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: pathologic nystagmus
Accession: DOID:9650
browse the term
Definition: Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)
Synonyms: exact_synonym: Convergence Nystagmus; Fatigable Positional Nystagmus; Horizontal Nystagmus; Jerk Nystagmus; Multidirectional Nystagmus; Non Fatigable Positional Nystagmus; Nystagmus; Pendular Nystagmus; Periodic Alternating Nystagmus; Permanent Nystagmus; Rebound Nystagmus; Retraction Nystagmus; Rotary Nystagmus; Rotational Nystagmus; See Saw Nystagmus; Symptomatic Nystagmus; Temporary Nystagmus; Unidirectional Nystagmus; conjugate nystagmus; vertical nystagmus
primary_id: MESH:D009759
xref: ICD10CM:H55.0 ; ICD9CM:379.50 ; NCI:C3282
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Cep290
centrosomal protein 290
ISO
ClinVar Annotator: match by term: Nystagmus
ClinVar
PMID:16909394 PMID:17345604 PMID:17564967 PMID:20683928 PMID:20690115 PMID:23188109 PMID:25525159 PMID:25741868 PMID:25920555 PMID:26092869 PMID:28492532 PMID:28497568 PMID:28559085 PMID:28829391 PMID:29398085 PMID:31091803 PMID:31734136 More...
NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
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Cndp1
carnosine dipeptidase 1
ISO
ClinVar Annotator: match by term: Nystagmus
ClinVar
PMID:25741868
NCBI chr18:77,984,886...78,030,837
Ensembl chr18:77,984,907...78,007,765
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Cngb3
cyclic nucleotide gated channel subunit beta 3
ISO
ClinVar Annotator: match by term: Nystagmus
ClinVar
PMID:10888875 PMID:10958649 PMID:15657609 PMID:15712225 PMID:17652762 PMID:20079539 PMID:25558176 PMID:25741868 PMID:28041643 PMID:28492532 PMID:28795510 PMID:29769798 More...
NCBI chr 5:32,746,988...32,995,121
Ensembl chr 5:32,746,988...32,995,121
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Coq8a
coenzyme Q8A
ISO
ClinVar Annotator: match by term: Nystagmus
ClinVar
PMID:25558065 PMID:25741868
NCBI chr13:91,904,731...91,933,588
Ensembl chr13:91,904,739...91,931,431
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Gnb1
G protein subunit beta 1
ISO
ClinVar Annotator: match by term: Nystagmus
ClinVar
PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 PMID:27108799 PMID:27513193 PMID:28492532 PMID:30194818 PMID:31735425 PMID:32134617 PMID:32963807 More...
NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
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Gpr143
G protein-coupled receptor 143
ISO
ClinVar Annotator: match by term: Nystagmus
ClinVar
PMID:15965158 PMID:18978956 PMID:19390656 PMID:21541274 PMID:25741868 PMID:26160353 PMID:28211458 PMID:28492532 More...
NCBI chr X:22,002,914...22,027,720
Ensembl chr X:22,002,914...22,027,715
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Gucy2e
guanylate cyclase 2E
ISO
ClinVar Annotator: match by term: Nystagmus
ClinVar
PMID:17964524 PMID:25741868 PMID:28492532 PMID:33546218
NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067
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Kcnv2
potassium voltage-gated channel modifier subfamily V member 2
ISO
ClinVar Annotator: match by term: Nystagmus
ClinVar
PMID:17896311 PMID:18235024 PMID:18400204 PMID:21882291 PMID:21911584 PMID:23115240 PMID:23885164 PMID:25741868 PMID:28492532 PMID:33546218 More...
NCBI chr 1:224,999,552...225,014,062
Ensembl chr 1:224,999,552...225,014,062
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Kif7
kinesin family member 7
ISO
ClinVar Annotator: match by term: Nystagmus
ClinVar
PMID:25741868 PMID:28492532 PMID:29286531
NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
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Mip
major intrinsic protein of lens fiber
ISO
ClinVar Annotator: match by term: Nystagmus
ClinVar
PMID:25741868
NCBI chr 7:643,502...653,121
Ensembl chr 7:647,315...654,400
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Mks1
MKS transition zone complex subunit 1
ISO
ClinVar Annotator: match by term: Nystagmus
ClinVar
PMID:18327255 PMID:25741868 PMID:28492532 PMID:28497568 PMID:34008892
NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655
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Nfatc1
nuclear factor of activated T-cells 1
ISO
ClinVar Annotator: match by term: Nystagmus
ClinVar
PMID:25741868
NCBI chr18:74,046,422...74,156,041
Ensembl chr18:74,046,904...74,156,028
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Rpgrip1
RPGR interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11283794
NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605
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Sgsh
N-sulfoglucosamine sulfohydrolase
ISO
ClinVar Annotator: match by term: Nystagmus
ClinVar
PMID:9401012 PMID:15146460 PMID:18407553 PMID:21061399 PMID:21671382 PMID:22976768 PMID:25741868 PMID:26787381 PMID:28492532 PMID:29023963 PMID:31536183 PMID:32581362 More...
NCBI chr10:104,596,810...104,613,510
Ensembl chr10:104,598,112...104,613,486
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Six6
SIX homeobox 6
ISO
ClinVar Annotator: match by term: Nystagmus
ClinVar
NCBI chr 6:91,634,568...91,639,548
Ensembl chr 6:91,634,568...91,639,548
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Six6os1
Six6 opposite strand transcript 1
ISO
ClinVar Annotator: match by term: Nystagmus
ClinVar
NCBI chr 6:91,579,185...91,615,183
Ensembl chr 6:91,579,325...91,615,148
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Stxbp1
syntaxin binding protein 1
ISO
ClinVar Annotator: match by term: Horizontal nystagmus
ClinVar
PMID:20887364 PMID:22612257 PMID:25741868 PMID:25758715 PMID:25818041 PMID:26384463 PMID:26865513 PMID:27779742 PMID:28492532 PMID:30185235 PMID:30842647 More...
NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
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Tbc1d24
TBC1 domain family, member 24
ISO
ClinVar Annotator: match by term: Nystagmus
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050
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Tfap2a
transcription factor AP-2 alpha
ISO
ClinVar Annotator: match by term: Nystagmus
ClinVar
PMID:25741868
NCBI chr17:24,028,716...24,047,507
Ensembl chr17:24,024,432...24,047,507
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Tmem67
transmembrane protein 67
ISO
ClinVar Annotator: match by term: Nystagmus
ClinVar
PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:25741868 PMID:26035863 PMID:26092869 PMID:28492532 More...
NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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Tyr
tyrosinase
ISO
ClinVar Annotator: match by term: Horizontal nystagmus | ClinVar Annotator: match by term: Nystagmus
ClinVar
PMID:7704033 PMID:7955413 PMID:9163730 PMID:13680365 PMID:15381243 PMID:18326704 PMID:18463683 PMID:19060277 PMID:19626598 PMID:19865097 PMID:20861488 PMID:22294196 PMID:24033266 PMID:24721949 PMID:25741868 PMID:25919014 PMID:28266639 PMID:28378818 PMID:28451379 PMID:28492532 PMID:28629449 PMID:28976636 PMID:29345414 PMID:31077556 PMID:33223529 PMID:34008892 More...
NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
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Robo1
roundabout guidance receptor 1
ISO
ClinVar Annotator: match by term: Nystagmus, congenital, autosomal recessive
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:35348658
NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203
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Ahr
aryl hydrocarbon receptor
ISO ISS
CTD Direct Evidence: marker/mechanism
CTD MouseDO
PMID:23301081
NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
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Atf6
activating transcription factor 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26029869
NCBI chr13:82,927,579...83,106,381
Ensembl chr13:82,930,034...83,107,177
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Myo7a
myosin VIIA
ISO
associated with Leber Congenital Amaurosis;DNA:missense mutation:cds:c.578C>T (p.T193I)(human)
RGD
PMID:21901789
RGD:11537385
NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157
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Pax6
paired box 6
ISO
DNA:snp:intron:IVS4+5G>C (human)
RGD
PMID:15629294
RGD:8552281
NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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Robo1
roundabout guidance receptor 1
ISO
ClinVar Annotator: match by term: Congenital nystagmus
ClinVar
PMID:25741868 PMID:28492532 PMID:35348658
NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203
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Rpe65
retinoid isomerohydrolase RPE65
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32971638
NCBI chr 2:248,766,497...248,798,403
Ensembl chr 2:248,766,612...248,798,403
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Frmd7
FERM domain containing 7
ISO ISS
ClinVar Annotator: match by term: Nystagmus 1, congenital, X-linked OMIM:310700 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:16020310 PMID:17013395 PMID:17768376 PMID:17893669 PMID:17962394 PMID:18087240 PMID:19072571 PMID:19892780 PMID:21303855 PMID:21746984 PMID:23020937 PMID:24513357 PMID:25678693 PMID:25741868 PMID:25916882 PMID:27081518 PMID:28492532 PMID:30015830 PMID:30025138 PMID:30942644 More...
NCBI chr X:130,375,925...130,423,836
Ensembl chr X:130,377,227...130,423,771
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Gpr143
G protein-coupled receptor 143
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Nystagmus 6, congenital, X-linked
OMIM CTD ClinVar
PMID:15965158 PMID:17516023 PMID:18523664 PMID:18978956 PMID:19390656 PMID:21541274 PMID:25741868 PMID:26160353 PMID:28211458 PMID:28492532 More...
NCBI chr X:22,002,914...22,027,720
Ensembl chr X:22,002,914...22,027,715
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Robo1
roundabout guidance receptor 1
ISO
OMIM
NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203
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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
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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
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Best2
bestrophin 2
ISO
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 chr19:23,142,324...23,148,351
Ensembl chr19:23,141,602...23,148,339
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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
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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 OMIM:108500 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 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM 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:21454563 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:25274781 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:27290639 PMID:27400454 PMID:27476654 PMID:27667184 PMID:27871455 PMID:27959697 PMID:27965395 PMID:28007337 PMID:28135719 PMID:28166811 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 chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
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Calr
calreticulin
ISO
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 chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
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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
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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
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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
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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 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,330,917...23,340,486
Ensembl chr19:23,334,164...23,339,589
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Dhps
deoxyhypusine synthase
ISO
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 chr19:23,082,454...23,086,544
Ensembl chr19:23,082,448...23,086,881
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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 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,244,656...23,247,376
Ensembl chr19:23,244,664...23,247,376
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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
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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
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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
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
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
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
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 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,291,409...23,300,985
Ensembl chr19:23,268,869...23,300,980
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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 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,090,534...23,097,439
Ensembl chr19:23,090,534...23,097,439
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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 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,320,662...23,323,211
Ensembl chr19:23,320,159...23,323,236
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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 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681
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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 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,130,109...23,138,196
Ensembl chr19:23,130,109...23,138,193
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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 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,151,869...23,170,139
Ensembl chr19:23,151,870...23,164,181
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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 PMID:25735478 PMID:27250579 PMID:28492532 PMID:29184170 More...
NCBI chr19:23,494,551...23,496,075
Ensembl chr19:23,494,184...23,499,211
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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 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,176,265...23,178,049
Ensembl chr19:23,176,294...23,178,035
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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
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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 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,250,627...23,253,802
Ensembl chr19:23,250,631...23,253,758
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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
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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 PMID:25735478 PMID:27250579 PMID:28492532 PMID:29184170 More...
NCBI chr19:23,452,140...23,455,007
Ensembl chr19:23,452,140...23,455,007
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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 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,055,092...23,074,398
Ensembl chr19:23,055,097...23,074,389
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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 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,216,418...23,244,224
Ensembl chr19:23,207,991...23,244,235
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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 PMID:25735478 PMID:27250579 PMID:28492532 PMID:29184170 More...
NCBI chr19:23,468,688...23,486,528
Ensembl chr19:23,468,419...23,486,528
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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 PMID:25735478 PMID:27250579 PMID:28492532 PMID:29184170 More...
NCBI chr19:23,355,388...23,450,360
Ensembl chr19:23,355,498...23,448,265
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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
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Prdx2
peroxiredoxin 2
ISO
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 chr19:23,180,927...23,186,217
Ensembl chr19:23,180,930...23,186,194
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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
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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
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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 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,313,563...23,320,702
Ensembl chr19:23,314,797...23,320,695
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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
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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 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,186,325...23,196,045
Ensembl chr19:23,186,383...23,196,041
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Rtbdn
retbindin
ISO
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 chr19:23,197,506...23,205,544
Ensembl chr19:23,197,506...23,204,438
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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
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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
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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
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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 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,266,236...23,291,265
Ensembl chr19:23,268,869...23,300,980
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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
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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
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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
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Tnpo2
transportin 2
ISO
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 chr19:23,099,398...23,119,696
Ensembl chr19:23,099,401...23,119,596
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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 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,125,083...23,128,502
Ensembl chr19:23,125,083...23,128,510
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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 PMID:25735478 PMID:27250579 PMID:28492532 PMID:29184170 More...
NCBI chr19:23,456,756...23,471,581
Ensembl chr19:23,456,756...23,466,956
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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 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,076,948...23,082,569
Ensembl chr19:23,077,010...23,082,563
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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 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,075,373...23,076,745
Ensembl chr19:23,075,376...23,076,894
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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
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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
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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
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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
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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
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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
G
Zfp867
zinc finger protein 867
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr10:44,244,813...44,255,223
Ensembl chr10:44,245,880...44,255,395
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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
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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
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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
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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
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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
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Atoh7
atonal bHLH transcription factor 7
ISO
ClinVar Annotator: match by term: Foveal hypoplasia
ClinVar
PMID:28492532 PMID:31696227
NCBI chr20:25,530,826...25,531,275
Ensembl chr20:25,530,826...25,531,275
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Nrl
neural retina leucine zipper
ISO
ClinVar Annotator: match by term: Foveal hypoplasia
ClinVar
PMID:25741868 PMID:28492532 PMID:29385733
NCBI chr15:29,007,059...29,011,480
Ensembl chr15:29,008,104...29,009,832
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Opa3
outer mitochondrial membrane lipid metabolism regulator OPA3
ISO
ClinVar Annotator: match by term: Foveal hypoplasia
ClinVar
PMID:31696227
NCBI chr 1:78,879,612...78,910,453
Ensembl chr 1:78,880,114...78,901,469 Ensembl chr 1:78,880,114...78,901,469
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Slc38a8
solute carrier family 38, member 8
ISO
ClinVar Annotator: match by term: Foveal hypoplasia
ClinVar
PMID:24045842 PMID:28492532 PMID:32032626 PMID:33594928 PMID:35029636
NCBI chr19:47,522,781...47,561,443
Ensembl chr19:47,525,301...47,554,726
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Tyr
tyrosinase
ISO
ClinVar Annotator: match by term: Foveal hypoplasia
ClinVar
PMID:666627 PMID:1429711 PMID:1820207 PMID:7704033 PMID:7955413 PMID:9158138 PMID:10766867 PMID:11295837 PMID:17952075 PMID:18326704 PMID:18488027 PMID:18488028 PMID:18925668 PMID:19208379 PMID:19533789 PMID:20301345 PMID:21541274 PMID:23504663 PMID:25216246 PMID:25741868 PMID:27734839 PMID:28378818 PMID:28492532 PMID:28976636 PMID:29345414 PMID:30472657 PMID:31077556 PMID:35803923 More...
NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
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Elp4
elongator acetyltransferase complex subunit 4
ISO
ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT | ClinVar Annotator: match by term: Foveal hypoplasia 1 | ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome
ClinVar
PMID:8364574 PMID:10234503 PMID:22361317 PMID:25741868 PMID:28492532
NCBI chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243
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Pax6
paired box 6
ISO
ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT | ClinVar Annotator: match by term: Foveal hypoplasia 1 | ClinVar Annotator: match by term: Foveal hypoplasia 1 with cataract | ClinVar Annotator: match by term: Foveal hypoplasia 1 with or without anterior segment anomalies | ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:8364574 PMID:8640214 PMID:9727514 PMID:9931324 PMID:10234503 PMID:10441571 PMID:12634864 PMID:12868034 PMID:14744876 PMID:15086958 PMID:15629294 PMID:16407227 PMID:17417613 PMID:18332330 PMID:18483559 PMID:18776953 PMID:22361317 PMID:22692063 PMID:23404109 PMID:25741868 PMID:26604670 PMID:26661695 PMID:27013732 PMID:28321846 PMID:28492532 PMID:31161946 PMID:32360764 More...
NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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Slc38a8
solute carrier family 38, member 8
ISO ISS
ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE DECUSSATION DEFECTS AND ANTERIOR SEGMENT DYSGENESIS WITHOUT ALBINISM | ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING AND ANTERIOR SEGMENT DYSGENESIS | ClinVar Annotator: match by term: Foveal hypoplasia 2 | ClinVar Annotator: match by term: Foveal hypoplasia 2 and optic nerve misrouting with or without anterior segment dysgenesis OMIM:609218 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:16199547 PMID:16707527 PMID:19590516 PMID:24045842 PMID:24290379 PMID:25741868 PMID:28492532 PMID:28546991 PMID:29345414 PMID:32032626 PMID:32830442 PMID:33498813 PMID:33594928 PMID:33781268 PMID:35029636 More...
NCBI chr19:47,522,781...47,561,443
Ensembl chr19:47,525,301...47,554,726
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Six6
SIX homeobox 6
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus
CTD ClinVar
PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532
NCBI chr 6:91,634,568...91,639,548
Ensembl chr 6:91,634,568...91,639,548
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Six6os1
Six6 opposite strand transcript 1
ISO
ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus
ClinVar
PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532
NCBI chr 6:91,579,185...91,615,183
Ensembl chr 6:91,579,325...91,615,148
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Adam17
ADAM metallopeptidase domain 17
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures
ClinVar
NCBI chr 6:40,872,936...40,920,700
Ensembl chr 6:40,872,856...40,920,639
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Cpsf3
cleavage and polyadenylation specific factor 3
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures
OMIM ClinVar
PMID:25741868
NCBI chr 6:40,836,121...40,864,129
Ensembl chr 6:40,836,097...40,864,128
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Iah1
isoamyl acetate hydrolyzing esterase 1
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures
ClinVar
NCBI chr 6:40,865,530...40,872,747
Ensembl chr 6:40,865,502...40,872,978
G
Ywhaq
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures
ClinVar
NCBI chr 6:40,935,714...40,966,240
Ensembl chr 6:40,935,949...40,966,273
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Kidins220
kinase D-interacting substrate 220
ISO
ClinVar Annotator: match by term: Spastic paraplegia, intellectual disability, nystagmus, and obesity
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:27005418 PMID:28492532 PMID:28934391 PMID:29667355 More...
NCBI chr 6:41,618,207...41,706,990
Ensembl chr 6:41,618,294...41,703,256
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Fgf14
fibroblast growth factor 14
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia 27A CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:12489043 PMID:15470364 PMID:17978045 PMID:25566820 PMID:25741868 PMID:30017992 PMID:32162847 More...
NCBI chr15:101,045,033...101,679,888
Ensembl chr15:101,045,036...101,679,900
G
Fgf14
fibroblast growth factor 14
ISO
OMIM
NCBI chr15:101,045,033...101,679,888
Ensembl chr15:101,045,036...101,679,900
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Fgf14
fibroblast growth factor 14
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Spinocerebellar ataxia type 27 OMIM:193003
CTD ClinVar MouseDO
PMID:5470364 PMID:12489043 PMID:15470364 PMID:21681106 PMID:25741868 PMID:26089778 PMID:26467025 PMID:28492532 PMID:30017992 PMID:194719761 More...
NCBI chr15:101,045,033...101,679,888
Ensembl chr15:101,045,036...101,679,900
G
Itgbl1
integrin subunit beta like 1
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia type 27
ClinVar
PMID:25741868
NCBI chr15:100,780,184...101,041,734
Ensembl chr15:100,780,184...101,041,733
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all