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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:episodic kinesigenic dyskinesia 1
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Accession:DOID:0090053 term browser browse the term
Definition:A dystonia characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the proline-rich transmembrane protein 2 gene (PRRT2) on chromosome 16p11. (DO)
Synonyms:exact_synonym: DYT10;   EKD1;   Familial Paroxysmal Dystonia;   Familial Paroxysmal Kinesigenic Dyskinesia;   PKC;   PKD;   Paroxysmal kinesigenic choreoathetosis;   dystonia 10;   paroxysmal kinesigenic dyskinesia
 primary_id: MESH:C537180
 alt_id: OMIM:128200
 xref: GARD:8721;   NCI:C178413;   ORDO:98809
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
episodic kinesigenic dyskinesia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:23363396 PMID:24811917 PMID:28492532 NCBI chr 1:198,228,387...198,233,988
Ensembl chr 1:198,228,387...198,233,588
JBrowse link
G Asphd1 aspartate beta-hydroxylase domain containing 1 ISO ClinVar Annotator: match by term: Dystonia 10
ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia
ClinVar PMID:22515636 PMID:23363396 PMID:24811917 PMID:28492532 NCBI chr 1:198,379,060...198,382,982
Ensembl chr 1:198,379,022...198,382,614
JBrowse link
G Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase ISO ClinVar Annotator: match by term: Dystonia 10
ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia
ClinVar PMID:22515636 PMID:23363396 PMID:24811917 PMID:28492532 NCBI chr 1:198,409,186...198,413,497
Ensembl chr 1:198,409,360...198,413,497
JBrowse link
G Coro1a coronin 1A ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:23363396 PMID:24811917 PMID:28492532 NCBI chr 1:198,123,883...198,128,890
Ensembl chr 1:198,123,884...198,128,857
JBrowse link
G Doc2a double C2 domain alpha ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:23363396 PMID:24811917 PMID:28492532 NCBI chr 1:198,282,828...198,288,611
Ensembl chr 1:198,284,473...198,288,113
JBrowse link
G Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:23363396 PMID:24811917 PMID:28492532 NCBI chr 1:198,199,032...198,209,178
Ensembl chr 1:198,199,622...198,209,150
JBrowse link
G Hirip3 HIRA interacting protein 3 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:23363396 PMID:24811917 PMID:28492532 NCBI chr 1:198,298,138...198,301,164
Ensembl chr 1:198,298,138...198,301,161
JBrowse link
G Ino80e INO80 complex subunit E ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:23363396 PMID:24811917 PMID:28492532 NCBI chr 1:198,287,489...198,298,076
Ensembl chr 1:198,287,490...198,298,076
JBrowse link
G Kcna1 potassium voltage-gated channel subfamily A member 1 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:25741868 NCBI chr 4:159,190,781...159,192,526
Ensembl chr 4:159,190,804...159,192,526
JBrowse link
G Kctd13 potassium channel tetramerization domain containing 13 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:23363396 PMID:24811917 PMID:28492532 NCBI chr 1:198,360,627...198,378,935
Ensembl chr 1:198,360,627...198,378,934
JBrowse link
G Kif22 kinesin family member 22 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:23363396 PMID:24811917 PMID:28492532 NCBI chr 1:198,461,406...198,476,430
Ensembl chr 1:198,461,169...198,476,476
JBrowse link
G Mapk3 mitogen activated protein kinase 3 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:23363396 PMID:24811917 PMID:28492532 NCBI chr 1:198,192,773...198,198,975
Ensembl chr 1:198,192,773...198,198,975
JBrowse link
G Maz MYC associated zinc finger protein ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:23363396 PMID:24811917 PMID:28492532 NCBI chr 1:198,456,699...198,460,126
Ensembl chr 1:198,456,699...198,460,126
JBrowse link
G Mvp major vault protein ISO ClinVar Annotator: match by term: Dystonia 10
ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia
ClinVar PMID:22515636 PMID:23363396 PMID:24811917 PMID:28492532 NCBI chr 1:198,420,813...198,448,612
Ensembl chr 1:198,420,806...198,450,047
JBrowse link
G Pagr1 Paxip1-associated glutamate-rich protein 1 ISO ClinVar Annotator: match by term: Dystonia 10
ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia
ClinVar PMID:22515636 PMID:23363396 PMID:24811917 PMID:28492532 NCBI chr 1:198,448,790...198,451,078
Ensembl chr 1:198,449,040...198,450,688
JBrowse link
G Ppp4c protein phosphatase 4, catalytic subunit ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:23363396 PMID:24811917 PMID:28492532 NCBI chr 1:198,219,012...198,225,775
Ensembl chr 1:198,219,054...198,225,580
JBrowse link
G Prrt2 proline-rich transmembrane protein 2 ISO ClinVar Annotator: match by OMIM:128200
ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia
ClinVar Annotator: match by term: Familial Paroxysmal Kinesigenic Dyskinesia
ClinVar Annotator: match by term: Dystonia 10
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:9536098 PMID:11179027 PMID:11346027 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19914906 PMID:22101681 PMID:22120146 PMID:22131361 PMID:22209761 PMID:22243967 PMID:22399141 PMID:22464846 PMID:22515636 PMID:22623405 PMID:22744660 PMID:22752065 PMID:22782515 PMID:22832103 PMID:22845787 PMID:22870186 PMID:22875091 PMID:22877996 PMID:22895590 PMID:22902309 PMID:22985072 PMID:23063574 PMID:23077016 PMID:23077017 PMID:23077024 PMID:23077026 PMID:23126439 PMID:23180180 PMID:23182655 PMID:23190448 PMID:23299620 PMID:23352743 PMID:23363396 PMID:23436308 PMID:23456995 PMID:23496026 PMID:23529024 PMID:23551744 PMID:23566103 PMID:23768507 PMID:23771590 PMID:24074546 PMID:24370076 PMID:24372385 PMID:24465263 PMID:24594579 PMID:24661410 PMID:24755245 PMID:24811917 PMID:24828792 PMID:25167861 PMID:25421402 PMID:25449067 PMID:25502464 PMID:25522171 PMID:25667652 PMID:25741868 PMID:25915028 PMID:26446061 PMID:26467025 PMID:26598493 PMID:26598494 PMID:26629640 PMID:26742926 PMID:26936445 PMID:26944167 PMID:27123484 PMID:27172900 PMID:27173777 PMID:28074849 PMID:28166811 PMID:28492532 PMID:28525812 PMID:28906077 PMID:29132464 PMID:29215089 PMID:29285950 PMID:29334453 PMID:29801903 PMID:30386286 PMID:30392205 PMID:30980674 PMID:31124310 PMID:32038460 NCBI chr 1:198,451,042...198,454,998
Ensembl chr 1:198,451,324...198,454,914
JBrowse link
G RGD1563217 similar to RIKEN cDNA 4930451I11 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:23363396 PMID:24811917 PMID:28492532 NCBI chr 1:198,260,711...198,268,056
Ensembl chr 1:198,266,108...198,267,093
JBrowse link
G Sez6l2 seizure related 6 homolog like 2 ISO ClinVar Annotator: match by term: Dystonia 10
ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia
ClinVar PMID:22515636 PMID:23363396 PMID:24811917 PMID:28492532 NCBI chr 1:198,383,201...198,403,544
Ensembl chr 1:198,383,201...198,403,544
JBrowse link
G Taok2 TAO kinase 2 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:23363396 PMID:24811917 PMID:28492532 NCBI chr 1:198,301,789...198,354,601
Ensembl chr 1:198,301,938...198,320,075
JBrowse link
G Tbx6 T-box transcription factor 6 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:23363396 PMID:24811917 PMID:28492532 NCBI chr 1:198,214,797...198,218,706
Ensembl chr 1:198,214,797...198,218,706
JBrowse link
G Tlcd3b TLC domain containing 3B ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:23363396 PMID:24811917 PMID:28492532 NCBI chr 1:198,252,208...198,265,840
Ensembl chr 1:198,259,496...198,265,839
JBrowse link
G Tmem219 transmembrane protein 219 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:23363396 PMID:24811917 PMID:28492532 NCBI chr 1:198,322,276...198,360,552
Ensembl chr 1:198,324,857...198,354,466
JBrowse link
G Ypel3 yippee-like 3 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:23363396 PMID:24811917 PMID:28492532 NCBI chr 1:198,210,525...198,213,821
Ensembl chr 1:198,210,525...198,213,816
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      nervous system disease 12073
        Neurologic Manifestations 5406
          Dyskinesias 1020
            dystonia 187
              episodic kinesigenic dyskinesia 1 24
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      nervous system disease 12073
        central nervous system disease 10352
          brain disease 9711
            movement disease 1352
              Dyskinesias 1020
                dystonia 187
                  episodic kinesigenic dyskinesia 1 24
paths to the root