.
catecholaminergic polymorphic ventricular tachycardia 2 - Ontology Report - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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 2
go back to main search page
Accession:DOID:0060676 term browser browse the term
Definition:A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has_material_basis_in homozygous or compound heterozygous mutation in the CASQ2 gene on chromosome 1p13. (DO)
Synonyms:exact_synonym: CPVT2;   CVPT2;   VTSIP2;   ventricular tachycardia, stress-induced polymorphic 2
 xref: ICD10CM:I47.2;   MIM:611938;   MONDO:0012762

Please select species to view GViewer data.

show annotations for term's descendants           Sort by:
catecholaminergic polymorphic ventricular tachycardia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Casq2 calsequestrin 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 OMIM
ClinVar		 PMID:9536098 PMID:11704930 PMID:12034872 PMID:12386154 PMID:14571276 More... NCBI chrNW_004624772:11,458,994...11,521,809
Ensembl chrNW_004624772:11,456,554...11,521,939 		JBrowse link
G G CASQ2 calsequestrin 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 OMIM
ClinVar		 PMID:9536098 PMID:11704930 PMID:12034872 PMID:12386154 PMID:14571276 More... NCBI chr20:17,937,089...18,008,433
Ensembl chr20:17,937,524...18,008,786 		JBrowse link
G P CASQ2 calsequestrin 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 OMIM
ClinVar		 PMID:9536098 PMID:11704930 PMID:12034872 PMID:12386154 PMID:14571276 More... NCBI chr 4:104,918,204...104,984,019
Ensembl chr 4:104,918,221...104,984,020 		JBrowse link
G S Casq2 calsequestrin 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 OMIM
ClinVar		 PMID:9536098 PMID:11704930 PMID:12034872 PMID:12386154 PMID:14571276 More... NCBI chrNW_004936627:1,001,681...1,069,377
Ensembl chrNW_004936627:1,001,678...1,069,438 		JBrowse link
G D CASQ2 calsequestrin 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 OMIM
ClinVar		 PMID:9536098 PMID:11704930 PMID:12034872 PMID:12386154 PMID:14571276 More... NCBI chr17:53,233,966...53,299,093
Ensembl chr17:53,224,438...53,299,708 		JBrowse link
G B CASQ2 calsequestrin 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 OMIM
ClinVar		 PMID:9536098 PMID:11704930 PMID:12034872 PMID:12386154 PMID:14571276 More... NCBI chr 1:86,795,392...86,864,196
Ensembl chr 1:121,844,097...121,913,311 		JBrowse link
G C Casq2 calsequestrin 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 OMIM
ClinVar		 PMID:9536098 PMID:11704930 PMID:12034872 PMID:12386154 PMID:14571276 More... NCBI chrNW_004955435:18,941,975...18,996,027
Ensembl chrNW_004955435:18,941,936...18,996,200 		JBrowse link
G R Casq2 calsequestrin 2 ISO
ISS		 ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2
OMIM:611938		 OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:11704930 PMID:12034872 PMID:12386154 PMID:14571276 More... NCBI chr 2:192,214,556...192,270,821
Ensembl chr 2:189,525,960...189,582,267 		JBrowse link
G M Casq2 calsequestrin 2 ISO
IAGP		 ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2
OMIM:611938		 OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:11704930 PMID:12034872 PMID:12386154 PMID:14571276 More... NCBI chr 3:101,993,731...102,053,830
Ensembl chr 3:101,993,731...102,053,830 		JBrowse link
G H CASQ2 calsequestrin 2 IAGP
ISS		 ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2
OMIM:611938		 ClinVar
MouseDO
OMIM		 PMID:9536098 PMID:11704930 PMID:12034872 PMID:12386154 PMID:14571276 More... NCBI chr 1:115,700,021...115,768,714
Ensembl chr 1:115,698,038...115,837,921 		JBrowse link
G N Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 ClinVar NCBI chrNW_004624775:12,954,653...13,650,449
Ensembl chrNW_004624775:12,956,042...13,419,381 		JBrowse link
G G RYR2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 ClinVar NCBI chr25:74,169,024...74,951,371
Ensembl chr25:74,389,122...74,953,451 		JBrowse link
G P RYR2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 ClinVar NCBI chr14:53,652,140...54,406,691
Ensembl chr14:53,652,485...54,192,063 		JBrowse link
G S Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 ClinVar NCBI chrNW_004936484:15,402,488...15,825,410
Ensembl chrNW_004936484:15,403,819...15,824,441 		JBrowse link
G D RYR2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 ClinVar NCBI chr 4:2,371,868...2,908,132
Ensembl chr 4:2,373,114...2,907,875 		JBrowse link
G B RYR2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 ClinVar NCBI chr 1:212,600,198...213,387,312
Ensembl chr 1:217,815,676...218,383,509 		JBrowse link
G C Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 ClinVar NCBI chrNW_004955492:2,647,597...3,275,512
Ensembl chrNW_004955492:2,648,956...3,076,509 		JBrowse link
G R Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 ClinVar NCBI chr17:63,081,527...63,667,141
Ensembl chr17:58,389,925...58,975,142 		JBrowse link
G M Ryr2 ryanodine receptor 2, cardiac ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 ClinVar NCBI chr13:11,567,985...12,121,831
Ensembl chr13:11,567,988...12,121,831 		JBrowse link
G H RYR2 ryanodine receptor 2 IAGP ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 ClinVar NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988 		JBrowse link
G N Vangl1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 ClinVar PMID:24033266 PMID:25741868 PMID:26196381 PMID:28492532 NCBI chrNW_004624772:11,401,277...11,453,870
Ensembl chrNW_004624772:11,401,660...11,448,569 		JBrowse link
G G VANGL1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 ClinVar PMID:24033266 PMID:25741868 PMID:26196381 PMID:28492532
G P VANGL1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 ClinVar PMID:24033266 PMID:25741868 PMID:26196381 PMID:28492532 NCBI chr 4:104,994,341...105,048,853
Ensembl chr 4:104,996,073...105,048,775 		JBrowse link
G S Vangl1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 ClinVar PMID:24033266 PMID:25741868 PMID:26196381 PMID:28492532 NCBI chrNW_004936627:942,570...992,081
Ensembl chrNW_004936627:942,483...992,071 		JBrowse link
G D VANGL1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 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
G B VANGL1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 ClinVar PMID:24033266 PMID:25741868 PMID:26196381 PMID:28492532 NCBI chr 1:86,865,983...86,922,175
Ensembl chr 1:121,921,934...121,970,552 		JBrowse link
G C Vangl1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 ClinVar PMID:24033266 PMID:25741868 PMID:26196381 PMID:28492532 NCBI chrNW_004955435:18,890,995...18,933,258
Ensembl chrNW_004955435:18,882,565...18,933,258 		JBrowse link
G R Vangl1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 ClinVar PMID:24033266 PMID:25741868 PMID:26196381 PMID:28492532 NCBI chr 2:192,277,762...192,326,151
Ensembl chr 2:189,589,229...189,637,619 		JBrowse link
G M Vangl1 VANGL planar cell polarity 1 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 ClinVar PMID:24033266 PMID:25741868 PMID:26196381 PMID:28492532 NCBI chr 3:102,060,899...102,112,012
Ensembl chr 3:102,060,899...102,112,009 		JBrowse link
G H VANGL1 VANGL planar cell polarity protein 1 IAGP ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 ClinVar PMID:24033266 PMID:25741868 PMID:26196381 PMID:28492532 NCBI chr 1:115,641,970...115,698,221
Ensembl chr 1:115,641,970...115,698,224 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    Developmental Disease 170851
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 156678
        genetic disease 151803
          monogenic disease 118451
            catecholaminergic polymorphic ventricular tachycardia 315
              catecholaminergic polymorphic ventricular tachycardia 2 30
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      respiratory system disease 65925
        thoracic disease 47582
          heart disease 40850
            Cardiac Arrhythmias 9323
              Tachycardia 918
                Ventricular Tachycardia 624
                  catecholaminergic polymorphic ventricular tachycardia 315
                    catecholaminergic polymorphic ventricular tachycardia 2 30
paths to the root