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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:long QT syndrome 2
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Accession:DOID:0110645 term browser browse the term
Definition:A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNH2 gene on chromosome 7q36.1. (DO)
Synonyms:exact_synonym: LONG QT SYNDROME, BRADYCARDIA-INDUCED;   LQT2
 narrow_synonym: LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO;   LONG QT SYNDROME 2/9, DIGENIC;   LQT2/9, digenic
 primary_id: MESH:C563614
 alt_id: OMIM:613688;   RDO:0012829
 xref: GARD:3285;   NCI:C137957
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
long QT syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Long QT syndrome 2 ClinVar PMID:23861362 PMID:28492532 NCBI chr 4:27,195,346...27,331,582
Ensembl chr 4:27,195,346...27,331,582
JBrowse link
G Alg10 ALG10, alpha-1,2-glucosyltransferase ISO ClinVar Annotator: match by OMIM:613688 ClinVar PMID:15280551 NCBI chr 7:131,330,913...131,336,183
Ensembl chr 7:131,330,913...131,336,183
JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Long QT syndrome 2 ClinVar NCBI chr 2:231,224,643...231,522,655
Ensembl chr 2:231,226,949...231,648,122
JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Long QT syndrome 2
ClinVar Annotator: match by term: Long QT syndrome 2, acquired, susceptibility to
ClinVar Annotator: match by term: Long QT syndrome, bradycardia-induced
ClinVar Annotator: match by OMIM:613688
OMIM
ClinVar
PMID:2294929 PMID:7889573 PMID:8635257 PMID:8700910 PMID:8799887 PMID:8914737 PMID:8995352 PMID:9024139 PMID:9452080 PMID:9544837 PMID:9600240 PMID:9693036 PMID:9694858 PMID:9721698 PMID:9927399 PMID:10086971 PMID:10187793 PMID:10220144 PMID:10220146 PMID:10226095 PMID:10483966 PMID:10560244 PMID:10735633 PMID:10753933 PMID:10807545 PMID:10841244 PMID:10862094 PMID:10862104 PMID:10973849 PMID:10996323 PMID:11113008 PMID:11170080 PMID:11222472 PMID:11278781 PMID:11334843 PMID:11468227 PMID:11524404 PMID:11668638 PMID:11668641 PMID:11741928 PMID:11802537 PMID:11854117 PMID:11997281 PMID:12021266 PMID:12175777 PMID:12354768 PMID:12402336 PMID:12477631 PMID:12566525 PMID:12621127 PMID:12690509 PMID:12775564 PMID:12775586 PMID:12808265 PMID:12829173 PMID:12877697 PMID:14661677 PMID:14720170 PMID:14760488 PMID:14975928 PMID:14998624 PMID:15051636 PMID:15090700 PMID:15176425 PMID:15466642 PMID:15522280 PMID:15599693 PMID:15746444 PMID:15760896 PMID:15840476 PMID:15851119 PMID:16116052 PMID:16132053 PMID:16155735 PMID:16253915 PMID:16361248 PMID:16379539 PMID:16414944 PMID:16432067 PMID:16487223 PMID:16720674 PMID:16754261 PMID:16818214 PMID:16831322 PMID:16842670 PMID:16922724 PMID:17060380 PMID:17088455 PMID:17160940 PMID:17161064 PMID:17210839 PMID:17224687 PMID:17275752 PMID:17445409 PMID:17531263 PMID:17560885 PMID:17576861 PMID:17597962 PMID:17905336 PMID:18060054 PMID:18222980 PMID:18426444 PMID:18441445 PMID:18464931 PMID:18551196 PMID:18593567 PMID:18596570 PMID:18752142 PMID:18808722 PMID:19019189 PMID:19038855 PMID:19057127 PMID:19070294 PMID:19160088 PMID:19305409 PMID:19306396 PMID:19322600 PMID:19490267 PMID:19490382 PMID:19673885 PMID:19716085 PMID:19731233 PMID:19841298 PMID:19841300 PMID:19843919 PMID:19862833 PMID:19926013 PMID:19996378 PMID:20167303 PMID:20181576 PMID:20197117 PMID:20486126 PMID:20541041 PMID:20659946 PMID:20674198 PMID:20833965 PMID:20850565 PMID:20851114 PMID:20931094 PMID:20960620 PMID:20975234 PMID:21063070 PMID:21109023 PMID:21185501 PMID:21215473 PMID:21240260 PMID:21244686 PMID:21295269 PMID:21350584 PMID:21367833 PMID:21376840 PMID:21410720 PMID:21419236 PMID:21440677 PMID:21490315 PMID:21573751 PMID:21661061 PMID:21703926 PMID:21737021 PMID:21779290 PMID:21806934 PMID:21960720 PMID:22052944 PMID:22067087 PMID:22173492 PMID:22245016 PMID:22378279 PMID:22382559 PMID:22402074 PMID:22402334 PMID:22429796 PMID:22573844 PMID:22581653 PMID:22653970 PMID:22677073 PMID:22876326 PMID:22949429 PMID:22995991 PMID:23098067 PMID:23139254 PMID:23158531 PMID:23174487 PMID:23303164 PMID:23304551 PMID:23338923 PMID:23347029 PMID:23465283 PMID:23631430 PMID:23861362 PMID:23935525 PMID:23936059 PMID:24015048 PMID:24021552 PMID:24033266 PMID:24055113 PMID:24057343 PMID:24217263 PMID:24334129 PMID:24363352 PMID:24596401 PMID:24606995 PMID:24623279 PMID:24631775 PMID:24687331 PMID:24973560 PMID:25028483 PMID:25119684 PMID:25348405 PMID:25417810 PMID:25447171 PMID:25637381 PMID:25741868 PMID:25914329 PMID:25967940 PMID:26063740 PMID:26129877 PMID:26159999 PMID:26164358 PMID:26187847 PMID:26213684 PMID:26332594 PMID:26467025 PMID:26496715 PMID:26669661 PMID:26704558 PMID:26743238 PMID:26746457 PMID:26846766 PMID:26847485 PMID:26937405 PMID:26958806 PMID:26986070 PMID:27000522 PMID:27041096 PMID:27041150 PMID:27153395 PMID:27650965 PMID:27803431 PMID:27816319 PMID:27920829 PMID:28003625 PMID:28049825 PMID:28082916 PMID:28255936 PMID:28302345 PMID:28360401 PMID:28431243 PMID:28449774 PMID:28472724 PMID:28492532 PMID:28532774 PMID:28704380 PMID:28988457 PMID:29247119 PMID:29622001 PMID:29661707 PMID:29672598 PMID:29752375 PMID:29759541 PMID:29766885 PMID:30041777 PMID:30086531 PMID:30246897 PMID:30276209 PMID:30311386 PMID:31539150 PMID:32238909 NCBI chr 4:7,355,066...7,387,282
Ensembl chr 4:7,355,574...7,387,253
JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Long QT syndrome 2 ClinVar PMID:9570196 PMID:9654228 PMID:9799083 PMID:10477533 PMID:10973849 PMID:19716085 PMID:21810471 PMID:22629021 PMID:25741868 PMID:27485560 PMID:28492532 PMID:29857160 NCBI chr 1:216,293,087...216,630,339
Ensembl chr 1:216,293,087...216,630,339
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Long QT syndrome 2 ClinVar PMID:18378609 PMID:21321465 PMID:22581653 PMID:22685113 PMID:25741868 PMID:28202948 PMID:28492532 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: Long QT syndrome 2 ClinVar NCBI chr 3:149,874,023...149,905,980
Ensembl chr 3:149,874,030...149,905,944
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      long QT syndrome 250
        long QT syndrome 2 7
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal dominant disease 3058
                long QT syndrome 2 7
paths to the root