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Term:long QT syndrome 1
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Accession:DOID:0110644 term browser browse the term
Definition:A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNQ1 gene on chromosome 11p15.5-p15.4. (DO)
Synonyms:exact_synonym: LQT1;   LQT1 subtype;   long QT syndrome type 1;   long QT syndrome, LQT1 subtype;   ventricular fibrillation with prolonged QT interval
 primary_id: RDO:9000717
 xref: GARD:3284
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long QT syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Calm2 calmodulin 2 JBrowse link 6 11,067,675 11,080,078 RGD:8554872
G Calm3 calmodulin 3 JBrowse link 1 78,844,520 78,851,628 RGD:8554872
G Dsp desmoplakin JBrowse link 17 27,286,811 27,334,453 RGD:8554872
G Kcnh2 potassium voltage-gated channel subfamily H member 2 JBrowse link 4 7,355,066 7,387,282 RGD:8554872
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 JBrowse link 1 216,293,087 216,630,339 RGD:8554872
G Scn5a sodium voltage-gated channel alpha subunit 5 JBrowse link 8 128,169,191 128,266,681 RGD:8554872

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  disease 14924
    syndrome 4713
      long QT syndrome 176
        long QT syndrome 1 6
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  disease 14924
    Developmental Diseases 7770
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7092
        Congenital Abnormalities 3188
          Cardiovascular Abnormalities 781
            congenital heart disease 730
              long QT syndrome 176
                long QT syndrome 1 6
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.