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 2
Accession: DOID:0050990
browse the term
Definition: An episodic ataxia that is characterized by periodic ataxia and nystagmus, and has_material_basis_in autosomal dominant inheritance of mutation in the calcium channel gene CACNA1A. (DO)
Synonyms: exact_synonym: APCA; Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia; Ataxia, Familial Paroxysmal; CAPA; Cerebellar ataxia, paroxysmal, Acetazolamide-responsive; Cerebellopathy, hereditary paroxysmal; EA2; Episodic ataxia with nystagmus; acetazolamide-responsive episodic ataxia syndrome; nystagmus-associated episodic ataxia
narrow_synonym: EPISODIC ATAXIA, TYPE 2, AND EPILEPSY
primary_id: MESH:C535506
alt_id: OMIM:108500
xref: NCI:C202603
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ACP5
acid phosphatase 5, tartrate resistant
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993
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ANGPTL8
angiopoietin like 8
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:11,239,619...11,241,943
Ensembl chr19:11,237,502...11,241,943
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BEST2
bestrophin 2
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:12,751,791...12,758,458
Ensembl chr19:12,751,702...12,758,458
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C19orf38
chromosome 19 open reading frame 38
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:10,836,685...10,869,790
Ensembl chr19:10,836,575...10,869,790
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CACNA1A
calcium voltage-gated channel subunit alpha1 A
IAGP ISS EXP
ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar Annotator: match by term: Cerebellar ataxia, paroxysmal, Acetazolamide-responsive | ClinVar Annotator: match by term: Episodic ataxia type 2 OMIM:108500 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Episodic ataxia, type 2, and epilepsy
ClinVar MouseDO OMIM CTD RGD
PMID:1849839 PMID:8734765 PMID:8898206 PMID:9005860 PMID:9329229 PMID:9345107 PMID:9488686 PMID:9536098 PMID:9600739 PMID:9915947 PMID:10024348 PMID:10371528 PMID:10408532 PMID:10408533 PMID:10408534 PMID:10699052 PMID:10734061 PMID:10987655 PMID:11176968 PMID:11179022 PMID:11370629 PMID:11409427 PMID:11439943 PMID:11564488 PMID:11723274 PMID:11742003 PMID:11809294 PMID:11814735 PMID:11854167 PMID:11971066 PMID:11985388 PMID:12056940 PMID:12235360 PMID:12420090 PMID:12707077 PMID:12736095 PMID:12756131 PMID:14530926 PMID:14592859 PMID:14694040 PMID:14718690 PMID:15003170 PMID:15173248 PMID:15240985 PMID:15452324 PMID:15483044 PMID:15622542 PMID:15743764 PMID:15795222 PMID:15985579 PMID:16043807 PMID:16186543 PMID:16199547 PMID:16306128 PMID:16325861 PMID:16508934 PMID:16583725 PMID:16602100 PMID:16787562 PMID:16866717 PMID:17119788 PMID:17142831 PMID:17292920 PMID:17495624 PMID:17576681 PMID:17588611 PMID:18056581 PMID:18279427 PMID:18313928 PMID:18354422 PMID:18434528 PMID:18437043 PMID:18498393 PMID:18513263 PMID:18541804 PMID:18581134 PMID:18597946 PMID:18606230 PMID:18644040 PMID:18940563 PMID:19232643 PMID:19242091 PMID:19344873 PMID:19484318 PMID:19486177 PMID:19520699 PMID:19586927 PMID:19624685 PMID:19633872 PMID:19811514 PMID:19864665 PMID:20080591 PMID:20097664 PMID:20129625 PMID:20156848 PMID:20301562 PMID:20301674 PMID:20396531 PMID:20663518 PMID:20682717 PMID:20837964 PMID:21183743 PMID:21431381 PMID:21703448 PMID:21734179 PMID:21768184 PMID:21927611 PMID:22000314 PMID:22190617 PMID:22249839 PMID:22527033 PMID:22784462 PMID:22942164 PMID:22969264 PMID:23038654 PMID:23071170 PMID:23103419 PMID:23183922 PMID:23344743 PMID:23397224 PMID:23407676 PMID:23831250 PMID:23869231 PMID:23934111 PMID:24033266 PMID:24046065 PMID:24091540 PMID:24108129 PMID:24270521 PMID:24420976 PMID:24445160 PMID:24486772 PMID:24498617 PMID:24658662 PMID:24664531 PMID:24996492 PMID:25266619 PMID:25274239 PMID:25326635 PMID:25326637 PMID:25356970 PMID:25481746 PMID:25525159 PMID:25596066 PMID:25640679 PMID:25716839 PMID:25735478 PMID:25741868 PMID:25758715 PMID:25784583 PMID:25819952 PMID:25851414 PMID:25969684 PMID:26423924 PMID:26467025 PMID:26633542 PMID:26716990 PMID:26795593 PMID:26814174 PMID:26912519 PMID:27066515 PMID:27165006 PMID:27250579 PMID:27400454 PMID:27476654 PMID:27667184 PMID:27871455 PMID:27959697 PMID:27965395 PMID:28007337 PMID:28135719 PMID:28169007 PMID:28252636 PMID:28431595 PMID:28444220 PMID:28455667 PMID:28492532 PMID:28540055 PMID:28566750 PMID:28742085 PMID:28856914 PMID:28900389 PMID:28927557 PMID:28978442 PMID:29056246 PMID:29062094 PMID:29100083 PMID:29165669 PMID:29184170 PMID:29186148 PMID:29276004 PMID:29343472 PMID:29389947 PMID:29444203 PMID:29482223 PMID:29713557 PMID:29852413 PMID:29883219 PMID:29908077 PMID:29915382 PMID:29924869 PMID:29926469 PMID:29997391 PMID:30011838 PMID:30063100 PMID:30142438 PMID:30167989 PMID:30185235 PMID:30283815 PMID:30301590 PMID:30692599 PMID:30852237 PMID:30891074 PMID:31015257 PMID:31115040 PMID:31139143 PMID:31164858 PMID:31171384 PMID:31288946 PMID:31302675 PMID:31440721 PMID:31447099 PMID:31468518 PMID:31475473 PMID:31487502 PMID:31506931 PMID:31618753 PMID:31654490 PMID:31692161 PMID:31719132 PMID:31810576 PMID:31824404 PMID:31915071 PMID:32116539 PMID:32170034 PMID:32238909 PMID:32581362 PMID:32910250 PMID:33084218 PMID:33098801 PMID:33121221 PMID:33144682 PMID:33163565 PMID:33233562 PMID:33278787 PMID:33349592 PMID:33425808 PMID:33746731 PMID:33790770 PMID:33879512 PMID:34085110 PMID:34102571 PMID:34263451 PMID:34320921 PMID:34356170 PMID:34426522 PMID:34436362 PMID:34631621 PMID:34806130 PMID:35154276 PMID:35217970 PMID:35401678 PMID:35600082 PMID:35722745 PMID:35723786 PMID:35837781 PMID:36353133 PMID:36530930 PMID:37555011 PMID:97053792 PMID:14530926 More...
RGD:1358446
NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025
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CALR
calreticulin
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489
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CARM1
coactivator associated arginine methyltransferase 1
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:10,871,553...10,923,075
Ensembl chr19:10,871,553...10,923,075
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CCDC159
coiled-coil domain containing 159
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:11,346,519...11,354,944
Ensembl chr19:11,344,684...11,354,944
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CNN1
calponin 1
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:11,538,851...11,550,323
Ensembl chr19:11,538,767...11,550,323
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DAND5
DAN domain BMP antagonist family member 5
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:12,969,576...12,974,760
Ensembl chr19:12,965,159...12,974,760
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DHPS
deoxyhypusine synthase
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:12,672,470...12,681,880
Ensembl chr19:12,675,717...12,681,880
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DNASE2
deoxyribonuclease 2, lysosomal
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:12,875,209...12,881,449
Ensembl chr19:12,875,209...12,881,595
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DNM2
dynamin 2
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:10,718,079...10,831,903
Ensembl chr19:10,718,055...10,833,488
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DOCK6
dedicator of cytokinesis 6
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:11,199,295...11,262,524
Ensembl chr19:11,199,295...11,262,524
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ECSIT
ECSIT signaling integrator
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:11,505,929...11,529,134
Ensembl chr19:11,505,929...11,529,172
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ELAVL3
ELAV like RNA binding protein 3
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:11,451,326...11,481,046
Ensembl chr19:11,451,326...11,481,046
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ELOF1
elongation factor 1
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:11,553,046...11,559,230
Ensembl chr19:11,551,147...11,559,230
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EPOR
erythropoietin receptor
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:11,377,207...11,384,314
Ensembl chr19:11,377,207...11,384,342
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FARSA
phenylalanyl-tRNA synthetase subunit alpha
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:12,922,479...12,933,711
Ensembl chr19:12,922,479...12,934,037
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FBXW9
F-box and WD repeat domain containing 9
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:12,688,916...12,696,631
Ensembl chr19:12,688,053...12,696,631
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GADD45GIP1
GADD45G interacting protein 1
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:12,953,119...12,957,223
Ensembl chr19:12,953,119...12,957,223
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GCDH
glutaryl-CoA dehydrogenase
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,160...12,914,207
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GET3
guided entry of tail-anchored proteins factor 3, ATPase
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:12,737,106...12,748,323
Ensembl chr19:12,737,139...12,748,323
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HOOK2
hook microtubule tethering protein 2
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:12,763,003...12,792,350
Ensembl chr19:12,763,003...12,872,740
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IER2
immediate early response 2
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 PMID:29184170 More...
NCBI chr19:13,150,411...13,154,911
Ensembl chr19:13,150,411...13,154,911
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JUNB
JunB proto-oncogene, AP-1 transcription factor subunit
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:12,791,486...12,793,315
Ensembl chr19:12,791,486...12,793,315
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KANK2
KN motif and ankyrin repeat domains 2
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:11,164,270...11,197,865
Ensembl chr19:11,164,270...11,197,791
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KLF1
KLF transcription factor 1
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:12,884,422...12,887,201
Ensembl chr19:12,884,422...12,887,201
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LDLR
low density lipoprotein receptor
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:11,089,463...11,133,820
Ensembl chr19:11,089,418...11,133,820
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LOC108663985
calcium voltage-gated channel subunit alpha1 A repeat instability region
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:18541804 PMID:19586927
NCBI chr19:13,207,859...13,207,898
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LOC111365163
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr19:13509521-13510720
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:19586927
NCBI chr19:13,398,707...13,399,906
G
LOC112543459
Sharpr-MPRA regulatory region 1233
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:19586927
NCBI chr19:13,491,852...13,492,549
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LOC121852980
Sharpr-MPRA regulatory region 13658
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:19586927
NCBI chr19:13,268,115...13,268,409
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LOC126862864
MED14-independent group 3 enhancer GRCh37_chr19:13371552-13372751
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:9536098 PMID:10371528 PMID:11723274 PMID:14718690 PMID:17576681 PMID:19486177 PMID:19586927 PMID:22249839 PMID:25735478 PMID:25741868 PMID:26467025 PMID:27250579 PMID:27959697 PMID:28007337 PMID:28492532 PMID:29056246 PMID:29100083 PMID:30283815 PMID:31468518 PMID:31487502 PMID:34436362 More...
NCBI chr19:13,260,738...13,261,937
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LOC126862865
CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:13385818-13387017
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:8898206 PMID:10371528 PMID:14718690 PMID:16199547 PMID:19486177 PMID:19586927 PMID:22942164 PMID:25735478 PMID:25741868 PMID:26467025 PMID:27250579 PMID:28492532 PMID:34263451 More...
NCBI chr19:13,275,004...13,276,203
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LOC126862866
MED14-independent group 3 enhancer GRCh37_chr19:13445719-13446918
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar Annotator: match by term: Cerebellar ataxia, paroxysmal, Acetazolamide-responsive
ClinVar
PMID:10371528 PMID:16199547 PMID:19486177 PMID:19586927 PMID:25735478 PMID:25741868 PMID:26467025 PMID:27250579 PMID:28492532 PMID:28566750 PMID:29915382 PMID:30142438 PMID:32910250 More...
NCBI chr19:13,334,905...13,336,104
G
LOC129391066
MPRA-validated peak3368 silencer
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:18541804 PMID:19586927
NCBI chr19:13,215,601...13,215,801
G
LOC130063715
ATAC-STARR-seq lymphoblastoid active region 14125
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:18541804 PMID:19586927
NCBI chr19:13,208,240...13,208,509
G
LOC130063716
ATAC-STARR-seq lymphoblastoid silent region 10202
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:18541804 PMID:19586927
NCBI chr19:13,208,510...13,208,559
G
LOC130063717
ATAC-STARR-seq lymphoblastoid silent region 10203
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:9536098 PMID:17576681 PMID:18541804 PMID:19586927 PMID:25741868 PMID:26423924 PMID:28492532 More...
NCBI chr19:13,208,640...13,208,829
G
LOC130063718
ATAC-STARR-seq lymphoblastoid active region 14127
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:18541804 PMID:19586927
NCBI chr19:13,215,852...13,216,221
G
LOC130063719
ATAC-STARR-seq lymphoblastoid silent region 10204
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:18541804 PMID:19586927
NCBI chr19:13,234,652...13,234,701
G
LOC130063720
ATAC-STARR-seq lymphoblastoid silent region 10205
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:19586927
NCBI chr19:13,277,262...13,277,321
G
LOC130063721
ATAC-STARR-seq lymphoblastoid active region 14132
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:19586927
NCBI chr19:13,277,642...13,277,811
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LYL1
LYL1 basic helix-loop-helix family member
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 PMID:29184170 More...
NCBI chr19:13,099,033...13,102,858
Ensembl chr19:13,099,033...13,103,161
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MAN2B1
mannosidase alpha class 2B member 1
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:12,646,512...12,666,742
Ensembl chr19:12,646,511...12,666,742
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MAST1
microtubule associated serine/threonine kinase 1
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:12,838,515...12,874,952
Ensembl chr19:12,833,951...12,874,952
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MIR199A1
microRNA 199a-1
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:10,817,426...10,817,496
Ensembl chr19:10,817,426...10,817,496
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NACC1
nucleus accumbens associated 1
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 PMID:29184170 More...
NCBI chr19:13,116,852...13,141,147
Ensembl chr19:13,116,862...13,141,147
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NFIX
nuclear factor I X
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 PMID:29184170 More...
NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796
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ODAD3
outer dynein arm docking complex subunit 3
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:11,420,605...11,435,782
Ensembl chr19:11,420,604...11,435,782
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PRDX2
peroxiredoxin 2
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:12,796,823...12,801,800
Ensembl chr19:12,796,820...12,801,800
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PRKCSH
PRKCSH beta subunit of glucosidase II
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:11,435,635...11,450,968
Ensembl chr19:11,435,284...11,450,968
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RAB3D
RAB3D, member RAS oncogene family
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:11,322,068...11,339,657
Ensembl chr19:11,322,068...11,346,270
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RAD23A
RAD23 homolog A, nucleotide excision repair protein
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:12,945,862...12,953,642
Ensembl chr19:12,945,855...12,953,642
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RGL3
ral guanine nucleotide dissociation stimulator like 3
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:11,394,060...11,419,314
Ensembl chr19:11,384,341...11,419,328
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RNASEH2A
ribonuclease H2 subunit A
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,584...12,813,640
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RTBDN
retbindin
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:12,825,482...12,835,428
Ensembl chr19:12,825,478...12,835,428
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SMARCA4
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426
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SPC24
SPC24 component of NDC80 kinetochore complex
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:11,145,493...11,155,782
Ensembl chr19:11,131,520...11,155,807
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STX10
syntaxin 10
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 PMID:29184170 More...
NCBI chr19:13,144,058...13,150,375
Ensembl chr19:13,144,058...13,150,383
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SWSAP1
SWIM-type zinc finger 7 associated protein 1
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:11,374,666...11,376,169
Ensembl chr19:11,374,666...11,376,951
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SYCE2
synaptonemal complex central element protein 2
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:12,898,786...12,919,293
Ensembl chr19:12,898,786...12,919,293
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TIMM29
translocase of inner mitochondrial membrane 29
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:10,928,811...10,930,254
Ensembl chr19:10,928,811...10,933,535
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TMED1
transmembrane p24 trafficking protein 1
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:10,832,067...10,836,212
Ensembl chr19:10,832,067...10,836,318
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TMEM205
transmembrane protein 205
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:11,342,778...11,346,492
Ensembl chr19:11,342,776...11,346,518
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TNPO2
transportin 2
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:12,699,201...12,723,932
Ensembl chr19:12,699,201...12,724,011
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TRIR
telomerase RNA component interacting RNase
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:12,730,640...12,734,684
Ensembl chr19:12,730,640...12,734,684
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TRMT1
tRNA methyltransferase 1
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 PMID:29184170 More...
NCBI chr19:13,104,907...13,116,740
Ensembl chr19:13,104,902...13,117,567
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TSPAN16
tetraspanin 16
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:11,296,160...11,326,996
Ensembl chr19:11,296,139...11,326,996
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WDR83
WD repeat domain 83
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:12,666,807...12,675,832
Ensembl chr19:12,666,802...12,675,832
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WDR83OS
WD repeat domain 83 opposite strand
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:12,668,073...12,669,415
Ensembl chr19:12,668,073...12,669,415
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YIPF2
Yip1 domain family member 2
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:10,922,193...10,928,639
Ensembl chr19:10,922,185...10,928,681
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ZNF136
zinc finger protein 136
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:12,163,096...12,189,871
Ensembl chr19:12,163,064...12,189,871
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ZNF20
zinc finger protein 20
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:12,131,350...12,140,350
Ensembl chr19:12,092,843...12,140,355
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ZNF433
zinc finger protein 433
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:12,014,715...12,035,679
Ensembl chr19:12,014,715...12,035,741
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ZNF439
zinc finger protein 439
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:11,848,726...11,869,486
Ensembl chr19:11,848,726...11,883,750
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ZNF44
zinc finger protein 44
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:12,224,686...12,294,883
Ensembl chr19:12,224,686...12,294,883
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ZNF440
zinc finger protein 440
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:11,814,273...11,835,216
Ensembl chr19:11,814,273...11,835,216
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ZNF441
zinc finger protein 441
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:11,767,000...11,784,078
Ensembl chr19:11,767,000...11,784,078
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ZNF442
zinc finger protein 442
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:12,345,944...12,373,779
Ensembl chr19:12,345,944...12,365,905
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ZNF443
zinc finger protein 443
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:12,429,706...12,441,021
Ensembl chr19:12,429,706...12,441,021
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ZNF490
zinc finger protein 490
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:12,576,100...12,610,813
Ensembl chr19:12,576,100...12,640,098
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ZNF491
zinc finger protein 491
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:11,798,523...11,808,503
Ensembl chr19:11,797,667...11,809,622
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ZNF563
zinc finger protein 563
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:12,317,477...12,347,390
Ensembl chr19:12,317,477...12,333,720
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ZNF564
zinc finger protein 564
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:12,525,373...12,551,482
Ensembl chr19:12,525,373...12,551,542
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ZNF625
zinc finger protein 625
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:12,144,890...12,156,734
Ensembl chr19:12,142,090...12,156,734
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ZNF627
zinc finger protein 627
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:11,597,483...11,619,161
Ensembl chr19:11,559,374...11,619,161
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ZNF653
zinc finger protein 653
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:11,483,429...11,505,839
Ensembl chr19:11,483,427...11,505,839
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ZNF69
zinc finger protein 69
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:11,887,782...11,980,222
Ensembl chr19:11,887,782...11,914,329
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ZNF700
zinc finger protein 700
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:11,925,107...11,950,763
Ensembl chr19:11,925,068...11,950,773
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ZNF709
zinc finger protein 709
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:12,461,184...12,484,816
Ensembl chr19:12,461,184...12,513,854
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ZNF763
zinc finger protein 763
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:11,965,040...11,980,617
Ensembl chr19:11,965,037...11,980,617
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ZNF791
zinc finger protein 791
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:12,610,920...12,633,834
Ensembl chr19:12,610,918...12,633,840
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ZNF799
zinc finger protein 799
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:12,390,016...12,415,084
Ensembl chr19:12,390,016...12,401,271
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ZNF823
zinc finger protein 823
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:11,721,265...11,738,946
Ensembl chr19:11,721,265...11,739,009
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ZNF844
zinc finger protein 844
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:12,064,731...12,081,565
Ensembl chr19:12,064,731...12,081,565
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ZNF878
zinc finger protein 878
IAGP
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:12,043,602...12,052,961
Ensembl chr19:12,043,805...12,052,961
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