ONTOLOGY REPORT - ANNOTATIONS


Term:episodic ataxia
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Accession:DOID:963 term browser browse the term
Definition:A hereditary ataxia characterized by sporadic bouts of ataxia with or without continuous muscle movement. (DO)
Synonyms:primary_id: MESH:C580065
 alt_id: RDO:0015885
 xref: GARD:9851;   OMIM:PS160120;   ORDO:211062
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episodic ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1a calcium voltage-gated channel subunit alpha1 A JBrowse link 19 25,453,236 25,749,550 RGD:8554872
G Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 JBrowse link 3 37,950,846 38,211,478 RGD:734674
RGD:8554872
G Kcna1 potassium voltage-gated channel subfamily A member 1 JBrowse link 4 159,190,781 159,192,526 RGD:8554872
G Scn2a sodium voltage-gated channel alpha subunit 2 JBrowse link 3 51,687,910 51,822,008 RGD:8554872
G Slc1a3 solute carrier family 1 member 3 JBrowse link 2 57,860,881 57,935,363 RGD:8554872
episodic ataxia type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcna1 potassium voltage-gated channel subfamily A member 1 JBrowse link 4 159,190,781 159,192,526 RGD:7240710
RGD:8554872
RGD:10047237
G Kcna1Adms potassium voltage-gated channel subfamily A member 1;autosomal dominant myokymia and seizures RGD:10047237
episodic ataxia type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1a calcium voltage-gated channel subunit alpha1 A JBrowse link 19 25,453,236 25,749,550 RGD:1358446
RGD:8554872
RGD:11554173
RGD:7240710
episodic ataxia type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 JBrowse link 3 37,950,846 38,211,478 RGD:7240710
RGD:8554872
episodic ataxia type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc1a3 solute carrier family 1 member 3 JBrowse link 2 57,860,881 57,935,363 RGD:7240710
RGD:8554872
Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nalcn sodium leak channel, non-selective JBrowse link 15 109,734,092 110,046,729 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        neurodegenerative disease 2091
          hereditary ataxia 142
            episodic ataxia 8
              Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis 1
              episodic ataxia type 1 3
              episodic ataxia type 2 1
              episodic ataxia type 3 0
              episodic ataxia type 4 0
              episodic ataxia type 5 1
              episodic ataxia type 6 1
              episodic ataxia type 7 0
              episodic ataxia type 8 0
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        central nervous system disease 6908
          brain disease 6412
            movement disease 991
              Dyskinesias 711
                Ataxia 304
                  hereditary ataxia 142
                    episodic ataxia 8
                      Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis 1
                      episodic ataxia type 1 3
                      episodic ataxia type 2 1
                      episodic ataxia type 3 0
                      episodic ataxia type 4 0
                      episodic ataxia type 5 1
                      episodic ataxia type 6 1
                      episodic ataxia type 7 0
                      episodic ataxia type 8 0
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.