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ONTOLOGY REPORT - ANNOTATIONS


Term:catecholaminergic polymorphic ventricular tachycardia
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Accession:DOID:0060674 term browser browse the term
Definition:A heart conduction disease characterized by adrenergically induced ventricular tachycardia manifesting as syncope and sudden death during exercise, stress or catecholamine infusion without the presence of structural cardiac abnormalities. (DO)
Synonyms:exact_synonym: bidirectional tachycardia induced by catecholamines;   catecholamine-induced polymorphic ventricular tachycardia
 related_synonym: VTSIP;   stress-induced polymorphic ventricular tachycardia
 primary_id: MESH:C536334
 alt_id: RDO:0001877
 xref: OMIM:PS604772;   ORDO:3286
For additional species annotation, visit the Alliance of Genome Resources.


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catecholaminergic polymorphic ventricular tachycardia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actn2 actinin alpha 2 JBrowse link 17 66,304,530 66,397,647 RGD:8554872
G Akap9 A-kinase anchoring protein 9 JBrowse link 4 27,195,346 27,331,582 RGD:8554872
G Cacna1c calcium voltage-gated channel subunit alpha1 C JBrowse link 4 150,635,808 151,270,790 RGD:8554872
G Calm1 calmodulin 1 JBrowse link 6 124,217,241 124,225,292 RGD:11554173
RGD:8554872
G Casq2 calsequestrin 2 JBrowse link 2 204,512,361 204,568,643 RGD:8554872
RGD:11554173
G Dsg2 desmoglein 2 JBrowse link 18 15,579,322 15,637,720 RGD:8554872
G Fkbp1b FKBP prolyl isomerase 1B JBrowse link 6 29,975,863 29,987,252 RGD:13592920
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase JBrowse link 17 66,210,444 66,295,014 RGD:8554872
G Mybpc3 myosin binding protein C3 JBrowse link 3 79,940,509 79,958,731 RGD:8554872
G Ryr2 ryanodine receptor 2 JBrowse link 17 65,533,998 65,955,606 RGD:8554872
RGD:11554173
G Scn5a sodium voltage-gated channel alpha subunit 5 JBrowse link 8 128,169,191 128,266,681 RGD:8554872
G Tecrl trans-2,3-enoyl-CoA reductase-like JBrowse link 14 26,662,851 26,735,878 RGD:11554173
G Tpm1 tropomyosin 1 JBrowse link 8 72,814,737 72,841,496 RGD:8554872
G Trdn triadin JBrowse link 1 25,403,390 25,787,664 RGD:7327227
RGD:8554872
G Vangl1 VANGL planar cell polarity protein 1 JBrowse link 2 204,575,592 204,625,835 RGD:8554872
catecholaminergic polymorphic ventricular tachycardia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ank2 ankyrin 2 JBrowse link 2 231,224,643 231,522,655 RGD:8554872
G Calm1 calmodulin 1 JBrowse link 6 124,217,241 124,225,292 RGD:8554872
G Casq2 calsequestrin 2 JBrowse link 2 204,512,361 204,568,643 RGD:8554872
RGD:11554173
G Dmpk DM1 protein kinase JBrowse link 1 79,988,096 79,999,358 RGD:8554872
G Dsg2 desmoglein 2 JBrowse link 18 15,579,322 15,637,720 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 Lama4 laminin subunit alpha 4 JBrowse link 20 44,060,715 44,201,966 RGD:8554872
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
G Mybpc3 myosin binding protein C3 JBrowse link 3 79,940,509 79,958,731 RGD:8554872
G Ryr2 ryanodine receptor 2 JBrowse link 17 65,533,998 65,955,606 RGD:7240710
RGD:8554872
G Scn5a sodium voltage-gated channel alpha subunit 5 JBrowse link 8 128,169,191 128,266,681 RGD:8554872
G Tpm1 tropomyosin 1 JBrowse link 8 72,814,737 72,841,496 RGD:8554872
G Trdn triadin JBrowse link 1 25,403,390 25,787,664 RGD:11554173
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 JBrowse link 1 101,293,300 101,323,484 RGD:8554872
catecholaminergic polymorphic ventricular tachycardia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Casq2 calsequestrin 2 JBrowse link 2 204,512,361 204,568,643 RGD:8554872
RGD:7240710
G Ryr2 ryanodine receptor 2 JBrowse link 17 65,533,998 65,955,606 RGD:8554872
G Vangl1 VANGL planar cell polarity protein 1 JBrowse link 2 204,575,592 204,625,835 RGD:8554872
catecholaminergic polymorphic ventricular tachycardia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tecrl trans-2,3-enoyl-CoA reductase-like JBrowse link 14 26,662,851 26,735,878 RGD:8554872
RGD:7240710
catecholaminergic polymorphic ventricular tachycardia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Calm1 calmodulin 1 JBrowse link 6 124,217,241 124,225,292 RGD:8554872
RGD:7240710
catecholaminergic polymorphic ventricular tachycardia 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trdn triadin JBrowse link 1 25,403,390 25,787,664 RGD:7240710
RGD:8554872
Long QT Syndrome 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Calm3 calmodulin 3 JBrowse link 1 78,844,520 78,851,628 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    Developmental Diseases 9336
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8164
        genetic disease 7688
          monogenic disease 5446
            catecholaminergic polymorphic ventricular tachycardia 23
              Long QT Syndrome 16 1
              catecholaminergic polymorphic ventricular tachycardia 1 15
              catecholaminergic polymorphic ventricular tachycardia 2 3
              catecholaminergic polymorphic ventricular tachycardia 3 1
              catecholaminergic polymorphic ventricular tachycardia 4 1
              catecholaminergic polymorphic ventricular tachycardia 5 1
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      cardiovascular system disease 4377
        heart disease 2600
          Cardiac Arrhythmias 585
            Tachycardia 78
              Ventricular Tachycardia 53
                catecholaminergic polymorphic ventricular tachycardia 23
                  Long QT Syndrome 16 1
                  catecholaminergic polymorphic ventricular tachycardia 1 15
                  catecholaminergic polymorphic ventricular tachycardia 2 3
                  catecholaminergic polymorphic ventricular tachycardia 3 1
                  catecholaminergic polymorphic ventricular tachycardia 4 1
                  catecholaminergic polymorphic ventricular tachycardia 5 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.