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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
For additional species annotation, visit the Alliance of Genome Resources.



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 4:159,688,049...159,714,067
Ensembl chr 4:159,699,289...159,713,903
JBrowse link
G Ano2 anoctamin 2 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 4:158,514,200...158,855,639
Ensembl chr 4:158,496,014...158,855,651
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 4:159,715,658...159,757,660
Ensembl chr 4:159,715,417...159,757,627
JBrowse link
G Fgf23 fibroblast growth factor 23 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 4:159,914,393...159,922,073
Ensembl chr 4:159,914,272...159,923,821
JBrowse link
G Fgf6 fibroblast growth factor 6 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 4:159,854,913...159,863,447
Ensembl chr 4:159,854,913...159,863,447
JBrowse link
G Galnt8 polypeptide N-acetylgalactosaminyltransferase 8 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 4:159,626,438...159,650,327 JBrowse link
G Kcna1 potassium voltage-gated channel subfamily A member 1 ISO
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 1
ClinVar Annotator: match by OMIM:160120
ClinVar Annotator: match by term: Myokymia 1 with hypomagnesemia
OMIM
ClinVar
RGD
PMID:7842011 PMID:8541859 PMID:8845167 PMID:9526001 PMID:9600245 More... RGD:10047237 NCBI chr 4:159,464,223...159,472,905
Ensembl chr 4:159,464,188...159,472,682
JBrowse link
G Kcna1Adms potassium voltage-gated channel subfamily A member 1;autosomal dominant myokymia and seizures IAGP RGD PMID:22206926 RGD:10047237
G Kcna5 potassium voltage-gated channel subfamily A member 5 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 4:159,354,689...159,358,173
Ensembl chr 4:159,350,097...159,357,697
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 4:159,542,941...159,576,189
Ensembl chr 4:159,542,615...159,576,189
JBrowse link
G Ndufa9 NADH:ubiquinone oxidoreductase subunit A9 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 4:159,659,242...159,688,034
Ensembl chr 4:159,659,242...159,688,018
JBrowse link
G Ntf3 neurotrophin 3 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 4:158,914,984...158,984,453
Ensembl chr 4:158,914,957...158,984,596
JBrowse link
G Rad51ap1 RAD51 associated protein 1 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 4:159,759,454...159,772,524
Ensembl chr 4:159,759,459...159,772,524
JBrowse link
G RGD1311164 similar to DNA segment, Chr 6, Wayne State University 163, expressed ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 4:159,772,693...159,809,322
Ensembl chr 4:159,772,786...159,806,382
JBrowse link
G Vwf von Willebrand factor ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      nervous system disease 12209
        Neurologic Manifestations 5497
          Neuromuscular Manifestations 451
            Myokymia 19
              episodic ataxia type 1 16
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      nervous system disease 12209
        central nervous system disease 10477
          brain disease 9840
            movement disease 1416
              Dyskinesias 1078
                Ataxia 510
                  hereditary ataxia 368
                    episodic ataxia 34
                      episodic ataxia type 1 16
paths to the root