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ONTOLOGY REPORT - ANNOTATIONS


Term:long QT syndrome 6
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Accession:DOID:0110648 term browser browse the term
Definition:A long QT interval syndrome that has_material_basis_in dominant inheritance of mutation in the KCNE2 gene on chromosome 21q22.11. (DO)
Synonyms:exact_synonym: LQT6
 broad_synonym: KCNE2-RELATED DISORDER
 related_synonym: LONG QT SYNDROME 6, ACQUIRED, SUSCEPTIBILITY TO
 primary_id: MESH:C566333
 alt_id: OMIM:613693;   RDO:0014716
 xref: GARD:10434
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long QT syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clic6 chloride intracellular channel 6 JBrowse link 11 32,655,653 32,698,004 RGD:8554872
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 JBrowse link 11 32,498,260 32,511,202 RGD:8554872
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 JBrowse link 11 32,434,786 32,447,264 RGD:7240710
RGD:8554872
G Rcan1 regulator of calcineurin 1 JBrowse link 11 32,539,689 32,620,274 RGD:8554872
G Runx1 RUNX family transcription factor 1 JBrowse link 11 32,765,147 33,003,061 RGD:8554872
G Smim11a small integral membrane protein 11A JBrowse link 11 32,450,508 32,460,244 RGD:8554872

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  disease 16022
    syndrome 6143
      long QT syndrome 247
        long QT syndrome 6 6
Path 2
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  disease 16022
    Developmental Diseases 9336
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8164
        genetic disease 7688
          monogenic disease 5446
            autosomal genetic disease 4409
              autosomal dominant disease 2753
                long QT syndrome 6 6
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.