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G |
Mecp2 |
methyl-CpG binding protein 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19559301 |
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NCBI chrNW_004955580:674,014...737,586
Ensembl chrNW_004955580:679,109...735,288
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G |
Scn2a |
sodium voltage-gated channel alpha subunit 2 |
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ISO |
ClinVar Annotator: match by term: Myoclonus |
ClinVar |
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NCBI chrNW_004955449:8,722,043...8,846,165
Ensembl chrNW_004955449:8,721,784...8,846,200
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G |
Scn8a |
sodium voltage-gated channel alpha subunit 8 |
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ISO |
ClinVar Annotator: match by term: Myoclonus |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955547:2,086,215...2,201,300
Ensembl chrNW_004955547:2,086,178...2,195,971
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G |
Tbc1d24 |
TBC1 domain family member 24 |
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ISO |
ClinVar Annotator: match by term: Myoclonus |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955442:14,816,213...14,823,132
Ensembl chrNW_004955442:14,812,566...14,823,224
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G |
Tnxb |
tenascin XB |
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ISO |
ClinVar Annotator: match by term: Myoclonus |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955437:516,713...561,188
Ensembl chrNW_004955437:511,963...553,856
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G |
Atn1 |
atrophin 1 |
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ISO |
ClinVar Annotator: match by term: Dentatorubral-pallidoluysian atrophy |
OMIM ClinVar |
PMID:25741868 |
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NCBI chrNW_004955413:4,511,251...4,524,037
Ensembl chrNW_004955413:4,516,532...4,522,831
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G |
Pidd1 |
p53-induced death domain protein 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 3 |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955476:11,325,877...11,331,447
Ensembl chrNW_004955476:11,326,626...11,331,360
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G |
Slc25a22 |
solute carrier family 25 member 22 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 3 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 3 |
OMIM ClinVar |
PMID:15592994 PMID:18414213 PMID:19780765 PMID:24596948 PMID:25033742 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31589614 More...
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NCBI chrNW_004955476:11,334,508...11,338,781
Ensembl chrNW_004955476:11,334,507...11,338,835
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G |
Brat1 |
BRCA1 associated ATM activator 1 |
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ISO |
ClinVar Annotator: match by term: Dravet syndrome |
ClinVar |
PMID:22279524 PMID:25500575 PMID:25741868 PMID:28492532 PMID:29390993 |
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NCBI chrNW_004955460:12,662,005...12,674,223
Ensembl chrNW_004955460:12,662,779...12,673,287
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G |
Cgn |
cingulin |
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ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:25894286 PMID:28492532 |
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NCBI chrNW_004955589:855,715...881,123
Ensembl chrNW_004955589:856,618...881,150
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G |
Gabrg2 |
gamma-aminobutyric acid type A receptor subunit gamma2 |
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ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
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NCBI chrNW_004955408:15,766,161...15,857,121
Ensembl chrNW_004955408:15,765,984...15,857,244
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G |
Lysmd1 |
LysM domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955588:517,313...526,857
Ensembl chrNW_004955588:517,313...526,856
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G |
Pi4kb |
phosphatidylinositol 4-kinase beta |
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ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955588:648,180...679,374
Ensembl chrNW_004955588:648,180...679,374
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G |
Pip5k1a |
phosphatidylinositol-4-phosphate 5-kinase type 1 alpha |
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ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955588:555,818...605,459
Ensembl chrNW_004955588:555,821...605,723
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G |
Pogz |
pogo transposable element derived with ZNF domain |
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ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:25894286 PMID:28492532 |
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NCBI chrNW_004955589:920,729...975,242
Ensembl chrNW_004955589:920,508...976,366
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G |
Psmb4 |
proteasome 20S subunit beta 4 |
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ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:25894286 PMID:28492532 |
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NCBI chrNW_004955589:976,216...978,566
Ensembl chrNW_004955589:976,321...978,617
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G |
Psmd4 |
proteasome 26S subunit ubiquitin receptor, non-ATPase 4 |
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ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955588:607,763...618,040
Ensembl chrNW_004955588:607,289...618,040
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G |
Rfx5 |
regulatory factor X5 |
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ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:25894286 PMID:28492532 |
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NCBI chrNW_004955588:687,086...695,696
Ensembl chrNW_004955588:689,170...695,695
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G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6A | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 6 | ClinVar Annotator: match by term: Dravet syndrome | ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy 6 | ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
OMIM ClinVar |
PMID:1893009 PMID:1893099 PMID:9536098 PMID:9573403 PMID:10486327 PMID:10521305 PMID:10742094 PMID:11118488 PMID:11254444 PMID:11254445 PMID:11359211 PMID:11524484 PMID:11567038 PMID:11823106 PMID:11940708 PMID:12083760 PMID:12086636 PMID:12566275 PMID:12610651 PMID:12754708 PMID:12821740 PMID:12919402 PMID:14504318 PMID:14672992 PMID:14702334 PMID:14738421 PMID:15087100 PMID:15263074 PMID:15277629 PMID:15508916 PMID:16054936 PMID:16199547 PMID:16210358 PMID:16326807 PMID:16359470 PMID:16380441 PMID:16458823 PMID:16525050 PMID:16541393 PMID:16713913 PMID:16713920 PMID:17000989 PMID:17054684 PMID:17054685 PMID:17166794 PMID:17347258 PMID:17507202 PMID:17537961 PMID:17561957 PMID:17576681 PMID:17903680 PMID:17928445 PMID:18021921 PMID:18031552 PMID:18056581 PMID:18076640 PMID:18413471 PMID:18414213 PMID:18554359 PMID:18566737 PMID:18621678 PMID:18632931 PMID:18680191 PMID:18755274 PMID:18804930 PMID:18930999 PMID:19200853 PMID:19220312 PMID:19236456 PMID:19332696 PMID:19350499 PMID:19359143 PMID:19522081 PMID:19563349 PMID:19563458 PMID:19585586 PMID:19586930 PMID:19589774 PMID:19673951 PMID:19782004 PMID:19809937 PMID:20100831 PMID:20110217 PMID:20117752 PMID:20301494 PMID:20301562 PMID:20431604 PMID:20452746 PMID:20491869 PMID:20522430 PMID:20550552 PMID:20562086 PMID:20600615 PMID:20729507 PMID:20831750 PMID:20879882 PMID:21248271 PMID:21371021 PMID:21396429 PMID:21425109 PMID:21555645 PMID:21703448 PMID:21713554 PMID:21719429 PMID:21753172 PMID:21864321 PMID:21868258 PMID:21906962 PMID:22050978 PMID:22071555 PMID:22092154 PMID:22140375 PMID:22147323 PMID:22150645 PMID:22151702 PMID:22156295 PMID:22409937 PMID:22525008 PMID:22550089 PMID:22612257 PMID:22780858 PMID:22848613 PMID:22944210 PMID:23086956 PMID:23195492 PMID:23398611 PMID:23527921 PMID:23662938 PMID:23708187 PMID:23762420 PMID:23773995 PMID:23808377 PMID:23821540 PMID:23884151 PMID:23895530 PMID:23917401 PMID:23934111 PMID:23945787 PMID:24066114 PMID:24136861 PMID:24155976 PMID:24168886 PMID:24277604 PMID:24328833 PMID:24412860 PMID:24502503 PMID:24656210 PMID:24679980 PMID:24776920 PMID:25206388 PMID:25243660 PMID:25326635 PMID:25348405 PMID:25378155 PMID:25401298 PMID:25459968 PMID:25459969 PMID:25525159 PMID:25576396 PMID:25590135 PMID:25669891 PMID:25741868 PMID:25741869 PMID:25754450 PMID:25818041 PMID:25885068 PMID:25986186 PMID:26096185 PMID:26169758 PMID:26188943 PMID:26232052 PMID:26236192 PMID:26394714 PMID:26467025 PMID:26544041 PMID:26633542 PMID:26699486 PMID:26763045 PMID:26845707 PMID:26990884 PMID:26993267 PMID:27066544 PMID:27113213 PMID:27197941 PMID:27231140 PMID:27236449 PMID:27267376 PMID:27457812 PMID:27465585 PMID:27582020 PMID:27652284 PMID:27781031 PMID:27864847 PMID:27919014 PMID:27959697 PMID:28012175 PMID:28074849 PMID:28079314 PMID:28084635 PMID:28102150 PMID:28148630 PMID:28150151 PMID:28186331 PMID:28192756 PMID:28202706 PMID:28387369 PMID:28488083 PMID:28492532 PMID:28518168 PMID:28544625 PMID:28554332 PMID:28664031 PMID:28708303 PMID:28794249 PMID:28837158 PMID:28864458 PMID:29056246 PMID:29100083 PMID:29141279 PMID:29141311 PMID:29142202 PMID:29145747 PMID:29186148 PMID:29190809 PMID:29314583 PMID:29358611 PMID:29408779 PMID:29460957 PMID:29655203 PMID:29745119 PMID:29760947 PMID:29852413 PMID:29930392 PMID:29933521 PMID:29948376 PMID:29981888 PMID:30034362 PMID:30142967 PMID:30146492 PMID:30182498 PMID:30185235 PMID:30258939 PMID:30311386 PMID:30321769 PMID:30368457 PMID:30498473 PMID:30525188 PMID:30526861 PMID:30577886 PMID:30619928 PMID:30659983 PMID:30735520 PMID:30779207 PMID:30805006 PMID:30868114 PMID:30921204 PMID:30945278 PMID:31001185 PMID:31009440 PMID:31019026 PMID:31031587 PMID:31054490 PMID:31069529 PMID:31102827 PMID:31139143 PMID:31164858 PMID:31439038 PMID:31440721 PMID:31487502 PMID:31618474 PMID:31730442 PMID:31755124 PMID:31765958 PMID:31780880 PMID:31782251 PMID:31791873 PMID:31864146 PMID:31875159 PMID:31880072 PMID:32056211 PMID:32090326 PMID:32238909 PMID:32461654 PMID:32488064 PMID:32538476 PMID:32573669 PMID:32581296 PMID:32581362 PMID:32593896 PMID:32613771 PMID:32702657 PMID:32845893 PMID:33067208 PMID:33084218 PMID:33278787 PMID:33391346 PMID:33411788 PMID:33674996 PMID:34015165 PMID:34107977 PMID:34163418 PMID:34174751 PMID:34268891 PMID:34338318 PMID:34379890 PMID:34489640 PMID:34539730 PMID:34917021 PMID:35072530 PMID:35074891 PMID:35087721 PMID:35571373 PMID:35627257 PMID:35663268 PMID:35696452 PMID:35886038 PMID:36158059 PMID:36229510 PMID:36287100 PMID:36684540 PMID:36820031 PMID:37524782 PMID:39033378 More...
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NCBI chrNW_004955449:8,072,910...8,220,763
Ensembl chrNW_004955449:8,160,986...8,221,951
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G |
Scn1b |
sodium voltage-gated channel beta subunit 1 |
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ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955468:4,375,517...4,383,383
Ensembl chrNW_004955468:4,375,157...4,383,502
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G |
Scn2a |
sodium voltage-gated channel alpha subunit 2 |
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ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
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NCBI chrNW_004955449:8,722,043...8,846,165
Ensembl chrNW_004955449:8,721,784...8,846,200
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G |
Scn9a |
sodium voltage-gated channel alpha subunit 9 |
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ISO |
ClinVar Annotator: match by term: Dravet syndrome | ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:19763161 PMID:21698661 PMID:22136189 PMID:23280954 PMID:23895530 PMID:25250524 PMID:25741868 PMID:25993546 PMID:26264438 PMID:26467025 PMID:26675522 PMID:26920677 PMID:28235406 PMID:28440294 PMID:28492532 PMID:29264398 PMID:29911575 PMID:30316835 PMID:30672368 PMID:37003485 More...
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NCBI chrNW_004955449:7,858,156...8,017,569
Ensembl chrNW_004955449:7,923,801...8,017,569
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G |
Selenbp1 |
selenium binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:25894286 PMID:28492532 |
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NCBI chrNW_004955588:703,928...713,941
Ensembl chrNW_004955588:703,928...714,763
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G |
Snx27 |
sorting nexin 27 |
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ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:25894286 PMID:28492532 PMID:31957018 More...
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NCBI chrNW_004955589:719,892...799,367
Ensembl chrNW_004955589:719,898...799,366
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G |
Tmod4 |
tropomodulin 4 |
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ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955588:530,288...535,789
Ensembl chrNW_004955588:526,380...535,895
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G |
Tnfaip8l2 |
TNF alpha induced protein 8 like 2 |
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ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955588:514,567...517,314
Ensembl chrNW_004955588:514,567...517,314
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G |
Tuft1 |
tuftelin 1 |
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ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:25894286 PMID:28492532 |
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NCBI chrNW_004955589:817,001...854,492
Ensembl chrNW_004955589:817,001...854,492
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G |
Vps72 |
vacuolar protein sorting 72 homolog |
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ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955588:537,122...550,564
Ensembl chrNW_004955588:536,788...551,241
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G |
Znf687 |
zinc finger protein 687 |
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ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955588:639,677...647,978
Ensembl chrNW_004955588:642,521...647,396
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G |
Ccnf |
cyclin F |
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ISO |
ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile |
ClinVar |
PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 PMID:26467025 PMID:27259978 PMID:27281533 PMID:28301460 PMID:28492532 PMID:28951997 PMID:29358611 More...
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NCBI chrNW_004955442:14,864,935...14,890,802
Ensembl chrNW_004955442:14,865,954...14,890,709
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G |
Diras1 |
DIRAS family GTPase 1 |
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ISO |
Epilepsy, generalized myoclonic, with photosensitivity |
OMIA |
PMID:28223533 PMID:29194766 PMID:38003185 |
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NCBI chrNW_004955495:5,002,803...5,005,203
Ensembl chrNW_004955495:5,004,548...5,005,144
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G |
Egr2 |
early growth response 2 |
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ISO |
ClinVar Annotator: match by term: Early myoclonic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955425:16,055,748...16,068,429
Ensembl chrNW_004955425:16,055,748...16,060,048
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G |
Jmjd1c |
jumonji domain containing 1C |
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ISO |
ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22495311 PMID:25741868 PMID:26181491 PMID:28166811 PMID:28492532 PMID:31785789 PMID:31954878 More...
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NCBI chrNW_004955425:16,343,314...16,552,552
Ensembl chrNW_004955425:16,344,141...16,493,527
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G |
Kcnd2 |
potassium voltage-gated channel subfamily D member 2 |
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ISO |
ClinVar Annotator: match by term: Early myoclonic encephalopathy ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19171772 PMID:24501278 PMID:25214526 PMID:25640679 PMID:25741868 PMID:28166811 PMID:28492532 PMID:29581270 PMID:30571183 PMID:31130284 PMID:34245260 PMID:35510384 PMID:35897654 More...
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NCBI chrNW_004955479:2,062,607...2,545,576
Ensembl chrNW_004955479:2,062,608...2,543,125
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G |
Kit |
KIT proto-oncogene, receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955447:16,149,014...16,226,151
Ensembl chrNW_004955447:16,148,605...16,226,734
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G |
Nrbf2 |
nuclear receptor binding factor 2 |
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ISO |
ClinVar Annotator: match by term: Early myoclonic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955425:16,330,115...16,336,798
Ensembl chrNW_004955425:16,330,114...16,340,621
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G |
Opa1 |
OPA1 mitochondrial dynamin like GTPase |
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ISO |
ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile |
ClinVar |
PMID:25326637 PMID:28492532 |
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NCBI chrNW_004955420:14,927,490...15,007,082
Ensembl chrNW_004955420:14,923,575...15,007,081
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G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe |
ClinVar |
PMID:1893099 PMID:9536098 PMID:9573403 PMID:10486327 PMID:10521305 PMID:10742094 PMID:11118488 PMID:11254444 PMID:11254445 PMID:11359211 PMID:11524484 PMID:11567038 PMID:11823106 PMID:11940708 PMID:12083760 PMID:12086636 PMID:12566275 PMID:12610651 PMID:12754708 PMID:12821740 PMID:12919402 PMID:14504318 PMID:14672992 PMID:14702334 PMID:14738421 PMID:15263074 PMID:15277629 PMID:15508916 PMID:16199547 PMID:16210358 PMID:16359470 PMID:16380441 PMID:16458823 PMID:16525050 PMID:16541393 PMID:16713913 PMID:16713920 PMID:17054684 PMID:17054685 PMID:17166794 PMID:17347258 PMID:17507202 PMID:17537961 PMID:17561957 PMID:17576681 PMID:17903680 PMID:17928445 PMID:18021921 PMID:18031552 PMID:18056581 PMID:18076640 PMID:18413471 PMID:18414213 PMID:18554359 PMID:18566737 PMID:18621678 PMID:18755274 PMID:18804930 PMID:18930999 PMID:19200853 PMID:19220312 PMID:19236456 PMID:19332696 PMID:19350499 PMID:19359143 PMID:19522081 PMID:19563349 PMID:19563458 PMID:19585586 PMID:19586930 PMID:19589774 PMID:19673951 PMID:19782004 PMID:19809937 PMID:20100831 PMID:20110217 PMID:20117752 PMID:20301494 PMID:20301562 PMID:20431604 PMID:20452746 PMID:20522430 PMID:20550552 PMID:20562086 PMID:20600615 PMID:20729507 PMID:20879882 PMID:21248271 PMID:21371021 PMID:21396429 PMID:21425109 PMID:21555645 PMID:21703448 PMID:21713554 PMID:21719429 PMID:21864321 PMID:21868258 PMID:21906962 PMID:22050978 PMID:22071555 PMID:22092154 PMID:22140375 PMID:22147323 PMID:22150645 PMID:22151702 PMID:22156295 PMID:22409937 PMID:22525008 PMID:22550089 PMID:22612257 PMID:22780858 PMID:22848613 PMID:22944210 PMID:23086956 PMID:23195492 PMID:23398611 PMID:23527921 PMID:23662938 PMID:23708187 PMID:23762420 PMID:23808377 PMID:23821540 PMID:23884151 PMID:23895530 PMID:23917401 PMID:23934111 PMID:23945787 PMID:24066114 PMID:24136861 PMID:24155976 PMID:24168886 PMID:24277604 PMID:24328833 PMID:24412860 PMID:24502503 PMID:24656210 PMID:24679980 PMID:24776920 PMID:25206388 PMID:25243660 PMID:25326635 PMID:25348405 PMID:25378155 PMID:25401298 PMID:25459968 PMID:25459969 PMID:25525159 PMID:25576396 PMID:25590135 PMID:25669891 PMID:25741868 PMID:25754450 PMID:25818041 PMID:25885068 PMID:25986186 PMID:26096185 PMID:26169758 PMID:26188943 PMID:26232052 PMID:26236192 PMID:26467025 PMID:26544041 PMID:26633542 PMID:26699486 PMID:26763045 PMID:26845707 PMID:26990884 PMID:26993267 PMID:27066544 PMID:27113213 PMID:27197941 PMID:27231140 PMID:27236449 PMID:27267376 PMID:27465585 PMID:27652284 PMID:27781031 PMID:27864847 PMID:27959697 PMID:28012175 PMID:28074849 PMID:28079314 PMID:28084635 PMID:28102150 PMID:28148630 PMID:28150151 PMID:28186331 PMID:28192756 PMID:28202706 PMID:28387369 PMID:28488083 PMID:28492532 PMID:28518168 PMID:28544625 PMID:28554332 PMID:28590052 PMID:28664031 PMID:28708303 PMID:28794249 PMID:28837158 PMID:28864458 PMID:29056246 PMID:29100083 PMID:29141279 PMID:29141311 PMID:29142202 PMID:29145747 PMID:29186148 PMID:29190809 PMID:29314583 PMID:29358611 PMID:29408779 PMID:29460957 PMID:29655203 PMID:29745119 PMID:29760947 PMID:29852413 PMID:29930392 PMID:29933521 PMID:29948376 PMID:29981888 PMID:30034362 PMID:30146492 PMID:30182498 PMID:30185235 PMID:30258939 PMID:30311386 PMID:30321769 PMID:30368457 PMID:30498473 PMID:30525188 PMID:30526861 PMID:30577886 PMID:30619928 PMID:30659983 PMID:30779207 PMID:30805006 PMID:30868114 PMID:30921204 PMID:30945278 PMID:31001185 PMID:31009440 PMID:31019026 PMID:31031587 PMID:31054490 PMID:31069529 PMID:31164858 PMID:31440721 PMID:31487502 PMID:31618474 PMID:31730442 PMID:31755124 PMID:31765958 PMID:31780880 PMID:31782251 PMID:31791873 PMID:31864146 PMID:31875159 PMID:31880072 PMID:32056211 PMID:32090326 PMID:32238909 PMID:32461654 PMID:32538476 PMID:32573669 PMID:32581296 PMID:32581362 PMID:32593896 PMID:32613771 PMID:32702657 PMID:32845893 PMID:33067208 PMID:33084218 PMID:33278787 PMID:33391346 PMID:33411788 PMID:33674996 PMID:34015165 PMID:34107977 PMID:34163418 PMID:34268891 PMID:34338318 PMID:34379890 PMID:34489640 PMID:34539730 PMID:35072530 PMID:35074891 PMID:35087721 PMID:35571373 PMID:35627257 PMID:35663268 PMID:36158059 PMID:36287100 PMID:36684540 PMID:37524782 PMID:39033378 More...
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NCBI chrNW_004955449:8,072,910...8,220,763
Ensembl chrNW_004955449:8,160,986...8,221,951
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Scn9a |
sodium voltage-gated channel alpha subunit 9 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe |
ClinVar |
PMID:19763161 PMID:21698661 PMID:22136189 PMID:23280954 PMID:23895530 PMID:25250524 PMID:25741868 PMID:25993546 PMID:26264438 PMID:26467025 PMID:26675522 PMID:26920677 PMID:28235406 PMID:28440294 PMID:28492532 PMID:29264398 PMID:29911575 PMID:30316835 PMID:30672368 PMID:37003485 More...
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NCBI chrNW_004955449:7,858,156...8,017,569
Ensembl chrNW_004955449:7,923,801...8,017,569
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Slc25a22 |
solute carrier family 25 member 22 |
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ISO |
ClinVar Annotator: match by term: Early myoclonic encephalopathy ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe |
ClinVar |
PMID:15592994 PMID:18414213 PMID:19780765 PMID:25033742 PMID:25741868 PMID:26467025 PMID:27843123 PMID:27864847 PMID:28454995 PMID:28492532 PMID:29924869 More...
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NCBI chrNW_004955476:11,334,508...11,338,781
Ensembl chrNW_004955476:11,334,507...11,338,835
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Snx27 |
sorting nexin 27 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955589:719,892...799,367
Ensembl chrNW_004955589:719,898...799,366
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Tbc1d24 |
TBC1 domain family member 24 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile |
ClinVar |
PMID:18414213 PMID:22277662 PMID:23526554 PMID:24033266 PMID:24291220 PMID:24848745 PMID:25741868 PMID:25769375 PMID:26371875 PMID:26467025 PMID:27259978 PMID:27281533 PMID:28292732 PMID:28301460 PMID:28428906 PMID:28492532 PMID:28726039 PMID:28951997 PMID:29358611 PMID:30180405 PMID:30311386 PMID:30776697 PMID:31112829 PMID:31216405 PMID:32004315 PMID:33619735 More...
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NCBI chrNW_004955442:14,816,213...14,823,132
Ensembl chrNW_004955442:14,812,566...14,823,224
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Tspan12 |
tetraspanin 12 |
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ISO |
ClinVar Annotator: match by term: Early myoclonic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955479:2,570,937...2,636,884
Ensembl chrNW_004955479:2,570,937...2,635,857
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Samd12 |
sterile alpha motif domain containing 12 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 1 |
OMIM ClinVar |
PMID:25741868 |
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NCBI chrNW_004955417:24,137,340...24,541,572
Ensembl chrNW_004955417:24,145,264...24,541,599
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Adra2b |
adrenoceptor alpha 2B |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 2 |
ClinVar |
PMID:25741868 PMID:27124789 PMID:27431290 PMID:31130284 PMID:37644014 |
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NCBI chrNW_004955470:3,711,075...3,714,450
Ensembl chrNW_004955470:3,711,031...3,714,241
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Stard7 |
StAR related lipid transfer domain containing 7 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 2 |
OMIM ClinVar |
PMID:25741868 |
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NCBI chrNW_004955470:3,771,410...3,790,667
Ensembl chrNW_004955470:3,770,817...3,790,667
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Marchf6 |
membrane associated ring-CH-type finger 6 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 3 |
OMIM ClinVar |
PMID:25741868 |
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NCBI chrNW_004955426:228,807...278,888
Ensembl chrNW_004955426:228,788...278,888
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Yeats2 |
YEATS domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 4 | ClinVar Annotator: match by term: YEATS2-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955420:23,590,636...23,666,689
Ensembl chrNW_004955420:23,589,071...23,666,680
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Adipor1 |
adiponectin receptor 1 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:38,939,167...38,955,647
Ensembl chrNW_004955406:38,936,588...38,955,352
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Adora1 |
adenosine A1 receptor |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:39,148,811...39,183,577
Ensembl chrNW_004955406:39,149,689...39,187,688
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Arl8a |
ARF like GTPase 8A |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:38,223,115...38,226,563
Ensembl chrNW_004955406:38,224,124...38,226,542
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Ascl5 |
achaete-scute family bHLH transcription factor 5 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:37,264,753...37,265,337
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Atp2b4 |
ATPase plasma membrane Ca2+ transporting 4 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:39,552,034...39,645,694
Ensembl chrNW_004955406:39,552,019...39,645,694
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Avpr1b |
arginine vasopressin receptor 1B |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:41,706,088...41,716,173
Ensembl chrNW_004955406:41,705,305...41,716,173
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Btg2 |
BTG anti-proliferation factor 2 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:39,303,221...39,307,308
Ensembl chrNW_004955406:39,303,175...39,308,778
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Cacna1s |
calcium voltage-gated channel subunit alpha1 S |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:37,201,180...37,263,328
Ensembl chrNW_004955406:37,201,180...37,263,371
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Camsap2 |
calmodulin regulated spectrin associated protein family member 2 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:36,958,337...37,055,748
Ensembl chrNW_004955406:36,957,523...37,055,748
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Cdk18 |
cyclin dependent kinase 18 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:41,228,802...41,256,413
Ensembl chrNW_004955406:41,228,678...41,252,543
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Chi3l1 |
chitinase 3 like 1 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:39,195,101...39,201,808
Ensembl chrNW_004955406:39,191,073...39,202,020
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Chit1 |
chitinase 1 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:39,229,161...39,253,328
Ensembl chrNW_004955406:39,229,356...39,241,540
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Cntn2 |
contactin 2 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
OMIM ClinVar |
PMID:9536098 PMID:11178983 PMID:16199547 PMID:17576681 PMID:23518707 PMID:25741868 PMID:28492532 PMID:34691156 PMID:37359369 More...
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NCBI chrNW_004955406:40,831,897...40,862,445
Ensembl chrNW_004955406:40,831,850...40,858,569
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Csrp1 |
cysteine and glycine rich protein 1 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:37,595,481...37,615,384
Ensembl chrNW_004955406:37,595,420...37,615,612
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Ctse |
cathepsin E |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:41,641,412...41,653,261
Ensembl chrNW_004955406:41,641,311...41,653,296
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Ddx59 |
DEAD-box helicase 59 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:36,861,420...36,885,746
Ensembl chrNW_004955406:36,861,259...36,885,746
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Dstyk |
dual serine/threonine and tyrosine protein kinase |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:40,922,972...40,971,433
Ensembl chrNW_004955406:40,922,972...40,971,582
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Dyrk3 |
dual specificity tyrosine phosphorylation regulated kinase 3 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:42,190,043...42,199,323
Ensembl chrNW_004955406:42,190,043...42,199,730
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Eif2d |
eukaryotic translation initiation factor 2D |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:42,163,508...42,181,482
Ensembl chrNW_004955406:42,163,632...42,181,337
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Elf3 |
E74 like ETS transcription factor 3 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:38,126,633...38,131,292
Ensembl chrNW_004955406:38,126,349...38,132,123
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Elk4 |
ETS transcription factor ELK4 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:41,325,921...41,333,503
Ensembl chrNW_004955406:41,325,921...41,334,359
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Etnk2 |
ethanolamine kinase 2 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:39,996,850...40,013,753
Ensembl chrNW_004955406:39,996,850...40,013,753
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Fam72a |
family with sequence similarity 72 member A |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:41,788,278...41,801,141
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Fmod |
fibromodulin |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:39,328,743...39,340,113
Ensembl chrNW_004955406:39,328,743...39,340,258
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Golt1a |
golgi transport 1A |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:40,049,060...40,061,902
Ensembl chrNW_004955406:40,050,069...40,053,369
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Gpr25 |
G protein-coupled receptor 25 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:37,065,511...37,066,771
Ensembl chrNW_004955406:37,065,610...37,066,674
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Gpr37l1 |
G protein-coupled receptor 37 like 1 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:38,214,490...38,223,281
Ensembl chrNW_004955406:38,214,423...38,223,281
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Igfn1 |
immunoglobulin like and fibronectin type III domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:37,332,936...37,363,694
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Ikbke |
inhibitor of nuclear factor kappa B kinase subunit epsilon |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:42,056,014...42,077,701
Ensembl chrNW_004955406:42,056,014...42,077,701
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Il10 |
interleukin 10 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
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Inava |
innate immunity activator |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:37,086,302...37,107,221
Ensembl chrNW_004955406:37,086,302...37,107,221
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Ipo9 |
importin 9 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:37,898,415...37,946,991
Ensembl chrNW_004955406:37,897,864...37,946,991
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Kdm5b |
lysine demethylase 5B |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:38,755,220...38,823,094
Ensembl chrNW_004955406:38,755,220...38,823,088
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Kif14 |
kinesin family member 14 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:36,732,135...36,791,756
Ensembl chrNW_004955406:36,737,484...36,791,756
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Kif21b |
kinesin family member 21B |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:37,139,168...37,187,543
Ensembl chrNW_004955406:37,139,168...37,187,543
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Kiss1 |
KiSS-1 metastasis suppressor |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:40,043,139...40,045,973
Ensembl chrNW_004955406:40,043,133...40,045,386
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Klhdc8a |
kelch domain containing 8A |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:41,080,154...41,087,381
Ensembl chrNW_004955406:41,077,925...41,087,574
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Klhl12 |
kelch like family member 12 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:38,903,233...38,931,756
Ensembl chrNW_004955406:38,900,022...38,931,374
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Lad1 |
ladinin 1 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:37,510,675...37,526,178
Ensembl chrNW_004955406:37,510,298...37,526,225
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Lax1 |
lymphocyte transmembrane adaptor 1 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:39,656,549...39,667,448
Ensembl chrNW_004955406:39,656,128...39,670,244
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Lemd1 |
LEM domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:41,126,284...41,181,007
Ensembl chrNW_004955406:41,126,359...41,153,742
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Lgr6 |
leucine rich repeat containing G protein-coupled receptor 6 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:38,274,998...38,381,677
Ensembl chrNW_004955406:38,274,958...38,383,822
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Lmod1 |
leiomodin 1 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:37,967,098...38,012,908
Ensembl chrNW_004955406:37,964,643...38,013,405
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LOC102004351 |
NADH-cytochrome b5 reductase 1 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:38,958,766...38,964,597
Ensembl chrNW_004955406:38,955,997...38,965,127
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G |
Lrrn2 |
leucine rich repeat neuronal 2 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:40,442,680...40,499,945
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Mapkapk2 |
MAPK activated protein kinase 2 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:42,231,858...42,276,477
Ensembl chrNW_004955406:42,231,858...42,276,477
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Mdm4 |
MDM4 regulator of p53 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:40,346,617...40,387,977
Ensembl chrNW_004955406:40,346,588...40,387,977
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Mfsd4a |
major facilitator superfamily domain containing 4A |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:41,286,679...41,315,666
Ensembl chrNW_004955406:41,286,679...41,322,158
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Mybph |
myosin binding protein H |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:39,174,864...39,191,969
Ensembl chrNW_004955406:39,184,691...39,191,741
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Myog |
myogenin |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:39,099,044...39,102,479
Ensembl chrNW_004955406:39,099,716...39,102,501
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G |
Nav1 |
neuron navigator 1 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:37,644,715...37,896,759
Ensembl chrNW_004955406:37,644,421...37,890,151
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Nfasc |
neurofascin |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:40,632,971...40,814,930
Ensembl chrNW_004955406:40,743,872...40,808,962
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G |
Nuak2 |
NUAK family kinase 2 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:41,050,396...41,069,066
Ensembl chrNW_004955406:41,051,419...41,069,066
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Nucks1 |
nuclear casein kinase and cyclin dependent kinase substrate 1 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:41,412,855...41,448,551
Ensembl chrNW_004955406:41,417,983...41,449,177
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Optc |
opticin |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:39,446,875...39,458,571
Ensembl chrNW_004955406:39,445,677...39,453,906
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G |
Phlda3 |
pleckstrin homology like domain family A member 3 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:37,579,006...37,582,230
Ensembl chrNW_004955406:37,579,006...37,582,230
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G |
Pik3c2b |
phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:40,247,690...40,317,556
Ensembl chrNW_004955406:40,247,382...40,317,556
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Pkp1 |
plakophilin 1 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:37,420,019...37,465,588
Ensembl chrNW_004955406:37,419,856...37,465,655
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Plekha6 |
pleckstrin homology domain containing A6 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:40,066,260...40,200,629
Ensembl chrNW_004955406:40,066,206...40,134,597
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Pm20d1 |
peptidase M20 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:41,522,800...41,544,332
Ensembl chrNW_004955406:41,518,526...41,544,348
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Ppfia4 |
PTPRF interacting protein alpha 4 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:39,047,069...39,094,663
Ensembl chrNW_004955406:39,047,019...39,092,597
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Ppp1r12b |
protein phosphatase 1 regulatory subunit 12B |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:38,405,297...38,636,503
Ensembl chrNW_004955406:38,405,535...38,629,688
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Ppp1r15b |
protein phosphatase 1 regulatory subunit 15B |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:40,232,516...40,238,711
Ensembl chrNW_004955406:40,232,607...40,238,901
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Prelp |
proline and arginine rich end leucine rich repeat protein |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:39,429,845...39,442,577
Ensembl chrNW_004955406:39,429,690...39,443,299
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Ptpn7 |
protein tyrosine phosphatase non-receptor type 7 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:38,233,409...38,249,940
Ensembl chrNW_004955406:38,232,589...38,250,195
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Rab29 |
RAB29, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:41,452,733...41,468,467
Ensembl chrNW_004955406:41,462,534...41,468,948
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Rabif |
RAB interacting factor |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:38,883,050...38,893,012
Ensembl chrNW_004955406:38,883,050...38,893,251
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G |
Rassf5 |
Ras association domain family member 5 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955406:42,086,081...42,159,204
Ensembl chrNW_004955406:42,086,081...42,159,204
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G |
Rbbp5 |
RB binding protein 5, histone lysine methyltransferase complex subunit |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:40,868,290...40,904,343
Ensembl chrNW_004955406:40,867,527...40,904,349
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Ren |
renin |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955406:40,016,624...40,026,286
Ensembl chrNW_004955406:40,016,630...40,026,286
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Rhex |
regulator of hemoglobinization and erythroid cell expansion |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:41,687,577...41,703,282
Ensembl chrNW_004955406:41,687,455...41,705,014
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G |
Rnpep |
arginyl aminopeptidase |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:38,103,701...38,122,162
Ensembl chrNW_004955406:38,103,426...38,122,358
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Shisa4 |
shisa family member 4 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:37,959,156...37,961,972
Ensembl chrNW_004955406:37,957,326...37,962,468
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Slc26a9 |
solute carrier family 26 member 9 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:41,559,424...41,587,748
Ensembl chrNW_004955406:41,557,275...41,582,753
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Slc41a1 |
solute carrier family 41 member 1 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:41,481,831...41,502,992
Ensembl chrNW_004955406:41,481,831...41,502,992
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Slc45a3 |
solute carrier family 45 member 3 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:41,362,077...41,381,981
Ensembl chrNW_004955406:41,360,380...41,382,115
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Snrpe |
small nuclear ribonucleoprotein polypeptide E |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:39,725,841...39,732,527
Ensembl chrNW_004955406:39,725,446...39,734,586
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Sox13 |
SRY-box transcription factor 13 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:39,959,458...39,994,214
Ensembl chrNW_004955406:39,966,055...39,994,214
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Srgap2 |
SLIT-ROBO Rho GTPase activating protein 2 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:41,801,235...42,050,731
Ensembl chrNW_004955406:41,801,235...42,050,731
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Syt2 |
synaptotagmin 2 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:38,638,192...38,743,077
Ensembl chrNW_004955406:38,643,911...38,743,222
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Timm17a |
translocase of inner mitochondrial membrane 17A |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:38,020,886...38,031,651
Ensembl chrNW_004955406:38,020,850...38,031,651
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Tmcc2 |
transmembrane and coiled-coil domain family 2 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:40,985,771...41,025,929
Ensembl chrNW_004955406:40,985,478...41,025,955
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Tmem183a |
transmembrane protein 183A |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955406:39,029,390...39,044,502
Ensembl chrNW_004955406:39,029,390...39,046,339
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Tmem81 |
transmembrane protein 81 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955406:40,865,574...40,867,602
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Tmem9 |
transmembrane protein 9 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955406:37,279,885...37,299,196
Ensembl chrNW_004955406:37,279,694...37,314,251
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Tnni1 |
troponin I1, slow skeletal type |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:37,535,397...37,554,868
Ensembl chrNW_004955406:37,534,453...37,554,868
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Tnnt2 |
troponin T2, cardiac type |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955406:37,491,462...37,507,360
Ensembl chrNW_004955406:37,487,154...37,507,639
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Ube2t |
ubiquitin conjugating enzyme E2 T |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955406:38,391,824...38,400,946
Ensembl chrNW_004955406:38,391,785...38,400,995
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Zbed6 |
zinc finger BED-type containing 6 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955406:39,679,365...39,683,454
Ensembl chrNW_004955406:39,680,253...39,683,192
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Zc3h11a |
zinc finger CCCH-type containing 11A |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955406:39,678,544...39,718,062
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Tnrc6a |
trinucleotide repeat containing adaptor 6A |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 6 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955493:3,057,035...3,243,668
Ensembl chrNW_004955493:3,090,088...3,243,731
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Rapgef2 |
Rap guanine nucleotide exchange factor 2 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 7 |
ClinVar OMIM |
PMID:25741868 |
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NCBI chrNW_004955471:12,670,837...12,838,910
Ensembl chrNW_004955471:12,670,764...12,815,430
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Pdcd10 |
programmed cell death 10 |
|
ISO |
ClinVar Annotator: match by term: Encephalopathy, familial, with Collins bodies | ClinVar Annotator: match by term: Familial encephalopathy with neuroserpin inclusion bodies |
ClinVar |
PMID:15543491 PMID:18300272 PMID:23801932 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955448:16,866,577...16,887,215
Ensembl chrNW_004955448:16,864,031...16,887,626
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Serpinb7 |
serpin family B member 7 |
|
ISO |
|
RGD |
PMID:16782060 |
RGD:7207386 |
NCBI chrNW_004955402:47,599,503...47,649,537
Ensembl chrNW_004955402:47,599,150...47,649,885
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Serpini1 |
serpin family I member 1 |
|
ISO |
ClinVar Annotator: match by term: Encephalopathy, familial, with Collins bodies | ClinVar Annotator: match by term: Familial encephalopathy with neuroserpin inclusion bodies |
OMIM ClinVar |
PMID:9536098 PMID:11138927 PMID:11880376 PMID:12103288 PMID:15090543 PMID:15543491 PMID:16199547 PMID:17576681 PMID:18300272 PMID:18591508 PMID:18940798 PMID:19549782 PMID:21435071 PMID:23801932 PMID:23814041 PMID:25401298 PMID:25741868 PMID:26367528 PMID:26467025 PMID:28363799 PMID:28492532 PMID:28518168 PMID:28631894 PMID:29249370 PMID:32461654 More...
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NCBI chrNW_004955448:16,947,375...16,982,114
Ensembl chrNW_004955448:16,947,403...16,984,130
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Nol3 |
nucleolar protein 3 |
|
ISO |
ClinVar Annotator: match by term: Myoclonus, familial, 1 |
OMIM ClinVar |
PMID:22926851 PMID:25741868 |
|
NCBI chrNW_004955484:9,443,090...9,447,142
Ensembl chrNW_004955484:9,443,090...9,447,095
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Scn8a |
sodium voltage-gated channel alpha subunit 8 |
|
ISO |
ClinVar Annotator: match by term: Myoclonus, familial, 2 |
OMIM ClinVar |
PMID:25741868 PMID:26467025 PMID:27875746 PMID:28492532 PMID:29726066 PMID:30951195 More...
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NCBI chrNW_004955547:2,086,215...2,201,300
Ensembl chrNW_004955547:2,086,178...2,195,971
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Clcn2 |
chloride voltage-gated channel 2 |
susceptibility |
ISO |
ClinVar Annotator: match by term: EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 11 |
ClinVar OMIM |
PMID:1521363 PMID:12612585 PMID:15252188 PMID:15505175 PMID:16199547 PMID:16932951 PMID:17567819 PMID:17762171 PMID:19191339 PMID:19200853 PMID:19710712 PMID:19861545 PMID:21703448 PMID:23542698 PMID:23632988 PMID:23707145 PMID:25741868 PMID:25907736 PMID:28488083 PMID:28492532 PMID:29403011 PMID:31589614 PMID:32906206 More...
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NCBI chrNW_004955420:23,138,558...23,152,462
Ensembl chrNW_004955420:23,138,605...23,152,311
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G |
Gabra1 |
gamma-aminobutyric acid type A receptor subunit alpha1 |
|
ISO |
ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 | ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 13 |
OMIM ClinVar |
PMID:11992121 PMID:16530959 PMID:16569738 PMID:18414213 PMID:18534981 PMID:20551311 PMID:21714819 PMID:24623842 PMID:25741868 PMID:26467025 PMID:26918889 PMID:27353043 PMID:27521439 PMID:28251550 PMID:28492532 PMID:28837158 PMID:29655203 PMID:32238909 More...
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NCBI chrNW_004955408:15,608,984...15,662,309
Ensembl chrNW_004955408:15,608,984...15,662,597
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Chrna7 |
cholinergic receptor nicotinic alpha 7 subunit |
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ISO |
ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7 |
ClinVar |
PMID:25326635 PMID:25741868 |
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NCBI chrNW_004955416:30,687,518...30,798,700
Ensembl chrNW_004955416:30,687,478...30,798,700
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Efhc1 |
EF-hand domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955411:5,624,510...5,676,165
Ensembl chrNW_004955411:5,624,053...5,677,534
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Scn3a |
sodium voltage-gated channel alpha subunit 3 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7 |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955449:8,896,454...9,009,304
Ensembl chrNW_004955449:8,896,454...9,009,304
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Sdha |
succinate dehydrogenase complex flavoprotein subunit A |
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ISO |
ClinVar Annotator: match by term: Infantile polymyoclonus |
ClinVar |
PMID:22955521 PMID:22974104 PMID:24781757 PMID:25720320 PMID:25741868 PMID:28492532 PMID:29177515 PMID:29978154 PMID:30854332 PMID:30877234 PMID:31589614 PMID:31981491 PMID:32581362 PMID:33854214 More...
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NCBI chrNW_004955504:36,939...66,507
Ensembl chrNW_004955504:36,911...70,494
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Brd2 |
bromodomain containing 2 |
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ISO |
DNA:SNPs:promoter (human) |
RGD |
PMID:12830434 |
RGD:1358444 |
NCBI chrNW_004955437:1,584,890...1,592,486
Ensembl chrNW_004955437:1,584,479...1,592,826
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Cacna1g |
calcium voltage-gated channel subunit alpha1 G |
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ISO |
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy |
ClinVar |
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NCBI chrNW_004955451:11,136,885...11,194,321
Ensembl chrNW_004955451:11,137,214...11,194,036
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Cacnb4 |
calcium voltage-gated channel auxiliary subunit beta 4 |
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ISO |
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy |
ClinVar |
PMID:10762541 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chrNW_004955440:17,364,996...17,497,446
Ensembl chrNW_004955440:17,371,321...17,497,616
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Caprin1 |
cell cycle associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy |
ClinVar |
PMID:25741868 PMID:35979925 |
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NCBI chrNW_004955422:12,126,893...12,170,877
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Chrna1 |
cholinergic receptor nicotinic alpha 1 subunit |
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ISO |
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955449:661,310...683,873
Ensembl chrNW_004955449:661,304...683,873
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Efhc1 |
EF-hand domain containing 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: EJM1 | ClinVar Annotator: match by term: Janz syndrome | ClinVar Annotator: match by term: Juvenile myoclonic epilepsy | ClinVar Annotator: match by term: Myoclonic Epilepsy, Juvenile, 1 |
OMIM ClinVar |
PMID:8737649 PMID:9536098 PMID:12439895 PMID:15258581 PMID:16199547 PMID:16839746 PMID:17054699 PMID:17159113 PMID:17576681 PMID:17634063 PMID:18414213 PMID:18505993 PMID:18823326 PMID:20981092 PMID:22226147 PMID:22690745 PMID:22727576 PMID:22926142 PMID:23527921 PMID:24965021 PMID:25108116 PMID:25326635 PMID:25489633 PMID:25625532 PMID:25741868 PMID:26467025 PMID:27467453 PMID:28370826 PMID:28492532 PMID:29750216 PMID:34426522 More...
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NCBI chrNW_004955411:5,624,510...5,676,165
Ensembl chrNW_004955411:5,624,053...5,677,534
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Gabra1 |
gamma-aminobutyric acid type A receptor subunit alpha1 |
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ISO |
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy |
ClinVar |
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NCBI chrNW_004955408:15,608,984...15,662,309
Ensembl chrNW_004955408:15,608,984...15,662,597
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Hsd17b3 |
hydroxysteroid 17-beta dehydrogenase 3 |
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ISO |
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy |
ClinVar |
PMID:27899157 PMID:28492532 PMID:33468338 PMID:35432193 PMID:36110220 PMID:37741351 More...
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NCBI chrNW_004955422:23,104,752...23,251,250
Ensembl chrNW_004955422:23,101,795...23,148,999
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Jrk |
Jrk helix-turn-helix protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11463517 |
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NCBI chrNW_004955454:1,415,811...1,423,705
Ensembl chrNW_004955454:1,415,811...1,423,705
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Cilk1 |
ciliogenesis associated kinase 1 |
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ISO |
ClinVar Annotator: match by term: CILK1-related condition |
ClinVar OMIM |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955411:2,997,726...3,065,106
Ensembl chrNW_004955411:3,019,525...3,068,090
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Epm2a |
EPM2A glucan phosphatase, laforin |
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ISO |
ClinVar Annotator: match by term: Lafora disease |
ClinVar |
PMID:9771710 PMID:9931343 PMID:10932264 PMID:11175283 PMID:11735300 PMID:12019207 PMID:14532330 PMID:14706656 PMID:16021330 PMID:16134145 PMID:16199547 PMID:17010495 PMID:17389303 PMID:20738377 PMID:21623095 PMID:25246353 PMID:25544560 PMID:25741868 PMID:26467025 PMID:27843123 PMID:28492532 PMID:33773408 PMID:34568804 PMID:34755096 More...
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NCBI chrNW_004955436:14,925,452...14,982,357
Ensembl chrNW_004955436:14,926,123...14,983,180
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Nhlrc1 |
NHL repeat containing E3 ubiquitin protein ligase 1 |
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ISO |
ClinVar Annotator: match by term: Epilepsy progressive myoclonic 2 | ClinVar Annotator: match by term: Lafora disease |
ClinVar |
PMID:12958597 PMID:12960212 PMID:15781812 PMID:15930137 PMID:16021330 PMID:16134145 PMID:16190947 PMID:16311711 PMID:16529633 PMID:16950819 PMID:17389303 PMID:17952067 PMID:18029386 PMID:18256682 PMID:18263761 PMID:18311786 PMID:18414213 PMID:19267391 PMID:19322595 PMID:19744044 PMID:20301563 PMID:20738377 PMID:21505799 PMID:22047982 PMID:22815132 PMID:23317923 PMID:23806086 PMID:24452334 PMID:25270369 PMID:25401298 PMID:25667860 PMID:25683376 PMID:25741868 PMID:26467025 PMID:27054081 PMID:27194917 PMID:28492532 PMID:28556688 PMID:29431110 PMID:29588937 PMID:29655203 PMID:29899791 PMID:30701169 PMID:31227012 PMID:31758957 PMID:31858178 PMID:32587944 More...
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NCBI chrNW_004955483:8,078,796...8,079,612
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Tpmt |
thiopurine S-methyltransferase |
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ISO |
ClinVar Annotator: match by term: Lafora disease |
ClinVar |
PMID:15781812 PMID:17389303 PMID:23317923 PMID:28492532 |
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NCBI chrNW_004955483:8,052,867...8,072,235
Ensembl chrNW_004955483:8,052,849...8,072,764
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Il1a |
interleukin 1 alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
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NCBI chrNW_004955470:1,527,710...1,538,418
Ensembl chrNW_004955470:1,527,674...1,538,466
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Il1b |
interleukin 1 beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
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NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
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Adsl |
adenylosuccinate lyase |
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ISO |
ClinVar Annotator: match by term: Generalized myoclonic seizures |
ClinVar |
PMID:10888601 PMID:17188615 PMID:18524658 PMID:20127976 PMID:22180458 PMID:25741868 PMID:28492532 PMID:31467849 PMID:31623504 PMID:33648541 More...
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NCBI chrNW_004955413:26,067,463...26,084,669
Ensembl chrNW_004955413:26,067,516...26,088,527
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Atp2b2 |
ATPase plasma membrane Ca2+ transporting 2 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chrNW_004955561:1,727,935...1,851,907
Ensembl chrNW_004955561:1,727,935...1,851,907
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Brk1 |
BRICK1 subunit of SCAR/WAVE actin nucleating complex |
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ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chrNW_004955561:1,545,921...1,554,423
Ensembl chrNW_004955561:1,545,576...1,554,618
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Chd2 |
chromodomain helicase DNA binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy |
ClinVar |
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NCBI chrNW_004955416:21,085,570...21,210,321
Ensembl chrNW_004955416:21,085,570...21,210,321
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Chrna2 |
cholinergic receptor nicotinic alpha 2 subunit |
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ISO |
ClinVar Annotator: match by term: myoclonic epilepsy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955403:49,970,398...49,989,095
Ensembl chrNW_004955403:49,970,398...49,989,137
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Cstb |
cystatin B |
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ISO |
ClinVar Annotator: match by term: Myoclonus epilepsy |
ClinVar |
PMID:8596935 PMID:9054946 PMID:9342192 PMID:15329070 PMID:15483648 PMID:16155205 PMID:17920138 PMID:18028412 PMID:18925453 PMID:20078424 PMID:21757863 PMID:22936898 PMID:25741868 PMID:26467025 PMID:26843564 PMID:28492532 PMID:29358611 More...
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NCBI chrNW_004955407:41,475,533...41,478,943
Ensembl chrNW_004955407:41,475,533...41,479,150
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Epm2a |
EPM2A glucan phosphatase, laforin |
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ISO |
ClinVar Annotator: match by term: Myoclonus epilepsy |
ClinVar |
PMID:9771710 PMID:9931343 PMID:11175283 PMID:12019207 PMID:14532330 PMID:20738377 PMID:21623095 PMID:25246353 PMID:25741868 PMID:26467025 PMID:28492532 PMID:33773408 PMID:34755096 More...
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NCBI chrNW_004955436:14,925,452...14,982,357
Ensembl chrNW_004955436:14,926,123...14,983,180
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Fancd2 |
FA complementation group D2 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chrNW_004955561:1,460,080...1,538,026
Ensembl chrNW_004955561:1,464,869...1,538,045
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Fancd2os |
FANCD2 opposite strand |
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ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chrNW_004955561:1,538,960...1,542,130
Ensembl chrNW_004955561:1,538,960...1,542,130
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Ghrl |
ghrelin and obestatin prepropeptide |
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ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chrNW_004955561:1,676,475...1,682,205
Ensembl chrNW_004955561:1,676,576...1,681,812
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Gosr2 |
golgi SNAP receptor complex member 2 |
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ISO |
ClinVar Annotator: match by term: Myoclonus epilepsy |
ClinVar |
PMID:16199547 PMID:21549339 PMID:25326637 PMID:25741868 PMID:28492532 PMID:31440721 PMID:34167170 PMID:37895210 More...
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NCBI chrNW_004955478:10,868,912...10,889,405
Ensembl chrNW_004955478:10,868,912...10,889,405
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Hnrnpu |
heterogeneous nuclear ribonucleoprotein U |
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ISO |
ClinVar Annotator: match by term: Myoclonic absence seizure |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955406:8,000,269...8,021,554
Ensembl chrNW_004955406:8,000,269...8,021,554
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Irak2 |
interleukin 1 receptor associated kinase 2 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chrNW_004955561:1,585,842...1,650,268
Ensembl chrNW_004955561:1,585,827...1,653,197
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Kcnb1 |
potassium voltage-gated channel subfamily B member 1 |
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ISO |
ClinVar Annotator: match by term: Myoclonic absence seizure |
ClinVar |
PMID:25741868 PMID:26477325 PMID:28492532 PMID:28806457 PMID:29264397 PMID:31512327 PMID:31513310 PMID:31600826 PMID:32581362 More...
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NCBI chrNW_004955445:8,680,979...8,779,662
Ensembl chrNW_004955445:8,680,965...8,774,110
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Lmnb2 |
lamin B2 |
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ISO |
ClinVar Annotator: match by term: Generalized myoclonic seizures |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955495:4,826,653...4,851,984
Ensembl chrNW_004955495:4,828,638...4,851,928
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Pmp22 |
peripheral myelin protein 22 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17275665 |
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NCBI chrNW_004955467:2,422,181...2,456,925
Ensembl chrNW_004955467:2,423,659...2,457,307
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Pomc |
proopiomelanocortin |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:6088243 |
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NCBI chrNW_004955469:7,217,233...7,220,401
Ensembl chrNW_004955469:7,217,363...7,220,386
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Prickle2 |
prickle planar cell polarity protein 2 |
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ISO |
ClinVar Annotator: match by term: Myoclonus epilepsy | ClinVar Annotator: match by term: myoclonic epilepsy |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 |
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NCBI chrNW_004955517:1,501,322...1,806,996
Ensembl chrNW_004955517:1,501,706...1,802,169
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Prmt7 |
protein arginine methyltransferase 7 |
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ISO |
ClinVar Annotator: match by term: Generalized myoclonic seizures |
ClinVar |
PMID:25741868 PMID:33085104 |
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NCBI chrNW_004955484:8,299,427...8,352,465
Ensembl chrNW_004955484:8,299,427...8,340,287
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Rapgef2 |
Rap guanine nucleotide exchange factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29507423 |
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NCBI chrNW_004955471:12,670,837...12,838,910
Ensembl chrNW_004955471:12,670,764...12,815,430
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Samd12 |
sterile alpha motif domain containing 12 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29507423 |
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NCBI chrNW_004955417:24,137,340...24,541,572
Ensembl chrNW_004955417:24,145,264...24,541,599
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Scarb2 |
scavenger receptor class B member 2 |
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ISO |
ClinVar Annotator: match by term: Myoclonus epilepsy |
ClinVar |
PMID:18308289 PMID:25741868 PMID:26467025 PMID:26836416 PMID:28492532 PMID:29261713 PMID:29358611 More...
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NCBI chrNW_004955433:884,740...962,932
Ensembl chrNW_004955433:884,740...962,932
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Scn1a |
sodium voltage-gated channel alpha subunit 1 |
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ISO |
ClinVar Annotator: match by term: Myoclonic encephalopathy | ClinVar Annotator: match by term: myoclonic epilepsy |
ClinVar |
PMID:17347258 PMID:28492532 PMID:35571373 |
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NCBI chrNW_004955449:8,072,910...8,220,763
Ensembl chrNW_004955449:8,160,986...8,221,951
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Sec13 |
SEC13 homolog, nuclear pore and COPII coat complex component |
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ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chrNW_004955561:1,707,053...1,723,715
Ensembl chrNW_004955561:1,707,053...1,723,862
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Sema6b |
semaphorin 6B |
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ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955495:4,387,147...4,399,430
Ensembl chrNW_004955495:4,388,516...4,399,313
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Slc2a1 |
solute carrier family 2 member 1 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955537:2,408,042...2,438,788
Ensembl chrNW_004955537:2,408,042...2,439,511
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Slc6a1 |
solute carrier family 6 member 1 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar Annotator: match by term: Myoclonic-astatic epilepsy | ClinVar Annotator: match by term: Myoclonus epilepsy |
ClinVar |
PMID:9536098 PMID:14744863 PMID:15496410 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19344873 PMID:22495306 PMID:24859339 PMID:25363768 PMID:25741868 PMID:25865495 PMID:26467025 PMID:26716362 PMID:27541642 PMID:27824329 PMID:27959697 PMID:28135719 PMID:28191889 PMID:28213519 PMID:28492532 PMID:28708303 PMID:28856709 PMID:29315614 PMID:29358611 PMID:29933521 PMID:29961511 PMID:30132828 PMID:30525188 PMID:31031587 PMID:31176687 PMID:31273778 PMID:31302675 PMID:31332282 PMID:31401500 PMID:31780880 PMID:31785789 PMID:31981491 PMID:32005694 PMID:32581362 PMID:32660967 PMID:32913952 PMID:33004838 PMID:33961861 PMID:34006619 PMID:34028503 PMID:34489640 PMID:34653234 PMID:35701389 PMID:35761184 PMID:36674476 PMID:36895422 PMID:37700749 More...
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NCBI chrNW_004955429:13,930,899...13,946,010
Ensembl chrNW_004955429:13,930,905...13,947,389
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Slc6a11 |
solute carrier family 6 member 11 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chrNW_004955429:13,774,455...13,880,690
Ensembl chrNW_004955429:13,774,455...13,880,690
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Slc7a6os |
solute carrier family 7 member 6 opposite strand |
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ISO |
ClinVar Annotator: match by term: Generalized myoclonic seizures |
ClinVar |
PMID:25741868 PMID:33085104 |
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NCBI chrNW_004955484:8,340,059...8,348,776
Ensembl chrNW_004955484:8,340,076...8,347,472
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St3gal3 |
ST3 beta-galactoside alpha-2,3-sialyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Generalized myoclonic seizures |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955537:3,258,076...3,458,742
Ensembl chrNW_004955537:3,258,076...3,458,742
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Stxbp1 |
syntaxin binding protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18469812 PMID:29929108 |
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NCBI chrNW_004955419:963,829...1,000,759
Ensembl chrNW_004955419:963,829...1,000,759
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Tatdn2 |
TatD DNase domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chrNW_004955561:1,653,471...1,673,260
Ensembl chrNW_004955561:1,653,471...1,671,407
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Tnrc6a |
trinucleotide repeat containing adaptor 6A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29507423 |
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NCBI chrNW_004955493:3,057,035...3,243,668
Ensembl chrNW_004955493:3,090,088...3,243,731
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Vhl |
von Hippel-Lindau tumor suppressor |
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ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chrNW_004955561:1,573,525...1,578,295
Ensembl chrNW_004955561:1,573,525...1,580,511
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Epm2a |
EPM2A glucan phosphatase, laforin |
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ISO |
ClinVar Annotator: match by term: EPM2A-related condition | ClinVar Annotator: match by term: Myoclonic epilepsy of Lafora 1 |
OMIM ClinVar |
PMID:9771710 PMID:9931343 PMID:10932264 PMID:11175283 PMID:11739371 PMID:12019207 PMID:14532330 PMID:14706656 PMID:14722920 PMID:16134145 PMID:19403557 PMID:20738377 PMID:21623095 PMID:25246353 PMID:25544560 PMID:25741868 PMID:26467025 PMID:28492532 PMID:33773408 PMID:34568804 PMID:34755096 More...
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NCBI chrNW_004955436:14,925,452...14,982,357
Ensembl chrNW_004955436:14,926,123...14,983,180
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Nhlrc1 |
NHL repeat containing E3 ubiquitin protein ligase 1 |
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ISO |
ClinVar Annotator: match by term: Myoclonic epilepsy of Lafora 1 |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955483:8,078,796...8,079,612
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Nhlrc1 |
NHL repeat containing E3 ubiquitin protein ligase 1 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 2b | ClinVar Annotator: match by term: Myoclonic epilepsy of Lafora 2 |
OMIM ClinVar |
PMID:12958597 PMID:12960212 PMID:15781812 PMID:15930137 PMID:16134145 PMID:16190947 PMID:16311711 PMID:16529633 PMID:16950819 PMID:17389303 PMID:17952067 PMID:18029386 PMID:18256682 PMID:18263761 PMID:18311786 PMID:19267391 PMID:19744044 PMID:20301563 PMID:20738377 PMID:21505799 PMID:22047982 PMID:22815132 PMID:24452334 PMID:25270369 PMID:25401298 PMID:25667860 PMID:25683376 PMID:25741868 PMID:26467025 PMID:27194917 PMID:28492532 PMID:28556688 PMID:29431110 PMID:29588937 PMID:30701169 PMID:31227012 PMID:31758957 PMID:31858178 PMID:32587944 More...
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NCBI chrNW_004955483:8,078,796...8,079,612
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Ccnf |
cyclin F |
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ISO |
ClinVar Annotator: match by term: Familial infantile myoclonic epilepsy |
ClinVar |
PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 PMID:26467025 PMID:27259978 PMID:27281533 PMID:28301460 PMID:28492532 PMID:28951997 PMID:29358611 More...
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NCBI chrNW_004955442:14,864,935...14,890,802
Ensembl chrNW_004955442:14,865,954...14,890,709
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Kit |
KIT proto-oncogene, receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Familial infantile myoclonic epilepsy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955447:16,149,014...16,226,151
Ensembl chrNW_004955447:16,148,605...16,226,734
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G |
Opa1 |
OPA1 mitochondrial dynamin like GTPase |
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ISO |
ClinVar Annotator: match by term: Familial infantile myoclonic epilepsy |
ClinVar |
PMID:25326637 PMID:28492532 |
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NCBI chrNW_004955420:14,927,490...15,007,082
Ensembl chrNW_004955420:14,923,575...15,007,081
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Tbc1d24 |
TBC1 domain family member 24 |
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ISO |
ClinVar Annotator: match by term: Familial infantile myoclonic epilepsy |
OMIM ClinVar |
PMID:10574461 PMID:10741954 PMID:18414213 PMID:20727515 PMID:20797691 PMID:22277662 PMID:23526554 PMID:24033266 PMID:24291220 PMID:24848745 PMID:25741868 PMID:25769375 PMID:26207815 PMID:26371875 PMID:26467025 PMID:26668325 PMID:27259978 PMID:27281533 PMID:27784474 PMID:28292732 PMID:28301460 PMID:28428906 PMID:28492532 PMID:28726039 PMID:28951997 PMID:29358611 PMID:29671961 PMID:30180405 PMID:30311386 PMID:30335140 PMID:30776697 PMID:31112829 PMID:31216405 PMID:32004315 PMID:33619735 More...
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NCBI chrNW_004955442:14,816,213...14,823,132
Ensembl chrNW_004955442:14,812,566...14,823,224
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Arpc4 |
actin related protein 2/3 complex subunit 4 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chrNW_004955561:1,314,299...1,327,300
Ensembl chrNW_004955561:1,314,299...1,327,300
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Atp1a3 |
ATPase Na+/K+ transporting subunit alpha 3 |
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ISO |
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955555:869,508...892,510
Ensembl chrNW_004955555:869,325...893,542
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Atp2b2 |
ATPase plasma membrane Ca2+ transporting 2 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chrNW_004955561:1,727,935...1,851,907
Ensembl chrNW_004955561:1,727,935...1,851,907
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G |
Brk1 |
BRICK1 subunit of SCAR/WAVE actin nucleating complex |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chrNW_004955561:1,545,921...1,554,423
Ensembl chrNW_004955561:1,545,576...1,554,618
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Brpf1 |
bromodomain and PHD finger containing 1 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chrNW_004955561:1,260,237...1,275,953
Ensembl chrNW_004955561:1,259,700...1,276,015
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G |
Cacna1a |
calcium voltage-gated channel subunit alpha1 A |
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ISO |
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy |
ClinVar |
PMID:25735478 PMID:25741868 PMID:28492532 PMID:28566750 PMID:30142438 PMID:32910250 More...
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NCBI chrNW_004955415:32,182,536...32,457,511
Ensembl chrNW_004955415:32,183,442...32,400,595
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G |
Camk1 |
calcium/calmodulin dependent protein kinase I |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chrNW_004955561:1,282,970...1,292,710
Ensembl chrNW_004955561:1,282,970...1,294,972
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G |
Ccdc120 |
coiled-coil domain containing 120 |
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ISO |
ClinVar Annotator: match by term: Early onset epileptic encephalopathy |
ClinVar |
PMID:26173968 |
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NCBI chrNW_004955543:577,078...594,076
Ensembl chrNW_004955543:587,321...592,544
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G |
Chd2 |
chromodomain helicase DNA binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset |
ClinVar |
PMID:23708187 PMID:24207121 PMID:25741868 PMID:25783594 PMID:28492532 PMID:29358611 More...
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NCBI chrNW_004955416:21,085,570...21,210,321
Ensembl chrNW_004955416:21,085,570...21,210,321
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G |
Cidec |
cell death inducing DFFA like effector c |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chrNW_004955561:1,363,907...1,376,144
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G |
Cpne9 |
copine family member 9 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chrNW_004955561:1,238,916...1,258,000
Ensembl chrNW_004955561:1,238,862...1,258,045
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G |
Creld1 |
cysteine rich with EGF like domains 1 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chrNW_004955561:1,423,229...1,430,679
Ensembl chrNW_004955561:1,423,405...1,433,314
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Dnm1 |
dynamin 1 |
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ISO |
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RGD |
PMID:27363778 |
RGD:11557016 |
NCBI chrNW_004955570:752,335...781,770
Ensembl chrNW_004955570:752,335...781,770
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G |
Emc3 |
ER membrane protein complex subunit 3 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chrNW_004955561:1,442,953...1,459,988
Ensembl chrNW_004955561:1,442,953...1,459,988
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G |
Fancd2 |
FA complementation group D2 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chrNW_004955561:1,460,080...1,538,026
Ensembl chrNW_004955561:1,464,869...1,538,045
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G |
Fancd2os |
FANCD2 opposite strand |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chrNW_004955561:1,538,960...1,542,130
Ensembl chrNW_004955561:1,538,960...1,542,130
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G |
Fgf12 |
fibroblast growth factor 12 |
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ISO |
ClinVar Annotator: match by term: Early onset epileptic encephalopathy |
ClinVar |
PMID:25741868 PMID:27164707 PMID:27830185 PMID:27872899 PMID:28492532 PMID:28506426 PMID:28554332 PMID:29652076 PMID:29699863 More...
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NCBI chrNW_004955420:15,783,184...16,310,743
Ensembl chrNW_004955420:16,070,096...16,306,103
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G |
Fmr1 |
Fragile X messenger ribonucleoprotein 1 |
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ISO |
protein:decreased expression:hippocampus, cytosol (rat) |
RGD |
PMID:23831253 |
RGD:11667971 |
NCBI chrNW_004955498:566,741...594,837
Ensembl chrNW_004955498:566,688...595,360
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Ghrl |
ghrelin and obestatin prepropeptide |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chrNW_004955561:1,676,475...1,682,205
Ensembl chrNW_004955561:1,676,576...1,681,812
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G |
Il17rc |
interleukin 17 receptor C |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chrNW_004955561:1,410,100...1,423,041
Ensembl chrNW_004955561:1,410,941...1,423,023
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G |
Il17re |
interleukin 17 receptor E |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chrNW_004955561:1,397,286...1,409,999
Ensembl chrNW_004955561:1,397,287...1,409,999
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G |
Iqsec2 |
IQ motif and Sec7 domain ArfGEF 2 |
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ISO |
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955475:285,977...369,380
Ensembl chrNW_004955475:284,168...369,400
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G |
Irak2 |
interleukin 1 receptor associated kinase 2 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chrNW_004955561:1,585,842...1,650,268
Ensembl chrNW_004955561:1,585,827...1,653,197
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G |
Jagn1 |
jagunal homolog 1 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chrNW_004955561:1,388,592...1,392,107
Ensembl chrNW_004955561:1,388,592...1,392,107
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G |
Limk1 |
LIM domain kinase 1 |
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ISO |
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy |
ClinVar |
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NCBI chrNW_004955456:13,751,135...13,773,722
Ensembl chrNW_004955456:13,750,889...13,774,021
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G |
Mtmr14 |
myotubularin related protein 14 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chrNW_004955561:1,195,689...1,237,852
Ensembl chrNW_004955561:1,195,650...1,237,997
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G |
Ogg1 |
8-oxoguanine DNA glycosylase |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chrNW_004955561:1,277,362...1,282,949
Ensembl chrNW_004955561:1,277,365...1,282,793
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G |
Pik3ap1 |
phosphoinositide-3-kinase adaptor protein 1 |
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ISO |
ClinVar Annotator: match by term: Infantile spasm |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955507:2,805,782...2,918,664
Ensembl chrNW_004955507:2,801,970...2,918,670
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G |
Praf2 |
PRA1 domain family member 2 |
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ISO |
ClinVar Annotator: match by term: Early onset epileptic encephalopathy |
ClinVar |
PMID:26173968 |
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NCBI chrNW_004955543:594,662...597,695
Ensembl chrNW_004955543:594,606...598,264
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G |
Prrt3 |
proline rich transmembrane protein 3 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chrNW_004955561:1,430,767...1,437,981
Ensembl chrNW_004955561:1,431,375...1,435,670
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G |
Ralgapa1 |
Ral GTPase activating protein catalytic subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: Infantile spasm |
ClinVar |
PMID:32004447 |
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NCBI chrNW_004955409:25,336,503...25,582,881
Ensembl chrNW_004955409:25,337,699...25,583,657
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G |
Rbfox1 |
RNA binding fox-1 homolog 1 |
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ISO |
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955442:10,345,261...10,694,602
Ensembl chrNW_004955442:10,344,365...10,908,434
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G |
Rpusd3 |
RNA pseudouridine synthase D3 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chrNW_004955561:1,358,003...1,361,634
Ensembl chrNW_004955561:1,358,197...1,361,619
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G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
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ISO |
ClinVar Annotator: match by term: Infantile spasm |
ClinVar |
PMID:18930999 PMID:19563458 PMID:20452746 PMID:22848613 PMID:25741868 PMID:28492532 More...
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NCBI chrNW_004955449:8,072,910...8,220,763
Ensembl chrNW_004955449:8,160,986...8,221,951
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Scn1b |
sodium voltage-gated channel beta subunit 1 |
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ISO |
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy |
ClinVar |
PMID:19710327 PMID:25741868 PMID:28218389 PMID:28492532 PMID:37845033 |
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NCBI chrNW_004955468:4,375,517...4,383,383
Ensembl chrNW_004955468:4,375,157...4,383,502
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G |
Scn2a |
sodium voltage-gated channel alpha subunit 2 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955449:8,722,043...8,846,165
Ensembl chrNW_004955449:8,721,784...8,846,200
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Scn8a |
sodium voltage-gated channel alpha subunit 8 |
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ISO |
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955547:2,086,215...2,201,300
Ensembl chrNW_004955547:2,086,178...2,195,971
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Sec13 |
SEC13 homolog, nuclear pore and COPII coat complex component |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chrNW_004955561:1,707,053...1,723,715
Ensembl chrNW_004955561:1,707,053...1,723,862
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G |
Slc13a5 |
solute carrier family 13 member 5 |
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ISO |
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy |
ClinVar |
PMID:24033266 PMID:24995870 PMID:25741868 PMID:26384929 PMID:27261973 PMID:27600704 PMID:27913086 PMID:28492532 PMID:28673551 PMID:30525188 PMID:32551328 PMID:33040525 PMID:33063863 More...
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NCBI chrNW_004955467:12,181,555...12,217,280
Ensembl chrNW_004955467:12,182,766...12,216,842
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G |
Slc6a1 |
solute carrier family 6 member 1 |
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ISO |
ClinVar Annotator: match by term: Early onset epileptic encephalopathy | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder |
OMIM ClinVar |
PMID:9536098 PMID:14744863 PMID:15496410 PMID:16199547 PMID:17576681 PMID:19344873 PMID:22235131 PMID:22495306 PMID:24859339 PMID:25363768 PMID:25640679 PMID:25741868 PMID:25741909 PMID:25865495 PMID:26467025 PMID:26716362 PMID:27541642 PMID:27824329 PMID:27959697 PMID:28135719 PMID:28191889 PMID:28213519 PMID:28492532 PMID:28708303 PMID:28856709 PMID:29315614 PMID:29358611 PMID:29933521 PMID:29961511 PMID:30132828 PMID:30525188 PMID:31031587 PMID:31302675 PMID:31332282 PMID:31401500 PMID:31780880 PMID:31785789 PMID:31981491 PMID:32005694 PMID:32398021 PMID:32469098 PMID:32581362 PMID:32660967 PMID:33004838 PMID:33241211 PMID:33961861 PMID:34006619 PMID:34028503 PMID:34120799 PMID:34489640 PMID:34653234 PMID:35701389 PMID:35761184 PMID:36674476 PMID:36895422 PMID:37502687 PMID:37647852 PMID:37700749 More...
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NCBI chrNW_004955429:13,930,899...13,946,010
Ensembl chrNW_004955429:13,930,905...13,947,389
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G |
Slc6a11 |
solute carrier family 6 member 11 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chrNW_004955429:13,774,455...13,880,690
Ensembl chrNW_004955429:13,774,455...13,880,690
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G |
Srgap2 |
SLIT-ROBO Rho GTPase activating protein 2 |
|
ISO |
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955406:41,801,235...42,050,731
Ensembl chrNW_004955406:41,801,235...42,050,731
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G |
Stxbp1 |
syntaxin binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Early onset epileptic encephalopathy | ClinVar Annotator: match by term: Infantile spasm |
ClinVar |
PMID:18414213 PMID:20887364 PMID:22612257 PMID:24781210 PMID:25356970 PMID:25741868 PMID:25758715 PMID:25818041 PMID:26384463 PMID:26795593 PMID:26865513 PMID:26993267 PMID:27779742 PMID:28492532 PMID:29264391 PMID:30185235 PMID:30842647 PMID:32643187 More...
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NCBI chrNW_004955419:963,829...1,000,759
Ensembl chrNW_004955419:963,829...1,000,759
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G |
Tada3 |
transcriptional adaptor 3 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chrNW_004955561:1,304,222...1,314,092
Ensembl chrNW_004955561:1,304,232...1,348,121
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G |
Tatdn2 |
TatD DNase domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chrNW_004955561:1,653,471...1,673,260
Ensembl chrNW_004955561:1,653,471...1,671,407
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Tbc1d24 |
TBC1 domain family member 24 |
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ISO |
DNA:misense, nonsense mutations:cds:c.468C>A (C156X), c.686T>C(F229S)(human) |
RGD |
PMID:23526554 |
RGD:11537471 |
NCBI chrNW_004955442:14,816,213...14,823,132
Ensembl chrNW_004955442:14,812,566...14,823,224
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G |
Ttll3 |
tubulin tyrosine ligase like 3 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chrNW_004955561:1,330,378...1,353,217
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G |
Vhl |
von Hippel-Lindau tumor suppressor |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chrNW_004955561:1,573,525...1,578,295
Ensembl chrNW_004955561:1,573,525...1,580,511
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G |
Wdr45 |
WD repeat domain 45 |
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ISO |
ClinVar Annotator: match by term: Early onset epileptic encephalopathy |
ClinVar |
PMID:26173968 |
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NCBI chrNW_004955543:597,796...604,163
Ensembl chrNW_004955543:597,814...603,963
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G |
Kif5a |
kinesin family member 5A |
susceptibility |
ISO |
ClinVar Annotator: match by term: KIF5A-related intractable neonatal myoclonus | ClinVar Annotator: match by term: Myoclonus, intractable, neonatal |
OMIM ClinVar |
PMID:18500496 PMID:18853458 PMID:21623771 PMID:22552817 PMID:22714410 PMID:24123792 PMID:24215330 PMID:24731568 PMID:25008398 PMID:25741868 PMID:26374131 PMID:26543653 PMID:27414745 PMID:27463701 PMID:28362824 PMID:28492532 PMID:28678816 More...
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NCBI chrNW_004955458:5,264,274...5,310,962
Ensembl chrNW_004955458:5,287,111...5,310,962
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G |
Med11 |
mediator complex subunit 11 |
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ISO |
ClinVar Annotator: match by term: Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities |
OMIM ClinVar |
PMID:36001086 |
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NCBI chrNW_004955467:10,129,005...10,130,612
Ensembl chrNW_004955467:10,129,005...10,130,612
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G |
Pomc |
proopiomelanocortin |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:1318289 |
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NCBI chrNW_004955469:7,217,233...7,220,401
Ensembl chrNW_004955469:7,217,363...7,220,386
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G |
Scnn1b |
sodium channel epithelial 1 subunit beta |
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ISO |
ClinVar Annotator: match by term: Opsoclonus-myoclonus syndrome |
ClinVar |
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NCBI chrNW_004955493:1,937,507...1,956,248
Ensembl chrNW_004955493:1,904,220...1,956,303
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G |
Sdha |
succinate dehydrogenase complex flavoprotein subunit A |
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ISO |
ClinVar Annotator: match by term: Opsoclonus-myoclonus syndrome |
ClinVar |
PMID:22955521 PMID:22974104 PMID:24781757 PMID:25720320 PMID:25741868 PMID:28492532 PMID:29177515 PMID:29978154 PMID:30854332 PMID:30877234 PMID:31589614 PMID:31981491 PMID:32581362 PMID:33854214 More...
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NCBI chrNW_004955504:36,939...66,507
Ensembl chrNW_004955504:36,911...70,494
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G |
Nhlrc1 |
NHL repeat containing E3 ubiquitin protein ligase 1 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 2b |
ClinVar |
PMID:12958597 PMID:12960212 PMID:15781812 PMID:15930137 PMID:16311711 PMID:16529633 PMID:18029386 PMID:18256682 PMID:19744044 PMID:20738377 PMID:21505799 PMID:22815132 PMID:25270369 PMID:26467025 PMID:28492532 PMID:28556688 PMID:29431110 PMID:31227012 PMID:31758957 PMID:31858178 More...
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NCBI chrNW_004955483:8,078,796...8,079,612
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G |
Abcg1 |
ATP binding cassette subfamily G member 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:39,410,262...39,459,383
Ensembl chrNW_004955407:39,410,262...39,459,383
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G |
Adarb1 |
adenosine deaminase RNA specific B1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:41,886,286...41,962,846
Ensembl chrNW_004955407:41,886,286...41,962,897
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G |
Afg3l2 |
AFG3 like matrix AAA peptidase subunit 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25401298 |
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NCBI chrNW_004955402:1,037,414...1,069,165
Ensembl chrNW_004955402:1,037,402...1,069,165
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G |
Agpat3 |
1-acylglycerol-3-phosphate O-acyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:41,365,920...41,434,090
Ensembl chrNW_004955407:41,365,887...41,434,090
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G |
Aire |
autoimmune regulator |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:41,157,503...41,165,032
Ensembl chrNW_004955407:41,157,484...41,165,014
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G |
Art3 |
ADP-ribosyltransferase 3 (inactive) |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
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NCBI chrNW_004955433:743,631...850,612
Ensembl chrNW_004955433:810,703...853,589
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G |
Atn1 |
atrophin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10814707 |
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NCBI chrNW_004955413:4,511,251...4,524,037
Ensembl chrNW_004955413:4,516,532...4,522,831
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G |
C2cd2 |
C2 calcium dependent domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:39,627,435...39,665,156
Ensembl chrNW_004955407:39,618,252...39,663,885
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G |
Cbs |
cystathionine beta-synthase |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:38,924,355...38,939,790
Ensembl chrNW_004955407:38,924,321...38,939,790
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G |
Ccdc158 |
coiled-coil domain containing 158 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
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NCBI chrNW_004955433:1,040,193...1,120,585
Ensembl chrNW_004955433:1,042,049...1,116,349
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G |
Cdkl2 |
cyclin dependent kinase like 2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
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NCBI chrNW_004955474:1,514,566...1,550,120
Ensembl chrNW_004955474:1,513,391...1,550,385
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G |
Cers1 |
ceramide synthase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chrNW_004955524:2,788,672...2,798,068
Ensembl chrNW_004955524:2,788,653...2,796,370
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G |
Cfap410 |
cilia and flagella associated protein 410 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:41,120,820...41,128,089
Ensembl chrNW_004955407:41,121,048...41,126,996
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G |
Chd2 |
chromodomain helicase DNA binding protein 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chrNW_004955416:21,085,570...21,210,321
Ensembl chrNW_004955416:21,085,570...21,210,321
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G |
Cln3 |
CLN3 lysosomal/endosomal transmembrane protein, battenin |
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ISO |
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:27843123 PMID:28041643 PMID:28492532 PMID:28542676 More...
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NCBI chrNW_004955493:6,696,520...6,707,849
Ensembl chrNW_004955493:6,696,241...6,707,849
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G |
Cln5 |
CLN5 intracellular trafficking protein |
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ISO |
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive | ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive |
ClinVar |
PMID:18414213 PMID:24767253 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chrNW_004955404:30,229,632...30,235,677
Ensembl chrNW_004955404:30,229,632...30,235,679
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G |
Cln6 |
CLN6 transmembrane ER protein |
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ISO |
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955450:7,876,572...7,885,305
Ensembl chrNW_004955450:7,876,522...7,886,581
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G |
Col18a1 |
collagen type XVIII alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:42,091,211...42,131,343
Ensembl chrNW_004955407:42,091,211...42,131,343
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G |
Col6a1 |
collagen type VI alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:42,461,837...42,479,048
Ensembl chrNW_004955407:42,461,952...42,478,261
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G |
Col6a2 |
collagen type VI alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:42,575,677...42,600,967
Ensembl chrNW_004955407:42,575,170...42,600,495
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G |
Cryaa |
crystallin alpha A |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:38,880,088...38,892,946
Ensembl chrNW_004955407:38,880,086...38,925,642
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G |
Cstb |
cystatin B |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:9012407 PMID:9054946 PMID:9342192 PMID:9360639 PMID:9536098 PMID:15329070 PMID:15483648 PMID:16155205 PMID:17003839 PMID:17576681 PMID:17920138 PMID:18028412 PMID:18925453 PMID:20078424 PMID:21757863 PMID:22936898 PMID:23091450 PMID:23205931 PMID:25741868 PMID:26467025 PMID:26843564 PMID:28492532 PMID:29358611 PMID:29915382 PMID:31440721 PMID:32581362 PMID:35478072 PMID:37541188 PMID:38247861 More...
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NCBI chrNW_004955407:41,475,533...41,478,943
Ensembl chrNW_004955407:41,475,533...41,479,150
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G |
CUNH21orf58 |
chromosome unknown C21orf58 homolog |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:42,712,152...42,728,690
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G |
Cxcl10 |
C-X-C motif chemokine ligand 10 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
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NCBI chrNW_004955433:748,392...750,890
Ensembl chrNW_004955433:748,284...750,927
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G |
Cxcl11 |
C-X-C motif chemokine ligand 11 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
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NCBI chrNW_004955433:769,449...771,137
Ensembl chrNW_004955433:766,272...771,231
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G |
Cxcl9 |
C-X-C motif chemokine ligand 9 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
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NCBI chrNW_004955433:724,566...731,945
Ensembl chrNW_004955433:724,515...732,192
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G |
Dnajc5 |
DnaJ heat shock protein family (Hsp40) member C5 |
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ISO |
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: PME | ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chrNW_004955528:317,891...366,299
Ensembl chrNW_004955528:317,891...366,293
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G |
Dnmt3l |
DNA methyltransferase 3 like |
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ISO |
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:41,177,582...41,186,965
Ensembl chrNW_004955407:41,177,582...41,186,965
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G |
Epm2a |
EPM2A glucan phosphatase, laforin |
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ISO |
ClinVar Annotator: match by term: Myoclonic epilepsy, progressive, X-linked | ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar Annotator: match by term: Myoclonic epilepsy, progressive, X-linked | ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:9536098 PMID:9771710 PMID:9931343 PMID:10932264 PMID:11175283 PMID:11735300 PMID:11739371 PMID:12019207 PMID:14532330 PMID:14706656 PMID:14722920 PMID:16021330 PMID:16134145 PMID:16199547 PMID:16311711 PMID:17010495 PMID:17389303 PMID:17509003 PMID:17576681 PMID:18029386 PMID:18311786 PMID:18414213 PMID:19403557 PMID:20738377 PMID:21623095 PMID:21652633 PMID:25246353 PMID:25544560 PMID:25741868 PMID:26467025 PMID:26493215 PMID:27574708 PMID:27843123 PMID:28492532 PMID:28800070 PMID:28934672 PMID:30041081 PMID:30947044 PMID:31227012 PMID:31493945 PMID:32342326 PMID:33773408 PMID:34117373 PMID:34568804 PMID:34755096 More...
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NCBI chrNW_004955436:14,925,452...14,982,357
Ensembl chrNW_004955436:14,926,123...14,983,180
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G |
Fbxl3 |
F-box and leucine rich repeat protein 3 |
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ISO |
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:18414213 PMID:24767253 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955404:30,215,140...30,229,798
Ensembl chrNW_004955404:30,215,108...30,229,798
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G |
Ftcd |
formimidoyltransferase cyclodeaminase |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:42,608,249...42,617,167
Ensembl chrNW_004955407:42,607,872...42,617,166
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G |
G3bp2 |
G3BP stress granule assembly factor 2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
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NCBI chrNW_004955474:1,565,048...1,632,427
Ensembl chrNW_004955474:1,562,163...1,632,449
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G |
Gatd3 |
glutamine amidotransferase class 1 domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:41,247,749...41,255,369
Ensembl chrNW_004955407:41,247,687...41,254,884
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G |
Gosr2 |
golgi SNAP receptor complex member 2 |
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ISO |
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19057520 PMID:21549339 PMID:23449775 PMID:24458321 PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28982678 PMID:29855340 PMID:30363482 PMID:31440721 PMID:32032478 PMID:33639315 PMID:34167170 PMID:37895210 More...
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NCBI chrNW_004955478:10,868,912...10,889,405
Ensembl chrNW_004955478:10,868,912...10,889,405
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G |
Hsf2bp |
heat shock transcription factor 2 binding protein |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:38,577,463...38,671,929
Ensembl chrNW_004955407:38,577,789...38,671,929
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G |
Icoslg |
inducible T cell costimulator ligand |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:41,190,875...41,197,521
Ensembl chrNW_004955407:41,189,974...41,198,254
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G |
Itgb2 |
integrin subunit beta 2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:41,779,849...41,805,637
Ensembl chrNW_004955407:41,777,777...41,800,201
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G |
Kcnc1 |
potassium voltage-gated channel subfamily C member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25401298 |
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NCBI chrNW_004955414:32,538,968...32,580,370
Ensembl chrNW_004955414:32,538,938...32,580,370
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G |
Kctd7 |
potassium channel tetramerization domain containing 7 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
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NCBI chrNW_004955456:8,627,763...8,637,882
Ensembl chrNW_004955456:8,627,763...8,636,206
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G |
Lmnb2 |
lamin B2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chrNW_004955495:4,826,653...4,851,984
Ensembl chrNW_004955495:4,828,638...4,851,928
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G |
Lrrc3 |
leucine rich repeat containing 3 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:41,053,671...41,056,103
Ensembl chrNW_004955407:41,052,184...41,092,196
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G |
Lss |
lanosterol synthase |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:42,633,658...42,653,399
Ensembl chrNW_004955407:42,633,658...42,653,399
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G |
Mcm3ap |
minichromosome maintenance complex component 3 associated protein |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:42,657,422...42,706,339
Ensembl chrNW_004955407:42,657,588...42,705,315
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G |
Mfsd8 |
major facilitator superfamily domain containing 8 |
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ISO |
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955428:13,519,285...13,548,007
Ensembl chrNW_004955428:13,519,277...13,544,695
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G |
Naaa |
N-acylethanolamine acid amidase |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
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NCBI chrNW_004955433:630,627...674,675
Ensembl chrNW_004955433:630,483...674,675
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G |
Ndufv3 |
NADH:ubiquinone oxidoreductase subunit V3 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:39,029,943...39,039,425
Ensembl chrNW_004955407:39,026,057...39,039,347
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Neu1 |
neuraminidase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25401298 |
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NCBI chrNW_004955437:378,708...383,076
Ensembl chrNW_004955437:378,708...383,085
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G |
Nhlrc1 |
NHL repeat containing E3 ubiquitin protein ligase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25401298 |
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NCBI chrNW_004955483:8,078,796...8,079,612
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G |
Nup54 |
nucleoporin 54 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
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NCBI chrNW_004955433:853,921...879,861
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Odaph |
odontogenesis associated phosphoprotein |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
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NCBI chrNW_004955474:1,502,798...1,509,307
Ensembl chrNW_004955474:1,502,791...1,509,294
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Optn |
optineurin |
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ISO |
protein:increased expression:neuron, nucleus |
RGD |
PMID:22318854 |
RGD:6480499 |
NCBI chrNW_004955462:1,098,118...1,150,291
Ensembl chrNW_004955462:1,107,510...1,151,269
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G |
Pcbp3 |
poly(rC) binding protein 3 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:42,395,149...42,447,312
Ensembl chrNW_004955407:42,377,972...42,446,722
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Pcnt |
pericentrin |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:42,735,078...42,835,851
Ensembl chrNW_004955407:42,735,188...42,835,465
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G |
Pde9a |
phosphodiesterase 9A |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:39,090,718...39,165,363
Ensembl chrNW_004955407:39,087,952...39,165,370
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Pfkl |
phosphofructokinase, liver type |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:41,131,022...41,145,392
Ensembl chrNW_004955407:41,131,022...41,145,394
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Pknox1 |
PBX/knotted 1 homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:38,949,060...38,982,984
Ensembl chrNW_004955407:38,948,200...38,982,984
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G |
Pofut2 |
protein O-fucosyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:41,972,833...41,984,095
Ensembl chrNW_004955407:41,972,717...41,984,095
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G |
Ppef2 |
protein phosphatase with EF-hand domain 2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
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NCBI chrNW_004955474:1,758,988...1,770,427
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G |
Ppt1 |
palmitoyl-protein thioesterase 1 |
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ISO |
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive |
ClinVar |
PMID:9425237 PMID:9664077 PMID:9733046 PMID:10649502 PMID:10679943 PMID:11440996 PMID:11506414 PMID:17261688 PMID:19793312 PMID:20301601 PMID:21228398 PMID:21990111 PMID:23539563 PMID:23772246 PMID:24082928 PMID:25205113 PMID:25525159 PMID:25574475 PMID:25741868 PMID:26467025 PMID:28492532 More...
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NCBI chrNW_004955452:17,518,345...17,549,112
Ensembl chrNW_004955452:17,529,115...17,549,664
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G |
Prdm15 |
PR/SET domain 15 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:39,680,757...39,714,917
Ensembl chrNW_004955407:39,680,770...39,712,104
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G |
Prdm8 |
PR/SET domain 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
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NCBI chrNW_004955433:4,443,339...4,463,687
Ensembl chrNW_004955433:4,459,669...4,462,928
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G |
Prickle1 |
prickle planar cell polarity protein 1 |
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ISO |
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: PME ClinVar Annotator: match by term: PME | ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:18414213 PMID:20301774 PMID:21901791 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 More...
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NCBI chrNW_004955500:1,897,899...1,990,791
Ensembl chrNW_004955500:1,897,912...1,990,875
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G |
Prickle2 |
prickle planar cell polarity protein 2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:21276947 PMID:23711981 PMID:25741868 PMID:26467025 PMID:26942291 PMID:26942292 PMID:28492532 PMID:29358611 More...
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NCBI chrNW_004955517:1,501,322...1,806,996
Ensembl chrNW_004955517:1,501,706...1,802,169
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G |
Prnp |
prion protein (Kanno blood group) |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25401298 |
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NCBI chrNW_004955415:15,442,313...15,454,644
Ensembl chrNW_004955415:15,442,313...15,454,644
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G |
Pttg1ip |
PTTG1 interacting protein |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:41,753,855...41,769,107
Ensembl chrNW_004955407:41,755,162...41,769,010
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G |
Pwp2 |
PWP2 small subunit processome component |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:41,256,603...41,269,648
Ensembl chrNW_004955407:41,256,855...41,269,582
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G |
Ripk4 |
receptor interacting serine/threonine kinase 4 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:39,728,645...39,748,752
Ensembl chrNW_004955407:39,728,634...39,748,791
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G |
Rrp1 |
ribosomal RNA processing 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:41,456,291...41,466,040
Ensembl chrNW_004955407:41,456,191...41,466,856
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G |
Rrp1b |
ribosomal RNA processing 1B |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:38,553,866...38,577,547
Ensembl chrNW_004955407:38,553,814...38,577,465
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G |
Rsph1 |
radial spoke head component 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:39,266,888...39,284,972
Ensembl chrNW_004955407:39,266,888...39,284,972
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G |
Sacs |
sacsin molecular chaperone |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25401298 |
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NCBI chrNW_004955497:3,701,515...3,752,627
Ensembl chrNW_004955497:3,706,882...3,754,663
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G |
Scarb2 |
scavenger receptor class B member 2 |
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ISO |
ClinVar Annotator: match by term: Familial progressive myoclonic epilepsy | ClinVar Annotator: match by term: Progressive myoclonic epilepsy | ClinVar Annotator: match by term: Progressive myoclonus epilepsy ClinVar Annotator: match by term: Familial progressive myoclonic epilepsy | ClinVar Annotator: match by term: PME | ClinVar Annotator: match by term: Progressive myoclonic epilepsy | ClinVar Annotator: match by term: Progressive myoclonus epilepsy ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:9536098 PMID:15364701 PMID:16199547 PMID:17576681 PMID:18308289 PMID:19597094 PMID:19847901 PMID:19933215 PMID:21670406 PMID:22032306 PMID:22767442 PMID:23515316 PMID:23659519 PMID:24339182 PMID:24485911 PMID:24620919 PMID:25088547 PMID:25741868 PMID:26467025 PMID:26836416 PMID:28222800 PMID:28492532 PMID:29261713 PMID:29358611 PMID:34791078 PMID:35478072 More...
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NCBI chrNW_004955433:884,740...962,932
Ensembl chrNW_004955433:884,740...962,932
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G |
Sdad1 |
SDA1 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
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NCBI chrNW_004955433:690,305...717,737
Ensembl chrNW_004955433:689,577...717,737
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G |
Serpini1 |
serpin family I member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25401298 |
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NCBI chrNW_004955448:16,947,375...16,982,114
Ensembl chrNW_004955448:16,947,403...16,984,130
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G |
Shroom3 |
shroom family member 3 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
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NCBI chrNW_004955433:1,135,589...1,423,449
Ensembl chrNW_004955433:1,358,444...1,422,498
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G |
Sik1 |
salt inducible kinase 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:38,739,062...38,749,293
Ensembl chrNW_004955407:38,739,062...38,749,758
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G |
Slc19a1 |
solute carrier family 19 member 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:42,132,216...42,154,252
Ensembl chrNW_004955407:42,132,165...42,141,992
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G |
Slc37a1 |
solute carrier family 37 member 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:39,203,934...39,268,273
Ensembl chrNW_004955407:39,203,942...39,268,273
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G |
Slx9 |
SLX9 ribosome biogenesis factor |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:41,812,808...41,834,661
Ensembl chrNW_004955407:41,812,825...41,833,020
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G |
Spatc1l |
spermatogenesis and centriole associated 1 like |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:42,621,167...42,629,350
Ensembl chrNW_004955407:42,620,679...42,629,350
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G |
Stbd1 |
starch binding domain 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
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NCBI chrNW_004955433:1,036,265...1,038,652
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G |
Sumo3 |
small ubiquitin like modifier 3 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:41,725,992...41,732,692
Ensembl chrNW_004955407:41,727,181...41,732,692
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G |
Tbc1d24 |
TBC1 domain family member 24 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25401298 |
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NCBI chrNW_004955442:14,816,213...14,823,132
Ensembl chrNW_004955442:14,812,566...14,823,224
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G |
Tff1 |
trefoil factor 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:39,363,693...39,365,724
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G |
Tff2 |
trefoil factor 2 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:39,379,669...39,382,367
Ensembl chrNW_004955407:39,379,526...39,382,420
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G |
Tff3 |
trefoil factor 3 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:39,398,534...39,401,085
Ensembl chrNW_004955407:39,398,074...39,401,248
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G |
Tmprss3 |
transmembrane serine protease 3 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:39,332,517...39,351,699
Ensembl chrNW_004955407:39,332,052...39,354,488
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G |
Tpp1 |
tripeptidyl peptidase 1 |
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ISO |
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chrNW_004955414:22,324,847...22,330,912
Ensembl chrNW_004955414:22,324,856...22,330,912
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G |
Trappc10 |
trafficking protein particle complex subunit 10 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:41,271,526...41,347,850
Ensembl chrNW_004955407:41,271,526...41,347,850
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G |
Trpm2 |
transient receptor potential cation channel subfamily M member 2 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:41,062,217...41,110,500
Ensembl chrNW_004955407:41,057,941...41,110,668
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G |
Tsc1 |
TSC complex subunit 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17484760 |
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NCBI chrNW_004955513:2,197,037...2,244,992
Ensembl chrNW_004955513:2,197,037...2,244,992
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G |
Tspear |
thrombospondin type laminin G domain and EAR repeats |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:41,513,538...41,566,931
Ensembl chrNW_004955407:41,513,829...41,656,564
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G |
U2af1 |
U2 small nuclear RNA auxiliary factor 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:38,895,741...38,909,820
Ensembl chrNW_004955407:38,895,711...38,909,820
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G |
Ubash3a |
ubiquitin associated and SH3 domain containing A |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:39,290,025...39,325,810
Ensembl chrNW_004955407:39,290,827...39,326,004
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G |
Ube2g2 |
ubiquitin conjugating enzyme E2 G2 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:41,683,771...41,724,014
Ensembl chrNW_004955407:41,683,720...41,724,014
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G |
Umodl1 |
uromodulin like 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:39,508,526...39,555,604
Ensembl chrNW_004955407:39,508,471...39,548,147
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G |
Uso1 |
USO1 vesicle transport factor |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
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NCBI chrNW_004955474:1,647,670...1,704,869
Ensembl chrNW_004955474:1,647,361...1,705,548
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G |
Wdr4 |
WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:39,044,328...39,066,277
Ensembl chrNW_004955407:39,044,328...39,066,277
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G |
Wnt9b |
Wnt family member 9B |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:21549339 PMID:28492532 |
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NCBI chrNW_004955478:10,816,405...10,841,416
Ensembl chrNW_004955478:10,816,405...10,841,416
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G |
Ybey |
ybeY metalloendoribonuclease |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chrNW_004955407:42,706,407...42,710,962
Ensembl chrNW_004955407:42,706,439...42,710,962
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G |
Zbtb21 |
zinc finger and BTB domain containing 21 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004955407:39,583,998...39,599,381
Ensembl chrNW_004955407:39,584,146...39,599,381
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G |
Antxr2 |
ANTXR cell adhesion molecule 2 |
|
ISO |
ClinVar Annotator: match by term: Early-onset Lafora body disease |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955433:4,212,729...4,345,611
Ensembl chrNW_004955433:4,212,729...4,345,066
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G |
Prdm8 |
PR/SET domain 8 |
|
ISO |
ClinVar Annotator: match by term: Early-onset Lafora body disease | ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 10 |
OMIM ClinVar |
PMID:22961547 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955433:4,443,339...4,463,687
Ensembl chrNW_004955433:4,459,669...4,462,928
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G |
Sema6b |
semaphorin 6B |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 11 | ClinVar Annotator: match by term: SEMA6B-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:32169168 PMID:35604360 |
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NCBI chrNW_004955495:4,387,147...4,399,430
Ensembl chrNW_004955495:4,388,516...4,399,313
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G |
Prmt7 |
protein arginine methyltransferase 7 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 12 |
ClinVar |
PMID:25741868 PMID:33085104 |
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NCBI chrNW_004955484:8,299,427...8,352,465
Ensembl chrNW_004955484:8,299,427...8,340,287
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G |
Slc7a6os |
solute carrier family 7 member 6 opposite strand |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 12 |
OMIM ClinVar |
PMID:25741868 PMID:33085104 |
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NCBI chrNW_004955484:8,340,059...8,348,776
Ensembl chrNW_004955484:8,340,076...8,347,472
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G |
Cstb |
cystatin B |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004955407:41,475,533...41,478,943
Ensembl chrNW_004955407:41,475,533...41,479,150
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G |
Prickle1 |
prickle planar cell polarity protein 1 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 1B | ClinVar Annotator: match by term: Progressive myoclonus epilepsy with ataxia |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:18414213 PMID:18976727 PMID:20301774 PMID:21276947 PMID:21901791 PMID:24689077 PMID:25741868 PMID:26378787 PMID:26467025 PMID:28106320 PMID:28492532 PMID:29358611 PMID:29790814 PMID:30564977 PMID:31035234 PMID:31875159 PMID:32214227 PMID:35040250 More...
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NCBI chrNW_004955500:1,897,899...1,990,791
Ensembl chrNW_004955500:1,897,912...1,990,875
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Tbc1d24 |
TBC1 domain family member 24 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 1B |
ClinVar |
PMID:25401298 PMID:25741868 PMID:27281533 PMID:28492532 PMID:30335140 |
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NCBI chrNW_004955442:14,816,213...14,823,132
Ensembl chrNW_004955442:14,812,566...14,823,224
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G |
Cln3 |
CLN3 lysosomal/endosomal transmembrane protein, battenin |
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ISO |
ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 14 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955493:6,696,520...6,707,849
Ensembl chrNW_004955493:6,696,241...6,707,849
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Kctd7 |
potassium channel tetramerization domain containing 7 |
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ISO |
ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 14 | ClinVar Annotator: match by term: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 14 | ClinVar Annotator: match by term: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS | ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 3, with intracellular inclusions |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17455289 PMID:17576681 PMID:18414213 PMID:22606975 PMID:22638565 PMID:22693283 PMID:22748208 PMID:25060828 PMID:25326635 PMID:25533962 PMID:25640679 PMID:25741868 PMID:25976102 PMID:26467025 PMID:26795593 PMID:27742667 PMID:28492532 PMID:29056246 PMID:29302074 PMID:29619247 PMID:29655203 PMID:30295347 PMID:30500434 PMID:30776697 PMID:30825425 PMID:30919572 PMID:31130284 PMID:31216804 PMID:31965297 PMID:32412666 PMID:32581362 PMID:34469883 PMID:34866617 PMID:35921411 PMID:36034301 PMID:37541188 PMID:38231304 More...
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NCBI chrNW_004955456:8,627,763...8,637,882
Ensembl chrNW_004955456:8,627,763...8,636,206
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G |
Kcnh8 |
potassium voltage-gated channel subfamily H member 8 |
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ISO |
ClinVar Annotator: match by term: Action myoclonus-renal failure syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955430:11,298,850...11,654,835
Ensembl chrNW_004955430:11,298,850...11,654,835
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G |
Rtel1 |
regulator of telomere elongation helicase 1 |
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ISO |
ClinVar Annotator: match by term: Action myoclonus-renal failure syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955528:531,680...578,003
Ensembl chrNW_004955528:532,385...572,398
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G |
Scarb2 |
scavenger receptor class B member 2 |
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ISO |
ClinVar Annotator: match by term: Action myoclonus-renal failure syndrome | ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 4, with or without renal failure | ClinVar Annotator: match by term: SCARB2-related condition |
OMIM ClinVar |
PMID:9536098 PMID:15364701 PMID:16199547 PMID:17576681 PMID:18308289 PMID:18424452 PMID:19454373 PMID:19597094 PMID:19847901 PMID:19933215 PMID:21670406 PMID:21796727 PMID:22032306 PMID:22767442 PMID:23225201 PMID:23515316 PMID:23659519 PMID:24339182 PMID:24485911 PMID:24620919 PMID:25088547 PMID:25741868 PMID:26467025 PMID:26836416 PMID:28222800 PMID:28492532 PMID:29261713 PMID:29358611 PMID:34791078 PMID:35478072 More...
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NCBI chrNW_004955433:884,740...962,932
Ensembl chrNW_004955433:884,740...962,932
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G |
Fanci |
FA complementation group I |
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ISO |
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 |
ClinVar |
PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:22237560 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25488682 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28130605 PMID:28492532 PMID:30451971 More...
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NCBI chrNW_004955416:15,788,812...15,857,933
Ensembl chrNW_004955416:15,788,922...15,853,480
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G |
Msh6 |
mutS homolog 6 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 |
ClinVar |
PMID:23621914 PMID:24033266 PMID:25142776 PMID:25326637 PMID:25741868 PMID:25980754 PMID:26689913 PMID:28492532 PMID:29684080 PMID:29945567 PMID:30267214 PMID:31159747 PMID:31332305 PMID:31391288 PMID:31422574 PMID:31921681 PMID:33471991 PMID:34445333 PMID:35980532 More...
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NCBI chrNW_004955441:14,451,207...14,471,316
Ensembl chrNW_004955441:14,451,307...14,471,227
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Polg |
DNA polymerase gamma, catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 5 |
ClinVar |
PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 PMID:11555352 PMID:11571332 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:12975295 PMID:14557557 PMID:14635118 PMID:14694057 PMID:14745080 PMID:15122711 PMID:15181170 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15689359 PMID:15824347 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16080118 PMID:16130100 PMID:16177225 PMID:16199547 PMID:16368709 PMID:16401742 PMID:16545482 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16639411 PMID:16896309 PMID:16919951 PMID:16940310 PMID:17088268 PMID:17418573 PMID:17426723 PMID:17436221 PMID:17438011 PMID:17452231 PMID:17502560 PMID:17538929 PMID:17846414 PMID:17894835 PMID:17950645 PMID:17980715 PMID:18156159 PMID:18195149 PMID:18195151 PMID:18294203 PMID:18321754 PMID:18414213 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18716558 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19125351 PMID:19189930 PMID:19195941 PMID:19251978 PMID:19307547 PMID:19344718 PMID:19364868 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19629138 PMID:19752458 PMID:19762913 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19862739 PMID:19887119 PMID:20138553 PMID:20142534 PMID:20153822 PMID:20176107 PMID:20185557 PMID:20220442 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20434700 PMID:20438629 PMID:20513108 PMID:20513922 PMID:20576279 PMID:20601675 PMID:20691285 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20837862 PMID:20843780 PMID:20883824 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21236670 PMID:21259344 PMID:21276947 PMID:21282586 PMID:21305355 PMID:21357833 PMID:21455106 PMID:21484424 PMID:21515089 PMID:21550804 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21953457 PMID:21956653 PMID:21993618 PMID:22000311 PMID:22006280 PMID:22084276 PMID:22166854 PMID:22189570 PMID:22237560 PMID:22342071 PMID:22494076 PMID:22537151 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22863191 PMID:22931735 PMID:22987704 PMID:22995991 PMID:23084792 PMID:23208208 PMID:23212759 PMID:23248042 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID:23419467 PMID:23426270 PMID:23430834 PMID:23446635 PMID:23446645 PMID:23448099 PMID:23524600 PMID:23665194 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23811324 PMID:23921535 PMID:24033266 PMID:24091540 PMID:24122062 PMID:24259288 PMID:24265579 PMID:24272679 PMID:24288107 PMID:24331360 PMID:24508722 PMID:24642831 PMID:24725338 PMID:25025039 PMID:25118206 PMID:25193669 PMID:25286830 PMID:25356970 PMID:25462018 PMID:25488682 PMID:25497598 PMID:25585994 PMID:25660390 PMID:25713120 PMID:25741868 PMID:25742477 PMID:25850945 PMID:25852747 PMID:25940035 PMID:26077851 PMID:26095671 PMID:26104464 PMID:26169155 PMID:26224072 PMID:26337858 PMID:26357557 PMID:26467025 PMID:26468652 PMID:26557169 PMID:26607151 PMID:26735972 PMID:26742794 PMID:26755490 PMID:26942291 PMID:26942292 PMID:27016405 PMID:27111573 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27290639 PMID:27422324 PMID:27450679 PMID:27538604 PMID:27538665 PMID:27822509 PMID:27838477 PMID:27917773 PMID:27987238 PMID:28128857 PMID:28130605 PMID:28154168 PMID:28206745 PMID:28337550 PMID:28444220 PMID:28471437 PMID:28480171 PMID:28492532 PMID:28634151 PMID:28756246 PMID:28771251 PMID:28776642 PMID:28812649 PMID:28837072 PMID:28865037 PMID:28958595 PMID:29029963 PMID:29214156 PMID:29272804 PMID:29302508 PMID:29341116 PMID:29358615 PMID:29423831 PMID:29431110 PMID:29474836 PMID:29482223 PMID:29574624 PMID:29588995 PMID:29655203 PMID:29712893 PMID:29913018 PMID:29920680 PMID:29992832 PMID:29997391 PMID:30021052 PMID:30167885 PMID:30255931 PMID:30290626 PMID:30306720 PMID:30369941 PMID:30373890 PMID:30404819 PMID:30423451 PMID:30451971 PMID:30487145 PMID:30637288 PMID:30818899 PMID:30843307 PMID:30860128 PMID:30936349 PMID:30941926 PMID:30951992 PMID:31085725 PMID:31164858 PMID:31475037 PMID:31521625 PMID:31571979 PMID:31589614 PMID:31645654 PMID:31655921 PMID:31658717 PMID:31665838 PMID:31669236 PMID:31980526 PMID:31996268 PMID:32019516 PMID:32042919 PMID:32165824 PMID:32234506 PMID:32305867 PMID:32348839 PMID:32391929 PMID:32445240 PMID:32502631 PMID:32567010 PMID:32613234 PMID:32964447 PMID:33233646 PMID:33396418 PMID:33434755 PMID:33469851 PMID:33473333 PMID:33486010 PMID:33513296 PMID:33579567 PMID:33600046 PMID:33683010 PMID:33726816 PMID:33791913 PMID:33956154 PMID:34008892 PMID:34052969 PMID:34062649 PMID:34194468 PMID:34288125 PMID:34426522 PMID:34670123 PMID:34690748 PMID:34782754 PMID:34927673 PMID:35114397 PMID:35186329 PMID:35307828 PMID:35350396 PMID:35598585 PMID:35699875 PMID:35799515 PMID:35861376 PMID:36325100 PMID:36332611 PMID:36703223 PMID:36987741 PMID:37091313 PMID:37184518 PMID:37189790 PMID:38772265 PMID:38845467 More...
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NCBI chrNW_004955416:15,773,005...15,788,736
Ensembl chrNW_004955416:15,773,473...15,788,651
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G |
Prickle2 |
prickle planar cell polarity protein 2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 5 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:21276947 PMID:23711981 PMID:24088041 PMID:25326635 PMID:25741868 PMID:26467025 PMID:26633545 PMID:26942291 PMID:26942292 PMID:28492532 PMID:29358611 More...
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NCBI chrNW_004955517:1,501,322...1,806,996
Ensembl chrNW_004955517:1,501,706...1,802,169
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G |
Twnk |
twinkle mtDNA helicase |
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ISO |
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 |
ClinVar |
PMID:21689831 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955485:9,193,838...9,198,697
Ensembl chrNW_004955485:9,191,919...9,198,697
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G |
Gosr2 |
golgi SNAP receptor complex member 2 |
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ISO |
ClinVar Annotator: match by term: GOSR2-related condition | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 6 |
OMIM ClinVar |
PMID:16199547 PMID:19057520 PMID:21549339 PMID:23449775 PMID:24458321 PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28982678 PMID:29855340 PMID:31440721 PMID:32032478 PMID:33639315 PMID:34167170 PMID:37895210 More...
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NCBI chrNW_004955478:10,868,912...10,889,405
Ensembl chrNW_004955478:10,868,912...10,889,405
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G |
Ndufs2 |
NADH:ubiquinone oxidoreductase core subunit S2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 6 |
ClinVar |
PMID:22200994 PMID:25326637 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955468:12,961,873...12,971,278
Ensembl chrNW_004955468:12,961,915...12,971,095
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G |
Csrp3 |
cysteine and glycine rich protein 3 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955476:155,913...176,122
Ensembl chrNW_004955476:154,917...176,616
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G |
Gtf2h1 |
general transcription factor IIH subunit 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955414:33,028,701...33,063,233
Ensembl chrNW_004955414:33,028,701...33,063,233
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G |
Hps5 |
HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955414:32,992,669...33,028,620
Ensembl chrNW_004955414:32,992,669...33,028,442
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G |
Igsf22 |
immunoglobulin superfamily member 22 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955414:33,364,637...33,378,363
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G |
Kcnc1 |
potassium voltage-gated channel subfamily C member 1 |
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ISO |
ClinVar Annotator: match by term: KCNC1-related condition | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25363768 PMID:25401298 PMID:25741868 PMID:26467025 PMID:27629860 PMID:28145425 PMID:28380698 PMID:28488083 PMID:28492532 PMID:28714951 PMID:29428275 PMID:29894724 PMID:31216804 PMID:31353855 PMID:31353862 PMID:31440721 PMID:32972906 PMID:33163565 PMID:33349918 PMID:33725338 PMID:33735526 PMID:34232791 PMID:35299674 PMID:36028527 PMID:36034301 More...
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NCBI chrNW_004955414:32,538,968...32,580,370
Ensembl chrNW_004955414:32,538,938...32,580,370
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G |
Ldha |
lactate dehydrogenase A |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955414:33,087,745...33,100,846
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G |
LOC102020557 |
L-lactate dehydrogenase C chain |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955414:33,109,535...33,138,756
Ensembl chrNW_004955414:33,110,120...33,138,756
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G |
Myod1 |
myogenic differentiation 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955414:32,523,959...32,526,575
Ensembl chrNW_004955414:32,523,924...32,526,674
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G |
Otog |
otogelin |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955414:32,353,896...32,435,097
Ensembl chrNW_004955414:32,357,054...32,433,849
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G |
Ptpn5 |
protein tyrosine phosphatase non-receptor type 5 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955414:33,381,783...33,436,974
Ensembl chrNW_004955414:33,377,322...33,437,118
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G |
Saal1 |
serum amyloid A like 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955414:32,853,291...32,868,061
Ensembl chrNW_004955414:32,852,959...32,868,068
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G |
Sergef |
secretion regulating guanine nucleotide exchange factor |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955414:32,579,419...32,796,714
Ensembl chrNW_004955414:32,584,839...32,796,725
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G |
Spty2d1 |
SPT2 chromatin protein domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955414:33,255,048...33,272,861
Ensembl chrNW_004955414:33,256,850...33,272,556
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G |
Tmem86a |
transmembrane protein 86A |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955414:33,357,432...33,361,478
Ensembl chrNW_004955414:33,357,383...33,361,478
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G |
Tph1 |
tryptophan hydroxylase 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955414:32,803,417...32,828,682
Ensembl chrNW_004955414:32,800,477...32,828,501
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G |
Tsg101 |
tumor susceptibility 101 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955414:33,154,812...33,193,769
Ensembl chrNW_004955414:33,154,812...33,193,769
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G |
Uevld |
UEV and lactate/malate dehyrogenase domains |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955414:33,197,202...33,238,473
Ensembl chrNW_004955414:33,197,202...33,238,473
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G |
Ush1c |
USH1 protein network component harmonin |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955414:32,303,045...32,351,401
Ensembl chrNW_004955414:32,298,759...32,351,505
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G |
Zdhhc13 |
zinc finger DHHC-type palmitoyltransferase 13 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955476:105,347...152,415
Ensembl chrNW_004955476:105,347...154,615
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G |
Armc6 |
armadillo repeat containing 6 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955524:2,695,720...2,709,163
Ensembl chrNW_004955524:2,692,758...2,709,262
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G |
Borcs8 |
BLOC-1 related complex subunit 8 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955524:2,641,907...2,646,275
Ensembl chrNW_004955524:2,641,907...2,646,275
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G |
Cers1 |
ceramide synthase 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19243074 PMID:24033266 PMID:24782409 PMID:25741868 PMID:28492532 PMID:30800706 More...
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NCBI chrNW_004955524:2,788,672...2,798,068
Ensembl chrNW_004955524:2,788,653...2,796,370
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G |
Cope |
COPI coat complex subunit epsilon |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955524:2,767,996...2,779,671
Ensembl chrNW_004955524:2,767,997...2,779,671
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G |
Ddx49 |
DEAD-box helicase 49 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955524:2,760,692...2,767,709
Ensembl chrNW_004955524:2,760,860...2,767,665
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G |
Homer3 |
homer scaffold protein 3 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955524:2,754,970...2,760,198
Ensembl chrNW_004955524:2,755,367...2,760,198
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Mef2b |
myocyte enhancer factor 2B |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955524:2,649,413...2,664,173
Ensembl chrNW_004955524:2,661,278...2,664,084
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G |
Nr2c2ap |
nuclear receptor 2C2 associated protein |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955524:2,634,302...2,635,982
Ensembl chrNW_004955524:2,618,957...2,635,982
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G |
Rfxank |
regulatory factor X associated ankyrin containing protein |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955524:2,635,358...2,642,206
Ensembl chrNW_004955524:2,635,358...2,641,765
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G |
Slc25a42 |
solute carrier family 25 member 42 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955524:2,674,508...2,683,304
Ensembl chrNW_004955524:2,675,747...2,683,282
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G |
Sugp2 |
SURP and G-patch domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955524:2,710,656...2,731,849
Ensembl chrNW_004955524:2,710,656...2,732,203
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Tmem161a |
transmembrane protein 161A |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955524:2,667,089...2,674,550
Ensembl chrNW_004955524:2,666,885...2,674,215
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G |
Upf1 |
UPF1 RNA helicase and ATPase |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955524:2,798,336...2,814,063
Ensembl chrNW_004955524:2,798,336...2,913,176
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G |
Abhd17a |
abhydrolase domain containing 17A, depalmitoylase |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955495:6,159,314...6,167,429
Ensembl chrNW_004955495:6,159,314...6,168,123
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G |
Adamtsl5 |
ADAMTS like 5 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955764:4,813...12,653
Ensembl chrNW_004955764:5,177...12,653
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G |
Amh |
anti-Mullerian hormone |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955495:5,893,375...5,896,152
Ensembl chrNW_004955495:5,893,446...5,895,912
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G |
Ap3d1 |
adaptor related protein complex 3 subunit delta 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955495:5,972,177...6,012,525
Ensembl chrNW_004955495:5,972,433...6,012,433
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G |
Apc2 |
APC regulator of WNT signaling pathway 2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955495:6,466,434...6,489,612
Ensembl chrNW_004955495:6,467,357...6,489,633
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G |
Atp8b3 |
ATPase phospholipid transporting 8B3 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955495:6,222,764...6,242,104
Ensembl chrNW_004955495:6,222,602...6,242,569
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G |
Btbd2 |
BTB domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955495:6,072,112...6,085,180
Ensembl chrNW_004955495:6,072,112...6,084,298
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G |
Csnk1g2 |
casein kinase 1 gamma 2 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955495:6,087,159...6,103,413
Ensembl chrNW_004955495:6,087,159...6,103,412
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G |
CUNH19orf25 |
chromosome unknown C19orf25 homolog |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955495:6,461,082...6,464,720
Ensembl chrNW_004955495:6,461,082...6,464,720
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G |
Diras1 |
DIRAS family GTPase 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955495:5,002,803...5,005,203
Ensembl chrNW_004955495:5,004,548...5,005,144
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G |
Dot1l |
DOT1 like histone lysine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955495:5,907,486...5,958,241
Ensembl chrNW_004955495:5,909,880...5,959,027
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G |
Gadd45b |
growth arrest and DNA damage inducible beta |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955495:4,864,932...4,866,728
Ensembl chrNW_004955495:4,864,868...4,867,658
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G |
Gna11 |
G protein subunit alpha 11 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955495:5,286,891...5,302,631
Ensembl chrNW_004955495:5,285,380...5,302,631
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G |
Gng7 |
G protein subunit gamma 7 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955495:4,889,198...4,995,288
Ensembl chrNW_004955495:4,889,198...4,893,353
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G |
Izumo4 |
IZUMO family member 4 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955495:6,014,852...6,018,342
Ensembl chrNW_004955495:6,015,038...6,018,162
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G |
Klf16 |
KLF transcription factor 16 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955495:6,178,565...6,189,469
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G |
Lingo3 |
leucine rich repeat and Ig domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955495:5,850,956...5,862,249
Ensembl chrNW_004955495:5,860,126...5,861,939
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G |
Lmnb2 |
lamin B2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar OMIM |
PMID:9536098 PMID:16826530 PMID:17576681 PMID:22768673 PMID:22995991 PMID:25741868 PMID:25954030 PMID:26467025 PMID:27535533 PMID:28166811 PMID:28492532 PMID:32041611 More...
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NCBI chrNW_004955495:4,826,653...4,851,984
Ensembl chrNW_004955495:4,828,638...4,851,928
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G |
LOC102028311 |
cytochrome b-c1 complex subunit 10 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955495:6,368,827...6,372,938
Ensembl chrNW_004955495:6,368,827...6,372,938
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G |
Lsm7 |
LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955495:5,829,976...5,836,785
Ensembl chrNW_004955495:5,829,247...5,836,900
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G |
Mbd3 |
methyl-CpG binding domain protein 3 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955495:6,385,449...6,388,911
Ensembl chrNW_004955495:6,336,367...6,389,056
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G |
Mex3d |
mex-3 RNA binding family member D |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955495:6,394,784...6,401,963
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G |
Mknk2 |
MAPK interacting serine/threonine kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955495:6,048,346...6,061,579
Ensembl chrNW_004955495:6,048,128...6,062,913
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G |
Mob3a |
MOB kinase activator 3A |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955495:6,018,368...6,033,399
Ensembl chrNW_004955495:6,018,368...6,035,489
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G |
Oaz1 |
ornithine decarboxylase antizyme 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955495:5,871,418...5,874,200
Ensembl chrNW_004955495:5,871,418...5,874,200
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G |
Onecut3 |
one cut homeobox 3 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955495:6,246,855...6,267,989
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G |
Pcsk4 |
proprotein convertase subtilisin/kexin type 4 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955495:6,424,426...6,460,252
Ensembl chrNW_004955495:6,453,991...6,459,744
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G |
Peak3 |
PEAK family member 3 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955495:5,866,204...5,869,808
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G |
Plekhj1 |
pleckstrin homology domain containing J1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955495:5,904,410...5,907,211
Ensembl chrNW_004955495:5,904,410...5,907,211
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G |
Plk5 |
polo like kinase 5 (inactive) |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955495:6,415,172...6,424,445
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G |
Reep6 |
receptor accessory protein 6 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955764:17,640...22,996
Ensembl chrNW_004955764:3,793...23,152
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G |
Rexo1 |
RNA exonuclease 1 homolog |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955495:6,194,380...6,219,907
Ensembl chrNW_004955495:6,194,521...6,220,031
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G |
Sf3a2 |
splicing factor 3a subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955495:5,896,648...5,904,287
Ensembl chrNW_004955495:5,896,648...5,904,056
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G |
Sgta |
small glutamine rich tetratricopeptide repeat co-chaperone alpha |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955495:5,025,038...5,051,810
Ensembl chrNW_004955495:5,031,229...5,052,389
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G |
Slc39a3 |
solute carrier family 39 member 3 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955899:808...9,721
Ensembl chrNW_004955899:590...9,721
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G |
Sppl2b |
signal peptide peptidase like 2B |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955495:5,816,979...5,829,938
Ensembl chrNW_004955495:5,818,337...5,829,889
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G |
Tcf3 |
transcription factor 3 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955495:6,337,311...6,365,193
Ensembl chrNW_004955495:6,337,870...6,367,487
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G |
Thop1 |
thimet oligopeptidase 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955495:5,055,389...5,070,710
Ensembl chrNW_004955495:5,054,986...5,071,279
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G |
Timm13 |
translocase of inner mitochondrial membrane 13 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955495:5,781,024...5,782,300
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G |
Tle2 |
TLE family member 2, transcriptional corepressor |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955495:5,347,496...5,366,743
Ensembl chrNW_004955495:5,347,496...5,368,385
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G |
Tle5 |
TLE family member 5, transcriptional modulator |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955495:5,328,299...5,336,195
Ensembl chrNW_004955495:5,327,595...5,336,715
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G |
Tle6 |
TLE family member 6, subcortical maternal complex member |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955495:5,367,237...5,369,601
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G |
Tmprss9 |
transmembrane serine protease 9 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955495:5,782,817...5,800,988
Ensembl chrNW_004955495:5,782,929...5,800,980
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G |
Asah1 |
N-acylsphingosine amidohydrolase 1 |
|
ISO |
ClinVar Annotator: match by term: Hereditary myoclonus and progressive distal muscular atrophy | ClinVar Annotator: match by term: MYOCLONUS, HEREDITARY, WITH PROGRESSIVE DISTAL MUSCULAR ATROPHY | ClinVar Annotator: match by term: Spinal muscular atrophy with progressive myoclonic epilepsy |
OMIM ClinVar |
PMID:16199547 PMID:22703880 PMID:24033266 PMID:24164096 PMID:24355074 PMID:25326635 PMID:25578555 PMID:25741868 PMID:25847462 PMID:26467025 PMID:26526000 PMID:27026573 PMID:27411168 PMID:27723502 PMID:28251733 PMID:28492532 PMID:28733637 PMID:29169047 PMID:29358611 PMID:30291339 PMID:32449975 PMID:34240417 More...
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NCBI chrNW_004955552:1,623,263...1,660,285
Ensembl chrNW_004955552:1,623,738...1,659,086
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G |
Cstb |
cystatin B |
|
ISO |
ClinVar Annotator: match by term: Unverricht-Lundborg syndrome |
OMIM ClinVar |
PMID:8596935 PMID:9012407 PMID:9054946 PMID:9342192 PMID:9360639 PMID:11814737 PMID:15329070 PMID:15483648 PMID:16155205 PMID:17003839 PMID:17920138 PMID:18028412 PMID:18925453 PMID:20078424 PMID:21757863 PMID:22154554 PMID:22936898 PMID:23205931 PMID:25741868 PMID:26467025 PMID:26843564 PMID:28492532 PMID:29358611 PMID:29915382 PMID:31440721 PMID:32581362 PMID:35478072 PMID:37541188 PMID:38247861 More...
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NCBI chrNW_004955407:41,475,533...41,478,943
Ensembl chrNW_004955407:41,475,533...41,479,150
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