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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
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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.


show annotations for term's descendants           Sort by:
 
catecholaminergic polymorphic ventricular tachycardia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTN2 actinin alpha 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:28492532 NCBI chr 4:3,348,529...3,415,275
Ensembl chr 4:3,348,449...3,415,273
JBrowse link
G AKAP9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:23861362, PMID:25741868, PMID:28492532 NCBI chr14:17,590,256...17,743,646
Ensembl chr14:17,590,772...17,740,294
JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:25633834, PMID:25741868, PMID:28492532 NCBI chr27:44,007,363...44,748,251
Ensembl chr27:44,008,020...44,746,429
JBrowse link
G CALM1 calmodulin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia
CTD
ClinVar
PMID:23040497, PMID:24563457, PMID:24816216, PMID:25557436, PMID:25741868, PMID:26309258, PMID:28492532 NCBI chr 8:61,398,231...61,408,874
Ensembl chr 8:61,398,244...61,406,195
JBrowse link
G CASQ2 calsequestrin 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia
ClinVar Annotator: match by term: Catecholaminergic Polymorphic Ventricular Tachycardia
ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC
CTD
ClinVar
PMID:12034872, PMID:12386154, PMID:14571276, PMID:16601229, PMID:17881003, PMID:18469084, PMID:18543230, PMID:18583715, PMID:18684293, PMID:19709828, PMID:20353949, PMID:20513597, PMID:20530761, PMID:21063088, PMID:21076409, PMID:21265816, PMID:21454795, PMID:21618644, PMID:22421959, PMID:22553997, PMID:23595086, PMID:23861362, PMID:24025405, PMID:24033266, PMID:24503780, PMID:25163546, PMID:25651173, PMID:25691538, PMID:25741868, PMID:26230511, PMID:26671417, PMID:27930701, PMID:28074886, PMID:28404607, PMID:28492532, PMID:29032884, PMID:30729048 NCBI chr17:53,233,966...53,299,093
Ensembl chr17:53,224,438...53,299,708
JBrowse link
G DSG2 desmoglein 2 ISO ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia 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 chr 7:57,981,918...58,030,197
Ensembl chr 7:57,982,825...58,077,926
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:28492532 NCBI chr 4:3,219,851...3,328,000
Ensembl chr 4:3,215,090...3,328,115
JBrowse link
G MYBPC3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:25741868 NCBI chr18:42,271,159...42,288,782
Ensembl chr18:42,271,724...42,289,215
JBrowse link
G RYR2 ryanodine receptor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia
ClinVar Annotator: match by term: Catecholamine-induced polymorphic ventricular tachycardia
ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia
CTD
ClinVar
PMID:1572740, PMID:8589694, PMID:11157710, PMID:11159936, PMID:11208676, PMID:11389482, PMID:12093772, PMID:12106942, PMID:12837242, PMID:12919952, PMID:14571276, PMID:15131021, PMID:15175054, PMID:15197150, PMID:15364606, PMID:15364613, PMID:15466642, PMID:15544015, PMID:15721128, PMID:15749201, PMID:15887426, PMID:15890976, PMID:16084945, PMID:16188589, PMID:16239587, PMID:16272262, PMID:16391617, PMID:16436635, PMID:16517285, PMID:16769042, PMID:16818210, PMID:16843546, PMID:16873551, PMID:17062961, PMID:17558603, PMID:17875969, PMID:18092949, PMID:18326664, PMID:18483626, PMID:18752142, PMID:19216760, PMID:19226252, PMID:19345240, PMID:19362677, PMID:19398665, PMID:19541610, PMID:19597050, PMID:19709828, PMID:19781797, PMID:19913485, PMID:19926015, PMID:20080988, PMID:20106799, PMID:20157052, PMID:20513597, PMID:20676041, PMID:20851825, PMID:20961976, PMID:21292648, PMID:21315846, PMID:21454795, PMID:21478052, PMID:21616285, PMID:21645850, PMID:21652165, PMID:21659649, PMID:21768539, PMID:21964171, PMID:22068070, PMID:22221940, PMID:22222782, PMID:22373669, PMID:22374134, PMID:22515980, PMID:22584762, PMID:22677073, PMID:22787013, PMID:22828895, PMID:23022705, PMID:23098067, PMID:23152493, PMID:23204524, PMID:23286974, PMID:23396983, PMID:23479668, PMID:23595086, PMID:23651034, PMID:23757202, PMID:23820649, PMID:23861362, PMID:23871484, PMID:23978697, PMID:24025405, PMID:24033266, PMID:24055113, PMID:24136861, PMID:24394973, PMID:24447446, PMID:24503780, PMID:24558114, PMID:24631775, PMID:24728420, PMID:24743769, PMID:24793461, PMID:24978818, PMID:24981977, PMID:25041964, PMID:25087098, PMID:25092222, PMID:25163546, PMID:25193700, PMID:25194972, PMID:25351510, PMID:25440180, PMID:25445213, PMID:25467552, PMID:25554238, PMID:25637381, PMID:25650408, PMID:25713214, PMID:25741868, PMID:25814417, PMID:25835811, PMID:25844899, PMID:25925909, PMID:26018045, PMID:26112015, PMID:26114861, PMID:26132555, PMID:26153920, PMID:26189708, PMID:26272908, PMID:26332594, PMID:26383259, PMID:26498160, PMID:26569459, PMID:26633542, PMID:26656175, PMID:26688388, PMID:26704558, PMID:26743238, 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:27650965, PMID:27727376, PMID:27733687, PMID:27756708, PMID:27930701, PMID:28087566, PMID:28100344, PMID:28125075, PMID:28202948, PMID:28237968, PMID:28256248, PMID:28404607, PMID:28416588, PMID:28422759, PMID:28449774, PMID:28492532, PMID:28567303, PMID:28600387, PMID:28620067, PMID:28697927, PMID:28750076, PMID:28771489, PMID:28798025, PMID:28961276, PMID:29032884, PMID:29247119, PMID:29396286, PMID:29453246, PMID:29511324, PMID:29555771, PMID:30197081, PMID:30311386, PMID:30403697, PMID:30615648, PMID:30835254, PMID:31112425 NCBI chr 4:2,371,868...2,908,132
Ensembl chr 4:2,373,114...2,907,875
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:15840476, PMID:19841300, PMID:20129283, PMID:22581653, PMID:23805106, PMID:24033266, PMID:25351510, PMID:25741868, PMID:25904541, PMID:28492532 NCBI chr23:8,278,844...8,374,614
Ensembl chr23:8,280,793...8,358,560
JBrowse link
G TECRL trans-2,3-enoyl-CoA reductase like ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:55,257,460...55,373,317
Ensembl chr13:55,184,174...55,373,095
JBrowse link
G TPM1 tropomyosin 1 ISO ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr30:27,636,407...27,664,907
Ensembl chr30:27,636,283...27,664,442
JBrowse link
G TRDN triadin ISO DNA:nonsense mutation, missense mutation, deletion:exons:p.Q205X, p.T59R, c.del53_56ACAG (human)
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia
RGD
ClinVar
PMID:19763152, PMID:20307669, PMID:21520333, PMID:22406018, PMID:22422768, PMID:23035052, PMID:24033266, PMID:25650408, PMID:25741868, PMID:25922419, PMID:26200674, PMID:26768964, PMID:28492532 RGD:7327227 NCBI chr 1:62,402,763...62,762,717
Ensembl chr 1:62,402,642...62,762,722
JBrowse link
G VANGL1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr17:53,174,080...53,227,616
Ensembl chr17:53,174,127...53,220,765
JBrowse link
catecholaminergic polymorphic ventricular tachycardia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANK2 ankyrin 2 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar PMID:16253912, PMID:22581653, PMID:28492532 NCBI chr32:32,484,196...33,143,295
Ensembl chr32:32,671,281...33,141,036
JBrowse link
G CALM1 calmodulin 1 ISO 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 chr 8:61,398,231...61,408,874
Ensembl chr 8:61,398,244...61,406,195
JBrowse link
G CASQ2 calsequestrin 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1
ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC
CTD
ClinVar
PMID:19398665, PMID:21618644, PMID:23861362, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr17:53,233,966...53,299,093
Ensembl chr17:53,224,438...53,299,708
JBrowse link
G DMPK DM1 protein kinase ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar NCBI chr 1:109,824,103...109,834,986
Ensembl chr 1:109,824,597...109,834,976
JBrowse link
G DSG2 desmoglein 2 ISO 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 chr 7:57,981,918...58,030,197
Ensembl chr 7:57,982,825...58,077,926
JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1 ClinVar PMID:28492532 NCBI chr35:7,479,628...7,524,732
Ensembl chr35:7,479,643...7,524,044
JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar NCBI chr16:15,009,031...15,041,786
Ensembl chr16:15,009,031...15,041,504
JBrowse link
G LAMA4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar NCBI chr12:68,535,614...68,639,115
Ensembl chr12:68,535,860...68,678,762
JBrowse link
G LMNA lamin A/C ISO 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 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931
JBrowse link
G MYBPC3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1
ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1
ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr18:42,271,159...42,288,782
Ensembl chr18:42,271,724...42,289,215
JBrowse link
G RYR2 ryanodine receptor 2 ISO OMIM NCBI chr 4:2,371,868...2,908,132
Ensembl chr 4:2,373,114...2,907,875
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO 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 chr23:8,278,844...8,374,614
Ensembl chr23:8,280,793...8,358,560
JBrowse link
G TPM1 tropomyosin 1 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1 ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr30:27,636,407...27,664,907
Ensembl chr30:27,636,283...27,664,442
JBrowse link
G TRDN triadin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:62,402,763...62,762,717
Ensembl chr 1:62,402,642...62,762,722
JBrowse link
G TRPM4 transient receptor potential cation channel subfamily M member 4 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar NCBI chr 1:107,261,760...107,304,157
Ensembl chr 1:107,261,756...107,303,346
JBrowse link
catecholaminergic polymorphic ventricular tachycardia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASQ2 calsequestrin 2 ISO OMIM NCBI chr17:53,233,966...53,299,093
Ensembl chr17:53,224,438...53,299,708
JBrowse link
G RYR2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 2 ClinVar PMID:25741868 NCBI chr 4:2,371,868...2,908,132
Ensembl chr 4:2,373,114...2,907,875
JBrowse link
G VANGL1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 2 ClinVar PMID:24033266, PMID:25741868, PMID:26196381, PMID:28492532 NCBI chr17:53,174,080...53,227,616
Ensembl chr17:53,174,127...53,220,765
JBrowse link
catecholaminergic polymorphic ventricular tachycardia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TECRL trans-2,3-enoyl-CoA reductase like ISO OMIM NCBI chr13:55,257,460...55,373,317
Ensembl chr13:55,184,174...55,373,095
JBrowse link
catecholaminergic polymorphic ventricular tachycardia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CALM1 calmodulin 1 ISO OMIM NCBI chr 8:61,398,231...61,408,874
Ensembl chr 8:61,398,244...61,406,195
JBrowse link
catecholaminergic polymorphic ventricular tachycardia 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRDN triadin ISO OMIM NCBI chr 1:62,402,763...62,762,717
Ensembl chr 1:62,402,642...62,762,722
JBrowse link
Long QT Syndrome 16 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CALM3 calmodulin 3 ISO OMIM NCBI chr 1:109,284,729...109,294,491
Ensembl chr 1:109,286,155...109,294,391
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12675
    Developmental Diseases 8958
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7829
        genetic disease 7349
          monogenic disease 5357
            catecholaminergic polymorphic ventricular tachycardia 22
              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 12675
    disease of anatomical entity 12213
      cardiovascular system disease 3355
        heart disease 2396
          Cardiac Arrhythmias 583
            Tachycardia 81
              Ventricular Tachycardia 56
                catecholaminergic polymorphic ventricular tachycardia 22
                  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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