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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 ataxia type 1
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Accession:DOID:0050989 term browser browse the term
Definition:An episodic ataxia that is characterized by periodic ataxia and frequent myokymic discharges, and has_material_basis_in autosomal dominant inheritance of mutation in the potassium channel gene KCNA1. (DO)
Synonyms:exact_synonym: AEM;   AEMK;   EA1;   EAM;   episodic ataxia with myokymia;   hereditary paroxysmal ataxia with neuromyotonia;   myokymia with periodic ataxia
 narrow_synonym: ISAACS-MERTENS SYNDROME;   MYOKYMIA 1 WITH HYPOMAGNESEMIA;   MYOKYMIA 1 WITH OR WITHOUT HYPOMAGNESEMIA;   hereditary continuous muscle fiber activity;   myokymia with periodic ataxia 1
 primary_id: MESH:C563278
 alt_id: OMIM:160120


show annotations for term's descendants           Sort by:
episodic ataxia type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKAP3 A-kinase anchoring protein 3 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 5:65,788,744...65,816,031
Ensembl chr 5:65,797,376...65,819,765 		JBrowse link
G CCND2 cyclin D2 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 5:66,092,483...66,114,575
Ensembl chr 5:66,087,379...66,114,571 		JBrowse link
G DYRK4 dual specificity tyrosine phosphorylation regulated kinase 4 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 5:65,815,063...65,877,804
Ensembl chr 5:65,812,243...65,870,092 		JBrowse link
G FERRY3 FERRY endosomal RAB5 effector complex subunit 3 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 5:65,896,750...65,944,183
Ensembl chr 5:65,897,537...65,944,179 		JBrowse link
G FGF23 fibroblast growth factor 23 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 5:66,028,591...66,038,078
Ensembl chr 5:66,028,776...66,038,740 		JBrowse link
G FGF6 fibroblast growth factor 6 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 5:65,975,807...65,990,035
Ensembl chr 5:65,975,838...65,990,029 		JBrowse link
G GALNT8 polypeptide N-acetylgalactosaminyltransferase 8 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 5:65,697,120...65,735,521
Ensembl chr 5:65,696,868...65,735,536 		JBrowse link
G KCNA1 potassium voltage-gated channel subfamily A member 1 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 | ClinVar Annotator: match by term: Myokymia 1 with hypomagnesemia | ClinVar Annotator: match by term: PAROXYSMAL ATAXIA WITH NEUROMYOTONIA, HEREDITARY OMIM
ClinVar		 PMID:7842011 PMID:8541859 PMID:8845167 PMID:9526001 PMID:9600245 More... NCBI chr 5:65,556,837...65,565,880
Ensembl chr 5:65,561,962...65,565,116 		JBrowse link
G KCNA5 potassium voltage-gated channel subfamily A member 5 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:21858020 PMID:28492532 NCBI chr 5:65,439,336...65,442,207
Ensembl chr 5:65,439,336...65,442,207 		JBrowse link
G KCNA6 potassium voltage-gated channel subfamily A member 6 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 5:65,625,581...65,659,557
Ensembl chr 5:65,657,225...65,658,835 		JBrowse link
G NDUFA9 NADH:ubiquinone oxidoreductase subunit A9 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 5:65,760,078...65,788,703
Ensembl chr 5:65,759,727...65,788,646 		JBrowse link
G NTF3 neurotrophin 3 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 5:65,052,608...65,122,645
Ensembl chr 5:65,052,519...65,123,788 		JBrowse link
G RAD51AP1 RAD51 associated protein 1 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 5:65,872,277...65,897,210
Ensembl chr 5:65,872,539...65,897,212 		JBrowse link
G TIGAR TP53 induced glycolysis regulatory phosphatase ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 5:66,044,679...66,067,571
Ensembl chr 5:66,044,686...66,067,377 		JBrowse link
G VWF von Willebrand factor ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 5:64,516,627...64,655,938
Ensembl chr 5:64,519,186...65,002,452 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      nervous system disease 12960
        Neurologic Manifestations 9418
          Neuromuscular Manifestations 767
            Myokymia 18
              episodic ataxia type 1 15
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      nervous system disease 12960
        central nervous system disease 11610
          brain disease 10899
            movement disease 2451
              Dyskinesias 2091
                Ataxia 910
                  hereditary ataxia 617
                    episodic ataxia 97
                      episodic ataxia type 1 15
paths to the root