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G |
Cep290 |
centrosomal protein 290 |
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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...
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NCBI chr 7:35,310,071...35,399,392
Ensembl chr 7:35,310,199...35,399,392
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G |
Cngb3 |
cyclic nucleotide gated channel subunit beta 3 |
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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...
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NCBI chr 5:32,746,988...32,995,121
Ensembl chr 5:32,746,988...32,995,121
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G |
Coq8a |
coenzyme Q8A |
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ISO |
ClinVar Annotator: match by term: Nystagmus |
ClinVar |
PMID:25558065 |
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NCBI chr13:91,904,731...91,933,588
Ensembl chr13:91,904,739...91,931,431
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G |
Gnb1 |
G protein subunit beta 1 |
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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...
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NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
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G |
Gpr143 |
G protein-coupled receptor 143 |
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ISO |
ClinVar Annotator: match by term: Nystagmus |
ClinVar |
PMID:25741868 |
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NCBI chr X:22,002,914...22,027,720
Ensembl chr X:22,002,914...22,027,715
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G |
Gucy2d |
guanylate cyclase 2D, retinal |
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ISO |
ClinVar Annotator: match by term: Nystagmus |
ClinVar |
PMID:17964524 PMID:25741868 PMID:28492532 PMID:33546218 |
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NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067
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G |
Kcnv2 |
potassium voltage-gated channel modifier subfamily V member 2 |
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ISO |
ClinVar Annotator: match by term: Nystagmus |
ClinVar |
PMID:18235024 PMID:21882291 PMID:21911584 PMID:23115240 PMID:23885164 PMID:25741868 PMID:28492532 PMID:33546218 More...
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NCBI chr 1:224,999,552...225,014,062
Ensembl chr 1:224,999,552...225,014,062
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G |
Mip |
major intrinsic protein of lens fiber |
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ISO |
ClinVar Annotator: match by term: Nystagmus |
ClinVar |
PMID:25741868 |
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NCBI chr 7:643,502...654,573
Ensembl chr 7:647,315...654,400
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G |
Rpgrip1 |
RPGR interacting protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11283794 |
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NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605
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G |
Sgsh |
N-sulfoglucosamine sulfohydrolase |
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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...
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NCBI chr10:104,596,810...104,613,510
Ensembl chr10:104,598,112...104,613,486
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G |
Six6 |
SIX homeobox 6 |
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ISO |
ClinVar Annotator: match by term: Nystagmus |
ClinVar |
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NCBI chr 6:91,634,568...91,639,548
Ensembl chr 6:91,634,568...91,639,548
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G |
Six6os1 |
Six6 opposite strand transcript 1 |
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ISO |
ClinVar Annotator: match by term: Nystagmus |
ClinVar |
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NCBI chr 6:91,579,185...91,615,183
Ensembl chr 6:91,579,325...91,615,148
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G |
Stxbp1 |
syntaxin binding protein 1 |
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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...
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NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
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G |
Tfap2a |
transcription factor AP-2 alpha |
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ISO |
ClinVar Annotator: match by term: Nystagmus |
ClinVar |
PMID:25741868 |
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NCBI chr17:24,028,716...24,047,507
Ensembl chr17:24,024,432...24,047,507
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G |
Tmem67 |
transmembrane protein 67 |
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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...
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NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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G |
Tyr |
tyrosinase |
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ISO |
ClinVar Annotator: match by term: Horizontal nystagmus | ClinVar Annotator: match by term: Nystagmus |
ClinVar |
PMID:7704033 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:28451379 PMID:28492532 PMID:28629449 PMID:29345414 PMID:33223529 PMID:34008892 More...
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NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
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G |
Ahr |
aryl hydrocarbon receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23301081 |
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NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
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G |
Atf6 |
activating transcription factor 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26029869 |
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NCBI chr13:82,927,579...83,106,381
Ensembl chr13:82,930,034...83,107,177
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G |
Myo7a |
myosin VIIA |
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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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G |
Pax6 |
paired box 6 |
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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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G |
Robo1 |
roundabout guidance receptor 1 |
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ISO |
ClinVar Annotator: match by term: Congenital nystagmus |
ClinVar |
PMID:25741868 |
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NCBI chr11:10,580,863...11,621,672
Ensembl chr11:10,580,908...11,620,203
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G |
Rpe65 |
retinoid isomerohydrolase RPE65 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32971638 |
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NCBI chr 2:248,766,497...248,798,403
Ensembl chr 2:248,766,612...248,798,403
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G |
Frmd7 |
FERM domain containing 7 |
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ISO |
ClinVar Annotator: match by term: Nystagmus 1, congenital, X-linked CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:16020310 PMID:17013395 PMID:17962394 PMID:18087240 PMID:19072571 PMID:19892780 PMID:21303855 PMID:21746984 PMID:23020937 PMID:25741868 PMID:25916882 PMID:28492532 More...
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NCBI chr X:130,375,925...130,423,836
Ensembl chr X:130,377,227...130,423,771
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G |
Gpr143 |
G protein-coupled receptor 143 |
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ISO |
ClinVar Annotator: match by term: Nystagmus 6, congenital, X-linked |
OMIM ClinVar |
PMID:17516023 PMID:18523664 PMID:19390656 PMID:25741868 PMID:28492532 |
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NCBI chr X:22,002,914...22,027,720
Ensembl chr X:22,002,914...22,027,715
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G |
Best2 |
bestrophin 2 |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 2 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:25735478 PMID:26814174 PMID:27250579 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,141,602...23,148,351
Ensembl chr19:23,141,602...23,148,339
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G |
Cacna1a |
calcium voltage-gated channel subunit alpha1 A |
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ISO |
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 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 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:12756131 PMID:14530926 PMID:14592859 PMID:14694040 PMID:14718690 PMID:15003170 PMID:15173248 PMID:15240985 PMID:15452324 PMID:15483044 PMID:15622542 PMID:15795222 PMID:15985579 PMID:16043807 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:18313928 PMID:18354422 PMID:18434528 PMID:18513263 PMID:18541804 PMID:18597946 PMID:18606230 PMID:18644040 PMID:18940563 PMID:19232643 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: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: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:25735478 PMID:25741868 PMID:25758715 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:28007337 PMID:28166811 PMID:28169007 PMID:28431595 PMID:28444220 PMID:28455667 PMID:28492532 PMID:28540055 PMID:28566750 PMID:28742085 PMID:28900389 PMID:28978442 PMID:29056246 PMID:29100083 PMID:29165669 PMID:29186148 PMID:29276004 PMID:29343472 PMID:29389947 PMID:29444203 PMID:29482223 PMID:29883219 PMID:29908077 PMID:29915382 PMID:29924869 PMID:29997391 PMID:30011838 PMID:30063100 PMID:30142438 PMID:30167989 PMID:30185235 PMID:30283815 PMID:30692599 PMID:30755392 PMID:30891074 PMID:31015257 PMID:31115040 PMID:31139143 PMID:31288946 PMID:31468518 PMID:31487502 PMID:31618753 PMID:31719132 PMID:32116539 PMID:32238909 PMID:32581362 PMID:32910250 PMID:33233562 PMID:33278787 PMID:33349592 PMID:33425808 PMID:34436362 PMID:35401678 PMID:35600082 PMID:35837781 PMID:97053792 PMID:14530926 More...
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RGD:1358446 |
NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
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G |
Calr |
calreticulin |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 2 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:25735478 PMID:26814174 PMID:27250579 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
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G |
Dand5 |
DAN domain BMP antagonist family member 5 |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 2 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:25735478 PMID:26814174 PMID:27250579 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,330,917...23,340,486
Ensembl chr19:23,334,164...23,339,589
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G |
Dhps |
deoxyhypusine synthase |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 2 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:25735478 PMID:26814174 PMID:27250579 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,082,454...23,086,544
Ensembl chr19:23,082,448...23,086,881
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G |
Dnase2 |
deoxyribonuclease 2, lysosomal |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 2 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:25735478 PMID:26814174 PMID:27250579 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,244,661...23,247,329
Ensembl chr19:23,244,664...23,247,376
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G |
Farsa |
phenylalanyl-tRNA synthetase subunit alpha |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 2 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:25735478 PMID:26814174 PMID:27250579 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,291,409...23,300,985
Ensembl chr19:23,268,869...23,300,980
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G |
Fbxw9 |
F-box and WD repeat domain containing 9 |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 2 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:25735478 PMID:26814174 PMID:27250579 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,090,534...23,097,439
Ensembl chr19:23,090,534...23,097,439
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G |
Gadd45gip1 |
GADD45G interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 2 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:25735478 PMID:26814174 PMID:27250579 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,320,662...23,323,211
Ensembl chr19:23,320,159...23,323,236
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G |
Gcdh |
glutaryl-CoA dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 2 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:25735478 PMID:26814174 PMID:27250579 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681
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G |
Get3 |
guided entry of tail-anchored proteins factor 3, ATPase |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 2 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:25735478 PMID:26814174 PMID:27250579 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,130,109...23,138,196
Ensembl chr19:23,130,109...23,138,193
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G |
Hook2 |
hook microtubule-tethering protein 2 |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 2 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:25735478 PMID:26814174 PMID:27250579 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,151,869...23,170,139
Ensembl chr19:23,151,870...23,164,181
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G |
Ier2 |
immediate early response 2 |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 2 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:25735478 PMID:26814174 PMID:27250579 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,494,551...23,496,075
Ensembl chr19:23,494,184...23,499,211
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G |
Junb |
JunB proto-oncogene, AP-1 transcription factor subunit |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 2 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:25735478 PMID:26814174 PMID:27250579 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,176,265...23,178,049
Ensembl chr19:23,176,294...23,178,035
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G |
Klf1 |
KLF transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 2 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:25735478 PMID:26814174 PMID:27250579 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,250,627...23,253,802
Ensembl chr19:23,250,631...23,253,758
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G |
Lyl1 |
LYL1, basic helix-loop-helix family member |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 2 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:25735478 PMID:26814174 PMID:27250579 PMID:28007337 PMID:28492532 PMID:31139143 More...
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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 |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 2 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:25735478 PMID:26814174 PMID:27250579 PMID:28007337 PMID:28492532 PMID:31139143 More...
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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 |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 2 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:25735478 PMID:26814174 PMID:27250579 PMID:28007337 PMID:28492532 PMID:31139143 More...
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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 |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 2 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:25735478 PMID:26814174 PMID:27250579 PMID:28007337 PMID:28492532 PMID:31139143 More...
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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 |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 2 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:25735478 PMID:26814174 PMID:27250579 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,355,388...23,450,360
Ensembl chr19:23,355,498...23,448,265
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Prdx2 |
peroxiredoxin 2 |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 2 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:25735478 PMID:26814174 PMID:27250579 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,180,927...23,186,217
Ensembl chr19:23,180,930...23,186,194
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Rad23a |
RAD23 homolog A, nucleotide excision repair protein |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 2 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:25735478 PMID:26814174 PMID:27250579 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,313,563...23,320,702
Ensembl chr19:23,314,797...23,320,695
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Rnaseh2a |
ribonuclease H2, subunit A |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 2 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:25735478 PMID:26814174 PMID:27250579 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,186,325...23,196,045
Ensembl chr19:23,186,383...23,196,041
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Rtbdn |
retbindin |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 2 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:25735478 PMID:26814174 PMID:27250579 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,197,506...23,205,544
Ensembl chr19:23,197,506...23,204,438
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Syce2 |
synaptonemal complex central element protein 2 |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 2 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:25735478 PMID:26814174 PMID:27250579 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,266,236...23,291,265
Ensembl chr19:23,268,869...23,300,980
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Tnpo2 |
transportin 2 |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 2 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:25735478 PMID:26814174 PMID:27250579 PMID:28007337 PMID:28492532 PMID:31139143 More...
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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 |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 2 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:25735478 PMID:26814174 PMID:27250579 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,125,083...23,128,502
Ensembl chr19:23,125,083...23,128,510
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Trmt1 |
tRNA methyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 2 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:25735478 PMID:26814174 PMID:27250579 PMID:28007337 PMID:28492532 PMID:31139143 More...
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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 |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 2 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:25735478 PMID:26814174 PMID:27250579 PMID:28007337 PMID:28492532 PMID:31139143 More...
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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 |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 2 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:25735478 PMID:26814174 PMID:27250579 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,075,372...23,076,934
Ensembl chr19:23,075,376...23,076,894
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Atoh7 |
atonal bHLH transcription factor 7 |
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ISO |
ClinVar Annotator: match by term: Foveal hypoplasia |
ClinVar |
PMID:28492532 PMID:31696227 |
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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 |
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ISO |
ClinVar Annotator: match by term: Foveal hypoplasia |
ClinVar |
PMID:25741868 |
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NCBI chr15:29,008,104...29,009,832
Ensembl chr15:29,008,104...29,009,832
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Opa3 |
outer mitochondrial membrane lipid metabolism regulator OPA3 |
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ISO |
ClinVar Annotator: match by term: Foveal hypoplasia |
ClinVar |
PMID:31696227 |
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NCBI chr 1:78,881,392...78,899,549 NCBI chr 1:78,879,612...78,910,453
Ensembl chr 1:78,880,114...78,901,469
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Slc38a8 |
solute carrier family 38, member 8 |
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ISO |
ClinVar Annotator: match by term: Foveal hypoplasia |
ClinVar |
PMID:24045842 |
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NCBI chr19:47,522,781...47,561,443
Ensembl chr19:47,525,301...47,554,726
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Tyr |
tyrosinase |
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ISO |
ClinVar Annotator: match by term: Foveal hypoplasia |
ClinVar |
PMID:666627 PMID:1429711 PMID:1820207 PMID:7704033 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:28492532 PMID:29345414 More...
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NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
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Slc38a8 |
solute carrier family 38, member 8 |
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ISO |
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 | ClinVar Annotator: match by term: Foveal hypoplasia 2 and optic nerve misrouting with or without anterior segment dysgenesis |
OMIM ClinVar |
PMID:19590516 PMID:24045842 PMID:24290379 PMID:25741868 PMID:28492532 |
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NCBI chr19:47,522,781...47,561,443
Ensembl chr19:47,525,301...47,554,726
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Six6 |
SIX homeobox 6 |
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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 |
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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 |
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ISO |
ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus |
ClinVar |
PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532 |
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NCBI chr 6:91,579,185...91,615,183
Ensembl chr 6:91,579,325...91,615,148
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Elp4 |
elongator acetyltransferase complex subunit 4 |
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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:22361317 PMID:25741868 PMID:28492532 |
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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 |
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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 |
OMIM ClinVar |
PMID:8364574 PMID:8640214 PMID:9727514 PMID:9931324 PMID:10441571 PMID:12868034 PMID:14744876 PMID:15086958 PMID:15629294 PMID:16407227 PMID:17417613 PMID:18332330 PMID:18776953 PMID:22361317 PMID:23404109 PMID:25741868 PMID:26604670 PMID:27013732 PMID:28492532 PMID:32360764 More...
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NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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Kidins220 |
kinase D-interacting substrate 220 |
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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...
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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 |
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ISO |
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OMIM |
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NCBI chr15:101,045,038...101,679,888
Ensembl chr15:101,045,036...101,679,900
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Fgf14 |
fibroblast growth factor 14 |
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ISO |
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OMIM |
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NCBI chr15:101,045,038...101,679,888
Ensembl chr15:101,045,036...101,679,900
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Fgf14 |
fibroblast growth factor 14 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Nystagmus 4, congenital, autosomal dominant | ClinVar Annotator: match by term: Spinocerebellar ataxia type 27 |
CTD ClinVar |
PMID:5470364 PMID:12489043 PMID:15470364 PMID:21681106 PMID:25566820 PMID:25741868 PMID:26089778 PMID:26467025 PMID:28492532 PMID:30017992 PMID:32162847 PMID:194719761 More...
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NCBI chr15:101,045,038...101,679,888
Ensembl chr15:101,045,036...101,679,900
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Itgbl1 |
integrin subunit beta like 1 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia type 27 |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr15:100,780,184...101,041,734
Ensembl chr15:100,780,184...101,041,733
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