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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:Ventricular Fibrillation, Paroxysmal Familial, 1
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Accession:DOID:9008112 term browser browse the term
Synonyms:exact_synonym: VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, TYPE 1;   VF1
 related_synonym: VF1 VENTRICULAR FIBRILLATION DURING MYOCARDIAL INFARCTION, SUSCEPTIBILITY
 primary_id: MESH:C567851;   RDO:0012065
 alt_id: OMIM:603829


show annotations for term's descendants           Sort by:
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 4:151,764,138...152,379,454
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 chr17:26,623,602...26,671,692
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:24033266 PMID:25351510 PMID:25363768 PMID:25741868 More... NCBI chr10:85,300,438...85,327,378
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 4:10,826,834...10,859,009
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 chr15:28,446,550...28,469,888
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 chr11:84,661,783...84,727,730
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 chr17:58,389,925...58,975,641
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:291807 PMID:461398 PMID:1309946 PMID:2107088 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 chr15:3,265,776...3,355,586
Ensembl chr15:3,265,815...3,355,606 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Pathologic Processes 7982
        Cardiac Arrhythmias 726
          Ventricular Fibrillation 43
            Paroxysmal Ventricular Fibrillation 14
              Ventricular Fibrillation, Paroxysmal Familial, 1 12
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      cardiovascular system disease 5404
        heart disease 3320
          Cardiac Arrhythmias 726
            Ventricular Fibrillation 43
              Paroxysmal Ventricular Fibrillation 14
                Ventricular Fibrillation, Paroxysmal Familial, 1 12
paths to the root