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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
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Accession:DOID:9009225 term browser browse the term
Synonyms:xref: MIM:PS128200;   MONDO:0044202


show annotations for term's descendants           Sort by:
Episodic Kinesigenic Dyskinesia 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: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182 		JBrowse link
G Asphd1 aspartate beta-hydroxylase domain containing 1 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,552,968...181,556,902
Ensembl chr 1:181,552,884...181,556,090 		JBrowse link
G C1h16orf92 similar to human chromosome 16 open reading frame 92 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,434,524...181,441,000 JBrowse link
G Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,583,098...181,587,409
Ensembl chr 1:181,583,141...181,587,408 		JBrowse link
G Cdiptos CDIP transferase, opposite strand ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:23363396 PMID:24811917 PMID:28492532 NCBI chr 1:181,579,385...181,583,017
Ensembl chr 1:181,579,387...181,582,860 		JBrowse link
G Coro1a coronin 1A ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,295,561...181,300,566
Ensembl chr 1:181,295,562...181,300,534 		JBrowse link
G Doc2a double C2 domain alpha ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,457,415...181,462,528
Ensembl chr 1:181,458,390...181,462,030 		JBrowse link
G Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,373,505...181,383,063
Ensembl chr 1:181,366,626...181,383,063 		JBrowse link
G Hirip3 HIRA interacting protein 3 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,472,537...181,475,082
Ensembl chr 1:181,472,056...181,475,079 		JBrowse link
G Ino80e INO80 complex subunit E ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,461,406...181,472,059
Ensembl chr 1:181,461,408...181,472,469 		JBrowse link
G Kcna1 potassium voltage-gated channel subfamily A member 1 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:25741868 PMID:28492532 PMID:34305802 NCBI chr 4:159,464,223...159,472,905
Ensembl chr 4:159,464,188...159,472,682 		JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:25741868 NCBI chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461 		JBrowse link
G Kctd13 potassium channel tetramerization domain containing 13 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,534,534...181,552,843
Ensembl chr 1:181,534,515...181,552,881 		JBrowse link
G Kif22 kinesin family member 22 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,635,347...181,650,351
Ensembl chr 1:181,635,183...181,650,401 		JBrowse link
G Mapk3 mitogen activated protein kinase 3 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863 		JBrowse link
G Maz MYC associated zinc finger protein ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,629,742...181,635,193
Ensembl chr 1:181,629,729...181,650,408 		JBrowse link
G Mvp major vault protein ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,594,734...181,622,336
Ensembl chr 1:181,594,734...181,622,380 		JBrowse link
G Pagr1 Paxip1-associated glutamate-rich protein 1 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,622,698...181,625,024 JBrowse link
G Ppp4c protein phosphatase 4, catalytic subunit ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,392,899...181,399,703
Ensembl chr 1:181,392,923...181,399,659 		JBrowse link
G Prrt2 proline-rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2131349 PMID:2825199 PMID:9536098 PMID:11179027 PMID:11346027 More... NCBI chr 1:181,625,243...181,628,833
Ensembl chr 1:181,604,545...181,628,850 		JBrowse link
G Sez6l2 seizure related 6 homolog like 2 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,557,109...181,577,456
Ensembl chr 1:181,557,109...181,577,456 		JBrowse link
G Taok2 TAO kinase 2 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,475,708...181,494,738
Ensembl chr 1:181,475,711...181,494,613 		JBrowse link
G Tbx6 T-box transcription factor 6 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,387,851...181,392,762
Ensembl chr 1:181,388,684...181,392,593 		JBrowse link
G Tlcd3b TLC domain containing 3B ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,421,104...181,439,744
Ensembl chr 1:181,422,830...181,439,743 		JBrowse link
G Tmem219 transmembrane protein 219 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,496,195...181,509,259
Ensembl chr 1:181,496,192...181,534,472 		JBrowse link
G Ypel3 yippee-like 3 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,384,385...181,387,706
Ensembl chr 1:181,384,357...181,387,705 		JBrowse link
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:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182 		JBrowse link
G Asphd1 aspartate beta-hydroxylase domain containing 1 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,552,968...181,556,902
Ensembl chr 1:181,552,884...181,556,090 		JBrowse link
G C1h16orf92 similar to human chromosome 16 open reading frame 92 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,434,524...181,441,000 JBrowse link
G Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,583,098...181,587,409
Ensembl chr 1:181,583,141...181,587,408 		JBrowse link
G Coro1a coronin 1A ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,295,561...181,300,566
Ensembl chr 1:181,295,562...181,300,534 		JBrowse link
G Doc2a double C2 domain alpha ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,457,415...181,462,528
Ensembl chr 1:181,458,390...181,462,030 		JBrowse link
G Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,373,505...181,383,063
Ensembl chr 1:181,366,626...181,383,063 		JBrowse link
G Hirip3 HIRA interacting protein 3 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,472,537...181,475,082
Ensembl chr 1:181,472,056...181,475,079 		JBrowse link
G Ino80e INO80 complex subunit E ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,461,406...181,472,059
Ensembl chr 1:181,461,408...181,472,469 		JBrowse link
G Kctd13 potassium channel tetramerization domain containing 13 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,534,534...181,552,843
Ensembl chr 1:181,534,515...181,552,881 		JBrowse link
G Kif22 kinesin family member 22 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,635,347...181,650,351
Ensembl chr 1:181,635,183...181,650,401 		JBrowse link
G Mapk3 mitogen activated protein kinase 3 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863 		JBrowse link
G Maz MYC associated zinc finger protein ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,629,742...181,635,193
Ensembl chr 1:181,629,729...181,650,408 		JBrowse link
G Mvp major vault protein ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,594,734...181,622,336
Ensembl chr 1:181,594,734...181,622,380 		JBrowse link
G Pagr1 Paxip1-associated glutamate-rich protein 1 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,622,698...181,625,024 JBrowse link
G Ppp4c protein phosphatase 4, catalytic subunit ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,392,899...181,399,703
Ensembl chr 1:181,392,923...181,399,659 		JBrowse link
G Prrt2 proline-rich transmembrane protein 2 ISO
ISS		 ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia 1 | ClinVar Annotator: match by term: Familial Paroxysmal Kinesigenic Dyskinesia | ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia
OMIM:128200
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:2131349 PMID:2825199 PMID:11179027 PMID:11346027 PMID:14615364 More... NCBI chr 1:181,625,243...181,628,833
Ensembl chr 1:181,604,545...181,628,850 		JBrowse link
G Sez6l2 seizure related 6 homolog like 2 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,557,109...181,577,456
Ensembl chr 1:181,557,109...181,577,456 		JBrowse link
G Taok2 TAO kinase 2 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,475,708...181,494,738
Ensembl chr 1:181,475,711...181,494,613 		JBrowse link
G Tbx6 T-box transcription factor 6 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,387,851...181,392,762
Ensembl chr 1:181,388,684...181,392,593 		JBrowse link
G Tlcd3b TLC domain containing 3B ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,421,104...181,439,744
Ensembl chr 1:181,422,830...181,439,743 		JBrowse link
G Tmem219 transmembrane protein 219 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,496,195...181,509,259
Ensembl chr 1:181,496,192...181,534,472 		JBrowse link
G Ypel3 yippee-like 3 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,384,385...181,387,706
Ensembl chr 1:181,384,357...181,387,705 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      nervous system disease 14336
        Neurologic Manifestations 10421
          Dyskinesias 2229
            dystonia 503
              Episodic Kinesigenic Dyskinesia 26
                episodic kinesigenic dyskinesia 1 23
                episodic kinesigenic dyskinesia 2 0
Path 2
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      nervous system disease 14336
        central nervous system disease 12608
          brain disease 11837
            movement disease 2627
              Dyskinesias 2229
                dystonia 503
                  Episodic Kinesigenic Dyskinesia 26
                    episodic kinesigenic dyskinesia 1 23
                    episodic kinesigenic dyskinesia 2 0
paths to the root