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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 Unexpected Nocturnal Death Syndrome
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Accession:DOID:9002919 term browser browse the term
Synonyms:primary_id: MESH:C531638


show annotations for term's descendants           Sort by:
Sudden Unexpected Nocturnal Death Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:23861362 PMID:25741868 PMID:26230511 PMID:28492532 PMID:30847666 NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923 		JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:9536098 PMID:17224476 PMID:17576681 PMID:20817017 PMID:22581653 More... NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648 		JBrowse link
G Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:9536098 PMID:17576681 PMID:20817017 PMID:21383000 PMID:22840528 More... NCBI chr 4:18,950,611...19,374,969
Ensembl chr 4:18,951,002...19,374,969 		JBrowse link
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:20817017 PMID:22090166 PMID:22840528 PMID:23414114 PMID:23861362 More... NCBI chr17:77,564,630...77,910,000
Ensembl chr17:77,564,460...77,909,106 		JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome 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 Gpd1l1 glycerol-3-phosphate dehydrogenase 1 like 1 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:11839626 PMID:15140536 PMID:16199547 PMID:17967976 PMID:17967977 More... 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 unexpected nocturnal death syndrome ClinVar PMID:25741868 PMID:28341588 PMID:28492532 NCBI chr 8:59,222,206...59,259,626
Ensembl chr 8:59,221,653...59,259,639 		JBrowse link
G Hrc histidine rich calcium binding protein ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:619595 PMID:20562447 PMID:21887725 PMID:23382873 PMID:26350513 More... NCBI chr 1:95,813,262...95,816,987
Ensembl chr 1:95,813,253...95,816,984 		JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome 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 Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:19122847 PMID:19306396 PMID:23861362 PMID:25741868 PMID:28492532 More... NCBI chr 1:154,523,903...154,530,865
Ensembl chr 1:154,523,830...154,532,020 		JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:11997281 PMID:14661677 PMID:14760488 PMID:15840476 PMID:16043162 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 unexpected nocturnal death syndrome ClinVar PMID:19120683 PMID:20558321 PMID:21215473 PMID:21836131 PMID:22056721 More... NCBI chr 4:175,508,908...175,515,829
Ensembl chr 4:175,508,912...175,515,603 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:12707239 PMID:18533079 PMID:20215591 PMID:21499742 PMID:21832025 More... NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405 		JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:27789736 PMID:28492532 More... NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720 		JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:20400443 PMID:20857253 PMID:21378009 PMID:21606390 PMID:21636032 More... NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730 		JBrowse link
G Scn10a sodium voltage-gated channel alpha subunit 10 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:1309182 PMID:9536098 PMID:11527630 PMID:11901046 PMID:12097481 More... NCBI chr 8:119,350,723...119,462,882
Ensembl chr 8:119,350,724...119,462,614 		JBrowse link
G Scn3b sodium voltage-gated channel beta subunit 3 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:20031595 PMID:21051419 PMID:22284586 PMID:23257389 PMID:23414114 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: Sudden unexpected nocturnal death syndrome ClinVar PMID:2107088 PMID:2247482 PMID:2380016 PMID:2437023 PMID:3953067 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769 		JBrowse link
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:26220970 PMID:28492532 NCBI chr 3:142,876,285...142,906,737
Ensembl chr 3:142,876,296...142,906,709 		JBrowse link
G Tcap titin-cap ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:23861362 PMID:24033266 PMID:24037902 PMID:25741868 PMID:26332198 More... NCBI chr10:83,381,719...83,382,887
Ensembl chr10:83,381,719...83,382,887 		JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:619595 PMID:9536098 PMID:17576681 PMID:20562447 PMID:21887725 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 unexpected nocturnal death syndrome ClinVar PMID:17344846 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24503780 More... NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:10439123 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29875424 More... NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21089
    syndrome 10784
      Sudden Unexpected Nocturnal Death Syndrome 24
Path 2
Term Annotations click to browse term
  disease 21089
    Developmental Disease 18391
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18246
        genetic disease 18183
          monogenic disease 10160
            Brugada syndrome 123
              Sudden Unexpected Nocturnal Death Syndrome 24
paths to the root