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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
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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:exact_synonym: HEREDITARY EPISODIC ATAXIA
 primary_id: MESH:C580065
 xref: EFO:1000638;   GARD:9851;   OMIM:PS160120;   ORDO:211062


show annotations for term's descendants           Sort by:
episodic ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Hereditary episodic ataxia ClinVar PMID:20129625 PMID:24498617 PMID:26467025 PMID:28492532 PMID:28566750 More... NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225 		JBrowse link
G Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 ISO ClinVar Annotator: match by term: Hereditary episodic ataxia ClinVar
RGD		 PMID:10762541 RGD:734674 NCBI chr 3:36,906,771...37,169,165
Ensembl chr 3:36,910,427...37,168,944 		JBrowse link
G Kcna1 potassium voltage-gated channel subfamily A member 1 ISO ClinVar Annotator: match by term: Hereditary episodic ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 4:159,464,223...159,472,905
Ensembl chr 4:159,464,188...159,472,682 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Hereditary episodic ataxia ClinVar PMID:12037327 PMID:20956790 PMID:25326637 PMID:26993267 PMID:27353043 NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214 		JBrowse link
G Slc1a3 solute carrier family 1 member 3 ISO ClinVar Annotator: match by term: Hereditary episodic ataxia ClinVar NCBI chr 2:57,755,495...57,830,605
Ensembl chr 2:57,755,497...57,830,605 		JBrowse link
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: Hereditary episodic ataxia ClinVar PMID:32581362 NCBI chr11:82,645,978...82,692,574
Ensembl chr11:82,645,974...82,692,574 		JBrowse link
episodic ataxia type 1 term browser
Symbol Object Name Qualifiers 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 Ccnd2 cyclin D2 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495 		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 Ferry3 FERRY endosomal RAB5 effector complex subunit 3 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 Fgf23 fibroblast growth factor 23 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 4:159,914,267...159,923,821
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
ISS
IAGP		 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:160120
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD
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:21858020 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...159,772,473
Ensembl chr 4:159,759,459...159,772,524 		JBrowse link
G Tigar TP53 induced glycolysis regulatory phosphatase ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 4:159,927,136...159,946,077
Ensembl chr 4:159,927,139...159,946,029 		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
episodic ataxia type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp5 acid phosphatase 5, tartrate resistant ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:20,663,984...20,670,604
Ensembl chr 8:20,663,985...20,667,929 		JBrowse link
G Angptl8 angiopoietin-like 8 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:20,376,462...20,378,488
Ensembl chr 8:20,376,462...20,378,490 		JBrowse link
G Best2 bestrophin 2 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,142,324...23,148,351
Ensembl chr19:23,141,602...23,148,339 		JBrowse link
G C8h19orf38 similar to human chromosome 19 open reading frame 38 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:20,061,494...20,095,705
Ensembl chr 8:20,078,639...20,095,696 		JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO
ISS		 ClinVar Annotator: match by term: Cerebellar ataxia, paroxysmal, Acetazolamide-responsive | ClinVar Annotator: match by term: Episodic ataxia type 2 | ClinVar Annotator: match by term: Episodic ataxia, type 2, and epilepsy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebellar ataxia, paroxysmal, Acetazolamide-responsive | ClinVar Annotator: match by term: Episodic ataxia type 2 | ClinVar Annotator: match by term: Episodic ataxia with nystagmus | ClinVar Annotator: match by term: Episodic ataxia, type 2, and epilepsy
OMIM:108500		 ClinVar
OMIM
CTD
MouseDO
RGD		 PMID:1849839 PMID:8734765 PMID:8898206 PMID:9005860 PMID:9329229 More... RGD:1358446 NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225 		JBrowse link
G Calr calreticulin ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414 		JBrowse link
G Carm1 coactivator-associated arginine methyltransferase 1 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:20,097,262...20,141,950
Ensembl chr 8:20,097,254...20,147,689 		JBrowse link
G Ccdc159 coiled-coil domain containing 159 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:20,457,905...20,467,232
Ensembl chr 8:20,457,909...20,466,562 		JBrowse link
G Cnn1 calponin 1 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:20,632,434...20,641,097
Ensembl chr 8:20,632,338...20,641,098 		JBrowse link
G Dand5 DAN domain BMP antagonist family member 5 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,330,917...23,340,486
Ensembl chr19:23,334,164...23,339,589 		JBrowse link
G Dhps deoxyhypusine synthase ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,082,454...23,086,544
Ensembl chr19:23,082,448...23,086,881 		JBrowse link
G Dnase2 deoxyribonuclease 2, lysosomal ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,244,656...23,247,376
Ensembl chr19:23,244,664...23,247,376 		JBrowse link
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157 		JBrowse link
G Dock6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:20,342,430...20,394,660
Ensembl chr 8:20,342,089...20,394,552 		JBrowse link
G Ecsit ECSIT signaling integrator ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:20,605,583...20,618,453
Ensembl chr 8:20,605,583...20,618,390 		JBrowse link
G Elavl3 ELAV like RNA binding protein 3 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:20,547,108...20,583,369
Ensembl chr 8:20,550,201...20,583,641 		JBrowse link
G Elof1 elongation factor 1 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:20,645,336...20,650,888
Ensembl chr 8:20,645,336...20,650,579 		JBrowse link
G Epor erythropoietin receptor ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257 		JBrowse link
G Farsa phenylalanyl-tRNA synthetase subunit alpha ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,291,409...23,300,985
Ensembl chr19:23,268,869...23,300,980 		JBrowse link
G Fbxw9 F-box and WD repeat domain containing 9 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,090,534...23,097,439
Ensembl chr19:23,090,534...23,097,439 		JBrowse link
G Gadd45gip1 GADD45G interacting protein 1 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,320,662...23,323,211
Ensembl chr19:23,320,159...23,323,236 		JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681 		JBrowse link
G Get3 guided entry of tail-anchored proteins factor 3, ATPase ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,130,109...23,138,196
Ensembl chr19:23,130,109...23,138,193 		JBrowse link
G Hook2 hook microtubule-tethering protein 2 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,151,869...23,170,139
Ensembl chr19:23,151,870...23,164,181 		JBrowse link
G Ier2 immediate early response 2 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,494,551...23,496,075
Ensembl chr19:23,494,184...23,499,211 		JBrowse link
G Junb JunB proto-oncogene, AP-1 transcription factor subunit ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,176,265...23,178,049
Ensembl chr19:23,176,294...23,178,035 		JBrowse link
G Kank2 KN motif and ankyrin repeat domains 2 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:20,311,676...20,341,107
Ensembl chr 8:20,311,676...20,340,900 		JBrowse link
G Klf1 KLF transcription factor 1 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,250,627...23,253,802
Ensembl chr19:23,250,631...23,253,758 		JBrowse link
G Ldlr low density lipoprotein receptor ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580 		JBrowse link
G LOC102546572 zinc finger protein 709-like ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 7:11,846,077...11,868,732
Ensembl chr 7:11,845,560...11,868,717 		JBrowse link
G Lyl1 LYL1, basic helix-loop-helix family member ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,452,140...23,455,007
Ensembl chr19:23,452,140...23,455,007 		JBrowse link
G Man2b1 mannosidase, alpha, class 2B, member 1 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,055,092...23,074,398
Ensembl chr19:23,055,097...23,074,389 		JBrowse link
G MAST1 microtubule associated serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,216,418...23,244,224
Ensembl chr19:23,207,991...23,244,235 		JBrowse link
G Nacc1 nucleus accumbens associated 1 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,468,688...23,486,528
Ensembl chr19:23,468,419...23,486,528 		JBrowse link
G Nfix nuclear factor I X ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,355,388...23,450,360
Ensembl chr19:23,355,498...23,448,265 		JBrowse link
G Odad3 outer dynein arm docking complex subunit 3 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:20,520,898...20,534,499
Ensembl chr 8:20,520,898...20,534,499 		JBrowse link
G Prdx2 peroxiredoxin 2 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,180,927...23,186,217
Ensembl chr19:23,180,930...23,186,194 		JBrowse link
G Prkcsh PRKCSH beta subunit of glucosidase II ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:20,534,787...20,546,493
Ensembl chr 8:20,534,880...20,546,492 		JBrowse link
G Rab3d RAB3D, member RAS oncogene family ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:20,438,622...20,449,269
Ensembl chr 8:20,439,294...20,449,185 		JBrowse link
G Rad23a RAD23 homolog A, nucleotide excision repair protein ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,313,563...23,320,702
Ensembl chr19:23,314,797...23,320,695 		JBrowse link
G Ralgdsl3 ral guanine nucleotide dissociation stimulator like 3 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:20,500,846...20,520,471
Ensembl chr 8:20,500,846...20,520,471 		JBrowse link
G Rnaseh2a ribonuclease H2, subunit A ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,186,325...23,196,045
Ensembl chr19:23,186,383...23,196,041 		JBrowse link
G Rtbdn retbindin ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,197,506...23,205,544
Ensembl chr19:23,197,506...23,204,438 		JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975 		JBrowse link
G Spc24 SPC24 component of NDC80 kinetochore complex ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:20,300,315...20,305,354
Ensembl chr 8:20,300,319...20,305,310 		JBrowse link
G Swsap1 SWIM-type zinc finger 7 associated protein 1 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:20,486,680...20,489,213
Ensembl chr 8:20,486,678...20,489,211 		JBrowse link
G Syce2 synaptonemal complex central element protein 2 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,266,236...23,291,265
Ensembl chr19:23,268,869...23,300,980 		JBrowse link
G Timm29 translocase of inner mitochondrial membrane 29 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:20,145,264...20,148,233 JBrowse link
G Tmed1 transmembrane p24 trafficking protein 1 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:20,059,937...20,063,567
Ensembl chr 8:20,059,892...20,063,677 		JBrowse link
G Tmem205 transmembrane protein 205 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:20,452,092...20,458,011
Ensembl chr 8:20,452,092...20,457,828 		JBrowse link
G Tnpo2 transportin 2 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,099,398...23,119,696
Ensembl chr19:23,099,401...23,119,596 		JBrowse link
G Trir telomerase RNA component interacting RNase ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,125,083...23,128,502
Ensembl chr19:23,125,083...23,128,510 		JBrowse link
G Trmt1 tRNA methyltransferase 1 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,456,756...23,471,581
Ensembl chr19:23,456,756...23,466,956 		JBrowse link
G Wdr83 WD repeat domain 83 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,076,948...23,082,569
Ensembl chr19:23,077,010...23,082,563 		JBrowse link
G Wdr83os WD repeat domain 83 opposite strand ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,075,373...23,076,745
Ensembl chr19:23,075,376...23,076,894 		JBrowse link
G Yipf2 Yip1 domain family, member 2 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:20,141,148...20,145,349
Ensembl chr 8:20,141,155...20,145,339 		JBrowse link
G Zfp653 zinc finger protein 653 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:20,586,607...20,605,439
Ensembl chr 8:20,586,563...20,604,864 		JBrowse link
G Zfp709 zinc finger protein 709 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr16:17,907,599...17,920,047
Ensembl chr16:17,909,641...17,919,700 		JBrowse link
G Zfp791 zinc finger protein 791 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr19:23,018,418...23,033,580
Ensembl chr19:23,018,918...23,033,504 		JBrowse link
G Zfp799 zinc finger protein 799 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 7:11,894,224...11,910,809
Ensembl chr 7:11,898,149...11,910,798 		JBrowse link
G Zfp866 zinc finger protein 866 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr16:19,653,966...19,675,968
Ensembl chr16:19,668,258...19,675,932 		JBrowse link
G Zfp873 zinc finger protein 873 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 7:7,926,951...7,959,822
Ensembl chr 7:7,926,957...7,951,803
Ensembl chr 7:7,926,957...7,951,803 		JBrowse link
G Zfp878 zinc finger protein 878 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr16:17,856,860...17,887,122
Ensembl chr16:17,856,878...17,868,403 		JBrowse link
G Zfp951 zinc finger protein 951 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr14:5,032,494...5,048,775
Ensembl chr14:5,033,734...5,048,756 		JBrowse link
G ZNF69l zinc finger protein 69 like ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 3:138,545,521...138,560,500
Ensembl chr 3:138,544,658...138,557,896 		JBrowse link
G Znf709l zinc finger protein 709 like ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:20,710,114...20,721,236
Ensembl chr 8:20,710,461...20,720,246 		JBrowse link
episodic ataxia type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 susceptibility ISO ClinVar Annotator: match by term: Episodic ataxia type 5
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:10762541 PMID:25741868 PMID:26467025 PMID:28166811 PMID:28492532 NCBI chr 3:36,906,771...37,169,165
Ensembl chr 3:36,910,427...37,168,944 		JBrowse link
episodic ataxia type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc1a3 solute carrier family 1 member 3 ISO ClinVar Annotator: match by term: Episodic ataxia type 6
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16116111 PMID:19139306 PMID:23107647 PMID:24214974 PMID:25497598 More... NCBI chr 2:57,755,495...57,830,605
Ensembl chr 2:57,755,497...57,830,605 		JBrowse link
Episodic Ataxia Type 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Complex neurodevelopmental disorder ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923 		JBrowse link
G Chd2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Complex neurodevelopmental disorder ClinVar PMID:23708187 PMID:24207121 PMID:24614520 PMID:25326635 PMID:25741868 More... NCBI chr 1:127,188,146...127,317,041
Ensembl chr 1:127,190,059...127,300,502 		JBrowse link
G Cul3 cullin 3 ISO ClinVar Annotator: match by term: Complex neurodevelopmental disorder ClinVar PMID:25741868 PMID:32341456 NCBI chr 9:81,592,641...81,670,428
Ensembl chr 9:81,592,641...81,670,462 		JBrowse link
G Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A ISO ClinVar Annotator: match by term: Complex neurodevelopmental disorder ClinVar PMID:9536098 PMID:17576681 PMID:24088041 PMID:25326635 PMID:25741868 More... NCBI chr11:33,890,706...34,009,420
Ensembl chr11:33,890,490...34,009,420 		JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Complex neurodevelopmental disorder ClinVar PMID:28109652 PMID:28492532 PMID:30544257 NCBI chr10:5,629,683...6,053,262
Ensembl chr10:5,631,369...6,044,637 		JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: Complex neurodevelopmental disorder ClinVar PMID:23020937 PMID:24272827 PMID:25326635 PMID:25356899 PMID:25741868 More... NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279 		JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Complex neurodevelopmental disorder ClinVar PMID:4055306 PMID:9425895 PMID:9872318 PMID:11175290 PMID:11572947 More... NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071 		JBrowse link
G Lsm1 LSM1 homolog, mRNA degradation associated ISO ClinVar Annotator: match by term: Complex neurodevelopmental disorder ClinVar PMID:25741868 PMID:31010896 NCBI chr16:66,277,345...66,288,852
Ensembl chr16:66,277,345...66,288,852 		JBrowse link
G Mbd5 methyl-CpG binding domain protein 5 ISO ClinVar Annotator: match by term: Complex neurodevelopmental disorder ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:33,588,854...33,738,730
Ensembl chr 3:33,333,554...33,730,156 		JBrowse link
G Nckap1 NCK-associated protein 1 ISO ClinVar Annotator: match by term: Complex neurodevelopmental disorder ClinVar PMID:25741868 PMID:28940097 PMID:33157009 NCBI chr 3:65,417,450...65,491,769
Ensembl chr 3:65,417,453...65,492,217 		JBrowse link
G Nlgn3 neuroligin 3 ISO ClinVar Annotator: match by term: Complex neurodevelopmental disorder ClinVar NCBI chr  X:66,427,926...66,457,378
Ensembl chr  X:66,429,458...66,451,876 		JBrowse link
G Nr4a2 nuclear receptor subfamily 4, group A, member 2 ISO ClinVar Annotator: match by term: Complex neurodevelopmental disorder ClinVar NCBI chr 3:41,689,847...41,707,036
Ensembl chr 3:41,689,851...41,697,877 		JBrowse link
G Nudt2 nudix hydrolase 2 ISO ClinVar Annotator: match by term: Complex neurodevelopmental disorder ClinVar PMID:25741868 PMID:27431290 PMID:28492532 PMID:30059600 PMID:33058507 NCBI chr 5:56,628,265...56,643,104
Ensembl chr 5:56,628,265...56,643,104 		JBrowse link
G Scaf4 SR-related CTD-associated factor 4 ISO ClinVar Annotator: match by term: Complex neurodevelopmental disorder ClinVar PMID:25741868 PMID:32730804 NCBI chr11:29,460,479...29,521,153
Ensembl chr11:29,465,106...29,521,153 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar Annotator: match by term: Episodic ataxia, type 9 OMIM
ClinVar		 PMID:3508699 PMID:11326335 PMID:11371648 PMID:12243921 PMID:12620097 More... NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214 		JBrowse link
G Syngap1 synaptic Ras GTPase activating protein 1 ISO ClinVar Annotator: match by term: Complex neurodevelopmental disorder ClinVar PMID:16199547 PMID:21237447 PMID:23161826 PMID:23708187 PMID:25326635 More... NCBI chr20:5,026,366...5,056,659
Ensembl chr20:5,026,364...5,056,672 		JBrowse link
G Zfp292 zinc finger protein 292 ISO ClinVar Annotator: match by term: Complex neurodevelopmental disorder ClinVar PMID:25741868 NCBI chr 5:49,384,177...49,468,177
Ensembl chr 5:49,387,893...49,468,265 		JBrowse link
Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nalcn sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Intellectual disability with episodic ataxia and congenital arthrogryposis ClinVar PMID:25683120 PMID:25741868 PMID:25864427 PMID:26763878 PMID:28454995 More... NCBI chr15:100,398,583...100,741,243
Ensembl chr15:100,398,615...100,741,001 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18216
      nervous system disease 14065
        neurodegenerative disease 4895
          hereditary ataxia 635
            episodic ataxia 105
              Episodic Ataxia Type 9 17
              Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis 1
              episodic ataxia type 1 18
              episodic ataxia type 2 66
              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 21126
    disease of anatomical entity 18216
      nervous system disease 14065
        central nervous system disease 12403
          brain disease 11639
            movement disease 2576
              Dyskinesias 2190
                Ataxia 956
                  hereditary ataxia 635
                    episodic ataxia 105
                      Episodic Ataxia Type 9 17
                      Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis 1
                      episodic ataxia type 1 18
                      episodic ataxia type 2 66
                      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