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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:narrow_synonym: Cardiac Death;   DEATH IN EARLY ADULTHOOD;   death by undetermined cause;   death from disease
 related_synonym: Determination of Death;   Near-Death Experience
 primary_id: MESH:D003643;   RDO:0004928
 xref: EFO:0009434;   EFO:0030050;   EFO:0030051


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 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035 		JBrowse link
G Apob apolipoprotein B ISO associated with Diabetes Mellitus, Insulin-Dependent RGD PMID:19412820 RGD:2313977 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497 		JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: therapeutic CTD PMID:18597747 NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148 		JBrowse link
G F12 coagulation factor XII ISO RGD PMID:17388965 RGD:11041782 NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530 		JBrowse link
G Gria2 glutamate ionotropic receptor AMPA type subunit 2 ISO RGD PMID:7502080 RGD:737715 NCBI chr 2:165,949,379...166,069,510
Ensembl chr 2:165,947,521...166,069,510 		JBrowse link
G Myl2 myosin light chain 2 ISO ClinVar Annotator: match by term: Death in early adulthood ClinVar PMID:203862 PMID:08673105 PMID:9724616 PMID:10948063 PMID:11102452 More... NCBI chr12:34,454,223...34,468,554
Ensembl chr12:34,454,218...34,468,983 		JBrowse link
G Nppb natriuretic peptide B ISO associated with Hypertension, Pulmonary RGD PMID:17296640 RGD:1642194 NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168 		JBrowse link
G Pde9a phosphodiesterase 9A sexual_dimorphism ISO associated with coronary artery disease;DNA:SNP: :rs8133010 (human) RGD PMID:35959094 RGD:242905186 NCBI chr20:9,469,809...9,562,949
Ensembl chr20:9,469,848...9,562,948 		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:25741868 PMID:27435932 More... NCBI chr 1:86,353,917...86,363,820
Ensembl chr 1:86,353,917...86,363,739 		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 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769 		JBrowse link
Alcohol-Induced Sudden Cardiac Failure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppa2 inorganic pyrophosphatase 2 ISO ClinVar Annotator: match by term: Sudden cardiac failure, alcohol-induced OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:27523597 PMID:27523598 PMID:28492532 More... NCBI chr 2:221,800,791...221,878,079
Ensembl chr 2:221,800,842...221,878,081 		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 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
G Ift80 intraflagellar transport 80 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17468754 NCBI chr 2:153,144,707...153,240,024
Ensembl chr 2:153,145,795...153,240,024 		JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:18620825 RGD:4890002 NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656 		JBrowse link
G Sox4 SRY-box transcription factor 4 IDA RGD PMID:12011571 RGD:1581119 NCBI chr17:35,667,809...35,672,515
Ensembl chr17:35,667,537...35,673,665 		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 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Asphyxia neonatorum ClinVar PMID:8364588 PMID:25741868 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		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 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit IEP mRNA:decreased expression:brain RGD PMID:9763211 RGD:2302855 NCBI chr18:23,883,613...23,914,326
Ensembl chr18:23,883,580...23,914,329 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 severity ISO DNA:deletion, haplotype:: (human) RGD PMID:21058530 RGD:12792218 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Htra2 HtrA serine peptidase 2 treatment IEP protein:increased expression:kidney: RGD PMID:20704803 RGD:10402931 NCBI chr 4:115,556,914...115,560,202
Ensembl chr 4:115,556,916...115,560,095 		JBrowse link
G Map2 microtubule-associated protein 2 IEP RGD PMID:21858873 RGD:6483085 NCBI chr 9:67,723,422...67,981,886
Ensembl chr 9:67,723,371...67,979,809 		JBrowse link
G Pdia3 protein disulfide isomerase family A, member 3 IEP protein:increased expression:hippocampus: RGD PMID:15453273 RGD:9999183 NCBI chr 3:108,388,189...108,412,013
Ensembl chr 3:108,388,245...108,413,236 		JBrowse link
G Psen1 presenilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963755 NCBI chr 6:103,323,052...103,375,088
Ensembl chr 6:103,323,120...103,371,650 		JBrowse link
G Psen2 presenilin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963755 NCBI chr13:91,967,506...91,993,240
Ensembl chr13:91,967,983...91,993,174 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963755 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G S100b S100 calcium binding protein B ISO protein:increased expression:urine RGD PMID:14707571 RGD:5508819 NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743 		JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963755 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963755 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Xrcc1 X-ray repair cross complementing 1 IEP mRNA:increased expression:brain RGD PMID:9763211 RGD:2302855 NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701 		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 chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Icam1 intercellular adhesion molecule 1 IEP mRNA:increased expression:lung (rat) RGD PMID:20810760 RGD:4145365 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Inhbb inhibin subunit beta B IEP mRNA:increased expression:kidney (rat) RGD PMID:15808645 RGD:9743920 NCBI chr13:30,530,860...30,536,566
Ensembl chr13:30,530,860...30,537,832 		JBrowse link
G Itgam integrin subunit alpha M IEP protein:increased expression:neutrophil (rat) RGD PMID:18347540 RGD:329901924 NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503 		JBrowse link
G Map2k4 mitogen activated protein kinase kinase 4 IDA RGD PMID:23157661 RGD:7495829 NCBI chr10:50,343,227...50,447,956
Ensembl chr10:50,344,915...50,447,993 		JBrowse link
G Map2k6 mitogen-activated protein kinase kinase 6 IDA RGD PMID:23157661 RGD:7495829 NCBI chr10:95,373,304...95,490,406
Ensembl chr10:95,373,204...95,488,293 		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 1:201,507,763...201,517,607
Ensembl chr 1:201,507,859...201,517,605 		JBrowse link
G Crlf1 cytokine receptor-like factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cold-induced sweating syndrome		 CTD
ClinVar		 PMID:20186812 PMID:25741868 NCBI chr16:18,924,722...18,936,049
Ensembl chr16:18,924,722...18,935,997 		JBrowse link
G Klhl7 kelch-like family member 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541 		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 chr16:18,924,722...18,936,049
Ensembl chr16:18,924,722...18,935,997 		JBrowse link
G Klhl7 kelch-like family member 7 ISO ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 ClinVar PMID:25741868 PMID:27392078 NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541 		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 1:201,507,763...201,517,607
Ensembl chr 1:201,507,859...201,517,605 		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: KLHL7-related condition | ClinVar Annotator: match by term: PERCHING syndrome OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:25741868 PMID:27392078 More... NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541 		JBrowse link
Embryo Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdk2 cyclin dependent kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038060 NCBI chr 7:1,129,878...1,137,431
Ensembl chr 7:1,129,811...1,137,403 		JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038060 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585 		JBrowse link
G Cxcl12 C-X-C motif chemokine ligand 12 ISO associated with Diabetes Mellitus, Insulin-Dependent RGD PMID:18384776 RGD:2306554 NCBI chr 4:150,388,326...150,401,173
Ensembl chr 4:150,388,325...150,401,168 		JBrowse link
G Foxo3 forkhead box O3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038060 NCBI chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561 		JBrowse link
G Gpx4 glutathione peroxidase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12566075 NCBI chr 7:9,650,186...9,652,982
Ensembl chr 7:9,650,185...9,652,982 		JBrowse link
G Grk2 G protein-coupled receptor kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17008600 NCBI chr 1:201,580,823...201,601,580
Ensembl chr 1:201,581,480...201,601,582 		JBrowse link
G Igf2 insulin-like growth factor 2 IDA DNA:methylation: : RGD PMID:18778817 RGD:5509951 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018 		JBrowse link
G Il18 interleukin 18 IEP RGD PMID:21920610 RGD:8655947 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Lcmt1 leucine carboxyl methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17724024 NCBI chr 1:177,904,119...177,960,111
Ensembl chr 1:177,904,139...177,960,112 		JBrowse link
G Lif LIF, interleukin 6 family cytokine ISO CTD Direct Evidence: marker/mechanism CTD PMID:23409146 NCBI chr14:79,131,049...79,140,486
Ensembl chr14:79,134,574...79,140,482 		JBrowse link
G Map3k7 mitogen activated protein kinase kinase kinase 7 ISO RGD PMID:22972987 RGD:155663421 NCBI chr 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597 		JBrowse link
G Mir105 microRNA 105 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038060 NCBI chr  X:150,438,529...150,438,601
Ensembl chr  X:150,438,529...150,438,601 		JBrowse link
G Nlrp5 NLR family, pyrin domain containing 5 ISO ClinVar Annotator: match by term: Preimplantation embryonic lethality ClinVar NCBI chr 1:67,778,037...67,810,941
Ensembl chr 1:67,777,948...68,023,736 		JBrowse link
G Parg poly (ADP-ribose) glycohydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15591342 NCBI chr16:7,436,429...7,544,276
Ensembl chr16:7,436,476...7,544,273 		JBrowse link
G Sall1 spalt-like transcription factor 1 ISO RGD PMID:11688560 RGD:155641230 NCBI chr19:18,005,782...18,022,705
Ensembl chr19:18,007,503...18,022,705 		JBrowse link
G Sall4 spalt-like transcription factor 4 ISO RGD PMID:16790473 RGD:155631313 NCBI chr 3:157,474,067...157,491,055
Ensembl chr 3:157,474,642...157,490,822 		JBrowse link
G Slc31a1 solute carrier family 31 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11391004 NCBI chr 5:75,814,744...75,844,241
Ensembl chr 5:75,814,743...75,844,228 		JBrowse link
G Tab2 TGF-beta activated kinase 1/MAP3K7 binding protein 2 ISO RGD PMID:22972987 RGD:155663421 NCBI chr 1:2,375,026...2,425,115
Ensembl chr 1:2,375,490...2,424,756 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO RGD PMID:22972987 RGD:155663421 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591 		JBrowse link
G Ube2n ubiquitin-conjugating enzyme E2N ISO CTD Direct Evidence: marker/mechanism CTD PMID:16738225 NCBI chr 7:30,154,330...30,184,373
Ensembl chr 7:30,154,616...30,184,355 		JBrowse link
Familial Sudden Death term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd11 ankyrin repeat domain containing 11 ISO ClinVar Annotator: match by term: Sudden unexplained death in childhood ClinVar PMID:25413698 PMID:25741868 PMID:31191201 NCBI chr19:50,940,284...51,098,962
Ensembl chr19:50,940,299...51,098,962 		JBrowse link
G Brpf1 bromodomain and PHD finger containing, 1 ISO ClinVar Annotator: match by term: Sudden unexplained death in childhood ClinVar PMID:25741868 PMID:32652122 NCBI chr 4:146,456,325...146,472,781
Ensembl chr 4:146,456,318...146,472,649 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Sudden unexplained death in childhood ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO ClinVar Annotator: match by term: Sudden unexplained death in childhood ClinVar PMID:25741868 NCBI chr10:26,374,693...26,463,937
Ensembl chr10:26,374,694...26,464,346 		JBrowse link
G Ryr2 ryanodine receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31913406 NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142 		JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Sudden unexplained death in childhood ClinVar PMID:25741868 NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699 		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 chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Ahsp alpha hemoglobin stabilizing protein ISO mRNA, protein:decreased expression:placenta (human) RGD PMID:18347943 RGD:329956422 NCBI chr 1:182,879,901...182,885,508
Ensembl chr 1:182,880,076...182,885,506 		JBrowse link
G Atr ATR serine/threonine kinase ISO RGD PMID:15282542 RGD:150340675 NCBI chr 8:96,426,704...96,524,152
Ensembl chr 8:96,426,724...96,524,136 		JBrowse link
G F5 coagulation factor V no_association ISO RGD PMID:14706682 RGD:1580130 NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317 		JBrowse link
G Grhl3 grainyhead-like transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:6635991 NCBI chr 5:147,774,161...147,806,291
Ensembl chr 5:147,774,160...147,806,160 		JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO RGD PMID:20393889 RGD:12910472 NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662 		JBrowse link
G Lpar1 lysophosphatidic acid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11087877 NCBI chr 5:73,229,047...73,347,874
Ensembl chr 5:73,229,625...73,369,895 		JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29255069 NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737 		JBrowse link
G Oxt oxytocin/neurophysin I prepropeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:5067144 NCBI chr 3:117,782,650...117,783,490
Ensembl chr 3:117,782,650...117,783,490 		JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11023856 NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335 		JBrowse link
G Rdh10 retinol dehydrogenase 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793605 NCBI chr 5:3,186,671...3,215,572
Ensembl chr 5:3,188,445...3,215,572 		JBrowse link
G Tfpi tissue factor pathway inhibitor ISO associated with Hemorrhage; RGD PMID:9242522 RGD:11060259 NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880 		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 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206 		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 chr10:93,342,435...93,356,334
Ensembl chr10:93,310,977...93,356,329 		JBrowse link
G Prl prolactin ISO CTD Direct Evidence: therapeutic CTD PMID:3816235 NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062 		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 More... NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923 		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 8:114,591,103...114,620,771
Ensembl chr 8:114,588,487...114,620,723 		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 More... NCBI chr12:34,454,223...34,468,554
Ensembl chr12:34,454,218...34,468,983 		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 More... NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142 		JBrowse link
G Scn3b sodium voltage-gated channel beta subunit 3 ISO ClinVar Annotator: match by term: Death in infancy ClinVar PMID:23257389 PMID:23861362 PMID:24033266 PMID:25741868 PMID:27435932 More... NCBI chr 8:40,630,372...40,652,869
Ensembl chr 8:40,630,455...40,652,868 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Death in infancy ClinVar PMID:11901046 PMID:11997281 PMID:14753626 PMID:14760488 PMID:15840476 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769 		JBrowse link
G Smn1 survival of motor neuron 1, telomeric ISO CTD Direct Evidence: marker/mechanism CTD PMID:27111068 NCBI chr 2:31,490,018...31,501,065
Ensembl chr 2:31,490,015...31,501,060 		JBrowse link
G Trpm7 transient receptor potential cation channel, subfamily M, member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30770447 NCBI chr 3:114,046,258...114,134,799
Ensembl chr 3:114,046,258...114,135,190 		JBrowse link
G Zmiz2 zinc finger, MIZ-type containing 2 ISO ClinVar Annotator: match by term: Death in infancy ClinVar NCBI chr14:81,251,391...81,267,936
Ensembl chr14:81,251,417...81,267,936 		JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 15 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 OMIM
ClinVar		 PMID:25741868 PMID:26537248 PMID:36271123 NCBI chr 7:8,107,050...8,118,639
Ensembl chr 7:8,107,207...8,118,639 		JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 16 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 OMIM
ClinVar		 PMID:17587491 PMID:18599511 PMID:25741868 PMID:27545678 PMID:34987164 More... NCBI chr 5:153,021,855...153,037,443
Ensembl chr 5:153,021,965...153,037,414 		JBrowse link
Perinatal Asphyxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cers1 ceramide synthase 1 IEP RGD PMID:23625371 RGD:156431056 NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,104,466...19,112,519 		JBrowse link
G Cert1 ceramide transporter 1 IEP RGD PMID:23625371 RGD:156431056 NCBI chr 2:27,882,546...27,987,090
Ensembl chr 2:27,882,555...27,987,074 		JBrowse link
G Gpx3 glutathione peroxidase 3 severity ISO protein:increased expression:plasma RGD PMID:18279752 RGD:401827841 NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 severity ISO DNA:deletion:: (human) RGD PMID:21058530 RGD:12792218 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Hnrnpk heterogeneous nuclear ribonucleoprotein K treatment IEP RGD PMID:33951501 RGD:155269042 NCBI chr17:6,262,936...6,275,001
Ensembl chr17:6,262,998...6,274,997 		JBrowse link
G Osbp oxysterol binding protein IEP RGD PMID:23625371 RGD:156431056 NCBI chr 1:208,888,697...208,918,511
Ensembl chr 1:208,887,895...208,918,506 		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 IAGP RGD PMID:8570650 RGD:628515 NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115 		JBrowse link
G Fam20c FAM20C, golgi associated secretory pathway kinase ISO ClinVar Annotator: match by term: Neonatal death ClinVar PMID:25558065 NCBI chr12:15,826,864...15,885,423
Ensembl chr12:15,826,871...15,884,543 		JBrowse link
G Fancd2 FA complementation group D2 ISO RGD PMID:12893777 RGD:11344906 NCBI chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412 		JBrowse link
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28242822 NCBI chr15:302,480...1,007,675
Ensembl chr15:302,214...1,001,198 		JBrowse link
G Lamc3 laminin subunit gamma 3 ISO ClinVar Annotator: match by term: Neonatal death ClinVar PMID:25741868 PMID:28492532 PMID:33639934 NCBI chr 3:15,165,220...15,226,697
Ensembl chr 3:15,165,220...15,226,697 		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 PMID:25741868 PMID:28492532 PMID:31130284 NCBI chr 8:121,645,106...121,660,761
Ensembl chr 8:121,644,970...121,660,757 		JBrowse link
G Spdl1 spindle apparatus coiled-coil protein 1 ISO ClinVar Annotator: match by term: Neonatal death ClinVar PMID:25558065 NCBI chr10:19,269,125...19,294,213
Ensembl chr10:19,269,127...19,294,127 		JBrowse link
G Wdr81 WD repeat domain 81 ISO ClinVar Annotator: match by term: Neonatal death ClinVar PMID:25558065 PMID:25741868 PMID:28556411 NCBI chr10:60,281,969...60,295,374
Ensembl chr10:60,281,972...60,295,296 		JBrowse link
G Zfpm2 zinc finger protein, multitype 2 ISO RGD PMID:25196150 RGD:155882481 NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205 		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 9:80,115,164...80,164,636
Ensembl chr 9:80,115,112...80,164,627 		JBrowse link
G Adra2b adrenoceptor alpha 2B ISO RGD PMID:12535806 RGD:1559314 NCBI chr 3:114,585,174...114,589,220
Ensembl chr 3:114,585,169...114,589,355 		JBrowse link
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr 4:30,056,738...30,192,716
Ensembl chr 4:30,056,738...30,192,606 		JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Sudden cardiac arrest | ClinVar Annotator: match by term: Sudden cardiac death ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:12571597 RGD:734572 NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923 		JBrowse link
G Apob apolipoprotein B ISO RGD PMID:17045270 RGD:1601197 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497 		JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648 		JBrowse link
G Cep85l centrosomal protein 85-like ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:12639993 PMID:16235537 PMID:17655857 PMID:21167350 PMID:21332051 More... NCBI chr20:32,568,417...32,739,449
Ensembl chr20:32,572,741...32,739,516 		JBrowse link
G Dpp6 dipeptidyl peptidase like 6 ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar NCBI chr 4:7,589,386...8,508,666
Ensembl chr 4:7,591,009...8,508,532 		JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:25741868 NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156 		JBrowse link
G Dsp desmoplakin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20435227 NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
G Gja1 gap junction protein, alpha 1 treatment ISO RGD PMID:22093512 RGD:12910124 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
G Gpd1l glycerol-3-phosphate dehydrogenase 1 like ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:23861362 PMID:25741868 PMID:27930701 PMID:28492532 NCBI chr 8:114,591,103...114,620,771
Ensembl chr 8:114,588,487...114,620,723 		JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:21615589 PMID:23623143 PMID:23861362 PMID:24033266 PMID:25145517 More... NCBI chr 8:59,222,206...59,259,626
Ensembl chr 8:59,221,653...59,259,639 		JBrowse link
G Il6 interleukin 6 susceptibility ISO RGD PMID:23906927 RGD:12792237 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Itgb3 integrin subunit beta 3 ISO associated with arteriosclerosis; DNA:polymorphism:exon RGD PMID:20846430 RGD:5128476 NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679 		JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Sudden cardiac arrest | ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:18508782 PMID:19716085 PMID:22581653 PMID:25417810 PMID:25741868 More... NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008 		JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:25741868 NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669 		JBrowse link
G Kng1 kininogen 1 susceptibility ISO DNA:SNPs: : RGD PMID:19716087 RGD:10411885 NCBI chr11:77,812,757...77,835,555
Ensembl chr11:77,812,752...77,835,555 		JBrowse link
G Kng2 kininogen 2 susceptibility ISO DNA:SNPs: : RGD PMID:19716087 RGD:10411885 NCBI chr11:77,913,876...77,936,247
Ensembl chr11:77,909,612...78,002,971 		JBrowse link
G Lmna lamin A/C ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Family history of sudden cardiac death		 CTD
ClinVar		 PMID:15996213 PMID:17711925 PMID:24623722 PMID:25741868 PMID:28492532 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20435227 NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:25741868 NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217 		JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:24033266 PMID:28492532 NCBI chr 9:110,916,156...111,039,344
Ensembl chr 9:110,915,943...111,039,344 		JBrowse link
G Nebl nebulette ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar NCBI chr17:80,113,891...80,466,331
Ensembl chr17:80,118,543...80,466,210 		JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:25741868 PMID:27532257 PMID:28492532 PMID:29802319 PMID:31402444 NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730 		JBrowse link
G Pln phospholamban ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:12639993 PMID:16235537 PMID:17655857 PMID:21167350 PMID:21332051 More... NCBI chr20:32,629,537...32,639,559 JBrowse link
G Ryr2 ryanodine receptor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sudden cardiac arrest | ClinVar Annotator: match by term: Sudden cardiac death		 CTD
ClinVar		 PMID:12459180 PMID:22787013 PMID:23861362 PMID:24033266 PMID:25650408 More... NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142 		JBrowse link
G Scn3b sodium voltage-gated channel beta subunit 3 ISO ClinVar Annotator: match by term: Sudden cardiac death ClinVar NCBI chr 8:40,630,372...40,652,869
Ensembl chr 8:40,630,455...40,652,868 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Sudden cardiac arrest | ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:14985827 PMID:15851227 PMID:16712702 PMID:18378609 PMID:18508782 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769 		JBrowse link
G Slc25a4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Family history of sudden cardiac death ClinVar PMID:25741868 PMID:28492532 NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733 		JBrowse link
G Sp4 Sp4 transcription factor ISO RGD PMID:11007485 RGD:1580019 NCBI chr 6:139,187,458...139,252,741
Ensembl chr 6:139,192,147...139,252,126 		JBrowse link
G Tmem43 transmembrane protein 43 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sudden cardiac arrest		 CTD
ClinVar		 PMID:20435227 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825 		JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Sudden cardiac arrest ClinVar PMID:21839045 PMID:25741868 NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580 		JBrowse link
G Tnnt2 troponin T2, cardiac type ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sudden cardiac death		 CTD
ClinVar		 PMID:17556660 PMID:23233322 PMID:24033266 PMID:24503780 PMID:25741868 More... NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388 		JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Family history of sudden cardiac death | ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:20562447 PMID:21887725 PMID:23382873 PMID:24019741 PMID:25416190 More... NCBI chr 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Sudden cardiac arrest | ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:19608031 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
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: PPA2-Related Disorders | ClinVar Annotator: match by term: Sudden cardiac failure, infantile OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:27523597 PMID:27523598 PMID:28492532 More... NCBI chr 2:221,800,791...221,878,079
Ensembl chr 2:221,800,842...221,878,081 		JBrowse link
Sudden 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 chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:17502491 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
G Anxa5 annexin A5 no_association ISO DNA:polymorphism: :-1C>T (human) RGD PMID:16025836 RGD:1578384 NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369 		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 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648 		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 chr17:77,564,630...77,910,000
Ensembl chr17:77,564,460...77,909,106 		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 2:189,526,003...189,582,276
Ensembl chr 2:189,525,960...189,582,267 		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 1:98,528,067...98,546,647
Ensembl chr 1:98,528,068...98,546,653 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Sudden death | ClinVar Annotator: match by term: Sudden unexplained death ClinVar PMID:20031617 PMID:20152563 PMID:23861362 PMID:24033266 PMID:25741868 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		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:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664 		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 More... NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901 		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 More... NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008 		JBrowse link
G Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 ISO ClinVar Annotator: match by term: Sudden unexplained death ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:175,508,908...175,515,829
Ensembl chr 4:175,508,912...175,515,603 		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 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Map2k5 mitogen activated protein kinase kinase 5 ISO RGD PMID:11387209 RGD:1580866 NCBI chr 8:63,625,220...63,852,090
Ensembl chr 8:63,625,221...63,851,983 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Sudden unexplained death ClinVar NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405 		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 More... NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217 		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 3:141,376,450...141,388,357
Ensembl chr 3:141,376,691...141,387,728 		JBrowse link
G Mypn myopalladin ISO ClinVar Annotator: match by term: Sudden unexplained death ClinVar PMID:25741868 PMID:28492532 NCBI chr20:25,429,898...25,522,443
Ensembl chr20:25,436,843...25,522,443 		JBrowse link
G Nebl nebulette ISO ClinVar Annotator: match by term: Sudden unexplained death ClinVar PMID:24033266 PMID:25741868 PMID:25987543 PMID:27186169 PMID:27662471 More... NCBI chr17:80,113,891...80,466,331
Ensembl chr17:80,118,543...80,466,210 		JBrowse link
G Npr1 natriuretic peptide receptor 1 ISO associated with Hypertension RGD PMID:9405681 RGD:737701 NCBI chr 2:175,934,181...175,950,118
Ensembl chr 2:175,934,181...175,949,505 		JBrowse link
G Nrap nebulin-related anchoring protein ISO ClinVar Annotator: match by term: Sudden unexplained death ClinVar NCBI chr 1:255,350,113...255,427,704
Ensembl chr 1:255,350,113...255,427,693 		JBrowse link
G Otc ornithine transcarbamylase ISO RGD PMID:17262046 RGD:1601074 NCBI chr  X:12,453,834...12,529,954
Ensembl chr  X:12,453,834...12,566,918 		JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Sudden unexplained death ClinVar PMID:15489853 PMID:17010805 PMID:20400443 PMID:23183494 PMID:23911551 More... NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730 		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:12459180 PMID:22787013 PMID:23861362 PMID:24033266 PMID:25650408 More... NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Sudden unexplained death ClinVar PMID:17210839 PMID:17210841 PMID:19716085 PMID:20129283 PMID:22581653 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769 		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 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532 		JBrowse link
sudden infant death syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap10 A-kinase anchoring protein 10 ISO ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME ClinVar PMID:25741868 NCBI chr10:46,545,371...46,608,730
Ensembl chr10:46,551,532...46,608,769 		JBrowse link
G Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME ClinVar PMID:25741868 NCBI chr  X:107,906,320...107,968,232
Ensembl chr  X:107,885,093...107,942,695 		JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME ClinVar PMID:25741868 PMID:28492532 NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225 		JBrowse link
G Calm2 calmodulin 2 ISO ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME ClinVar NCBI chr 6:7,091,624...7,104,284
Ensembl chr 6:7,091,567...7,104,287
Ensembl chr15:7,091,567...7,104,287 		JBrowse link
G Cav3 caveolin 3 ISO ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME ClinVar PMID:12666119 PMID:15580566 PMID:25741868 PMID:28492532 PMID:35027292 NCBI chr 4:145,582,168...145,598,142
Ensembl chr 4:145,582,060...145,598,137 		JBrowse link
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:22000980 NCBI chr 1:116,711,559...116,837,269
Ensembl chr 1:116,714,711...116,837,240 		JBrowse link
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:22000980 NCBI chr 2:175,181,402...175,189,619
Ensembl chr 2:175,181,402...175,189,619 		JBrowse link
G Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME ClinVar PMID:25741868 NCBI chr14:77,732,297...77,862,924
Ensembl chr14:77,732,297...77,862,794 		JBrowse link
G Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A ISO ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME ClinVar PMID:25741868 NCBI chr11:33,890,706...34,009,420
Ensembl chr11:33,890,490...34,009,420 		JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 4:58,034,088...58,061,882
Ensembl chr 4:58,034,189...58,061,844 		JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 ISO ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME ClinVar PMID:11742254 PMID:12189488 PMID:25741868 PMID:28492532 NCBI chr 1:108,467,047...108,702,522
Ensembl chr 1:108,296,124...108,698,961 		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 8:114,591,103...114,620,771
Ensembl chr 8:114,588,487...114,620,723 		JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME ClinVar PMID:25741868 PMID:28492532 PMID:30461122 PMID:35027292 NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901 		JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME ClinVar PMID:15913580 PMID:17210839 PMID:18222468 PMID:18596570 PMID:18675227 More... NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008 		JBrowse link
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 ISO ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME ClinVar PMID:25741868 PMID:28341588 PMID:28492532 PMID:29874177 NCBI chr10:96,060,834...96,071,397
Ensembl chr10:96,060,821...96,071,445 		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 4:175,508,908...175,515,829
Ensembl chr 4:175,508,912...175,515,603 		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 ClinVar PMID:15913580 PMID:16534005 PMID:17210839 PMID:17222736 PMID:17470695 More... NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669 		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 More... NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME ClinVar PMID:9048664 PMID:9562578 PMID:11499718 PMID:11499719 PMID:12707239 More... NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405 		JBrowse link
G Oxtr oxytocin receptor ISO ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME ClinVar PMID:12666119 PMID:15580566 PMID:25741868 PMID:28492532 PMID:35027292 NCBI chr 4:145,598,549...145,614,674
Ensembl chr 4:145,599,561...145,614,674 		JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME ClinVar PMID:8962591 PMID:20002125 PMID:20002461 PMID:24718837 PMID:25741868 More... NCBI chr  X:34,700,481...34,714,309
Ensembl chr  X:34,700,409...34,714,311 		JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME ClinVar PMID:25741868 PMID:28492532 PMID:29601086 NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699 		JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22155597 NCBI chr 1:86,353,917...86,363,820
Ensembl chr 1:86,353,917...86,363,739 		JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME ClinVar PMID:25741868 NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545 		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:23465283 PMID:23861362 PMID:25741868 PMID:28492532 More... NCBI chr 8:45,446,580...45,462,294
Ensembl chr 8:45,446,215...45,462,292 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME | ClinVar Annotator: match by term: Sudden Infant Death		 CTD
ClinVar
OMIM		 PMID:291807 PMID:461398 PMID:1309946 PMID:2030070 PMID:8661019 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769 		JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292 		JBrowse link
G Slc6a4 solute carrier family 6 member 4 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:272120		 CTD
MouseDO		 PMID:12599191 NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384 		JBrowse link
G Snta1 syntrophin, alpha 1 susceptibility ISO DNA:missense mutations:cds:multiple RGD PMID:20009079 RGD:6771369 NCBI chr 3:142,876,285...142,906,737
Ensembl chr 3:142,876,296...142,906,709 		JBrowse link
G Tcf4 transcription factor 4 ISO ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME ClinVar PMID:25741868 NCBI chr18:62,941,739...63,288,126
Ensembl chr18:62,943,782...63,284,425 		JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME | ClinVar Annotator: match by term: Sudden Infant Death ClinVar PMID:9241277 PMID:10098965 PMID:11735257 PMID:12531876 PMID:12707239 More... NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580 		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 chr20:38,082,003...38,084,562
Ensembl chr20:38,081,951...38,084,554
Ensembl chr20:38,081,951...38,084,554 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME | ClinVar Annotator: match by term: Sudden Infant Death ClinVar PMID:17344846 PMID:22335739 PMID:23975875 PMID:24033266 PMID:25589632 More... NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:cerebrospinal fluid RGD PMID:12563064 RGD:634255 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISS OMIM:272120 MouseDO NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377 		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:15273283 PMID:25741868 NCBI chr20:26,118,194...26,196,889
Ensembl chr20:26,118,196...26,196,992 		JBrowse link
G Tspyl1 TSPY-like 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sudden infant death with dysgenesis of the testes syndrome		 OMIM
CTD
ClinVar		 PMID:15273283 PMID:25741868 NCBI chr20:38,082,003...38,084,562
Ensembl chr20:38,081,951...38,084,554
Ensembl chr20:38,081,951...38,084,554 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    Pathological Conditions, Signs and Symptoms 13532
      Pathologic Processes 8240
        Death 173
          Asphyxia + 25
          Body Remains 0
          Brain Death 6
          Cadaver + 0
          Drowning + 0
          Embryo Loss + 22
          Fetal Death + 15
          Infant Death + 43
          Parental Death + 0
          Perinatal Death 10
          Sudden Death + 86
paths to the root