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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 A-I ISO CTD Direct Evidence: therapeutic CTD PMID:20972769 NCBI chr 9:46,228,630...46,230,469
Ensembl chr 9:46,228,580...46,230,466
JBrowse link
G Apob apolipoprotein B ISO associated with Diabetes Mellitus, Insulin-Dependent RGD PMID:19412820 RGD:2313977 NCBI chr12:7,977,629...8,016,839
Ensembl chr12:7,977,648...8,016,835
JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: therapeutic CTD PMID:18597747 NCBI chr 3:73,635,805...73,708,436
Ensembl chr 3:73,635,808...73,708,415
JBrowse link
G F12 coagulation factor XII (Hageman factor) ISO RGD PMID:17388965 RGD:11041782 NCBI chr13:55,417,958...55,426,804
Ensembl chr13:55,417,958...55,426,793
JBrowse link
G Gria2 glutamate receptor, ionotropic, AMPA2 (alpha 2) IAGP RGD PMID:7502080 RGD:737715 NCBI chr 3:80,681,450...80,804,227
Ensembl chr 3:80,681,450...80,802,835
JBrowse link
G Myl2 myosin, light polypeptide 2, regulatory, cardiac, slow ISO ClinVar Annotator: match by term: Death in early adulthood ClinVar PMID:08673105 PMID:9724616 PMID:10948063 PMID:11102452 PMID:12404107 More... NCBI chr 5:122,092,724...122,113,473
Ensembl chr 5:122,100,951...122,113,472
JBrowse link
G Nppb natriuretic peptide type B ISO associated with Hypertension, Pulmonary RGD PMID:17296640 RGD:1642194 NCBI chr 4:147,985,786...147,987,205
Ensembl chr 4:147,985,788...147,987,205
JBrowse link
G Scn1b sodium channel, voltage-gated, type I, beta ISO ClinVar Annotator: match by term: Death in early adulthood ClinVar PMID:19808477 PMID:24033266 PMID:24055113 PMID:27435932 NCBI chr 7:31,116,524...31,127,023
Ensembl chr 7:31,116,524...31,127,003
JBrowse link
G Scn5a sodium channel, voltage-gated, type V, alpha ISO ClinVar Annotator: match by term: Death in early adulthood ClinVar PMID:11997281 PMID:14760488 PMID:15840476 PMID:18071069 PMID:19716085 More... NCBI chr 9:119,483,404...119,579,030
Ensembl chr 9:119,483,408...119,579,016
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 pyrophosphatase (inorganic) 2 ISO ClinVar Annotator: match by term: Sudden cardiac failure, alcohol-induced ClinVar
OMIM
PMID:24033266 PMID:25741868 PMID:27523597 PMID:27523598 PMID:28492532 More... NCBI chr 3:133,310,059...133,378,235
Ensembl chr 3:133,310,110...133,378,235
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, alpha subunit ISO mRNA, protein:increased expression:myocardium, lung (rat) RGD PMID:17285858 RGD:9068458 NCBI chr12:73,901,324...73,947,554
Ensembl chr12:73,901,375...73,947,530
JBrowse link
G Ift80 intraflagellar transport 80 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17468754 NCBI chr 3:68,892,499...69,004,680
Ensembl chr 3:68,892,499...69,004,570
JBrowse link
G Jun jun proto-oncogene IEP RGD PMID:18620825 RGD:4890002 NCBI chr 4:95,049,036...95,052,222
Ensembl chr 4:95,049,034...95,052,222
JBrowse link
G Sox4 SRY (sex determining region Y)-box 4 ISO RGD PMID:12011571 RGD:1581119 NCBI chr13:28,948,919...28,953,699
Ensembl chr13:28,948,919...28,953,713
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 2:103,453,904...103,485,153
Ensembl chr 2:103,453,849...103,485,160
JBrowse link
G Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 ISO mRNA:increased expression:brain RGD PMID:9763211 RGD:2302855 NCBI chr 7:19,382,017...19,395,694
Ensembl chr 7:19,382,010...19,395,694
JBrowse link
G Ercc3 excision repair cross-complementing rodent repair deficiency, complementation group 3 ISO mRNA:decreased expression:brain RGD PMID:9763211 RGD:2302855 NCBI chr18:32,240,304...32,270,151
Ensembl chr18:32,240,300...32,270,151
JBrowse link
G Gstm1 glutathione S-transferase, mu 1 severity ISO DNA:deletion, haplotype:: (human) RGD PMID:21058530 RGD:12792218 NCBI chr 3:108,012,250...108,017,973
Ensembl chr 3:108,012,255...108,017,973
JBrowse link
G Htra2 HtrA serine peptidase 2 treatment ISO protein:increased expression:kidney: RGD PMID:20704803 RGD:10402931 NCBI chr 6:83,051,266...83,054,571
Ensembl chr 6:83,051,266...83,055,273
JBrowse link
G Map2 microtubule-associated protein 2 ISO RGD PMID:21858873 RGD:6483085 NCBI chr 1:66,175,202...66,442,583
Ensembl chr 1:66,175,273...66,442,583
JBrowse link
G Pdia3 protein disulfide isomerase associated 3 ISO protein:increased expression:hippocampus: RGD PMID:15453273 RGD:9999183 NCBI chr 2:121,413,902...121,438,687
Ensembl chr 2:121,413,775...121,438,687
JBrowse link
G Psen1 presenilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963755 NCBI chr12:83,688,152...83,735,095
Ensembl chr12:83,688,152...83,735,199
JBrowse link
G Psen2 presenilin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963755 NCBI chr 1:180,227,004...180,263,467
Ensembl chr 1:180,227,004...180,263,438
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963755 NCBI chr 1:150,100,031...150,108,234
Ensembl chr 1:150,100,031...150,108,227
JBrowse link
G S100b S100 protein, beta polypeptide, neural ISO protein:increased expression:urine RGD PMID:14707571 RGD:5508819 NCBI chr10:76,253,836...76,261,319
Ensembl chr10:76,253,853...76,261,159
JBrowse link
G Sod1 superoxide dismutase 1, soluble ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963755 NCBI chr16:90,220,762...90,226,333
Ensembl chr16:90,220,754...90,226,329
JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963755 NCBI chr17:13,007,839...13,018,119
Ensembl chr17:13,006,846...13,040,063
JBrowse link
G Xrcc1 X-ray repair complementing defective repair in Chinese hamster cells 1 ISO mRNA:increased expression:brain RGD PMID:9763211 RGD:2302855 NCBI chr 7:24,546,699...24,573,438
Ensembl chr 7:24,546,289...24,573,440
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 ISO mRNA, protein:increased expression:kidney RGD PMID:23356498 PMID:20819234 RGD:10755728, RGD:10766439 NCBI chr 8:75,093,618...75,100,593
Ensembl chr 8:75,093,621...75,100,589
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO mRNA:increased expression:lung (rat) RGD PMID:20810760 RGD:4145365 NCBI chr 9:21,015,940...21,028,814
Ensembl chr 9:21,015,985...21,028,817
JBrowse link
G Inhbb inhibin beta-B ISO mRNA:increased expression:kidney (rat) RGD PMID:15808645 RGD:9743920 NCBI chr 1:119,415,463...119,422,248
Ensembl chr 1:119,415,465...119,422,248
JBrowse link
G Map2k4 mitogen-activated protein kinase kinase 4 ISO RGD PMID:23157661 RGD:7495829 NCBI chr11:65,688,244...65,788,359
Ensembl chr11:65,688,243...65,788,297
JBrowse link
G Map2k6 mitogen-activated protein kinase kinase 6 ISO RGD PMID:23157661 RGD:7495829 NCBI chr11:110,399,102...110,525,522
Ensembl chr11:110,399,122...110,525,522
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 chr19:4,214,238...4,223,505
Ensembl chr19:4,214,238...4,223,490
JBrowse link
G Crlf1 cytokine receptor-like factor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:70,493,097...70,504,078
Ensembl chr 8:70,493,158...70,504,081
JBrowse link
G Klhl7 kelch-like 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:24,100,565...24,163,369
Ensembl chr 5:24,100,605...24,160,792
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:12509788 PMID:17436251 PMID:17436252 PMID:19012339 More... NCBI chr 8:70,493,097...70,504,078
Ensembl chr 8:70,493,158...70,504,081
JBrowse link
G Klhl7 kelch-like 7 ISO ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 ClinVar PMID:25741868 PMID:27392078 NCBI chr 5:24,100,565...24,163,369
Ensembl chr 5:24,100,605...24,160,792
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 chr19:4,214,238...4,223,505
Ensembl chr19:4,214,238...4,223,490
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 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:28492532 PMID:29074562 More... NCBI chr 5:24,100,565...24,163,369
Ensembl chr 5:24,100,605...24,160,792
JBrowse link
Embryo Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cxcl12 chemokine (C-X-C motif) ligand 12 IMP associated with Diabetes Mellitus, Insulin-Dependent RGD PMID:18384776 RGD:2306554 NCBI chr 6:117,168,535...117,181,368
Ensembl chr 6:117,168,535...117,181,367
JBrowse link
G Gpx4 glutathione peroxidase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12566075 NCBI chr10:80,047,166...80,056,439
Ensembl chr10:80,047,166...80,056,439
JBrowse link
G Grk2 G protein-coupled receptor kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17008600 NCBI chr19:4,285,999...4,306,222
Ensembl chr19:4,286,001...4,306,222
JBrowse link
G Igf2 insulin-like growth factor 2 ISO DNA:methylation: : RGD PMID:18778817 RGD:5509951 NCBI chr 7:142,650,768...142,666,816
Ensembl chr 7:142,650,766...142,666,816
JBrowse link
G Il18 interleukin 18 ISO RGD PMID:21920610 RGD:8655947 NCBI chr 9:50,554,700...50,581,841
Ensembl chr 9:50,554,827...50,581,840
JBrowse link
G Lcmt1 leucine carboxyl methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17724024 NCBI chr 7:123,377,803...123,430,358
Ensembl chr 7:123,369,784...123,430,358
JBrowse link
G Lif leukemia inhibitory factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23409146 NCBI chr11:4,257,568...4,272,514
Ensembl chr11:4,257,557...4,272,514
JBrowse link
G Nlrp5 NLR family, pyrin domain containing 5 ISO ClinVar Annotator: match by term: Preimplantation embryonic lethality ClinVar NCBI chr 7:23,385,889...23,441,923
Ensembl chr 7:23,385,889...23,441,922
JBrowse link
G Parg poly (ADP-ribose) glycohydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15591342 NCBI chr14:32,201,930...32,298,714
Ensembl chr14:32,201,949...32,297,550
JBrowse link
G Slc31a1 solute carrier family 31, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11391004 NCBI chr 4:62,360,583...62,391,769
Ensembl chr 4:62,360,727...62,391,769
JBrowse link
G Ube2n ubiquitin-conjugating enzyme E2N ISO CTD Direct Evidence: marker/mechanism CTD PMID:16738225 NCBI chr10:95,515,162...95,545,658
Ensembl chr10:95,515,145...95,545,657
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, cardiac ISO CTD Direct Evidence: marker/mechanism CTD PMID:31913406 NCBI chr13:11,553,099...12,106,945
Ensembl chr13:11,553,102...12,106,945
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 (peptidyl-dipeptidase A) 1 ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:11085286 RGD:11038921 NCBI chr11:105,967,948...105,989,964
Ensembl chr11:105,967,945...105,989,964
JBrowse link
G Atr ataxia telangiectasia and Rad3 related IGI RGD PMID:15282542 RGD:150340675 NCBI chr 9:95,857,597...95,953,217
Ensembl chr 9:95,857,597...95,951,781
JBrowse link
G Cdk8 cyclin-dependent kinase 8 ISO ClinVar Annotator: match by term: Fetal death ClinVar PMID:25741868 NCBI chr 5:146,230,795...146,302,874
Ensembl chr 5:146,231,230...146,302,874
JBrowse link
G F5 coagulation factor V no_association ISO RGD PMID:14706682 RGD:1580130 NCBI chr 1:164,151,835...164,220,277
Ensembl chr 1:164,151,838...164,220,277
JBrowse link
G Grhl3 grainyhead like transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:6635991 NCBI chr 4:135,541,887...135,573,632
Ensembl chr 4:135,541,888...135,573,630
JBrowse link
G Hspd1 heat shock protein 1 (chaperonin) IMP RGD PMID:20393889 RGD:12910472 NCBI chr 1:55,077,833...55,088,243
Ensembl chr 1:55,077,835...55,088,243
JBrowse link
G Lpar1 lysophosphatidic acid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11087877 NCBI chr 4:58,435,252...58,554,027
Ensembl chr 4:58,435,255...58,553,898
JBrowse link
G Nfe2l2 nuclear factor, erythroid derived 2, like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29255069 NCBI chr 2:75,675,513...75,704,663
Ensembl chr 2:75,675,513...75,704,641
JBrowse link
G Oxt oxytocin ISO CTD Direct Evidence: marker/mechanism CTD PMID:5067144 NCBI chr 2:130,574,519...130,577,054
Ensembl chr 2:130,576,173...130,577,054
JBrowse link
G Pdgfra platelet derived growth factor receptor, alpha polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:11023856 NCBI chr 5:75,151,322...75,198,206
Ensembl chr 5:75,152,292...75,198,215
JBrowse link
G Rdh10 retinol dehydrogenase 10 (all-trans) ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793605 NCBI chr 1:16,105,882...16,132,550
Ensembl chr 1:16,105,774...16,133,734
JBrowse link
G Tfpi tissue factor pathway inhibitor IMP associated with Hemorrhage; RGD PMID:9242522 RGD:11060259 NCBI chr 2:84,432,855...84,476,775
Ensembl chr 2:84,432,855...84,476,775
JBrowse link
G Tnfrsf1b tumor necrosis factor receptor superfamily, member 1b ISO associated with Endotoxemia; human protein in rat model RGD PMID:21187445 RGD:5131261 NCBI chr 4:145,212,368...145,246,870
Ensembl chr 4:145,213,463...145,246,870
JBrowse link
Fetal Resorption term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoh apolipoprotein H IDA RGD PMID:24642748 RGD:10054118 NCBI chr11:108,395,297...108,414,396
Ensembl chr11:108,343,354...108,414,396
JBrowse link
G Prl prolactin ISO CTD Direct Evidence: therapeutic CTD PMID:3816235 NCBI chr13:27,057,570...27,065,204
Ensembl chr13:27,057,570...27,065,205
JBrowse link
Infant Death term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank2 ankyrin 2, brain ISO ClinVar Annotator: match by term: Death in infancy ClinVar PMID:15075330 PMID:15178757 PMID:16253912 PMID:18782775 PMID:22581653 More... NCBI chr 3:126,921,607...127,500,347
Ensembl chr 3:126,921,612...127,499,350
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 More... NCBI chr 9:114,899,339...114,933,987
Ensembl chr 9:114,899,341...114,933,987
JBrowse link
G Myl2 myosin, light polypeptide 2, regulatory, cardiac, slow ISO ClinVar Annotator: match by term: Death in infancy ClinVar PMID:8673105 PMID:11102452 PMID:11748309 PMID:12668451 PMID:14594949 More... NCBI chr 5:122,092,724...122,113,473
Ensembl chr 5:122,100,951...122,113,472
JBrowse link
G Ryr2 ryanodine receptor 2, cardiac ISO ClinVar Annotator: match by term: Death in infancy ClinVar PMID:19926015 PMID:20157052 PMID:22374134 PMID:22515980 PMID:22677073 More... NCBI chr13:11,553,099...12,106,945
Ensembl chr13:11,553,102...12,106,945
JBrowse link
G Scn3b sodium channel, voltage-gated, type III, beta ISO ClinVar Annotator: match by term: Death in infancy ClinVar PMID:23257389 PMID:23861362 PMID:24033266 PMID:25741868 PMID:27435932 More... NCBI chr 9:40,269,216...40,291,618
Ensembl chr 9:40,269,217...40,291,618
JBrowse link
G Scn5a sodium channel, voltage-gated, type V, alpha ISO ClinVar Annotator: match by term: Death in infancy ClinVar PMID:11901046 PMID:11997281 PMID:14753626 PMID:14760488 PMID:15840476 More... NCBI chr 9:119,483,404...119,579,030
Ensembl chr 9:119,483,408...119,579,016
JBrowse link
G Smn1 survival motor neuron 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27111068 NCBI chr13:100,123,205...100,137,699
Ensembl chr13:100,124,852...100,137,690
JBrowse link
G Trpm7 transient receptor potential cation channel, subfamily M, member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30770447 NCBI chr 2:126,791,558...126,876,261
Ensembl chr 2:126,791,565...126,876,230
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 chr10:75,783,813...75,798,584
Ensembl chr10:75,783,813...75,798,584
JBrowse link
Perinatal Death term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ednrb endothelin receptor type B ISO RGD PMID:8570650 RGD:628515 NCBI chr14:103,814,615...103,844,508
Ensembl chr14:103,814,625...103,844,402
JBrowse link
G Fam20c FAM20C, golgi associated secretory pathway kinase ISO ClinVar Annotator: match by term: Neonatal death ClinVar PMID:25558065 NCBI chr 5:138,755,081...138,810,063
Ensembl chr 5:138,754,514...138,810,077
JBrowse link
G Fancd2 Fanconi anemia, complementation group D2 IMP RGD PMID:12893777 RGD:11344906 NCBI chr 6:113,531,640...113,597,020
Ensembl chr 6:113,531,682...113,597,017
JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Neonatal death ClinVar PMID:25558065 NCBI chr18:58,008,623...58,210,572
Ensembl chr18:58,008,623...58,210,487
JBrowse link
G Kcnma1 potassium large conductance calcium-activated channel, subfamily M, alpha member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28242822 NCBI chr14:23,292,288...24,005,110
Ensembl chr14:23,289,431...24,014,491
JBrowse link
G Lamc3 laminin gamma 3 ISO ClinVar Annotator: match by term: Neonatal death ClinVar PMID:25741868 NCBI chr 2:31,887,281...31,949,083
Ensembl chr 2:31,887,291...31,946,539
JBrowse link
G mt-Tv tRNA valine, mitochondrial ISO ClinVar Annotator: match by term: Neonatal death ClinVar PMID:11799391 PMID:17886296 PMID:18400783 PMID:25652200 PMID:31965079 NCBI chr MT:1,025...1,093
Ensembl chr MT:1,025...1,093
JBrowse link
G Pomgnt2 protein O-linked mannose beta 1,4-N-acetylglucosaminyltransferase 2 ISO ClinVar Annotator: match by term: Neonatal death ClinVar PMID:22958903 PMID:25558065 NCBI chr 9:121,981,606...121,996,053
Ensembl chr 9:121,981,606...121,997,110
JBrowse link
G Spdl1 spindle apparatus coiled-coil protein 1 ISO ClinVar Annotator: match by term: Neonatal death ClinVar PMID:25558065 NCBI chr11:34,809,185...34,833,665
Ensembl chr11:34,809,190...34,833,641
JBrowse link
G Wdr81 WD repeat domain 81 ISO ClinVar Annotator: match by term: Neonatal death ClinVar PMID:25558065 PMID:25741868 PMID:28556411 NCBI chr11:75,440,943...75,454,808
Ensembl chr11:75,440,944...75,454,717
JBrowse link
Preimplantation Embryonic Lethality 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tle6 transducin-like enhancer of split 6 ISO ClinVar Annotator: match by term: Preimplantation embryonic lethality 1 ClinVar
OMIM
PMID:25741868 PMID:26537248 NCBI chr10:81,590,904...81,601,185
Ensembl chr10:81,590,904...81,601,073
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, type VI ISO ClinVar Annotator: match by term: PREIMPLANTATION EMBRYONIC LETHALITY 2 ClinVar
OMIM
PMID:27545678 NCBI chr 4:140,727,355...140,742,643
Ensembl chr 4:140,727,355...140,742,643
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 chr 5:146,230,795...146,302,874
Ensembl chr 5:146,231,230...146,302,874
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 1:78,657,825...78,707,743
Ensembl chr 1:78,657,825...78,707,743
JBrowse link
G Adra2b adrenergic receptor, alpha 2b ISO RGD PMID:12535806 RGD:1559314 NCBI chr 2:127,363,179...127,367,221
Ensembl chr 2:127,363,208...127,367,221
JBrowse link
G Akap9 A kinase (PRKA) anchor protein (yotiao) 9 ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr 5:3,927,736...4,080,204
Ensembl chr 5:3,928,054...4,081,310
JBrowse link
G Ank2 ankyrin 2, brain 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 3:126,921,607...127,500,347
Ensembl chr 3:126,921,612...127,499,350
JBrowse link
G Apob apolipoprotein B ISO RGD PMID:17045270 RGD:1601197 NCBI chr12:7,977,629...8,016,839
Ensembl chr12:7,977,648...8,016,835
JBrowse link
G Cacna1c calcium channel, voltage-dependent, L type, alpha 1C subunit ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar NCBI chr 6:118,587,240...119,197,384
Ensembl chr 6:118,587,240...119,196,890
Ensembl chr 6:118,587,240...119,196,890
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 chr10:53,273,441...53,379,883
Ensembl chr10:53,273,443...53,379,947
JBrowse link
G Dpp6 dipeptidylpeptidase 6 ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar NCBI chr 5:26,817,357...27,727,500
Ensembl chr 5:26,817,203...27,727,505
JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:25741868 NCBI chr18:20,558,074...20,604,526
Ensembl chr18:20,558,074...20,604,521
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 chr13:38,151,294...38,198,577
Ensembl chr13:38,151,294...38,198,577
JBrowse link
G Gja1 gap junction protein, alpha 1 treatment IEP RGD PMID:22093512 RGD:12910124 NCBI chr10:56,377,300...56,390,419
Ensembl chr10:56,377,330...56,402,513
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:28166811 PMID:28492532 NCBI chr 9:114,899,339...114,933,987
Ensembl chr 9:114,899,341...114,933,987
JBrowse link
G Hcn4 hyperpolarization-activated, cyclic nucleotide-gated K+ 4 ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:21615589 PMID:23623143 PMID:23861362 PMID:24033266 PMID:24569893 More... NCBI chr 9:58,822,949...58,863,175
Ensembl chr 9:58,823,412...58,863,175
JBrowse link
G Il6 interleukin 6 susceptibility ISO RGD PMID:23906927 RGD:12792237 NCBI chr 5:30,013,114...30,019,975
Ensembl chr 5:30,013,114...30,019,981
JBrowse link
G Itgb3 integrin beta 3 ISO associated with arteriosclerosis; DNA:polymorphism:exon RGD PMID:20846430 RGD:5128476 NCBI chr11:104,608,000...104,670,476
Ensembl chr11:104,608,000...104,670,476
JBrowse link
G Kcnh2 potassium voltage-gated channel, subfamily H (eag-related), 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 More... NCBI chr 5:24,319,589...24,351,684
Ensembl chr 5:24,319,589...24,351,604
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 7:143,106,877...143,427,050
Ensembl chr 7:143,106,362...143,427,042
JBrowse link
G Kcnq1ot1 KCNQ1 overlapping transcript 1 ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:25741868 NCBI chr 7:143,213,111...143,296,547
Ensembl chr 7:143,203,458...143,296,549
JBrowse link
G Kng2 kininogen 2 susceptibility ISO DNA:SNPs: : RGD PMID:19716087 RGD:10411885 NCBI chr16:22,985,852...23,029,101
Ensembl chr16:22,985,854...23,029,482
JBrowse link
G Lmna lamin A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15996213 NCBI chr 3:88,481,148...88,509,932
Ensembl chr 3:88,480,147...88,509,956
JBrowse link
G mt-Tt tRNA threonine, mitochondrial ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:1379415 PMID:1645537 PMID:8511015 PMID:22638997 PMID:25741868 More... NCBI chr MT:15,289...15,355
Ensembl chr MT:15,289...15,355
JBrowse link
G Mybpc3 myosin binding protein C, cardiac ISO CTD Direct Evidence: marker/mechanism CTD PMID:20435227 NCBI chr 2:91,118,114...91,136,516
Ensembl chr 2:91,118,144...91,136,516
JBrowse link
G Myh6 myosin, heavy polypeptide 6, cardiac muscle, alpha ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:15998695 PMID:20215591 PMID:22194935 PMID:22361390 PMID:23299917 More... NCBI chr14:54,941,921...54,968,017
Ensembl chr14:54,941,921...54,966,927
JBrowse link
G Myh7 myosin, heavy polypeptide 7, cardiac muscle, beta ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:25741868 NCBI chr14:54,970,684...54,994,626
Ensembl chr14:54,970,684...54,994,626
JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:24033266 PMID:28492532 NCBI chr17:71,003,332...71,126,856
Ensembl chr17:71,002,633...71,126,856
JBrowse link
G Nebl nebulette ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar NCBI chr 2:17,342,673...17,734,949
Ensembl chr 2:17,343,909...17,731,464
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:25741868 PMID:27532257 PMID:28492532 NCBI chr16:16,213,345...16,272,712
Ensembl chr16:16,213,318...16,272,712
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 chr10:53,337,686...53,345,999
Ensembl chr10:53,337,667...53,345,987
JBrowse link
G Ryr2 ryanodine receptor 2, cardiac 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 More... NCBI chr13:11,553,099...12,106,945
Ensembl chr13:11,553,102...12,106,945
JBrowse link
G Scn3b sodium channel, voltage-gated, type III, beta ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar NCBI chr 9:40,269,216...40,291,618
Ensembl chr 9:40,269,217...40,291,618
JBrowse link
G Scn5a sodium channel, voltage-gated, type V, alpha 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 More... NCBI chr 9:119,483,404...119,579,030
Ensembl chr 9:119,483,408...119,579,016
JBrowse link
G Sp4 trans-acting transcription factor 4 IAGP RGD PMID:11007485 RGD:1580019 NCBI chr12:118,231,686...118,301,440
Ensembl chr12:118,234,933...118,301,440
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 6:91,473,707...91,488,463
Ensembl chr 6:91,473,703...91,488,463
JBrowse link
G Tnni3 troponin I, cardiac 3 ISO ClinVar Annotator: match by term: Sudden cardiac arrest ClinVar PMID:21839045 PMID:25741868 NCBI chr 7:4,518,305...4,522,718
Ensembl chr 7:4,518,305...4,524,229
JBrowse link
G Tnnt2 troponin T2, cardiac 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 chr 1:135,836,315...135,852,268
Ensembl chr 1:135,836,354...135,852,260
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 7:45,303,155...45,334,071
Ensembl chr 7:45,302,632...45,333,780
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 2:76,703,980...76,982,557
Ensembl chr 2:76,703,980...76,982,547
JBrowse link
Sudden Cardiac Failure, Infantile term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppa2 pyrophosphatase (inorganic) 2 ISO ClinVar Annotator: match by term: Sudden cardiac failure, infantile ClinVar
OMIM
PMID:24033266 PMID:25741868 PMID:27523597 PMID:27523598 PMID:28492532 More... NCBI chr 3:133,310,059...133,378,235
Ensembl chr 3:133,310,110...133,378,235
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 (peptidyl-dipeptidase A) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15331425 NCBI chr11:105,967,948...105,989,964
Ensembl chr11:105,967,945...105,989,964
JBrowse link
G Agt angiotensinogen (serpin peptidase inhibitor, clade A, member 8) ISO CTD Direct Evidence: marker/mechanism CTD PMID:17502491 NCBI chr 8:124,556,587...124,569,706
Ensembl chr 8:124,556,534...124,569,706
JBrowse link
G Anxa5 annexin A5 no_association ISO DNA:polymorphism: :-1C>T (human) RGD PMID:16025836 RGD:1578384 NCBI chr 3:36,448,923...36,475,887
Ensembl chr 3:36,448,923...36,475,894
JBrowse link
G Cacna1c calcium channel, voltage-dependent, L type, alpha 1C subunit ISO ClinVar Annotator: match by term: Sudden unexplained death ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:118,587,240...119,197,384
Ensembl chr 6:118,587,240...119,196,890
Ensembl chr 6:118,587,240...119,196,890
JBrowse link
G Cacnb2 calcium channel, voltage-dependent, beta 2 subunit ISO ClinVar Annotator: match by term: Sudden unexplained death ClinVar PMID:20817017 PMID:24033266 PMID:25637381 PMID:25741868 PMID:28492532 NCBI chr 2:14,603,861...14,988,811
Ensembl chr 2:14,603,088...14,987,908
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 More... NCBI chr 3:102,086,415...102,146,514
Ensembl chr 3:102,086,415...102,146,514
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 More... NCBI chr 7:48,830,398...48,848,051
Ensembl chr 7:48,830,398...48,848,033
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 More... NCBI chr13:38,151,294...38,198,577
Ensembl chr13:38,151,294...38,198,577
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 More... NCBI chr  X:134,588,169...134,601,005
Ensembl chr  X:134,588,149...134,601,125
JBrowse link
G Kcne1 potassium voltage-gated channel, Isk-related subfamily, member 1 ISO ClinVar Annotator: match by term: Sudden unexplained death ClinVar PMID:9328483 PMID:9354783 PMID:9354802 PMID:9445165 PMID:10400998 More... NCBI chr16:92,346,001...92,359,468
Ensembl chr16:92,345,982...92,359,468
JBrowse link
G Kcnh2 potassium voltage-gated channel, subfamily H (eag-related), member 2 ISO ClinVar Annotator: match by term: Sudden unexplained death ClinVar PMID:11468227 PMID:12775564 PMID:14661677 PMID:14975928 PMID:15522280 More... NCBI chr 5:24,319,589...24,351,684
Ensembl chr 5:24,319,589...24,351,604
JBrowse link
G Lmna lamin A ISO ClinVar Annotator: match by term: Sudden unexplained death ClinVar PMID:8619549 PMID:9106535 PMID:10814726 PMID:12628721 PMID:12673789 More... NCBI chr 3:88,481,148...88,509,932
Ensembl chr 3:88,480,147...88,509,956
JBrowse link
G Map2k5 mitogen-activated protein kinase kinase 5 IAGP RGD PMID:11387209 RGD:1580866 NCBI chr 9:63,163,768...63,381,682
Ensembl chr 9:63,163,768...63,377,902
JBrowse link
G mt-Te tRNA glutamic acid, mitochondrial ISO ClinVar Annotator: match by term: Sudden death ClinVar PMID:28027978 PMID:31965079 NCBI chr MT:14,071...14,139
Ensembl chr MT:14,071...14,139
JBrowse link
G mt-Tg tRNA glycine, mitochondrial ISO ClinVar Annotator: match by term: Sudden death ClinVar PMID:8888049 PMID:12621050 PMID:31965079 NCBI chr MT:9,391...9,458
Ensembl chr MT:9,391...9,458
JBrowse link
G Mybpc3 myosin binding protein C, cardiac ISO ClinVar Annotator: match by term: Sudden unexplained death ClinVar NCBI chr 2:91,118,114...91,136,516
Ensembl chr 2:91,118,144...91,136,516
JBrowse link
G Myh7 myosin, heavy polypeptide 7, cardiac muscle, beta ISO ClinVar Annotator: match by term: Sudden unexplained death ClinVar PMID:15358028 PMID:15856146 PMID:16335287 PMID:19808356 PMID:19913502 More... NCBI chr14:54,970,684...54,994,626
Ensembl chr14:54,970,684...54,994,626
JBrowse link
G Mylk2 myosin, light polypeptide kinase 2, skeletal muscle ISO ClinVar Annotator: match by term: Sudden unexplained death ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:152,911,281...152,923,065
Ensembl chr 2:152,911,352...152,923,068
JBrowse link
G Mypn myopalladin ISO ClinVar Annotator: match by term: Sudden unexplained death ClinVar PMID:25741868 PMID:28492532 NCBI chr10:63,115,795...63,203,952
Ensembl chr10:63,115,795...63,203,952
JBrowse link
G Nebl nebulette ISO ClinVar Annotator: match by term: Sudden unexplained death ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:17,342,673...17,734,949
Ensembl chr 2:17,343,909...17,731,464
JBrowse link
G Nrap nebulin-related anchoring protein ISO ClinVar Annotator: match by term: Sudden unexplained death ClinVar NCBI chr19:56,320,037...56,390,062
Ensembl chr19:56,320,035...56,390,037
JBrowse link
G Nsun6 NOL1/NOP2/Sun domain family member 6 ISO ClinVar Annotator: match by term: Sudden unexplained death ClinVar PMID:25741868 NCBI chr 2:14,990,444...15,055,144
Ensembl chr 2:14,995,131...15,055,069
JBrowse link
G Otc ornithine transcarbamylase ISO RGD PMID:17262046 RGD:1601074 NCBI chr  X:10,252,230...10,321,024
Ensembl chr  X:10,252,305...10,321,024
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Sudden unexplained death ClinVar PMID:15489853 PMID:20400443 PMID:23911551 PMID:25741868 PMID:27532257 More... NCBI chr16:16,213,345...16,272,712
Ensembl chr16:16,213,318...16,272,712
JBrowse link
G Ryr2 ryanodine receptor 2, cardiac 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 More... NCBI chr13:11,553,099...12,106,945
Ensembl chr13:11,553,102...12,106,945
JBrowse link
G Scn5a sodium channel, voltage-gated, type V, alpha ISO ClinVar Annotator: match by term: Sudden unexplained death ClinVar PMID:17210839 PMID:17210841 PMID:20129283 PMID:22581653 PMID:24033266 More... NCBI chr 9:119,483,404...119,579,030
Ensembl chr 9:119,483,408...119,579,016
JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Sudden unexplained death
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868 PMID:30391667 NCBI chr 7:45,303,155...45,334,071
Ensembl chr 7:45,302,632...45,333,780
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 polypeptide 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22000980 NCBI chr 7:63,098,692...63,212,526
Ensembl chr 7:63,098,692...63,212,569
JBrowse link
G Chrnb2 cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal) ISO CTD Direct Evidence: marker/mechanism CTD PMID:22000980 NCBI chr 3:89,753,448...89,764,632
Ensembl chr 3:89,746,195...89,764,632
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 More... NCBI chr 9:114,899,339...114,933,987
Ensembl chr 9:114,899,341...114,933,987
JBrowse link
G Kcnh2 potassium voltage-gated channel, subfamily H (eag-related), 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 More... NCBI chr 5:24,319,589...24,351,684
Ensembl chr 5:24,319,589...24,351,604
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 6:142,564,837...142,571,614
Ensembl chr 6:142,564,837...142,571,614
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 More... NCBI chr 7:143,106,877...143,427,050
Ensembl chr 7:143,106,362...143,427,042
JBrowse link
G mt-Nd1 NADH dehydrogenase 1, mitochondrial ISO ClinVar Annotator: match by term: Sudden infant death syndrome
ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME
ClinVar PMID:9299504 PMID:9806551 PMID:10519336 PMID:10521313 PMID:12160969 More... NCBI chr MT:2,751...3,707
Ensembl chr MT:2,751...3,707
JBrowse link
G mt-Tl1 tRNA leucine 1, mitochondrial ISO ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME ClinVar PMID:10519336 PMID:31965079 NCBI chr MT:2,676...2,750
Ensembl chr MT:2,676...2,750
JBrowse link
G Scn1b sodium channel, voltage-gated, type I, beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:22155597 NCBI chr 7:31,116,524...31,127,023
Ensembl chr 7:31,116,524...31,127,003
JBrowse link
G Scn4b sodium channel, type IV, beta ISO ClinVar Annotator: match by term: Sudden infant death syndrome ClinVar PMID:20226894 PMID:25741868 PMID:28492532 NCBI chr 9:45,138,624...45,154,155
Ensembl chr 9:45,138,395...45,154,152
JBrowse link
G Scn5a sodium channel, voltage-gated, type V, alpha susceptibility ISO ClinVar Annotator: match by OMIM:272120
ClinVar Annotator: match by term: Sudden Infant Death
ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME
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 More... NCBI chr 9:119,483,404...119,579,030
Ensembl chr 9:119,483,408...119,579,016
JBrowse link
G Slc6a4 solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 ISO
IEA
CTD Direct Evidence: marker/mechanism
OMIM:272120
CTD
MouseDO
PMID:12599191 NCBI chr11:76,998,597...77,032,343
Ensembl chr11:76,998,603...77,032,340
JBrowse link
G Snta1 syntrophin, acidic 1 susceptibility ISO DNA:missense mutations:cds:multiple RGD PMID:20009079 RGD:6771369 NCBI chr 2:154,376,313...154,408,107
Ensembl chr 2:154,376,313...154,408,099
JBrowse link
G Tspyl1 testis-specific protein, Y-encoded-like 1 ISO sudden infant death with dysgenesis of the testes syndrome (SIDDT), OMIM:608800 RGD PMID:15273283 RGD:1599672 NCBI chr10:34,282,190...34,284,885
Ensembl chr10:34,282,190...34,285,275
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:cerebrospinal fluid RGD PMID:12563064 RGD:634255 NCBI chr17:46,016,993...46,032,377
Ensembl chr17:46,016,993...46,032,369
JBrowse link
G Vhl von Hippel-Lindau tumor suppressor IEA OMIM:272120 MouseDO NCBI chr 6:113,623,994...113,631,634
Ensembl chr 6:113,623,959...113,631,633
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 Dse dermatan sulfate epimerase ISO ClinVar Annotator: match by term: Sudden infant death with dysgenesis of the testes syndrome ClinVar PMID:25741868 NCBI chr10:34,151,389...34,208,282
Ensembl chr10:34,151,393...34,207,715
JBrowse link
G Tspyl1 testis-specific protein, Y-encoded-like 1 ISO ClinVar Annotator: match by term: Sudden infant death with dysgenesis of the testes syndrome
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:15273283 PMID:25741868 NCBI chr10:34,282,190...34,284,885
Ensembl chr10:34,282,190...34,285,275
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14541
    Pathological Conditions, Signs and Symptoms 9499
      Pathologic Processes 6477
        Death 139
          Asphyxia + 19
          Body Remains 0
          Brain Death 5
          Cadaver + 0
          Drowning + 0
          Embryo Loss + 13
          Fetal Death + 15
          Infant Death + 23
          Parental Death + 0
          Perinatal Death 10
          Sudden Death + 70
paths to the root