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ONTOLOGY REPORT - ANNOTATIONS


Term:catecholaminergic polymorphic ventricular tachycardia 1
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Accession:DOID:0060675 term browser browse the term
Definition:A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the RYR2 gene on chromosome 1q43. (DO)
Synonyms:exact_synonym: CPVT1;   CVPT1;   catecholaminergic polymorphic ventricular tachycardia 1, with or without atrial dysfunction and/or dilated cardiomyopathy
 primary_id: OMIM:604772
 alt_id: RDO:0008953
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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 C, cardiac 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

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Path 1
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  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            catecholaminergic polymorphic ventricular tachycardia 21
              catecholaminergic polymorphic ventricular tachycardia 1 15
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      cardiovascular system disease 4277
        heart disease 2368
          Cardiac Arrhythmias 527
            Tachycardia 64
              Ventricular Tachycardia 40
                catecholaminergic polymorphic ventricular tachycardia 21
                  catecholaminergic polymorphic ventricular tachycardia 1 15
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