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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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



show annotations for term's descendants           Sort by:
 
Death term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOA1 apolipoprotein A1 EXP CTD Direct Evidence: therapeutic CTD PMID:20972769 NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622
JBrowse link
G APOB apolipoprotein B IEP associated with Diabetes Mellitus, Insulin-Dependent RGD PMID:19412820 RGD:2313977 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
JBrowse link
G BCHE butyrylcholinesterase EXP CTD Direct Evidence: therapeutic CTD PMID:18597747 NCBI chr 3:165,772,904...165,837,423
Ensembl chr 3:165,772,904...165,837,462
JBrowse link
G F12 coagulation factor XII IEP RGD PMID:17388965 RGD:11041782 NCBI chr 5:177,402,138...177,409,564
Ensembl chr 5:177,402,141...177,409,564
JBrowse link
G GRIA2 glutamate ionotropic receptor AMPA type subunit 2 ISO RGD PMID:7502080 RGD:737715 NCBI chr 4:157,220,120...157,370,583
Ensembl chr 4:157,204,182...157,366,075
JBrowse link
G LOC114827850 VISTA enhancer hs2149 IAGP ClinVar Annotator: match by term: Death in early adulthood ClinVar PMID:08673105 PMID:9724616 PMID:10948063 PMID:11102452 PMID:12404107 More... NCBI chr12:110,918,953...110,921,387 JBrowse link
G MYL2 myosin light chain 2 IAGP ClinVar Annotator: match by term: Death in early adulthood ClinVar PMID:08673105 PMID:9724616 PMID:10948063 PMID:11102452 PMID:12404107 More... NCBI chr12:110,910,845...110,920,579
Ensembl chr12:110,910,819...110,921,443
JBrowse link
G NPPB natriuretic peptide B IEP associated with Hypertension, Pulmonary RGD PMID:17296640 RGD:1642194 NCBI chr 1:11,857,464...11,858,945
Ensembl chr 1:11,857,464...11,858,945
JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 IAGP ClinVar Annotator: match by term: Death in early adulthood ClinVar PMID:19808477 PMID:24033266 PMID:24055113 PMID:27435932 NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP ClinVar Annotator: match by term: Death in early adulthood ClinVar PMID:11997281 PMID:14760488 PMID:15840476 PMID:18071069 PMID:19716085 More... NCBI chr 3:38,548,061...38,649,687
Ensembl chr 3:38,548,057...38,649,687
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 IAGP 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 4:105,369,077...105,474,070
Ensembl chr 4:105,369,077...105,474,067
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 ISO mRNA, protein:increased expression:myocardium, lung (rat) RGD PMID:17285858 RGD:9068458 NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259
JBrowse link
G IFT80 intraflagellar transport 80 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17468754 NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880
JBrowse link
G JUN Jun proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:18620825 RGD:4890002 NCBI chr 1:58,780,791...58,784,047
Ensembl chr 1:58,776,845...58,784,048
JBrowse link
G SOX4 SRY-box transcription factor 4 ISO RGD PMID:12011571 RGD:1581119 NCBI chr 6:21,593,751...21,598,619
Ensembl chr 6:21,593,751...21,598,619
JBrowse link
asphyxia neonatorum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAT catalase EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963755 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO mRNA:increased expression:brain RGD PMID:9763211 RGD:2302855 NCBI chr19:45,349,837...45,370,647
Ensembl chr19:45,349,837...45,370,918
JBrowse link
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO mRNA:decreased expression:brain RGD PMID:9763211 RGD:2302855 NCBI chr 2:127,257,290...127,294,166
Ensembl chr 2:127,257,290...127,294,166
JBrowse link
G GSTM1 glutathione S-transferase mu 1 severity IAGP DNA:deletion, haplotype:: (human) RGD PMID:21058530 RGD:12792218 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
JBrowse link
G HTRA2 HtrA serine peptidase 2 treatment ISO protein:increased expression:kidney: RGD PMID:20704803 RGD:10402931 NCBI chr 2:74,529,405...74,533,556
Ensembl chr 2:74,529,725...74,533,332
JBrowse link
G MAP2 microtubule associated protein 2 ISO RGD PMID:21858873 RGD:6483085 NCBI chr 2:209,424,047...209,734,118
Ensembl chr 2:209,424,047...209,734,118
JBrowse link
G PDIA3 protein disulfide isomerase family A member 3 ISO protein:increased expression:hippocampus: RGD PMID:15453273 RGD:9999183 NCBI chr15:43,746,438...43,773,278
Ensembl chr15:43,746,410...43,773,278
JBrowse link
G PSEN1 presenilin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963755 NCBI chr14:73,136,436...73,223,691
Ensembl chr14:73,136,418...73,223,691
JBrowse link
G PSEN2 presenilin 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963755 NCBI chr 1:226,870,594...226,903,829
Ensembl chr 1:226,870,184...226,927,726
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963755 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
JBrowse link
G S100B S100 calcium binding protein B IEP protein:increased expression:urine RGD PMID:14707571 RGD:5508819 NCBI chr21:46,598,604...46,605,243
Ensembl chr21:46,598,604...46,605,208
JBrowse link
G SOD1 superoxide dismutase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963755 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931
JBrowse link
G SOD2 superoxide dismutase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963755 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
G XRCC1 X-ray repair cross complementing 1 ISO mRNA:increased expression:brain RGD PMID:9763211 RGD:2302855 NCBI chr19:43,543,311...43,575,527
Ensembl chr19:43,543,311...43,580,473
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 chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO mRNA:increased expression:lung (rat) RGD PMID:20810760 RGD:4145365 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
JBrowse link
G INHBB inhibin subunit beta B ISO mRNA:increased expression:kidney (rat) RGD PMID:15808645 RGD:9743920 NCBI chr 2:120,346,136...120,351,803
Ensembl chr 2:120,346,136...120,351,803
JBrowse link
G MAP2K4 mitogen-activated protein kinase kinase 4 ISO RGD PMID:23157661 RGD:7495829 NCBI chr17:12,020,822...12,143,828
Ensembl chr17:12,020,829...12,143,830
JBrowse link
G MAP2K6 mitogen-activated protein kinase kinase 6 ISO RGD PMID:23157661 RGD:7495829 NCBI chr17:69,414,697...69,553,865
Ensembl chr17:69,414,697...69,553,865
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 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr11:67,364,168...67,374,177
Ensembl chr11:67,364,168...67,374,177
JBrowse link
G CRLF1 cytokine receptor like factor 1 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr19:18,593,237...18,606,799
Ensembl chr19:18,572,220...18,607,741
JBrowse link
G KLHL7 kelch like family member 7 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:23,105,785...23,177,914
Ensembl chr 7:23,105,758...23,177,914
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 IAGP ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 OMIM
ClinVar
PMID:8723066 PMID:12509788 PMID:17436251 PMID:17436252 PMID:19012339 More... NCBI chr19:18,593,237...18,606,799
Ensembl chr19:18,572,220...18,607,741
JBrowse link
G KLHL7 kelch like family member 7 IAGP ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 ClinVar PMID:25741868 PMID:27392078 NCBI chr 7:23,105,785...23,177,914
Ensembl chr 7:23,105,758...23,177,914
JBrowse link
G LOC112543470 Sharpr-MPRA regulatory region 11645 IAGP ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 ClinVar PMID:19012339 NCBI chr19:18,596,719...18,597,013 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 IAGP ClinVar Annotator: match by term: Cold-induced sweating syndrome 2 OMIM
ClinVar
PMID:16782820 PMID:20400119 PMID:25741868 NCBI chr11:67,364,168...67,374,177
Ensembl chr11:67,364,168...67,374,177
JBrowse link
G LOC100130987 uncharacterized LOC100130987 IAGP ClinVar Annotator: match by term: Cold-induced sweating syndrome 2 ClinVar PMID:16782820 PMID:20400119 PMID:25741868 NCBI chr11:67,317,839...67,391,687 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 IAGP 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 7:23,105,785...23,177,914
Ensembl chr 7:23,105,758...23,177,914
JBrowse link
Embryo Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CXCL12 C-X-C motif chemokine ligand 12 ISO associated with Diabetes Mellitus, Insulin-Dependent RGD PMID:18384776 RGD:2306554 NCBI chr10:44,292,088...44,385,097
Ensembl chr10:44,370,165...44,386,493
JBrowse link
G GPX4 glutathione peroxidase 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12566075 NCBI chr19:1,103,994...1,106,779
Ensembl chr19:1,103,926...1,106,791
JBrowse link
G GRK2 G protein-coupled receptor kinase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17008600 NCBI chr11:67,266,420...67,286,556
Ensembl chr11:67,266,473...67,286,556
JBrowse link
G IGF2 insulin like growth factor 2 ISO DNA:methylation: : RGD PMID:18778817 RGD:5509951 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,141,238
JBrowse link
G IL18 interleukin 18 ISO RGD PMID:21920610 RGD:8655947 NCBI chr11:112,143,251...112,164,104
Ensembl chr11:112,143,253...112,164,096
JBrowse link
G LCMT1 leucine carboxyl methyltransferase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17724024 NCBI chr16:25,111,702...25,178,231
Ensembl chr16:25,111,731...25,178,231
JBrowse link
G LIF LIF interleukin 6 family cytokine EXP CTD Direct Evidence: marker/mechanism CTD PMID:23409146 NCBI chr22:30,240,453...30,257,487
Ensembl chr22:30,240,453...30,246,759
JBrowse link
G NLRP5 NLR family pyrin domain containing 5 IAGP ClinVar Annotator: match by term: Preimplantation embryonic lethality ClinVar NCBI chr19:55,999,726...56,061,810
Ensembl chr19:55,999,726...56,061,810
JBrowse link
G PARG poly(ADP-ribose) glycohydrolase EXP CTD Direct Evidence: marker/mechanism CTD PMID:15591342 NCBI chr10:49,818,279...49,942,027
Ensembl chr10:49,818,279...49,970,203
JBrowse link
G SLC31A1 solute carrier family 31 member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11391004 NCBI chr 9:113,221,544...113,264,492
Ensembl chr 9:113,221,544...113,264,492
JBrowse link
G UBE2N ubiquitin conjugating enzyme E2 N EXP CTD Direct Evidence: marker/mechanism CTD PMID:16738225 NCBI chr12:93,405,684...93,442,336
Ensembl chr12:93,405,673...93,441,947
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:31913406 NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988
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 IAGP DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:11085286 RGD:11038921 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G ATR ATR serine/threonine kinase ISO RGD PMID:15282542 RGD:150340675 NCBI chr 3:142,449,235...142,578,793
Ensembl chr 3:142,449,007...142,578,733
JBrowse link
G CDK8 cyclin dependent kinase 8 IAGP ClinVar Annotator: match by term: Fetal death ClinVar PMID:25741868 NCBI chr13:26,254,125...26,405,238
Ensembl chr13:26,254,104...26,405,238
JBrowse link
G F5 coagulation factor V no_association IAGP RGD PMID:14706682 RGD:1580130 NCBI chr 1:169,511,951...169,586,630
Ensembl chr 1:169,511,951...169,586,588
JBrowse link
G GRHL3 grainyhead like transcription factor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:6635991 NCBI chr 1:24,319,333...24,364,482
Ensembl chr 1:24,319,357...24,364,482
JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO RGD PMID:20393889 RGD:12910472 NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737
JBrowse link
G LPAR1 lysophosphatidic acid receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11087877 NCBI chr 9:110,873,252...111,038,998
Ensembl chr 9:110,873,263...111,038,470
JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29255069 NCBI chr 2:177,230,303...177,265,131
Ensembl chr 2:177,227,595...177,392,697
JBrowse link
G OXT oxytocin/neurophysin I prepropeptide EXP CTD Direct Evidence: marker/mechanism CTD PMID:5067144 NCBI chr20:3,068,871...3,072,517
Ensembl chr20:3,071,620...3,072,517
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:11023856 NCBI chr 4:54,229,127...54,298,245
Ensembl chr 4:54,229,280...54,298,245
JBrowse link
G RDH10 retinol dehydrogenase 10 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27793605 NCBI chr 8:73,294,602...73,325,281
Ensembl chr 8:73,294,602...73,325,281
JBrowse link
G TFPI tissue factor pathway inhibitor ISO associated with Hemorrhage; RGD PMID:9242522 RGD:11060259 NCBI chr 2:187,464,230...187,554,501
Ensembl chr 2:187,464,230...187,565,760
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B IMP associated with Endotoxemia; human protein in rat model RGD PMID:21187445 RGD:5131261 NCBI chr 1:12,166,948...12,209,222
Ensembl chr 1:12,166,991...12,209,228
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 chr17:66,212,033...66,229,415
Ensembl chr17:66,212,033...66,256,525
JBrowse link
G CGB3 chorionic gonadotropin subunit beta 3 EXP CTD Direct Evidence: therapeutic CTD PMID:3816235 NCBI chr19:49,022,869...49,024,333
Ensembl chr19:49,022,869...49,024,333
JBrowse link
G PRL prolactin EXP CTD Direct Evidence: therapeutic CTD PMID:3816235 NCBI chr 6:22,287,246...22,302,897
Ensembl chr 6:22,287,244...22,302,826
JBrowse link
Infant Death term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANK2 ankyrin 2 IAGP ClinVar Annotator: match by term: Death in infancy ClinVar PMID:15075330 PMID:15178757 PMID:16253912 PMID:18782775 PMID:22581653 More... NCBI chr 4:112,705,622...113,383,736
Ensembl chr 4:112,818,032...113,384,221
JBrowse link
G GPD1L glycerol-3-phosphate dehydrogenase 1 like IAGP ClinVar Annotator: match by term: Death in infancy ClinVar PMID:11839626 PMID:17967977 PMID:19666841 PMID:19745168 PMID:20724705 More... NCBI chr 3:32,106,620...32,168,715
Ensembl chr 3:32,105,689...32,168,709
JBrowse link
G MYL2 myosin light chain 2 IAGP ClinVar Annotator: match by term: Death in infancy ClinVar PMID:8673105 PMID:11102452 PMID:11748309 PMID:12668451 PMID:14594949 More... NCBI chr12:110,910,845...110,920,579
Ensembl chr12:110,910,819...110,921,443
JBrowse link
G RYR2 ryanodine receptor 2 IAGP ClinVar Annotator: match by term: Death in infancy ClinVar PMID:19926015 PMID:20157052 PMID:22374134 PMID:22515980 PMID:22677073 More... NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988
JBrowse link
G SCN3B sodium voltage-gated channel beta subunit 3 IAGP ClinVar Annotator: match by term: Death in infancy ClinVar PMID:23257389 PMID:23861362 PMID:24033266 PMID:25741868 PMID:27435932 More... NCBI chr11:123,629,187...123,654,624
Ensembl chr11:123,629,187...123,655,244
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP ClinVar Annotator: match by term: Death in infancy ClinVar PMID:11901046 PMID:11997281 PMID:14753626 PMID:14760488 PMID:15840476 More... NCBI chr 3:38,548,061...38,649,687
Ensembl chr 3:38,548,057...38,649,687
JBrowse link
G SMN1 survival of motor neuron 1, telomeric EXP CTD Direct Evidence: marker/mechanism CTD PMID:27111068 NCBI chr 5:70,924,941...70,953,015
Ensembl chr 5:70,925,030...70,953,942
Ensembl chr 5:70,925,030...70,953,942
JBrowse link
G TRPM7 transient receptor potential cation channel subfamily M member 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30770447 NCBI chr15:50,557,158...50,686,797
Ensembl chr15:50,552,473...50,686,797
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 IAGP DNA:deletion:: (human) RGD PMID:21058530 RGD:12792218
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 chr13:77,895,481...77,975,527
Ensembl chr13:77,895,481...77,975,529
JBrowse link
G FAM20C FAM20C golgi associated secretory pathway kinase IAGP ClinVar Annotator: match by term: Neonatal death ClinVar PMID:25558065 NCBI chr 7:192,571...260,772
Ensembl chr 7:192,571...260,772
JBrowse link
G FANCD2 FA complementation group D2 ISO RGD PMID:12893777 RGD:11344906 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932
JBrowse link
G FBN2 fibrillin 2 IAGP ClinVar Annotator: match by term: Neonatal death ClinVar PMID:25558065 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185
JBrowse link
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28242822 NCBI chr10:76,869,602...77,637,969
Ensembl chr10:76,869,601...77,638,369
JBrowse link
G LAMC3 laminin subunit gamma 3 IAGP ClinVar Annotator: match by term: Neonatal death ClinVar PMID:25741868 NCBI chr 9:131,009,174...131,094,473
Ensembl chr 9:131,009,174...131,094,473
JBrowse link
G MT-TV mitochondrially encoded tRNA-Val (GUN) IAGP ClinVar Annotator: match by term: Neonatal death ClinVar PMID:11799391 PMID:17886296 PMID:18400783 PMID:25652200 PMID:31965079 NCBI chr MT:1,602...1,670
Ensembl chr MT:1,602...1,670
JBrowse link
G POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) IAGP ClinVar Annotator: match by term: Neonatal death ClinVar PMID:22958903 PMID:25558065 NCBI chr 3:43,079,229...43,106,085
Ensembl chr 3:43,079,232...43,106,079
JBrowse link
G SPDL1 spindle apparatus coiled-coil protein 1 IAGP ClinVar Annotator: match by term: Neonatal death ClinVar PMID:25558065 NCBI chr 5:169,583,661...169,604,778
Ensembl chr 5:169,583,636...169,604,778
JBrowse link
G WDR81 WD repeat domain 81 IAGP ClinVar Annotator: match by term: Neonatal death ClinVar PMID:25558065 PMID:25741868 PMID:28556411 NCBI chr17:1,716,523...1,738,585
Ensembl chr17:1,716,523...1,738,599
JBrowse link
Preimplantation Embryonic Lethality 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TLE6 TLE family member 6, subcortical maternal complex member IAGP ClinVar Annotator: match by term: Preimplantation embryonic lethality 1 ClinVar
OMIM
PMID:25741868 PMID:26537248 NCBI chr19:2,977,410...2,995,184
Ensembl chr19:2,977,538...2,995,179
JBrowse link
Preimplantation Embryonic Lethality 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PADI6 peptidyl arginine deiminase 6 IAGP ClinVar Annotator: match by term: Preimplantation embryonic lethality 2 ClinVar
OMIM
PMID:27545678 NCBI chr 1:17,372,196...17,401,699
Ensembl chr 1:17,372,196...17,401,699
JBrowse link
Stillbirth term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDK8 cyclin dependent kinase 8 IAGP ClinVar Annotator: match by term: Stillbirth ClinVar PMID:25741868 NCBI chr13:26,254,125...26,405,238
Ensembl chr13:26,254,104...26,405,238
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 IAGP RGD PMID:22661490 RGD:13831296 NCBI chr 2:222,861,036...222,944,639
Ensembl chr 2:222,860,942...222,944,639
JBrowse link
G ADRA2B adrenoceptor alpha 2B IAGP RGD PMID:12535806 RGD:1559314 NCBI chr 2:96,112,876...96,116,571
Ensembl chr 2:96,112,876...96,116,571
JBrowse link
G AKAP9 A-kinase anchoring protein 9 IAGP ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr 7:91,940,862...92,110,673
Ensembl chr 7:91,940,840...92,110,673
JBrowse link
G ANK2 ankyrin 2 IAGP 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 4:112,705,622...113,383,736
Ensembl chr 4:112,818,032...113,384,221
JBrowse link
G APOB apolipoprotein B IEP RGD PMID:17045270 RGD:1601197 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C IAGP ClinVar Annotator: match by term: Sudden cardiac death ClinVar NCBI chr12:1,969,552...2,697,950
Ensembl chr12:1,970,772...2,697,950
JBrowse link
G CACNA1C-AS1 CACNA1C antisense RNA 1 IAGP ClinVar Annotator: match by term: Sudden cardiac death ClinVar NCBI chr12:2,676,001...2,691,157
Ensembl chr12:2,676,001...2,691,200
JBrowse link
G CEP85L centrosomal protein 85 like IAGP ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:12639993 PMID:16235537 PMID:17655857 PMID:21167350 PMID:21332051 More... NCBI chr 6:118,460,772...118,710,101
Ensembl chr 6:118,460,772...118,710,075
JBrowse link
G DPP6 dipeptidyl peptidase like 6 IAGP ClinVar Annotator: match by term: Sudden cardiac death ClinVar NCBI chr 7:153,748,133...154,894,285
Ensembl chr 7:153,887,097...154,894,285
JBrowse link
G DSG2 desmoglein 2 IAGP ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:25741868 NCBI chr18:31,498,177...31,549,008
Ensembl chr18:31,498,177...31,549,008
JBrowse link
G DSG2-AS1 DSG2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:25741868 NCBI chr18:31,542,146...31,556,911
Ensembl chr18:31,542,146...31,556,948
JBrowse link
G DSP desmoplakin EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sudden cardiac death
CTD
ClinVar
PMID:20435227 PMID:25741868 NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,617...7,586,714
JBrowse link
G GJA1 gap junction protein alpha 1 treatment ISO RGD PMID:22093512 RGD:12910124 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
JBrowse link
G GPD1L glycerol-3-phosphate dehydrogenase 1 like IAGP ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:23861362 PMID:27930701 PMID:28166811 PMID:28492532 NCBI chr 3:32,106,620...32,168,715
Ensembl chr 3:32,105,689...32,168,709
JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 IAGP ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:21615589 PMID:23623143 PMID:23861362 PMID:24033266 PMID:24569893 More... NCBI chr15:73,319,859...73,368,958
Ensembl chr15:73,319,859...73,368,958
JBrowse link
G IL6 interleukin 6 susceptibility IEP RGD PMID:23906927 RGD:12792237 NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G ITGB3 integrin subunit beta 3 IAGP associated with arteriosclerosis; DNA:polymorphism:exon RGD PMID:20846430 RGD:5128476 NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743
JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 IAGP 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 7:150,944,956...150,978,321
Ensembl chr 7:150,944,961...150,978,321
JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 IAGP ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:25741868 NCBI chr11:2,445,008...2,849,110
Ensembl chr11:2,444,684...2,849,105
JBrowse link
G KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 IAGP ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:25741868 NCBI chr11:2,608,328...2,699,998
Ensembl chr11:2,608,328...2,699,994
JBrowse link
G KNG1 kininogen 1 susceptibility IAGP DNA:SNPs: : RGD PMID:19716087 RGD:10411885 NCBI chr 3:186,717,359...186,744,410
Ensembl chr 3:186,717,348...186,744,410
JBrowse link
G LMNA lamin A/C EXP CTD Direct Evidence: marker/mechanism CTD PMID:15996213 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081
JBrowse link
G LOC110121269 VISTA enhancer hs2177 IAGP ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:16712702 PMID:19841300 PMID:22581653 PMID:24033266 PMID:24055113 More... NCBI chr 3:38,578,362...38,581,496 JBrowse link
G MT-TT mitochondrially encoded tRNA-Thr (ACN) IAGP ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:1379415 PMID:1645537 PMID:8511015 PMID:22638997 PMID:25741868 More... NCBI chr MT:15,888...15,953
Ensembl chr MT:15,888...15,953
JBrowse link
G MYBPC3 myosin binding protein C3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20435227 NCBI chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702
JBrowse link
G MYH6 myosin heavy chain 6 IAGP ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:15998695 PMID:20215591 PMID:22194935 PMID:22361390 PMID:23299917 More... NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273
JBrowse link
G MYH7 myosin heavy chain 7 IAGP ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:25741868 NCBI chr14:23,412,740...23,435,677
Ensembl chr14:23,412,740...23,435,660
JBrowse link
G MYOM1 myomesin 1 IAGP ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:24033266 PMID:28492532 NCBI chr18:3,066,807...3,220,108
Ensembl chr18:3,066,807...3,219,968
JBrowse link
G NEBL nebulette IAGP ClinVar Annotator: match by term: Sudden cardiac death ClinVar NCBI chr10:20,779,973...21,293,050
Ensembl chr10:20,779,973...21,293,011
JBrowse link
G PKP2 plakophilin 2 IAGP ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:25741868 PMID:27532257 PMID:28492532 NCBI chr12:32,790,755...32,896,777
Ensembl chr12:32,790,755...32,896,777
JBrowse link
G PLN phospholamban IAGP ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:12639993 PMID:16235537 PMID:17655857 PMID:21167350 PMID:21332051 More... NCBI chr 6:118,548,296...118,561,716
Ensembl chr 6:118,548,296...118,561,716
JBrowse link
G RYR2 ryanodine receptor 2 IAGP
EXP
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 chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988
JBrowse link
G SCN3B sodium voltage-gated channel beta subunit 3 IAGP ClinVar Annotator: match by term: Sudden cardiac death ClinVar NCBI chr11:123,629,187...123,654,624
Ensembl chr11:123,629,187...123,655,244
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP 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 3:38,548,061...38,649,687
Ensembl chr 3:38,548,057...38,649,687
JBrowse link
G SP4 Sp4 transcription factor ISO RGD PMID:11007485 RGD:1580019 NCBI chr 7:21,428,083...21,514,822
Ensembl chr 7:21,428,043...21,514,822
JBrowse link
G TMEM43 transmembrane protein 43 EXP
IAGP
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 3:14,125,006...14,143,680
Ensembl chr 3:14,125,015...14,143,680
JBrowse link
G TNNI3 troponin I3, cardiac type IAGP ClinVar Annotator: match by term: Sudden cardiac arrest ClinVar PMID:21839045 PMID:25741868 NCBI chr19:55,151,767...55,157,732
Ensembl chr19:55,151,767...55,157,773
JBrowse link
G TNNT2 troponin T2, cardiac type EXP
IAGP
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 1:201,359,014...201,377,828
Ensembl chr 1:201,359,008...201,377,764
JBrowse link
G TRPM4 transient receptor potential cation channel subfamily M member 4 IAGP ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:24019741 PMID:28492532 NCBI chr19:49,157,792...49,211,841
Ensembl chr19:49,157,741...49,211,836
JBrowse link
G TTN titin IAGP 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 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802
JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: Sudden cardiac arrest ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963
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 IAGP ClinVar Annotator: match by term: Sudden cardiac failure, infantile ClinVar
OMIM
PMID:24033266 PMID:25741868 PMID:27523597 PMID:27523598 PMID:28492532 More... NCBI chr 4:105,369,077...105,474,070
Ensembl chr 4:105,369,077...105,474,067
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15331425 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G AGT angiotensinogen EXP CTD Direct Evidence: marker/mechanism CTD PMID:17502491 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576
JBrowse link
G ANXA5 annexin A5 no_association IAGP DNA:polymorphism: :-1C>T (human) RGD PMID:16025836 RGD:1578384 NCBI chr 4:121,667,946...121,696,994
Ensembl chr 4:121,667,946...121,696,995
JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C IAGP ClinVar Annotator: match by term: Sudden unexplained death ClinVar PMID:25741868 PMID:28492532 NCBI chr12:1,969,552...2,697,950
Ensembl chr12:1,970,772...2,697,950
JBrowse link
G CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 IAGP ClinVar Annotator: match by term: Sudden unexplained death ClinVar PMID:20817017 PMID:24033266 PMID:25637381 PMID:25741868 PMID:28492532 NCBI chr10:18,140,424...18,545,881
Ensembl chr10:18,140,424...18,543,557
JBrowse link
G CASQ2 calsequestrin 2 IAGP ClinVar Annotator: match by term: Sudden unexplained death ClinVar PMID:12034872 PMID:18543230 PMID:21063088 PMID:21454795 PMID:22421959 More... NCBI chr 1:115,700,021...115,768,714
Ensembl chr 1:115,700,021...115,768,714
JBrowse link
G CSRP3 cysteine and glycine rich protein 3 IAGP ClinVar Annotator: match by term: Sudden unexplained death ClinVar PMID:9039266 PMID:12507422 PMID:14567970 PMID:15781201 PMID:16352453 More... NCBI chr11:19,182,030...19,201,983
Ensembl chr11:19,182,030...19,210,571
JBrowse link
G DSP desmoplakin IAGP 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 chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,617...7,586,714
JBrowse link
G GLA galactosidase alpha IAGP ClinVar Annotator: match by term: Sudden unexplained death ClinVar PMID:7504405 PMID:9452111 PMID:11668641 PMID:11914245 PMID:14635108 More... NCBI chr  X:101,397,803...101,407,925
Ensembl chr  X:101,393,273...101,408,012
JBrowse link
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 IAGP ClinVar Annotator: match by term: Sudden unexplained death ClinVar PMID:9328483 PMID:9354783 PMID:9354802 PMID:9445165 PMID:10400998 More... NCBI chr21:34,446,688...34,512,210
Ensembl chr21:34,446,688...34,512,214
JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 IAGP ClinVar Annotator: match by term: Sudden unexplained death ClinVar PMID:11468227 PMID:12775564 PMID:14661677 PMID:14975928 PMID:15522280 More... NCBI chr 7:150,944,956...150,978,321
Ensembl chr 7:150,944,961...150,978,321
JBrowse link
G LMNA lamin A/C IAGP ClinVar Annotator: match by term: Sudden unexplained death ClinVar PMID:8619549 PMID:9106535 PMID:10814726 PMID:12628721 PMID:12673789 More... NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081
JBrowse link
G MAP2K5 mitogen-activated protein kinase kinase 5 ISO RGD PMID:11387209 RGD:1580866 NCBI chr15:67,542,685...67,807,114
Ensembl chr15:67,542,703...67,807,117
JBrowse link
G MHRT myosin heavy chain associated RNA transcript IAGP ClinVar Annotator: match by term: Sudden unexplained death ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr14:23,415,450...23,417,595 JBrowse link
G MT-TE mitochondrially encoded tRNA-Glu (GAA/G) IAGP ClinVar Annotator: match by term: Sudden death ClinVar PMID:28027978 PMID:31965079 NCBI chr MT:14,674...14,742
Ensembl chr MT:14,674...14,742
JBrowse link
G MT-TG mitochondrially encoded tRNA-Gly (GGN) IAGP ClinVar Annotator: match by term: Sudden death ClinVar PMID:8888049 PMID:12621050 PMID:31965079 NCBI chr MT:9,991...10,058
Ensembl chr MT:9,991...10,058
JBrowse link
G MYBPC3 myosin binding protein C3 IAGP ClinVar Annotator: match by term: Sudden unexplained death ClinVar NCBI chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702
JBrowse link
G MYH7 myosin heavy chain 7 IAGP ClinVar Annotator: match by term: Sudden unexplained death ClinVar PMID:15358028 PMID:15856146 PMID:16335287 PMID:19808356 PMID:19913502 More... NCBI chr14:23,412,740...23,435,677
Ensembl chr14:23,412,740...23,435,660
JBrowse link
G MYLK2 myosin light chain kinase 2 IAGP ClinVar Annotator: match by term: Sudden unexplained death ClinVar PMID:25741868 PMID:28492532 NCBI chr20:31,819,356...31,834,684
Ensembl chr20:31,819,308...31,834,689
JBrowse link
G MYPN myopalladin IAGP ClinVar Annotator: match by term: Sudden unexplained death ClinVar PMID:25741868 PMID:28492532 NCBI chr10:68,087,907...68,212,017
Ensembl chr10:68,106,117...68,212,017
JBrowse link
G NEBL nebulette IAGP ClinVar Annotator: match by term: Sudden unexplained death ClinVar PMID:25741868 PMID:28492532 NCBI chr10:20,779,973...21,293,050
Ensembl chr10:20,779,973...21,293,011
JBrowse link
G NRAP nebulin related anchoring protein IAGP ClinVar Annotator: match by term: Sudden unexplained death ClinVar NCBI chr10:113,588,714...113,664,046
Ensembl chr10:113,588,714...113,664,070
JBrowse link
G NSUN6 NOP2/Sun RNA methyltransferase 6 IAGP ClinVar Annotator: match by term: Sudden unexplained death ClinVar PMID:25741868 NCBI chr10:18,512,582...18,659,264
Ensembl chr10:18,545,561...18,659,285
JBrowse link
G OTC ornithine transcarbamylase IAGP death due to neonatal-onset hyperammonaemic encephalopathy RGD PMID:17262046 RGD:1601074 NCBI chr  X:38,352,528...38,421,446
Ensembl chr  X:38,352,586...38,421,446
JBrowse link
G PKP2 plakophilin 2 IAGP ClinVar Annotator: match by term: Sudden unexplained death ClinVar PMID:15489853 PMID:20400443 PMID:23911551 PMID:25741868 PMID:27532257 More... NCBI chr12:32,790,755...32,896,777
Ensembl chr12:32,790,755...32,896,777
JBrowse link
G RPL36A-HNRNPH2 RPL36A-HNRNPH2 readthrough IAGP ClinVar Annotator: match by term: Sudden unexplained death ClinVar PMID:7504405 PMID:9452111 PMID:11668641 PMID:11914245 PMID:14635108 More... NCBI chr  X:101,391,011...101,414,133
Ensembl chr  X:101,391,011...101,412,297
JBrowse link
G RYR2 ryanodine receptor 2 TAS
IAGP
ClinVar Annotator: match by term: Sudden unexplained death
ClinVar Annotator: match by term: Sudden death
ClinVar
RGD
PMID:23861362 PMID:24033266 PMID:25650408 PMID:25741868 PMID:26656175 More... RGD:1578810 NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP ClinVar Annotator: match by term: Sudden unexplained death ClinVar PMID:17210839 PMID:17210841 PMID:20129283 PMID:22581653 PMID:24033266 More... NCBI chr 3:38,548,061...38,649,687
Ensembl chr 3:38,548,057...38,649,687
JBrowse link
G TGFB3 transforming growth factor beta 3 TAS RGD PMID:7951245 RGD:1578811 NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011
JBrowse link
G TRPM4 transient receptor potential cation channel subfamily M member 4 IAGP
EXP
ClinVar Annotator: match by term: Sudden unexplained death
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868 PMID:30391667 NCBI chr19:49,157,792...49,211,841
Ensembl chr19:49,157,741...49,211,836
JBrowse link
sudden infant death syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHRNA7 cholinergic receptor nicotinic alpha 7 subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:22000980 NCBI chr15:32,030,462...32,173,018
Ensembl chr15:31,923,438...32,173,018
JBrowse link
G CHRNB2 cholinergic receptor nicotinic beta 2 subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:22000980 NCBI chr 1:154,567,778...154,584,708
Ensembl chr 1:154,567,778...154,580,013
JBrowse link
G GPD1L glycerol-3-phosphate dehydrogenase 1 like IAGP ClinVar Annotator: match by term: Sudden infant death syndrome ClinVar PMID:15140536 PMID:17967976 PMID:19606473 PMID:19815826 PMID:22995991 More... NCBI chr 3:32,106,620...32,168,715
Ensembl chr 3:32,105,689...32,168,709
JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 IAGP 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 7:150,944,956...150,978,321
Ensembl chr 7:150,944,961...150,978,321
JBrowse link
G KCNJ8 potassium inwardly rectifying channel subfamily J member 8 IAGP ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME ClinVar PMID:28492532 NCBI chr12:21,764,955...21,775,593
Ensembl chr12:21,764,955...21,775,600
JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 IAGP 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 chr11:2,445,008...2,849,110
Ensembl chr11:2,444,684...2,849,105
JBrowse link
G LOC110121269 VISTA enhancer hs2177 IAGP ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME
ClinVar Annotator: match by term: Sudden Infant Death
ClinVar PMID:11710892 PMID:12193783 PMID:12471205 PMID:14500339 PMID:15161528 More... NCBI chr 3:38,578,362...38,581,496 JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP 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:3,307...4,262
Ensembl chr MT:3,307...4,262
JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME ClinVar PMID:10519336 PMID:31965079 NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304
JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22155597 NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449
JBrowse link
G SCN4B sodium voltage-gated channel beta subunit 4 IAGP ClinVar Annotator: match by term: Sudden infant death syndrome ClinVar PMID:20226894 PMID:25741868 PMID:28492532 NCBI chr11:118,133,377...118,152,823
Ensembl chr11:118,133,377...118,152,888
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 susceptibility IAGP
EXP
ClinVar Annotator: match by term: Sudden infant death syndrome
ClinVar Annotator: match by term: Sudden Infant Death
ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:11710892 PMID:12193783 PMID:12471205 PMID:14500339 PMID:15161528 More... NCBI chr 3:38,548,061...38,649,687
Ensembl chr 3:38,548,057...38,649,687
JBrowse link
G SLC6A4 solute carrier family 6 member 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12599191 NCBI chr17:30,194,319...30,235,697
Ensembl chr17:30,194,319...30,236,002
JBrowse link
G SNTA1 syntrophin alpha 1 susceptibility IAGP DNA:missense mutations:cds:multiple RGD PMID:20009079 RGD:6771369 NCBI chr20:33,407,957...33,443,853
Ensembl chr20:33,407,957...33,443,763
JBrowse link
G TSPYL1 TSPY like 1 IAGP sudden infant death with dysgenesis of the testes syndrome (SIDDT), OMIM:608800 RGD PMID:15273283 RGD:1599672 NCBI chr 6:116,274,858...116,279,930
Ensembl chr 6:116,267,760...116,279,930
JBrowse link
G VEGFA vascular endothelial growth factor A IEP protein:increased expression:cerebrospinal fluid RGD PMID:12563064 RGD:634255 NCBI chr 6:43,770,209...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISS OMIM:272120 MouseDO NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,667
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 IAGP ClinVar Annotator: match by term: Sudden infant death with dysgenesis of the testes syndrome ClinVar PMID:25741868 NCBI chr 6:116,254,171...116,444,861
Ensembl chr 6:116,254,173...116,444,861
JBrowse link
G TSPYL1 TSPY like 1 IAGP ClinVar Annotator: match by term: Sudden infant death with dysgenesis of the testes syndrome ClinVar
OMIM
PMID:15273283 PMID:25741868 NCBI chr 6:116,274,858...116,279,930
Ensembl chr 6:116,267,760...116,279,930
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20297
    Pathological Conditions, Signs and Symptoms 11470
      Pathologic Processes 7509
        Death 150
          Asphyxia + 19
          Body Remains 0
          Brain Death 5
          Cadaver + 0
          Drowning + 0
          Embryo Loss + 13
          Fetal Death + 16
          Infant Death + 24
          Parental Death + 0
          Perinatal Death 10
          Sudden Death + 79
paths to the root