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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:Familial Ventricular Tachycardia
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Accession:DOID:9007215 term browser browse the term
Synonyms:exact_synonym: familial polymorphic ventricular tachycardia;   polymorphic ventricular tachycardia
 primary_id: OMIM:192605
 alt_id: RDO:0008196


show annotations for term's descendants           Sort by:
Familial Ventricular Tachycardia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr 4:30,056,738...30,192,716
Ensembl chr 4:30,056,738...30,192,606 		JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia ClinVar PMID:25260352 PMID:25633834 PMID:25741868 PMID:28492532 PMID:30847666 NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648 		JBrowse link
G Calm1 calmodulin 1 ISO ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia ClinVar PMID:23040497 PMID:24563457 PMID:24816216 PMID:25557436 PMID:25741868 More... NCBI chr 6:119,487,691...119,495,759
Ensembl chr 6:119,487,621...119,498,227 		JBrowse link
G Casq2 calsequestrin 2 ISO ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia
ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Polymorphic ventricular tachycardia		 ClinVar PMID:9536098 PMID:12034872 PMID:12386154 PMID:14571276 PMID:16199547 More... NCBI chr 2:189,526,003...189,582,276
Ensembl chr 2:189,525,960...189,582,267 		JBrowse link
G Gnai2 G protein subunit alpha i2 ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr 8:108,288,401...108,309,009
Ensembl chr 8:108,288,401...108,308,979 		JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Polymorphic ventricular tachycardia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669 		JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Polymorphic ventricular tachycardia ClinVar PMID:11159936 PMID:12106942 PMID:12459180 PMID:15131021 PMID:15364606 More... NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142 		JBrowse link
G Trdn triadin ISO ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia ClinVar PMID:28492532 NCBI chr 1:23,955,651...24,410,494
Ensembl chr 1:23,955,651...24,410,595 		JBrowse link
G Vangl1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:189,586,681...189,637,609
Ensembl chr 2:189,589,229...189,637,619 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13332
      Pathologic Processes 7983
        Cardiac Arrhythmias 726
          Tachycardia 87
            Ventricular Tachycardia 61
              Familial Ventricular Tachycardia 9
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      cardiovascular system disease 5404
        heart disease 3320
          Cardiac Arrhythmias 726
            Tachycardia 87
              Ventricular Tachycardia 61
                Familial Ventricular Tachycardia 9
paths to the root