD PMID:21858873 RGD:6483085 NCBI chr 9:73,204,753...73,462,965
Ensembl chr 9:73,319,710...73,462,972
JBrowse link
G Pdia3 protein disulfide isomerase family A, member 3 IEP protein:increased expression:hippocampus: RGD PMID:15453273 RGD:9999183 NCBI chr 3:113,376,983...113,400,707
Ensembl chr 3:113,376,983...113,400,707
JBrowse link
G Psen1 presenilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963755 NCBI chr 6:107,169,514...107,221,000
Ensembl chr 6:107,169,528...107,216,798
JBrowse link
G Psen2 presenilin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963755 NCBI chr13:98,513,600...98,539,347
Ensembl chr13:98,513,570...98,530,724
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963755 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G S100b S100 calcium binding protein B ISO protein:increased expression:urine RGD PMID:14707571 RGD:5508819 NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856
JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963755 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963755 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Xrcc1 X-ray repair cross complementing 1 IEP mRNA:increased expression:brain RGD PMID:9763211 RGD:2302855 NCBI chr 1:81,412,635...81,441,680
Ensembl chr 1:81,413,353...81,441,678
JBrowse link
Brain Death term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmox1 heme oxygenase 1 treatment IEP
IMP
mRNA, protein:increased expression:kidney RGD PMID:23356498, PMID:20819234 RGD:10755728, RGD:10766439 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Icam1 intercellular adhesion molecule 1 IEP mRNA:increased expression:lung (rat) RGD PMID:20810760 RGD:4145365 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Inhbb inhibin subunit beta B IEP mRNA:increased expression:kidney (rat) RGD PMID:15808645 RGD:9743920 NCBI chr13:35,436,532...35,442,222
Ensembl chr13:35,436,532...35,442,222
JBrowse link
G Map2k4 mitogen activated protein kinase kinase 4 IDA RGD PMID:23157661 RGD:7495829 NCBI chr10:52,196,121...52,301,887
Ensembl chr10:52,196,124...52,290,657
JBrowse link
G Map2k6 mitogen-activated protein kinase kinase 6 IDA RGD PMID:23157661 RGD:7495829 NCBI chr10:98,707,160...98,823,054
Ensembl chr10:98,706,960...98,823,287
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
Embryo Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cxcl12 C-X-C motif chemokine ligand 12 ISO associated with Diabetes Mellitus, Insulin-Dependent RGD PMID:18384776 RGD:2306554 NCBI chr 4:149,261,044...149,273,891
Ensembl chr 4:149,261,044...149,273,891
JBrowse link
G Gpx4 glutathione peroxidase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12566075 NCBI chr 7:12,516,357...12,519,154
Ensembl chr 7:12,516,352...12,519,154
JBrowse link
G Grk2 G protein-coupled receptor kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17008600 NCBI chr 1:219,536,220...219,544,329
Ensembl chr 1:219,536,220...219,544,328
JBrowse link
G Igf2 insulin-like growth factor 2 IDA DNA:methylation: : RGD PMID:18778817 RGD:5509951 NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
JBrowse link
G Il18 interleukin 18 IEP RGD PMID:21920610 RGD:8655947 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Lcmt1 leucine carboxyl methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17724024 NCBI chr 1:193,335,629...193,391,620
Ensembl chr 1:193,335,645...193,391,638
JBrowse link
G Lif LIF, interleukin 6 family cytokine ISO CTD Direct Evidence: marker/mechanism CTD PMID:23409146 NCBI chr14:84,482,652...84,500,574
Ensembl chr14:84,482,674...84,500,642
JBrowse link
G Nlrp5 NLR family, pyrin domain containing 5 ISO ClinVar Annotator: match by term: Preimplantation embryonic lethality ClinVar NCBI chr 1:71,452,184...71,490,915
Ensembl chr 1:71,453,798...71,486,790
JBrowse link
G Parg poly (ADP-ribose) glycohydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15591342 NCBI chr16:8,350,168...8,457,999
Ensembl chr16:8,350,326...8,457,996
JBrowse link
G Slc31a1 solute carrier family 31 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11391004 NCBI chr 5:78,222,504...78,249,358
Ensembl chr 5:78,222,504...78,249,358
JBrowse link
G Ube2n ubiquitin-conjugating enzyme E2N ISO CTD Direct Evidence: marker/mechanism CTD PMID:16738225 NCBI chr 7:36,610,147...36,640,190
Ensembl chr 7:36,610,147...36,640,189
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
Fetal Death term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:11085286 RGD:11038921 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Cdk8 cyclin-dependent kinase 8 ISO ClinVar Annotator: match by term: Fetal death ClinVar PMID:25741868 NCBI chr12:10,496,273...10,561,335 JBrowse link
G F5 coagulation factor V no_association ISO RGD PMID:14706682 RGD:1580130 NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
JBrowse link
G Grhl3 grainyhead-like transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:6635991 NCBI chr 5:153,893,039...153,925,045
Ensembl chr 5:153,893,039...153,924,896
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO RGD PMID:20393889 RGD:12910472 NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
JBrowse link
G Lpar1 lysophosphatidic acid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11087877 NCBI chr 5:75,557,038...75,678,067
Ensembl chr 5:75,557,042...75,676,584
JBrowse link
G Nfe2l2 nuclear factor, erythroid 2-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29255069 NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
JBrowse link
G Oxt oxytocin/neurophysin I prepropeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:5067144 NCBI chr 3:123,106,694...123,107,534
Ensembl chr 3:123,106,694...123,107,534
JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11023856 NCBI chr14:35,527,926...35,581,130
Ensembl chr14:35,527,927...35,581,031
JBrowse link
G Rdh10 retinol dehydrogenase 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793605 NCBI chr 5:2,605,265...2,631,905
Ensembl chr 5:2,603,505...2,632,030
JBrowse link
G Tfpi tissue factor pathway inhibitor ISO associated with Hemorrhage; RGD PMID:9242522 RGD:11060259 NCBI chr 3:71,852,738...71,902,127
Ensembl chr 3:71,852,744...71,893,618
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO associated with Endotoxemia; human protein in rat model RGD PMID:21187445 RGD:5131261 NCBI chr 5:163,136,390...163,167,299
Ensembl chr 5:163,136,390...163,167,299
JBrowse link
Fetal Resorption term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoh apolipoprotein H ISO RGD PMID:24642748 RGD:10054118 NCBI chr10:96,640,013...96,653,939
Ensembl chr10:96,639,924...96,653,938
JBrowse link
G Prl prolactin ISO CTD Direct Evidence: therapeutic CTD PMID:3816235 NCBI chr17:39,814,236...39,824,299
Ensembl chr17:39,814,244...39,824,299
JBrowse link
Infant Death term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Death in infancy ClinVar PMID:15075330, PMID:15178757, PMID:16253912, PMID:18782775, PMID:22581653, PMID:23631430, PMID:23861362, PMID:24025405, PMID:25351510, PMID:25741868, PMID:27435932, PMID:28492532, PMID:30615648 NCBI chr 2:231,224,643...231,522,655
Ensembl chr 2:231,226,949...231,648,122
JBrowse link
G Gpd1l glycerol-3-phosphate dehydrogenase 1-like ISO ClinVar Annotator: match by term: Death in infancy ClinVar PMID:11839626, PMID:17967977, PMID:19666841, PMID:19745168, PMID:20724705, PMID:22995991, PMID:23414114, PMID:24033266, PMID:26743238, PMID:27435932, PMID:28008009, PMID:28492532, PMID:28798025, PMID:30311386 NCBI chr 8:122,957,570...122,987,236
Ensembl chr 8:122,954,948...122,987,191
JBrowse link
G Myl2 myosin light chain 2 ISO ClinVar Annotator: match by term: Death in infancy ClinVar PMID:8673105, PMID:11102452, PMID:11748309, PMID:12668451, PMID:14594949, PMID:15483641, PMID:16837010, PMID:18929571, PMID:19150977, PMID:20855589, PMID:21415409, PMID:22958901, PMID:23299917, PMID:23343568, PMID:24033266, PMID:24111713, PMID:25637381, PMID:25741868, PMID:26116789, PMID:26284228, PMID:27435932, PMID:28467684, PMID:28492532 NCBI chr12:39,951,863...39,959,065
Ensembl chr12:39,951,987...39,958,239
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Death in infancy ClinVar PMID:19926015, PMID:20157052, PMID:22374134, PMID:22515980, PMID:22677073, PMID:23861362, PMID:24025405, PMID:24033266, PMID:25741868, PMID:27435932, PMID:27538377, PMID:28125075, PMID:28404607, PMID:28492532, PMID:28567303, PMID:29396286, PMID:30403697 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: Death in infancy ClinVar PMID:23257389, PMID:23861362, PMID:24033266, PMID:25741868, PMID:27435932, PMID:27711072, PMID:28492532, PMID:30662450 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: Death in infancy ClinVar PMID:11901046, PMID:11997281, PMID:14753626, PMID:14760488, PMID:15840476, PMID:18071069, PMID:18708744, PMID:19716085, PMID:19841300, PMID:20129283, PMID:20486126, PMID:21167176, PMID:22378279, PMID:22426227, PMID:22581653, PMID:22840528, PMID:22984773, PMID:23414114, PMID:23631430, PMID:23805106, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24613995, PMID:24631775, PMID:24721456, PMID:24892747, PMID:25637381, PMID:25650408, PMID:25741868, PMID:25904541, PMID:26159999, PMID:26332594, PMID:26467025, PMID:26538325, PMID:26669661, PMID:26746457, PMID:27153395, PMID:27435932, PMID:27930701, PMID:28412158, PMID:28492532, PMID:28794082, PMID:28798025, PMID:29728395, PMID:29874177, PMID:30079003, PMID:30153324, PMID:31262209 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
G Smn1 survival of motor neuron 1, telomeric ISO CTD Direct Evidence: marker/mechanism CTD PMID:27111068 NCBI chr 2:30,360,101...30,371,147
Ensembl chr 2:30,360,100...30,371,147
JBrowse link
G Trpm7 transient receptor potential cation channel, subfamily M, member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30770447 NCBI chr 3:119,258,189...119,347,084
Ensembl chr 3:119,259,467...119,330,345
JBrowse link
Perinatal Asphyxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gstt1 glutathione S-transferase theta 1 severity ISO DNA:deletion:: (human) RGD PMID:21058530 RGD:12792218 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
Perinatal Death term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam20c FAM20C, golgi associated secretory pathway kinase ISO ClinVar Annotator: match by term: Neonatal death ClinVar PMID:25558065 NCBI chr12:17,913,771...17,972,733
Ensembl chr12:17,913,767...17,972,737
JBrowse link
G Fancd2 FA complementation group D2 ISO RGD PMID:12893777 RGD:11344906 NCBI chr 4:145,489,869...145,551,479
Ensembl chr 4:145,489,869...145,551,479
JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Neonatal death ClinVar PMID:25558065 NCBI chr18:53,068,495...53,272,254
Ensembl chr18:53,068,495...53,181,503
JBrowse link
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28242822 NCBI chr15:344,204...1,048,849
Ensembl chr15:344,360...1,047,956
JBrowse link
G Lamc3 laminin subunit gamma 3 ISO ClinVar Annotator: match by term: Neonatal death ClinVar PMID:25741868 NCBI chr 3:9,265,407...9,327,107
Ensembl chr 3:9,267,122...9,326,993
JBrowse link
G Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO ClinVar Annotator: match by term: Neonatal death ClinVar PMID:22958903, PMID:25558065 NCBI chr 8:130,615,482...130,631,144
Ensembl chr 8:130,615,711...130,617,833
JBrowse link
G Spdl1 spindle apparatus coiled-coil protein 1 ISO ClinVar Annotator: match by term: Neonatal death ClinVar PMID:25558065 NCBI chr10:19,628,070...19,652,914
Ensembl chr10:19,628,258...19,652,898
JBrowse link
G Wdr81 WD repeat domain 81 ISO ClinVar Annotator: match by term: Neonatal death ClinVar PMID:25558065, PMID:25741868, PMID:28556411 NCBI chr10:62,273,817...62,287,213
Ensembl chr10:62,273,800...62,287,189
JBrowse link
Preimplantation Embryonic Lethality 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tle6 TLE family member 6, subcortical maternal complex member ISO ClinVar Annotator: match by term: Preimplantation embryonic lethality 1 ClinVar
OMIM
PMID:25741868, PMID:26537248 NCBI chr 7:10,964,136...10,988,127
Ensembl chr 7:10,962,330...10,988,137
JBrowse link
Preimplantation Embryonic Lethality 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Padi6 peptidyl arginine deiminase 6 ISO ClinVar Annotator: match by term: PREIMPLANTATION EMBRYONIC LETHALITY 2 ClinVar
OMIM
PMID:27545678 NCBI chr 5:159,241,276...159,256,749
Ensembl chr 5:159,241,413...159,256,699
JBrowse link
Stillbirth term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdk8 cyclin-dependent kinase 8 ISO ClinVar Annotator: match by term: Stillbirth ClinVar PMID:25741868 NCBI chr12:10,496,273...10,561,335 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 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
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 16108
    Pathological Conditions, Signs and Symptoms 8726
      Pathologic Processes 6130
        Death 133
          Asphyxia + 19
          Body Remains 0
          Brain Death 5
          Cadaver + 0
          Drowning + 0
          Embryo Loss + 13
          Fetal Death + 14
          Infant Death + 21
          Parental Death + 0
          Perinatal Death 8
          Sudden Death + 67
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.