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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;   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 Asphd1 aspartate beta-hydroxylase domain containing 1 ISO ClinVar Annotator: match by term: Dystonia 10 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 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 Mvp major vault protein ISO ClinVar Annotator: match by term: Dystonia 10 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 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 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 dystonia
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:11179027, PMID:11346027, 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:23343561, PMID:23352743, PMID:23363396, PMID:23436308, PMID:23456995, PMID:23496026, PMID:23529024, PMID:23532549, PMID:23535490, PMID:23551744, PMID:23566103, PMID:23768507, PMID:23771590, PMID:24074546, PMID:24370076, PMID:24372385, PMID:24465263, PMID:24594579, PMID:24609974, PMID:24661410, PMID:24755245, PMID:24811917, PMID:25167861, PMID:25421402, PMID:25457817, PMID:25502464, PMID:25522171, PMID:25595153, PMID:25667652, PMID:25741868, PMID:25915028, PMID:26384010, PMID:26446061, PMID:26467025, PMID:26544041, PMID:26561923, PMID:26598493, PMID:26598494, PMID:26621826, PMID:26629640, PMID:26717662, PMID:26742926, PMID:26876767, PMID:26944167, PMID:26993267, PMID:27123484, PMID:27172900, PMID:27173777, PMID:28074849, PMID:28492532, PMID:28525812, PMID:29285950, PMID:29334453, PMID:29801903, PMID:30311386, PMID:30386286, PMID:30980674 NCBI chr 1:198,451,042...198,454,998
Ensembl chr 1:198,451,324...198,454,914
JBrowse link
G Sez6l2 seizure related 6 homolog like 2 ISO ClinVar Annotator: match by term: Dystonia 10 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        Neurologic Manifestations 4137
          Dyskinesias 867
            dystonia 161
              episodic kinesigenic dyskinesia 1 6
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          brain disease 8330
            movement disease 1156
              Dyskinesias 867
                dystonia 161
                  episodic kinesigenic dyskinesia 1 6
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.