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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.



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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 4:30,056,738...30,192,716
Ensembl chr 4:30,056,738...30,192,606
JBrowse link
G Alg10 ALG10, alpha-1,2-glucosyltransferase ISO ClinVar Annotator: match by OMIM:613688 ClinVar PMID:15280551 NCBI chr 7:121,335,042...121,340,308
Ensembl chr 7:121,335,042...121,340,308
JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Long QT syndrome 2 ClinVar NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923
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 More... NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008
JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Long QT syndrome 2 ClinVar PMID:9536098 PMID:9570196 PMID:9654228 PMID:10477533 PMID:10973849 More... NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669
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 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: Long QT syndrome 2 ClinVar NCBI chr 3:142,876,285...142,906,737
Ensembl chr 3:142,876,296...142,906,709
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      long QT syndrome 253
        long QT syndrome 2 7
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal dominant disease 4490
                long QT syndrome 2 7
paths to the root