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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: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: CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA TYPE 1;   CPVT1;   CVPT1;   catecholaminergic polymorphic ventricular tachycardia 1, with or without atrial dysfunction and/or dilated cardiomyopathy
 primary_id: OMIM:604772
 alt_id: RDO:0008953
 xref: NCI:C123414
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
catecholaminergic polymorphic ventricular tachycardia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANK2 ankyrin 2 IAGP ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar PMID:16253912, PMID:22581653, PMID:28492532 NCBI chr 4:112,705,622...113,383,736
Ensembl chr 4:112,818,032...113,384,221
JBrowse link
G CALM1 calmodulin 1 IAGP ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1
ClinVar PMID:23040497, PMID:23388215, PMID:24563457, PMID:24816216, PMID:25557436, PMID:25741868, PMID:26164367, PMID:26309258, PMID:27165696, PMID:28492532 NCBI chr14:90,396,502...90,408,268
Ensembl chr14:90,396,502...90,408,268
JBrowse link
G CASQ2 calsequestrin 2 IAGP
EXP
ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC
ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1
ClinVar
CTD
PMID:19398665, PMID:21618644, PMID:23861362, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 1:115,700,021...115,768,714
Ensembl chr 1:115,700,021...115,768,714
Ensembl chr 1:115,700,021...115,768,714
JBrowse link
G DMPK DM1 protein kinase IAGP ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar NCBI chr19:45,769,709...45,782,490
Ensembl chr19:45,769,717...45,782,552
Ensembl chr19:45,769,717...45,782,552
JBrowse link
G DSG2 desmoglein 2 IAGP ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1 ClinVar PMID:17105751, PMID:18678517, PMID:19039334, PMID:20031616, PMID:20031617, PMID:20716751, PMID:20864495, PMID:21606390, PMID:23810883, PMID:23861362, PMID:24033266, PMID:24055113, PMID:25741868, PMID:28492532 NCBI chr18:31,498,177...31,549,008
Ensembl chr18:31,498,177...31,549,008
JBrowse link
G DSP desmoplakin IAGP ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1 ClinVar PMID:28492532 NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,617...7,586,714
JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 IAGP ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar NCBI chr 7:150,944,956...150,978,321
Ensembl chr 7:150,944,961...150,978,321
JBrowse link
G LAMA4 laminin subunit alpha 4 IAGP ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar NCBI chr 6:112,107,931...112,254,722
Ensembl chr 6:112,107,931...112,254,939
JBrowse link
G LMNA lamin A/C IAGP ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1 ClinVar PMID:12376891, PMID:12467752, PMID:14597414, PMID:15372542, PMID:17107595, PMID:19524666, PMID:23861362, PMID:23977161, PMID:24033266, PMID:24623722, PMID:24794538, PMID:25448463, PMID:25741868, PMID:28492532, PMID:28531892 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,089
JBrowse link
G MYBPC3 myosin binding protein C3 IAGP ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1
ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702
JBrowse link
G RYR2 ryanodine receptor 2 IAGP ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1
ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
ClinVar
OMIM
PMID:1572740, PMID:8589694, PMID:11157710, PMID:11159936, PMID:11208676, PMID:12093772, PMID:12837242, PMID:12919952, PMID:14571276, PMID:15197150, PMID:15466642, PMID:15721128, PMID:15749201, PMID:15890976, PMID:16188589, PMID:16239587, PMID:16272262, PMID:16436635, PMID:16769042, PMID:16843546, PMID:16873551, PMID:17558603, PMID:17875969, PMID:17984046, PMID:18092949, PMID:18326664, PMID:18483626, PMID:18752142, PMID:19216760, PMID:19226252, PMID:19345240, PMID:19362677, PMID:19398665, PMID:19597050, PMID:19709828, PMID:19926015, PMID:20106799, PMID:20157052, PMID:20851825, PMID:21315846, PMID:21454795, PMID:21616285, PMID:21659649, PMID:21768539, PMID:21964171, PMID:22221940, PMID:22222782, PMID:22374134, PMID:22396703, PMID:22515980, PMID:22677073, PMID:22787013, PMID:23022705, PMID:23204524, PMID:23286974, PMID:23396983, PMID:23595086, PMID:23820649, PMID:23861362, PMID:24025405, PMID:24033266, PMID:24055113, PMID:24136861, PMID:24447446, PMID:24503780, PMID:24558114, PMID:24631775, PMID:24978818, PMID:24981977, PMID:25041964, PMID:25092222, PMID:25163546, PMID:25194972, PMID:25351510, PMID:25467552, PMID:25637381, PMID:25650408, PMID:25713214, PMID:25741868, PMID:25844899, PMID:25925909, PMID:26018045, PMID:26114861, PMID:26189708, PMID:26272908, PMID:26332594, PMID:26498160, PMID:26633542, PMID:26656175, PMID:26899768, PMID:27054166, PMID:27153395, PMID:27194543, PMID:27229459, PMID:27231019, PMID:27353043, PMID:27435932, PMID:27452199, PMID:27482086, PMID:27532257, PMID:27538377, PMID:27727376, PMID:27756708, PMID:27930701, PMID:28100344, PMID:28125075, PMID:28237968, PMID:28256248, PMID:28404607, PMID:28492532, PMID:28567303, PMID:28620067, PMID:29247119, PMID:29396286, PMID:29453246, PMID:29511324, PMID:30086531, PMID:30311386, PMID:30403697 NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar PMID:15840476, PMID:19841300, PMID:20129283, PMID:22581653, PMID:23805106, PMID:24033266, PMID:25351510, PMID:25741868, PMID:25904541, PMID:28492532 NCBI chr 3:38,548,061...38,649,687
Ensembl chr 3:38,548,057...38,649,687
Ensembl chr 3:38,548,057...38,649,687
JBrowse link
G TPM1 tropomyosin 1 IAGP ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1 ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr15:63,042,698...63,071,915
Ensembl chr15:63,042,632...63,071,915
JBrowse link
G TRDN triadin EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:123,216,339...123,636,950
Ensembl chr 6:123,216,339...123,637,093
JBrowse link
G TRPM4 transient receptor potential cation channel subfamily M member 4 IAGP ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar NCBI chr19:49,157,792...49,211,841
Ensembl chr19:49,157,741...49,211,836
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18837
    Developmental Diseases 12132
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9981
        genetic disease 9460
          monogenic disease 6898
            catecholaminergic polymorphic ventricular tachycardia 27
              catecholaminergic polymorphic ventricular tachycardia 1 15
Path 2
Term Annotations click to browse term
  disease 18837
    disease of anatomical entity 17323
      cardiovascular system disease 3913
        heart disease 2780
          Cardiac Arrhythmias 645
            Tachycardia 90
              Ventricular Tachycardia 62
                catecholaminergic polymorphic ventricular tachycardia 27
                  catecholaminergic polymorphic ventricular tachycardia 1 15
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.