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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:sudden infant death syndrome
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Accession:DOID:9007 term browser browse the term
Definition:A syndrome that is characterized by the sudden death of an infant that is not predicted by medical history and remains unexplained after a thorough forensic autopsy and detailed death scene investigation. (DO)
Synonyms:exact_synonym: SID;   SIDS;   cot death;   cot deaths;   crib death;   sudden death of nonspecific cause in infancy;   sudden infant death
 primary_id: MESH:D013398
 alt_id: MIM:272120
 xref: EFO:0005303;   GARD:7711;   ICD9CM:798.0;   NCI:C85173


show annotations for term's descendants           Sort by:
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:25741868 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
OMIM
ClinVar		 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 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 19057
    syndrome 11177
      sudden infant death syndrome 36
        Sudden Infant Death with Dysgenesis of the Testes Syndrome 2
Path 2
Term Annotations click to browse term
  disease 19057
    Pathological Conditions, Signs and Symptoms 13535
      Pathologic Processes 8240
        Death 173
          Infant Death 43
            sudden infant death syndrome 36
              Sudden Infant Death with Dysgenesis of the Testes Syndrome 2
paths to the root