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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 chr X:128,445,028...128,519,892
Ensembl chr X:128,453,577...128,455,785
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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 chr10:50,717,264...50,886,079
Ensembl chr10:50,717,271...50,888,145
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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 chr11:47,770,513...47,983,843
Ensembl chr11:47,838,358...47,978,399
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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 chr 5:2,353,543...2,378,950
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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 chr17:39,919,839...39,988,087
Ensembl chr17:39,919,772...39,986,868
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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 chr11:6,959,568...6,973,341
Ensembl chr11:6,964,784...6,972,801
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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 chr 1:602,594...609,388
Ensembl chr 1:602,721...607,893
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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 chr 1:593,914...601,603
Ensembl chr 1:593,890...598,585
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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 chr28:18,945,857...18,964,077
Ensembl chr28:18,946,072...18,961,182
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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 chr20:12,155,782...12,183,849
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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 chr23:64,422,519...64,512,124
Ensembl chr23:64,422,391...64,513,652
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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 chr20:12,523,798...12,541,970
Ensembl chr20:12,524,487...12,529,496
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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 chr20:12,358,758...12,395,372
Ensembl chr20:12,358,762...12,394,661
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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 chr20:12,439,726...12,490,331
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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 chr20:12,236,036...12,290,937
Ensembl chr20:12,236,145...12,290,956
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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 chr20:12,291,727...12,294,120
Ensembl chr20:12,291,070...12,294,311
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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 chr20:12,424,557...12,434,929
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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 chr20:12,345,078...12,351,699
Ensembl chr20:12,345,063...12,352,646
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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 chr10:51,490,204...51,653,916
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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 chr 6:29,962,993...29,972,845
Ensembl chr 6:29,962,843...29,973,325
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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 chr10:50,717,264...50,886,079
Ensembl chr10:50,717,271...50,888,145
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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 chr10:51,711,446...51,898,856
Ensembl chr10:51,714,931...51,829,621
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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 chr20:12,321,445...12,330,495
Ensembl chr20:12,321,292...12,330,746
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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 chr20:11,997,768...12,083,929
Ensembl chr20:11,998,527...12,083,528
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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 chr20:12,513,935...12,519,497
Ensembl chr20:12,515,429...12,519,402
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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 chr20:12,530,625...12,534,278
Ensembl chr20:12,531,052...12,533,694
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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 chr20:12,110,090...12,154,183
Ensembl chr20:12,109,717...12,154,201
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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 chr20:12,498,627...12,513,838
Ensembl chr20:12,498,644...12,514,343
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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 chr20:12,395,592...12,405,898
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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 chr 5:2,302,249...2,336,188
Ensembl chr 5:2,302,341...2,335,270
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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 chr 9:68,472,640...68,479,612
Ensembl chr 9:68,475,102...68,479,595
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G |
JMJD1C |
jumonji domain containing 1C |
|
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 chr 9:67,913,062...68,135,555
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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 chr21:89,091,939...89,575,464
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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, Severe |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:13,808,104...13,891,003
Ensembl chr 7:13,808,037...13,890,976
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G |
LOC103233654 |
GTP-binding protein Di-Ras1 |
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ISO |
Epilepsy, generalized myoclonic, with photosensitivity |
OMIA |
PMID:28223533 PMID:29194766 PMID:38003185 |
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NCBI chr 6:2,491,978...2,494,791
Ensembl chr 6:2,493,475...2,494,071
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G |
LOC103238261 |
tubulin alpha-1A chain |
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ISO |
ClinVar Annotator: match by term: Early myoclonic encephalopathy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30744660 PMID:31833200 |
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NCBI chr11:45,419,046...45,423,574
Ensembl chr11:45,418,748...45,423,685
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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 chr 9:68,150,245...68,173,388
Ensembl chr 9:68,151,057...68,159,455
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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 chr15:87,679,656...87,778,767
Ensembl chr15:87,679,077...87,779,102
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G |
SCN1A |
sodium voltage-gated channel alpha subunit 1 |
|
ISO |
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: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 chr10:51,490,204...51,653,916
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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 chr10:51,711,446...51,898,856
Ensembl chr10:51,714,931...51,829,621
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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 chr 1:593,914...601,603
Ensembl chr 1:593,890...598,585
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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 chr20:11,997,768...12,083,929
Ensembl chr20:11,998,527...12,083,528
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G |
TBC1D24 |
TBC1 domain family member 24 |
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ISO |
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 chr 5:2,353,543...2,378,950
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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 chr21:89,609,229...89,680,446
Ensembl chr21:89,609,124...89,680,297
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G |
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 chr 8:112,834,159...113,246,812
Ensembl chr 8:112,877,688...113,246,824
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G |
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 chr14:558,876...562,959
Ensembl chr14:561,057...562,400
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G |
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 chr14:613,118...636,542
Ensembl chr14:611,299...636,499
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G |
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 chr 4:9,891,847...9,970,617
Ensembl chr 4:9,891,580...9,970,300
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G |
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 chr15:5,607,788...5,716,245
Ensembl chr15:5,608,775...5,700,620
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G |
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 chr25:26,445,993...26,462,346
Ensembl chr25:26,453,242...26,462,549
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G |
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 chr25:26,180,898...26,221,424
Ensembl chr25:26,182,446...26,220,776
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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 chr25:27,261,506...27,272,477
Ensembl chr25:27,261,562...27,271,416
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G |
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 chr25:28,274,562...28,287,783
Ensembl chr25:28,286,370...28,286,987
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G |
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 chr25:25,602,857...25,716,385
Ensembl chr25:25,602,715...25,661,553
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G |
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 chr25:23,234,651...23,244,403
Ensembl chr25:23,234,823...23,241,159
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G |
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 chr25:26,032,404...26,036,500
Ensembl chr25:26,034,632...26,036,538
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G |
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 chr25:28,288,483...28,363,231
Ensembl chr25:28,289,342...28,363,327
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G |
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 chr25:28,542,480...28,659,197
Ensembl chr25:28,542,143...28,659,060
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G |
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 chr25:23,809,633...23,838,350
Ensembl chr25:23,809,352...23,838,345
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G |
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 chr25:26,160,993...26,169,005
Ensembl chr25:26,160,961...26,169,566
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G |
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 chr25:26,120,089...26,133,093
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G |
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 chr25:24,262,092...24,296,740
Ensembl chr25:24,261,651...24,296,850
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G |
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 chr25:27,908,426...27,932,107
Ensembl chr25:27,908,554...27,933,275
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G |
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 chr25:23,318,421...23,333,885
Ensembl chr25:23,319,248...23,332,980
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G |
CYB5R1 |
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 chr25:26,437,439...26,442,851
Ensembl chr25:26,437,334...26,444,110
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G |
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 chr25:28,730,217...28,755,879
Ensembl chr25:28,730,718...28,756,034
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G |
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 chr25:24,128,889...24,200,115
Ensembl chr25:24,128,899...24,195,085
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G |
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 chr25:22,718,056...22,728,143
Ensembl chr25:22,718,284...22,728,074
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G |
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 chr25:22,752,852...22,773,566
Ensembl chr25:22,752,926...22,773,568
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G |
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 chr25:27,390,707...27,398,312
Ensembl chr25:27,390,809...27,397,441
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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 chr25:23,714,591...23,731,330
Ensembl chr25:23,714,708...23,729,925
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G |
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 chr25:25,196,260...25,217,122
Ensembl chr25:25,196,324...25,217,916
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G |
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 chr25:23,147,233...23,185,148
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G |
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 chr25:25,992,006...26,002,909
Ensembl chr25:25,992,228...26,003,109
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G |
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 chr25:25,134,810...25,151,403
Ensembl chr25:25,135,616...25,151,395
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G |
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 chr25:28,529,682...28,533,545
Ensembl chr25:28,530,364...28,531,449
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G |
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 chr25:27,276,393...27,283,231
Ensembl chr25:27,277,360...27,283,350
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G |
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 chr25:28,173,011...28,207,977
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G |
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 chr25:22,865,720...22,892,346
Ensembl chr25:22,865,734...22,891,920
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G |
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 chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836
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G |
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 chr25:28,488,990...28,513,997
Ensembl chr25:28,488,901...28,509,704
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G |
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 chr25:27,533,114...27,585,273
Ensembl chr25:27,534,042...27,585,336
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G |
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 chr25:26,599,740...26,685,256
Ensembl chr25:26,600,736...26,683,632
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G |
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 chr25:28,789,952...28,856,713
Ensembl chr25:28,789,614...28,856,570
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G |
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 chr25:28,379,019...28,434,172
Ensembl chr25:28,379,014...28,434,170
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G |
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 chr25:25,151,642...25,159,723
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G |
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 chr25:23,982,566...24,002,959
Ensembl chr25:23,982,370...24,004,802
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G |
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 chr25:26,479,798...26,516,293
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G |
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 chr25:28,013,713...28,032,481
Ensembl chr25:28,013,826...28,031,076
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G |
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 chr25:25,569,543...25,583,523
Ensembl chr25:25,567,555...25,581,798
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G |
LEMD1 |
LEM domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr25:23,886,528...23,957,716
Ensembl chr25:23,894,573...23,957,434
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G |
LGR6 |
leucine rich repeat containing G protein-coupled receptor 6 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr25:27,093,242...27,218,694
Ensembl chr25:27,092,717...27,215,943
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G |
LMOD1 |
leiomodin 1 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr25:27,460,230...27,511,667
Ensembl chr25:27,460,460...27,511,024
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G |
LRRN2 |
leucine rich repeat neuronal 2 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr25:24,660,036...24,727,653
Ensembl chr25:24,724,833...24,726,974
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G |
MAPKAPK2 |
MAPK activated protein kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr25:22,632,180...22,681,250
Ensembl chr25:22,629,729...22,681,373
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G |
MDM4 |
MDM4 regulator of p53 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr25:24,797,238...24,843,034
Ensembl chr25:24,797,278...24,833,485
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G |
MFSD4A |
major facilitator superfamily domain containing 4A |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr25:23,740,916...23,774,514
Ensembl chr25:23,743,360...23,774,451
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G |
MYBPH |
myosin binding protein H |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr25:26,172,236...26,180,502
Ensembl chr25:26,172,495...26,179,656
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G |
MYOG |
myogenin |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr25:26,264,872...26,269,652
Ensembl chr25:26,266,717...26,268,867
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G |
NAV1 |
neuron navigator 1 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr25:27,593,875...27,872,515
Ensembl chr25:27,594,709...27,761,637
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G |
NFASC |
neurofascin |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr25:24,315,877...24,516,524
Ensembl chr25:24,321,574...24,474,635
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G |
NUAK2 |
NUAK family kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr25:24,016,909...24,036,640
Ensembl chr25:24,016,930...24,036,641
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G |
NUCKS1 |
nuclear casein kinase and cyclin dependent kinase substrate 1 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr25:23,597,210...23,634,262
Ensembl chr25:23,597,464...23,629,169
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G |
OPTC |
opticin |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr25:25,835,809...25,840,282
Ensembl chr25:25,835,906...25,839,749
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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 |
|
NCBI chr25:27,945,013...27,948,870
Ensembl chr25:27,945,608...27,945,991
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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 |
|
NCBI chr25:24,855,712...24,926,050
Ensembl chr25:24,855,766...24,926,346
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G |
PKP1 |
plakophilin 1 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr25:28,083,358...28,129,356
Ensembl chr25:28,081,983...28,128,173
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G |
PLEKHA6 |
pleckstrin homology domain containing A6 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr25:24,973,035...25,130,439
Ensembl chr25:25,000,340...25,130,573
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G |
PM20D1 |
peptidase M20 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr25:23,498,460...23,521,233
Ensembl chr25:23,498,845...23,520,637
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G |
PPFIA4 |
PTPRF interacting protein alpha 4 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr25:26,274,388...26,327,507
Ensembl chr25:26,276,014...26,305,025
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G |
PPP1R12B |
protein phosphatase 1 regulatory subunit 12B |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr25:26,832,411...27,063,528
Ensembl chr25:26,833,355...27,062,870
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G |
PPP1R15B |
protein phosphatase 1 regulatory subunit 15B |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr25:24,935,435...24,945,220
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G |
PRELP |
proline and arginine rich end leucine rich repeat protein |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr25:25,854,443...25,867,179
Ensembl chr25:25,851,674...25,867,177
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G |
PTPN7 |
protein tyrosine phosphatase non-receptor type 7 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr25:27,243,907...27,258,088
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G |
RAB29 |
RAB29, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr25:23,572,001...23,579,881
Ensembl chr25:23,572,542...23,577,695
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G |
RABIF |
RAB interacting factor |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr25:26,516,394...26,526,483
Ensembl chr25:26,518,124...26,526,329
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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 chr25:22,775,917...22,854,739
Ensembl chr25:22,774,661...22,807,353
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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 |
|
NCBI chr25:24,217,090...24,253,532
Ensembl chr25:24,217,125...24,256,420
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G |
REN |
renin |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr25:25,159,816...25,193,620
Ensembl chr25:25,183,037...25,193,420
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G |
RHEX |
regulator of hemoglobinization and erythroid cell expansion |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr25:23,248,283...23,266,664
Ensembl chr25:23,248,404...23,266,420
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G |
RNPEP |
arginyl aminopeptidase |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr25:27,401,749...27,426,371
Ensembl chr25:27,401,757...27,426,410
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G |
SHISA4 |
shisa family member 4 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr25:27,517,915...27,521,536
Ensembl chr25:27,518,369...27,521,219
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G |
SLC26A9 |
solute carrier family 26 member 9 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr25:23,406,997...23,432,003
Ensembl chr25:23,408,157...23,429,198
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G |
SLC41A1 |
solute carrier family 41 member 1 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr25:23,536,187...23,560,182
Ensembl chr25:23,535,263...23,560,174
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G |
SLC45A3 |
solute carrier family 45 member 3 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr25:23,666,388...23,689,816
Ensembl chr25:23,682,834...23,689,928
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G |
SNRPE |
small nuclear ribonucleoprotein polypeptide E |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr25:25,474,620...25,483,427
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G |
SOX13 |
SRY-box transcription factor 13 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr25:25,220,341...25,275,981
Ensembl chr25:25,221,945...25,235,449
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G |
SRGAP2 |
SLIT-ROBO Rho GTPase activating protein 2 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr25:22,897,699...23,147,097
Ensembl chr25:22,897,469...23,145,218
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G |
SYT2 |
synaptotagmin 2 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr25:26,702,627...26,821,108
Ensembl chr25:26,808,007...26,817,314
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G |
TIMM17A |
translocase of inner mitochondrial membrane 17A |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr25:27,436,066...27,450,512
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G |
TMCC2 |
transmembrane and coiled-coil domain family 2 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr25:24,066,163...24,110,847
Ensembl chr25:24,065,269...24,110,589
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G |
TMEM183A |
transmembrane protein 183A |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr25:26,329,213...26,346,850
Ensembl chr25:26,328,841...26,346,750
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G |
TMEM81 |
transmembrane protein 81 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr25:24,255,997...24,258,150
Ensembl chr25:24,256,951...24,257,718
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G |
TMEM9 |
transmembrane protein 9 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr25:28,230,915...28,266,835
Ensembl chr25:28,246,845...28,267,421
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G |
TNNI1 |
troponin I1, slow skeletal type |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr25:27,989,743...28,009,234
Ensembl chr25:27,997,709...28,002,646
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G |
TNNT2 |
troponin T2, cardiac type |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr25:28,035,563...28,054,322
Ensembl chr25:28,040,087...28,054,120
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G |
UBE2T |
ubiquitin conjugating enzyme E2 T |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr25:27,069,971...27,084,360
Ensembl chr25:27,070,240...27,081,749
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G |
ZBED6 |
zinc finger BED-type containing 6 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr25:25,541,014...25,547,258
Ensembl chr25:25,543,414...25,546,344
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G |
ZC3H11A |
zinc finger CCCH-type containing 11A |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr25:25,490,837...25,548,262
Ensembl chr25:25,489,127...25,541,281
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G |
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 chr 5:22,341,159...22,553,822
Ensembl chr 5:22,453,931...22,553,843
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G |
RAPGEF2 |
Rap guanine nucleotide exchange factor 2 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 7 |
OMIM ClinVar |
PMID:25741868 |
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NCBI chr 7:105,672,583...105,883,544
Ensembl chr 7:105,624,608...105,884,366
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G |
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 chr15:21,697,366...21,748,760
Ensembl chr15:21,706,675...21,749,470
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G |
SERPINB7 |
serpin family B member 7 |
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ISO |
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RGD |
PMID:16782060 |
RGD:7207386 |
NCBI chr18:15,992,154...16,020,001
Ensembl chr18:15,992,186...16,044,650
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G |
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 chr15:21,610,545...21,696,611
Ensembl chr15:21,610,791...21,645,701
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G |
NOL3 |
nucleolar protein 3 |
|
ISO |
ClinVar Annotator: match by term: Myoclonus, familial, 1 |
OMIM ClinVar |
PMID:22926851 PMID:25741868 |
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NCBI chr 5:60,281,492...60,286,865
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G |
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 chr11:47,770,513...47,983,843
Ensembl chr11:47,838,358...47,978,399
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G |
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 chr15:5,057,687...5,073,596
Ensembl chr15:5,057,900...5,073,184
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G |
GABRA1 |
gamma-aminobutyric acid type A receptor subunit alpha1 |
susceptibility |
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 |
ClinVar OMIM |
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 chr23:64,199,372...64,255,996
Ensembl chr23:64,200,752...64,255,996
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G |
CHRNA7 |
cholinergic receptor nicotinic alpha 7 subunit |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7 |
ClinVar |
PMID:25326635 PMID:25741868 |
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NCBI chr26:50,554,143...50,686,847
Ensembl chr26:50,551,829...50,686,803
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G |
EFHC1 |
EF-hand domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr17:20,011,684...20,083,639
Ensembl chr17:20,011,530...20,083,592
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G |
SCN3A |
sodium voltage-gated channel alpha subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7 |
ClinVar |
PMID:25741868 |
|
NCBI chr10:50,563,560...50,679,179
Ensembl chr10:50,563,568...50,637,179
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G |
SDHA |
succinate dehydrogenase complex flavoprotein subunit A |
|
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 chr 4:163,726...190,145
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G |
BRD2 |
bromodomain containing 2 |
|
ISO |
DNA:SNPs:promoter (human) |
RGD |
PMID:12830434 |
RGD:1358444 |
NCBI chr17:39,113,519...39,126,267
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G |
CACNA1G |
calcium voltage-gated channel subunit alpha1 G |
|
ISO |
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy |
ClinVar |
|
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NCBI chr16:42,710,640...42,776,736
Ensembl chr16:42,708,638...42,768,843
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G |
CACNB4 |
calcium voltage-gated channel auxiliary subunit beta 4 |
|
ISO |
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy |
ClinVar |
PMID:10762541 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr10:37,240,749...37,518,174
Ensembl chr10:37,246,991...37,388,059
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G |
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 chr 1:31,173,846...31,224,118
Ensembl chr 1:31,172,785...31,223,370
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G |
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 chr10:60,279,837...60,298,931
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G |
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 chr17:20,011,684...20,083,639
Ensembl chr17:20,011,530...20,083,592
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G |
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 chr23:64,199,372...64,255,996
Ensembl chr23:64,200,752...64,255,996
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G |
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 chr12:106,831,807...106,885,543
Ensembl chr12:106,832,034...106,886,385
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G |
JRK |
Jrk helix-turn-helix protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11463517 |
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NCBI chr 8:136,896,858...136,916,951
Ensembl chr 8:136,911,217...136,912,923
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G |
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 chr17:19,509,955...19,572,011
Ensembl chr17:19,510,106...19,572,002
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G |
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 chr13:26,152,974...26,266,676
Ensembl chr13:26,153,319...26,264,568
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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 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 chr17:54,017,947...54,020,015
Ensembl chr17:54,018,703...54,019,887
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G |
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 chr17:53,987,561...54,012,647
Ensembl chr17:53,987,559...54,014,650
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G |
IL1A |
interleukin 1 alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
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NCBI chr14:15,789,710...15,801,938
Ensembl chr14:15,789,013...15,796,611
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G |
IL1B |
interleukin 1 beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
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NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729
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G |
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 chr19:22,920,971...22,940,468
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G |
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 chr22:46,360,306...46,742,446
Ensembl chr22:46,368,243...46,662,220
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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-astatic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr22:46,157,063...46,169,833
Ensembl chr22:46,156,652...46,170,546
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G |
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 chr29:11,436,170...11,579,468
Ensembl chr29:11,450,799...11,579,594
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G |
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 chr 8:25,571,958...25,591,982
Ensembl chr 8:25,571,863...25,591,788
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G |
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 chr 2:87,551,341...87,555,145
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G |
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 chr13:26,152,974...26,266,676
Ensembl chr13:26,153,319...26,264,568
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G |
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 chr22:46,072,797...46,141,107
Ensembl chr22:46,072,761...46,140,713
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G |
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 chr22:46,144,575...46,150,638
Ensembl chr22:46,144,859...46,145,392
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G |
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 chr22:46,326,458...46,332,906
Ensembl chr22:46,325,913...46,330,962
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G |
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 chr16:60,630,505...60,664,596
Ensembl chr16:60,630,509...60,646,133
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G |
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 chr25:81,879,532...81,890,684
Ensembl chr25:81,878,111...81,890,701
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G |
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 chr22:46,204,600...46,279,863
Ensembl chr22:46,204,893...46,278,260
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G |
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 chr 2:14,510,176...14,623,054
Ensembl chr 2:14,510,464...14,619,023
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G |
LMNB2 |
lamin B2 |
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ISO |
ClinVar Annotator: match by term: Generalized myoclonic seizures |
ClinVar |
PMID:28492532 |
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NCBI chr 6:2,207,096...2,234,258
Ensembl chr 6:2,209,989...2,234,215
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G |
LOC103243271 |
leucine-rich repeat-containing protein 37A3 |
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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 chr16:59,592,891...59,634,813
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G |
PMP22 |
peripheral myelin protein 22 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17275665 |
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NCBI chr16:14,527,892...14,563,223
Ensembl chr16:14,527,672...14,563,171
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G |
POMC |
proopiomelanocortin |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:6088243 |
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NCBI chr14:82,491,296...82,499,289
Ensembl chr14:82,494,323...82,499,447
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G |
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 chr22:25,128,160...25,481,385
Ensembl chr22:25,133,352...25,303,131
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G |
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 chr 5:59,058,827...59,106,177
Ensembl chr 5:59,058,846...59,106,106
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G |
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 chr 7:105,672,583...105,883,544
Ensembl chr 7:105,624,608...105,884,366
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G |
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 chr 8:112,834,159...113,246,812
Ensembl chr 8:112,877,688...113,246,824
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G |
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 chr 7:24,658,734...24,714,631
Ensembl chr 7:24,658,211...24,714,597
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G |
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 chr10:51,490,204...51,653,916
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G |
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 chr22:46,336,909...46,357,435
Ensembl chr22:46,336,829...46,355,723
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G |
SEMA6B |
semaphorin 6B |
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ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy |
ClinVar |
PMID:25741868 |
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NCBI chr 6:4,276,548...4,304,738
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G |
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 chr20:89,974,567...90,007,977
Ensembl chr20:90,002,030...90,008,033
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G |
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: 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 chr22:47,033,436...47,076,785
Ensembl chr22:47,033,467...47,078,844
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G |
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 chr22:46,857,117...46,978,652
Ensembl chr22:46,857,569...46,978,088
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G |
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 chr 5:59,106,191...59,116,540
Ensembl chr 5:59,106,220...59,115,874
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G |
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 chr20:88,875,525...89,108,001
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G |
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 chr12:10,440,061...10,519,798
Ensembl chr12:10,439,801...10,519,777
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G |
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 chr22:46,284,624...46,321,473
Ensembl chr22:46,284,685...46,321,710
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G |
TNRC6A |
trinucleotide repeat containing adaptor 6A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29507423 |
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NCBI chr 5:22,341,159...22,553,822
Ensembl chr 5:22,453,931...22,553,843
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G |
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 chr22:46,184,621...46,203,065
Ensembl chr22:46,184,756...46,204,428
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G |
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 chr13:26,152,974...26,266,676
Ensembl chr13:26,153,319...26,264,568
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G |
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 chr17:54,017,947...54,020,015
Ensembl chr17:54,018,703...54,019,887
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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 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 chr17:54,017,947...54,020,015
Ensembl chr17:54,018,703...54,019,887
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G |
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 chr 5:2,302,249...2,336,188
Ensembl chr 5:2,302,341...2,335,270
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G |
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 chr 7:13,808,104...13,891,003
Ensembl chr 7:13,808,037...13,890,976
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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 chr15:87,679,656...87,778,767
Ensembl chr15:87,679,077...87,779,102
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G |
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 chr 5:2,353,543...2,378,950
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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 chr22:45,799,225...45,814,343
Ensembl chr22:45,799,645...45,814,870
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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 chr 6:36,166,586...36,195,343
Ensembl chr 6:36,166,262...36,195,363
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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 chr22:46,360,306...46,742,446
Ensembl chr22:46,368,243...46,662,220
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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 chr22:46,157,063...46,169,833
Ensembl chr22:46,156,652...46,170,546
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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 chr22:45,740,192...45,756,327
Ensembl chr22:45,740,351...45,756,390
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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 chr 6:11,883,353...12,307,023
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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 chr22:45,763,799...45,776,792
Ensembl chr22:45,762,499...45,774,597
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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 chr X:46,161,238...46,178,128
Ensembl chr X:46,170,651...46,177,244
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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 chr29:11,436,170...11,579,468
Ensembl chr29:11,450,799...11,579,594
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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 chr22:45,895,455...45,917,236
Ensembl chr22:45,895,249...45,910,658
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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 chr22:45,714,168...45,738,368
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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 chr22:45,960,253...45,969,973
Ensembl chr22:45,961,010...45,969,712
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DNM1 |
dynamin 1 |
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ISO |
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RGD |
PMID:27363778 |
RGD:11557016 |
NCBI chr12:9,874,098...9,927,737
Ensembl chr12:9,878,966...9,927,744
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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 chr22:45,990,708...46,015,697
Ensembl chr22:45,987,731...46,015,712
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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 chr22:46,072,797...46,141,107
Ensembl chr22:46,072,761...46,140,713
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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 chr22:46,144,575...46,150,638
Ensembl chr22:46,144,859...46,145,392
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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 chr15:86,252,816...86,836,363
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FMR1 |
Fragile X messenger ribonucleoprotein 1 |
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ISO |
protein:decreased expression:hippocampus, cytosol (rat) |
RGD |
PMID:23831253 |
RGD:11667971 |
NCBI chr X:122,635,383...122,674,298
Ensembl chr X:122,635,439...122,674,355
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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 chr22:46,326,458...46,332,906
Ensembl chr22:46,325,913...46,330,962
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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 chr22:45,944,385...45,960,188
Ensembl chr22:45,944,669...45,960,164
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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 chr22:45,929,339...45,943,749
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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 chr X:49,363,569...49,452,872
Ensembl chr X:49,364,909...49,387,050
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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 chr22:46,204,600...46,279,863
Ensembl chr22:46,204,893...46,278,260
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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 chr22:45,917,319...45,921,082
Ensembl chr22:45,917,444...45,920,250
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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 chr28:8,953,095...8,988,848
Ensembl chr28:8,952,957...8,988,672
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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 chr22:45,650,544...45,704,237
Ensembl chr22:45,650,556...45,713,176
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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 chr22:45,757,414...45,763,690
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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 chr 9:89,750,792...89,875,309
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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 chr X:46,179,842...46,182,769
Ensembl chr X:46,179,835...46,183,552
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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 chr22:45,970,474...45,978,764
Ensembl chr22:45,971,148...45,975,076
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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 chr24:12,344,951...12,615,669
Ensembl chr24:12,344,934...12,615,622
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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 chr 5:4,896,225...7,365,137
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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 chr22:45,848,749...45,857,122
Ensembl chr22:45,848,788...45,857,117
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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 chr10:51,490,204...51,653,916
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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 chr 6:29,962,993...29,972,845
Ensembl chr 6:29,962,843...29,973,325
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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 chr10:50,717,264...50,886,079
Ensembl chr10:50,717,271...50,888,145
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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 chr11:47,770,513...47,983,843
Ensembl chr11:47,838,358...47,978,399
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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 chr22:46,336,909...46,357,435
Ensembl chr22:46,336,829...46,355,723
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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 chr16:6,060,445...6,089,867
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SLC6A1 |
solute carrier family 6 member 1 |
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ISO |
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 chr22:47,033,436...47,076,785
Ensembl chr22:47,033,467...47,078,844
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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 chr22:46,857,117...46,978,652
Ensembl chr22:46,857,569...46,978,088
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SRGAP2 |
SLIT-ROBO Rho GTPase activating protein 2 |
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ISO |
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy |
ClinVar |
PMID:25741868 |
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NCBI chr25:22,897,699...23,147,097
Ensembl chr25:22,897,469...23,145,218
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STXBP1 |
syntaxin binding protein 1 |
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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 chr12:10,440,061...10,519,798
Ensembl chr12:10,439,801...10,519,777
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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 chr22:45,787,945...45,799,529
Ensembl chr22:45,786,012...45,798,019
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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 chr22:46,284,624...46,321,473
Ensembl chr22:46,284,685...46,321,710
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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 chr 5:2,353,543...2,378,950
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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 chr22:45,817,048...45,843,878
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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 chr22:46,184,621...46,203,065
Ensembl chr22:46,184,756...46,204,428
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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 chr X:46,183,278...46,188,564
Ensembl chr X:46,183,443...46,188,536
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KIF5A |
kinesin family member 5A |
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ISO |
ClinVar Annotator: match by term: KIF5A-related intractable neonatal myoclonus | ClinVar Annotator: match by term: Myoclonus, intractable, neonatal |
ClinVar OMIM |
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 chr11:53,458,795...53,493,801
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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 chr16:4,211,592...4,213,639
Ensembl chr16:4,211,692...4,213,232
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POMC |
proopiomelanocortin |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:1318289 |
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NCBI chr14:82,491,296...82,499,289
Ensembl chr14:82,494,323...82,499,447
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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 chr 5:21,021,181...21,107,746
Ensembl chr 5:21,022,133...21,107,824
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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 chr 4:163,726...190,145
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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 |
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 chr17:54,017,947...54,020,015
Ensembl chr17:54,018,703...54,019,887
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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 chr 2:86,098,818...86,176,101
Ensembl chr 2:86,099,414...86,179,949
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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 chr 2:88,780,954...88,915,672
Ensembl chr 2:88,833,707...88,918,066
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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 chr18:70,890,939...70,939,504
Ensembl chr18:70,891,554...70,939,352
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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 chr 2:87,622,839...87,735,552
Ensembl chr 2:87,654,097...87,730,785
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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 chr 2:88,019,122...88,031,998
Ensembl chr 2:88,019,522...88,031,801
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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 chr 7:24,505,862...24,614,799
Ensembl chr 7:24,577,172...24,616,629
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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 chr11:6,959,568...6,973,341
Ensembl chr11:6,964,784...6,972,801
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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 chr 2:85,769,419...85,837,269
Ensembl chr 2:85,766,996...85,837,182
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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 chr 7:24,806,412...24,921,781
Ensembl chr 7:24,806,543...24,904,107
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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 chr 7:24,087,771...24,137,348
Ensembl chr 7:24,087,771...24,137,214
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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 chr 6:17,331,021...17,351,542
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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 chr 2:88,065,948...88,074,820
Ensembl chr 2:88,063,604...88,075,289
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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 chr29:11,436,170...11,579,468
Ensembl chr29:11,450,799...11,579,594
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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 chr 5:26,320,132...26,343,009
Ensembl chr 5:26,320,061...26,337,402
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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: Progressive myoclonic epilepsy |
ClinVar |
PMID:18414213 PMID:24767253 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 3:56,074,701...56,086,433
Ensembl chr 3:56,076,226...56,086,963
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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 chr26:15,259,186...15,278,249
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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 chr 2:89,129,674...89,186,490
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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 chr 2:89,608,525...89,649,823
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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 chr 2:89,724,355...89,758,389
Ensembl chr 2:89,737,003...89,758,425
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G |
CSTB |
cystatin B |
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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: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 chr 2:87,551,341...87,555,145
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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 chr 2:89,916,904...89,934,889
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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 chr 7:24,526,657...24,529,193
Ensembl chr 7:24,526,680...24,529,130
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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 chr 7:24,540,401...24,543,456
Ensembl chr 7:24,541,767...24,542,832
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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 chr 7:24,507,121...24,513,830
Ensembl chr 7:24,507,130...24,513,121
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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: Progressive myoclonic epilepsy |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 2:303,195...310,618
Ensembl chr 2:307,988...310,475
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G |
DNMT3L |
DNA methyltransferase 3 like |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr 2:87,991,868...88,006,399
Ensembl chr 2:87,991,936...88,005,459
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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: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive | ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar Annotator: match by term: Myoclonic epilepsy, progressive, X-linked | 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 chr13:26,152,974...26,266,676
Ensembl chr13:26,153,319...26,264,568
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G |
FAM47E |
family with sequence similarity 47 member E |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
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NCBI chr 7:24,750,287...24,782,574
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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 chr 3:56,089,147...56,111,472
Ensembl chr 3:56,088,938...56,105,977
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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 chr 7:24,149,920...24,236,502
Ensembl chr 7:24,148,750...24,180,210
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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 chr 2:87,884,102...87,902,413
Ensembl chr 2:87,884,118...87,904,379
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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 chr16:60,630,505...60,664,596
Ensembl chr16:60,630,509...60,646,133
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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 chr 2:87,262,882...87,434,217
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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 chr 2:87,974,651...87,986,867
Ensembl chr 2:87,973,786...87,986,639
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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 chr 2:88,597,554...88,644,890
Ensembl chr 2:88,597,556...88,624,025
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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 chr 1:47,189,485...47,237,093
Ensembl chr 1:47,190,806...47,236,775
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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 chr28:2,255,817...2,276,616
Ensembl chr28:2,256,743...2,271,099
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G |
KRTAP12-1 |
keratin associated protein 12-1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr 2:88,397,074...88,398,186
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G |
KRTAP12-2 |
keratin associated protein 12-2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr 2:88,382,006...88,383,652
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G |
KRTAP12-3 |
keratin associated protein 12-3 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr 2:88,373,725...88,374,783
Ensembl chr 2:88,374,230...88,374,517
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G |
LMNB2 |
lamin B2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 6:2,207,096...2,234,258
Ensembl chr 6:2,209,989...2,234,215
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G |
LOC103219520 |
splicing factor U2AF 35 kDa subunit-like protein |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr 2:86,949,910...86,964,655
Ensembl chr 2:86,950,056...86,964,579
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G |
LOC103219558 |
serine/threonine-protein kinase SIK1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr 2:87,204,386...87,217,044
Ensembl chr 2:87,204,357...87,216,180
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G |
LOC103219922 |
keratin-associated protein 10-12 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr 2:88,292,219...88,295,532
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G |
LOC103219967 |
thrombospondin-type laminin G domain and EAR repeat-containing protein |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr 2:88,219,663...88,425,531
Ensembl chr 2:88,221,529...88,287,701
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G |
LOC103220313 |
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 chr 2:89,761,600...89,778,572
Ensembl chr 2:89,761,248...89,782,238
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G |
LOC103220344 |
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 chr 2:89,781,950...89,805,927
Ensembl chr 2:89,782,182...89,803,593
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G |
LOC103221104 |
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 chr 2:86,905,104...86,933,780
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G |
LOC103243271 |
leucine-rich repeat-containing protein 37A3 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/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 chr16:59,592,891...59,634,813
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G |
LOC119619328 |
keratin-associated protein 12-4 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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G |
LOC119619413 |
keratin-associated protein 10-3 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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G |
LRRC3 |
leucine rich repeat 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 chr 2:88,176,282...88,179,587
Ensembl chr 2:88,177,399...88,178,172
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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 chr 2:89,809,065...89,846,295
Ensembl chr 2:89,811,698...89,846,242
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G |
MCM3AP |
minichromosome maintenance complex component 3 associated protein |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr 2:89,852,450...89,900,002
Ensembl chr 2:89,852,447...89,890,054
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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 chr 7:75,043,740...75,096,894
Ensembl chr 7:75,046,545...75,072,258
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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 chr 7:24,420,378...24,450,010
Ensembl chr 7:24,423,052...24,449,793
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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 chr 2:86,750,630...86,759,744
Ensembl chr 2:86,750,648...86,759,826
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G |
NEU1 |
neuraminidase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25401298 |
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NCBI chr17:40,158,530...40,162,254
Ensembl chr17:40,158,679...40,161,723
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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 chr17:54,017,947...54,020,015
Ensembl chr17:54,018,703...54,019,887
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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 chr 7:24,616,645...24,649,595
Ensembl chr 7:24,613,767...24,650,359
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G |
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 chr 7:24,062,924...24,073,371
Ensembl chr 7:24,063,695...24,072,500
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G |
OPTN |
optineurin |
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ISO |
protein:increased expression:neuron, nucleus |
RGD |
PMID:22318854 |
RGD:6480499 |
NCBI chr 9:13,142,036...13,176,996
Ensembl chr 9:13,150,426...13,177,021
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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 chr 2:89,304,497...89,585,037
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G |
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 chr 2:89,934,888...90,046,767
Ensembl chr 2:89,936,210...90,046,328
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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 chr 2:86,541,151...86,656,390
Ensembl chr 2:86,541,326...86,658,157
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G |
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 chr 2:88,035,409...88,063,376
Ensembl chr 2:88,035,347...88,063,442
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G |
PKNOX1 |
PBX/knotted 1 homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr 2:86,857,155...86,882,365
Ensembl chr 2:86,856,632...86,881,550
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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 chr 2:88,949,293...88,973,007
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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 chr 7:24,371,242...24,407,311
Ensembl chr 7:24,371,587...24,406,695
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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 chr20:92,809,373...92,833,048
Ensembl chr20:92,809,552...92,833,244
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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 chr 2:85,686,292...85,761,365
Ensembl chr 2:85,685,932...85,742,611
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PRDM8 |
PR/SET domain 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 7:28,610,166...28,631,712
Ensembl chr 7:28,626,265...28,629,707
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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 chr11:38,696,771...38,819,324
Ensembl chr11:38,694,602...38,718,519
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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 chr22:25,128,160...25,481,385
Ensembl chr22:25,133,352...25,303,131
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PRNP |
prion protein (Kanno blood group) |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25401298 |
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NCBI chr 2:33,368,020...33,384,556
Ensembl chr 2:33,369,629...33,370,366
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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 chr 2:88,559,286...88,586,016
Ensembl chr 2:88,559,285...88,585,091
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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 chr 2:87,858,003...87,881,072
Ensembl chr 2:87,858,029...87,881,102
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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 chr 2:85,627,307...85,654,079
Ensembl chr 2:85,627,073...85,653,927
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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 chr 2:87,560,229...87,579,019
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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 chr 2:87,434,214...87,471,553
Ensembl chr 2:87,434,304...87,471,627
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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 chr 2:86,348,365...86,371,908
Ensembl chr 2:86,348,056...86,371,858
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SACS |
sacsin molecular chaperone |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25401298 |
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NCBI chr 3:3,217,640...3,323,801
Ensembl chr 3:3,216,397...3,323,754
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SCARB2 |
scavenger receptor class B 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 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 |
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 chr 7:24,658,734...24,714,631
Ensembl chr 7:24,658,211...24,714,597
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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 chr 7:24,458,854...24,496,946
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SERPINI1 |
serpin family I member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25401298 |
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NCBI chr15:21,610,545...21,696,611
Ensembl chr15:21,610,791...21,645,701
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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 chr 7:25,185,130...25,279,765
Ensembl chr 7:25,215,232...25,283,214
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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 chr 2:89,188,171...89,232,081
Ensembl chr 2:89,188,733...89,209,281
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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 chr 2:86,375,198...86,457,028
Ensembl chr 2:86,390,936...86,457,096
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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 chr 2:88,652,219...88,703,220
Ensembl chr 2:88,652,222...88,690,577
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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 chr 7:24,799,870...24,804,273
Ensembl chr 7:24,799,906...24,804,473
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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 chr 2:88,516,906...88,529,098
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TBC1D24 |
TBC1 domain family member 24 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25401298 |
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NCBI chr 5:2,353,543...2,378,950
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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 chr 2:86,239,101...86,244,491
Ensembl chr 2:86,239,105...86,243,795
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TFF2 |
trefoil factor 2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr 2:86,223,113...86,228,964
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TMPRSS3 |
transmembrane serine protease 3 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr 2:86,248,792...86,273,715
Ensembl chr 2:86,245,507...86,272,196
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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 chr 1:58,205,999...58,211,743
Ensembl chr 1:58,206,072...58,210,945
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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 chr 2:87,760,813...87,856,630
Ensembl chr 2:87,761,479...87,857,418
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TRPM2 |
transient receptor potential cation channel subfamily M member 2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr 2:88,082,391...88,170,340
Ensembl chr 2:88,087,448...88,170,344
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TSC1 |
TSC complex subunit 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17484760 |
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NCBI chr12:5,195,604...5,249,042
Ensembl chr12:5,195,675...5,244,157
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UBASH3A |
ubiquitin associated and SH3 domain containing A |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr 2:86,279,762...86,330,281
Ensembl chr 2:86,280,198...86,332,756
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UBE2G2 |
ubiquitin conjugating enzyme E2 G2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr 2:88,481,221...88,512,998
Ensembl chr 2:88,483,204...88,498,067
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UMODL1 |
uromodulin like 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr 2:85,894,102...86,023,577
Ensembl chr 2:85,959,746...86,019,950
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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 chr 7:24,236,601...24,325,575
Ensembl chr 7:24,236,698...24,325,630
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WDR4 |
WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr 2:86,715,939...86,745,972
Ensembl chr 2:86,716,922...86,745,547
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WNT9B |
Wnt family member 9B |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:21549339 PMID:28492532 |
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NCBI chr16:60,560,132...60,596,782
Ensembl chr16:60,581,258...60,586,596
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YBEY |
ybeY metalloendoribonuclease |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr 2:89,905,119...89,910,307
Ensembl chr 2:89,905,127...89,909,324
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ZBTB21 |
zinc finger and BTB domain containing 21 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr 2:85,871,708...85,894,964
Ensembl chr 2:85,875,805...85,879,005
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ANTXR2 |
ANTXR cell adhesion molecule 2 |
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ISO |
ClinVar Annotator: match by term: Early-onset Lafora body disease |
ClinVar |
PMID:28492532 |
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NCBI chr 7:28,345,849...28,499,818
Ensembl chr 7:28,375,899...28,499,522
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PRDM8 |
PR/SET domain 8 |
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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 chr 7:28,610,166...28,631,712
Ensembl chr 7:28,626,265...28,629,707
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SEMA6B |
semaphorin 6B |
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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 chr 6:4,276,548...4,304,738
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PRMT7 |
protein arginine methyltransferase 7 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 12 |
ClinVar |
PMID:25741868 PMID:33085104 |
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NCBI chr 5:59,058,827...59,106,177
Ensembl chr 5:59,058,846...59,106,106
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SLC7A6OS |
solute carrier family 7 member 6 opposite strand |
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ISO |
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 12 |
OMIM ClinVar |
PMID:25741868 PMID:33085104 |
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NCBI chr 5:59,106,191...59,116,540
Ensembl chr 5:59,106,220...59,115,874
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CSTB |
cystatin B |
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ISO |
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OMIM |
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NCBI chr 2:87,551,341...87,555,145
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PRICKLE1 |
prickle planar cell polarity protein 1 |
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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 chr11:38,696,771...38,819,324
Ensembl chr11:38,694,602...38,718,519
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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 chr 5:2,353,543...2,378,950
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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 chr 5:26,320,132...26,343,009
Ensembl chr 5:26,320,061...26,337,402
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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: 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 chr28:2,255,817...2,276,616
Ensembl chr28:2,256,743...2,271,099
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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 chr15:63,954,331...64,334,300
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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 chr 2:531,905...567,430
Ensembl chr 2:531,085...566,840
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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 chr 7:24,658,734...24,714,631
Ensembl chr 7:24,658,211...24,714,597
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FANCI |
FA complementation group I |
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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: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 chr29:7,788,983...7,864,505
Ensembl chr29:7,790,458...7,855,552
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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 chr14:59,375,602...59,400,252
Ensembl chr14:59,375,691...59,400,174
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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: 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 chr29:7,864,319...7,881,577
Ensembl chr29:7,863,277...7,882,068
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PRICKLE2 |
prickle planar cell polarity protein 2 |
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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: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 chr22:25,128,160...25,481,385
Ensembl chr22:25,133,352...25,303,131
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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 chr 9:94,006,183...94,012,783
Ensembl chr 9:94,006,188...94,013,164
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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 chr16:60,630,505...60,664,596
Ensembl chr16:60,630,509...60,646,133
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LOC103243271 |
leucine-rich repeat-containing protein 37A3 |
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ISO |
ClinVar Annotator: match by term: GOSR2-related condition | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 6 |
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 chr16:59,592,891...59,634,813
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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 chr20:2,767,864...2,780,336
Ensembl chr20:2,768,064...2,780,704
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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 chr 1:45,792,106...45,813,715
Ensembl chr 1:45,803,243...45,813,800
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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 chr 1:46,573,907...46,620,443
Ensembl chr 1:46,573,393...46,609,261
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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 chr 1:46,620,544...46,665,334
Ensembl chr 1:46,619,914...46,664,126
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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 chr 1:46,201,214...46,222,115
Ensembl chr 1:46,201,855...46,225,533
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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 chr 1:47,189,485...47,237,093
Ensembl chr 1:47,190,806...47,236,775
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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 chr 1:46,525,090...46,542,587
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LDHAL6A |
lactate dehydrogenase A like 6A |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:46,452,330...46,476,419
Ensembl chr 1:46,452,552...46,475,222
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LDHC |
lactate dehydrogenase C |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:46,480,425...46,528,307
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LOC103239275 |
serum amyloid A-4 protein |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:46,703,086...46,709,083
Ensembl chr 1:46,702,959...46,712,572
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LOC103239432 |
myoblast determination protein 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:47,250,927...47,254,572
Ensembl chr 1:47,251,551...47,253,284
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MRGPRX2 |
MAS related GPR family member X2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:45,925,912...45,932,284
Ensembl chr 1:45,930,332...45,931,324
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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 chr 1:47,323,579...47,428,029
Ensembl chr 1:47,325,745...47,425,607
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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 chr 1:46,134,109...46,197,246
Ensembl chr 1:46,153,340...46,199,002
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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 chr 1:46,868,005...46,894,634
Ensembl chr 1:46,868,143...46,894,914
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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 chr 1:46,956,423...47,185,574
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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 chr 1:46,289,350...46,315,653
Ensembl chr 1:46,289,466...46,316,910
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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 chr 1:46,220,818...46,227,848
Ensembl chr 1:46,224,426...46,227,727
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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 chr 1:46,921,682...46,947,906
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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 chr 1:46,401,889...46,451,122
Ensembl chr 1:46,402,024...46,450,916
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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 chr 1:46,332,198...46,396,855
Ensembl chr 1:46,334,562...46,400,375
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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 chr 1:47,428,181...47,477,578
Ensembl chr 1:47,437,596...47,477,834
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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 chr 1:45,819,877...45,873,302
Ensembl chr 1:45,820,339...45,854,299
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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 chr 6:17,496,163...17,523,144
Ensembl chr 6:17,496,215...17,523,298
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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 chr 6:17,331,021...17,351,542
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COMP |
cartilage oligomeric matrix protein |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:17,246,617...17,255,561
Ensembl chr 6:17,246,762...17,255,126
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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 chr 6:17,354,926...17,375,935
Ensembl chr 6:17,354,508...17,375,922
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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 chr 6:17,376,050...17,384,625
Ensembl chr 6:17,376,273...17,384,663
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GDF1 |
growth differentiation factor 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19243074 PMID:24033266 PMID:24782409 PMID:25741868 PMID:28492532 PMID:30800706 More...
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Ensembl chr 6:17,329,143...17,330,837
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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 chr 6:17,385,176...17,396,506
Ensembl chr 6:17,385,175...17,394,319
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LOC103234208 |
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 chr 6:17,648,714...17,660,931
Ensembl chr 6:17,648,758...17,660,877
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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 chr 6:17,669,412...17,671,640
Ensembl chr 6:17,669,933...17,671,398
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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 chr 6:17,657,069...17,669,872
Ensembl chr 6:17,657,942...17,671,417
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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 chr 6:17,529,048...17,577,092
Ensembl chr 6:17,529,312...17,577,093
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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 chr 6:17,453,085...17,496,161
Ensembl chr 6:17,455,840...17,492,313
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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 chr 6:17,586,202...17,604,835
Ensembl chr 6:17,584,268...17,601,206
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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 chr 6:17,291,189...17,328,768
Ensembl chr 6:17,291,175...17,330,193
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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 chr 6:1,678,836...1,687,370
Ensembl chr 6:1,676,438...1,687,353
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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 chr 6:1,278,045...1,287,257
Ensembl chr 6:1,279,036...1,284,946
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ADAT3 |
adenosine deaminase tRNA specific 3 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:1,695,897...1,705,718
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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 chr 6:2,047,756...2,051,073
Ensembl chr 6:2,048,319...2,050,958
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AP3D1 |
adaptor related protein complex 3 subunit delta 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:1,901,669...1,951,352
Ensembl chr 6:1,901,507...1,951,314
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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 chr 6:1,218,684...1,244,343
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G |
ATP8B3 |
ATPase phospholipid transporting 8B3 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:1,575,914...1,602,798
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G |
BTBD2 |
BTB domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:1,785,433...1,809,931
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G |
CSNK1G2 |
casein kinase 1 gamma 2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:1,743,018...1,781,844
Ensembl chr 6:1,743,061...1,783,406
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G |
CUNH19orf25 |
chromosome unknown C19orf25 homolog |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:1,245,150...1,250,512
Ensembl chr 6:1,245,729...1,250,461
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G |
DOT1L |
DOT1 like histone lysine methyltransferase |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:1,962,077...2,030,732
Ensembl chr 6:1,962,279...2,026,455
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G |
GADD45B |
growth arrest and DNA damage inducible beta |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:2,248,566...2,250,718
Ensembl chr 6:2,248,583...2,250,889
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G |
GNA11 |
G protein subunit alpha 11 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:2,858,880...2,887,694
Ensembl chr 6:2,858,937...2,887,704
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G |
GNG7 |
G protein subunit gamma 7 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:2,287,339...2,485,304
Ensembl chr 6:2,287,895...2,293,067
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G |
IZUMO4 |
IZUMO family member 4 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:1,897,533...1,900,266
Ensembl chr 6:1,897,573...1,900,295
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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 chr 6:1,657,265...1,668,431
Ensembl chr 6:1,659,316...1,668,327
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G |
LINGO3 |
leucine rich repeat and Ig domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:2,081,234...2,103,094
Ensembl chr 6:2,082,224...2,084,002
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G |
LMNB2 |
lamin B2 |
susceptibility |
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 chr 6:2,207,096...2,234,258
Ensembl chr 6:2,209,989...2,234,215
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G |
LOC103233614 |
cytochrome b-c1 complex subunit 10 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:1,378,019...1,388,975
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G |
LOC103233654 |
GTP-binding protein Di-Ras1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:2,491,978...2,494,791
Ensembl chr 6:2,493,475...2,494,071
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G |
LSM7 |
LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:2,108,212...2,121,547
Ensembl chr 6:2,108,212...2,121,571
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G |
MBD3 |
methyl-CpG binding domain protein 3 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:1,357,388...1,371,835
Ensembl chr 6:1,357,204...1,371,777
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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 chr 6:1,315,113...1,347,540
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G |
MKNK2 |
MAPK interacting serine/threonine kinase 2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:1,836,009...1,851,325
Ensembl chr 6:1,835,993...1,851,039
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G |
MOB3A |
MOB kinase activator 3A |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:1,872,426...1,897,476
Ensembl chr 6:1,870,701...1,885,300
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G |
OAZ1 |
ornithine decarboxylase antizyme 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:2,061,774...2,065,595
Ensembl chr 6:2,061,811...2,065,265
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G |
ONECUT3 |
one cut homeobox 3 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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Ensembl chr 6:1,540,584...1,569,628
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G |
PCSK4 |
proprotein convertase subtilisin/kexin type 4 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:1,253,729...1,264,114
Ensembl chr 6:1,254,276...1,263,847
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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 chr 6:2,066,731...2,074,189
Ensembl chr 6:2,067,476...2,072,727
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G |
PLEKHJ1 |
pleckstrin homology domain containing J1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:2,031,245...2,034,791
Ensembl chr 6:2,031,650...2,034,324
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G |
PLK5 |
polo like kinase 5 (inactive) |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:1,301,199...1,309,349
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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 chr 6:1,264,551...1,271,674
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G |
REXO1 |
RNA exonuclease 1 homolog |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:1,605,913...1,638,819
Ensembl chr 6:1,604,929...1,638,468
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G |
SCAMP4 |
secretory carrier membrane protein 4 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:1,695,545...1,718,633
Ensembl chr 6:1,695,876...1,719,189
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G |
SF3A2 |
splicing factor 3a subunit 2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:2,034,892...2,047,653
Ensembl chr 6:2,041,384...2,047,542
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G |
SGTA |
small glutamine rich tetratricopeptide repeat co-chaperone alpha |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:2,534,398...2,562,306
Ensembl chr 6:2,534,376...2,548,604
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G |
SLC39A3 |
solute carrier family 39 member 3 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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G |
SPPL2B |
signal peptide peptidase like 2B |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:2,121,568...2,142,746
Ensembl chr 6:2,121,634...2,144,682
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G |
TCF3 |
transcription factor 3 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:1,393,147...1,440,515
Ensembl chr 6:1,393,107...1,440,479
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G |
THOP1 |
thimet oligopeptidase 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:2,564,445...2,590,029
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G |
TIMM13 |
translocase of inner mitochondrial membrane 13 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:2,204,751...2,207,044
Ensembl chr 6:2,206,089...2,206,673
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G |
TLE2 |
TLE family member 2, transcriptional corepressor |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:2,770,558...2,792,228
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G |
TLE5 |
TLE family member 5, transcriptional modulator |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:2,822,814...2,832,625
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G |
TLE6 |
TLE family member 6, subcortical maternal complex member |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:2,750,838...2,768,451
Ensembl chr 6:2,751,525...2,768,269
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G |
TMPRSS9 |
transmembrane serine protease 9 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:2,148,025...2,205,398
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G |
ZNF554 |
zinc finger protein 554 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:2,595,297...2,610,917
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G |
ZNF555 |
zinc finger protein 555 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:2,617,392...2,632,038
Ensembl chr 6:2,628,241...2,631,603
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G |
ZNF556 |
zinc finger protein 556 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:2,649,000...2,662,610
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G |
ZNF77 |
zinc finger protein 77 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:2,709,670...2,719,315
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G |
ASAH1 |
N-acylsphingosine amidohydrolase 1 |
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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 chr 8:16,151,974...16,181,726
Ensembl chr 8:16,151,247...16,181,155
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G |
CSTB |
cystatin B |
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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 chr 2:87,551,341...87,555,145
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