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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:124,735,523...124,789,063
Ensembl chr X:124,735,656...124,738,659
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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 chr15:71,864,753...71,999,219
Ensembl chr15:71,864,784...71,999,211
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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 chr 5:16,977,468...17,173,831
Ensembl chr 5:16,977,700...17,169,543
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G |
TBC1D24 |
TBC1 domain family member 24 |
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ISO |
ClinVar Annotator: match by term: Myoclonus |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 3:39,545,688...39,572,320
Ensembl chr 3:39,545,218...39,571,277
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G |
TNXB |
tenascin XB |
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ISO |
ClinVar Annotator: match by term: Myoclonus |
ClinVar |
PMID:25741868 |
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NCBI chr 7:24,088,873...24,155,815
Ensembl chr 7:24,088,881...24,150,596
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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 chr 5:63,782,159...63,795,648
Ensembl chr 5:63,782,162...63,795,648
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G |
PIDD1 |
p53-induced death domain protein 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 3 |
ClinVar |
PMID:25741868 |
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NCBI chr 2:499,294...505,740
Ensembl chr 2:499,303...504,871
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G |
SLC25A22 |
solute carrier family 25 member 22 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 3 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 3 |
OMIM ClinVar |
PMID:15592994 PMID:18414213 PMID:19780765 PMID:24596948 PMID:25033742 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31589614 More...
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NCBI chr 2:491,288...498,773
Ensembl chr 2:491,293...498,767
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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 3:1,905,648...1,918,229
Ensembl chr 3:1,905,656...1,918,227
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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 4:97,704,805...97,730,498
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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 chr16:61,441,622...61,543,375
Ensembl chr16:61,441,632...61,543,361
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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 4:98,082,551...98,093,427
Ensembl chr 4:98,082,540...98,095,322
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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 4:97,918,234...97,949,929
Ensembl chr 4:97,918,245...97,949,931
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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 4:98,012,941...98,062,166
Ensembl chr 4:98,012,945...98,056,815
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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 4:97,776,579...97,833,287
Ensembl chr 4:97,776,589...97,833,282
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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 4:97,835,544...97,837,909
Ensembl chr 4:97,835,547...97,837,921
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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 4:97,994,060...98,004,727
Ensembl chr 4:97,994,065...98,004,688
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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 4:97,901,955...97,913,283
Ensembl chr 4:97,902,172...97,913,283
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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 chr15:72,529,866...72,696,715
Ensembl chr15:72,529,875...72,678,066
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G |
SCN1B |
sodium voltage-gated channel beta subunit 1 |
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ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
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NCBI chr 6:44,597,461...44,607,488
Ensembl chr 6:44,597,482...44,607,481
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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 chr15:71,864,753...71,999,219
Ensembl chr15:71,864,784...71,999,211
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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 chr15:72,745,706...72,912,352
Ensembl chr15:72,748,705...72,912,382
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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 4:97,860,925...97,894,007
Ensembl chr 4:97,837,981...97,894,301
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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 4:97,533,643...97,620,816
Ensembl chr 4:97,525,181...97,620,788
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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 4:98,074,380...98,079,346
Ensembl chr 4:98,074,387...98,079,343
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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 4:98,093,426...98,096,819
Ensembl chr 4:98,093,426...98,096,531
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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 4:97,648,817...97,704,654
Ensembl chr 4:97,648,818...97,703,592
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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 4:98,062,261...98,074,074
Ensembl chr 4:98,062,256...98,074,059
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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 4:97,949,931...97,959,058
Ensembl chr 4:97,949,931...97,958,882
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G |
CCNF |
cyclin F |
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ISO |
ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile |
ClinVar |
PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 PMID:26467025 PMID:27259978 PMID:27281533 PMID:28301460 PMID:28492532 PMID:28951997 PMID:29358611 More...
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NCBI chr 3:39,585,597...39,603,088
Ensembl chr 3:39,585,607...39,603,079
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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 chr 2:75,921,145...75,927,231
Ensembl chr 2:75,908,509...75,929,151
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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 chr14:66,280,665...66,291,308
Ensembl chr14:66,284,581...66,291,299
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G |
JMJD1C |
jumonji domain containing 1C |
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ISO |
ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22495311 PMID:25741868 PMID:26181491 PMID:28166811 PMID:28492532 PMID:31785789 PMID:31954878 More...
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NCBI chr14:66,640,845...66,966,911
Ensembl chr14:66,640,849...66,920,324
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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 chr18:26,139,457...26,624,210
Ensembl chr18:26,139,457...26,623,233
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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 8:41,402,334...41,492,306
Ensembl chr 8:41,402,043...41,493,734
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G |
NRBF2 |
nuclear receptor binding factor 2 |
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ISO |
ClinVar Annotator: match by term: Early myoclonic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr14:66,590,307...66,629,573
Ensembl chr14:66,590,372...66,631,363
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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 chr13:130,624,771...130,718,345
Ensembl chr13:130,624,796...130,719,083
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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 chr15:72,529,866...72,696,715
Ensembl chr15:72,529,875...72,678,066
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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 chr15:72,745,706...72,912,352
Ensembl chr15:72,748,705...72,912,382
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SLC25A22 |
solute carrier family 25 member 22 |
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ISO |
ClinVar Annotator: match by term: Early myoclonic encephalopathy ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe |
ClinVar |
PMID:15592994 PMID:18414213 PMID:19780765 PMID:25033742 PMID:25741868 PMID:26467025 PMID:27843123 PMID:27864847 PMID:28454995 PMID:28492532 PMID:29924869 More...
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NCBI chr 2:491,288...498,773
Ensembl chr 2:491,293...498,767
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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 4:97,533,643...97,620,816
Ensembl chr 4:97,525,181...97,620,788
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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 chr 3:39,545,688...39,572,320
Ensembl chr 3:39,545,218...39,571,277
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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 chr18:26,046,645...26,112,924
Ensembl chr18:26,046,703...26,112,918
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TUBA1A |
tubulin alpha 1a |
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ISO |
ClinVar Annotator: match by term: Early myoclonic encephalopathy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30744660 PMID:31833200 |
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NCBI chr 5:15,186,059...15,190,211
Ensembl chr 5:15,185,532...15,190,428
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G |
SAMD12 |
sterile alpha motif domain containing 12 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 1 |
OMIM ClinVar |
PMID:25741868 |
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NCBI chr 4:20,143,614...20,570,780
Ensembl chr 4:20,143,883...20,570,768
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G |
ADRA2B |
adrenoceptor alpha 2B |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 2 |
ClinVar |
PMID:25741868 PMID:27124789 PMID:27431290 PMID:31130284 PMID:37644014 |
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NCBI chr 3:45,760,966...45,762,306
Ensembl chr 3:45,760,541...45,764,175
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STARD7 |
StAR related lipid transfer domain containing 7 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 2 |
OMIM ClinVar |
PMID:25741868 |
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NCBI chr 3:46,992,708...47,017,668
Ensembl chr 3:46,992,777...47,019,206
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MARCHF6 |
membrane associated ring-CH-type finger 6 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 3 |
OMIM ClinVar |
PMID:25741868 |
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NCBI chr16:72,043,294...72,127,869
Ensembl chr16:72,044,093...72,127,863
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YEATS2 |
YEATS domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 4 | ClinVar Annotator: match by term: YEATS2-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr13:121,637,823...121,746,131
Ensembl chr13:121,637,874...121,746,122
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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 chr10:24,907,491...24,923,540
Ensembl chr10:24,907,491...24,915,686
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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 9:113,835,279...113,875,899
Ensembl chr 9:113,835,921...113,872,365
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ARL8A |
ADP ribosylation factor 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 chr10:24,314,929...24,324,225
Ensembl chr10:24,314,932...24,324,228
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ASCL5 |
achaete-scute family bHLH transcription factor 5 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr10:23,568,676...23,569,987
Ensembl chr10:23,569,391...23,569,927
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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 9:64,336,354...64,445,669
Ensembl chr 9:64,336,499...64,445,663
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AVPR1B |
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 9:66,769,472...66,776,916
Ensembl chr 9:66,772,591...66,776,931
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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 9:64,033,853...64,037,795
Ensembl chr 9:64,031,832...64,035,837
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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 chr10:23,503,701...23,567,797
Ensembl chr10:23,502,898...23,568,058
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CAMSAP2 |
calmodulin regulated spectrin associated protein family member 2 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr10:23,275,302...23,360,167
Ensembl chr10:23,275,322...23,360,167
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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 9:66,175,539...66,202,799
Ensembl chr 9:66,175,678...66,202,795
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CHI3L1 |
chitinase 3 like 1 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:113,885,541...113,895,033
Ensembl chr 9:113,885,542...113,895,131
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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 9:113,927,715...113,941,445
Ensembl chr 9:113,927,720...113,941,433
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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 9:65,737,488...65,776,412
Ensembl chr 9:65,736,740...65,776,396
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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 chr10:23,843,130...23,864,020
Ensembl chr10:23,843,134...23,864,016
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CYB5R1 |
cytochrome b5 reductase 1 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr10:24,926,167...24,931,772
Ensembl chr10:24,925,410...24,931,917
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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 chr10:23,198,879...23,222,530
Ensembl chr10:23,198,798...23,221,067
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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 9:65,833,050...65,892,024
Ensembl chr 9:65,833,054...65,891,999
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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 9:67,268,600...67,279,617
Ensembl chr 9:67,268,633...67,280,111
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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 9:67,240,586...67,261,250
Ensembl chr 9:67,240,588...67,261,223
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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 chr10:24,237,852...24,242,266
Ensembl chr10:24,237,875...24,243,058
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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 9:66,293,038...66,316,239
Ensembl chr 9:66,297,338...66,323,168
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G |
ETNK2 |
ethanolamine kinase 2 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:64,785,565...64,807,116
Ensembl chr 9:64,785,567...64,807,056
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G |
FAM72A |
family with sequence similarity 72 member A |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:66,824,251...66,839,780
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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 9:64,062,995...64,073,853
Ensembl chr 9:64,063,001...64,073,858
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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 chr10:23,369,202...23,370,620
Ensembl chr10:23,369,321...23,370,418
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G |
GPR37L1 |
G protein-coupled receptor 37 like 1 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr10:24,306,731...24,315,093
Ensembl chr10:24,307,058...24,315,103
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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 chr10:23,628,967...23,660,631
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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 9:67,123,055...67,147,991
Ensembl chr 9:67,123,265...67,147,989
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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 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
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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 chr10:23,392,202...23,414,318
Ensembl chr10:23,392,099...23,412,712
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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 chr10:24,110,126...24,150,294
Ensembl chr10:24,110,064...24,150,291
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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 chr10:24,739,115...24,831,537
Ensembl chr10:24,736,838...24,831,447
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KIF14 |
kinesin family member 14 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr10:23,123,379...23,177,919
Ensembl chr10:23,123,480...23,174,273
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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 chr10:23,444,997...23,491,081
Ensembl chr10:23,445,000...23,491,181
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G |
KISS1 |
KiSS-1 metastasis suppressor |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:64,842,277...64,853,653
Ensembl chr 9:64,834,820...64,853,610
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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 9:66,018,517...66,026,632
Ensembl chr 9:66,013,573...66,025,854
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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 chr10:23,767,204...23,779,743
Ensembl chr10:23,766,872...23,778,654
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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 9:64,460,548...64,473,232
Ensembl chr 9:64,460,693...64,473,621
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LEMD1 |
LEM domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:66,058,418...66,088,865
Ensembl chr 9:66,058,405...66,087,678
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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 chr10:24,358,946...24,454,430
Ensembl chr10:24,359,774...24,454,428
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G |
LMOD1 |
leiomodin 1 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:24,165,293...24,194,823
Ensembl chr10:24,164,792...24,193,820
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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 9:65,279,480...65,352,792
Ensembl chr 9:65,279,485...65,352,945
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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 9:67,314,651...67,365,060
Ensembl chr 9:67,314,609...67,366,470
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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 9:65,175,488...65,219,747
Ensembl chr 9:65,175,377...65,219,742
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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 9:66,249,434...66,292,482
Ensembl chr 9:66,249,678...66,288,338
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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 9:113,872,439...113,884,544
Ensembl chr 9:113,872,441...113,882,719
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G |
MYOG |
myogenin |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:113,783,233...113,785,312
Ensembl chr 9:113,782,284...113,787,340
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|
G |
NAV1 |
neuron navigator 1 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:23,885,721...24,104,748
Ensembl chr10:23,885,798...24,102,340
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|
G |
NFASC |
neurofascin |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:65,502,565...65,715,612
Ensembl chr 9:65,502,259...65,713,518
|
|
G |
NUAK2 |
NUAK family kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:65,980,035...66,001,665
Ensembl chr 9:65,980,041...66,001,764
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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 9:66,398,845...66,435,548
Ensembl chr 9:66,398,227...66,435,517
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G |
OPTC |
opticin |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:64,211,477...64,220,982
Ensembl chr 9:64,211,477...64,220,981
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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 chr10:23,824,181...23,827,428
Ensembl chr10:23,826,874...23,827,245
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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 9:65,073,728...65,154,861
Ensembl chr 9:65,073,738...65,154,538
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G |
PKP1 |
plakophilin 1 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:23,689,394...23,735,457
Ensembl chr10:23,689,380...23,735,453
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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 9:64,876,803...65,027,455
Ensembl chr 9:64,874,046...65,003,248
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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 9:66,522,015...66,550,511
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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 9:113,727,857...113,777,772
Ensembl chr 9:113,727,855...113,777,766
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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 chr10:24,463,900...24,637,361
Ensembl chr10:24,465,041...24,637,358
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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 9:65,056,495...65,069,083
Ensembl chr 9:65,056,398...65,066,775
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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 9:64,190,978...64,207,008
Ensembl chr 9:64,190,982...64,207,001
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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 chr10:24,325,289...24,336,426
Ensembl chr10:24,325,293...24,336,419
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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 9:66,448,854...66,458,766
Ensembl chr 9:66,448,953...66,458,724
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|
G |
RABIF |
RAB interacting factor |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:24,869,816...24,902,981
Ensembl chr10:24,869,829...24,900,266
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|
G |
RABIF |
RAB interacting factor |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:24,859,382...24,867,141
Ensembl chr10:24,859,385...24,867,141
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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 9:67,157,167...67,237,366
Ensembl chr 9:67,157,167...67,237,365
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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 9:65,783,725...65,821,681
Ensembl chr 9:65,783,736...65,821,650
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G |
REN |
renin |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:64,809,143...64,822,605
Ensembl chr 9:64,809,146...64,822,658
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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 9:66,736,563...66,759,659
Ensembl chr 9:66,745,910...66,759,393
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G |
RNPEP |
arginyl aminopeptidase |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:24,218,144...24,235,520
Ensembl chr10:24,218,139...24,235,518
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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 chr10:24,158,648...24,161,504
Ensembl chr10:24,158,688...24,162,063
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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 9:66,557,560...66,593,322
Ensembl chr 9:66,558,811...66,593,337
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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 9:66,473,369...66,500,367
Ensembl chr 9:66,473,341...66,499,805
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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 9:66,344,742...66,365,999
Ensembl chr 9:66,344,746...66,365,966
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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 9:64,560,544...64,567,007
Ensembl chr 9:64,560,523...64,567,007
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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 9:64,745,762...64,780,942
Ensembl chr 9:64,731,969...64,780,942
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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 9:66,838,062...67,117,315
Ensembl chr 9:66,838,123...67,117,315
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G |
SYT2 |
synaptotagmin 2 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:24,638,645...24,727,198
Ensembl chr10:24,638,704...24,669,846
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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 chr10:24,200,345...24,211,790
Ensembl chr10:24,200,368...24,211,786
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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 9:65,910,175...65,952,606
Ensembl chr 9:65,924,880...65,952,596
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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 9:113,713,046...113,726,645
Ensembl chr 9:113,713,032...113,725,847
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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 9:65,780,520...65,782,831
Ensembl chr 9:65,780,934...65,781,891
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G |
TMEM9 |
transmembrane protein 9 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:23,586,487...23,600,042
Ensembl chr10:23,586,491...23,607,530
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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 chr10:23,788,279...23,800,554
Ensembl chr10:23,788,279...23,804,119
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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 chr10:23,749,528...23,759,696
Ensembl chr10:23,749,335...23,763,396
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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 chr10:24,454,492...24,459,085
Ensembl chr10:24,454,495...24,459,057
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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 9:64,518,895...64,554,871
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G |
TNRC6A |
trinucleotide repeat containing adaptor 6A |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 6 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
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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 8:48,183,518...48,277,476
Ensembl chr 8:48,021,604...48,277,454
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G |
PDCD10 |
programmed cell death 10 |
|
ISO |
ClinVar Annotator: match by term: Encephalopathy, familial, with Collins bodies | ClinVar Annotator: match by term: Familial encephalopathy with neuroserpin inclusion bodies |
ClinVar |
PMID:15543491 PMID:18300272 PMID:23801932 PMID:25741868 PMID:28492532 |
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NCBI chr13:106,517,408...106,558,959
Ensembl chr13:106,517,432...106,558,895
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G |
SERPINB7 |
serpin family B member 7 |
|
ISO |
|
RGD |
PMID:16782060 |
RGD:7207386 |
NCBI chr 1:157,953,872...157,999,242
Ensembl chr 1:157,953,877...157,998,842
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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 chr13:106,559,326...106,636,930
Ensembl chr13:106,559,736...106,658,110
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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 chr 5:16,977,468...17,173,831
Ensembl chr 5:16,977,700...17,169,543
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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 chr13:122,234,731...122,249,889
Ensembl chr13:122,234,736...122,249,867
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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 chr16:61,656,583...61,723,428
Ensembl chr16:61,656,587...61,723,119
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G |
CHRNA7 |
cholinergic receptor nicotinic alpha 7 subunit |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7 |
ClinVar |
PMID:25326635 PMID:25741868 |
|
NCBI chr 1:142,803,697...142,937,124
Ensembl chr 1:142,803,701...142,937,123
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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 7:46,244,915...46,320,261
Ensembl chr 7:46,239,230...46,348,667
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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 chr15:71,717,330...71,824,190
Ensembl chr15:71,717,334...71,824,160
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G |
SDHA |
succinate dehydrogenase complex flavoprotein subunit A |
|
ISO |
ClinVar Annotator: match by term: Infantile polymyoclonus |
ClinVar |
PMID:22955521 PMID:22974104 PMID:24781757 PMID:25720320 PMID:25741868 PMID:28492532 PMID:29177515 PMID:29978154 PMID:30854332 PMID:30877234 PMID:31589614 PMID:31981491 PMID:32581362 PMID:33854214 More...
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NCBI chr16:79,838,442...79,862,956
Ensembl chr16:79,834,044...79,862,524
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G |
BRD2 |
bromodomain containing 2 |
|
ISO |
DNA:SNPs:promoter (human) |
RGD |
PMID:12830434 |
RGD:1358444 |
NCBI chr 7:25,096,579...25,162,591
Ensembl chr 7:25,150,564...25,162,584
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G |
CACNA1G |
calcium voltage-gated channel subunit alpha1 G |
|
ISO |
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy |
ClinVar |
|
|
NCBI chr12:26,838,633...26,912,344
Ensembl chr12:26,844,079...26,912,110
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G |
CACNB4 |
calcium voltage-gated channel auxiliary subunit beta 4 |
|
ISO |
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy |
ClinVar |
PMID:10762541 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr15:402,801...455,691
Ensembl chr15:186,434...459,856
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G |
CAPRIN1 |
cell cycle associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy |
ClinVar |
PMID:25741868 PMID:35979925 |
|
NCBI chr 2:26,830,987...26,875,425
Ensembl chr 2:26,830,267...26,875,357
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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 chr15:80,673,072...80,692,256
Ensembl chr15:80,673,067...80,692,208
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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 7:46,244,915...46,320,261
Ensembl chr 7:46,239,230...46,348,667
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G |
GABRA1 |
gamma-aminobutyric acid type A receptor subunit alpha1 |
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ISO |
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy |
ClinVar |
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NCBI chr16:61,656,583...61,723,428
Ensembl chr16:61,656,587...61,723,119
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G |
HSD17B3 |
hydroxysteroid 17-beta dehydrogenase 3 |
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ISO |
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy |
ClinVar |
PMID:27899157 PMID:28492532 PMID:33468338 PMID:35432193 PMID:36110220 PMID:37741351 More...
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NCBI chr10:25,822,913...25,866,871
Ensembl chr10:25,822,913...25,866,871
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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 4:1,476,298...1,493,597
Ensembl chr 4:1,490,800...1,492,356
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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 7:46,658,671...46,723,286
Ensembl chr 7:46,658,681...46,723,585
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G |
FBXO30 |
F-box protein 30 |
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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 1:19,806,363...19,893,350
Ensembl chr 1:19,806,765...19,893,339
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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 7:13,816,243...13,817,644
Ensembl chr 7:13,816,246...13,817,644
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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 7:13,821,656...13,846,107
Ensembl chr 7:13,820,866...13,846,012
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G |
IL1A |
interleukin 1 alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
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NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,121
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G |
LOC110258578 |
interleukin-1 beta-like |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
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G |
MT-ND5 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 |
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ISO |
ClinVar Annotator: match by term: MERRF syndrome |
ClinVar |
PMID:15767514 PMID:16816025 PMID:17400793 PMID:18332249 PMID:25741868 |
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NCBI chr MT:12,935...14,755
Ensembl chr MT:12,935...14,755
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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 chr 5:8,027,799...8,045,480
Ensembl chr 5:8,025,508...8,047,603
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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 chr13:66,526,508...66,897,125
Ensembl chr13:66,528,323...66,897,128
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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 chr13:66,315,438...66,324,641
Ensembl chr13:66,315,315...66,324,641
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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 chr 7:85,980,759...86,107,886
Ensembl chr 7:85,983,837...86,106,938
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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 chr14:11,193,732...11,204,334
Ensembl chr14:11,195,228...11,207,650
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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 chr13:206,706,060...206,710,598
Ensembl chr13:206,706,063...206,710,646
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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 chr13:66,241,951...66,308,601
Ensembl chr13:66,241,967...66,310,433
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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 chr13:66,309,350...66,312,965
Ensembl chr13:66,309,630...66,310,166
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G |
FBXO30 |
F-box protein 30 |
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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 1:19,806,363...19,893,350
Ensembl chr 1:19,806,765...19,893,339
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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 chr13:66,442,106...66,453,576
Ensembl chr13:66,445,992...66,452,917
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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 chr12:17,768,082...17,799,313
Ensembl chr12:17,768,111...17,789,315
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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 chr10:17,475,266...17,497,060
Ensembl chr10:17,477,902...17,497,030
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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 chr13:66,350,606...66,416,834
Ensembl chr13:66,350,606...66,416,827
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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 chr17:51,032,163...51,152,566
Ensembl chr17:51,039,987...51,142,644
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G |
LMNB2 |
lamin B2 |
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ISO |
ClinVar Annotator: match by term: Generalized myoclonic seizures |
ClinVar |
PMID:28492532 |
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NCBI chr 2:76,125,932...76,146,564
Ensembl chr 2:76,125,927...76,146,558
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G |
MT-ND6 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 |
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ISO |
DNA:missense mutation: :m.14487T>C (p.M63V) (human) |
RGD |
PMID:20019223 |
RGD:6482231 |
NCBI chr MT:14,739...15,266
Ensembl chr MT:14,739...15,266
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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 chr12:58,679,773...58,734,195
Ensembl chr12:58,679,775...58,707,925
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G |
POMC |
proopiomelanocortin |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:6088243 |
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NCBI chr 3:113,661,712...113,668,558
Ensembl chr 3:113,661,004...113,670,418
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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 chr13:45,620,372...45,968,295
Ensembl chr13:45,620,368...45,968,152
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G |
PRMT7 |
protein arginine methyltransferase 7 |
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ISO |
ClinVar Annotator: match by term: Generalized myoclonic seizures |
ClinVar |
PMID:25741868 PMID:33085104 |
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NCBI chr 6:28,883,148...28,945,904
Ensembl chr 6:28,883,646...28,945,905
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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 8:48,183,518...48,277,476
Ensembl chr 8:48,021,604...48,277,454
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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 4:20,143,614...20,570,780
Ensembl chr 4:20,143,883...20,570,768
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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 8:71,838,395...71,910,461
Ensembl chr 8:71,838,397...71,940,607
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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 chr15:72,529,866...72,696,715
Ensembl chr15:72,529,875...72,678,066
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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 chr13:66,483,620...66,524,411
Ensembl chr13:66,480,169...66,524,384
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G |
SEMA6B |
semaphorin 6B |
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ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy |
ClinVar |
PMID:25741868 |
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NCBI chr 2:74,262,303...74,296,386
Ensembl chr 2:74,258,439...74,296,385
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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 6:168,535,398...168,561,170
Ensembl chr 6:168,535,440...168,560,867
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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 chr13:67,156,786...67,199,092
Ensembl chr13:67,179,765...67,197,107
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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 chr13:66,998,113...67,115,918
Ensembl chr13:66,998,336...67,115,907
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G |
SLC7A6OS |
solute carrier family 7 member 6 opposite strand |
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ISO |
ClinVar Annotator: match by term: Generalized myoclonic seizures |
ClinVar |
PMID:25741868 PMID:33085104 |
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NCBI chr 6:28,874,220...28,883,572
Ensembl chr 6:28,872,665...28,883,548
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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 6:167,363,348...167,596,892
Ensembl chr 6:167,363,347...167,595,835
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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 1:268,116,124...268,205,805
Ensembl chr 1:268,116,120...268,205,778
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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 chr13:66,421,472...66,441,978
Ensembl chr13:66,422,345...66,441,980
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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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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 chr13:66,334,535...66,342,401
Ensembl chr13:66,334,591...66,342,654
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G |
FBXO30 |
F-box protein 30 |
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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 1:19,806,363...19,893,350
Ensembl chr 1:19,806,765...19,893,339
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G |
NHLRC1 |
NHL repeat containing E3 ubiquitin protein ligase 1 |
|
ISO |
ClinVar Annotator: match by term: Myoclonic epilepsy of Lafora 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 7:13,816,243...13,817,644
Ensembl chr 7:13,816,246...13,817,644
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G |
NHLRC1 |
NHL repeat containing E3 ubiquitin protein ligase 1 |
|
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 7:13,816,243...13,817,644
Ensembl chr 7:13,816,246...13,817,644
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G |
CCNF |
cyclin F |
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ISO |
ClinVar Annotator: match by term: Familial infantile myoclonic epilepsy |
ClinVar |
PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 PMID:26467025 PMID:27259978 PMID:27281533 PMID:28301460 PMID:28492532 PMID:28951997 PMID:29358611 More...
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NCBI chr 3:39,585,597...39,603,088
Ensembl chr 3:39,585,607...39,603,079
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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 8:41,402,334...41,492,306
Ensembl chr 8:41,402,043...41,493,734
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G |
OPA1 |
OPA1 mitochondrial dynamin like GTPase |
|
ISO |
ClinVar Annotator: match by term: Familial infantile myoclonic epilepsy |
ClinVar |
PMID:25326637 PMID:28492532 |
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NCBI chr13:130,624,771...130,718,345
Ensembl chr13:130,624,796...130,719,083
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G |
TBC1D24 |
TBC1 domain family member 24 |
|
ISO |
ClinVar Annotator: match by term: Familial infantile myoclonic epilepsy |
OMIM ClinVar |
PMID:10574461 PMID:10741954 PMID:18414213 PMID:20727515 PMID:20797691 PMID:22277662 PMID:23526554 PMID:24033266 PMID:24291220 PMID:24848745 PMID:25741868 PMID:25769375 PMID:26207815 PMID:26371875 PMID:26467025 PMID:26668325 PMID:27259978 PMID:27281533 PMID:27784474 PMID:28292732 PMID:28301460 PMID:28428906 PMID:28492532 PMID:28726039 PMID:28951997 PMID:29358611 PMID:29671961 PMID:30180405 PMID:30311386 PMID:30335140 PMID:30776697 PMID:31112829 PMID:31216405 PMID:32004315 PMID:33619735 More...
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NCBI chr 3:39,545,688...39,572,320
Ensembl chr 3:39,545,218...39,571,277
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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 chr13:66,075,926...66,093,986
Ensembl chr13:66,056,890...66,123,977
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ATP1A3 |
ATPase Na+/K+ transporting subunit alpha 3 |
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ISO |
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy |
ClinVar |
PMID:25741868 |
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NCBI chr 6:49,905,851...49,927,437
Ensembl chr 6:49,905,847...49,927,633
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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 chr13:66,526,508...66,897,125
Ensembl chr13:66,528,323...66,897,128
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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 chr13:66,315,438...66,324,641
Ensembl chr13:66,315,315...66,324,641
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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 chr13:66,021,047...66,037,446
Ensembl chr13:66,021,325...66,037,445
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CACNA1A |
calcium voltage-gated channel subunit alpha1 A |
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ISO |
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy |
ClinVar |
PMID:25735478 PMID:25741868 PMID:28492532 PMID:28566750 PMID:30142438 PMID:32910250 More...
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NCBI chr 2:65,491,784...65,871,068
Ensembl chr 2:65,514,509...65,871,182
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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 chr13:66,044,713...66,055,290
Ensembl chr13:66,044,720...66,055,295
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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:43,128,938...43,146,777
Ensembl chr X:43,134,275...43,146,775
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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 chr 7:85,980,759...86,107,886
Ensembl chr 7:85,983,837...86,106,938
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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 chr13:66,141,836...66,149,801
Ensembl chr13:66,141,839...66,149,703
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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 chr13:65,994,369...66,019,080
Ensembl chr13:65,995,534...66,019,077
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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 chr13:66,194,795...66,203,419
Ensembl chr13:66,194,865...66,203,412
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DNM1 |
dynamin 1 |
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ISO |
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RGD |
PMID:27363778 |
RGD:11557016 |
NCBI chr 1:268,653,045...268,702,233
Ensembl chr 1:268,653,070...268,702,222
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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 chr13:66,221,844...66,241,963
Ensembl chr13:66,217,970...66,241,935
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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 chr13:66,241,951...66,308,601
Ensembl chr13:66,241,967...66,310,433
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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 chr13:66,309,350...66,312,965
Ensembl chr13:66,309,630...66,310,166
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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 chr13:129,237,500...129,817,992
Ensembl chr13:129,240,083...129,817,911
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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:120,361,232...120,400,282
Ensembl chr X:120,361,367...120,399,831
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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 chr13:66,442,106...66,453,576
Ensembl chr13:66,445,992...66,452,917
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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 chr13:66,179,298...66,194,750
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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 chr13:66,164,492...66,177,967
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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:46,011,386...46,094,978
Ensembl chr X:46,011,388...46,094,817
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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 chr13:66,350,606...66,416,834
Ensembl chr13:66,350,606...66,416,827
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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 chr13:66,154,855...66,158,329
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LIMK1 |
LIM domain kinase 1 |
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ISO |
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy |
ClinVar |
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NCBI chr 3:11,252,820...11,279,286
Ensembl chr 3:11,252,648...11,279,284
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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 chr13:65,948,520...65,994,231
Ensembl chr13:65,948,544...65,994,820
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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 chr13:66,038,669...66,045,478
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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 chr14:108,038,396...108,303,942
Ensembl chr14:108,039,431...108,303,929
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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:43,147,473...43,150,350
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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 chr13:66,200,400...66,211,595
Ensembl chr13:66,200,797...66,211,449
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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 chr 7:64,140,977...64,372,683
Ensembl chr 7:64,141,014...64,372,694
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RBFOX1 |
RNA binding fox-1 homolog 1 |
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ISO |
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy |
ClinVar |
PMID:25741868 |
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NCBI chr 3:34,938,703...37,209,772
Ensembl chr 3:34,939,573...37,300,810
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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 chr13:66,126,126...66,133,774
Ensembl chr13:66,126,124...66,133,747
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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 chr15:72,529,866...72,696,715
Ensembl chr15:72,529,875...72,678,066
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SCN1B |
sodium voltage-gated channel beta subunit 1 |
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ISO |
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy |
ClinVar |
PMID:19710327 PMID:25741868 PMID:28218389 PMID:28492532 PMID:37845033 |
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NCBI chr 6:44,597,461...44,607,488
Ensembl chr 6:44,597,482...44,607,481
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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 chr15:71,864,753...71,999,219
Ensembl chr15:71,864,784...71,999,211
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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 chr 5:16,977,468...17,173,831
Ensembl chr 5:16,977,700...17,169,543
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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 chr13:66,483,620...66,524,411
Ensembl chr13:66,480,169...66,524,384
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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 chr12:50,679,900...50,710,985
Ensembl chr12:50,680,444...50,705,261
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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 chr13:67,156,786...67,199,092
Ensembl chr13:67,179,765...67,197,107
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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 chr13:66,998,113...67,115,918
Ensembl chr13:66,998,336...67,115,907
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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 9:66,838,062...67,117,315
Ensembl chr 9:66,838,123...67,117,315
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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 1:268,116,124...268,205,805
Ensembl chr 1:268,116,120...268,205,778
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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 chr13:66,067,623...66,080,170
Ensembl chr13:66,067,632...66,080,023
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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 chr13:66,421,472...66,441,978
Ensembl chr13:66,422,345...66,441,980
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TBC1D24 |
TBC1 domain family member 24 |
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ISO |
DNA:misense, nonsense mutations:cds:c.468C>A (C156X), c.686T>C(F229S)(human) |
RGD |
PMID:23526554 |
RGD:11537471 |
NCBI chr 3:39,545,688...39,572,320
Ensembl chr 3:39,545,218...39,571,277
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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 chr13:66,094,069...66,123,984
Ensembl chr13:66,056,890...66,123,977
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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 chr13:66,334,535...66,342,401
Ensembl chr13:66,334,591...66,342,654
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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:43,150,691...43,155,981
Ensembl chr X:43,147,477...43,156,234
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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 chr 5:22,813,617...22,851,976
Ensembl chr 5:22,816,854...22,851,973
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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 chr12:52,150,535...52,152,366
Ensembl chr12:52,150,448...52,152,204
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POMC |
proopiomelanocortin |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:1318289 |
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NCBI chr 3:113,661,712...113,668,558
Ensembl chr 3:113,661,004...113,670,418
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SCNN1B |
sodium channel epithelial 1 subunit beta |
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ISO |
ClinVar Annotator: match by term: Opsoclonus-myoclonus syndrome |
ClinVar |
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NCBI chr 3:22,832,259...22,902,592
Ensembl chr 3:22,832,262...22,902,063
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SDHA |
succinate dehydrogenase complex flavoprotein subunit A |
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ISO |
ClinVar Annotator: match by term: Opsoclonus-myoclonus syndrome |
ClinVar |
PMID:22955521 PMID:22974104 PMID:24781757 PMID:25720320 PMID:25741868 PMID:28492532 PMID:29177515 PMID:29978154 PMID:30854332 PMID:30877234 PMID:31589614 PMID:31981491 PMID:32581362 PMID:33854214 More...
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NCBI chr16:79,838,442...79,862,956
Ensembl chr16:79,834,044...79,862,524
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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 7:13,816,243...13,817,644
Ensembl chr 7:13,816,246...13,817,644
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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 chr13:205,561,897...205,628,428
Ensembl chr13:205,561,951...205,628,425
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ADARB1 |
adenosine deaminase RNA specific B1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr13:207,746,915...207,791,809
Ensembl chr13:207,691,174...207,791,802
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G |
AFG3L2 |
AFG3 like matrix AAA peptidase subunit 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25401298 |
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NCBI chr 6:97,200,890...97,234,577
Ensembl chr 6:97,200,922...97,235,366
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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 chr13:206,803,219...206,906,363
Ensembl chr13:206,884,538...206,906,353
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G |
AIRE |
autoimmune regulator |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr13:207,148,401...207,158,355
Ensembl chr13:207,148,401...207,158,346
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G |
ART3 |
ADP-ribosyltransferase 3 (inactive) |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
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NCBI chr 8:71,673,799...71,795,332
Ensembl chr 8:71,673,799...71,795,343
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G |
ATN1 |
atrophin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10814707 |
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NCBI chr 5:63,782,159...63,795,648
Ensembl chr 5:63,782,162...63,795,648
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G |
C2CD2 |
C2 calcium dependent domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr13:205,248,991...205,313,868
Ensembl chr13:205,246,716...205,313,717
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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 chr13:206,205,942...206,231,363
Ensembl chr13:206,205,946...206,230,248
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G |
CCDC158 |
coiled-coil domain containing 158 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
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NCBI chr 8:71,990,113...72,088,966
Ensembl chr 8:71,990,119...72,088,829
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G |
CDKL2 |
cyclin dependent kinase like 2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
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NCBI chr 8:71,231,148...71,260,902
Ensembl chr 8:71,231,152...71,260,815
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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 chr13:207,196,884...207,204,741
Ensembl chr13:207,196,117...207,204,719
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G |
CHD2 |
chromodomain helicase DNA binding protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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|
NCBI chr 7:85,980,759...86,107,886
Ensembl chr 7:85,983,837...86,106,938
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G |
CLN3 |
CLN3 lysosomal/endosomal transmembrane protein, battenin |
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ISO |
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:27843123 PMID:28041643 PMID:28492532 PMID:28542676 More...
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NCBI chr 3:18,433,564...18,450,296
Ensembl chr 3:18,433,836...18,450,290
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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 chr11:49,105,822...49,128,425
Ensembl chr11:49,105,878...49,129,886
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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 chr 1:166,107,895...166,126,054
Ensembl chr 1:166,107,228...166,126,808
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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 chr13:207,907,835...207,984,082
Ensembl chr13:207,940,948...207,982,938
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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 |
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G |
CRYAA |
crystallin alpha A |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr13:206,293,877...206,297,050
Ensembl chr13:206,293,849...206,297,015
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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 chr13:206,706,060...206,710,598
Ensembl chr13:206,706,063...206,710,646
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G |
CUNH21orf58 |
chromosome unknown C21orf58 homolog |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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G |
CXCL10 |
C-X-C motif chemokine ligand 10 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
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NCBI chr 8:71,693,641...71,695,948
Ensembl chr 8:71,693,339...71,695,948
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G |
CXCL11 |
C-X-C motif chemokine ligand 11 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
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NCBI chr 8:71,713,790...71,725,669
Ensembl chr 8:71,713,803...71,725,674
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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 8:71,665,541...71,670,236
Ensembl chr 8:71,663,501...71,670,271
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G |
DNAJC5 |
DnaJ heat shock protein family (Hsp40) member C5 |
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ISO |
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: PME | ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr17:62,754,630...62,780,470
Ensembl chr17:62,754,802...62,780,468
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G |
DNMT3L |
DNA methyltransferase 3 like |
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ISO |
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr13:207,119,025...207,141,990
Ensembl chr13:207,119,051...207,132,538
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G |
FAM47E |
family with sequence similarity 47 member E |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
|
NCBI chr 8:71,940,297...71,965,843
Ensembl chr 8:71,940,299...71,961,432
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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 |
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NCBI chr11:49,131,663...49,151,380
Ensembl chr11:49,131,665...49,151,009
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G |
FBXO30 |
F-box protein 30 |
|
ISO |
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 1:19,806,363...19,893,350
Ensembl chr 1:19,806,765...19,893,339
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G |
FTCD |
formimidoyltransferase cyclodeaminase |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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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 8:71,273,125...71,363,474
Ensembl chr 8:71,273,126...71,363,410
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G |
GATD3 |
glutamine amidotransferase class 1 domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr13:207,042,929...207,051,814
Ensembl chr13:207,042,952...207,056,770
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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 chr12:17,768,082...17,799,313
Ensembl chr12:17,768,111...17,789,315
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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 chr13:206,545,353...206,629,151
Ensembl chr13:206,545,354...206,629,156
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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 chr13:207,106,202...207,115,886
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G |
ITGB2 |
integrin subunit beta 2 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr13:207,514,281...207,544,108
Ensembl chr13:207,512,950...207,544,107
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G |
KCNC1 |
potassium voltage-gated channel subfamily C member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25401298 |
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NCBI chr 2:41,362,208...41,407,935
Ensembl chr 2:41,362,347...41,408,127
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G |
KCTD7 |
potassium channel tetramerization domain containing 7 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
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NCBI chr 3:16,382,333...16,393,861
Ensembl chr 3:16,385,006...16,393,841
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G |
LMNB2 |
lamin B2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 2:76,125,932...76,146,564
Ensembl chr 2:76,125,927...76,146,558
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G |
LOC100518807 |
keratin-associated protein 10-12 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr13:204,987,662...204,988,803
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G |
LOC100622826 |
keratin-associated protein 10-3-like |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr13:207,403,140...207,404,529
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G |
LOC100623720 |
collagen alpha-1(VI) chain |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr13:208,295,245...208,321,789
Ensembl chr13:208,295,451...208,313,127
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G |
LOC106508044 |
keratin-associated protein 12-1-like |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr13:207,393,361...207,394,154
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G |
LRRC3 |
leucine rich repeat containing 3 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr13:207,270,099...207,275,901
Ensembl chr13:207,271,416...207,272,189
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G |
LSS |
lanosterol synthase |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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G |
MCM3AP |
minichromosome maintenance complex component 3 associated protein |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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G |
MFSD8 |
major facilitator superfamily domain containing 8 |
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ISO |
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive |
ClinVar |
PMID:28492532 |
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NCBI chr 8:96,925,063...96,972,390
Ensembl chr 8:96,925,081...96,972,383
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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 8:71,573,783...71,603,256
Ensembl chr 8:71,573,788...71,603,338
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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 |
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NCBI chr13:206,111,337...206,123,987
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G |
NEU1 |
neuraminidase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25401298 |
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NCBI chr 7:23,953,721...23,958,659
Ensembl chr 7:23,953,499...23,958,638
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G |
NHLRC1 |
NHL repeat containing E3 ubiquitin protein ligase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25401298 |
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NCBI chr 7:13,816,243...13,817,644
Ensembl chr 7:13,816,246...13,817,644
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G |
NUP54 |
nucleoporin 54 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
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NCBI chr 8:71,792,153...71,833,180
Ensembl chr 8:71,792,155...71,833,157
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G |
ODAPH |
odontogenesis associated phosphoprotein |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
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NCBI chr 8:71,215,091...71,225,787
Ensembl chr 8:71,215,152...71,226,319
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G |
OPTN |
optineurin |
|
ISO |
protein:increased expression:neuron, nucleus |
RGD |
PMID:22318854 |
RGD:6480499 |
NCBI chr10:48,532,029...48,582,952
Ensembl chr10:48,530,843...48,582,860
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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 |
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NCBI chr13:208,060,949...208,259,368
Ensembl chr13:208,094,877...208,259,369
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G |
PCNT |
pericentrin |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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G |
PDE9A |
phosphodiesterase 9A |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr13:205,938,342...206,034,981
Ensembl chr13:205,938,348...206,034,976
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G |
PDXK |
pyridoxal kinase |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr13:206,676,905...206,699,047
Ensembl chr13:206,676,730...206,703,326
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G |
PFKL |
phosphofructokinase, liver type |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr13:207,167,287...207,191,688
Ensembl chr13:207,167,281...207,191,671
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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 chr13:206,159,264...206,195,471
Ensembl chr13:206,167,156...206,195,468
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G |
POFUT2 |
protein O-fucosyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr13:207,801,101...207,818,138
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G |
PPEF2 |
protein phosphatase with EF-hand domain 2 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
|
NCBI chr 8:71,519,873...71,555,977
Ensembl chr 8:71,519,274...71,573,563
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G |
PPT1 |
palmitoyl-protein thioesterase 1 |
|
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 6:95,840,906...95,860,858
Ensembl chr 6:95,840,908...95,860,858
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G |
PRDM15 |
PR/SET domain 15 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr13:205,174,356...205,241,562
Ensembl chr13:205,173,517...205,241,490
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G |
PRDM8 |
PR/SET domain 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 8:137,604,805...137,611,389
Ensembl chr 8:137,605,600...137,612,651
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G |
PRICKLE1 |
prickle planar cell polarity protein 1 |
|
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 chr 5:73,707,026...73,826,529
Ensembl chr 5:73,707,050...73,826,430
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|
G |
PRICKLE2 |
prickle planar cell polarity protein 2 |
|
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 chr13:45,620,372...45,968,295
Ensembl chr13:45,620,368...45,968,152
|
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G |
PRNP |
prion protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25401298 |
|
NCBI chr17:13,694,195...13,705,126
Ensembl chr17:13,694,190...13,705,124
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G |
PTTG1IP |
PTTG1 interacting protein |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr13:207,493,656...207,507,089
Ensembl chr13:207,493,659...207,499,867
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G |
PWP2 |
PWP2 small subunit processome component |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr13:207,015,047...207,031,752
Ensembl chr13:207,015,125...207,031,879
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G |
RIPK4 |
receptor interacting serine/threonine kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr13:205,127,239...205,153,000
Ensembl chr13:205,127,244...205,153,005
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G |
RRP1 |
ribosomal RNA processing 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr13:206,722,591...206,736,000
Ensembl chr13:206,722,596...206,735,997
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G |
RRP1B |
ribosomal RNA processing 1B |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr13:206,629,176...206,653,374
Ensembl chr13:206,629,204...206,651,123
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G |
RSPH1 |
radial spoke head component 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr13:205,808,923...205,827,098
Ensembl chr13:205,808,671...205,827,213
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G |
SACS |
sacsin molecular chaperone |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25401298 |
|
NCBI chr11:2,382,406...2,455,756
Ensembl chr11:2,382,906...2,442,316
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G |
SCARB2 |
scavenger receptor class B member 2 |
|
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 8:71,838,395...71,910,461
Ensembl chr 8:71,838,397...71,940,607
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G |
SDAD1 |
SDA1 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
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NCBI chr 8:71,612,591...71,646,852
Ensembl chr 8:71,613,174...71,646,779
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G |
SERPINI1 |
serpin family I member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25401298 |
|
NCBI chr13:106,559,326...106,636,930
Ensembl chr13:106,559,736...106,658,110
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G |
SHROOM3 |
shroom family member 3 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
|
NCBI chr 8:72,097,561...72,443,869
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G |
SIK1 |
salt inducible kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr13:206,454,695...206,465,802
Ensembl chr13:206,454,718...206,465,807
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G |
SLC19A1 |
solute carrier family 19 member 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr13:207,986,094...208,007,855
Ensembl chr13:207,986,098...208,007,675
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G |
SLC37A1 |
solute carrier family 37 member 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr13:205,826,948...205,901,824
Ensembl chr13:205,843,095...205,898,586
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G |
SLX9 |
SLX9 ribosome biogenesis factor |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr13:207,560,855...207,588,502
Ensembl chr13:207,560,990...207,588,501
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G |
SPATC1L |
spermatogenesis and centriole associated 1 like |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
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G |
STBD1 |
starch binding domain 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
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NCBI chr 8:71,982,987...71,987,880
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G |
SUMO3 |
small ubiquitin like modifier 3 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr13:207,475,303...207,484,362
Ensembl chr13:207,476,441...207,484,250
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G |
TBC1D24 |
TBC1 domain family member 24 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25401298 |
|
NCBI chr 3:39,545,688...39,572,320
Ensembl chr 3:39,545,218...39,571,277
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G |
TFF1 |
trefoil factor 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr13:205,687,558...205,691,512
Ensembl chr13:205,687,560...205,691,460
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G |
TFF2 |
trefoil factor 2 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr13:205,669,014...205,672,319
Ensembl chr13:205,669,014...205,672,324
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G |
TFF3 |
trefoil factor 3 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr13:205,641,038...205,644,333
Ensembl chr13:205,641,038...205,644,333
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G |
TMPRSS3 |
transmembrane serine protease 3 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr13:205,707,501...205,733,037
Ensembl chr13:205,709,663...205,732,824
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G |
TPP1 |
tripeptidyl peptidase 1 |
|
ISO |
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 9:3,135,580...3,143,408
Ensembl chr 9:3,135,642...3,143,404
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G |
TRAPPC10 |
trafficking protein particle complex subunit 10 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr13:206,936,311...207,013,112
Ensembl chr13:206,936,333...207,013,102
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G |
TRPM2 |
transient receptor potential cation channel subfamily M member 2 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr13:207,212,339...207,263,313
Ensembl chr13:207,212,457...207,262,064
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G |
TSC1 |
TSC complex subunit 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17484760 |
|
NCBI chr 1:272,636,530...272,685,948
Ensembl chr 1:272,636,532...272,685,951
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G |
TSPEAR |
thrombospondin type laminin G domain and EAR repeats |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr13:207,285,878...207,412,523
Ensembl chr13:207,285,886...207,412,511
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G |
U2AF1 |
U2 small nuclear RNA auxiliary factor 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr13:206,244,772...206,257,697
Ensembl chr13:206,244,773...206,257,702
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G |
UBASH3A |
ubiquitin associated and SH3 domain containing A |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr13:205,744,395...205,786,484
Ensembl chr13:205,744,393...205,787,056
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G |
UBE2G2 |
ubiquitin conjugating enzyme E2 G2 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr13:207,444,529...207,471,826
Ensembl chr13:207,444,533...207,471,796
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G |
UMODL1 |
uromodulin like 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr13:205,425,338...205,494,492
Ensembl chr13:205,425,454...205,491,629
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G |
USO1 |
USO1 vesicle transport factor |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
|
NCBI chr 8:71,363,627...71,451,258
Ensembl chr 8:71,363,614...71,452,939
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G |
WDR4 |
WD repeat domain 4 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr13:206,074,943...206,094,713
Ensembl chr13:206,074,945...206,094,297
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G |
WNT9B |
Wnt family member 9B |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:21549339 PMID:28492532 |
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NCBI chr12:17,709,046...17,733,434
Ensembl chr12:17,709,046...17,733,431
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G |
YBEY |
ybeY metalloendoribonuclease |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
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G |
ZBTB21 |
zinc finger and BTB domain containing 21 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr13:205,345,675...205,365,151
Ensembl chr13:205,349,805...205,353,008
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G |
ANTXR2 |
ANTXR cell adhesion molecule 2 |
|
ISO |
ClinVar Annotator: match by term: Early-onset Lafora body disease |
ClinVar |
PMID:28492532 |
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NCBI chr 8:137,728,849...137,878,336
Ensembl chr 8:137,618,616...137,878,333
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G |
PRDM8 |
PR/SET domain 8 |
|
ISO |
ClinVar Annotator: match by term: Early-onset Lafora body disease | ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 10 |
OMIM ClinVar |
PMID:22961547 PMID:25741868 PMID:28492532 |
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NCBI chr 8:137,604,805...137,611,389
Ensembl chr 8:137,605,600...137,612,651
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G |
SEMA6B |
semaphorin 6B |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 11 | ClinVar Annotator: match by term: SEMA6B-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:32169168 PMID:35604360 |
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NCBI chr 2:74,262,303...74,296,386
Ensembl chr 2:74,258,439...74,296,385
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G |
PRMT7 |
protein arginine methyltransferase 7 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 12 |
ClinVar |
PMID:25741868 PMID:33085104 |
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NCBI chr 6:28,883,148...28,945,904
Ensembl chr 6:28,883,646...28,945,905
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G |
SLC7A6OS |
solute carrier family 7 member 6 opposite strand |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 12 |
OMIM ClinVar |
PMID:25741868 PMID:33085104 |
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NCBI chr 6:28,874,220...28,883,572
Ensembl chr 6:28,872,665...28,883,548
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G |
CSTB |
cystatin B |
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ISO |
|
OMIM |
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NCBI chr13:206,706,060...206,710,598
Ensembl chr13:206,706,063...206,710,646
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G |
PRICKLE1 |
prickle planar cell polarity protein 1 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 1B | ClinVar Annotator: match by term: Progressive myoclonus epilepsy with ataxia |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:18414213 PMID:18976727 PMID:20301774 PMID:21276947 PMID:21901791 PMID:24689077 PMID:25741868 PMID:26378787 PMID:26467025 PMID:28106320 PMID:28492532 PMID:29358611 PMID:29790814 PMID:30564977 PMID:31035234 PMID:31875159 PMID:32214227 PMID:35040250 More...
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NCBI chr 5:73,707,026...73,826,529
Ensembl chr 5:73,707,050...73,826,430
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G |
TBC1D24 |
TBC1 domain family member 24 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 1B |
ClinVar |
PMID:25401298 PMID:25741868 PMID:27281533 PMID:28492532 PMID:30335140 |
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NCBI chr 3:39,545,688...39,572,320
Ensembl chr 3:39,545,218...39,571,277
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G |
CLN3 |
CLN3 lysosomal/endosomal transmembrane protein, battenin |
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ISO |
ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 14 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 3:18,433,564...18,450,296
Ensembl chr 3:18,433,836...18,450,290
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G |
KCTD7 |
potassium channel tetramerization domain containing 7 |
|
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 3:16,382,333...16,393,861
Ensembl chr 3:16,385,006...16,393,841
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G |
KCNH8 |
potassium voltage-gated channel subfamily H member 8 |
|
ISO |
ClinVar Annotator: match by term: Action myoclonus-renal failure syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr13:6,104,382...6,533,505
Ensembl chr13:6,104,537...6,532,592
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G |
RTEL1 |
regulator of telomere elongation helicase 1 |
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ISO |
ClinVar Annotator: match by term: Action myoclonus-renal failure syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:62,611,844...62,636,628
Ensembl chr17:62,611,909...62,634,690
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G |
SCARB2 |
scavenger receptor class B member 2 |
|
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 8:71,838,395...71,910,461
Ensembl chr 8:71,838,397...71,940,607
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G |
FANCI |
FA complementation group I |
|
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 chr 7:54,811,024...54,889,992
Ensembl chr 7:54,811,027...54,889,998
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G |
MSH6 |
mutS homolog 6 |
|
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 chr 3:92,792,590...92,814,154
Ensembl chr 3:92,785,664...92,814,238
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G |
POLG |
DNA polymerase gamma, catalytic subunit |
|
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 chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844
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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 chr13:45,620,372...45,968,295
Ensembl chr13:45,620,368...45,968,152
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TWNK |
twinkle mtDNA helicase |
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ISO |
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 |
ClinVar |
PMID:21689831 PMID:25741868 PMID:28492532 |
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NCBI chr14:112,068,463...112,076,169
Ensembl chr14:112,069,925...112,075,792
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GOSR2 |
golgi SNAP receptor complex member 2 |
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ISO |
ClinVar Annotator: match by term: GOSR2-related condition | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 6 |
OMIM ClinVar |
PMID:16199547 PMID:19057520 PMID:21549339 PMID:23449775 PMID:24458321 PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28982678 PMID:29855340 PMID:31440721 PMID:32032478 PMID:33639315 PMID:34167170 PMID:37895210 More...
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NCBI chr12:17,768,082...17,799,313
Ensembl chr12:17,768,111...17,789,315
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NDUFS2 |
NADH:ubiquinone oxidoreductase core subunit S2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 6 |
ClinVar |
PMID:22200994 PMID:25326637 PMID:25741868 PMID:28492532 |
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NCBI chr 4:89,246,958...89,257,090
Ensembl chr 4:89,246,960...89,257,085
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CSRP3 |
cysteine and glycine rich protein 3 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:40,219,288...40,240,614
Ensembl chr 2:40,215,353...40,240,616
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GTF2H1 |
general transcription factor IIH subunit 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:40,857,720...40,900,591
Ensembl chr 2:40,857,723...40,900,624
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HPS5 |
HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:40,906,785...40,938,847
Ensembl chr 2:40,906,806...40,941,944
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IGSF22 |
immunoglobulin superfamily member 22 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:40,524,004...40,544,231
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KCNC1 |
potassium voltage-gated channel subfamily C member 1 |
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ISO |
ClinVar Annotator: match by term: KCNC1-related condition | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25363768 PMID:25401298 PMID:25741868 PMID:26467025 PMID:27629860 PMID:28145425 PMID:28380698 PMID:28488083 PMID:28492532 PMID:28714951 PMID:29428275 PMID:29894724 PMID:31216804 PMID:31353855 PMID:31353862 PMID:31440721 PMID:32972906 PMID:33163565 PMID:33349918 PMID:33725338 PMID:33735526 PMID:34232791 PMID:35299674 PMID:36028527 PMID:36034301 More...
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NCBI chr 2:41,362,208...41,407,935
Ensembl chr 2:41,362,347...41,408,127
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LDHA |
lactate dehydrogenase A |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:40,814,163...40,827,284
Ensembl chr 2:40,814,169...40,826,715
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LDHC |
lactate dehydrogenase C |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:40,748,567...40,810,114
Ensembl chr 2:40,748,863...40,809,692
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MRGPRX2 |
MAS related GPR family member X2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:40,372,994...40,376,693
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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 chr 2:41,422,522...41,424,236
Ensembl chr 2:41,415,775...41,424,435
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OTOG |
otogelin |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:41,497,201...41,590,564
Ensembl chr 2:41,497,200...41,584,948
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PTPN5 |
protein tyrosine phosphatase non-receptor type 5 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:40,458,865...40,521,470
Ensembl chr 2:40,459,049...40,521,461
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SAA2 |
serum amyloid A-2 protein |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:40,972,797...40,976,222
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SAA4 |
serum amyloid A-4 protein |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:40,986,869...41,003,059
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SAAL1 |
serum amyloid A like 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:41,028,673...41,054,578
Ensembl chr 2:41,028,693...41,056,420
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SERGEF |
secretion regulating guanine nucleotide exchange factor |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:41,114,174...41,356,043
Ensembl chr 2:41,114,178...41,356,038
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SPTY2D1 |
SPT2 chromatin protein domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:40,581,816...40,604,040
Ensembl chr 2:40,582,984...40,604,038
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TMEM86A |
transmembrane protein 86A |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:40,545,773...40,550,838
Ensembl chr 2:40,545,776...40,550,843
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TPH1 |
tryptophan hydroxylase 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:41,075,623...41,109,005
Ensembl chr 2:41,075,628...41,109,437
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TSG101 |
tumor susceptibility 101 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:40,673,187...40,720,681
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UEVLD |
UEV and lactate/malate dehyrogenase domains |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:40,617,086...40,671,701
Ensembl chr 2:40,617,039...40,669,595
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USH1C |
USH1 protein network component harmonin |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:41,593,793...41,646,777
Ensembl chr 2:41,593,802...41,647,247
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ZDHHC13 |
zinc finger DHHC-type palmitoyltransferase 13 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:40,251,511...40,310,455
Ensembl chr 2:40,251,246...40,310,455
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ARMC6 |
armadillo repeat containing 6 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:58,808,691...58,828,483
Ensembl chr 2:58,808,692...58,828,489
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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 chr 2:58,684,508...58,696,586
Ensembl chr 2:58,684,543...58,698,173
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COMP |
cartilage oligomeric matrix protein |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:59,061,409...59,068,951
Ensembl chr 2:59,061,426...59,069,564
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COPE |
COPI coat complex subunit epsilon |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:58,930,929...58,948,466
Ensembl chr 2:58,930,931...58,948,469
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DDX49 |
DEAD-box helicase 49 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:58,922,985...58,930,710
Ensembl chr 2:58,922,988...58,930,716
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GDF1 |
growth differentiation factor 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19243074 PMID:24033266 PMID:24782409 PMID:25741868 PMID:28492532 PMID:30800706 More...
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NCBI chr 2:58,972,918...58,976,294
Ensembl chr 2:58,951,726...58,974,672
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HOMER3 |
homer scaffold protein 3 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:58,913,949...58,922,474
Ensembl chr 2:58,913,992...58,922,474
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MEF2B |
myocyte enhancer factor 2B |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:58,699,173...58,722,554
Ensembl chr 2:58,695,691...58,722,557
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NR2C2AP |
nuclear receptor 2C2 associated protein |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:58,675,987...58,678,025
Ensembl chr 2:58,675,990...58,678,130
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RFXANK |
regulatory factor X associated ankyrin containing protein |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:58,677,534...58,684,016
Ensembl chr 2:58,677,538...58,683,882
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SLC25A42 |
solute carrier family 25 member 42 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:58,753,363...58,803,356
Ensembl chr 2:58,753,371...58,801,832
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SUGP2 |
SURP and G-patch domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:58,828,009...58,865,859
Ensembl chr 2:58,828,251...58,865,852
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TMEM161A |
transmembrane protein 161A |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:58,728,738...58,744,939
Ensembl chr 2:58,728,813...58,744,937
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UPF1 |
UPF1 RNA helicase and ATPase |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:58,975,013...59,013,546
Ensembl chr 2:58,975,023...59,013,495
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ABHD17A |
abhydrolase domain containing 17A, depalmitoylase |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:76,658,073...76,666,561
Ensembl chr 2:76,658,068...76,666,552
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ADAMTSL5 |
ADAMTS like 5 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:76,966,155...76,975,555
Ensembl chr 2:76,966,766...76,975,820
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ADAT3 |
adenosine deaminase tRNA specific 3 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:76,628,626...76,634,282
Ensembl chr 2:76,628,633...76,634,262
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AMH |
anti-Mullerian hormone |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:76,415,564...76,418,315
Ensembl chr 2:76,414,427...76,418,312
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AP3D1 |
adaptor related protein complex 3 subunit delta 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:76,428,443...76,471,266
Ensembl chr 2:76,428,476...76,471,257
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APC2 |
APC regulator of WNT signaling pathway 2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:77,005,706...77,034,583
Ensembl chr 2:77,005,706...77,034,561
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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 chr 2:76,722,257...76,745,899
Ensembl chr 2:76,722,247...76,745,898
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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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NCBI chr 2:76,538,538...76,559,928
Ensembl chr 2:76,538,523...76,559,919
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C2H19orf25 |
chromosome 2 C19orf25 homolog |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:76,998,982...77,003,332
Ensembl chr 2:76,998,982...77,003,326
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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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NCBI chr 2:76,573,979...76,609,631
Ensembl chr 2:76,573,987...76,609,384
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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 chr 2:75,921,145...75,927,231
Ensembl chr 2:75,908,509...75,929,151
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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 chr 2:76,339,452...76,401,974
Ensembl chr 2:76,339,470...76,401,965
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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 chr 2:76,107,928...76,111,458
Ensembl chr 2:76,107,929...76,111,479
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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 chr 2:75,439,405...75,456,855
Ensembl chr 2:75,437,201...75,457,092
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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 chr 2:75,929,877...76,083,557
Ensembl chr 2:76,039,656...76,083,555
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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 chr 2:76,472,227...76,475,227
Ensembl chr 2:76,472,231...76,475,170
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JSRP1 |
junctional sarcoplasmic reticulum protein 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:76,418,508...76,422,405
Ensembl chr 2:76,418,320...76,422,263
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KLF16 |
KLF transcription factor 16 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:76,680,219...76,690,823
Ensembl chr 2:76,680,020...76,690,841
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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 chr 2:76,264,077...76,280,627
Ensembl chr 2:76,264,071...76,280,623
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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 chr 2:76,125,932...76,146,564
Ensembl chr 2:76,125,927...76,146,558
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LOC100516355 |
zinc finger protein 77 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:75,742,538...75,767,725
Ensembl chr 2:75,742,827...75,767,708
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LOC110259371 |
zinc finger protein 555-like |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:75,807,806...75,834,866
Ensembl chr 2:75,811,392...75,830,466
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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 chr 2:76,247,010...76,251,824
Ensembl chr 2:76,247,058...76,252,598
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G |
MBD3 |
methyl-CpG binding domain protein 3 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:76,913,880...76,923,435
Ensembl chr 2:76,906,644...76,923,432
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MEX3D |
mex-3 RNA binding family member D |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:76,929,583...76,938,238
Ensembl chr 2:76,929,619...76,938,367
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MKNK2 |
MAPK interacting serine/threonine kinase 2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:76,510,302...76,522,885
Ensembl chr 2:76,510,303...76,522,883
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MOB3A |
MOB kinase activator 3A |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:76,475,397...76,495,015
Ensembl chr 2:76,475,530...76,496,060
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G |
OAZ1 |
ornithine decarboxylase antizyme 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:76,293,142...76,296,626
Ensembl chr 2:76,293,150...76,296,620
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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 chr 2:76,751,070...76,769,812
Ensembl chr 2:76,750,069...76,769,812
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PCSK4 |
proprotein convertase subtilisin/kexin type 4 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:76,982,806...76,996,507
Ensembl chr 2:76,989,544...76,997,766
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PEAK3 |
PEAK family member 3 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:76,285,163...76,291,295
Ensembl chr 2:76,285,882...76,291,290
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PLEKHJ1 |
pleckstrin homology domain containing J1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:76,402,453...76,405,170
Ensembl chr 2:76,402,460...76,405,170
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PLK5 |
polo like kinase 5 (inactive) |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:76,948,062...76,956,310
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REEP6 |
receptor accessory protein 6 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:76,983,431...76,989,017
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REXO1 |
RNA exonuclease 1 homolog |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:76,694,269...76,719,026
Ensembl chr 2:76,693,796...76,718,394
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SCAMP4 |
secretory carrier membrane protein 4 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:76,614,984...76,634,314
Ensembl chr 2:76,615,000...76,634,264
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SF3A2 |
splicing factor 3a subunit 2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:76,404,882...76,414,901
Ensembl chr 2:76,410,602...76,415,776
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SGTA |
small glutamine rich tetratricopeptide repeat co-chaperone alpha |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:75,879,081...75,896,279
Ensembl chr 2:75,879,058...75,896,277
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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 chr 2:75,908,451...75,916,877
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SPPL2B |
signal peptide peptidase like 2B |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:76,230,060...76,247,067
Ensembl chr 2:76,230,061...76,247,051
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G |
TCF3 |
transcription factor 3 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:76,859,079...76,906,275
Ensembl chr 2:76,859,089...76,898,351
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THOP1 |
thimet oligopeptidase 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:75,857,788...75,877,430
Ensembl chr 2:75,853,429...75,877,494
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TIMM13 |
translocase of inner mitochondrial membrane 13 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:76,146,946...76,148,163
Ensembl chr 2:76,146,867...76,155,729
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TLE2 |
TLE family member 2, transcriptional corepressor |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:75,510,276...75,536,812
Ensembl chr 2:75,510,004...75,536,804
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TLE5 |
TLE family member 5, transcriptional modulator |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:75,492,208...75,501,543
Ensembl chr 2:75,492,233...75,501,542
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TLE6 |
TLE family member 6, subcortical maternal complex member |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:75,537,641...75,550,676
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TMPRSS9 |
transmembrane serine protease 9 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:76,158,059...76,228,444
Ensembl chr 2:76,158,045...76,224,446
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UQCR11 |
ubiquinol-cytochrome c reductase, complex III subunit XI |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:76,903,219...76,906,276
Ensembl chr 2:76,903,281...76,909,544
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G |
ZNF554 |
zinc finger protein 554 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:75,834,873...75,857,601
Ensembl chr 2:75,834,575...75,851,199
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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 chr17:5,712,048...5,749,811
Ensembl chr17:5,712,058...5,758,821
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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 chr13:206,706,060...206,710,598
Ensembl chr13:206,706,063...206,710,646
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