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
Accession: DOID:9007
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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Gpd1l
glycerol-3-phosphate dehydrogenase 1 like
ISO
ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME
ClinVar
PMID:15140536 PMID:17967976 PMID:19606473 PMID:19815826 PMID:22995991 PMID:23465283 PMID:23861362 PMID:24033266 PMID:24055113 PMID:24715918 PMID:25741868 PMID:25998140 PMID:28492532 PMID:28837624 More...
NCBI chr 8:114,591,103...114,620,771
Ensembl chr 8:114,588,487...114,620,723
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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
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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 PMID:20674198 PMID:21215473 PMID:22581653 PMID:22995991 PMID:23304551 PMID:24223155 PMID:25417810 PMID:25741868 PMID:26129877 PMID:26332594 PMID:27026747 PMID:27930701 PMID:28492532 PMID:29752375 PMID:30369311 PMID:31696929 More...
NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008
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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
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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
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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 PMID:17999538 PMID:18222468 PMID:18596570 PMID:18611041 PMID:19490272 PMID:19716085 PMID:19815527 PMID:21185501 PMID:21215473 PMID:21778721 PMID:22581653 PMID:22677073 PMID:23304551 PMID:23465283 PMID:24033266 PMID:24920132 PMID:25637381 PMID:25741868 PMID:26066609 PMID:26332594 PMID:27884173 PMID:28492532 PMID:29197658 PMID:30302399 PMID:30615648 PMID:31043699 PMID:31337358 PMID:31737537 More...
NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669
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Mt-nd1
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
ISO
ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME
ClinVar
PMID:9299504 PMID:9806551 PMID:10519336 PMID:10521313 PMID:12160969 PMID:13298683 PMID:15972314 PMID:24146900 PMID:26467025 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
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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 PMID:15519027 PMID:21959974 PMID:24033266 PMID:24510615 PMID:24793961 PMID:25741868 PMID:26914223 PMID:27532257 PMID:28492532 PMID:29121657 PMID:29758562 PMID:30165862 PMID:31028938 PMID:35027292 PMID:35581137 More...
NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405
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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
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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 PMID:28492532 PMID:28639102 More...
NCBI chr X:34,700,481...34,714,309
Ensembl chr X:34,700,409...34,714,311
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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
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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
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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
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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 PMID:30821358 PMID:31043699 More...
NCBI chr 8:45,446,580...45,462,294
Ensembl chr 8:45,446,215...45,462,292
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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 PMID:9716085 PMID:10807545 PMID:10807547 PMID:10940383 PMID:10966831 PMID:11076825 PMID:11463728 PMID:11562792 PMID:11710892 PMID:11748104 PMID:11804990 PMID:11823453 PMID:11827685 PMID:11901046 PMID:11960580 PMID:11997281 PMID:12106943 PMID:12193783 PMID:12354768 PMID:12471205 PMID:12569159 PMID:12574143 PMID:12639704 PMID:12673799 PMID:12820704 PMID:14500339 PMID:14523039 PMID:14687250 PMID:14760488 PMID:14961552 PMID:14985827 PMID:14998624 PMID:15023552 PMID:15028074 PMID:15121794 PMID:15161528 PMID:15176425 PMID:15266024 PMID:15277732 PMID:15466642 PMID:15485686 PMID:15599693 PMID:15689442 PMID:15840476 PMID:15840483 PMID:15851227 PMID:15851228 PMID:15851440 PMID:15992732 PMID:15996170 PMID:16061744 PMID:16132053 PMID:16155735 PMID:16239976 PMID:16267250 PMID:16267253 PMID:16325048 PMID:16344400 PMID:16379539 PMID:16414944 PMID:16453014 PMID:16453024 PMID:16540748 PMID:16568155 PMID:16611632 PMID:16707561 PMID:16712702 PMID:16731473 PMID:16922724 PMID:17141278 PMID:17161064 PMID:17185997 PMID:17210839 PMID:17210841 PMID:17227473 PMID:17275750 PMID:17331104 PMID:17438607 PMID:17438610 PMID:17605181 PMID:17675083 PMID:17854786 PMID:17892895 PMID:17897635 PMID:17905336 PMID:17967976 PMID:17993325 PMID:18071069 PMID:18093912 PMID:18156160 PMID:18245395 PMID:18304999 PMID:18361072 PMID:18362431 PMID:18378609 PMID:18426444 PMID:18452873 PMID:18452875 PMID:18508782 PMID:18596570 PMID:18809926 PMID:18976777 PMID:19026623 PMID:19027780 PMID:19056759 PMID:19083750 PMID:19251209 PMID:19302788 PMID:19305408 PMID:19305409 PMID:19322600 PMID:19406494 PMID:19412328 PMID:19561025 PMID:19597050 PMID:19606473 PMID:19706159 PMID:19716085 PMID:19799913 PMID:19808477 PMID:19841300 PMID:19843921 PMID:19862833 PMID:19996378 PMID:20031634 PMID:20038812 PMID:20129283 PMID:20137763 PMID:20384651 PMID:20403459 PMID:20470418 PMID:20486126 PMID:20539757 PMID:20566482 PMID:20609320 PMID:20646679 PMID:20875080 PMID:20981092 PMID:21051419 PMID:21109022 PMID:21126620 PMID:21143119 PMID:21185501 PMID:21273195 PMID:21306642 PMID:21321465 PMID:21325150 PMID:21385947 PMID:21498565 PMID:21596231 PMID:21621375 PMID:21622575 PMID:21705349 PMID:21726068 PMID:21840964 PMID:21908450 PMID:22247482 PMID:22277643 PMID:22337857 PMID:22360817 PMID:22373669 PMID:22378279 PMID:22490985 PMID:22519808 PMID:22581653 PMID:22677073 PMID:22682427 PMID:22685113 PMID:22739120 PMID:22789973 PMID:22840528 PMID:22885917 PMID:22899775 PMID:22956155 PMID:22984773 PMID:22995991 PMID:23008441 PMID:23091201 PMID:23098067 PMID:23139254 PMID:23299917 PMID:23321620 PMID:23414114 PMID:23420830 PMID:23424222 PMID:23465283 PMID:23571586 PMID:23631430 PMID:23671135 PMID:23692053 PMID:23805106 PMID:23838598 PMID:23853484 PMID:23861362 PMID:23936059 PMID:23998552 PMID:24033266 PMID:24055113 PMID:24136861 PMID:24144883 PMID:24190697 PMID:24295898 PMID:24332150 PMID:24388587 PMID:24400668 PMID:24463578 PMID:24529773 PMID:24573164 PMID:24606995 PMID:24613995 PMID:24631775 PMID:24653702 PMID:24667783 PMID:24681144 PMID:24721456 PMID:24721642 PMID:24736382 PMID:24784157 PMID:24815523 PMID:24948852 PMID:24951569 PMID:24951663 PMID:24981977 PMID:25051102 PMID:25065297 PMID:25172307 PMID:25175087 PMID:25179549 PMID:25194972 PMID:25261036 PMID:25326637 PMID:25351510 PMID:25410959 PMID:25554238 PMID:25624448 PMID:25637381 PMID:25649125 PMID:25650408 PMID:25741868 PMID:25757662 PMID:25815641 PMID:25829473 PMID:25856671 PMID:25904541 PMID:25923670 PMID:26022185 PMID:26031372 PMID:26111534 PMID:26131924 PMID:26159999 PMID:26164358 PMID:26173111 PMID:26187847 PMID:26209461 PMID:26213684 PMID:26214305 PMID:26220391 PMID:26281194 PMID:26332594 PMID:26406308 PMID:26467025 PMID:26467377 PMID:26538325 PMID:26632536 PMID:26633542 PMID:26669661 PMID:26680202 PMID:26713557 PMID:26743238 PMID:26746457 PMID:26749013 PMID:26771585 PMID:26798387 PMID:26820365 PMID:26916278 PMID:27077130 PMID:27082542 PMID:27153395 PMID:27207958 PMID:27232914 PMID:27287068 PMID:27435932 PMID:27485560 PMID:27532257 PMID:27554632 PMID:27566755 PMID:27650965 PMID:27711072 PMID:27810048 PMID:27816319 PMID:27930701 PMID:28069705 PMID:28074886 PMID:28086167 PMID:28087566 PMID:28087622 PMID:28150151 PMID:28152038 PMID:28265756 PMID:28301460 PMID:28323875 PMID:28341588 PMID:28341781 PMID:28370132 PMID:28412158 PMID:28438721 PMID:28449774 PMID:28472724 PMID:28491758 PMID:28492532 PMID:28493952 PMID:28498465 PMID:28600387 PMID:28638671 PMID:28781330 PMID:28790152 PMID:28834665 PMID:28878402 PMID:28988457 PMID:29032884 PMID:29033053 PMID:29038103 PMID:29062695 PMID:29132927 PMID:29167113 PMID:29202755 PMID:29247119 PMID:29396561 PMID:29431662 PMID:29447731 PMID:29449639 PMID:29517769 PMID:29540853 PMID:29544605 PMID:29574140 PMID:29672598 PMID:29709101 PMID:29709244 PMID:29728395 PMID:29748316 PMID:29759671 PMID:29895855 PMID:29907895 PMID:29961767 PMID:29970176 PMID:29997009 PMID:30059973 PMID:30079003 PMID:30086531 PMID:30122538 PMID:30146492 PMID:30165862 PMID:30193851 PMID:30244407 PMID:30246897 PMID:30364184 PMID:30419068 PMID:30476647 PMID:30609406 PMID:30615648 PMID:30662450 PMID:30828412 PMID:30847666 PMID:30891416 PMID:30972196 PMID:31043699 PMID:31191357 PMID:31447099 PMID:31470130 PMID:31521807 PMID:31534214 PMID:31610692 PMID:31657683 PMID:31696929 PMID:31737537 PMID:31847883 PMID:31865383 PMID:31866066 PMID:31928070 PMID:31928344 PMID:31981491 PMID:31983221 PMID:32009526 PMID:32048431 PMID:32091595 PMID:32145446 PMID:32161207 PMID:32233023 PMID:32268277 PMID:32323320 PMID:32371921 PMID:32431610 PMID:32449611 PMID:32533946 PMID:32553838 PMID:32600061 PMID:32746448 PMID:32826072 PMID:32850980 PMID:32880476 PMID:32893267 PMID:32917565 PMID:33029862 PMID:33087929 PMID:33131149 PMID:33164571 PMID:33221895 PMID:33232181 PMID:33338828 PMID:33500567 PMID:33552729 PMID:33641026 PMID:33919104 PMID:34019817 PMID:34122134 PMID:34219138 PMID:34379075 PMID:34426522 PMID:34461752 PMID:34539730 PMID:34546463 PMID:34555931 PMID:34620408 PMID:34628415 PMID:34649698 PMID:34678660 PMID:34843967 PMID:34930020 PMID:34935411 PMID:35027292 PMID:35113648 PMID:35124229 PMID:35703482 PMID:36129056 PMID:36303204 PMID:36516610 PMID:36973604 PMID:37061847 PMID:37432518 PMID:37461109 PMID:37732247 PMID:37894777 PMID:37904629 PMID:38241367 More...
NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
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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
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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
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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
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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
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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 PMID:12746413 PMID:15607392 PMID:15961398 PMID:15992656 PMID:16020591 PMID:16288990 PMID:16531415 PMID:17027633 PMID:17463320 PMID:17599605 PMID:18269819 PMID:18408133 PMID:18409188 PMID:18423659 PMID:19035361 PMID:19289050 PMID:19449150 PMID:19651143 PMID:20031602 PMID:20161772 PMID:20800588 PMID:21239446 PMID:21310275 PMID:21533915 PMID:21839045 PMID:22301726 PMID:22675533 PMID:23283745 PMID:23906401 PMID:24033266 PMID:24111713 PMID:24474965 PMID:25132132 PMID:25440410 PMID:25611685 PMID:25741868 PMID:26169204 PMID:26741492 PMID:27532257 PMID:27557662 PMID:28382084 PMID:28492532 PMID:29176140 PMID:29661763 PMID:29907873 PMID:30279906 PMID:31912959 PMID:31983221 PMID:35027292 More...
NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580
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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
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Ttn
titin
ISO
ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME
ClinVar
PMID:17344846 PMID:22335739 PMID:23975875 PMID:24033266 PMID:25589632 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30471092 PMID:30535219 PMID:34088380 PMID:35027292 More...
NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
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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
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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
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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
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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
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all