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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:Paroxysmal Ventricular Fibrillation
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Accession:DOID:9004416 term browser browse the term
Synonyms:exact_synonym: Idiopathic ventricular fibrillation;   Paroxysmal familial ventricular fibrillation
 narrow_synonym: TO
 primary_id: MESH:C537182;   RDO:0002970


show annotations for term's descendants           Sort by:
Paroxysmal Ventricular Fibrillation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Paroxysmal familial ventricular fibrillation ClinVar PMID:20817017 PMID:24033266 PMID:25637381 PMID:25741868 PMID:28492532 NCBI chr17:82,473,097...82,818,564
Ensembl chr17:77,564,460...77,909,106 		JBrowse link
G Dpp6 dipeptidyl peptidase like 6 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19285295 RGD:5687186 NCBI chr 4:7,589,386...8,508,666
Ensembl chr 4:7,591,009...8,508,532 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Paroxysmal familial ventricular fibrillation ClinVar PMID:25741868 PMID:28492532 NCBI chr17:26,829,153...26,877,419
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Paroxysmal familial ventricular fibrillation ClinVar PMID:23703017 PMID:25256213 PMID:25481314 PMID:28492532 NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Paroxysmal familial ventricular fibrillation ClinVar PMID:25741868 PMID:28492532 PMID:34949103 NCBI chr17:63,081,527...63,667,141
Ensembl chr17:58,389,925...58,975,142 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Paroxysmal familial ventricular fibrillation | ClinVar Annotator: match by term: Paroxysmal ventricular fibrillation		 CTD
ClinVar		 PMID:16453024 PMID:20110800 PMID:24033266 PMID:25741868 PMID:26467025 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769 		JBrowse link
Ventricular Fibrillation, Paroxysmal Familial, 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 ClinVar PMID:15863612 PMID:21685391 PMID:23979604 PMID:24773605 PMID:25691416 More... NCBI chr 4:153,431,169...154,051,932
Ensembl chr 4:151,764,138...152,379,648 		JBrowse link
G Dpp6 dipeptidyl peptidase like 6 ISO ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 ClinVar PMID:25741868 NCBI chr 4:7,589,386...8,508,666
Ensembl chr 4:7,591,009...8,508,532 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 ClinVar PMID:28492532 NCBI chr17:26,829,153...26,877,419
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 ClinVar PMID:20864495 PMID:23396983 PMID:24033266 PMID:25351510 PMID:25363768 More... NCBI chr10:85,800,812...85,827,881
Ensembl chr10:85,300,440...85,327,057 		JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:11,719,357...11,751,424
Ensembl chr 4:10,826,928...10,859,008 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 ClinVar PMID:18414213 PMID:20474083 PMID:23233322 PMID:24033266 PMID:25741868 More... NCBI chr15:32,416,525...32,439,851
Ensembl chr15:28,446,550...28,468,217 		JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr11:98,165,974...98,231,916
Ensembl chr11:84,661,783...84,727,730 		JBrowse link
G Rbm20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:252,683,760...252,907,465
Ensembl chr 1:252,683,771...252,886,060 		JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 ClinVar PMID:24033266 PMID:25741868 PMID:28404607 PMID:28492532 NCBI chr17:63,081,527...63,667,141
Ensembl chr17:58,389,925...58,975,142 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 ClinVar
OMIM		 PMID:235469 PMID:235504 PMID:291807 PMID:461398 PMID:748006 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769 		JBrowse link
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 ClinVar PMID:28492532 NCBI chr 3:142,876,285...142,906,737
Ensembl chr 3:142,876,296...142,906,709 		JBrowse link
G Vcl vinculin ISO ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 ClinVar NCBI chr15:3,315,069...3,404,891
Ensembl chr15:3,265,815...3,355,606 		JBrowse link
Ventricular Fibrillation, Paroxysmal Familial, 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpp6 dipeptidyl peptidase like 6 ISO ClinVar Annotator: match by term: DPP6-related condition | ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, 2 OMIM
ClinVar		 PMID:19285295 PMID:25741868 NCBI chr 4:7,589,386...8,508,666
Ensembl chr 4:7,591,009...8,508,532 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    Pathological Conditions, Signs and Symptoms 13617
      Pathologic Processes 8330
        Cardiac Arrhythmias 779
          Ventricular Fibrillation 43
            Paroxysmal Ventricular Fibrillation 14
              Ventricular Fibrillation, Paroxysmal Familial, 1 12
              Ventricular Fibrillation, Paroxysmal Familial, 2 1
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      respiratory system disease 5248
        thoracic disease 4054
          heart disease 3482
            Cardiac Arrhythmias 779
              Ventricular Fibrillation 43
                Paroxysmal Ventricular Fibrillation 14
                  Ventricular Fibrillation, Paroxysmal Familial, 1 12
                  Ventricular Fibrillation, Paroxysmal Familial, 2 1
paths to the root