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G |
LOC100992963 |
tenascin-X |
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ISO |
ClinVar Annotator: match by term: Myoclonus |
ClinVar |
PMID:25741868 |
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NCBI chr 6:31,687,994...31,756,279
Ensembl chr 6:32,571,199...32,626,155
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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:143,571,864...143,647,192
Ensembl chr X:153,465,204...153,527,854
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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 chr2B:52,514,918...52,667,225
Ensembl chr2B:169,928,323...170,027,509
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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 chr12:36,950,057...37,172,235
Ensembl chr12:37,730,900...37,876,357
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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 chr16:1,331,630...1,362,320
Ensembl chr16:2,581,835...2,603,912
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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 chr12:7,057,430...7,071,767
Ensembl chr12:6,978,576...6,990,580
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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 chr11:816,629...827,295
Ensembl chr11:860,899...867,436
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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 chr11:807,886...815,770
Ensembl chr11:851,998...858,121
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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 chr 7:2,797,551...2,815,847
Ensembl chr 7:2,892,302...2,910,143
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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 chr 1:126,869,973...126,897,024
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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 chr 5:157,436,113...157,529,586
Ensembl chr 5:164,068,122...164,222,179
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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 chr 1:126,508,575...126,515,165
Ensembl chr 1:130,157,237...130,163,752
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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 chr 1:126,653,794...126,689,690
Ensembl chr 1:130,300,844...130,336,311
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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 chr 1:126,547,793...126,598,618
Ensembl chr 1:130,195,974...130,246,198
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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 chr 1:126,761,777...126,818,262
Ensembl chr 1:130,407,426...130,463,909
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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 chr 1:126,758,604...126,760,989
Ensembl chr 1:130,404,234...130,406,638
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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 chr 1:126,603,753...126,616,553
Ensembl chr 1:130,251,323...130,264,256
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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 chr 1:126,699,772...126,706,486
Ensembl chr 1:130,345,977...130,352,317
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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 chr2B:53,258,614...53,348,131
Ensembl chr2B:170,736,651...170,822,014
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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 chr19:31,974,499...31,984,488
Ensembl chr19:40,711,281...40,724,052
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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 chr2B:52,514,918...52,667,225
Ensembl chr2B:169,928,323...170,027,509
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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 chr2B:53,468,290...53,643,747
Ensembl chr2B:170,944,974...171,054,013
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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 chr 1:126,723,445...126,731,852
Ensembl chr 1:130,369,065...130,377,419
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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 chr 1:126,968,370...127,052,942
Ensembl chr 1:130,612,787...130,695,863
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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 chr 1:126,519,159...126,525,502
Ensembl chr 1:130,167,570...130,173,663
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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 chr 1:126,504,849...126,508,578
Ensembl chr 1:130,156,187...130,156,741
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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 chr 1:126,898,611...126,941,893
Ensembl chr 1:130,543,043...130,586,147
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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 chr 1:126,525,642...126,539,432
Ensembl chr 1:130,174,051...130,187,785
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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 chr 1:126,643,627...126,654,154
Ensembl chr 1:130,294,126...130,300,949
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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 chr16:1,285,379...1,314,972
Ensembl chr16:2,529,371...2,556,438
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G |
DIRAS1 |
DIRAS family GTPase 1 |
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ISO |
Epilepsy, generalized myoclonic, with photosensitivity |
OMIA |
PMID:28223533 PMID:29194766 PMID:38003185 |
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NCBI chr19:1,738,941...1,745,786
Ensembl chr19:2,700,396...2,700,992
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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 chr10:59,320,073...59,326,869
Ensembl chr10:61,648,364...61,652,846
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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 chr10:59,674,227...60,028,763
Ensembl chr10:61,999,571...62,295,332
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G |
KCND2 |
potassium voltage-gated channel subfamily D member 2 |
|
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 chr 7:112,277,018...112,751,896
Ensembl chr 7:124,966,816...125,437,430
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G |
KIT |
KIT proto-oncogene, receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473
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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 chr10:59,640,101...59,662,071
Ensembl chr10:61,965,758...61,987,435
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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 chr 3:190,890,242...190,995,133
Ensembl chr 3:201,207,607...201,312,358
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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 chr2B:53,258,614...53,348,131
Ensembl chr2B:170,736,651...170,822,014
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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 chr2B:53,468,290...53,643,747
Ensembl chr2B:170,944,974...171,054,013
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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 chr11:807,886...815,770
Ensembl chr11:851,998...858,121
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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 chr 1:126,968,370...127,052,942
Ensembl chr 1:130,612,787...130,695,863
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TBC1D24 |
TBC1 domain family member 24 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile |
ClinVar |
PMID:18414213 PMID:22277662 PMID:23526554 PMID:24033266 PMID:24291220 PMID:24848745 PMID:25741868 PMID:25769375 PMID:26371875 PMID:26467025 PMID:27259978 PMID:27281533 PMID:28292732 PMID:28301460 PMID:28428906 PMID:28492532 PMID:28726039 PMID:28951997 PMID:29358611 PMID:30180405 PMID:30311386 PMID:30776697 PMID:31112829 PMID:31216405 PMID:32004315 PMID:33619735 More...
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NCBI chr16:1,331,630...1,362,320
Ensembl chr16:2,581,835...2,603,912
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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 chr 7:112,790,606...112,861,730
Ensembl chr 7:125,478,472...125,549,091
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SAMD12 |
sterile alpha motif domain containing 12 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 1 |
OMIM ClinVar |
PMID:25741868 |
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NCBI chr 8:114,823,792...115,312,738
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ADRA2B |
adrenoceptor alpha 2B |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 2 |
ClinVar |
PMID:25741868 PMID:27124789 PMID:27431290 PMID:31130284 PMID:37644014 |
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NCBI chr2A:103,198,432...103,202,506
Ensembl chr2A:97,040,126...97,041,472
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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 chr2A:103,106,863...103,130,490
Ensembl chr2A:97,111,420...97,132,081
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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 5:10,666,978...10,753,050
Ensembl chr 5:10,524,958...10,608,046
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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 chr 3:180,736,213...180,847,545
Ensembl chr 3:188,903,615...189,016,942
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ADIPOR1 |
adiponectin receptor 1 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:178,542,496...178,560,055
Ensembl chr 1:182,837,589...182,854,782
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ADORA1 |
adenosine A1 receptor |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:178,728,751...178,769,066
Ensembl chr 1:183,023,466...183,063,760
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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 chr 1:177,731,381...177,742,688
Ensembl chr 1:182,033,376...182,045,145
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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 chr 1:176,713,717...176,726,991
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ATP2B4 |
ATPase plasma membrane Ca2+ transporting 4 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:179,231,712...179,348,759
Ensembl chr 1:183,580,773...183,639,882
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AVPR1B |
arginine vasopressin receptor 1B |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:181,713,548...181,723,645
Ensembl chr 1:185,999,627...186,007,043
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BTG2 |
BTG anti-proliferation factor 2 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:178,907,317...178,911,410
Ensembl chr 1:183,201,297...183,205,404
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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 chr 1:176,639,189...176,712,171
Ensembl chr 1:180,941,836...181,014,823
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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 chr 1:176,339,766...176,460,808
Ensembl chr 1:180,644,200...180,764,136
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CDK18 |
cyclin dependent kinase 18 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:181,113,560...181,141,758
Ensembl chr 1:185,399,162...185,427,631
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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 chr 1:178,778,081...178,789,704
Ensembl chr 1:183,075,312...183,083,229
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CHIT1 |
chitinase 1 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:178,816,396...178,875,895
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CNTN2 |
contactin 2 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
OMIM ClinVar |
PMID:9536098 PMID:11178983 PMID:16199547 PMID:17576681 PMID:23518707 PMID:25741868 PMID:28492532 PMID:34691156 PMID:37359369 More...
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NCBI chr 1:180,645,259...180,680,081
Ensembl chr 1:184,931,497...184,966,482
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CSRP1 |
cysteine and glycine rich protein 1 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:177,081,772...177,105,448
Ensembl chr 1:181,382,994...181,406,863
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CTSE |
cathepsin E |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:181,617,421...181,632,260
Ensembl chr 1:185,900,746...185,915,519
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DDX59 |
DEAD-box helicase 59 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:176,227,065...176,270,421
Ensembl chr 1:180,532,445...180,571,460
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DSTYK |
dual serine/threonine and tyrosine protein kinase |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:180,750,987...180,820,096
Ensembl chr 1:185,041,994...185,107,041
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DYRK3 |
dual specificity tyrosine phosphorylation regulated kinase 3 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:182,237,556...182,255,984
Ensembl chr 1:186,517,041...186,530,272
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EIF2D |
eukaryotic translation initiation factor 2D |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:182,193,709...182,214,981
Ensembl chr 1:186,473,496...186,494,896
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ELF3 |
E74 like ETS transcription factor 3 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:177,607,265...177,613,234
Ensembl chr 1:181,908,747...181,915,354
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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 chr 1:181,216,587...181,242,023
Ensembl chr 1:185,509,937...185,518,452
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ETNK2 |
ethanolamine kinase 2 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:179,733,953...179,754,899
Ensembl chr 1:184,021,504...184,042,946
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FAM72A |
family with sequence similarity 72 member A |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:181,792,764...181,811,141
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FMOD |
fibromodulin |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:178,942,472...178,953,158
Ensembl chr 1:183,238,130...183,244,074
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GOLT1A |
golgi transport 1A |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:179,800,580...179,816,530
Ensembl chr 1:184,080,570...184,104,815 Ensembl chr 1:184,080,570...184,104,815
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GPR25 |
G protein-coupled receptor 25 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:176,473,049...176,474,934
Ensembl chr 1:180,776,181...180,777,215
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GPR37L1 |
G protein-coupled receptor 37 like 1 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:177,720,832...177,731,551
Ensembl chr 1:182,022,600...182,028,623
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IGFN1 |
immunoglobulin like and fibronectin type III domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:176,792,309...176,828,813
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IKBKE |
inhibitor of nuclear factor kappa B kinase subunit epsilon |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:182,070,565...182,096,797
Ensembl chr 1:186,351,807...186,377,971
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IL10 |
interleukin 10 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
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INAVA |
innate immunity activator |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:176,491,264...176,514,719
Ensembl chr 1:180,794,646...180,818,853
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IPO9 |
importin 9 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:177,426,144...177,480,948
Ensembl chr 1:181,727,697...181,775,242
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KDM5B |
lysine demethylase 5B |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:178,323,073...178,406,608
Ensembl chr 1:182,622,425...182,702,994
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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 chr 1:176,156,870...176,223,093
Ensembl chr 1:180,462,578...180,526,323
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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 chr 1:176,569,305...176,623,403
Ensembl chr 1:180,872,306...180,925,725
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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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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 chr 1:180,944,827...180,965,141
Ensembl chr 1:185,232,882...185,239,077
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KLHL12 |
kelch like family member 12 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:178,490,467...178,527,919
Ensembl chr 1:182,785,420...182,821,965
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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 chr 1:176,979,109...176,997,837
Ensembl chr 1:181,281,294...181,298,732
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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 chr 1:179,370,097...179,379,618
Ensembl chr 1:183,660,297...183,671,335
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G |
LEMD1 |
LEM domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:180,989,459...181,064,139
Ensembl chr 1:185,272,595...185,349,976
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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 chr 1:177,789,079...177,917,234
Ensembl chr 1:182,101,420...182,214,825
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|
G |
LMOD1 |
leiomodin 1 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:177,493,627...177,543,853
Ensembl chr 1:181,798,304...181,845,295
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G |
LOC100967245 |
NADH-cytochrome b5 reductase 1 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:178,563,539...178,568,997
Ensembl chr 1:182,858,966...182,864,381
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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 chr 1:180,208,932...180,287,250
Ensembl chr 1:184,507,321...184,509,462
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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 chr 1:182,286,854...182,336,306
Ensembl chr 1:186,608,158...186,613,911
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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 chr 1:180,117,364...180,151,144
Ensembl chr 1:184,406,124...184,439,344
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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 chr 1:181,177,517...181,211,432
Ensembl chr 1:185,474,032...185,497,408
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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 chr 1:178,769,183...178,777,737
Ensembl chr 1:183,065,021...183,072,188
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G |
MYOG |
myogenin |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:178,684,933...178,687,971
Ensembl chr 1:182,979,700...182,982,611
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G |
NAV1 |
neuron navigator 1 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:177,136,609...177,424,075
Ensembl chr 1:181,547,017...181,718,626
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|
G |
NFASC |
neurofascin |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:180,430,523...180,624,953
Ensembl chr 1:184,759,115...184,905,467
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G |
NUAK2 |
NUAK family kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:180,910,956...180,931,147
Ensembl chr 1:185,197,678...185,217,264
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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 chr 1:181,322,760...181,359,321
Ensembl chr 1:185,606,796...185,642,984
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G |
OPTC |
opticin |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:179,097,003...179,113,903
Ensembl chr 1:183,391,155...183,407,509
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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 chr 1:177,063,775...177,067,714
Ensembl chr 1:181,367,976...181,368,359
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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 chr 1:180,024,889...180,096,287
Ensembl chr 1:184,313,233...184,384,454
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G |
PKP1 |
plakophilin 1 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:176,881,154...176,930,814
Ensembl chr 1:181,182,829...181,232,347
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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 chr 1:179,821,249...179,980,149
Ensembl chr 1:184,109,553...184,164,492
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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 chr 1:181,437,045...181,459,103
Ensembl chr 1:185,720,642...185,742,757
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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 chr 1:178,628,003...178,680,528
Ensembl chr 1:182,922,758...182,975,300
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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 chr 1:177,945,674...178,185,871
Ensembl chr 1:182,243,497...182,482,216
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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 chr 1:180,002,895...180,014,956
Ensembl chr 1:184,293,640...184,302,316
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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 chr 1:179,077,892...179,092,796
Ensembl chr 1:183,372,028...183,386,619
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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 chr 1:177,744,963...177,759,611
Ensembl chr 1:182,049,084...182,061,151
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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 chr 1:181,377,018...181,384,496
Ensembl chr 1:185,661,317...185,668,066
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G |
RABIF |
RAB interacting factor |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:178,479,806...178,488,599
Ensembl chr 1:182,774,480...182,783,647
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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 chr 1:182,107,396...182,191,346
Ensembl chr 1:186,388,571...186,471,134
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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 chr 1:180,688,220...180,724,087
Ensembl chr 1:184,974,254...185,010,065
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G |
REN |
renin |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:179,757,653...179,769,530
Ensembl chr 1:184,046,117...184,057,393
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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 chr 1:181,704,422...181,709,056
Ensembl chr 1:185,973,510...185,992,391
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G |
RNPEP |
arginyl aminopeptidase |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:177,579,349...177,602,865
Ensembl chr 1:181,880,404...181,903,906
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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 chr 1:177,485,825...177,489,458
Ensembl chr 1:181,787,839...181,791,472
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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 chr 1:181,521,826...181,544,564
Ensembl chr 1:185,807,517...185,828,444
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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 chr 1:181,398,145...181,422,830
Ensembl chr 1:185,681,822...185,705,844
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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 chr 1:181,266,533...181,289,536
Ensembl chr 1:185,552,015...185,566,359
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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 chr 1:179,466,263...179,474,779
Ensembl chr 1:183,755,392...183,764,937
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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 chr 1:179,675,017...179,730,628
Ensembl chr 1:184,003,907...184,016,504
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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 chr 1:181,808,318...182,064,583
Ensembl chr 1:186,092,113...186,346,019
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G |
SYT2 |
synaptotagmin 2 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:178,187,872...178,308,522
Ensembl chr 1:182,490,401...182,538,123
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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 chr 1:177,552,399...177,567,148
Ensembl chr 1:181,854,412...181,868,960
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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 chr 1:180,836,861...180,882,276
Ensembl chr 1:185,123,484...185,168,975
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G |
TMEM183A |
transmembrane protein 183A |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:178,608,896...178,626,376
Ensembl chr 1:182,903,898...182,919,283
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G |
TMEM81 |
transmembrane protein 81 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:180,685,214...180,686,789
Ensembl chr 1:184,972,046...184,972,813
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G |
TMEM9 |
transmembrane protein 9 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:176,734,640...176,771,476
Ensembl chr 1:181,037,050...181,056,841
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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 chr 1:177,006,262...177,054,525
Ensembl chr 1:181,309,609...181,314,889
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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 chr 1:176,957,298...176,976,033
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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 chr 1:177,929,298...177,939,027
Ensembl chr 1:182,227,166...182,236,712
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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 chr 1:179,400,520...179,405,501
Ensembl chr 1:183,691,160...183,694,099
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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 chr 1:179,399,533...179,458,811
Ensembl chr 1:183,710,919...183,746,214
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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 |
|
Ensembl chr16:24,966,474...25,064,998
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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 |
|
NCBI chr 4:151,419,402...151,680,769
Ensembl chr 4:163,316,396...163,487,495
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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 |
|
NCBI chr 3:164,703,909...164,755,085
Ensembl chr 3:172,760,923...172,811,430
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G |
SERPINB7 |
serpin family B member 7 |
|
ISO |
|
RGD |
PMID:16782060 |
RGD:7207386 |
NCBI chr18:57,112,242...57,164,213
Ensembl chr18:60,445,135...60,475,165
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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 chr 3:164,755,803...164,845,572
Ensembl chr 3:172,865,891...172,902,372
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G |
NOL3 |
nucleolar protein 3 |
|
ISO |
ClinVar Annotator: match by term: Myoclonus, familial, 1 |
OMIM ClinVar |
PMID:22926851 PMID:25741868 |
|
NCBI chr16:47,516,156...47,521,441
Ensembl chr16:66,904,738...66,909,956
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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 chr12:36,950,057...37,172,235
Ensembl chr12:37,730,900...37,876,357
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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 chr 3:181,383,608...181,399,200
Ensembl chr 3:189,862,489...189,881,049
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G |
GABRA1 |
gamma-aminobutyric acid type A receptor subunit alpha1 |
|
ISO |
ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 | ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 13 |
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 chr 5:157,234,725...157,287,475
Ensembl chr 5:163,928,392...163,981,117
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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 chr 6:51,972,041...52,044,219
Ensembl chr 6:53,239,474...53,344,404
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G |
LOC100977072 |
neuronal acetylcholine receptor subunit alpha-7 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7 |
ClinVar |
PMID:25326635 PMID:25741868 |
|
NCBI chr15:10,525,535...10,667,227
Ensembl chr15:29,565,885...29,705,194
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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 chr2B:52,363,020...52,479,818
Ensembl chr2B:169,722,134...169,838,590
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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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Ensembl chr 5:356,087...399,923
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G |
BRD2 |
bromodomain containing 2 |
|
ISO |
DNA:SNPs:promoter (human) |
RGD |
PMID:12830434 |
RGD:1358444 |
NCBI chr 6:32,538,130...32,550,823
Ensembl chr 6:33,657,648...33,666,031
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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 chr17:44,654,558...44,786,037
Ensembl chr17:49,529,402...49,595,166
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CACNB4 |
calcium voltage-gated channel auxiliary subunit beta 4 |
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ISO |
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy |
ClinVar |
PMID:10762541 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr2B:39,137,777...39,399,007
Ensembl chr2B:156,379,469...156,639,328
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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 chr11:34,023,981...34,079,335
Ensembl chr11:33,902,072...33,957,134
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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 chr2B:62,022,498...62,039,370
Ensembl chr2B:179,476,677...179,504,763
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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 chr 6:51,972,041...52,044,219
Ensembl chr 6:53,239,474...53,344,404
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GABRA1 |
gamma-aminobutyric acid type A receptor subunit alpha1 |
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ISO |
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy |
ClinVar |
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NCBI chr 5:157,234,725...157,287,475
Ensembl chr 5:163,928,392...163,981,117
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HSD17B3 |
hydroxysteroid 17-beta dehydrogenase 3 |
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ISO |
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy |
ClinVar |
PMID:27899157 PMID:28492532 PMID:33468338 PMID:35432193 PMID:36110220 PMID:37741351 More...
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NCBI chr 9:67,327,047...67,411,754
Ensembl chr 9:95,451,031...95,522,739
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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 8:139,362,543...139,382,226
Ensembl chr 8:142,413,460...142,426,103
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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 chr 6:52,556,272...52,617,199
Ensembl chr 6:54,198,594...54,255,435
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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 chr 6:143,179,097...143,525,223
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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 chr 6:17,969,146...17,970,962
Ensembl chr 6:18,321,728...18,322,915
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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 chr 6:17,977,544...18,002,839
Ensembl chr 6:18,330,000...18,355,157
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IL1A |
interleukin 1 alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
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NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801
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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 chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
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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 chr22:21,249,920...21,271,749
Ensembl chr22:39,068,764...39,389,221
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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 chr 3:10,260,556...10,643,346
Ensembl chr 3:10,611,619...10,738,006
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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 chr 3:10,051,054...10,062,364
Ensembl chr 3:10,403,896...10,415,545
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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 chr15:71,568,560...71,713,330
Ensembl chr15:90,781,169...90,903,569
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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 8:26,729,767...26,749,277
Ensembl chr 8:23,932,846...23,952,377
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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 chr21:30,030,359...30,032,899
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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 chr 6:143,179,097...143,525,223
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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 chr 3:9,932,292...10,037,332
Ensembl chr 3:10,312,476...10,389,190
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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 chr 3:10,038,805...10,043,651
Ensembl chr 3:10,392,169...10,392,702
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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 chr 3:10,221,829...10,229,229
Ensembl chr 3:10,573,537...10,580,723
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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 chr17:10,561,574...10,580,489
Ensembl chr17:10,715,452...10,759,004
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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 chr 1:220,450,218...220,461,412
Ensembl chr 1:225,817,899...225,842,031
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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 chr 3:10,100,279...10,179,487
Ensembl chr 3:10,453,329...10,532,629
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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 chr20:45,636,371...45,821,536
Ensembl chr20:46,776,274...46,885,521
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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 chr19:1,440,462...1,469,601
Ensembl chr19:2,406,296...2,430,568
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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 chr17:36,389,549...36,425,161
Ensembl chr17:41,038,302...41,073,872
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G |
POMC |
proopiomelanocortin |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:6088243 |
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NCBI chr2A:25,161,668...25,165,600
Ensembl chr2A:25,258,768...25,262,706
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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 chr 3:63,995,566...64,347,679
Ensembl chr 3:65,377,760...65,723,662
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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 chr16:48,687,324...48,734,883
Ensembl chr16:68,086,620...68,127,953
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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 4:151,419,402...151,680,769
Ensembl chr 4:163,316,396...163,487,495
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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 8:114,823,792...115,312,738
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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 4:47,992,589...48,047,528
Ensembl chr 4:53,830,488...53,886,059
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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 chr2B:53,258,614...53,348,131
Ensembl chr2B:170,736,651...170,822,014
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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 chr 3:10,237,101...10,257,694
Ensembl chr 3:10,588,644...10,608,754
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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 chr19:3,562,673...3,600,981
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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 chr 1:42,224,273...42,257,184
Ensembl chr 1:43,600,733...43,634,143
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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 chr 3:10,930,455...10,976,968
Ensembl chr 3:11,296,023...11,323,624
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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 chr 3:10,753,412...10,878,333
Ensembl chr 3:11,101,336...11,222,948
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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 chr16:48,660,252...48,687,302
Ensembl chr16:68,068,854...68,081,643
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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 chr 1:43,006,963...43,232,968
Ensembl chr 1:44,409,904...44,603,658
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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 chr 9:98,731,527...98,811,608
Ensembl chr 9:127,434,080...127,486,152
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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 chr 3:10,184,220...10,217,099
Ensembl chr 3:10,536,852...10,568,824
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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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Ensembl chr16:24,966,474...25,064,998
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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 chr 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234
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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 chr 6:143,179,097...143,525,223
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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 chr 6:17,969,146...17,970,962
Ensembl chr 6:18,321,728...18,322,915
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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 chr 6:17,969,146...17,970,962
Ensembl chr 6:18,321,728...18,322,915
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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 chr16:1,285,379...1,314,972
Ensembl chr16:2,529,371...2,556,438
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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 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473
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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 chr 3:190,890,242...190,995,133
Ensembl chr 3:201,207,607...201,312,358
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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 chr16:1,331,630...1,362,320
Ensembl chr16:2,581,835...2,603,912
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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 chr 3:9,744,055...9,758,627
Ensembl chr 3:9,981,934...9,996,250
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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 chr19:38,854,243...38,882,034
Ensembl chr19:47,358,281...47,384,716
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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 chr 3:10,260,556...10,643,346
Ensembl chr 3:10,611,619...10,738,006
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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 chr 3:10,051,054...10,062,364
Ensembl chr 3:10,403,896...10,415,545
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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 chr 3:9,684,091...9,700,376
Ensembl chr 3:9,922,769...9,939,016
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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 chr19:12,769,586...13,189,022
Ensembl chr19:13,507,102...13,804,729
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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 chr 3:9,708,782...9,721,433
Ensembl chr 3:9,945,609...9,959,560
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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:41,341,834...41,367,761
Ensembl chr X:49,207,391...49,223,552
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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 chr15:71,568,560...71,713,330
Ensembl chr15:90,781,169...90,903,569
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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 chr 3:9,811,995...9,836,069
Ensembl chr 3:10,048,554...10,173,107
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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 chr 3:9,655,280...9,682,266
Ensembl chr 3:9,893,662...9,920,728
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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 chr 3:9,878,265...9,889,826
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DNM1 |
dynamin 1 |
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ISO |
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RGD |
PMID:27363778 |
RGD:11557016 |
NCBI chr 9:99,324,385...99,376,262
Ensembl chr 9:128,004,508...128,044,690
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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 chr 3:9,907,446...9,932,140
Ensembl chr 3:10,256,276...10,280,626
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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 chr 3:9,932,292...10,037,332
Ensembl chr 3:10,312,476...10,389,190
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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 chr 3:10,038,805...10,043,651
Ensembl chr 3:10,392,169...10,392,702
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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 chr 3:189,430,811...190,017,254
Ensembl chr 3:199,778,545...200,358,744
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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:136,937,889...136,976,828
Ensembl chr X:147,365,748...147,405,321
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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 chr 3:10,221,829...10,229,229
Ensembl chr 3:10,573,537...10,580,723
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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 chr 3:9,861,423...9,878,154
Ensembl chr 3:10,210,241...10,226,796
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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 chr 3:9,846,319...9,860,735
Ensembl chr 3:10,195,209...10,208,958
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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:45,447,977...45,535,836
Ensembl chr X:53,557,563...53,644,737
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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 chr 3:10,100,279...10,179,487
Ensembl chr 3:10,453,329...10,532,629
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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 chr 3:9,835,123...9,838,398
Ensembl chr 3:10,183,760...10,187,064
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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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Ensembl chr 7:81,231,876...81,271,282
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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 chr 3:9,600,866...9,653,860
Ensembl chr 3:9,839,821...9,892,055
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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 chr 3:9,702,311...9,742,283
Ensembl chr 3:9,940,955...9,947,335
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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 chr10:93,210,174...93,339,545
Ensembl chr10:96,714,159...96,841,131
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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:41,369,432...41,372,322
Ensembl chr X:49,224,864...49,233,960
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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 chr 3:9,890,336...9,897,263
Ensembl chr 3:10,238,720...10,246,127
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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 chr14:16,292,189...16,562,880
Ensembl chr14:34,472,880...34,743,430
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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 chr16:4,162,659...6,640,962
Ensembl chr16:5,418,607...7,889,215
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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 chr 3:9,788,950...9,795,189
Ensembl chr 3:10,025,320...10,031,639
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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 chr2B:53,258,614...53,348,131
Ensembl chr2B:170,736,651...170,822,014
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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 chr19:31,974,499...31,984,488
Ensembl chr19:40,711,281...40,724,052
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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 chr2B:52,514,918...52,667,225
Ensembl chr2B:169,928,323...170,027,509
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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 chr12:36,950,057...37,172,235
Ensembl chr12:37,730,900...37,876,357
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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 chr 3:10,237,101...10,257,694
Ensembl chr 3:10,588,644...10,608,754
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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 chr17:6,721,620...6,751,840
Ensembl chr17:6,709,647...6,738,683
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SLC6A1 |
solute carrier family 6 member 1 |
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ISO |
ClinVar Annotator: match by term: Early onset epileptic encephalopathy | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder |
OMIM ClinVar |
PMID:9536098 PMID:14744863 PMID:15496410 PMID:16199547 PMID:17576681 PMID:19344873 PMID:22235131 PMID:22495306 PMID:24859339 PMID:25363768 PMID:25640679 PMID:25741868 PMID:25741909 PMID:25865495 PMID:26467025 PMID:26716362 PMID:27541642 PMID:27824329 PMID:27959697 PMID:28135719 PMID:28191889 PMID:28213519 PMID:28492532 PMID:28708303 PMID:28856709 PMID:29315614 PMID:29358611 PMID:29933521 PMID:29961511 PMID:30132828 PMID:30525188 PMID:31031587 PMID:31302675 PMID:31332282 PMID:31401500 PMID:31780880 PMID:31785789 PMID:31981491 PMID:32005694 PMID:32398021 PMID:32469098 PMID:32581362 PMID:32660967 PMID:33004838 PMID:33241211 PMID:33961861 PMID:34006619 PMID:34028503 PMID:34120799 PMID:34489640 PMID:34653234 PMID:35701389 PMID:35761184 PMID:36674476 PMID:36895422 PMID:37502687 PMID:37647852 PMID:37700749 More...
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NCBI chr 3:10,930,455...10,976,968
Ensembl chr 3:11,296,023...11,323,624
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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 chr 3:10,753,412...10,878,333
Ensembl chr 3:11,101,336...11,222,948
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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 chr 1:181,808,318...182,064,583
Ensembl chr 1:186,092,113...186,346,019
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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 chr 9:98,731,527...98,811,608
Ensembl chr 9:127,434,080...127,486,152
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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 chr 3:9,731,462...9,744,513
Ensembl chr 3:9,969,550...9,982,389
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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 chr 3:10,184,220...10,217,099
Ensembl chr 3:10,536,852...10,568,824
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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 chr16:1,331,630...1,362,320
Ensembl chr16:2,581,835...2,603,912
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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 chr 3:9,759,871...9,786,690
Ensembl chr 3:9,999,144...10,035,633
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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 chr 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234
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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:41,372,722...41,400,441
Ensembl chr X:49,224,864...49,233,960
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KIF5A |
kinesin family member 5A |
susceptibility |
ISO |
ClinVar Annotator: match by term: KIF5A-related intractable neonatal myoclonus | ClinVar Annotator: match by term: Myoclonus, intractable, neonatal |
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 chr12:31,340,201...31,376,849
Ensembl chr12:31,599,376...31,635,327
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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 chr17:4,787,139...4,789,339
Ensembl chr17:4,777,157...4,779,403
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POMC |
proopiomelanocortin |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:1318289 |
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NCBI chr2A:25,161,668...25,165,600
Ensembl chr2A:25,258,768...25,262,706
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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 chr16:14,728,834...14,809,072
Ensembl chr16:23,555,388...23,634,873
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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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Ensembl chr 5:356,087...399,923
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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 chr 6:17,969,146...17,970,962
Ensembl chr 6:18,321,728...18,322,915
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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 chr21:28,534,697...28,619,590
Ensembl chr21:41,839,115...41,933,050
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G |
ADARB1 |
adenosine deaminase RNA specific B1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr21:31,374,841...31,532,721
Ensembl chr21:44,715,931...44,815,748
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G |
AFG3L2 |
AFG3 like matrix AAA peptidase subunit 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25401298 |
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NCBI chr18:1,951,279...1,999,313
Ensembl chr18:17,062,250...17,109,400
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G |
AGPAT3 |
1-acylglycerol-3-phosphate O-acyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr21:30,120,899...30,243,438
Ensembl chr21:43,479,513...43,540,453
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G |
AIRE |
autoimmune regulator |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr21:30,543,018...30,556,225
Ensembl chr21:43,837,340...43,848,974
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G |
ART3 |
ADP-ribosyltransferase 3 (inactive) |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
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NCBI chr 4:48,093,339...48,194,785
Ensembl chr 4:53,931,454...53,969,512
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G |
ATN1 |
atrophin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10814707 |
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NCBI chr12:7,057,430...7,071,767
Ensembl chr12:6,978,576...6,990,580
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G |
C22H21orf58 |
chromosome 22 C21orf58 homolog |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr21:32,641,582...32,665,117
Ensembl chr21:45,892,145...45,914,445
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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 |
|
NCBI chr21:28,208,474...28,277,366
Ensembl chr21:41,532,070...41,600,084
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G |
CBS |
cystathionine beta-synthase |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr21:29,361,519...29,385,610
Ensembl chr21:42,670,530...42,690,932
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G |
CCDC158 |
coiled-coil domain containing 158 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
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NCBI chr 4:47,779,913...47,888,386
Ensembl chr 4:53,628,428...53,727,331
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G |
CDKL2 |
cyclin dependent kinase like 2 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
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NCBI chr 4:48,575,933...48,628,916
Ensembl chr 4:54,415,305...54,458,111
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G |
CERS1 |
ceramide synthase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
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NCBI chr19:18,308,265...18,334,892
Ensembl chr19:19,317,173...19,342,487
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G |
CFAP410 |
cilia and flagella associated protein 410 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr21:30,585,802...30,595,981
Ensembl chr21:43,881,219...43,889,891
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G |
CHD2 |
chromodomain helicase DNA binding protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr15:71,568,560...71,713,330
Ensembl chr15:90,781,169...90,903,569
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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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G |
CLN5 |
CLN5 intracellular trafficking protein |
|
ISO |
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive | ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive |
ClinVar |
PMID:18414213 PMID:24767253 PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chr13:58,207,542...58,220,697
Ensembl chr13:77,253,203...77,263,759
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G |
CLN6 |
CLN6 transmembrane ER protein |
|
ISO |
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive |
ClinVar |
PMID:25741868 |
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NCBI chr15:47,156,583...47,215,805
Ensembl chr15:65,425,472...65,985,242
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G |
COL18A1 |
collagen type XVIII alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr21:31,720,358...31,834,470
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G |
COL6A1 |
collagen type VI alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr21:32,322,185...32,346,850
Ensembl chr21:45,584,096...45,607,240
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G |
COL6A2 |
collagen type VI alpha 2 chain |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr21:32,442,859...32,478,076
Ensembl chr21:45,710,491...45,730,895
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G |
CRYAA |
crystallin alpha A |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr21:29,414,308...29,480,655
Ensembl chr21:42,782,991...42,786,794
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G |
CSTB |
cystatin B |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:9012407 PMID:9054946 PMID:9342192 PMID:9360639 PMID:9536098 PMID:15329070 PMID:15483648 PMID:16155205 PMID:17003839 PMID:17576681 PMID:17920138 PMID:18028412 PMID:18925453 PMID:20078424 PMID:21757863 PMID:22936898 PMID:23091450 PMID:23205931 PMID:25741868 PMID:26467025 PMID:26843564 PMID:28492532 PMID:29358611 PMID:29915382 PMID:31440721 PMID:32581362 PMID:35478072 PMID:37541188 PMID:38247861 More...
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NCBI chr21:30,030,359...30,032,899
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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 |
|
NCBI chr 4:48,182,355...48,184,733
Ensembl chr 4:54,020,204...54,022,606
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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 |
|
NCBI chr 4:48,169,954...48,172,455
Ensembl chr 4:54,007,818...54,010,336
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G |
CXCL9 |
C-X-C motif chemokine ligand 9 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
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NCBI chr 4:48,198,478...48,204,658
Ensembl chr 4:54,036,342...54,042,502
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G |
DNAJC5 |
DnaJ heat shock protein family (Hsp40) member C5 |
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ISO |
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: PME | ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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Ensembl chr20:61,848,236...61,856,265
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G |
DNMT3L |
DNA methyltransferase 3 like |
|
ISO |
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr21:30,503,194...30,520,237
Ensembl chr21:43,798,778...43,814,283
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G |
EPM2A |
EPM2A glucan phosphatase, laforin |
|
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: 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 chr 6:143,179,097...143,525,223
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G |
FAM47E |
family with sequence similarity 47 member E |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
|
NCBI chr 4:47,916,493...47,949,816
Ensembl chr 4:53,756,619...53,826,800
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G |
FBXL3 |
F-box and leucine rich repeat protein 3 |
|
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 |
|
NCBI chr13:58,219,260...58,244,780
Ensembl chr13:77,266,496...77,283,651
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G |
FTCD |
formimidoyltransferase cyclodeaminase |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr21:32,481,042...32,501,932
Ensembl chr21:45,734,825...45,753,400
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G |
G3BP2 |
G3BP stress granule assembly factor 2 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
|
NCBI chr 4:48,481,019...48,563,664
Ensembl chr 4:54,317,504...54,399,374
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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 |
|
NCBI chr21:30,391,586...30,403,698
Ensembl chr21:43,687,461...43,699,536
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G |
GOSR2 |
golgi SNAP receptor complex member 2 |
|
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 chr17:10,561,574...10,580,489
Ensembl chr17:10,715,452...10,759,004
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G |
HSF2BP |
heat shock transcription factor 2 binding protein |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr21:29,787,768...29,916,089
Ensembl chr21:43,088,012...43,214,760
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G |
ICOSLG |
inducible T cell costimulator ligand |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr21:30,474,655...30,499,302
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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 |
|
NCBI chr21:31,181,228...31,216,033
Ensembl chr21:44,470,999...44,505,963
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G |
KCNC1 |
potassium voltage-gated channel subfamily C member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25401298 |
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NCBI chr11:17,788,010...17,936,591
Ensembl chr11:17,472,158...17,517,892
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G |
KCTD7 |
potassium channel tetramerization domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
|
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NCBI chr 7:59,392,366...59,435,993
Ensembl chr 7:73,687,952...73,697,728
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G |
LMNB2 |
lamin B2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
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NCBI chr19:1,440,462...1,469,601
Ensembl chr19:2,406,296...2,430,568
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G |
LOC100988625 |
keratin-associated protein 10-11 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr21:30,940,722...30,942,340
Ensembl chr21:44,235,427...44,236,323
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G |
LOC100989875 |
keratin-associated protein 10-7 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr21:30,895,205...30,896,781
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G |
LOC100990200 |
keratin-associated protein 10-9 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr21:30,906,737...30,922,668
Ensembl chr21:44,215,942...44,216,821
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G |
LOC100990544 |
keratin-associated protein 12-2 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr21:30,960,899...30,961,631
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G |
LOC100990879 |
keratin-associated protein 12-1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr21:30,973,102...30,973,742
Ensembl chr21:44,267,403...44,267,753
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G |
LOC100991542 |
keratin-associated protein 12-3 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr21:30,952,706...30,953,103
Ensembl chr21:44,247,114...44,247,404
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G |
LOC103787000 |
keratin-associated protein 10-3 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr21:30,995,608...30,996,315
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G |
LOC112438088 |
keratin-associated protein 10-12 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr21:30,988,028...30,989,931
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G |
LOC117977362 |
keratin-associated protein 10-1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr21:30,842,558...30,844,819
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G |
LOC117977363 |
keratin-associated protein 10-10 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr21:30,932,073...30,933,125
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G |
LOC134729714 |
keratin-associated protein 12-4 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr21:30,747,366...30,755,362
Ensembl chr21:44,047,140...44,047,913
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G |
LSS |
lanosterol synthase |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr21:32,535,564...32,571,379
Ensembl chr21:45,787,252...45,822,181
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G |
MCM3AP |
minichromosome maintenance complex component 3 associated protein |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr21:32,577,539...32,629,060
Ensembl chr21:45,828,554...45,878,100
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G |
MFSD8 |
major facilitator superfamily domain containing 8 |
|
ISO |
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive |
ClinVar |
PMID:28492532 |
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NCBI chr 4:120,087,477...120,137,550
Ensembl chr 4:131,391,361...131,439,590
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G |
NAAA |
N-acylethanolamine acid amidase |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
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NCBI chr 4:48,264,567...48,294,872
Ensembl chr 4:54,102,384...54,128,776
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G |
NDUFV3 |
NADH:ubiquinone oxidoreductase subunit V3 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr21:29,205,714...29,222,057
Ensembl chr21:42,516,295...42,531,750
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G |
NEU1 |
neuraminidase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25401298 |
|
NCBI chr 6:31,522,392...31,526,097
Ensembl chr 6:32,409,217...32,412,971
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G |
NHLRC1 |
NHL repeat containing E3 ubiquitin protein ligase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25401298 |
|
NCBI chr 6:17,969,146...17,970,962
Ensembl chr 6:18,321,728...18,322,915
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G |
NUP54 |
nucleoporin 54 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
|
NCBI chr 4:48,057,553...48,091,471
Ensembl chr 4:53,896,058...53,929,596
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G |
ODAPH |
odontogenesis associated phosphoprotein |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
|
NCBI chr 4:48,640,355...48,649,546
Ensembl chr 4:54,471,278...54,484,548
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G |
OPTN |
optineurin |
|
ISO |
protein:increased expression:neuron, nucleus |
RGD |
PMID:22318854 |
RGD:6480499 |
NCBI chr10:13,104,335...13,142,725
Ensembl chr10:13,077,345...13,115,773
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G |
PCBP3 |
poly(rC) binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr21:31,972,644...32,282,794
Ensembl chr21:45,450,722...45,545,909
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G |
PCNT |
pericentrin |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr21:32,665,361...32,741,592
Ensembl chr21:45,914,665...46,042,990
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G |
PDE9A |
phosphodiesterase 9A |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr21:28,963,181...29,088,395
Ensembl chr21:42,275,697...42,398,681
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G |
PFKL |
phosphofructokinase, liver type |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr21:30,557,576...30,584,231
Ensembl chr21:43,857,052...43,878,380
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G |
PKNOX1 |
PBX/knotted 1 homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr21:29,282,883...29,341,998
Ensembl chr21:42,622,065...42,647,329
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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 chr21:31,572,645...31,594,027
Ensembl chr21:44,855,437...44,876,862
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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 4:48,308,761...48,345,861
Ensembl chr 4:54,141,778...54,184,351
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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 chr 1:39,358,424...39,383,087
Ensembl chr 1:40,683,841...40,708,609
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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 chr21:28,122,173...28,202,837
Ensembl chr21:41,447,858...41,526,888
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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 4:43,993,635...44,014,430
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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 chr12:46,127,673...46,262,333
Ensembl chr12:47,100,393...47,126,102
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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 chr 3:63,995,566...64,347,679
Ensembl chr 3:65,377,760...65,723,662
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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 chr20:4,713,616...4,728,847
Ensembl chr20:4,523,155...4,523,916
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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 chr21:31,143,600...31,169,231
Ensembl chr21:44,438,136...44,459,586
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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 chr21:30,364,398...30,389,202
Ensembl chr21:43,660,425...43,685,044
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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 chr21:28,062,975...28,091,323
Ensembl chr21:41,389,654...41,417,472
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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 chr21:30,045,143...30,061,243
Ensembl chr21:43,343,786...43,358,401
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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 chr21:29,916,109...29,952,749
Ensembl chr21:43,217,516...43,251,192
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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 chr21:28,779,994...28,804,130
Ensembl chr21:42,098,212...42,121,610
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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 chr13:4,642,078...4,745,453
Ensembl chr13:22,937,320...22,982,553
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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 4:47,992,589...48,047,528
Ensembl chr 4:53,830,488...53,886,059
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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 4:48,214,836...48,255,872
Ensembl chr 4:54,052,727...54,093,544
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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 chr 3:164,755,803...164,845,572
Ensembl chr 3:172,865,891...172,902,372
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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 4:47,420,351...47,767,325
Ensembl chr 4:53,260,739...53,606,976
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SIK1 |
salt inducible kinase 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr21:29,675,040...29,689,408
Ensembl chr21:42,975,920...42,987,948
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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 chr21:31,836,774...31,883,829
Ensembl chr21:45,090,595...45,134,752
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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 chr21:28,821,106...28,891,158
Ensembl chr21:42,138,959...42,208,322
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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 chr21:31,235,306...31,271,814
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SPATC1L |
spermatogenesis and centriole associated 1 like |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr21:32,506,630...32,528,978
Ensembl chr21:45,759,213...45,780,611
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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 4:47,889,830...47,894,943
Ensembl chr 4:53,729,242...53,734,492
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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 chr21:31,098,812...31,112,286
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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 chr16:1,331,630...1,362,320
Ensembl chr16:2,581,835...2,603,912
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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 chr21:28,669,323...28,673,556
Ensembl chr21:41,988,039...41,992,270
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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 chr21:28,653,077...28,657,709
Ensembl chr21:41,973,111...41,977,227
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TFF3 |
trefoil factor 3 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr21:28,627,191...28,631,341
Ensembl chr21:41,948,696...41,952,268
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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 chr21:28,679,488...28,703,313
Ensembl chr21:41,997,642...42,022,740
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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 chr11:6,744,815...6,751,556
Ensembl chr11:6,427,522...6,434,222
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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 chr21:30,269,085...30,363,396
Ensembl chr21:43,581,617...43,656,740
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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 chr21:30,606,825...30,737,313
Ensembl chr21:43,903,811...44,035,298
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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 chr 9:104,007,708...104,060,938
Ensembl chr 9:132,638,003...132,675,759
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TSPEAR |
thrombospondin type laminin G domain and EAR repeats |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr21:30,791,051...31,005,330
Ensembl chr21:44,087,591...44,299,041
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U2AF1 |
U2 small nuclear RNA auxiliary factor 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr21:29,399,601...29,414,156
Ensembl chr21:42,707,738...42,719,086
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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 chr21:28,711,107...28,755,405
Ensembl chr21:42,029,709...42,073,746
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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 chr21:31,062,516...31,095,044
Ensembl chr21:44,355,235...44,388,373
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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 chr21:28,394,457...28,462,082
Ensembl chr21:41,717,761...41,783,172
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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 4:48,391,293...48,480,909
Ensembl chr 4:54,229,601...54,317,158
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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 chr21:29,161,429...29,191,672
Ensembl chr21:42,472,371...42,502,336
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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 chr17:10,616,957...10,651,954
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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 chr21:32,628,599...32,638,914
Ensembl chr21:45,879,824...45,888,717
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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 chr21:28,310,177...28,333,713
Ensembl chr21:41,633,208...41,656,714
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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 4:44,124,282...44,284,949
Ensembl chr 4:49,972,472...50,132,738
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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 4:43,993,635...44,014,430
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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 chr19:3,562,673...3,600,981
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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 chr16:48,687,324...48,734,883
Ensembl chr16:68,086,620...68,127,953
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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 chr16:48,660,252...48,687,302
Ensembl chr16:68,068,854...68,081,643
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CSTB |
cystatin B |
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ISO |
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OMIM |
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NCBI chr21:30,030,359...30,032,899
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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 chr12:46,127,673...46,262,333
Ensembl chr12:47,100,393...47,126,102
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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 chr16:1,331,630...1,362,320
Ensembl chr16:2,581,835...2,603,912
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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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KCTD7 |
potassium channel tetramerization domain containing 7 |
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ISO |
ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 14 | ClinVar Annotator: match by term: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 14 | ClinVar Annotator: match by term: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS | ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 3, with intracellular inclusions |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17455289 PMID:17576681 PMID:18414213 PMID:22606975 PMID:22638565 PMID:22693283 PMID:22748208 PMID:25060828 PMID:25326635 PMID:25533962 PMID:25640679 PMID:25741868 PMID:25976102 PMID:26467025 PMID:26795593 PMID:27742667 PMID:28492532 PMID:29056246 PMID:29302074 PMID:29619247 PMID:29655203 PMID:30295347 PMID:30500434 PMID:30776697 PMID:30825425 PMID:30919572 PMID:31130284 PMID:31216804 PMID:31965297 PMID:32412666 PMID:32581362 PMID:34469883 PMID:34866617 PMID:35921411 PMID:36034301 PMID:37541188 PMID:38231304 More...
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NCBI chr 7:59,392,366...59,435,993
Ensembl chr 7:73,687,952...73,697,728
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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 chr 3:19,063,663...19,461,752
Ensembl chr 3:19,498,421...19,787,890
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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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Ensembl chr20:61,581,331...61,618,718
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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 4:47,992,589...48,047,528
Ensembl chr 4:53,830,488...53,886,059
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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 |
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 chr15:67,935,882...68,009,033
Ensembl chr15:87,142,871...87,215,271
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G |
MSH6 |
mutS homolog 6 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 |
ClinVar |
PMID:23621914 PMID:24033266 PMID:25142776 PMID:25326637 PMID:25741868 PMID:25980754 PMID:26689913 PMID:28492532 PMID:29684080 PMID:29945567 PMID:30267214 PMID:31159747 PMID:31332305 PMID:31391288 PMID:31422574 PMID:31921681 PMID:33471991 PMID:34445333 PMID:35980532 More...
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NCBI chr2A:47,901,591...47,926,662
Ensembl chr2A:48,824,350...48,849,779
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G |
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 chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739
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G |
PRICKLE2 |
prickle planar cell polarity protein 2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 5 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:21276947 PMID:23711981 PMID:24088041 PMID:25326635 PMID:25741868 PMID:26467025 PMID:26633545 PMID:26942291 PMID:26942292 PMID:28492532 PMID:29358611 More...
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NCBI chr 3:63,995,566...64,347,679
Ensembl chr 3:65,377,760...65,723,662
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G |
TWNK |
twinkle mtDNA helicase |
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ISO |
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 |
ClinVar |
PMID:21689831 PMID:25741868 PMID:28492532 |
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NCBI chr10:97,588,811...97,595,663
Ensembl chr10:101,065,096...101,071,407
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G |
GOSR2 |
golgi SNAP receptor complex member 2 |
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ISO |
ClinVar Annotator: match by term: GOSR2-related condition | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 6 |
OMIM ClinVar |
PMID:16199547 PMID:19057520 PMID:21549339 PMID:23449775 PMID:24458321 PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28982678 PMID:29855340 PMID:31440721 PMID:32032478 PMID:33639315 PMID:34167170 PMID:37895210 More...
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NCBI chr17:10,561,574...10,580,489
Ensembl chr17:10,715,452...10,759,004
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G |
NDUFS2 |
NADH:ubiquinone oxidoreductase core subunit S2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 6 |
ClinVar |
PMID:22200994 PMID:25326637 PMID:25741868 PMID:28492532 |
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NCBI chr 1:136,609,822...136,626,851
Ensembl chr 1:140,526,690...140,538,705
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G |
CSRP3 |
cysteine and glycine rich protein 3 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr11:19,208,025...19,228,000
Ensembl chr11:19,121,234...19,140,820
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G |
GTF2H1 |
general transcription factor IIH subunit 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr11:18,357,594...18,402,268
Ensembl chr11:18,042,824...18,086,898
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G |
HPS5 |
HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr11:18,313,846...18,357,558
Ensembl chr11:17,999,116...18,042,724
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G |
IGSF22 |
immunoglobulin superfamily member 22 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr11:18,734,271...18,757,370
Ensembl chr11:18,648,773...18,668,678
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G |
KCNC1 |
potassium voltage-gated channel subfamily C member 1 |
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ISO |
ClinVar Annotator: match by term: KCNC1-related condition | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25363768 PMID:25401298 PMID:25741868 PMID:26467025 PMID:27629860 PMID:28145425 PMID:28380698 PMID:28488083 PMID:28492532 PMID:28714951 PMID:29428275 PMID:29894724 PMID:31216804 PMID:31353855 PMID:31353862 PMID:31440721 PMID:32972906 PMID:33163565 PMID:33349918 PMID:33725338 PMID:33735526 PMID:34232791 PMID:35299674 PMID:36028527 PMID:36034301 More...
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NCBI chr11:17,788,010...17,936,591
Ensembl chr11:17,472,158...17,517,892
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G |
LDHA |
lactate dehydrogenase A |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr11:18,432,347...18,445,694
Ensembl chr11:18,115,250...18,128,400
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G |
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 chr11:18,493,842...18,517,691
Ensembl chr11:18,176,824...18,200,673
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G |
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 chr11:18,450,117...18,489,321
Ensembl chr11:18,132,829...18,172,055
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G |
LOC100972004 |
mas-related G-protein coupled receptor member X1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr11:18,960,202...18,961,386
Ensembl chr11:18,874,205...18,875,173
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G |
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 chr11:19,080,807...19,087,039
Ensembl chr11:18,995,499...18,996,488
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G |
MRGPRX3 |
MAS related GPR family member X3 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr11:18,183,247...18,189,153
Ensembl chr11:17,870,060...17,871,028
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G |
MRGPRX4 |
MAS related GPR family member X4 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr11:18,225,283...18,226,720
Ensembl chr11:17,906,013...17,906,981
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G |
MYOD1 |
myogenic differentiation 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr11:17,772,317...17,774,884
Ensembl chr11:17,456,124...17,458,690
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G |
OTOG |
otogelin |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr11:17,601,738...17,701,472
Ensembl chr11:17,287,150...17,386,100
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G |
PTPN5 |
protein tyrosine phosphatase non-receptor type 5 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr11:18,758,285...18,822,845
Ensembl chr11:18,673,366...18,711,885
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G |
SAA1 |
serum amyloid A1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr11:18,301,367...18,305,137
Ensembl chr11:17,986,725...17,990,414
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G |
SAA2 |
serum amyloid A2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr11:18,280,393...18,283,913
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G |
SAA4 |
serum amyloid A4, constitutive |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr11:18,266,445...18,271,931
Ensembl chr11:17,951,775...17,957,317
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G |
SAAL1 |
serum amyloid A like 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr11:18,109,721...18,159,103
Ensembl chr11:17,815,521...17,841,282
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G |
SERGEF |
secretion regulating guanine nucleotide exchange factor |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr11:17,841,133...18,066,211
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G |
SPTY2D1 |
SPT2 chromatin protein domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr11:18,636,884...18,665,108
Ensembl chr11:18,321,700...18,580,419
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G |
TMEM86A |
transmembrane protein 86A |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr11:18,729,053...18,739,491
Ensembl chr11:18,643,548...18,650,206
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G |
TPH1 |
tryptophan hydroxylase 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr11:18,070,576...18,099,539
Ensembl chr11:17,754,893...17,778,076
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G |
TSG101 |
tumor susceptibility 101 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr11:18,518,110...18,564,814
Ensembl chr11:18,189,868...18,248,149
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G |
UEVLD |
UEV and lactate/malate dehyrogenase domains |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr11:18,567,463...18,626,604
Ensembl chr11:18,252,594...18,307,767
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G |
USH1C |
USH1 protein network component harmonin |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr11:17,548,501...17,598,923
Ensembl chr11:17,233,854...17,284,256
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G |
ZDHHC13 |
zinc finger DHHC-type palmitoyltransferase 13 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr11:19,143,181...19,202,424
Ensembl chr11:19,056,902...19,115,261
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G |
ARMC6 |
armadillo repeat containing 6 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,471,692...18,497,896
Ensembl chr19:19,474,320...19,498,511
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G |
BORCS8 |
BLOC-1 related complex subunit 8 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,615,221...18,630,230
Ensembl chr19:19,617,791...19,632,239
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G |
CERS1 |
ceramide synthase 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19243074 PMID:24033266 PMID:24782409 PMID:25741868 PMID:28492532 PMID:30800706 More...
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NCBI chr19:18,308,265...18,334,892
Ensembl chr19:19,317,173...19,342,487
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G |
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 chr19:18,222,270...18,230,936
Ensembl chr19:19,229,562...19,238,008
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G |
COPE |
COPI coat complex subunit epsilon |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,337,678...18,357,399
Ensembl chr19:19,345,680...19,364,737
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G |
DDX49 |
DEAD-box helicase 49 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,357,682...18,366,614
Ensembl chr19:19,364,949...19,373,869
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G |
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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NCBI chr19:18,306,513...18,334,328
Ensembl chr19:19,317,173...19,342,487
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G |
HOMER3 |
homer scaffold protein 3 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,367,191...18,379,454
Ensembl chr19:19,374,442...19,385,392
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G |
MEF2B |
myocyte enhancer factor 2B |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,583,770...18,609,757
Ensembl chr19:19,585,920...19,610,256
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G |
NR2C2AP |
nuclear receptor 2C2 associated protein |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,639,380...18,641,725
Ensembl chr19:19,640,163...19,642,179
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G |
RFXANK |
regulatory factor X associated ankyrin containing protein |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,630,221...18,639,840
Ensembl chr19:19,631,847...19,640,619
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G |
SLC25A42 |
solute carrier family 25 member 42 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,501,567...18,550,368
Ensembl chr19:19,504,325...19,553,158
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G |
SUGP2 |
SURP and G-patch domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,429,029...18,471,958
Ensembl chr19:19,436,661...19,473,103
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G |
TMEM161A |
transmembrane protein 161A |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,557,799...18,576,722
Ensembl chr19:19,560,046...19,578,779
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G |
UPF1 |
UPF1 RNA helicase and ATPase |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,269,878...18,306,199
Ensembl chr19:19,292,725...19,313,224
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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 chr19:875,447...883,977
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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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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 chr19:910,954...912,687
Ensembl chr19:1,890,437...1,891,748
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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 chr19:1,260,219...1,263,395
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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 chr19:1,110,419...1,161,826
Ensembl chr19:2,085,540...2,137,593
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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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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 chr19:779,958...810,455
Ensembl chr19:1,761,992...1,791,878
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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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C20H19orf25 |
chromosome 20 C19orf25 homolog |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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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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G |
DIRAS1 |
DIRAS family GTPase 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr19:1,738,941...1,745,786
Ensembl chr19:2,700,396...2,700,992
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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 chr19:1,173,915...1,243,633
Ensembl chr19:2,147,031...2,210,039
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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 chr19:1,489,263...1,491,391
Ensembl chr19:2,451,837...2,453,992
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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 chr19:2,120,398...2,149,161
Ensembl chr19:3,074,483...3,102,124
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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 chr19:1,525,479...1,723,139
Ensembl chr19:2,489,311...2,498,934
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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 chr19:1,106,258...1,109,009
Ensembl chr19:2,080,205...2,082,944
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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 chr19:850,840...862,130
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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 chr19:1,299,345...1,317,706
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LMNB2 |
lamin B2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar OMIM |
PMID:9536098 PMID:16826530 PMID:17576681 PMID:22768673 PMID:22995991 PMID:25741868 PMID:25954030 PMID:26467025 PMID:27535533 PMID:28166811 PMID:28492532 PMID:32041611 More...
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NCBI chr19:1,440,462...1,469,601
Ensembl chr19:2,406,296...2,430,568
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LOC100970584 |
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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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 chr19:1,330,469...1,337,610
Ensembl chr19:2,302,280...2,313,255
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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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Ensembl chr19:1,549,184...1,559,254
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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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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 chr19:1,045,316...1,059,023
Ensembl chr19:2,018,822...2,032,429
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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 chr19:1,080,455...1,106,215
Ensembl chr19:2,053,856...2,068,807
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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 chr19:1,279,139...1,283,079
Ensembl chr19:2,250,678...2,254,179
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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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NCBI chr19:750,413...773,295
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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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Ensembl chr19:1,452,924...1,466,438
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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 chr19:1,284,060...1,292,131
Ensembl chr19:2,256,726...2,262,586
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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 chr19:1,244,171...1,247,942
Ensembl chr19:2,212,851...2,218,751
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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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Ensembl chr19:1,497,953...1,505,995
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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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Ensembl chr19:1,467,186...1,473,988
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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 chr19:813,643...847,137
Ensembl chr19:1,796,434...1,813,387
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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 chr19:914,220...925,244
Ensembl chr19:1,893,577...1,904,452
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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 chr19:1,247,812...1,259,984
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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 chr19:1,778,728...1,808,199
Ensembl chr19:2,736,565...2,763,440
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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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NCBI chr19:1,756,535...1,764,099
Ensembl chr19:2,714,852...2,722,654
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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 chr19:1,337,570...1,355,755
Ensembl chr19:2,309,360...2,331,951
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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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Ensembl chr19:1,582,297...1,622,025
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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 chr19:1,810,316...1,839,523
Ensembl chr19:2,765,550...2,793,235
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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 chr19:1,438,221...1,440,190
Ensembl chr19:2,404,691...2,406,207
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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 chr19:2,023,018...2,055,317
Ensembl chr19:2,972,618...3,004,565
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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 chr19:2,078,933...2,089,117
Ensembl chr19:3,030,550...3,040,375
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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 chr19:2,003,011...2,020,577
Ensembl chr19:2,953,184...2,978,179
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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 chr19:1,402,052...1,438,710
Ensembl chr19:2,373,815...2,404,215
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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 chr19:1,844,240...1,859,038
Ensembl chr19:2,800,761...2,810,657
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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 chr19:1,891,975...1,903,601
Ensembl chr19:2,817,142...2,831,994 Ensembl chr19:2,817,142...2,831,994
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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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Ensembl chr19:2,844,288...2,853,150
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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 chr19:1,958,391...1,970,374
Ensembl chr19:2,910,461...2,921,590
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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 8:17,272,632...17,300,902
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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 chr21:30,030,359...30,032,899
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