|
G |
Adsl |
adenylosuccinate lyase |
|
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...
|
|
NCBI chr 7:114,359,440...114,383,618
|
|
G |
Atp2b2 |
ATPase plasma membrane Ca2+ transporting 2 |
|
ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
|
NCBI chr 4:146,894,602...147,208,060
|
|
G |
Brk1 |
BRICK1 subunit of SCAR/WAVE actin nucleating complex |
|
ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
|
NCBI chr 4:146,750,821...146,766,050
|
|
G |
Chd2 |
chromodomain helicase DNA binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy |
ClinVar |
|
|
NCBI chr 1:136,597,993...136,726,874
|
|
G |
Chrna2 |
cholinergic receptor nicotinic alpha 2 subunit |
|
ISO |
ClinVar Annotator: match by term: myoclonic epilepsy |
ClinVar |
PMID:28492532 |
|
NCBI chr15:44,517,862...44,534,144
|
|
G |
Cstb |
cystatin B |
|
ISO |
ClinVar Annotator: match by term: Myoclonus epilepsy |
ClinVar |
PMID:8596935 PMID:9054946 PMID:9342192 PMID:15329070 PMID:15483648 PMID:16155205 PMID:17920138 PMID:18028412 PMID:18925453 PMID:20078424 PMID:21757863 PMID:22936898 PMID:25741868 PMID:26467025 PMID:26843564 PMID:28492532 PMID:29358611 More...
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|
NCBI chr20:10,245,462...10,247,505
|
|
G |
Epm2a |
EPM2A glucan phosphatase, laforin |
|
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 1:5,727,111...5,845,338
|
|
G |
Fancd2 |
FA complementation group D2 |
|
ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
|
NCBI chr 4:148,234,633...148,299,035
|
|
G |
Fancd2os |
FANCD2 opposite strand |
|
ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
|
NCBI chr 4:146,740,863...146,747,547
|
|
G |
Ghrl |
ghrelin and obestatin prepropeptide |
|
ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
|
NCBI chr 4:146,865,712...146,869,621
|
|
G |
Gosr2 |
golgi SNAP receptor complex member 2 |
|
ISO |
ClinVar Annotator: match by term: Myoclonus epilepsy |
ClinVar |
PMID:16199547 PMID:21549339 PMID:25326637 PMID:25741868 PMID:28492532 PMID:31440721 PMID:34167170 PMID:37895210 More...
|
|
NCBI chr10:89,085,323...89,105,665
|
|
G |
Hnrnpu |
heterogeneous nuclear ribonucleoprotein U |
|
ISO |
ClinVar Annotator: match by term: Myoclonic absence seizure |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr13:92,609,791...92,618,580
|
|
G |
Irak2 |
interleukin-1 receptor-associated kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
|
NCBI chr 4:148,341,704...148,398,211
|
|
G |
Kcnb1 |
potassium voltage-gated channel subfamily B member 1 |
|
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...
|
|
NCBI chr 3:176,239,285...176,332,408
|
|
G |
Lmnb2 |
lamin B2 |
|
ISO |
ClinVar Annotator: match by term: Generalized myoclonic seizures |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:8,792,628...8,808,665
|
|
G |
Mt-nd6 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 |
|
ISO |
DNA:missense mutation: :m.14487T>C (p.M63V) (human) |
RGD |
PMID:20019223 |
RGD:6482231 |
|
|
G |
Pmp22 |
peripheral myelin protein 22 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17275665 |
|
NCBI chr10:48,294,932...48,324,941
|
|
G |
Pomc |
proopiomelanocortin |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:6088243 |
|
NCBI chr 6:32,659,137...32,665,175
|
|
G |
Prickle2 |
prickle planar cell polarity protein 2 |
|
ISO |
ClinVar Annotator: match by term: Myoclonus epilepsy | ClinVar Annotator: match by term: myoclonic epilepsy |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 |
|
NCBI chr 4:124,869,655...125,214,862
|
|
G |
Prmt7 |
protein arginine methyltransferase 7 |
|
ISO |
ClinVar Annotator: match by term: Generalized myoclonic seizures |
ClinVar |
PMID:25741868 PMID:33085104 |
|
NCBI chr19:34,110,724...34,161,531
|
|
G |
Rapgef2 |
Rap guanine nucleotide exchange factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29507423 |
|
NCBI chr 2:164,207,513...164,322,157
|
|
G |
Samd12 |
sterile alpha motif domain containing 12 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29507423 |
|
NCBI chr 7:86,658,709...86,953,879
|
|
G |
Scarb2 |
scavenger receptor class B, member 2 |
|
ISO |
ClinVar Annotator: match by term: Myoclonus epilepsy |
ClinVar |
PMID:18308289 PMID:25741868 PMID:26467025 PMID:26836416 PMID:28492532 PMID:29261713 PMID:29358611 More...
|
|
NCBI chr14:15,558,271...15,609,813
|
|
G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Myoclonic encephalopathy | ClinVar Annotator: match by term: myoclonic epilepsy |
CTD ClinVar |
PMID:12907273 PMID:17347258 PMID:19099883 PMID:21480876 PMID:28492532 PMID:29929108 PMID:30123852 PMID:35571373 More...
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|
NCBI chr 3:71,360,840...71,479,870
|
|
G |
Sec13 |
SEC13 homolog, nuclear pore and COPII coat complex component |
|
ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
|
NCBI chr 4:148,433,344...148,446,735
|
|
G |
Sema6b |
semaphorin 6B |
|
ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:950,939...967,905
|
|
G |
Slc2a1 |
solute carrier family 2 member 1 |
|
ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:138,002,522...138,030,742
|
|
G |
Slc6a1 |
solute carrier family 6 member 1 |
|
ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy | ClinVar Annotator: match by term: Myoclonus epilepsy |
ClinVar |
PMID:9536098 PMID:14744863 PMID:15496410 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19344873 PMID:22495306 PMID:24859339 PMID:25363768 PMID:25741868 PMID:25865495 PMID:26467025 PMID:26716362 PMID:27541642 PMID:27824329 PMID:27959697 PMID:28135719 PMID:28191889 PMID:28213519 PMID:28492532 PMID:28708303 PMID:28856709 PMID:29315614 PMID:29358611 PMID:29933521 PMID:29961511 PMID:30132828 PMID:30525188 PMID:31031587 PMID:31176687 PMID:31273778 PMID:31302675 PMID:31332282 PMID:31401500 PMID:31780880 PMID:31785789 PMID:31981491 PMID:32005694 PMID:32581362 PMID:32660967 PMID:32913952 PMID:33004838 PMID:33961861 PMID:34006619 PMID:34028503 PMID:34489640 PMID:34653234 PMID:35701389 PMID:35761184 PMID:36674476 PMID:36895422 PMID:37700749 More...
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|
NCBI chr 4:147,448,961...147,482,295
|
|
G |
Slc6a11 |
solute carrier family 6 member 11 |
|
ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
|
NCBI chr 4:147,297,972...147,413,319
|
|
G |
Slc7a6os |
solute carrier family 7, member 6 opposite strand |
|
ISO |
ClinVar Annotator: match by term: Generalized myoclonic seizures |
ClinVar |
PMID:25741868 PMID:33085104 |
|
NCBI chr19:34,101,978...34,110,666
|
|
G |
St3gal3 |
ST3 beta-galactoside alpha-2,3-sialyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Generalized myoclonic seizures |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 5:131,470,348...131,670,794
|
|
G |
Stxbp1 |
syntaxin binding protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18469812 PMID:29929108 |
|
NCBI chr 3:16,076,725...16,138,431
|
|
G |
Tatdn2 |
TatD DNase domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
|
NCBI chr 4:146,845,156...146,865,708
|
|
G |
Tnrc6a |
trinucleotide repeat containing adaptor 6A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29507423 |
|
NCBI chr 1:186,992,457...187,146,764
|
|
G |
Vhl |
von Hippel-Lindau tumor suppressor |
|
ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
|
NCBI chr 4:146,772,483...146,779,376
|
|
|
G |
Atn1 |
atrophin 1 |
|
ISO |
ClinVar Annotator: match by term: Dentatorubral-pallidoluysian atrophy |
OMIM ClinVar |
PMID:25741868 |
|
NCBI chr 4:157,554,287...157,568,092
|
|
|
G |
Pidd1 |
p53-induced death domain protein 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 3 |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:205,966,392...205,972,359
|
|
G |
Slc25a22 |
solute carrier family 25 member 22 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 3 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 3 |
OMIM CTD ClinVar |
PMID:15592994 PMID:18414213 PMID:19780765 PMID:24596948 PMID:25033742 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31589614 More...
|
|
NCBI chr 1:205,954,713...205,966,188
|
|
|
G |
Brat1 |
BRCA1-associated ATM activator 1 |
|
ISO |
ClinVar Annotator: match by term: Dravet syndrome |
ClinVar |
PMID:22279524 PMID:25500575 PMID:25741868 PMID:28492532 PMID:29390993 |
|
NCBI chr12:13,928,889...13,951,760
|
|
G |
Cgn |
cingulin |
|
ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:25894286 PMID:28492532 |
|
NCBI chr 2:182,308,389...182,335,747
|
|
G |
Gabrg2 |
gamma-aminobutyric acid type A receptor subunit gamma 2 |
|
ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
|
|
NCBI chr10:26,876,926...26,965,523
|
|
G |
Lysmd1 |
LysM domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:185,394,145...185,403,475
|
|
G |
Pi4kb |
phosphatidylinositol 4-kinase beta |
|
ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:185,229,392...185,261,697
|
|
G |
Pip5k1a |
phosphatidylinositol-4-phosphate 5-kinase, type 1, alpha |
|
ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:185,317,319...185,361,859
|
|
G |
Pogz |
pogo transposable element derived with ZNF domain |
|
ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:25894286 PMID:28492532 |
|
NCBI chr 2:185,069,492...185,129,741
|
|
G |
Psmb4 |
proteasome 20S subunit beta 4 |
|
ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:25894286 PMID:28492532 |
|
NCBI chr 2:182,442,757...182,445,532
|
|
G |
Psmd4 |
proteasome 26S subunit ubiquitin receptor, non-ATPase 4 |
|
ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:185,287,941...185,297,238
|
|
G |
Rfx5 |
regulatory factor X5 |
|
ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:25894286 PMID:28492532 |
|
NCBI chr 2:182,521,191...182,528,720
|
|
G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
|
ISO ISS |
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:607208 |
OMIM ClinVar MouseDO |
PMID:1893009 PMID:1893099 PMID:9536098 PMID:9573403 PMID:10486327 PMID:10521305 PMID:10742094 PMID:11118488 PMID:11254444 PMID:11254445 PMID:11359211 PMID:11524484 PMID:11567038 PMID:11823106 PMID:11940708 PMID:12083760 PMID:12086636 PMID:12566275 PMID:12610651 PMID:12754708 PMID:12821740 PMID:12919402 PMID:14504318 PMID:14672992 PMID:14702334 PMID:14738421 PMID:15087100 PMID:15263074 PMID:15277629 PMID:15508916 PMID:16054936 PMID:16199547 PMID:16210358 PMID:16326807 PMID:16359470 PMID:16380441 PMID:16458823 PMID:16525050 PMID:16541393 PMID:16713913 PMID:16713920 PMID:17000989 PMID:17054684 PMID:17054685 PMID:17166794 PMID:17347258 PMID:17507202 PMID:17537961 PMID:17561957 PMID:17576681 PMID:17903680 PMID:17928445 PMID:18021921 PMID:18031552 PMID:18056581 PMID:18076640 PMID:18413471 PMID:18414213 PMID:18554359 PMID:18566737 PMID:18621678 PMID:18632931 PMID:18680191 PMID:18755274 PMID:18804930 PMID:18930999 PMID:19200853 PMID:19220312 PMID:19236456 PMID:19332696 PMID:19350499 PMID:19359143 PMID:19522081 PMID:19563349 PMID:19563458 PMID:19585586 PMID:19586930 PMID:19589774 PMID:19673951 PMID:19782004 PMID:19809937 PMID:20100831 PMID:20110217 PMID:20117752 PMID:20301494 PMID:20301562 PMID:20431604 PMID:20452746 PMID:20491869 PMID:20522430 PMID:20550552 PMID:20562086 PMID:20600615 PMID:20729507 PMID:20831750 PMID:20879882 PMID:21248271 PMID:21371021 PMID:21396429 PMID:21425109 PMID:21555645 PMID:21703448 PMID:21713554 PMID:21719429 PMID:21753172 PMID:21864321 PMID:21868258 PMID:21906962 PMID:22050978 PMID:22071555 PMID:22092154 PMID:22140375 PMID:22147323 PMID:22150645 PMID:22151702 PMID:22156295 PMID:22409937 PMID:22525008 PMID:22550089 PMID:22612257 PMID:22780858 PMID:22848613 PMID:22944210 PMID:23086956 PMID:23195492 PMID:23398611 PMID:23527921 PMID:23662938 PMID:23708187 PMID:23762420 PMID:23773995 PMID:23808377 PMID:23821540 PMID:23884151 PMID:23895530 PMID:23917401 PMID:23934111 PMID:23945787 PMID:24066114 PMID:24136861 PMID:24155976 PMID:24168886 PMID:24277604 PMID:24328833 PMID:24412860 PMID:24502503 PMID:24656210 PMID:24679980 PMID:24776920 PMID:25206388 PMID:25243660 PMID:25326635 PMID:25348405 PMID:25378155 PMID:25401298 PMID:25459968 PMID:25459969 PMID:25525159 PMID:25576396 PMID:25590135 PMID:25669891 PMID:25741868 PMID:25741869 PMID:25754450 PMID:25818041 PMID:25885068 PMID:25986186 PMID:26096185 PMID:26169758 PMID:26188943 PMID:26232052 PMID:26236192 PMID:26394714 PMID:26467025 PMID:26544041 PMID:26633542 PMID:26699486 PMID:26763045 PMID:26845707 PMID:26990884 PMID:26993267 PMID:27066544 PMID:27113213 PMID:27197941 PMID:27231140 PMID:27236449 PMID:27267376 PMID:27457812 PMID:27465585 PMID:27582020 PMID:27652284 PMID:27781031 PMID:27864847 PMID:27919014 PMID:27959697 PMID:28012175 PMID:28074849 PMID:28079314 PMID:28084635 PMID:28102150 PMID:28148630 PMID:28150151 PMID:28186331 PMID:28192756 PMID:28202706 PMID:28387369 PMID:28488083 PMID:28492532 PMID:28518168 PMID:28544625 PMID:28554332 PMID:28664031 PMID:28708303 PMID:28794249 PMID:28837158 PMID:28864458 PMID:29056246 PMID:29100083 PMID:29141279 PMID:29141311 PMID:29142202 PMID:29145747 PMID:29186148 PMID:29190809 PMID:29314583 PMID:29358611 PMID:29408779 PMID:29460957 PMID:29655203 PMID:29745119 PMID:29760947 PMID:29852413 PMID:29930392 PMID:29933521 PMID:29948376 PMID:29981888 PMID:30034362 PMID:30142967 PMID:30146492 PMID:30182498 PMID:30185235 PMID:30258939 PMID:30311386 PMID:30321769 PMID:30368457 PMID:30498473 PMID:30525188 PMID:30526861 PMID:30577886 PMID:30619928 PMID:30659983 PMID:30735520 PMID:30779207 PMID:30805006 PMID:30868114 PMID:30921204 PMID:30945278 PMID:31001185 PMID:31009440 PMID:31019026 PMID:31031587 PMID:31054490 PMID:31069529 PMID:31102827 PMID:31139143 PMID:31164858 PMID:31439038 PMID:31440721 PMID:31487502 PMID:31618474 PMID:31730442 PMID:31755124 PMID:31765958 PMID:31780880 PMID:31782251 PMID:31791873 PMID:31864146 PMID:31875159 PMID:31880072 PMID:32056211 PMID:32090326 PMID:32238909 PMID:32461654 PMID:32488064 PMID:32538476 PMID:32573669 PMID:32581296 PMID:32581362 PMID:32593896 PMID:32613771 PMID:32702657 PMID:32845893 PMID:33067208 PMID:33084218 PMID:33278787 PMID:33391346 PMID:33411788 PMID:33674996 PMID:34015165 PMID:34107977 PMID:34163418 PMID:34174751 PMID:34268891 PMID:34338318 PMID:34379890 PMID:34489640 PMID:34539730 PMID:34917021 PMID:35072530 PMID:35074891 PMID:35087721 PMID:35571373 PMID:35627257 PMID:35663268 PMID:35696452 PMID:35886038 PMID:36158059 PMID:36229510 PMID:36287100 PMID:36684540 PMID:36820031 PMID:37524782 PMID:39033378 More...
|
|
NCBI chr 3:71,360,840...71,479,870
|
|
G |
Scn1b |
sodium voltage-gated channel beta subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:95,481,298...95,491,211
|
|
G |
Scn2a |
sodium voltage-gated channel alpha subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
|
|
NCBI chr 3:70,710,862...70,845,569
|
|
G |
Scn9a |
sodium voltage-gated channel alpha subunit 9 |
|
ISO |
ClinVar Annotator: match by term: Dravet syndrome | ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:19763161 PMID:21698661 PMID:22136189 PMID:23280954 PMID:23895530 PMID:25250524 PMID:25741868 PMID:25993546 PMID:26264438 PMID:26467025 PMID:26675522 PMID:26920677 PMID:28235406 PMID:28440294 PMID:28492532 PMID:29264398 PMID:29911575 PMID:30316835 PMID:30672368 PMID:37003485 More...
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NCBI chr 3:71,553,185...71,701,377
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G |
Selenbp1 |
selenium binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:25894286 PMID:28492532 |
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NCBI chr 2:182,494,004...182,504,594
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G |
Snx27 |
sorting nexin 27 |
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ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:25894286 PMID:28492532 PMID:31957018 More...
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NCBI chr 2:182,135,904...182,218,906
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G |
Tmod4 |
tropomodulin 4 |
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ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:182,695,709...182,700,540
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G |
Tnfaip8l2 |
TNF alpha induced protein 8 like 2 |
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ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:182,710,433...182,726,724
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G |
Tuft1 |
tuftelin 1 |
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ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:25894286 PMID:28492532 |
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NCBI chr 2:184,949,437...184,995,321
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G |
Vps72 |
vacuolar protein sorting 72 homolog |
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ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:185,367,329...185,379,199
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G |
Zfp687 |
zinc finger protein 687 |
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ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:182,572,893...182,581,641
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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 chr10:13,757,884...13,783,669
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G |
Diras1 |
DIRAS family GTPase 1 |
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ISO |
Epilepsy, generalized myoclonic, with photosensitivity |
OMIA |
PMID:28223533 PMID:29194766 PMID:38003185 |
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NCBI chr 7:8,687,964...8,692,828
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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 chr20:21,051,270...21,056,322
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G |
Jmjd1c |
jumonji domain containing 1C |
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ISO |
ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22495311 PMID:25741868 PMID:26181491 PMID:28166811 PMID:28492532 PMID:31785789 PMID:31954878 More...
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NCBI chr20:21,330,990...21,508,580
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G |
Kcnd2 |
potassium voltage-gated channel subfamily D member 2 |
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ISO |
ClinVar Annotator: match by term: Early myoclonic encephalopathy ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19171772 PMID:24501278 PMID:25214526 PMID:25640679 PMID:25741868 PMID:28166811 PMID:28492532 PMID:29581270 PMID:30571183 PMID:31130284 PMID:34245260 PMID:35510384 PMID:35897654 More...
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NCBI chr 4:49,775,812...50,277,746
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G |
Kit |
KIT proto-oncogene receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr14:32,901,615...32,978,895
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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 chr20:21,308,555...21,326,881
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G |
Opa1 |
OPA1, mitochondrial dynamin like GTPase |
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ISO |
ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile |
ClinVar |
PMID:25326637 PMID:28492532 |
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NCBI chr11:84,612,943...84,690,025
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G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe |
ClinVar |
PMID:1893099 PMID:9536098 PMID:9573403 PMID:10486327 PMID:10521305 PMID:10742094 PMID:11118488 PMID:11254444 PMID:11254445 PMID:11359211 PMID:11524484 PMID:11567038 PMID:11823106 PMID:11940708 PMID:12083760 PMID:12086636 PMID:12566275 PMID:12610651 PMID:12754708 PMID:12821740 PMID:12919402 PMID:14504318 PMID:14672992 PMID:14702334 PMID:14738421 PMID:15263074 PMID:15277629 PMID:15508916 PMID:16199547 PMID:16210358 PMID:16359470 PMID:16380441 PMID:16458823 PMID:16525050 PMID:16541393 PMID:16713913 PMID:16713920 PMID:17054684 PMID:17054685 PMID:17166794 PMID:17347258 PMID:17507202 PMID:17537961 PMID:17561957 PMID:17576681 PMID:17903680 PMID:17928445 PMID:18021921 PMID:18031552 PMID:18056581 PMID:18076640 PMID:18413471 PMID:18414213 PMID:18554359 PMID:18566737 PMID:18621678 PMID:18755274 PMID:18804930 PMID:18930999 PMID:19200853 PMID:19220312 PMID:19236456 PMID:19332696 PMID:19350499 PMID:19359143 PMID:19522081 PMID:19563349 PMID:19563458 PMID:19585586 PMID:19586930 PMID:19589774 PMID:19673951 PMID:19782004 PMID:19809937 PMID:20100831 PMID:20110217 PMID:20117752 PMID:20301494 PMID:20301562 PMID:20431604 PMID:20452746 PMID:20522430 PMID:20550552 PMID:20562086 PMID:20600615 PMID:20729507 PMID:20879882 PMID:21248271 PMID:21371021 PMID:21396429 PMID:21425109 PMID:21555645 PMID:21703448 PMID:21713554 PMID:21719429 PMID:21864321 PMID:21868258 PMID:21906962 PMID:22050978 PMID:22071555 PMID:22092154 PMID:22140375 PMID:22147323 PMID:22150645 PMID:22151702 PMID:22156295 PMID:22409937 PMID:22525008 PMID:22550089 PMID:22612257 PMID:22780858 PMID:22848613 PMID:22944210 PMID:23086956 PMID:23195492 PMID:23398611 PMID:23527921 PMID:23662938 PMID:23708187 PMID:23762420 PMID:23808377 PMID:23821540 PMID:23884151 PMID:23895530 PMID:23917401 PMID:23934111 PMID:23945787 PMID:24066114 PMID:24136861 PMID:24155976 PMID:24168886 PMID:24277604 PMID:24328833 PMID:24412860 PMID:24502503 PMID:24656210 PMID:24679980 PMID:24776920 PMID:25206388 PMID:25243660 PMID:25326635 PMID:25348405 PMID:25378155 PMID:25401298 PMID:25459968 PMID:25459969 PMID:25525159 PMID:25576396 PMID:25590135 PMID:25669891 PMID:25741868 PMID:25754450 PMID:25818041 PMID:25885068 PMID:25986186 PMID:26096185 PMID:26169758 PMID:26188943 PMID:26232052 PMID:26236192 PMID:26467025 PMID:26544041 PMID:26633542 PMID:26699486 PMID:26763045 PMID:26845707 PMID:26990884 PMID:26993267 PMID:27066544 PMID:27113213 PMID:27197941 PMID:27231140 PMID:27236449 PMID:27267376 PMID:27465585 PMID:27652284 PMID:27781031 PMID:27864847 PMID:27959697 PMID:28012175 PMID:28074849 PMID:28079314 PMID:28084635 PMID:28102150 PMID:28148630 PMID:28150151 PMID:28186331 PMID:28192756 PMID:28202706 PMID:28387369 PMID:28488083 PMID:28492532 PMID:28518168 PMID:28544625 PMID:28554332 PMID:28590052 PMID:28664031 PMID:28708303 PMID:28794249 PMID:28837158 PMID:28864458 PMID:29056246 PMID:29100083 PMID:29141279 PMID:29141311 PMID:29142202 PMID:29145747 PMID:29186148 PMID:29190809 PMID:29314583 PMID:29358611 PMID:29408779 PMID:29460957 PMID:29655203 PMID:29745119 PMID:29760947 PMID:29852413 PMID:29930392 PMID:29933521 PMID:29948376 PMID:29981888 PMID:30034362 PMID:30146492 PMID:30182498 PMID:30185235 PMID:30258939 PMID:30311386 PMID:30321769 PMID:30368457 PMID:30498473 PMID:30525188 PMID:30526861 PMID:30577886 PMID:30619928 PMID:30659983 PMID:30779207 PMID:30805006 PMID:30868114 PMID:30921204 PMID:30945278 PMID:31001185 PMID:31009440 PMID:31019026 PMID:31031587 PMID:31054490 PMID:31069529 PMID:31164858 PMID:31440721 PMID:31487502 PMID:31618474 PMID:31730442 PMID:31755124 PMID:31765958 PMID:31780880 PMID:31782251 PMID:31791873 PMID:31864146 PMID:31875159 PMID:31880072 PMID:32056211 PMID:32090326 PMID:32238909 PMID:32461654 PMID:32538476 PMID:32573669 PMID:32581296 PMID:32581362 PMID:32593896 PMID:32613771 PMID:32702657 PMID:32845893 PMID:33067208 PMID:33084218 PMID:33278787 PMID:33391346 PMID:33411788 PMID:33674996 PMID:34015165 PMID:34107977 PMID:34163418 PMID:34268891 PMID:34338318 PMID:34379890 PMID:34489640 PMID:34539730 PMID:35072530 PMID:35074891 PMID:35087721 PMID:35571373 PMID:35627257 PMID:35663268 PMID:36158059 PMID:36287100 PMID:36684540 PMID:37524782 PMID:39033378 More...
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NCBI chr 3:71,360,840...71,479,870
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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:29264398 PMID:29911575 PMID:30316835 PMID:30672368 PMID:37003485 More...
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NCBI chr 3:71,553,185...71,701,377
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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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NCBI chr 1:205,954,713...205,966,188
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G |
Snx27 |
sorting nexin 27 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:182,135,904...182,218,906
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G |
Tbc1d24 |
TBC1 domain family, member 24 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile |
ClinVar |
PMID:18414213 PMID:22277662 PMID:23526554 PMID:24033266 PMID:24291220 PMID:24848745 PMID:25741868 PMID:25769375 PMID:26371875 PMID:26467025 PMID:27259978 PMID:27281533 PMID:28292732 PMID:28301460 PMID:28428906 PMID:28492532 PMID:28726039 PMID:28951997 PMID:29358611 PMID:30180405 PMID:30311386 PMID:30776697 PMID:31112829 PMID:31216405 PMID:32004315 PMID:33619735 More...
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NCBI chr10:13,205,819...13,236,013
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G |
Tspan12 |
tetraspanin 12 |
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ISO |
ClinVar Annotator: match by term: Early myoclonic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 4:50,313,768...50,389,246
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G |
Tuba1a |
tubulin, alpha 1A |
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ISO |
ClinVar Annotator: match by term: Early myoclonic encephalopathy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30744660 PMID:31833200 |
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NCBI chr 7:131,992,151...131,996,850
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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 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:25741868 |
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NCBI chr 7:86,658,709...86,953,879
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G |
Adra2b |
adrenoceptor alpha 2B |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 2 |
ClinVar |
PMID:25741868 PMID:27124789 PMID:27431290 PMID:31130284 PMID:37644014 |
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NCBI chr 3:114,585,174...114,589,220
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G |
Stard7 |
StAR-related lipid transfer domain containing 7 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 2 |
OMIM CTD ClinVar |
PMID:25741868 |
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NCBI chr 3:114,487,161...114,515,828
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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 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:25741868 |
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NCBI chr 2:82,455,686...82,532,917
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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 chr11:80,743,134...80,829,253
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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 chr13:48,411,438...48,431,251
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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 chr13:45,658,872...45,695,821
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G |
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 chr13:46,585,845...46,594,851
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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 chr13:47,491,799...47,493,269
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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 chr13:47,708,157...47,807,389
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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 chr13:43,046,531...43,059,046
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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 chr13:48,083,931...48,087,690
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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 chr13:47,493,949...47,564,194
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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 chr13:47,723,251...47,802,606
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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 chr13:46,107,763...46,140,705
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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 chr13:45,641,802...45,649,787
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G |
Chit1 |
chitinase 1 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr13:48,117,886...48,165,645
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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 chr13:43,942,868...43,975,973
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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 chr13:47,158,171...47,179,388
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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 chr13:43,091,954...43,114,509
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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 chr13:48,401,061...48,407,466
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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 chr13:47,876,258...47,901,214
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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 chr13:46,409,412...46,457,426
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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 chr13:45,146,383...45,157,082
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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 chr13:42,615,901...42,637,107
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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 chr13:49,242,265...49,247,102
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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 chr13:43,451,130...43,475,035
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G |
Etnk2 |
ethanolamine kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr13:47,362,964...47,381,100
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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 chr13:42,967,701...42,979,083
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G |
Fmod |
fibromodulin |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:45,493,517...45,504,134
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G |
Golt1a |
golgi transport 1A |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:44,760,356...44,773,123
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G |
Gpr25 |
G protein-coupled receptor 25 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:47,712,815...47,714,721
|
|
G |
Gpr37l1 |
G protein-coupled receptor 37-like 1 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:46,598,574...46,605,421
|
|
G |
Igfn1 |
immunoglobulin-like and fibronectin type III domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:47,395,618...47,427,506
|
|
G |
Ikbke |
inhibitor of nuclear factor kappa B kinase subunit epsilon |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:45,264,404...45,290,737
|
|
G |
Il10 |
interleukin 10 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:45,024,921...45,029,586
|
|
G |
Inava |
innate immunity activator |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:50,218,149...50,238,430
|
|
G |
Ipo9 |
importin 9 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:46,810,460...46,862,694
|
|
G |
Kdm5b |
lysine demethylase 5B |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:46,001,589...46,073,868
|
|
G |
Kif14 |
kinesin family member 14 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:50,478,646...50,542,256
|
|
G |
Kif21b |
kinesin family member 21B |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:47,576,129...47,626,112
|
|
G |
Kiss1 |
KiSS-1 metastasis-suppressor |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:44,775,106...44,780,707
|
|
G |
Klhdc8a |
kelch domain containing 8A |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:43,735,702...43,744,277
|
|
G |
Klhl12 |
kelch-like family member 12 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:45,899,913...45,933,648
|
|
G |
Lad1 |
ladinin 1 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:47,249,605...47,263,967
|
|
G |
Lax1 |
lymphocyte transmembrane adaptor 1 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:45,134,825...45,145,381
|
|
G |
Lemd1 |
LEM domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:43,631,705...43,697,765
|
|
G |
Lgr6 |
leucine-rich repeat-containing G protein-coupled receptor 6 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:46,424,382...46,544,074
|
|
G |
Lmod1 |
leiomodin 1 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:46,754,048...46,796,186
|
|
G |
Lrrn2 |
leucine rich repeat neuronal 2 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:44,321,944...44,382,454
|
|
G |
Mapkapk2 |
MAPK activated protein kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:45,066,027...45,112,326
|
|
G |
Mdm4 |
MDM4 regulator of p53 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:46,922,236...47,068,241
|
|
G |
Mfsd4a |
major facilitator superfamily domain containing 4A |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:43,469,488...43,510,467
|
|
G |
Mybph |
myosin binding protein H |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:45,653,156...45,660,893
|
|
G |
Myog |
myogenin |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:48,297,476...48,300,065
|
|
G |
Nav1 |
neuron navigator 1 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:46,866,972...47,119,368
|
|
G |
Nfasc |
neurofascin |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:43,997,223...44,183,863
|
|
G |
Nuak2 |
NUAK family kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:46,305,744...46,322,755
|
|
G |
Nucks1 |
nuclear casein kinase and cyclin-dependent kinase substrate 1 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:45,897,275...45,926,491
|
|
G |
Optc |
opticin |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:45,353,954...45,368,254
|
|
G |
Phlda3 |
pleckstrin homology-like domain, family A, member 3 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:47,193,250...47,196,335
|
|
G |
Pik3c2b |
phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:47,046,866...47,107,733
|
|
G |
Pkp1 |
plakophilin 1 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:47,309,607...47,357,432
|
|
G |
Plekha6 |
pleckstrin homology domain containing A6 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:44,614,740...44,754,951
|
|
G |
Pm20d1 |
peptidase M20 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:43,237,954...43,259,999
|
|
G |
Ppfia4 |
PTPRF interacting protein alpha 4 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:48,305,844...48,354,329
|
|
G |
Ppp1r12b |
protein phosphatase 1, regulatory subunit 12B |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:48,751,256...48,948,933
|
|
G |
Ppp1r15b |
protein phosphatase 1, regulatory subunit 15B |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:44,577,840...44,585,737
|
|
G |
Prelp |
proline and arginine rich end leucine rich repeat protein |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:45,368,407...45,391,480
|
|
G |
Ptpn7 |
protein tyrosine phosphatase, non-receptor type 7 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:46,570,904...46,584,048
|
|
G |
Rab29 |
RAB29, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:45,859,930...45,865,468
|
|
G |
Rabif |
RAB interacting factor |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:48,488,370...48,500,853
|
|
G |
Rassf5 |
Ras association domain family member 5 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:42,637,513...42,703,024
|
|
G |
Rbbp5 |
RB binding protein 5, histone lysine methyltransferase complex subunit |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:43,912,254...43,939,107
|
|
G |
Ren |
renin |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:47,348,312...47,359,539
|
|
G |
Rnpep |
arginyl aminopeptidase |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:46,699,458...46,717,829
|
|
G |
Shisa4 |
shisa family member 4 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:46,799,735...46,803,816
|
|
G |
Slc26a9 |
solute carrier family 26 member 9 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:43,177,806...43,205,450
|
|
G |
Slc41a1 |
solute carrier family 41 member 1 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:45,822,999...45,843,364
|
|
G |
Slc45a3 |
solute carrier family 45, member 3 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:43,407,293...43,427,588
|
|
G |
Snrpe |
small nuclear ribonucleoprotein polypeptide E |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:45,050,986...45,057,231
|
|
G |
Sox13 |
SRY-box transcription factor 13 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:44,831,097...44,875,522
|
|
G |
Srgap2 |
SLIT-ROBO Rho GTPase activating protein 2 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:42,745,956...42,967,091
|
|
G |
Syt2 |
synaptotagmin 2 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:46,088,046...46,197,976
|
|
G |
Timm17a |
translocase of inner mitochondrial membrane 17A |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:46,731,117...46,742,604
|
|
G |
Tmcc2 |
transmembrane and coiled-coil domain family 2 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:43,794,029...43,831,716
|
|
G |
Tmem183a |
transmembrane protein 183A |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:45,803,641...45,820,409
|
|
G |
Tmem81 |
transmembrane protein 81 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:43,939,677...43,942,108
|
|
G |
Tmem9 |
transmembrane protein 9 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:50,008,829...50,027,556
|
|
G |
Tnni1 |
troponin I1, slow skeletal type |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:47,229,217...47,241,640
|
|
G |
Tnnt2 |
troponin T2, cardiac type |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:49,819,123...49,837,125
|
|
G |
Ube2t |
ubiquitin-conjugating enzyme E2T |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:46,403,352...46,413,854
|
|
G |
Zbed6 |
zinc finger, BED-type containing 6 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:45,107,253...45,113,524
|
|
G |
Zc3h11a |
zinc finger CCCH-type containing 11A |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:45,073,422...45,113,901
|
|
|
G |
Tnrc6a |
trinucleotide repeat containing adaptor 6A |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 6 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 1:186,992,457...187,146,764
|
|
|
G |
Rapgef2 |
Rap guanine nucleotide exchange factor 2 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 7 |
OMIM ClinVar |
PMID:25741868 |
|
NCBI chr 2:164,207,513...164,322,157
|
|
|
G |
Pdcd10 |
programmed cell death 10 |
|
ISO |
ClinVar Annotator: match by term: Encephalopathy, familial, with Collins bodies | ClinVar Annotator: match by term: Familial encephalopathy with neuroserpin inclusion bodies |
ClinVar |
PMID:15543491 PMID:18300272 PMID:23801932 PMID:25741868 PMID:28492532 |
|
NCBI chr 2:160,303,465...160,346,086
|
|
G |
Serpinb7 |
serpin family B member 7 |
|
ISO |
|
RGD |
PMID:16782060 |
RGD:7207386 |
NCBI chr13:23,369,830...23,442,205
|
|
G |
Serpini1 |
serpin family I member 1 |
|
ISO ISS |
ClinVar Annotator: match by term: Encephalopathy, familial, with Collins bodies | ClinVar Annotator: match by term: Familial encephalopathy with neuroserpin inclusion bodies OMIM:604218 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:11138927 PMID:11880376 PMID:12103288 PMID:15090543 PMID:15543491 PMID:16199547 PMID:17576681 PMID:18300272 PMID:18591508 PMID:18940798 PMID:19549782 PMID:21435071 PMID:23801932 PMID:23814041 PMID:25401298 PMID:25741868 PMID:26367528 PMID:26467025 PMID:28363799 PMID:28492532 PMID:28518168 PMID:28631894 PMID:29249370 PMID:32461654 More...
|
|
NCBI chr 2:160,346,403...160,433,135
|
|
|
G |
Clcn2 |
chloride voltage-gated channel 2 |
susceptibility |
ISO |
ClinVar Annotator: match by term: EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 11 |
ClinVar OMIM |
PMID:1521363 PMID:12612585 PMID:15252188 PMID:15505175 PMID:16199547 PMID:16932951 PMID:17567819 PMID:17762171 PMID:19191339 PMID:19200853 PMID:19710712 PMID:19861545 PMID:21703448 PMID:23542698 PMID:23632988 PMID:23707145 PMID:25741868 PMID:25907736 PMID:28488083 PMID:28492532 PMID:29403011 PMID:31589614 PMID:32906206 More...
|
|
NCBI chr11:80,197,741...80,211,657
|
|
|
G |
Gabra1 |
gamma-aminobutyric acid type A receptor subunit alpha 1 |
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...
|
|
NCBI chr10:27,096,731...27,152,563
|
|
|
G |
Chrna7 |
cholinergic receptor nicotinic alpha 7 subunit |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7 |
ClinVar |
PMID:25326635 PMID:25741868 |
|
NCBI chr 1:126,123,425...126,249,181
|
|
G |
Efhc1 |
EF-hand domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 9:23,375,815...23,414,283
|
|
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 chr 3:70,554,496...70,666,198
|
|
|
G |
Brd2 |
bromodomain containing 2 |
|
ISO |
DNA:SNPs:promoter (human) |
RGD |
PMID:12830434 |
RGD:1358444 |
NCBI chr20:4,728,282...4,737,286
|
|
G |
Cacna1g |
calcium voltage-gated channel subunit alpha1 G |
|
ISO |
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy |
ClinVar |
|
|
NCBI chr10:79,851,886...79,919,926
|
|
G |
Cacnb4 |
calcium voltage-gated channel auxiliary subunit beta 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Juvenile myoclonic epilepsy |
CTD ClinVar |
PMID:10762541 PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chr 3:36,906,771...37,169,165
|
|
G |
Caprin1 |
cell cycle associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy |
ClinVar |
PMID:25741868 PMID:35979925 |
|
NCBI chr 3:90,152,305...90,230,447
|
|
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 chr 3:78,862,286...78,877,353
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G |
Efhc1 |
EF-hand domain containing 1 |
susceptibility |
ISO ISS |
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:254770 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:8737649 PMID:9536098 PMID:12439895 PMID:15258581 PMID:16199547 PMID:16839746 PMID:17054699 PMID:17159113 PMID:17576681 PMID:17634063 PMID:18414213 PMID:18505993 PMID:18823326 PMID:20981092 PMID:22226147 PMID:22690745 PMID:22727576 PMID:22926142 PMID:23527921 PMID:24965021 PMID:25108116 PMID:25326635 PMID:25489633 PMID:25625532 PMID:25741868 PMID:26467025 PMID:27467453 PMID:28370826 PMID:28492532 PMID:29750216 PMID:34426522 More...
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NCBI chr 9:23,375,815...23,414,283
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G |
Gabra1 |
gamma-aminobutyric acid type A receptor subunit alpha 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Juvenile myoclonic epilepsy |
CTD ClinVar |
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NCBI chr10:27,096,731...27,152,563
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G |
Hsd17b3 |
hydroxysteroid (17-beta) dehydrogenase 3 |
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ISO |
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy |
ClinVar |
PMID:27899157 PMID:28492532 PMID:33468338 PMID:35432193 PMID:36110220 PMID:37741351 More...
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NCBI chr17:1,027,229...1,058,554
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G |
Jrk |
Jrk helix-turn-helix protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11463517 |
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NCBI chr 7:106,590,662...106,595,345
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G |
Cilk1 |
ciliogenesis associated kinase 1 |
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ISO |
ClinVar Annotator: match by term: CILK1-related condition |
ClinVar OMIM |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:87,868,294...87,922,995
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G |
Epm2a |
EPM2A glucan phosphatase, laforin |
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ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Lafora disease OMIM:254780 |
CTD ClinVar MouseDO |
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 1:5,727,111...5,845,338
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G |
Nhlrc1 |
NHL repeat containing E3 ubiquitin protein ligase 1 |
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ISS ISO |
OMIM:254780 ClinVar Annotator: match by term: Epilepsy progressive myoclonic 2 | ClinVar Annotator: match by term: Lafora disease |
MouseDO ClinVar |
PMID:12958597 PMID:12960212 PMID:15781812 PMID:15930137 PMID:16021330 PMID:16134145 PMID:16190947 PMID:16311711 PMID:16529633 PMID:16950819 PMID:17389303 PMID:17952067 PMID:18029386 PMID:18256682 PMID:18263761 PMID:18311786 PMID:18414213 PMID:19267391 PMID:19322595 PMID:19744044 PMID:20301563 PMID:20738377 PMID:21505799 PMID:22047982 PMID:22815132 PMID:23317923 PMID:23806086 PMID:24452334 PMID:25270369 PMID:25401298 PMID:25667860 PMID:25683376 PMID:25741868 PMID:26467025 PMID:27054081 PMID:27194917 PMID:28492532 PMID:28556688 PMID:29431110 PMID:29588937 PMID:29655203 PMID:29899791 PMID:30701169 PMID:31227012 PMID:31758957 PMID:31858178 PMID:32587944 More...
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NCBI chr17:17,674,303...17,677,144
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G |
Tpmt |
thiopurine S-methyltransferase |
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ISO |
ClinVar Annotator: match by term: Lafora disease |
ClinVar |
PMID:15781812 PMID:17389303 PMID:23317923 PMID:28492532 |
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NCBI chr17:17,644,088...17,662,709
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G |
Il1a |
interleukin 1 alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
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NCBI chr 3:136,979,804...136,990,236
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G |
Il1b |
interleukin 1 beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
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NCBI chr 3:137,030,200...137,036,581
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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:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565
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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 1:5,727,111...5,845,338
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G |
Nhlrc1 |
NHL repeat containing E3 ubiquitin protein ligase 1 |
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ISO |
ClinVar Annotator: match by term: Myoclonic epilepsy of Lafora 1 |
ClinVar |
PMID:25741868 |
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NCBI chr17:17,674,303...17,677,144
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G |
Nhlrc1 |
NHL repeat containing E3 ubiquitin protein ligase 1 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 2b | ClinVar Annotator: match by term: Myoclonic epilepsy of Lafora 2 |
OMIM ClinVar |
PMID:12958597 PMID:12960212 PMID:15781812 PMID:15930137 PMID:16134145 PMID:16190947 PMID:16311711 PMID:16529633 PMID:16950819 PMID:17389303 PMID:17952067 PMID:18029386 PMID:18256682 PMID:18263761 PMID:18311786 PMID:19267391 PMID:19744044 PMID:20301563 PMID:20738377 PMID:21505799 PMID:22047982 PMID:22815132 PMID:24452334 PMID:25270369 PMID:25401298 PMID:25667860 PMID:25683376 PMID:25741868 PMID:26467025 PMID:27194917 PMID:28492532 PMID:28556688 PMID:29431110 PMID:29588937 PMID:30701169 PMID:31227012 PMID:31758957 PMID:31858178 PMID:32587944 More...
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NCBI chr17:17,674,303...17,677,144
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G |
Ccnf |
cyclin F |
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ISO |
ClinVar Annotator: match by term: Familial infantile myoclonic epilepsy |
ClinVar |
PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 PMID:26467025 PMID:27259978 PMID:27281533 PMID:28301460 PMID:28492532 PMID:28951997 PMID:29358611 More...
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NCBI chr10:13,757,884...13,783,669
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G |
Kit |
KIT proto-oncogene receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Familial infantile myoclonic epilepsy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr14:32,901,615...32,978,895
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G |
Opa1 |
OPA1, mitochondrial dynamin like GTPase |
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ISO |
ClinVar Annotator: match by term: Familial infantile myoclonic epilepsy |
ClinVar |
PMID:25326637 PMID:28492532 |
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NCBI chr11:84,612,943...84,690,025
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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 DNA:mutation:cds:c.751T>C(p.F251L)(human) DNA:mutation:cds:c.457G>A (p.E153K)(human) |
OMIM ClinVar RGD |
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 PMID:20797691 PMID:25769375 More...
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RGD:11537393, RGD:11537392 |
NCBI chr10:13,205,819...13,236,013
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G |
Arpc4 |
actin related protein 2/3 complex, subunit 4 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr 4:148,077,799...148,088,427
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G |
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 1:80,572,790...80,601,936
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G |
Atp2b2 |
ATPase plasma membrane Ca2+ transporting 2 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr 4:146,894,602...147,208,060
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G |
Brk1 |
BRICK1 subunit of SCAR/WAVE actin nucleating complex |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr 4:146,750,821...146,766,050
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G |
Brpf1 |
bromodomain and PHD finger containing, 1 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr 4:146,456,325...146,472,781
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G |
Cacna1a |
calcium voltage-gated channel subunit alpha1 A |
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ISO |
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy |
ClinVar |
PMID:25735478 PMID:25741868 PMID:28492532 PMID:28566750 PMID:30142438 PMID:32910250 More...
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NCBI chr19:40,425,560...40,724,810
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G |
Camk1 |
calcium/calmodulin-dependent protein kinase I |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr 4:148,036,843...148,047,675
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G |
Ccdc120 |
coiled-coil domain containing 120 |
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ISO |
ClinVar Annotator: match by term: Early onset epileptic encephalopathy |
ClinVar |
PMID:26173968 |
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NCBI chr X:14,753,594...14,772,745
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G |
Chd2 |
chromodomain helicase DNA binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset |
ClinVar |
PMID:23708187 PMID:24207121 PMID:25741868 PMID:25783594 PMID:28492532 PMID:29358611 More...
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NCBI chr 1:136,597,993...136,726,874
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G |
Cidec |
cell death-inducing DFFA-like effector c |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr 4:146,569,288...146,582,173
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G |
Cpne9 |
copine family member 9 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr 4:146,429,961...146,454,335
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G |
Creld1 |
cysteine-rich with EGF-like domains 1 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr 4:146,631,883...146,641,493
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G |
Dnm1 |
dynamin 1 |
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ISO |
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RGD |
PMID:27363778 |
RGD:11557016 |
NCBI chr 3:36,002,535...36,055,220
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G |
Emc3 |
ER membrane protein complex subunit 3 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr 4:146,663,065...146,678,976
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G |
Fancd2 |
FA complementation group D2 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr 4:148,234,633...148,299,035
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G |
Fancd2os |
FANCD2 opposite strand |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr 4:146,740,863...146,747,547
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G |
Fgf12 |
fibroblast growth factor 12 |
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ISO |
ClinVar Annotator: match by term: Early onset epileptic encephalopathy |
ClinVar |
PMID:25741868 PMID:27164707 PMID:27830185 PMID:27872899 PMID:28492532 PMID:28506426 PMID:28554332 PMID:29652076 PMID:29699863 More...
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NCBI chr11:85,501,947...86,069,543
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G |
Fmr1 |
fragile X messenger ribonucleoprotein 1 |
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IEP |
protein:decreased expression:hippocampus, cytosol (rat) |
RGD |
PMID:23831253 |
RGD:11667971 |
NCBI chr X:147,240,239...147,278,057
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G |
Ghrl |
ghrelin and obestatin prepropeptide |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr 4:146,865,712...146,869,621
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G |
Il17rc |
interleukin 17 receptor C |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr 4:146,618,321...146,631,444
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G |
Il17re |
interleukin 17 receptor E |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr 4:146,604,547...146,618,206
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G |
Iqsec2 |
IQ motif and Sec7 domain ArfGEF 2 |
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ISO |
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy |
ClinVar |
PMID:25741868 |
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NCBI chr X:21,254,799...21,337,179
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G |
Irak2 |
interleukin-1 receptor-associated kinase 2 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr 4:148,341,704...148,398,211
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G |
Jagn1 |
jagunal homolog 1 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr 4:146,591,577...146,596,287
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G |
Limk1 |
LIM domain kinase 1 |
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ISO |
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy |
ClinVar |
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NCBI chr12:27,663,177...27,697,085
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G |
Mtmr14 |
myotubularin related protein 14 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr 4:146,386,949...146,429,990
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G |
Ogg1 |
8-oxoguanine DNA glycosylase |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr 4:148,030,237...148,037,599
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G |
Pik3ap1 |
phosphoinositide-3-kinase adaptor protein 1 |
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ISO |
ClinVar Annotator: match by term: Infantile spasm |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:250,040,250...250,194,364
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G |
Praf2 |
PRA1 domain family, member 2 |
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ISO |
ClinVar Annotator: match by term: Early onset epileptic encephalopathy |
ClinVar |
PMID:26173968 |
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NCBI chr X:14,773,398...14,776,035
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G |
Prrt3 |
proline-rich transmembrane protein 3 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr 4:146,641,173...146,650,487
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G |
Ralgapa1 |
Ral GTPase activating protein catalytic subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: Infantile spasm |
ClinVar |
PMID:32004447 |
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NCBI chr 6:72,977,432...73,252,378
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G |
Rbfox1 |
RNA binding fox-1 homolog 1 |
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ISO |
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy |
ClinVar |
PMID:25741868 |
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NCBI chr10:8,152,198...10,248,120
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G |
Rpusd3 |
RNA pseudouridine synthase D3 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr 4:146,553,743...146,562,789
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G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
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ISO |
ClinVar Annotator: match by term: Infantile spasm |
ClinVar |
PMID:18930999 PMID:19563458 PMID:20452746 PMID:22848613 PMID:25741868 PMID:28492532 More...
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NCBI chr 3:71,360,840...71,479,870
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G |
Scn1b |
sodium voltage-gated channel beta subunit 1 |
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ISO |
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy |
ClinVar |
PMID:19710327 PMID:25741868 PMID:28218389 PMID:28492532 PMID:37845033 |
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NCBI chr 1:95,481,298...95,491,211
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G |
Scn2a |
sodium voltage-gated channel alpha subunit 2 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood |
ClinVar |
PMID:25741868 |
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NCBI chr 3:70,710,862...70,845,569
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G |
Scn8a |
sodium voltage-gated channel alpha subunit 8 |
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ISO |
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:133,860,901...134,034,809
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G |
Sec13 |
SEC13 homolog, nuclear pore and COPII coat complex component |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr 4:148,433,344...148,446,735
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G |
Slc13a5 |
solute carrier family 13 member 5 |
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ISO |
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy |
ClinVar |
PMID:24033266 PMID:24995870 PMID:25741868 PMID:26384929 PMID:27261973 PMID:27600704 PMID:27913086 PMID:28492532 PMID:28673551 PMID:30525188 PMID:32551328 PMID:33040525 PMID:33063863 More...
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NCBI chr10:56,866,249...56,891,189
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G |
Slc6a1 |
solute carrier family 6 member 1 |
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ISO |
ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder |
OMIM ClinVar |
PMID:9536098 PMID:14744863 PMID:15496410 PMID:16199547 PMID:17576681 PMID:19344873 PMID:22235131 PMID:22495306 PMID:24859339 PMID:25363768 PMID:25640679 PMID:25741868 PMID:25741909 PMID:25865495 PMID:26467025 PMID:26716362 PMID:27541642 PMID:27824329 PMID:27959697 PMID:28135719 PMID:28191889 PMID:28213519 PMID:28492532 PMID:28708303 PMID:28856709 PMID:29315614 PMID:29358611 PMID:29933521 PMID:29961511 PMID:30132828 PMID:30525188 PMID:31031587 PMID:31302675 PMID:31332282 PMID:31401500 PMID:31780880 PMID:31785789 PMID:31981491 PMID:32005694 PMID:32398021 PMID:32469098 PMID:32581362 PMID:32660967 PMID:33004838 PMID:33241211 PMID:33961861 PMID:34006619 PMID:34028503 PMID:34120799 PMID:34489640 PMID:34653234 PMID:35701389 PMID:35761184 PMID:36674476 PMID:36895422 PMID:37502687 PMID:37647852 PMID:37700749 More...
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NCBI chr 4:147,448,961...147,482,295
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G |
Slc6a11 |
solute carrier family 6 member 11 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr 4:147,297,972...147,413,319
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G |
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 chr13:42,745,956...42,967,091
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G |
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 3:16,076,725...16,138,431
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G |
Tada3 |
transcriptional adaptor 3 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr 4:146,510,213...146,521,975
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G |
Tatdn2 |
TatD DNase domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr 4:146,845,156...146,865,708
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G |
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 chr10:13,205,819...13,236,013
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G |
Ttll3 |
tubulin tyrosine ligase like 3 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr 4:146,532,958...146,558,425
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G |
Vhl |
von Hippel-Lindau tumor suppressor |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr 4:146,772,483...146,779,376
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G |
Wdr45 |
WD repeat domain 45 |
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ISO |
ClinVar Annotator: match by term: Early onset epileptic encephalopathy |
ClinVar |
PMID:26173968 |
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NCBI chr X:17,448,195...17,454,117
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G |
Med11 |
mediator complex subunit 11 |
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ISO |
ClinVar Annotator: match by term: Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities |
OMIM ClinVar |
PMID:36001086 |
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NCBI chr10:55,164,322...55,165,940
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G |
Nhlrc1 |
NHL repeat containing E3 ubiquitin protein ligase 1 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 2b |
ClinVar |
PMID:12958597 PMID:12960212 PMID:15781812 PMID:15930137 PMID:16311711 PMID:16529633 PMID:18029386 PMID:18256682 PMID:19744044 PMID:20738377 PMID:21505799 PMID:22815132 PMID:25270369 PMID:26467025 PMID:28492532 PMID:28556688 PMID:29431110 PMID:31227012 PMID:31758957 PMID:31858178 More...
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NCBI chr17:17,674,303...17,677,144
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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 chr20:9,128,056...9,184,312
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G |
Adarb1 |
adenosine deaminase, RNA-specific, B1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr20:11,222,569...11,350,854
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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 chr18:63,224,163...63,269,000
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G |
Agpat3 |
1-acylglycerol-3-phosphate O-acyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr20:10,330,960...10,415,358
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G |
Aire |
autoimmune regulator |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr20:10,635,775...10,650,709
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G |
Art3 |
ADP-ribosyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
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NCBI chr14:15,637,230...15,719,442
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G |
Atn1 |
atrophin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10814707 |
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NCBI chr 4:157,554,287...157,568,092
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G |
C20h21orf58 |
similar to human chromosome 21 open reading frame 58 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr20:12,165,853...12,187,271
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G |
C2cd2 |
C2 calcium-dependent domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr11:37,225,321...37,289,741
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G |
Cbs |
cystathionine beta synthase |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr20:9,708,089...9,732,623
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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 chr14:15,411,178...15,468,579
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G |
Cdkl2 |
cyclin dependent kinase like 2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
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NCBI chr14:16,312,154...16,347,524
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G |
Cers1 |
ceramide synthase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr16:19,131,271...19,146,480
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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 chr20:10,687,863...10,694,736
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G |
Chd2 |
chromodomain helicase DNA binding protein 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 1:136,597,993...136,726,874
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G |
Cln3 |
CLN3 lysosomal/endosomal transmembrane protein, battenin |
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ISO |
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:27843123 PMID:28041643 PMID:28492532 PMID:28542676 More...
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NCBI chr 1:181,156,071...181,169,458
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G |
Cln5 |
CLN5, intracellular trafficking protein |
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ISO |
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:18414213 PMID:24767253 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr15:79,893,573...79,903,438
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G |
Cln6 |
CLN6, transmembrane ER protein |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive |
CTD ClinVar |
PMID:25401298 PMID:25741868 |
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NCBI chr 8:63,303,356...63,318,360
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G |
Col18a1 |
collagen type XVIII alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr20:11,474,104...11,582,593
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G |
Col6a1 |
collagen type VI alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr20:11,905,690...11,924,111
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G |
Col6a2 |
collagen type VI alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr20:12,021,676...12,049,425
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G |
Cryaa |
crystallin, alpha A |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr20:9,783,605...9,787,351
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G |
Cstb |
cystatin B |
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ISO |
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:9012407 PMID:9054946 PMID:9342192 PMID:9360639 PMID:9536098 PMID:15329070 PMID:15483648 PMID:16155205 PMID:17003839 PMID:17576681 PMID:17920138 PMID:18028412 PMID:18925453 PMID:20078424 PMID:21757863 PMID:22936898 PMID:23091450 PMID:23205931 PMID:25741868 PMID:26467025 PMID:26843564 PMID:28492532 PMID:29358611 PMID:29915382 PMID:31440721 PMID:32581362 PMID:35478072 PMID:37541188 PMID:38247861 More...
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NCBI chr20:10,245,462...10,247,505
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G |
Cxcl10 |
C-X-C motif chemokine ligand 10 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
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NCBI chr14:15,989,066...15,991,263
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G |
Cxcl11 |
C-X-C motif chemokine ligand 11 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
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NCBI chr14:15,973,728...15,976,503
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G |
Cxcl9 |
C-X-C motif chemokine ligand 9 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
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NCBI chr14:16,007,166...16,012,077
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G |
Dnajc5 |
DnaJ heat shock protein family (Hsp40) member C5 |
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ISO |
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 3:168,621,905...168,656,570
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G |
Dnmt3l |
DNA methyltransferase 3 like |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr20:10,614,591...10,628,989
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G |
Epm2a |
EPM2A glucan phosphatase, laforin |
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ISO |
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive | ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar 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 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 CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
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:25401298 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 PMID:9771710 More...
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RGD:9685621 |
NCBI chr 1:5,727,111...5,845,338
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G |
Fam47e |
family with sequence similarity 47, member E |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
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NCBI chr14:15,485,537...15,521,599
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G |
Fbxl3 |
F-box and leucine-rich repeat protein 3 |
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ISO |
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:18414213 PMID:24767253 PMID:25741868 PMID:28492532 |
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NCBI chr15:79,906,795...79,926,678
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G |
Ftcd |
formimidoyltransferase cyclodeaminase |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr20:12,055,203...12,068,717
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G |
G3bp2 |
G3BP stress granule assembly factor 2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
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NCBI chr14:15,932,403...16,020,555
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G |
Gatd3a |
glutamine amidotransferase class 1 domain containing 3A |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr20:10,514,459...10,522,556
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G |
Gosr2 |
golgi SNAP receptor complex member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19057520 PMID:21549339 PMID:23449775 PMID:24458321 PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28982678 PMID:29855340 PMID:30363482 PMID:31440721 PMID:32032478 PMID:33639315 PMID:34167170 PMID:37895210 More...
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NCBI chr10:89,085,323...89,105,665
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G |
Hsf2bp |
heat shock transcription factor 2 binding protein |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr20:10,035,562...10,123,059
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G |
Icoslg |
inducible T-cell co-stimulator ligand |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr20:10,600,420...10,610,718
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G |
Itgb2 |
integrin subunit beta 2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr20:11,061,009...11,097,242
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G |
Kcnc1 |
potassium voltage-gated channel subfamily C member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25401298 |
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NCBI chr 1:96,902,953...96,944,744
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G |
Kctd7 |
potassium channel tetramerization domain containing 7 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
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NCBI chr12:26,520,969...26,532,327
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G |
Krtap10-1 |
keratin associated protein 10-1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr20:10,880,524...10,881,445
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G |
Krtap10-10 |
keratin associated protein 10-10 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr20:10,854,951...10,864,402
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G |
Krtap10-2 |
keratin associated protein 10-2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr20:10,888,588...10,889,386
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G |
Krtap10-8 |
keratin associated protein 10-8 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr20:10,871,991...10,872,927
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G |
Krtap10-9 |
keratin associated protein 10-9 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr20:10,939,609...10,940,526
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G |
Krtap12-1 |
keratin associated protein 12-1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr20:10,917,340...10,917,949
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G |
Krtap12-2 |
keratin associated protein 12-2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr20:10,904,422...10,904,751
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G |
Krtap12-4 |
keratin associated protein 12-4 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr20:10,910,350...10,910,682
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G |
Lmnb2 |
lamin B2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 7:8,792,628...8,808,665
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G |
Lrrc3 |
leucine rich repeat containing 3 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr20:10,758,919...10,763,736
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G |
Lss |
lanosterol synthase |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr20:12,090,641...12,118,230
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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 chr20:12,127,570...12,165,165
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G |
Mfsd8 |
major facilitator superfamily domain containing 8 |
|
ISO |
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:123,822,042...123,847,808
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G |
Naaa |
N-acylethanolamine acid amidase |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
|
NCBI chr14:15,777,306...15,796,411
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G |
Ndufv3 |
NADH:ubiquinone oxidoreductase subunit V3 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:9,613,786...9,622,941
|
|
G |
Neu1 |
neuraminidase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25401298 |
|
NCBI chr20:3,897,480...3,901,745
|
|
G |
Nhlrc1 |
NHL repeat containing E3 ubiquitin protein ligase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25401298 |
|
NCBI chr17:17,674,303...17,677,144
|
|
G |
Nup54 |
nucleoporin 54 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
|
NCBI chr14:15,617,630...15,636,029
|
|
G |
Odaph |
odontogenesis associated phosphoprotein |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
|
NCBI chr14:16,071,835...16,080,151
|
|
G |
Optn |
optineurin |
|
ISO |
protein:increased expression:neuron, nucleus |
RGD |
PMID:12379221 PMID:22318854 |
RGD:724387, RGD:6480499 |
NCBI chr17:73,209,572...73,260,251
|
|
G |
Pcbp3 |
poly(rC) binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:11,678,218...11,878,210
|
|
G |
Pcnt |
pericentrin |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:12,190,597...12,278,723
|
|
G |
Pde9a |
phosphodiesterase 9A |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:9,469,809...9,562,949
|
|
G |
Pfkl |
phosphofructokinase, liver type |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:10,663,907...10,685,967
|
|
G |
Pknox1 |
PBX/knotted 1 homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:9,662,866...9,705,030
|
|
G |
Pofut2 |
protein O-fucosyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:11,367,073...11,377,788
|
|
G |
Ppef2 |
protein phosphatase with EF-hand domain 2 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
|
NCBI chr14:15,797,414...15,831,620
|
|
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...
|
|
NCBI chr 5:135,121,164...135,142,048
|
|
G |
Prdm15 |
PR/SET domain 15 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr11:37,164,608...37,225,172
|
|
G |
Prdm8 |
PR/SET domain 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr14:11,403,202...11,424,059
|
|
G |
Prickle1 |
prickle planar cell polarity protein 1 |
|
ISO |
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: PME ClinVar Annotator: match by term: PME | ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:18414213 PMID:20301774 PMID:21901791 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 More...
|
|
NCBI chr 7:124,639,142...124,735,027
|
|
G |
Prickle2 |
prickle planar cell polarity protein 2 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:21276947 PMID:23711981 PMID:25741868 PMID:26467025 PMID:26942291 PMID:26942292 PMID:28492532 PMID:29358611 More...
|
|
NCBI chr 4:124,869,655...125,214,862
|
|
G |
Prnp |
prion protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25401298 |
|
NCBI chr 3:139,639,076...139,654,420
|
|
G |
Pttg1ip |
PTTG1 interacting protein |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:11,030,013...11,047,742
|
|
G |
Pwp2 |
PWP2, small subunit processome component |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:10,499,332...10,512,965
|
|
G |
Ripk4 |
receptor-interacting serine-threonine kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr11:50,591,926...50,614,169
|
|
G |
Rrp1 |
ribosomal RNA processing 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:10,260,892...10,272,141
|
|
G |
Rrp1b |
ribosomal RNA processing 1B |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:10,122,825...10,148,404
|
|
G |
Rsph1 |
radial spoke head component 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:9,341,910...9,360,640
|
|
G |
Sacs |
sacsin molecular chaperone |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25401298 |
|
NCBI chr15:35,285,783...35,370,335
|
|
G |
Scarb2 |
scavenger receptor class B, member 2 |
|
ISS ISO |
OMIM:254900 | OMIM:310370 | OMIM:611726 | OMIM:612437 | OMIM:614018 ClinVar Annotator: match by term: Familial progressive myoclonic epilepsy | ClinVar Annotator: match by term: Progressive myoclonic epilepsy | ClinVar Annotator: match by term: Progressive myoclonus epilepsy ClinVar Annotator: match by term: Familial progressive myoclonic epilepsy | ClinVar Annotator: match by term: PME | ClinVar Annotator: match by term: Progressive myoclonic epilepsy | ClinVar Annotator: match by term: Progressive myoclonus epilepsy ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
MouseDO ClinVar |
PMID:9536098 PMID:15364701 PMID:16199547 PMID:17576681 PMID:18308289 PMID:19597094 PMID:19847901 PMID:19933215 PMID:21670406 PMID:22032306 PMID:22767442 PMID:23515316 PMID:23659519 PMID:24339182 PMID:24485911 PMID:24620919 PMID:25088547 PMID:25741868 PMID:26467025 PMID:26836416 PMID:28222800 PMID:28492532 PMID:29261713 PMID:29358611 PMID:34791078 PMID:35478072 More...
|
|
NCBI chr14:15,558,271...15,609,813
|
|
G |
Sdad1 |
SDA1 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
|
NCBI chr14:15,741,489...15,768,271
|
|
G |
Serpini1 |
serpin family I member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25401298 |
|
NCBI chr 2:160,346,403...160,433,135
|
|
G |
Shroom3 |
shroom family member 3 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
|
NCBI chr14:15,099,415...15,396,832
|
|
G |
Sik1 |
salt-inducible kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:9,947,104...9,958,729
|
|
G |
Slc19a1 |
solute carrier family 19 member 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:11,584,410...11,602,429
|
|
G |
Slc37a1 |
solute carrier family 37 member 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:9,360,501...9,433,895
|
|
G |
Slx9 |
SLX9 ribosome biogenesis factor |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:11,114,632...11,147,532
|
|
G |
Spatc1l |
spermatogenesis and centriole associated 1-like |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:12,074,040...12,083,873
|
|
G |
Stbd1 |
starch binding domain 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
|
NCBI chr14:15,470,452...15,473,857
|
|
G |
Sumo3 |
small ubiquitin-like modifier 3 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:11,009,730...11,020,502
|
|
G |
Tbc1d24 |
TBC1 domain family, member 24 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25401298 |
|
NCBI chr10:13,205,819...13,236,013
|
|
G |
Tff1 |
trefoil factor 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:9,235,736...9,239,597
|
|
G |
Tff2 |
trefoil factor 2 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:9,217,110...9,220,979
|
|
G |
Tff3 |
trefoil factor 3 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:9,193,259...9,197,969
|
|
G |
Tmprss3 |
transmembrane serine protease 3 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:9,254,102...9,273,808
|
|
G |
Tpp1 |
tripeptidyl peptidase 1 |
|
ISO |
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chr 1:160,097,984...160,104,108
|
|
G |
Trappc10 |
trafficking protein particle complex subunit 10 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:10,438,404...10,498,740
|
|
G |
Trpm2 |
transient receptor potential cation channel, subfamily M, member 2 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:10,703,568...10,753,189
|
|
G |
Tsc1 |
TSC complex subunit 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17484760 |
|
NCBI chr 3:32,367,434...32,416,565
|
|
G |
Tspear |
thrombospondin-type laminin G domain and EAR repeats |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:10,771,806...10,837,419
|
|
G |
U2af1 |
U2 small nuclear RNA auxiliary factor 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:9,742,904...9,753,840
|
|
G |
Ubash3a |
ubiquitin associated and SH3 domain containing, A |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:9,291,471...9,334,685
|
|
G |
Ube2g2 |
ubiquitin-conjugating enzyme E2G 2 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:10,983,734...11,005,468
|
|
G |
Umodl1 |
uromodulin-like 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:9,027,751...9,087,133
|
|
G |
Uso1 |
USO1 vesicle transport factor |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
|
NCBI chr14:15,866,638...15,932,185
|
|
G |
Wdr4 |
WD repeat domain 4 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:9,587,205...9,611,434
|
|
G |
Wnt3 |
Wnt family member 3 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:21549339 PMID:28492532 |
|
NCBI chr10:89,180,224...89,224,195
|
|
G |
Wnt9b |
Wnt family member 9B |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:21549339 PMID:28492532 |
|
NCBI chr10:89,135,362...89,157,065
|
|
G |
Ybey |
ybeY metalloendoribonuclease |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:12,165,192...12,174,713
|
|
G |
Zbtb21 |
zinc finger and BTB domain containing 21 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr11:37,312,337...37,327,040
|
|
|
G |
Antxr2 |
ANTXR cell adhesion molecule 2 |
|
ISO |
ClinVar Annotator: match by term: Early-onset Lafora body disease |
ClinVar |
PMID:28492532 |
|
NCBI chr14:11,541,718...11,682,110
|
|
G |
Prdm8 |
PR/SET domain 8 |
|
ISO |
ClinVar Annotator: match by term: Early-onset Lafora body disease | ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 10 |
OMIM ClinVar |
PMID:22961547 PMID:25741868 PMID:28492532 |
|
NCBI chr14:11,403,202...11,424,059
|
|
|
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 |
|
NCBI chr 9:950,939...967,905
|
|
|
G |
Prmt7 |
protein arginine methyltransferase 7 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 12 |
ClinVar |
PMID:25741868 PMID:33085104 |
|
NCBI chr19:34,110,724...34,161,531
|
|
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 |
|
NCBI chr19:34,101,978...34,110,666
|
|
|
G |
Cstb |
cystatin B |
|
ISO |
|
OMIM |
|
|
NCBI chr20:10,245,462...10,247,505
|
|
|
G |
Prickle1 |
prickle planar cell polarity protein 1 |
|
ISO ISS |
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 1B | ClinVar Annotator: match by term: Progressive myoclonus epilepsy with ataxia OMIM:612437 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
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...
|
|
NCBI chr 7:124,639,142...124,735,027
|
|
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 |
|
NCBI chr10:13,205,819...13,236,013
|
|
|
G |
Cln3 |
CLN3 lysosomal/endosomal transmembrane protein, battenin |
|
ISO |
ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 14 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 1:181,156,071...181,169,458
|
|
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: 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...
|
|
NCBI chr12:26,520,969...26,532,327
|
|
|
G |
Kcnh8 |
potassium voltage-gated channel subfamily H member 8 |
|
ISO |
ClinVar Annotator: match by term: Action myoclonus-renal failure syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:5,506,044...5,945,828
|
|
G |
Rtel1 |
regulator of telomere elongation helicase 1 |
|
ISO |
ClinVar Annotator: match by term: Action myoclonus-renal failure syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:168,427,247...168,465,349
|
|
G |
Scarb2 |
scavenger receptor class B, member 2 |
|
ISO |
ClinVar Annotator: match by term: Action myoclonus-renal failure syndrome | ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 4, with or without renal failure | ClinVar Annotator: match by term: SCARB2-related condition |
OMIM ClinVar |
PMID:9536098 PMID:15364701 PMID:16199547 PMID:17576681 PMID:18308289 PMID:18424452 PMID:19454373 PMID:19597094 PMID:19847901 PMID:19933215 PMID:21670406 PMID:21796727 PMID:22032306 PMID:22767442 PMID:23225201 PMID:23515316 PMID:23659519 PMID:24339182 PMID:24485911 PMID:24620919 PMID:25088547 PMID:25741868 PMID:26467025 PMID:26836416 PMID:28222800 PMID:28492532 PMID:29261713 PMID:29358611 PMID:34791078 PMID:35478072 More...
|
|
NCBI chr14:15,558,271...15,609,813
|
|
|
G |
Fanci |
FA complementation group I |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 5 |
ClinVar |
PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:22237560 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25488682 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28130605 PMID:28492532 PMID:30451971 More...
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NCBI chr 1:142,736,636...142,792,999
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G |
Msh6 |
mutS homolog 6 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 |
ClinVar |
PMID:23621914 PMID:24033266 PMID:25142776 PMID:25326637 PMID:25741868 PMID:25980754 PMID:26689913 PMID:28492532 PMID:29684080 PMID:29945567 PMID:30267214 PMID:31159747 PMID:31332305 PMID:31391288 PMID:31422574 PMID:31921681 PMID:33471991 PMID:34445333 PMID:35980532 More...
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NCBI chr 6:12,316,190...12,333,505
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G |
Polg |
DNA polymerase gamma, catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 5 |
ClinVar |
PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 PMID:11555352 PMID:11571332 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:12975295 PMID:14557557 PMID:14635118 PMID:14694057 PMID:14745080 PMID:15122711 PMID:15181170 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15689359 PMID:15824347 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16080118 PMID:16130100 PMID:16177225 PMID:16199547 PMID:16368709 PMID:16401742 PMID:16545482 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16639411 PMID:16896309 PMID:16919951 PMID:16940310 PMID:17088268 PMID:17418573 PMID:17426723 PMID:17436221 PMID:17438011 PMID:17452231 PMID:17502560 PMID:17538929 PMID:17846414 PMID:17894835 PMID:17950645 PMID:17980715 PMID:18156159 PMID:18195149 PMID:18195151 PMID:18294203 PMID:18321754 PMID:18414213 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18716558 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19125351 PMID:19189930 PMID:19195941 PMID:19251978 PMID:19307547 PMID:19344718 PMID:19364868 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19629138 PMID:19752458 PMID:19762913 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19862739 PMID:19887119 PMID:20138553 PMID:20142534 PMID:20153822 PMID:20176107 PMID:20185557 PMID:20220442 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20434700 PMID:20438629 PMID:20513108 PMID:20513922 PMID:20576279 PMID:20601675 PMID:20691285 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20837862 PMID:20843780 PMID:20883824 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21236670 PMID:21259344 PMID:21276947 PMID:21282586 PMID:21305355 PMID:21357833 PMID:21455106 PMID:21484424 PMID:21515089 PMID:21550804 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21953457 PMID:21956653 PMID:21993618 PMID:22000311 PMID:22006280 PMID:22084276 PMID:22166854 PMID:22189570 PMID:22237560 PMID:22342071 PMID:22494076 PMID:22537151 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22863191 PMID:22931735 PMID:22987704 PMID:22995991 PMID:23084792 PMID:23208208 PMID:23212759 PMID:23248042 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID:23419467 PMID:23426270 PMID:23430834 PMID:23446635 PMID:23446645 PMID:23448099 PMID:23524600 PMID:23665194 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23811324 PMID:23921535 PMID:24033266 PMID:24091540 PMID:24122062 PMID:24259288 PMID:24265579 PMID:24272679 PMID:24288107 PMID:24331360 PMID:24508722 PMID:24642831 PMID:24725338 PMID:25025039 PMID:25118206 PMID:25193669 PMID:25286830 PMID:25356970 PMID:25462018 PMID:25488682 PMID:25497598 PMID:25585994 PMID:25660390 PMID:25713120 PMID:25741868 PMID:25742477 PMID:25850945 PMID:25852747 PMID:25940035 PMID:26077851 PMID:26095671 PMID:26104464 PMID:26169155 PMID:26224072 PMID:26337858 PMID:26357557 PMID:26467025 PMID:26468652 PMID:26557169 PMID:26607151 PMID:26735972 PMID:26742794 PMID:26755490 PMID:26942291 PMID:26942292 PMID:27016405 PMID:27111573 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27290639 PMID:27422324 PMID:27450679 PMID:27538604 PMID:27538665 PMID:27822509 PMID:27838477 PMID:27917773 PMID:27987238 PMID:28128857 PMID:28130605 PMID:28154168 PMID:28206745 PMID:28337550 PMID:28444220 PMID:28471437 PMID:28480171 PMID:28492532 PMID:28634151 PMID:28756246 PMID:28771251 PMID:28776642 PMID:28812649 PMID:28837072 PMID:28865037 PMID:28958595 PMID:29029963 PMID:29214156 PMID:29272804 PMID:29302508 PMID:29341116 PMID:29358615 PMID:29423831 PMID:29431110 PMID:29474836 PMID:29482223 PMID:29574624 PMID:29588995 PMID:29655203 PMID:29712893 PMID:29913018 PMID:29920680 PMID:29992832 PMID:29997391 PMID:30021052 PMID:30167885 PMID:30255931 PMID:30290626 PMID:30306720 PMID:30369941 PMID:30373890 PMID:30404819 PMID:30423451 PMID:30451971 PMID:30487145 PMID:30637288 PMID:30818899 PMID:30843307 PMID:30860128 PMID:30936349 PMID:30941926 PMID:30951992 PMID:31085725 PMID:31164858 PMID:31475037 PMID:31521625 PMID:31571979 PMID:31589614 PMID:31645654 PMID:31655921 PMID:31658717 PMID:31665838 PMID:31669236 PMID:31980526 PMID:31996268 PMID:32019516 PMID:32042919 PMID:32165824 PMID:32234506 PMID:32305867 PMID:32348839 PMID:32391929 PMID:32445240 PMID:32502631 PMID:32567010 PMID:32613234 PMID:32964447 PMID:33233646 PMID:33396418 PMID:33434755 PMID:33469851 PMID:33473333 PMID:33486010 PMID:33513296 PMID:33579567 PMID:33600046 PMID:33683010 PMID:33726816 PMID:33791913 PMID:33956154 PMID:34008892 PMID:34052969 PMID:34062649 PMID:34194468 PMID:34288125 PMID:34426522 PMID:34670123 PMID:34690748 PMID:34782754 PMID:34927673 PMID:35114397 PMID:35186329 PMID:35307828 PMID:35350396 PMID:35598585 PMID:35699875 PMID:35799515 PMID:35861376 PMID:36325100 PMID:36332611 PMID:36703223 PMID:36987741 PMID:37091313 PMID:37184518 PMID:37189790 PMID:38772265 PMID:38845467 More...
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NCBI chr 1:142,792,119...142,808,933
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G |
Prickle2 |
prickle planar cell polarity protein 2 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 5 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:21276947 PMID:23711981 PMID:24088041 PMID:25326635 PMID:25741868 PMID:26467025 PMID:26633545 PMID:26942291 PMID:26942292 PMID:28492532 PMID:29358611 More...
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NCBI chr 4:124,869,655...125,214,862
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G |
Twnk |
twinkle mtDNA helicase |
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ISO |
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 |
ClinVar |
PMID:21689831 PMID:25741868 PMID:28492532 |
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NCBI chr 1:243,867,568...243,874,802
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G |
Gosr2 |
golgi SNAP receptor complex member 2 |
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ISO |
ClinVar Annotator: match by term: GOSR2-related condition | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 6 |
OMIM ClinVar |
PMID:16199547 PMID:19057520 PMID:21549339 PMID:23449775 PMID:24458321 PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28982678 PMID:29855340 PMID:31440721 PMID:32032478 PMID:33639315 PMID:34167170 PMID:37895210 More...
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NCBI chr10:89,085,323...89,105,665
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G |
Ndufs2 |
NADH:ubiquinone oxidoreductase core subunit S2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 6 |
ClinVar |
PMID:22200994 PMID:25326637 PMID:25741868 PMID:28492532 |
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NCBI chr13:83,654,402...83,671,474
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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 chr 1:98,528,067...98,546,647
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G |
Gtf2h1 |
general transcription factor IIH subunit 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:97,321,417...97,349,455
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G |
Hps5 |
HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:97,281,626...97,320,945
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G |
Igsf22 |
immunoglobulin superfamily member 22 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:97,601,938...97,618,144
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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 chr 1:96,902,953...96,944,744
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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 chr 1:97,371,823...97,381,247
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G |
Ldhc |
lactate dehydrogenase C |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:97,385,984...97,403,382
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G |
Mrgprb2 |
MAS-related GPR, member B2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:98,401,140...98,403,162
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G |
Mrgprx1 |
MAS related GPR family member X1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:97,806,099...97,807,070
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G |
Mrgprx2 |
MAS related GPR family member X2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:98,116,192...98,135,534
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G |
Mrgprx3 |
MAS related GPR family member X3 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:97,720,377...97,746,953
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G |
Myod1 |
myogenic differentiation 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:106,021,161...106,023,871
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G |
Otog |
otogelin |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:96,746,336...96,815,416
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G |
Ptpn5 |
protein tyrosine phosphatase, non-receptor type 5 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:97,620,638...97,681,186
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G |
Saa4 |
serum amyloid A4 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:97,247,580...97,251,882
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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 chr 1:97,198,685...97,218,131
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G |
Sergef |
secretion regulating guanine nucleotide exchange factor |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:96,949,660...97,152,529
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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 chr 1:97,531,495...97,549,616
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G |
Tmem86a |
transmembrane protein 86A |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:97,595,910...97,600,260
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G |
Tph1 |
tryptophan hydroxylase 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:97,157,375...97,178,415
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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 chr 1:106,549,035...106,578,859
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G |
Uevld |
UEV and lactate/malate dehydrogenase domains |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:97,454,188...97,486,004
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G |
Ush1c |
USH1 protein network component harmonin |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:96,695,303...96,743,671
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G |
Zdhhc13 |
zinc finger DHHC-type palmitoyltransferase 13 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:98,487,319...98,525,906
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G |
Armc6 |
armadillo repeat containing 6 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
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NCBI chr16:19,191,106...19,201,528
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G |
Borcs8 |
BLOC-1 related complex subunit 8 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
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NCBI chr16:19,274,305...19,280,969
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G |
Cers1 |
ceramide synthase 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19243074 PMID:24033266 PMID:24782409 PMID:25741868 PMID:28492532 PMID:30800706 More...
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NCBI chr16:19,131,271...19,146,480
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G |
Comp |
cartilage oligomeric matrix protein |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
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NCBI chr16:19,047,206...19,055,584
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G |
Cope |
COPI coat complex subunit epsilon |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
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NCBI chr16:19,148,832...19,159,052
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G |
Ddx49 |
DEAD-box helicase 49 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
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NCBI chr16:19,125,388...19,133,042
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G |
Gdf1 |
growth differentiation factor 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19243074 PMID:24033266 PMID:24782409 PMID:25741868 PMID:28492532 PMID:30800706 More...
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NCBI chr16:19,131,271...19,146,480
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G |
Homer3 |
homer scaffold protein 3 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
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NCBI chr16:19,132,177...19,142,739
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G |
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 chr16:19,286,951...19,305,547
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G |
Nr2c2ap |
nuclear receptor 2C2-associated protein |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
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NCBI chr16:19,288,454...19,290,940
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G |
Rfxank |
regulatory factor X-associated ankyrin-containing protein |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
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NCBI chr16:19,280,857...19,288,886
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G |
Slc25a42 |
solute carrier family 25, member 42 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
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NCBI chr16:19,247,874...19,286,598
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G |
Sugp2 |
SURP and G patch domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
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NCBI chr16:19,159,951...19,191,412
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G |
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 chr16:19,237,638...19,248,151
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G |
Upf1 |
UPF1, RNA helicase and ATPase |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
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NCBI chr16:19,076,594...19,097,365
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G |
Abhd17a |
abhydrolase domain containing 17A, depalmitoylase |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,124,332...9,132,762
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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 chr 7:9,362,623...9,371,248
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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 chr 7:9,109,070...9,113,673
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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 chr 7:9,557,451...9,559,867
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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 chr 7:8,970,249...9,005,651
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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 chr 7:10,043,010...10,065,037
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G |
Atp8b3 |
ATPase phospholipid transporting 8B3 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,175,544...9,195,449
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G |
Btbd2 |
BTB domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,058,609...9,075,341
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G |
C7h19orf25 |
similar to human chromosome 19 open reading frame 25 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,390,255...9,392,383
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G |
Csnk1g2 |
casein kinase 1, gamma 2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,727,430...9,746,341
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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 chr 7:8,687,964...8,692,828
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G |
Dot1l |
DOT1 like histone lysine methyltransferase |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:8,918,764...8,959,474
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G |
Gadd45b |
growth arrest and DNA-damage-inducible, beta |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,428,689...9,430,991
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G |
Gna11 |
G protein subunit alpha 11 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:8,814,285...8,828,628
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G |
Gng7 |
G protein subunit gamma 7 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,348,148...9,411,924
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G |
Izumo4 |
IZUMO family member 4 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,007,276...9,010,428
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G |
Klf16 |
KLF transcription factor 16 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,138,503...9,148,322
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G |
Lingo3 |
leucine rich repeat and Ig domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:8,869,025...8,878,431
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G |
Lmnb2 |
lamin B2 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar OMIM |
PMID:9536098 PMID:16826530 PMID:17576681 PMID:22768673 PMID:22995991 PMID:25741868 PMID:25954030 PMID:26467025 PMID:27535533 PMID:28166811 PMID:28492532 PMID:32041611 More...
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NCBI chr 7:8,792,628...8,808,665
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G |
Lsm7 |
LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,507,373...9,509,787
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G |
Mbd3 |
methyl-CpG binding domain protein 3 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,961,053...9,970,845
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G |
Mex3d |
mex-3 RNA binding family member D |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,325,575...9,332,705
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G |
Mknk2 |
MAPK interacting serine/threonine kinase 2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,690,385...9,701,527
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G |
Mob3a |
MOB kinase activator 3A |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,010,490...9,027,888
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G |
Oaz1 |
ornithine decarboxylase antizyme 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,534,530...9,536,990
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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 chr 7:9,199,997...9,219,303
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G |
Pcsk4 |
proprotein convertase subtilisin/kexin type 4 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,381,366...9,389,589
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G |
Plekhj1 |
pleckstrin homology domain containing J1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:8,915,492...8,920,491
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G |
Plk5 |
polo-like kinase 5 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,997,453...10,006,959
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G |
Reep6 |
receptor accessory protein 6 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,373,927...9,380,845
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G |
Rexo1 |
RNA exonuclease 1 homolog |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,154,050...9,174,035
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G |
Scamp4 |
secretory carrier membrane protein 4 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,101,504...9,113,929
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G |
Sf3a2 |
splicing factor 3A subunit 2 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:8,909,507...8,916,104
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G |
Sgta |
small glutamine rich tetratricopeptide repeat co-chaperone alpha |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:8,653,681...8,670,460
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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 chr 7:8,676,845...8,682,846
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G |
Sppl2b |
signal peptide peptidase-like 2B |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:8,843,918...8,856,642
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G |
Tcf3 |
transcription factor 3 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,931,251...9,952,994
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G |
Thop1 |
thimet oligopeptidase 1 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,283,617...9,295,957
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G |
Timm13 |
translocase of inner mitochondrial membrane 13 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,459,490...9,460,849
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G |
Tle2 |
TLE family member 2, transcriptional corepressor |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:8,119,049...8,135,385
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G |
Tle5 |
TLE family member 5, transcriptional modulator |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:8,794,123...8,801,056
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G |
Tle6 |
TLE family member 6, subcortical maternal complex member |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:8,107,050...8,118,639
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G |
Tmprss9 |
transmembrane serine protease 9 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:8,810,321...8,831,177
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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 chr 7:9,305,042...9,309,753
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G |
Zfp77 |
zinc finger protein 77 |
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ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:7,269,879...7,316,286
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G |
Asah1 |
N-acylsphingosine amidohydrolase 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary myoclonus and progressive distal muscular atrophy | ClinVar Annotator: match by term: MYOCLONUS, HEREDITARY, WITH PROGRESSIVE DISTAL MUSCULAR ATROPHY | ClinVar Annotator: match by term: Spinal muscular atrophy with progressive myoclonic epilepsy |
OMIM ClinVar |
PMID:16199547 PMID:22703880 PMID:24033266 PMID:24164096 PMID:24355074 PMID:25326635 PMID:25578555 PMID:25741868 PMID:25847462 PMID:26467025 PMID:26526000 PMID:27026573 PMID:27411168 PMID:27723502 PMID:28251733 PMID:28492532 PMID:28733637 PMID:29169047 PMID:29358611 PMID:30291339 PMID:32449975 PMID:34240417 More...
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NCBI chr16:57,669,927...57,701,349
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G |
Cstb |
cystatin B |
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ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Unverricht-Lundborg syndrome |
CTD ClinVar MouseDO OMIM |
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:25288807 PMID:25741868 PMID:26467025 PMID:26843564 PMID:28492532 PMID:29358611 PMID:29915382 PMID:31440721 PMID:32581362 PMID:35478072 PMID:37541188 PMID:38247861 More...
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NCBI chr20:10,245,462...10,247,505
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