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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:121,866,721...121,876,088
Ensembl chr X:121,873,218...121,932,994
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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 chr36:10,472,496...10,605,055
Ensembl chr36:10,472,361...10,602,685
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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 chr27:3,174,257...3,348,349
Ensembl chr27:3,176,013...3,296,482
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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 6:38,531,547...38,557,472
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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 chr12:1,453,227...1,510,171
Ensembl chr12:1,453,260...1,509,749
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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 chr27:38,104,683...38,118,957
Ensembl chr27:38,104,842...38,111,462
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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 chr18:45,168,244...45,174,085
Ensembl chr18:45,168,245...45,173,107
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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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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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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 chr17:60,553,423...60,578,804
Ensembl chr17:60,559,116...60,578,705
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G |
GABRG2 |
gamma-aminobutyric acid type A receptor subunit gamma2 |
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ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
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NCBI chr 4:48,794,770...48,901,859
Ensembl chr 4:48,796,852...48,901,548
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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 chr17:60,222,628...60,230,967
Ensembl chr17:60,223,347...60,230,821
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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 chr17:60,359,545...60,386,093
Ensembl chr17:60,360,236...60,384,778
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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 chr17:60,257,017...60,295,866
Ensembl chr17:60,257,332...60,295,866
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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 chr17:60,464,609...60,511,735
Ensembl chr17:60,465,230...60,511,934
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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 chr17:60,461,208...60,463,604
Ensembl chr17:60,461,240...60,463,594
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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 chr17:60,306,134...60,313,610
Ensembl chr17:60,306,229...60,313,610
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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 chr17:60,393,773...60,400,150
Ensembl chr17:60,395,321...60,400,009
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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 OF INFANCY | ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy 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:15880351 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:24422737 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:26934580 PMID:26986070 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:32276107 PMID:32347949 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:33156843 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:34816733 PMID:34917021 PMID:35002916 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:38891831 PMID:39033378 More...
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NCBI chr36:11,105,936...11,245,978
Ensembl chr36:11,108,050...11,183,496
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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 1:117,504,428...117,510,666
Ensembl chr 1:117,503,828...117,511,727
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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 chr36:10,472,496...10,605,055
Ensembl chr36:10,472,361...10,602,685
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G |
SCN9A |
sodium voltage-gated channel alpha subunit 9 |
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ISO |
ClinVar Annotator: match by term: SEVERE MYOCLONIC EPILEPSY OF INFANCY | 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:28590052 PMID:29264398 PMID:29911575 PMID:29934995 PMID:30316835 PMID:30672368 PMID:32719824 PMID:33087732 PMID:33487118 PMID:37003485 PMID:37079850 PMID:37557164 PMID:38394191 More...
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NCBI chr36:11,287,358...11,382,897
Ensembl chr36:11,290,625...11,383,255
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G |
SCNM1 |
sodium channel modifier 1 |
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ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
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NCBI chr17:60,231,034...60,233,349
Ensembl chr17:60,231,104...60,233,337
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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 chr17:60,410,727...60,418,770
Ensembl chr17:60,410,734...60,418,704
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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 Annotator: match by term: SEVERE MYOCLONIC EPILEPSY OF INFANCY | 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 chr17:60,653,719...60,727,928
Ensembl chr17:60,653,732...60,724,253
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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 chr17:60,234,061...60,238,950
Ensembl chr17:60,234,096...60,238,864
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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 chr17:60,219,239...60,222,818
Ensembl chr17:60,221,592...60,222,146
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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 chr17:60,580,032...60,628,422
Ensembl chr17:60,580,082...60,627,174
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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 chr17:60,239,299...60,252,323
Ensembl chr17:60,239,395...60,252,280
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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 chr17:60,350,753...60,359,542
Ensembl chr17:60,353,847...60,359,619
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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 6:38,572,883...38,592,465
Ensembl chr 6:38,574,234...38,592,435
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G |
DIRAS1 |
DIRAS family GTPase 1 |
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IAGP |
Epilepsy, generalized myoclonic, with photosensitivity |
OMIA |
PMID:28223533 PMID:29194766 PMID:38003185 |
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NCBI chr20:56,469,283...56,477,314
Ensembl chr20:56,474,105...56,474,701
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G |
EGR2 |
early growth response 2 |
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ISO |
ClinVar Annotator: match by term: Early myoclonic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 4:14,705,384...14,810,130
Ensembl chr 4:14,706,600...14,709,497
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G |
JMJD1C |
jumonji domain containing 1C |
|
ISO |
ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22495311 PMID:25741868 PMID:26181491 PMID:28166811 PMID:28492532 PMID:31785789 PMID:31954878 More...
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NCBI chr 4:15,006,670...15,261,139
Ensembl chr 4:15,007,508...15,261,691
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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 chr14:58,441,274...58,915,512
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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 chr13:47,108,442...47,190,935
Ensembl chr13:47,108,504...47,190,029
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G |
LOC610636 |
tubulin alpha-1B chain |
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ISO |
ClinVar Annotator: match by term: Early myoclonic encephalopathy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30744660 PMID:31833200 |
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NCBI chr37:25,811,491...25,818,838
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G |
NRBF2 |
nuclear receptor binding factor 2 |
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ISO |
ClinVar Annotator: match by term: Early myoclonic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 4:14,958,142...14,991,146
Ensembl chr 4:14,958,226...14,990,325
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G |
NUBPL |
NUBP iron-sulfur cluster assembly factor, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile |
ClinVar |
PMID:20818383 PMID:22072591 PMID:23553477 PMID:23828044 PMID:25326637 PMID:25741868 PMID:28492532 PMID:29982452 PMID:32518176 More...
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NCBI chr 8:10,796,462...11,026,804
Ensembl chr 8:10,796,459...11,090,920
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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:15880351 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:24422737 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:26934580 PMID:26986070 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:32276107 PMID:32347949 PMID:32461654 PMID:32538476 PMID:32573669 PMID:32581296 PMID:32581362 PMID:32593896 PMID:32613771 PMID:32702657 PMID:32845893 PMID:33067208 PMID:33084218 PMID:33156843 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:34816733 PMID:35002916 PMID:35072530 PMID:35074891 PMID:35087721 PMID:35571373 PMID:35627257 PMID:35663268 PMID:36158059 PMID:36287100 PMID:36684540 PMID:37524782 PMID:38891831 PMID:39033378 More...
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NCBI chr36:11,105,936...11,245,978
Ensembl chr36:11,108,050...11,183,496
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G |
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:28590052 PMID:29264398 PMID:29911575 PMID:29934995 PMID:30316835 PMID:30672368 PMID:32719824 PMID:33087732 PMID:33487118 PMID:37003485 PMID:37079850 PMID:37557164 PMID:38394191 More...
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NCBI chr36:11,287,358...11,382,897
Ensembl chr36:11,290,625...11,383,255
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G |
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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SNX27 |
sorting nexin 27 |
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ISO |
ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:60,653,719...60,727,928
Ensembl chr17:60,653,732...60,724,253
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G |
TBC1D24 |
TBC1 domain family member 24 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile ClinVar 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 6:38,531,547...38,557,472
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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 chr14:58,941,658...59,005,507
Ensembl chr14:58,941,551...59,005,463
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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 chr13:17,525,855...17,897,153
Ensembl chr13:17,528,421...17,897,009
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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 chr17:34,615,121...34,618,480
Ensembl chr17:34,615,096...34,656,791
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G |
STARD7 |
StAR related lipid transfer domain containing 7 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 2 |
OMIM ClinVar |
PMID:25741868 |
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NCBI chr17:34,534,036...34,562,733
Ensembl chr17:34,534,529...34,554,994
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G |
MARCHF6 |
membrane associated ring-CH-type finger 6 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 3 |
OMIM ClinVar |
PMID:25741868 |
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NCBI chr34:3,880,988...3,947,127
Ensembl chr34:3,884,487...3,943,035
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G |
YEATS2 |
YEATS domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 4 | ClinVar Annotator: match by term: YEATS2-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr34:16,654,672...16,777,493
Ensembl chr34:16,654,493...16,777,506
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G |
ADIPOR1 |
adiponectin receptor 1 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:240,035...254,287
Ensembl chr 7:240,065...282,845
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G |
ADORA1 |
adenosine A1 receptor |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:44,819...74,217
Ensembl chr 7:44,820...73,051
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ARL8A |
ARF like GTPase 8A |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:875,679...877,184
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G |
ASCL5 |
achaete-scute family bHLH transcription factor 5 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:2,106,480...2,107,046
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G |
ATP2B4 |
ATPase plasma membrane Ca2+ transporting 4 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr38:321,246...420,262
Ensembl chr38:366,656...416,952
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G |
AVPR1B |
arginine vasopressin receptor 1B |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr38:2,440,574...2,446,037
Ensembl chr38:2,440,615...2,446,037
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G |
BTG2 |
BTG anti-proliferation factor 2 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr38:70,921...75,149
Ensembl chr38:70,452...72,976
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G |
CACNA1S |
calcium voltage-gated channel subunit alpha1 S |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:2,108,716...2,172,246
Ensembl chr 7:2,108,455...2,303,220
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G |
CAMSAP2 |
calmodulin regulated spectrin associated protein family member 2 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:2,317,986...2,432,421
Ensembl chr 7:2,320,220...2,432,603
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G |
CDK18 |
cyclin dependent kinase 18 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr38:1,978,128...2,005,319
Ensembl chr38:1,990,061...2,002,321
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G |
CHI3L1 |
chitinase 3 like 1 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:25,620...32,954
Ensembl chr 7:26,316...33,427
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G |
CNTN2 |
contactin 2 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
OMIM ClinVar |
PMID:9536098 PMID:11178983 PMID:16199547 PMID:17576681 PMID:23518707 PMID:25741868 PMID:28492532 PMID:34691156 PMID:37359369 More...
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NCBI chr38:1,570,598...1,600,524
Ensembl chr38:1,576,898...1,596,621
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G |
CSRP1 |
cysteine and glycine rich protein 1 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:1,400,650...1,421,918
Ensembl chr 7:1,397,912...1,421,007
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G |
CTSE |
cathepsin E |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr38:2,368,711...2,380,554
Ensembl chr38:2,369,265...2,380,459
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G |
CYB5R1 |
cytochrome b5 reductase 1 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:232,280...237,496
Ensembl chr 7:232,098...237,031
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G |
DDX59 |
DEAD-box helicase 59 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:2,448,991...2,530,076
Ensembl chr 7:2,501,195...2,530,069
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G |
DSTYK |
dual serine/threonine and tyrosine protein kinase |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr38:1,669,721...1,716,407
Ensembl chr38:1,669,726...1,716,254
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G |
DYRK3 |
dual specificity tyrosine phosphorylation regulated kinase 3 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:5,816,839...5,826,194
Ensembl chr 7:5,814,201...5,902,220
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G |
EIF2D |
eukaryotic translation initiation factor 2D |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr38:2,851,972...2,871,574
Ensembl chr38:2,851,978...2,871,518
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G |
ELF3 |
E74 like ETS transcription factor 3 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:959,408...965,533
Ensembl chr 7:859,585...963,788
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G |
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 chr38:2,069,829...2,085,381
Ensembl chr38:2,078,008...2,125,069
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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 chr38:722,479...740,404
Ensembl chr38:725,200...736,851
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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 chr38:2,495,180...2,505,313
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G |
FMOD |
fibromodulin |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr38:102,106...112,267
Ensembl chr38:103,230...112,154
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G |
GOLT1A |
golgi transport 1A |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr38:774,454...790,899
Ensembl chr38:774,454...789,655
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G |
GPR25 |
G protein-coupled receptor 25 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:2,303,398...2,305,999
Ensembl chr 7:2,304,913...2,305,986
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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 chr 7:882,672...887,679
Ensembl chr 7:883,279...887,811
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G |
IGFN1 |
immunoglobulin like and fibronectin type III domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:1,462,093...1,490,330
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G |
IKBKE |
inhibitor of nuclear factor kappa B kinase subunit epsilon |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr38:2,747,303...2,772,574
Ensembl chr38:2,747,297...2,772,587
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G |
IL10 |
interleukin 10 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
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G |
INAVA |
innate immunity activator |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:2,264,120...2,284,196
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G |
IPO9 |
importin 9 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:1,076,628...1,131,579
Ensembl chr 7:1,077,212...1,109,988
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G |
KDM5B |
lysine demethylase 5B |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:336,452...415,568
Ensembl chr 7:330,705...412,386
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G |
KIF14 |
kinesin family member 14 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:2,548,407...2,602,371
Ensembl chr 7:2,548,258...2,601,581
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G |
KIF21B |
kinesin family member 21B |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:2,185,040...2,231,046
Ensembl chr 7:2,184,733...2,231,058
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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 chr38:768,333...774,328
Ensembl chr38:768,585...773,382
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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 chr38:1,832,201...1,839,117
Ensembl chr38:1,833,591...1,839,399
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G |
KLHL12 |
kelch like family member 12 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:256,814...284,132
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G |
LAD1 |
ladinin 1 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:1,623,839...1,639,314
Ensembl chr 7:1,624,056...1,641,104
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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 chr38:429,062...438,069
Ensembl chr38:429,528...436,696
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G |
LEMD1 |
LEM domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr38:1,872,196...1,898,493
Ensembl chr38:1,872,473...1,898,389
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G |
LGR6 |
leucine rich repeat containing G protein-coupled receptor 6 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:731,934...837,092
Ensembl chr 7:731,931...834,893
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G |
LMOD1 |
leiomodin 1 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:1,025,022...1,059,254
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G |
LRRN2 |
leucine rich repeat neuronal 2 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr38:1,163,974...1,218,069
Ensembl chr38:1,164,664...1,166,802
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G |
MAPKAPK2 |
MAPK activated protein kinase 2 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:5,873,088...5,903,484
Ensembl chr 7:5,814,201...5,902,220
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G |
MDM4 |
MDM4 regulator of p53 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr38:1,055,978...1,122,348
Ensembl chr38:1,056,109...1,107,166
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G |
MFSD4A |
major facilitator superfamily domain containing 4A |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr38:2,037,365...2,066,822
Ensembl chr38:2,037,026...2,064,696
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G |
MYBPH |
myosin binding protein H |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:34,181...44,479
Ensembl chr 7:36,428...43,803
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G |
MYOG |
myogenin |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:112,116...114,604
Ensembl chr 7:112,034...113,892
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G |
NAV1 |
neuron navigator 1 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:1,134,208...1,305,204
Ensembl chr 7:1,140,824...1,304,213
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G |
NFASC |
neurofascin |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr38:1,367,128...1,546,909
Ensembl chr38:1,366,251...1,543,630
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G |
NUAK2 |
NUAK family kinase 2 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr38:1,797,899...1,816,087
Ensembl chr38:1,798,802...1,816,185
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G |
NUCKS1 |
nuclear casein kinase and cyclin dependent kinase substrate 1 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr38:2,157,109...2,188,543
Ensembl chr38:2,160,233...2,170,560
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G |
OPTC |
opticin |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr38:215,404...223,247
Ensembl chr38:215,404...223,247
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G |
PHLDA3 |
pleckstrin homology like domain family A member 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 7:1,438,539...1,440,701
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G |
PIK3C2B |
phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr38:974,248...1,016,226
Ensembl chr38:975,749...1,027,679
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G |
PKP1 |
plakophilin 1 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:1,921,143...1,966,910
Ensembl chr 7:1,921,143...1,967,703
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G |
PLEKHA6 |
pleckstrin homology domain containing A6 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr38:795,368...851,823
Ensembl chr38:799,918...838,835
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G |
PM20D1 |
peptidase M20 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr38:2,247,645...2,270,286
Ensembl chr38:2,250,272...2,270,653
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G |
PPFIA4 |
PTPRF interacting protein alpha 4 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:118,795...164,937
Ensembl chr 7:120,908...164,964
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G |
PPP1R12B |
protein phosphatase 1 regulatory subunit 12B |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:512,692...713,848
Ensembl chr 7:512,575...713,709
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G |
PPP1R15B |
protein phosphatase 1 regulatory subunit 15B |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr38:957,320...965,683
Ensembl chr38:959,721...965,933
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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 |
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NCBI chr38:198,681...212,320
Ensembl chr38:198,583...209,937
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G |
PTPN7 |
protein tyrosine phosphatase non-receptor type 7 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:859,124...869,168
Ensembl chr 7:859,214...869,183
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G |
RAB29 |
RAB29, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr38:2,196,618...2,204,150
Ensembl chr38:2,198,040...2,203,896
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G |
RABIF |
RAB interacting factor |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:286,660...295,383
Ensembl chr 7:286,672...293,750
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G |
RASSF5 |
Ras association domain family member 5 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr38:2,783,049...2,849,188
Ensembl chr38:2,783,122...2,847,909
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G |
RBBP5 |
RB binding protein 5, histone lysine methyltransferase complex subunit |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr38:1,606,751...1,646,444
Ensembl chr38:1,608,314...1,646,094
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G |
REN |
renin |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr38:744,540...766,998
Ensembl chr38:744,614...755,012
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G |
RHEX |
regulator of hemoglobinization and erythroid cell expansion |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr38:2,416,825...2,434,203
Ensembl chr38:2,416,749...2,433,831
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G |
RNPEP |
arginyl aminopeptidase |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:966,563...985,169
Ensembl chr 7:966,607...984,714
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G |
SHISA4 |
shisa family member 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 7:1,064,833...1,066,591
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G |
SLC26A9 |
solute carrier family 26 member 9 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr38:2,267,404...2,303,997
Ensembl chr38:2,276,065...2,304,066
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G |
SLC41A1 |
solute carrier family 41 member 1 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr38:2,216,378...2,239,303
Ensembl chr38:2,218,706...2,236,672
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G |
SLC45A3 |
solute carrier family 45 member 3 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr38:2,110,209...2,130,233
Ensembl chr38:2,078,008...2,125,069
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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 |
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NCBI chr38:515,808...521,536
Ensembl chr38:515,860...521,535
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G |
SOX13 |
SRY-box transcription factor 13 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr38:702,974...721,340
Ensembl chr38:523,481...720,195
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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 chr38:2,506,617...2,741,866
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G |
SYT2 |
synaptotagmin 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 7:497,387...509,338
Ensembl chr 7:497,394...502,952
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G |
TIMM17A |
translocase of inner mitochondrial membrane 17A |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:1,002,710...1,015,803
Ensembl chr 7:1,003,236...1,015,694
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G |
TMCC2 |
transmembrane and coiled-coil domain family 2 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr38:1,733,826...1,775,072
Ensembl chr38:1,734,051...1,773,817
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G |
TMEM183A |
transmembrane protein 183A |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:166,640...180,680
Ensembl chr 7:166,974...180,660
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G |
TMEM81 |
transmembrane protein 81 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr38:1,604,068...1,606,594
Ensembl chr38:1,604,288...1,605,254
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G |
TMEM9 |
transmembrane protein 9 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:2,069,017...2,087,961
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G |
TNNI1 |
troponin I1, slow skeletal type |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:1,647,138...1,658,648
Ensembl chr 7:1,647,377...1,658,724
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G |
TNNT2 |
troponin T2, cardiac type |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:1,598,306...1,620,531
Ensembl chr 7:1,598,306...1,613,741
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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 |
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NCBI chr 7:719,128...726,128
Ensembl chr 7:719,116...725,898
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G |
ZBED6 |
zinc finger BED-type containing 6 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr38:461,394...467,894
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G |
ZC3H11A |
zinc finger CCCH-type containing 11A |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr38:477,900...505,754
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G |
TNRC6A |
trinucleotide repeat containing adaptor 6A |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 6 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:21,247,492...21,454,424
Ensembl chr 6:21,248,948...21,420,719
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G |
RAPGEF2 |
Rap guanine nucleotide exchange factor 2 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 7 |
OMIM ClinVar |
PMID:25741868 |
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NCBI chr15:56,133,094...56,353,609
Ensembl chr15:56,174,578...56,352,569
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G |
PDCD10 |
programmed cell death 10 |
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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 chr34:32,512,109...32,553,524
Ensembl chr34:32,512,112...32,553,445
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G |
SERPINB7 |
serpin family B member 7 |
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ISO |
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RGD |
PMID:16782060 |
RGD:7207386 |
NCBI chr 1:13,336,067...13,392,674
Ensembl chr 1:13,336,837...13,358,125
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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 PMID:33006056 More...
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NCBI chr34:32,553,876...32,624,708
Ensembl chr34:32,553,902...32,624,526
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G |
SCN8A |
sodium voltage-gated channel alpha subunit 8 |
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ISO |
ClinVar Annotator: match by term: Myoclonus, familial, 2 |
OMIM ClinVar |
PMID:24888894 PMID:25568300 PMID:25741868 PMID:25951352 PMID:26029160 PMID:26467025 PMID:26647175 PMID:26900580 PMID:27779742 PMID:27875746 PMID:28387369 PMID:28492532 PMID:29726066 PMID:30951195 PMID:31715021 More...
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NCBI chr27:3,174,257...3,348,349
Ensembl chr27:3,176,013...3,296,482
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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 |
OMIM ClinVar |
PMID:1521363 PMID:9536098 PMID:12612585 PMID:15252188 PMID:15505175 PMID:16199547 PMID:16932951 PMID:17567819 PMID:17576681 PMID:17762171 PMID:19191339 PMID:19200853 PMID:19710712 PMID:19861545 PMID:21703448 PMID:23542698 PMID:23632988 PMID:23707145 PMID:25741868 PMID:25907736 PMID:26539602 PMID:28337550 PMID:28488083 PMID:28492532 PMID:29403011 PMID:29403012 PMID:31069529 PMID:31291907 PMID:31589614 PMID:32906206 PMID:36435927 More...
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NCBI chr34:17,224,136...17,238,755
Ensembl chr34:17,223,215...17,239,621
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G |
GABRA1 |
gamma-aminobutyric acid type A receptor subunit alpha1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 | ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 13 |
ClinVar OMIM |
PMID:11992121 PMID:16530959 PMID:16569738 PMID:18414213 PMID:18534981 PMID:20551311 PMID:21714819 PMID:24623842 PMID:25741868 PMID:26467025 PMID:26918889 PMID:27353043 PMID:27521439 PMID:28251550 PMID:28492532 PMID:28837158 PMID:29655203 PMID:32238909 More...
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NCBI chr 4:49,006,981...49,065,205
Ensembl chr 4:49,009,495...49,062,581
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G |
CHRNA7 |
cholinergic receptor nicotinic alpha 7 subunit |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7 |
ClinVar |
PMID:25326635 PMID:25741868 |
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NCBI chr 3:36,852,082...37,164,930
Ensembl chr 3:36,852,543...36,978,399
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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 chr12:20,068,287...20,131,621
Ensembl chr12:20,067,881...20,131,619
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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 chr36:10,300,091...10,405,361
Ensembl chr36:10,302,191...10,377,923
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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:26467025 PMID:28492532 PMID:29177515 PMID:29978154 PMID:30854332 PMID:30877234 PMID:31589614 PMID:31981491 PMID:32581362 PMID:33854214 PMID:36010880 More...
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NCBI chr34:11,935,684...11,965,094
Ensembl chr34:11,935,941...11,965,189
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G |
BRD2 |
bromodomain containing 2 |
|
ISO |
DNA:SNPs:promoter (human) |
RGD |
PMID:12830434 |
RGD:1358444 |
NCBI chr12:2,534,034...2,546,029
Ensembl chr12:2,534,034...2,546,029
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G |
CACNA1G |
calcium voltage-gated channel subunit alpha1 G |
|
ISO |
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy |
ClinVar |
|
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NCBI chr 9:26,481,148...26,544,511
Ensembl chr 9:26,481,652...26,544,845
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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:27843123 PMID:28492532 |
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NCBI chr19:52,987,170...53,116,410
Ensembl chr19:52,993,618...53,116,140 Ensembl chr19:52,993,618...53,116,140
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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 |
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NCBI chr18:33,695,371...33,733,688
Ensembl chr18:33,695,371...33,733,688
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G |
CHRNA1 |
cholinergic receptor nicotinic alpha 1 subunit |
|
ISO |
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr36:18,726,243...18,742,505
Ensembl chr36:18,726,243...18,742,505
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EFHC1 |
EF-hand domain containing 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: EJM1 | ClinVar Annotator: match by term: Janz syndrome | ClinVar Annotator: match by term: Juvenile myoclonic epilepsy | ClinVar Annotator: match by term: Myoclonic Epilepsy, Juvenile, 1 |
OMIM ClinVar |
PMID:8737649 PMID:9536098 PMID:12439895 PMID:15258581 PMID:16199547 PMID:16839746 PMID:17054699 PMID:17159113 PMID:17576681 PMID:17634063 PMID:18414213 PMID:18505993 PMID:18823326 PMID:20981092 PMID:22226147 PMID:22690745 PMID:22727576 PMID:22926142 PMID:23527921 PMID:24965021 PMID:25108116 PMID:25326635 PMID:25489633 PMID:25625532 PMID:25741868 PMID:26132555 PMID:26467025 PMID:27467453 PMID:28370826 PMID:28492532 PMID:29750216 PMID:34426522 More...
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NCBI chr12:20,068,287...20,131,621
Ensembl chr12:20,067,881...20,131,619
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GABRA1 |
gamma-aminobutyric acid type A receptor subunit alpha1 |
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ISO |
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy |
ClinVar |
PMID:26467025 |
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NCBI chr 4:49,006,981...49,065,205
Ensembl chr 4:49,009,495...49,062,581
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HSD17B3 |
hydroxysteroid 17-beta dehydrogenase 3 |
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ISO |
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy |
ClinVar |
PMID:25741868 PMID:27899157 PMID:28492532 PMID:33468338 PMID:35432193 PMID:36110220 PMID:37741351 More...
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NCBI chr 1:70,551,013...70,586,364
Ensembl chr 1:70,487,334...70,586,368
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JRK |
Jrk helix-turn-helix protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11463517 |
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NCBI chr13:36,754,771...36,767,799
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CILK1 |
ciliogenesis associated kinase 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: CILK1-related condition |
ClinVar OMIM |
PMID:25741868 PMID:28492532 |
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NCBI chr12:20,453,322...20,511,463
Ensembl chr12:20,450,834...20,511,673
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EPM2A |
EPM2A glucan phosphatase, laforin |
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ISO |
ClinVar Annotator: match by term: Lafora disease |
ClinVar |
PMID:9771710 PMID:9931343 PMID:10932264 PMID:11175283 PMID:11735300 PMID:12019207 PMID:14532330 PMID:14706656 PMID:16021330 PMID:16134145 PMID:16199547 PMID:17010495 PMID:17389303 PMID:20738377 PMID:21623095 PMID:25246353 PMID:25544560 PMID:25741868 PMID:26467025 PMID:27843123 PMID:28492532 PMID:33773408 PMID:34568804 PMID:34755096 More...
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NCBI chr 1:36,835,775...36,977,653
Ensembl chr 1:36,870,594...36,931,847
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NHLRC1 |
NHL repeat containing E3 ubiquitin protein ligase 1 |
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ISO IAGP |
ClinVar Annotator: match by term: Epilepsy progressive myoclonic 2 | ClinVar Annotator: match by term: Lafora disease Myoclonus epilepsy of Lafora |
ClinVar OMIA |
PMID:1261712 PMID:2165776 PMID:5436097 PMID:11899039 PMID:12958597 PMID:12960212 PMID:15637270 PMID:15744941 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:21908571 PMID:22047982 PMID:22815132 PMID:23317923 PMID:23683021 PMID:23806086 PMID:24070682 PMID:24452334 PMID:25270369 PMID:25401298 PMID:25667860 PMID:25683376 PMID:25741868 PMID:26467025 PMID:26931499 PMID:27054081 PMID:27194917 PMID:27747878 PMID:28492532 PMID:28556688 PMID:28557061 PMID:28767715 PMID:29431110 PMID:29588937 PMID:29655203 PMID:29899791 PMID:30525203 PMID:30701169 PMID:31172540 PMID:31227012 PMID:31758957 PMID:31858178 PMID:32587944 PMID:33086413 PMID:33769611 PMID:34263924 PMID:34357061 PMID:34486182 PMID:35319117 PMID:38003185 PMID:38275603 PMID:39520132 More...
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NCBI chr35:16,920,687...16,921,829
Ensembl chr35:16,920,687...16,921,829
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TPMT |
thiopurine S-methyltransferase |
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ISO |
ClinVar Annotator: match by term: Lafora disease |
ClinVar |
PMID:15781812 PMID:17389303 PMID:23317923 PMID:28492532 |
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NCBI chr35:16,928,991...16,953,891
Ensembl chr35:16,929,240...16,953,229
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IL1A |
interleukin 1 alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
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NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435
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IL1B |
interleukin 1 beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
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NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
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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:11,778...13,598
Ensembl chr MT:11,778...13,598
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ADSL |
adenylosuccinate lyase |
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ISO |
ClinVar Annotator: match by term: Generalized myoclonic seizures |
ClinVar |
PMID:10888601 PMID:17188615 PMID:18524658 PMID:20127976 PMID:22180458 PMID:25741868 PMID:28492532 PMID:31467849 PMID:31623504 PMID:33648541 More...
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NCBI chr10:24,813,854...24,832,115
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ATP2B2 |
ATPase plasma membrane Ca2+ transporting 2 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr20:7,665,468...8,037,407
Ensembl chr20:7,749,807...8,034,474
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BRK1 |
BRICK1 subunit of SCAR/WAVE actin nucleating complex |
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ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr20:8,220,109...8,231,337
Ensembl chr20:8,221,575...8,231,258
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CHD2 |
chromodomain helicase DNA binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy |
ClinVar |
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NCBI chr 3:47,101,789...47,221,473
Ensembl chr 3:47,105,046...47,221,385
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CHRNA2 |
cholinergic receptor nicotinic alpha 2 subunit |
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ISO |
ClinVar Annotator: match by term: myoclonic epilepsy |
ClinVar |
PMID:28492532 |
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NCBI chr25:30,117,384...30,137,223
Ensembl chr25:30,117,239...30,135,599
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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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EPM2A |
EPM2A glucan phosphatase, laforin |
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ISO |
ClinVar Annotator: match by term: Myoclonus epilepsy |
ClinVar |
PMID:9771710 PMID:9931343 PMID:11175283 PMID:12019207 PMID:14532330 PMID:20738377 PMID:21623095 PMID:25246353 PMID:25741868 PMID:26467025 PMID:28492532 PMID:33773408 PMID:34755096 More...
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NCBI chr 1:36,835,775...36,977,653
Ensembl chr 1:36,870,594...36,931,847
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FANCD2 |
FA complementation group D2 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr20:8,240,270...8,297,269
Ensembl chr20:8,240,311...8,297,568
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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 chr20:8,236,303...8,239,662
Ensembl chr20:8,236,445...8,239,193
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GHRL |
ghrelin and obestatin prepropeptide |
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ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr20:8,092,921...8,097,512
Ensembl chr20:8,092,957...8,097,510
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GOSR2 |
golgi SNAP receptor complex member 2 |
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ISO |
ClinVar Annotator: match by term: Myoclonus epilepsy |
ClinVar |
PMID:16199547 PMID:21549339 PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31440721 PMID:31980526 PMID:34167170 PMID:34426522 PMID:37895210 More...
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NCBI chr 9:10,201,625...10,220,688
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HNRNPU |
heterogeneous nuclear ribonucleoprotein U |
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ISO |
ClinVar Annotator: match by term: Myoclonic absence seizure |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:35,832,956...35,842,898
Ensembl chr 7:35,833,988...35,843,754
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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 chr20:8,133,987...8,197,009
Ensembl chr20:8,134,970...8,196,910
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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 chr24:36,016,800...36,118,873
Ensembl chr24:36,025,472...36,117,934
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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 chr20:56,652,183...56,663,476
Ensembl chr20:56,652,750...56,670,278
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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:13,582...14,109
Ensembl chr MT:13,582...14,109
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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 chr 5:38,806,731...38,839,002
Ensembl chr 5:38,807,826...38,838,971
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G |
POMC |
proopiomelanocortin |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:6088243 |
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NCBI chr17:19,431,396...19,438,247
Ensembl chr17:19,431,585...19,434,440
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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 chr20:26,810,167...27,131,864
Ensembl chr20:26,809,958...27,220,057
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G |
PRMT7 |
protein arginine methyltransferase 7 |
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ISO |
ClinVar Annotator: match by term: Generalized myoclonic seizures |
ClinVar |
PMID:25741868 PMID:33085104 |
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NCBI chr 5:81,172,085...81,216,708
Ensembl chr 5:81,173,147...81,216,669
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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 chr15:56,133,094...56,353,609
Ensembl chr15:56,174,578...56,352,569
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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 chr13:17,525,855...17,897,153
Ensembl chr13:17,528,421...17,897,009
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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 chr32:788,117...865,496
Ensembl chr32:790,379...865,502
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SCN1A |
sodium voltage-gated channel alpha subunit 1 |
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ISO |
ClinVar Annotator: match by term: Myoclonic encephalopathy | ClinVar Annotator: match by term: myoclonic epilepsy |
ClinVar |
PMID:17347258 PMID:28492532 PMID:35571373 |
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NCBI chr36:11,105,936...11,245,978
Ensembl chr36:11,108,050...11,183,496
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SEC13 |
SEC13 homolog, nuclear pore and COPII coat complex component |
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ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr20:8,041,485...8,075,078
Ensembl chr20:8,041,544...8,075,076
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SEMA6B |
semaphorin 6B |
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ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy |
ClinVar |
PMID:25741868 |
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NCBI chr20:55,151,913...55,173,434
Ensembl chr20:55,161,818...55,173,135
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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 chr15:463,307...493,145
Ensembl chr15:463,237...493,140
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SLC6A1 |
solute carrier family 6 member 1 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy | ClinVar Annotator: match by term: 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 chr20:7,341,071...7,383,197
Ensembl chr20:7,341,072...7,383,287
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SLC6A11 |
solute carrier family 6 member 11 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr20:7,431,015...7,559,903
Ensembl chr20:7,433,194...7,560,564
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G |
SLC7A6OS |
solute carrier family 7 member 6 opposite strand |
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ISO |
ClinVar Annotator: match by term: Generalized myoclonic seizures |
ClinVar |
PMID:25741868 PMID:33085104 |
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NCBI chr 5:81,216,704...81,227,802
Ensembl chr 5:81,216,509...81,227,121
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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 chr15:16,324,752...16,434,256
Ensembl chr15:16,324,899...16,401,616
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G |
STXBP1 |
syntaxin binding protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18469812 PMID:29929108 |
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NCBI chr 9:55,690,939...55,768,008
Ensembl chr 9:55,678,264...55,727,680
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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 chr20:8,101,994...8,131,578
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G |
TNRC6A |
trinucleotide repeat containing adaptor 6A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29507423 |
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NCBI chr 6:21,247,492...21,454,424
Ensembl chr 6:21,248,948...21,420,719
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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 chr20:8,206,616...8,211,347
Ensembl chr20:8,206,616...8,211,323
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G |
EPM2A |
EPM2A glucan phosphatase, laforin |
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ISO |
ClinVar Annotator: match by term: EPM2A-related condition | ClinVar Annotator: match by term: Myoclonic epilepsy of Lafora 1 |
OMIM ClinVar |
PMID:9771710 PMID:9931343 PMID:10932264 PMID:11175283 PMID:11739371 PMID:12019207 PMID:14532330 PMID:14706656 PMID:14722920 PMID:16134145 PMID:19403557 PMID:20738377 PMID:21623095 PMID:25246353 PMID:25544560 PMID:25741868 PMID:26467025 PMID:28492532 PMID:33773408 PMID:34568804 PMID:34755096 More...
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NCBI chr 1:36,835,775...36,977,653
Ensembl chr 1:36,870,594...36,931,847
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G |
NHLRC1 |
NHL repeat containing E3 ubiquitin protein ligase 1 |
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ISO |
ClinVar Annotator: match by term: Myoclonic epilepsy of Lafora 1 |
ClinVar |
PMID:25741868 |
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NCBI chr35:16,920,687...16,921,829
Ensembl chr35:16,920,687...16,921,829
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G |
NHLRC1 |
NHL repeat containing E3 ubiquitin protein ligase 1 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 2b | ClinVar Annotator: match by term: Myoclonic epilepsy of Lafora 2 |
OMIM ClinVar |
PMID:12958597 PMID:12960212 PMID:15781812 PMID:15930137 PMID:16134145 PMID:16190947 PMID:16311711 PMID:16529633 PMID:16950819 PMID:17389303 PMID:17952067 PMID:18029386 PMID:18256682 PMID:18263761 PMID:18311786 PMID:19267391 PMID:19744044 PMID:20301563 PMID:20738377 PMID:21505799 PMID:22047982 PMID:22815132 PMID:24452334 PMID:25270369 PMID:25401298 PMID:25667860 PMID:25683376 PMID:25741868 PMID:26467025 PMID:27194917 PMID:28492532 PMID:28556688 PMID:29431110 PMID:29588937 PMID:30701169 PMID:31227012 PMID:31758957 PMID:31858178 PMID:32587944 More...
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NCBI chr35:16,920,687...16,921,829
Ensembl chr35:16,920,687...16,921,829
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CCNF |
cyclin F |
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ISO |
ClinVar Annotator: match by term: Familial infantile myoclonic epilepsy |
ClinVar |
PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 PMID:26467025 PMID:27259978 PMID:27281533 PMID:28301460 PMID:28492532 PMID:28951997 PMID:29358611 More...
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NCBI chr 6:38,572,883...38,592,465
Ensembl chr 6:38,574,234...38,592,435
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G |
NUBPL |
NUBP iron-sulfur cluster assembly factor, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Familial infantile myoclonic epilepsy |
ClinVar |
PMID:20818383 PMID:22072591 PMID:23553477 PMID:23828044 PMID:25326637 PMID:25741868 PMID:28492532 PMID:29982452 PMID:32518176 More...
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NCBI chr 8:10,796,462...11,026,804
Ensembl chr 8:10,796,459...11,090,920
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G |
TBC1D24 |
TBC1 domain family member 24 |
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ISO |
ClinVar Annotator: match by term: Familial infantile myoclonic epilepsy |
OMIM ClinVar |
PMID:10574461 PMID:10741954 PMID:18414213 PMID:20727515 PMID:20797691 PMID:22277662 PMID:23526554 PMID:24033266 PMID:24291220 PMID:24848745 PMID:25741868 PMID:25769375 PMID:26207815 PMID:26371875 PMID:26467025 PMID:26668325 PMID:27259978 PMID:27281533 PMID:27784474 PMID:28292732 PMID:28301460 PMID:28428906 PMID:28492532 PMID:28726039 PMID:28951997 PMID:29358611 PMID:29671961 PMID:30180405 PMID:30311386 PMID:30335140 PMID:30776697 PMID:31112829 PMID:31216405 PMID:32004315 PMID:33619735 More...
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NCBI chr 6:38,531,547...38,557,472
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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 chr20:8,441,994...8,453,131
Ensembl chr20:8,442,788...8,453,057
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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 1:112,325,988...112,346,056
Ensembl chr 1:112,325,289...112,346,916
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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 chr20:7,665,468...8,037,407
Ensembl chr20:7,749,807...8,034,474
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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 chr20:8,220,109...8,231,337
Ensembl chr20:8,221,575...8,231,258
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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 chr20:8,493,183...8,508,785
Ensembl chr20:8,493,167...8,506,449
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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 chr20:48,747,087...49,036,627
Ensembl chr20:48,821,025...49,036,032
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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 chr20:8,475,902...8,486,214
Ensembl chr20:8,475,716...8,486,214
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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:42,206,553...42,217,607
Ensembl chr X:42,210,804...42,216,993
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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 3:47,101,789...47,221,473
Ensembl chr 3:47,105,046...47,221,385
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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 chr20:8,386,334...8,402,076
Ensembl chr20:8,386,415...8,401,774
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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 chr20:8,511,267...8,529,630
Ensembl chr20:8,511,350...8,529,473
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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 chr20:8,333,911...8,342,429
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DNM1 |
dynamin 1 |
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ISO |
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RGD |
PMID:27363778 |
RGD:11557016 |
NCBI chr 9:55,252,802...55,298,244
Ensembl chr 9:55,252,347...55,298,244
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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 chr20:8,297,263...8,316,405
Ensembl chr20:8,297,274...8,315,426
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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 chr20:8,240,270...8,297,269
Ensembl chr20:8,240,311...8,297,568
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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 chr20:8,236,303...8,239,662
Ensembl chr20:8,236,445...8,239,193
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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 chr34:23,818,445...24,357,825
Ensembl chr34:23,819,686...24,357,373
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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:116,249,079...116,287,008
Ensembl chr X:116,249,142...116,321,439
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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 chr20:8,092,921...8,097,512
Ensembl chr20:8,092,957...8,097,510
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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 chr20:8,342,622...8,355,996
Ensembl chr20:8,334,345...8,355,387
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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 chr20:8,356,150...8,376,175
Ensembl chr20:8,356,728...8,367,658
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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:44,861,813...44,915,011
Ensembl chr X:44,872,888...44,913,704
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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 chr20:8,133,987...8,197,009
Ensembl chr20:8,134,970...8,196,910
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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 chr20:8,372,981...8,376,089
Ensembl chr20:8,373,316...8,376,085
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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 6:6,263,374...6,285,734
Ensembl chr 6:6,264,548...6,286,026
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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 chr20:8,530,682...8,576,911
Ensembl chr20:8,530,711...8,576,913
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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 chr20:8,486,150...8,491,448
Ensembl chr20:8,480,005...8,491,264
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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 chr28:9,977,463...10,095,363
Ensembl chr28:9,978,900...10,095,284
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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:42,218,038...42,221,075
Ensembl chr X:42,218,046...42,226,422
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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 chr20:8,325,232...8,333,155
Ensembl chr20:8,328,943...8,332,954
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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 8:14,221,516...14,463,481
Ensembl chr 8:14,222,749...14,462,998
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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 6:34,218,276...36,255,529
Ensembl chr 6:34,220,648...36,255,384
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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 chr20:8,406,549...8,414,029
Ensembl chr20:8,406,571...8,413,004
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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 chr36:11,105,936...11,245,978
Ensembl chr36:11,108,050...11,183,496
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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:19442771 PMID:19710327 PMID:23456818 PMID:25741868 PMID:28218389 PMID:28492532 PMID:37845033 More...
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NCBI chr 1:117,504,428...117,510,666
Ensembl chr 1:117,503,828...117,511,727
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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 chr36:10,472,496...10,605,055
Ensembl chr36:10,472,361...10,602,685
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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 chr27:3,174,257...3,348,349
Ensembl chr27:3,176,013...3,296,482
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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 chr20:8,041,485...8,075,078
Ensembl chr20:8,041,544...8,075,076
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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 chr 5:30,655,167...30,677,551
Ensembl chr 5:30,655,760...30,674,653
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SLC6A1 |
solute carrier family 6 member 1 |
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ISO |
ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder ClinVar Annotator: match by term: 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:32032478 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:35368288 PMID:35701389 PMID:35761184 PMID:36674476 PMID:36895422 PMID:37502687 PMID:37647852 PMID:37700749 PMID:38781976 More...
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NCBI chr20:7,341,071...7,383,197
Ensembl chr20:7,341,072...7,383,287
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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 chr20:7,431,015...7,559,903
Ensembl chr20:7,433,194...7,560,564
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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 chr38:2,506,617...2,741,866
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STXBP1 |
syntaxin binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Early onset epileptic encephalopathy | ClinVar Annotator: match by term: Infantile spasm |
ClinVar |
PMID:18414213 PMID:20887364 PMID:22612257 PMID:24781210 PMID:25356970 PMID:25741868 PMID:25758715 PMID:25818041 PMID:26384463 PMID:26795593 PMID:26865513 PMID:26993267 PMID:27779742 PMID:28492532 PMID:29264391 PMID:30185235 PMID:30842647 PMID:32643187 More...
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NCBI chr 9:55,690,939...55,768,008
Ensembl chr 9:55,678,264...55,727,680
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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 chr20:8,453,269...8,464,921
Ensembl chr20:8,453,489...8,464,913
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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 chr20:8,101,994...8,131,578
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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 6:38,531,547...38,557,472
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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 chr20:8,414,289...8,439,071
Ensembl chr20:8,415,723...8,439,056
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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 chr20:8,206,616...8,211,347
Ensembl chr20:8,206,616...8,211,323
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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:42,221,261...42,237,535
Ensembl chr X:42,218,046...42,226,422
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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 chr10:1,637,007...1,666,790
Ensembl chr10:1,636,932...1,664,767
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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:25741868 PMID:36001086 |
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NCBI chr 5:31,821,263...31,822,946
Ensembl chr 5:31,821,610...31,822,890
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POMC |
proopiomelanocortin |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:1318289 |
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NCBI chr17:19,431,396...19,438,247
Ensembl chr17:19,431,585...19,434,440
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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 6:22,439,643...22,481,349
Ensembl chr 6:22,439,643...22,481,349
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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:26467025 PMID:28492532 PMID:29177515 PMID:29978154 PMID:30854332 PMID:30877234 PMID:31589614 PMID:31981491 PMID:32581362 PMID:33854214 PMID:36010880 More...
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NCBI chr34:11,935,684...11,965,094
Ensembl chr34:11,935,941...11,965,189
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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 chr35:16,920,687...16,921,829
Ensembl chr35:16,920,687...16,921,829
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G |
ABCG1 |
ATP binding cassette subfamily G member 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr31:36,574,406...36,627,598
Ensembl chr31:36,553,380...36,620,043
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G |
ADARB1 |
adenosine deaminase RNA specific B1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr31:38,715,529...38,799,353
Ensembl chr31:38,678,184...38,796,521
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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 7:77,749,029...77,787,466
Ensembl chr 7:77,737,808...77,787,472
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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 chr31:37,855,323...37,879,816
Ensembl chr31:37,844,109...37,879,741
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G |
AIRE |
autoimmune regulator |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr31:38,139,513...38,149,294
Ensembl chr31:38,139,099...38,149,296
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G |
ART3 |
ADP-ribosyltransferase 3 (inactive) |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
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NCBI chr32:563,628...742,482
Ensembl chr32:537,603...742,292
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G |
ATN1 |
atrophin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10814707 |
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NCBI chr27:38,104,683...38,118,957
Ensembl chr27:38,104,842...38,111,462
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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 chr31:36,291,853...36,355,472
Ensembl chr31:36,274,539...36,348,657
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G |
C31H21orf58 |
chromosome 31 C21orf58 homolog |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr31:39,567,515...39,576,238
Ensembl chr31:39,567,614...39,574,285
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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 chr31:37,230,900...37,247,170
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G |
CCDC158 |
coiled-coil domain containing 158 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
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NCBI chr32:957,336...1,084,795
Ensembl chr32:957,402...1,060,813
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G |
CDKL2 |
cyclin dependent kinase like 2 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
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NCBI chr32:158,140...206,860
Ensembl chr32:159,332...202,617
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G |
CERS1 |
ceramide synthase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr20:44,216,568...44,231,820
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G |
CFAP410 |
cilia and flagella associated protein 410 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr31:38,183,181...38,192,739
Ensembl chr31:38,183,188...38,196,113
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G |
CHD2 |
chromodomain helicase DNA binding protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 3:47,101,789...47,221,473
Ensembl chr 3:47,105,046...47,221,385
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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 Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:26544041 PMID:27843123 PMID:28041643 PMID:28492532 PMID:28542676 PMID:29140481 PMID:31273342 PMID:32412666 More...
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NCBI chr 6:18,252,543...18,266,033
Ensembl chr 6:18,254,139...18,266,033
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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: Progressive myoclonic epilepsy |
ClinVar |
PMID:18414213 PMID:24767253 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr22:30,568,572...30,575,890
Ensembl chr22:30,568,572...30,575,890
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G |
CLN6 |
CLN6 transmembrane ER protein |
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ISO |
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive |
ClinVar |
PMID:25741868 |
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NCBI chr30:32,246,394...32,264,251
Ensembl chr30:32,246,411...32,264,240
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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 chr31:38,915,872...38,957,484
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G |
COL6A1 |
collagen type VI alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr31:39,301,718...39,319,895
Ensembl chr31:39,301,748...39,448,062
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G |
COL6A2 |
collagen type VI alpha 2 chain |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr31:39,433,174...39,448,051
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|
G |
CRYAA |
crystallin alpha A |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr31:37,307,070...37,310,262
Ensembl chr31:37,307,093...37,310,247
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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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|
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 chr32:598,406...599,925
Ensembl chr32:597,987...599,979
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G |
CXCL11 |
C-X-C motif chemokine ligand 11 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
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NCBI chr32:631,084...636,997
Ensembl chr32:631,478...632,868 Ensembl chr32:631,478...632,868
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G |
DNAJC5 |
DnaJ heat shock protein family (Hsp40) member C5 |
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ISO |
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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|
G |
DNMT3L |
DNA methyltransferase 3 like |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr31:38,099,100...38,111,432
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|
G |
EPM2A |
EPM2A glucan phosphatase, laforin |
|
ISO |
ClinVar Annotator: match by term: Myoclonic epilepsy, progressive, X-linked | ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar Annotator: match by term: Myoclonic epilepsy, progressive, X-linked | ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:9536098 PMID:9771710 PMID:9931343 PMID:10932264 PMID:11175283 PMID:11735300 PMID:11739371 PMID:12019207 PMID:14532330 PMID:14706656 PMID:14722920 PMID:16021330 PMID:16134145 PMID:16199547 PMID:16311711 PMID:17010495 PMID:17389303 PMID:17509003 PMID:17576681 PMID:18029386 PMID:18311786 PMID:18414213 PMID:19403557 PMID:20738377 PMID:21623095 PMID:21652633 PMID:25246353 PMID:25544560 PMID:25741868 PMID:26467025 PMID:26493215 PMID:27574708 PMID:27843123 PMID:28492532 PMID:28800070 PMID:28934672 PMID:30041081 PMID:30947044 PMID:31227012 PMID:31493945 PMID:32342326 PMID:33773408 PMID:34117373 PMID:34568804 PMID:34755096 More...
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NCBI chr 1:36,835,775...36,977,653
Ensembl chr 1:36,870,594...36,931,847
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G |
FAM47E |
family with sequence similarity 47 member E |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
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NCBI chr32:904,947...930,985
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G |
FBXL3 |
F-box and leucine rich repeat protein 3 |
|
ISO |
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:18414213 PMID:24767253 PMID:25741868 PMID:28492532 |
|
NCBI chr22:30,579,598...30,598,879
Ensembl chr22:30,581,474...30,598,886
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G |
FTCD |
formimidoyltransferase cyclodeaminase |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr31:39,451,557...39,464,249
Ensembl chr31:39,275,159...39,464,715
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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 chr32:218,783...305,734
Ensembl chr32:220,439...252,593
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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 chr31:38,028,087...38,037,173
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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:31980526 PMID:32032478 PMID:33639315 PMID:34167170 PMID:34426522 PMID:37895210 More...
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NCBI chr 9:10,201,625...10,220,688
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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 chr31:37,543,448...37,643,534
Ensembl chr31:37,503,052...37,643,505
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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 |
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NCBI chr31:38,084,861...38,094,743
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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 chr31:38,520,733...38,547,003
Ensembl chr31:38,521,103...38,547,018
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G |
KCNC1 |
potassium voltage-gated channel subfamily C member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25401298 |
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NCBI chr21:40,273,366...40,315,189
Ensembl chr21:40,273,827...40,315,189
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G |
KCTD7 |
potassium channel tetramerization domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
|
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|
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G |
LMNB2 |
lamin B2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
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NCBI chr20:56,652,183...56,663,476
Ensembl chr20:56,652,750...56,670,278
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G |
LOC100685322 |
keratin-associated protein 2-3-like |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr 9:21,616,121...21,616,992
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G |
LOC100855886 |
keratin-associated protein 12-1-like |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr31:38,396,048...38,396,735
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G |
LOC102151833 |
keratin-associated protein 10-7-like |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr31:38,306,220...38,307,536
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G |
LOC610875 |
keratin-associated protein 10-8 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr31:36,034,027...36,035,010
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G |
LOC610882 |
keratin-associated protein 12-1-like |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr31:36,039,505...36,040,735
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G |
LOC610887 |
keratin-associated protein 12-1-like |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr31:36,042,743...36,043,443
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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 chr31:38,260,952...38,265,951
Ensembl chr31:38,261,199...38,261,972
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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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NCBI chr31:39,479,255...39,502,439
Ensembl chr31:39,480,581...39,503,042
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G |
MCM3AP |
minichromosome maintenance complex component 3 associated protein |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr31:39,507,714...39,559,855
Ensembl chr31:39,507,729...39,561,674
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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 |
|
NCBI chr19:12,905,336...13,030,901
Ensembl chr19:12,982,394...13,020,083
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G |
NAAA |
N-acylethanolamine acid amidase |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
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NCBI chr32:483,317...504,304
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G |
NDUFV3 |
NADH:ubiquinone oxidoreductase subunit V3 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr31:37,118,201...37,131,035
Ensembl chr31:37,118,247...37,130,810
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G |
NEU1 |
neuraminidase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25401298 |
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NCBI chr12:1,323,659...1,327,989
Ensembl chr12:1,323,877...1,328,520
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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 chr35:16,920,687...16,921,829
Ensembl chr35:16,920,687...16,921,829
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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 chr32:751,568...782,342
Ensembl chr32:751,982...782,314
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G |
ODAPH |
odontogenesis associated phosphoprotein |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
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NCBI chr32:133,974...141,303
Ensembl chr32:133,816...140,958
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G |
OPTN |
optineurin |
|
ISO |
protein:increased expression:neuron, nucleus |
RGD |
PMID:22318854 |
RGD:6480499 |
NCBI chr 2:23,356,471...23,390,569
Ensembl chr 2:23,357,237...23,392,511
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G |
PCBP3 |
poly(rC) binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr31:39,025,744...39,275,239
Ensembl chr31:39,025,731...39,275,239
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G |
PCNT |
pericentrin |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr31:39,576,344...39,677,118
Ensembl chr31:39,578,039...39,676,820
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G |
PDE9A |
phosphodiesterase 9A |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr31:36,949,777...37,036,237
Ensembl chr31:36,949,723...37,035,809
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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 chr31:37,686,002...37,710,059
Ensembl chr31:37,685,492...37,707,767
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G |
PFKL |
phosphofructokinase, liver type |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr31:38,153,638...38,178,741
Ensembl chr31:38,156,451...38,178,507
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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 |
|
NCBI chr31:37,189,753...37,223,844
Ensembl chr31:37,192,992...37,220,926
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G |
POFUT2 |
protein O-fucosyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr31:38,813,252...38,821,656
Ensembl chr31:38,813,255...38,818,734
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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 chr32:443,495...467,929
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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 chr15:2,815,428...2,886,474
Ensembl chr15:2,859,979...2,894,425
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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 chr31:36,220,532...36,285,752
Ensembl chr31:36,223,507...36,286,699
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G |
PRDM8 |
PR/SET domain 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr32:4,435,693...4,451,500
Ensembl chr32:4,443,289...4,451,036
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G |
PRICKLE1 |
prickle planar cell polarity protein 1 |
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ISO |
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: PME |
ClinVar |
PMID:18414213 PMID:20301774 PMID:21901791 PMID:24689077 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 More...
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NCBI chr27:11,327,086...11,437,799
Ensembl chr27:11,426,647...11,437,303
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G |
PRICKLE2 |
prickle planar cell polarity protein 2 |
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ISO |
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:21276947 PMID:23711981 PMID:25741868 PMID:26467025 PMID:26942291 PMID:26942292 PMID:28492532 PMID:29358611 More...
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NCBI chr20:26,810,167...27,131,864
Ensembl chr20:26,809,958...27,220,057
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G |
PRNP |
prion protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25401298 |
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NCBI chr24:16,845,224...16,862,319
Ensembl chr24:16,846,207...16,859,815
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G |
PTTG1IP |
PTTG1 interacting protein |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr31:38,494,608...38,513,997
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G |
PWP2 |
PWP2 small subunit processome component |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr31:38,000,181...38,012,882
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G |
RIPK4 |
receptor interacting serine/threonine kinase 4 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr31:36,168,172...36,196,600
Ensembl chr31:36,169,530...36,196,600
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G |
RRP1 |
ribosomal RNA processing 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr31:37,732,567...37,779,319
Ensembl chr31:37,732,618...37,746,376
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G |
RRP1B |
ribosomal RNA processing 1B |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr31:37,652,584...37,670,396
Ensembl chr31:37,652,863...37,667,895
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G |
RSPH1 |
radial spoke head component 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr31:36,771,829...36,811,067
Ensembl chr31:36,789,571...36,812,050
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G |
SACS |
sacsin molecular chaperone |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25401298 |
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NCBI chr25:15,207,959...15,297,483
Ensembl chr25:15,207,839...15,296,078
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G |
SCARB2 |
scavenger receptor class B member 2 |
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ISO |
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar Annotator: match by term: Familial progressive myoclonic epilepsy | ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | 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 PMID:38898598 More...
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NCBI chr32:788,117...865,496
Ensembl chr32:790,379...865,502
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G |
SDAD1 |
SDA1 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
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NCBI chr32:511,810...538,293
Ensembl chr32:514,697...538,140
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G |
SERPINI1 |
serpin family I member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25401298 |
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NCBI chr34:32,553,876...32,624,708
Ensembl chr34:32,553,902...32,624,526
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G |
SHROOM3 |
shroom family member 3 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
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NCBI chr32:1,218,513...1,392,014
Ensembl chr32:1,271,392...1,391,798
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G |
SIK1 |
salt inducible kinase 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr31:37,455,130...37,466,829
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G |
SLC19A1 |
solute carrier family 19 member 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr31:38,958,332...38,971,091
Ensembl chr31:38,967,013...38,971,094
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G |
SLC37A1 |
solute carrier family 37 member 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr31:36,815,384...36,889,563
Ensembl chr31:36,828,382...36,889,520
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G |
SLX9 |
SLX9 ribosome biogenesis factor |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr31:38,559,175...38,593,152
Ensembl chr31:38,558,629...38,591,996
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G |
SPATC1L |
spermatogenesis and centriole associated 1 like |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr31:39,467,365...39,475,061
Ensembl chr31:39,459,176...39,475,074
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G |
STBD1 |
starch binding domain 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
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NCBI chr32:932,245...953,070
Ensembl chr32:951,698...952,897
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G |
SUMO3 |
small ubiquitin like modifier 3 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr31:38,472,076...38,484,358
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G |
TBC1D24 |
TBC1 domain family member 24 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25401298 |
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NCBI chr 6:38,531,547...38,557,472
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G |
TFF1 |
trefoil factor 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr31:36,681,478...36,684,571
Ensembl chr31:36,681,357...36,695,665
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G |
TFF2 |
trefoil factor 2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr31:36,665,647...36,668,423
Ensembl chr31:36,665,514...36,668,440
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G |
TFF3 |
trefoil factor 3 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr31:36,638,762...36,641,696
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G |
TMPRSS3 |
transmembrane serine protease 3 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr31:36,706,229...36,730,444
Ensembl chr31:36,707,723...36,730,520
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G |
TPP1 |
tripeptidyl peptidase 1 |
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ISO |
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr21:29,921,764...29,926,974
Ensembl chr21:29,921,764...29,926,986
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G |
TRAPPC10 |
trafficking protein particle complex subunit 10 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr31:37,910,480...37,999,559
Ensembl chr31:37,910,322...37,997,188
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G |
TRPM2 |
transient receptor potential cation channel subfamily M member 2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr31:38,201,075...38,224,076
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G |
TSC1 |
TSC complex subunit 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17484760 |
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NCBI chr 9:51,409,307...51,459,546
Ensembl chr 9:51,425,937...51,454,677
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G |
TSPEAR |
thrombospondin type laminin G domain and EAR repeats |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr31:38,273,306...38,340,525
Ensembl chr31:38,272,592...38,337,373
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G |
U2AF1 |
U2 small nuclear RNA auxiliary factor 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr31:37,263,265...37,276,710
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G |
UBASH3A |
ubiquitin associated and SH3 domain containing A |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr31:36,735,790...36,778,405
Ensembl chr31:36,735,835...36,778,405
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G |
UBE2G2 |
ubiquitin conjugating enzyme E2 G2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr31:38,432,855...38,470,202
Ensembl chr31:38,433,332...38,470,136
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G |
UMODL1 |
uromodulin like 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr31:36,452,008...36,510,649
Ensembl chr31:36,449,660...36,510,683
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G |
USO1 |
USO1 vesicle transport factor |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
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NCBI chr32:305,895...395,113
Ensembl chr32:305,935...394,896
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G |
WDR4 |
WD repeat domain 4 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr31:37,085,126...37,106,803
Ensembl chr31:37,085,779...37,106,788
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G |
WNT3 |
Wnt family member 3 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:21549339 PMID:28492532 |
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NCBI chr 9:10,073,019...10,124,454
Ensembl chr 9:10,077,567...10,124,508
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G |
WNT9B |
Wnt family member 9B |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:21549339 PMID:28492532 |
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NCBI chr 9:10,157,607...10,172,664
Ensembl chr 9:10,149,842...10,172,654
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G |
YBEY |
ybeY metalloendoribonuclease |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr31:39,559,933...39,565,775
Ensembl chr31:39,561,849...39,565,074
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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 |
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NCBI chr31:36,378,200...36,394,894
Ensembl chr31:36,379,566...36,394,911
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G |
ANTXR2 |
ANTXR cell adhesion molecule 2 |
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ISO |
ClinVar Annotator: match by term: Early-onset Lafora body disease |
ClinVar |
PMID:28492532 |
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NCBI chr32:4,143,407...4,302,194
Ensembl chr32:4,148,310...4,302,071
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G |
PRDM8 |
PR/SET domain 8 |
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ISO |
ClinVar Annotator: match by term: Early-onset Lafora body disease | ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 10 |
OMIM ClinVar |
PMID:22961547 PMID:25741868 PMID:28492532 |
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NCBI chr32:4,435,693...4,451,500
Ensembl chr32:4,443,289...4,451,036
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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 chr20:55,151,913...55,173,434
Ensembl chr20:55,161,818...55,173,135
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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 5:81,172,085...81,216,708
Ensembl chr 5:81,173,147...81,216,669
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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 5:81,216,704...81,227,802
Ensembl chr 5:81,216,509...81,227,121
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G |
CSTB |
cystatin B |
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ISO |
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OMIM |
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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 chr27:11,327,086...11,437,799
Ensembl chr27:11,426,647...11,437,303
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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 6:38,531,547...38,557,472
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G |
CLN3 |
CLN3 lysosomal/endosomal transmembrane protein, battenin |
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ISO |
ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 14 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:18,252,543...18,266,033
Ensembl chr 6:18,254,139...18,266,033
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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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G |
KCNH8 |
potassium voltage-gated channel subfamily H member 8 |
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ISO |
ClinVar Annotator: match by term: Action myoclonus-renal failure syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr23:23,618,496...23,984,735
Ensembl chr23:23,623,031...23,985,414
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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 chr24:47,219,977...47,248,791
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G |
SCARB2 |
scavenger receptor class B member 2 |
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ISO |
ClinVar Annotator: match by term: Action myoclonus-renal failure syndrome | ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 4, with or without renal failure | ClinVar Annotator: match by term: SCARB2-related condition |
OMIM ClinVar |
PMID:9536098 PMID:15364701 PMID:16199547 PMID:17576681 PMID:18308289 PMID:18424452 PMID:19454373 PMID:19597094 PMID:19847901 PMID:19933215 PMID:21670406 PMID:21796727 PMID:22032306 PMID:22767442 PMID:23225201 PMID:23515316 PMID:23659519 PMID:24339182 PMID:24485911 PMID:24620919 PMID:25088547 PMID:25741868 PMID:26467025 PMID:26836416 PMID:28222800 PMID:28492532 PMID:29261713 PMID:29358611 PMID:34791078 PMID:35478072 More...
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NCBI chr32:788,117...865,496
Ensembl chr32:790,379...865,502
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G |
FANCI |
FA complementation group I |
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ISO |
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 |
ClinVar |
PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:22237560 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25488682 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28130605 PMID:28492532 PMID:30451971 More...
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NCBI chr 3:52,282,955...52,357,874
Ensembl chr 3:52,282,731...52,357,226
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G |
POLG |
DNA polymerase gamma, catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 5 |
ClinVar |
PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 PMID:11555352 PMID:11571332 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:12975295 PMID:14557557 PMID:14635118 PMID:14694057 PMID:14745080 PMID:15122711 PMID:15181170 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15689359 PMID:15800909 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:16957900 PMID:17088268 PMID:17280874 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:21301859 PMID:21305355 PMID:21357833 PMID:21455106 PMID:21484424 PMID:21515089 PMID:21550804 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21704543 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21953457 PMID:21956653 PMID:21993618 PMID:22000311 PMID:22006280 PMID:22084276 PMID:22114710 PMID:22166854 PMID:22189570 PMID:22237560 PMID:22277967 PMID:22342071 PMID:22357363 PMID:22470557 PMID:22494076 PMID:22537151 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22863191 PMID:22931735 PMID:22987704 PMID:22995991 PMID:23077218 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:23545419 PMID:23665194 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23811324 PMID:23873972 PMID:23921535 PMID:24033266 PMID:24091540 PMID:24099403 PMID:24122062 PMID:24259288 PMID:24265579 PMID:24272679 PMID:24288107 PMID:24331360 PMID:24508722 PMID:24642831 PMID:24725338 PMID:24986207 PMID:25025039 PMID:25118206 PMID:25129007 PMID:25193669 PMID:25203713 PMID:25281868 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:27101133 PMID:27111573 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27290639 PMID:27422324 PMID:27450679 PMID:27538604 PMID:27538665 PMID:27822509 PMID:27838477 PMID:27854218 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:29590070 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:30609409 PMID:30637288 PMID:30678510 PMID:30818899 PMID:30843307 PMID:30860128 PMID:30936349 PMID:30941926 PMID:30951992 PMID:31085725 PMID:31164858 PMID:31440721 PMID:31475037 PMID:31521625 PMID:31571979 PMID:31589614 PMID:31645654 PMID:31658717 PMID:31665838 PMID:31669236 PMID:31694722 PMID:31765440 PMID:31980526 PMID:31996268 PMID:32005694 PMID:32019516 PMID:32042919 PMID:32165824 PMID:32234506 PMID:32305867 PMID:32348839 PMID:32391929 PMID:32445240 PMID:32502631 PMID:32567010 PMID:32613234 PMID:32949115 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:33763395 PMID:33791913 PMID:33956154 PMID:34008892 PMID:34023347 PMID:34052969 PMID:34062649 PMID:34194468 PMID:34288125 PMID:34426522 PMID:34445196 PMID:34490615 PMID:34504347 PMID:34504726 PMID:34670123 PMID:34690748 PMID:34732400 PMID:34782754 PMID:34803902 PMID:34927673 PMID:35114397 PMID:35186329 PMID:35289132 PMID:35298342 PMID:35307828 PMID:35350396 PMID:35478072 PMID:35598585 PMID:35641312 PMID:35699875 PMID:35790454 PMID:35799515 PMID:35860755 PMID:35861376 PMID:36065636 PMID:36325100 PMID:36332611 PMID:36342673 PMID:36403551 PMID:36658419 PMID:36703223 PMID:36703500 PMID:36918699 PMID:36964972 PMID:36987741 PMID:37091313 PMID:37168916 PMID:37184518 PMID:37189790 PMID:37256495 PMID:37349538 PMID:38012111 PMID:38294884 PMID:38772265 PMID:38845467 More...
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NCBI chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544
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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 chr20:26,810,167...27,131,864
Ensembl chr20:26,809,958...27,220,057
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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 chr28:13,672,772...13,680,732
Ensembl chr28:13,676,304...13,680,044
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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:31980526 PMID:32032478 PMID:33639315 PMID:34167170 PMID:34426522 PMID:37895210 More...
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NCBI chr 9:10,201,625...10,220,688
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G |
CSRP3 |
cysteine and glycine rich protein 3 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr21:41,300,277...41,318,788
Ensembl chr21:41,300,425...41,318,738
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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 chr21:40,770,661...40,807,329
Ensembl chr21:40,770,983...40,806,556
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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 chr21:40,725,089...40,770,665
Ensembl chr21:40,726,274...40,770,112
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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 chr21:41,075,609...41,094,302
Ensembl chr21:41,076,047...41,094,302
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G |
KCNC1 |
potassium voltage-gated channel subfamily C member 1 |
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ISO |
ClinVar Annotator: match by term: KCNC1-related condition | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25363768 PMID:25401298 PMID:25741868 PMID:26467025 PMID:27629860 PMID:28145425 PMID:28380698 PMID:28488083 PMID:28492532 PMID:28714951 PMID:29428275 PMID:29894724 PMID:31216804 PMID:31353855 PMID:31353862 PMID:31440721 PMID:32972906 PMID:33163565 PMID:33349918 PMID:33725338 PMID:33735526 PMID:34232791 PMID:35299674 PMID:36028527 PMID:36034301 More...
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NCBI chr21:40,273,366...40,315,189
Ensembl chr21:40,273,827...40,315,189
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G |
LDHA |
lactate dehydrogenase A |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr21:40,829,844...40,840,947
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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 chr21:40,844,644...40,890,407
Ensembl chr21:40,844,662...40,890,398
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G |
LOC403585 |
serum amyloid A1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr21:40,663,343...40,666,620
Ensembl chr21:40,630,810...40,666,621
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LOC751814 |
serum amyloid A1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr21:40,647,382...40,650,636
Ensembl chr21:40,629,290...40,683,641
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MGRH |
mas-related G-protein coupled receptor 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 chr18:47,212,903...47,215,195
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MRGPRX |
MAS related GPR family member X |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr21:41,195,255...41,235,734
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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 chr21:40,257,792...40,260,461
Ensembl chr21:40,258,027...40,259,712
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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 chr21:40,103,163...40,193,680
Ensembl chr21:40,106,826...40,192,475
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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 chr21:41,097,563...41,154,247
Ensembl chr21:41,097,569...41,136,706
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SAA1 |
serum amyloid A1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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G |
SAAL1 |
serum amyloid A like 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr21:40,599,442...40,625,860
Ensembl chr21:40,602,361...40,625,818
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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 chr21:40,321,334...40,540,625
Ensembl chr21:40,321,371...40,540,664
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G |
SPTY2D1 |
SPT2 chromatin protein domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr21:41,021,317...41,042,955
Ensembl chr21:41,023,629...41,042,492
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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 chr21:41,070,627...41,074,870
Ensembl chr21:41,070,581...41,073,937
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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 chr21:40,545,379...40,571,620
Ensembl chr21:40,547,682...40,566,572
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G |
TSG101 |
tumor susceptibility 101 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr21:40,910,870...40,952,922
Ensembl chr21:40,910,874...40,952,808
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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 chr21:40,956,785...41,006,532
Ensembl chr21:40,959,002...41,006,571
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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 chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430
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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 chr21:41,243,214...41,292,458
Ensembl chr21:41,243,294...41,291,995
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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 chr20:44,079,993...44,097,353
Ensembl chr20:44,080,541...44,092,501
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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 chr20:43,983,476...43,994,575
Ensembl chr20:43,984,075...43,992,955
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CERS1 |
ceramide synthase 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19243074 PMID:24033266 PMID:24782409 PMID:25741868 PMID:28492532 PMID:30800706 More...
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NCBI chr20:44,216,568...44,231,820
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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 chr20:44,306,813...44,314,575
Ensembl chr20:44,306,859...44,314,625
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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 chr20:44,195,198...44,211,613
Ensembl chr20:44,195,231...44,211,617
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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 chr20:44,187,407...44,195,131
Ensembl chr20:44,187,264...44,195,467
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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 chr20:44,233,304...44,234,072
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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 chr20:44,179,145...44,186,814
Ensembl chr20:44,179,153...44,186,814
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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 chr20:44,000,253...44,017,371
Ensembl chr20:43,991,438...44,017,368
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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 chr20:43,976,373...43,978,410
Ensembl chr20:43,976,665...43,977,823
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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 chr20:43,977,860...43,984,063
Ensembl chr20:43,977,867...43,983,273
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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 chr20:44,043,672...44,074,691
Ensembl chr20:44,044,665...44,065,282
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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 chr20:44,097,273...44,132,846
Ensembl chr20:44,097,405...44,129,842
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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 chr20:44,021,722...44,037,985
Ensembl chr20:44,020,919...44,037,938
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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 chr20:44,234,411...44,271,129
Ensembl chr20:44,236,264...44,270,916
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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 chr20:57,083,381...57,092,021
Ensembl chr20:57,086,800...57,092,001
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G |
ADAMTSL5 |
ADAMTS like 5 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr20:57,351,242...57,357,934
Ensembl chr20:57,351,575...57,357,520
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G |
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 chr20:57,062,706...57,065,492
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G |
AMH |
anti-Mullerian hormone |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr20:56,785,960...56,788,815
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G |
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 chr20:56,893,479...56,932,460
Ensembl chr20:56,893,535...56,931,830
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G |
APC2 |
APC regulator of WNT signaling pathway 2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr20:57,380,472...57,395,249
Ensembl chr20:57,380,460...57,395,226
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G |
ATP8B3 |
ATPase phospholipid transporting 8B3 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr20:57,144,740...57,160,402
Ensembl chr20:57,148,281...57,160,347
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G |
BTBD2 |
BTB domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr20:56,999,749...57,008,283
Ensembl chr20:57,000,016...57,007,467
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G |
C20H19orf25 |
chromosome 20 C19orf25 homolog |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr20:57,376,356...57,380,511
Ensembl chr20:57,377,059...57,379,453
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G |
CSNK1G2 |
casein kinase 1 gamma 2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr20:57,015,019...57,042,269
Ensembl chr20:57,015,614...57,040,694
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G |
DIRAS1 |
DIRAS family GTPase 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr20:56,469,283...56,477,314
Ensembl chr20:56,474,105...56,474,701
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G |
DOT1L |
DOT1 like histone lysine methyltransferase |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr20:56,805,030...56,868,771
Ensembl chr20:56,803,242...56,852,539
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G |
GADD45B |
growth arrest and DNA damage inducible beta |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr20:56,627,915...56,629,960
Ensembl chr20:56,628,485...56,629,730
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G |
GNA11 |
G protein subunit alpha 11 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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G |
GNG7 |
G protein subunit gamma 7 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr20:56,479,337...56,603,972
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G |
IZUMO4 |
IZUMO family member 4 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr20:56,933,644...56,936,171
Ensembl chr20:56,933,646...56,936,163
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G |
KLF16 |
KLF transcription factor 16 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
|
NCBI chr20:57,102,968...57,110,795
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G |
LINGO3 |
leucine rich repeat and Ig domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr20:56,755,986...56,757,919
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G |
LMNB2 |
lamin B2 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar OMIM |
PMID:9536098 PMID:16826530 PMID:17576681 PMID:22768673 PMID:22995991 PMID:25741868 PMID:25954030 PMID:26467025 PMID:27535533 PMID:28166811 PMID:28492532 PMID:28641778 PMID:32041611 PMID:32355288 PMID:32766464 More...
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NCBI chr20:56,652,183...56,663,476
Ensembl chr20:56,652,750...56,670,278
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G |
LOC100686484 |
zinc finger protein 77 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr20:56,209,776...56,231,650
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G |
LOC111091403 |
zinc finger protein 555 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr20:56,374,728...56,376,612
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G |
LSM7 |
LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
|
NCBI chr20:56,730,476...56,735,115
Ensembl chr20:56,730,486...56,735,112
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G |
MBD3 |
methyl-CpG binding domain protein 3 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr20:57,296,713...57,312,988
Ensembl chr20:57,296,713...57,307,110
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G |
MEX3D |
mex-3 RNA binding family member D |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr20:57,317,232...57,323,854
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G |
MKNK2 |
MAPK interacting serine/threonine kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr20:56,966,656...56,978,414
Ensembl chr20:56,965,800...56,974,073
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G |
MOB3A |
MOB kinase activator 3A |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr20:56,940,743...56,951,906
Ensembl chr20:56,940,618...56,950,841
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G |
OAZ1 |
ornithine decarboxylase antizyme 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
|
NCBI chr20:56,769,317...56,770,921
Ensembl chr20:56,769,319...56,770,930
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G |
ONECUT3 |
one cut homeobox 3 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr20:57,161,598...57,181,840
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G |
PCSK4 |
proprotein convertase subtilisin/kexin type 4 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr20:57,370,035...57,376,207
Ensembl chr20:57,369,328...57,375,590
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G |
PEAK3 |
PEAK family member 3 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr20:56,763,966...56,768,210
Ensembl chr20:56,762,791...56,767,223
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G |
PLEKHJ1 |
pleckstrin homology domain containing J1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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G |
PLK5 |
polo like kinase 5 (inactive) |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr20:57,337,808...57,343,993
Ensembl chr20:57,337,874...57,343,945
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G |
REEP6 |
receptor accessory protein 6 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr20:57,364,419...57,370,069
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G |
REXO1 |
RNA exonuclease 1 homolog |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr20:57,117,756...57,141,628
Ensembl chr20:57,130,460...57,140,889
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G |
SCAMP4 |
secretory carrier membrane protein 4 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr20:57,047,022...57,061,274
Ensembl chr20:57,048,026...57,063,245
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G |
SF3A2 |
splicing factor 3a subunit 2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr20:56,789,450...56,796,004
Ensembl chr20:56,788,577...56,795,262
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G |
SGTA |
small glutamine rich tetratricopeptide repeat co-chaperone alpha |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr20:56,432,688...56,451,438
Ensembl chr20:56,441,724...56,450,215
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G |
SLC39A3 |
solute carrier family 39 member 3 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr20:56,458,318...56,464,099
Ensembl chr20:56,458,035...56,463,922
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G |
SPPL2B |
signal peptide peptidase like 2B |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr20:56,714,306...56,730,388
Ensembl chr20:56,712,390...56,757,938
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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 chr20:57,255,091...57,284,223
Ensembl chr20:57,254,384...57,283,981
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G |
THOP1 |
thimet oligopeptidase 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr20:56,412,578...56,432,480
Ensembl chr20:56,412,908...56,432,446
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G |
TIMM13 |
translocase of inner mitochondrial membrane 13 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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G |
TLE2 |
TLE family member 2, transcriptional corepressor |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr20:56,138,654...56,157,625
Ensembl chr20:56,137,746...56,157,583
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G |
TLE5 |
TLE family member 5, transcriptional modulator |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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G |
TLE6 |
TLE family member 6, subcortical maternal complex member |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr20:56,159,045...56,169,740
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G |
TMPRSS9 |
transmembrane serine protease 9 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr20:56,666,201...56,694,655
Ensembl chr20:56,676,936...56,686,218
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G |
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 chr20:57,289,122...57,291,334
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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 chr20:56,363,551...56,393,821
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G |
ZNF556 |
zinc finger protein 556 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr20:56,333,136...56,357,075
Ensembl chr20:56,336,162...56,347,541
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G |
ASAH1 |
N-acylsphingosine amidohydrolase 1 |
|
ISO |
ClinVar Annotator: match by term: Hereditary myoclonus and progressive distal muscular atrophy | ClinVar Annotator: match by term: MYOCLONUS, HEREDITARY, WITH PROGRESSIVE DISTAL MUSCULAR ATROPHY | ClinVar Annotator: match by term: Spinal muscular atrophy with progressive myoclonic epilepsy |
OMIM ClinVar |
PMID:16199547 PMID:22703880 PMID:24033266 PMID:24164096 PMID:24355074 PMID:25326635 PMID:25578555 PMID:25741868 PMID:25847462 PMID:26467025 PMID:26526000 PMID:27026573 PMID:27411168 PMID:27723502 PMID:28251733 PMID:28492532 PMID:28733637 PMID:29169047 PMID:29358611 PMID:30291339 PMID:32449975 PMID:34240417 More...
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NCBI chr16:41,297,215...41,335,521
Ensembl chr16:41,297,809...41,323,078
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G |
CSTB |
cystatin B |
|
ISO |
ClinVar Annotator: match by term: Unverricht-Lundborg syndrome |
OMIM ClinVar |
PMID:8596935 PMID:9012407 PMID:9054946 PMID:9342192 PMID:9360639 PMID:11814737 PMID:15329070 PMID:15483648 PMID:16155205 PMID:17003839 PMID:17920138 PMID:18028412 PMID:18925453 PMID:20078424 PMID:21757863 PMID:22154554 PMID:22936898 PMID:23205931 PMID:25741868 PMID:26467025 PMID:26843564 PMID:28492532 PMID:29358611 PMID:29915382 PMID:31440721 PMID:32581362 PMID:35478072 PMID:37541188 PMID:38247861 More...
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