RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: Myoclonus
Accession: DOID:9007722
browse the term
Definition: Involuntary shock-like contractions, irregular in rhythm and amplitude, followed by relaxation, of a muscle or a group of muscles. This condition may be a feature of some CENTRAL NERVOUS SYSTEM DISEASES; (e.g., EPILEPSY, MYOCLONIC). Nocturnal myoclonus is the principal feature of the NOCTURNAL MYOCLONUS SYNDROME. (From Adams et al., Principles of Neurology, 6th ed, pp102-3).
Synonyms: exact_synonym: Intention Myoclonus; Myoclonic Jerk; Myoclonic Jerking; Myoclonic Jerks; Myoclonus Simplex; Nocturnal Myoclonus; Oculopalatal Myoclonus; Palatal Myoclonus; Polymyoclonus; action myoclonus; eyelid myoclonus; lower extremity myoclonus; segmental myoclonus; sleep myoclonus; upper extremity myoclonus
primary_id: MESH:D009207
xref: MIM:PS614937
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Mecp2
methyl CpG binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19559301
NCBI chr X:73,070,198...73,129,296
Ensembl chr X:73,070,198...73,129,296
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Scn2a
sodium channel, voltage-gated, type II, alpha
ISO
ClinVar Annotator: match by term: Myoclonus
ClinVar
NCBI chr 2:65,451,108...65,597,791
Ensembl chr 2:65,451,115...65,597,791
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Scn8a
sodium channel, voltage-gated, type VIII, alpha
ISO
ClinVar Annotator: match by term: Myoclonus
ClinVar
PMID:25741868 PMID:28492532
NCBI chr15:100,766,600...100,943,819
Ensembl chr15:100,767,739...100,943,819
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Tbc1d24
TBC1 domain family, member 24
ISO
ClinVar Annotator: match by term: Myoclonus
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr17:24,394,405...24,424,536
Ensembl chr17:24,394,405...24,424,536
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Tnxb
tenascin XB
ISO
ClinVar Annotator: match by term: Myoclonus
ClinVar
PMID:25741868
NCBI chr17:34,879,427...34,938,789
Ensembl chr17:34,879,431...34,938,789
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Atn1
atrophin 1
ISO
ClinVar Annotator: match by term: Dentatorubral-pallidoluysian atrophy
OMIM ClinVar
PMID:25741868
NCBI chr 6:124,719,507...124,733,450
Ensembl chr 6:124,719,507...124,733,487 Ensembl chr 6:124,719,507...124,733,487
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Pidd1
p53 induced death domain protein 1
ISO
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 3
ClinVar
PMID:25741868
NCBI chr 7:141,018,026...141,027,477
Ensembl chr 7:141,018,026...141,023,938
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Slc25a22
solute carrier family 25 (mitochondrial carrier, glutamate), 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 7:141,009,662...141,017,787
Ensembl chr 7:141,009,657...141,017,805
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Cgn
cingulin
ISO
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar
PMID:25894286 PMID:28492532
NCBI chr 3:94,667,376...94,695,036
Ensembl chr 3:94,667,376...94,693,826
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Gabrg2
gamma-aminobutyric acid type A receptor, subunit gamma 2
ISO
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar
NCBI chr11:41,801,017...41,891,684
Ensembl chr11:41,801,030...41,891,684
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Lysmd1
LysM, putative peptidoglycan-binding, domain containing 1
ISO
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar
PMID:28492532
NCBI chr 3:95,041,399...95,046,836
Ensembl chr 3:95,041,399...95,046,829
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Pi4kb
phosphatidylinositol 4-kinase beta
ISO
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar
PMID:28492532
NCBI chr 3:94,882,042...94,914,248
Ensembl chr 3:94,882,042...94,914,154
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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 3:94,965,841...95,014,241
Ensembl chr 3:94,965,841...95,014,241
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Pogz
pogo transposable element with ZNF domain
ISO
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar
PMID:25894286 PMID:28492532
NCBI chr 3:94,730,289...94,790,888
Ensembl chr 3:94,744,878...94,789,637
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Psmb4
proteasome (prosome, macropain) subunit, beta type 4
ISO
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar
PMID:25894286 PMID:28492532
NCBI chr 3:94,791,635...94,794,269
Ensembl chr 3:94,791,404...94,794,272
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Psmd4
proteasome (prosome, macropain) 26S subunit, non-ATPase, 4
ISO
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar
PMID:28492532
NCBI chr 3:94,939,999...94,949,880
Ensembl chr 3:94,940,005...94,949,925
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Rfx5
regulatory factor X, 5 (influences HLA class II expression)
ISO
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar
PMID:25894286 PMID:28492532
NCBI chr 3:94,861,355...94,868,685
Ensembl chr 3:94,861,386...94,868,872
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Scn1a
sodium channel, voltage-gated, type I, alpha
ISO IAGP
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 2:66,101,125...66,271,181
Ensembl chr 2:66,101,122...66,271,184
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Scn1b
sodium channel, voltage-gated, type I, beta
ISO
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar
PMID:28492532
NCBI chr 7:30,815,949...30,826,436
Ensembl chr 7:30,815,949...30,826,428
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Scn2a
sodium channel, voltage-gated, type II, alpha
ISO
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar
NCBI chr 2:65,451,108...65,597,791
Ensembl chr 2:65,451,115...65,597,791
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Scn9a
sodium channel, voltage-gated, type IX, alpha
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...
NCBI chr 2:66,310,424...66,465,456
Ensembl chr 2:66,310,424...66,465,306
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Scnm1
sodium channel modifier 1
ISO
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar
PMID:28492532
NCBI chr 3:95,037,030...95,041,285
Ensembl chr 3:95,036,847...95,041,322
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Selenbp1
selenium binding protein 1
ISO
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar
PMID:25894286 PMID:28492532
NCBI chr 3:94,840,394...94,852,069
Ensembl chr 3:94,840,367...94,852,069
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Snx27
sorting nexin family member 27
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...
NCBI chr 3:94,404,849...94,490,023
Ensembl chr 3:94,404,851...94,490,023
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Tmod4
tropomodulin 4
ISO
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar
PMID:28492532
NCBI chr 3:95,030,110...95,036,520
Ensembl chr 3:95,031,787...95,036,520
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Tnfaip8l2
tumor necrosis factor, alpha-induced protein 8-like 2
ISO
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar
PMID:28492532
NCBI chr 3:95,046,832...95,051,581
Ensembl chr 3:95,046,832...95,049,671
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Tuft1
tuftelin 1
ISO
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar
PMID:25894286 PMID:28492532
NCBI chr 3:94,520,060...94,566,179
Ensembl chr 3:94,520,064...94,566,179
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Vps72
vacuolar protein sorting 72
ISO
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar
PMID:28492532
NCBI chr 3:95,018,353...95,030,362
Ensembl chr 3:95,018,333...95,030,362
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Zfp687
zinc finger protein 687
ISO
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar
PMID:28492532
NCBI chr 3:94,901,726...94,923,259
Ensembl chr 3:94,913,901...94,922,759
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Ccnf
cyclin F
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...
NCBI chr17:24,441,518...24,470,333
Ensembl chr17:24,441,172...24,470,458
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Diras1
DIRAS family, GTP-binding RAS-like 1
ISO
Epilepsy, generalized myoclonic, with photosensitivity
OMIA
PMID:28223533 PMID:29194766 PMID:38003185
NCBI chr10:80,855,423...80,862,038
Ensembl chr10:80,855,423...80,861,496
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Egr2
early growth response 2
ISO
ClinVar Annotator: match by term: Early myoclonic encephalopathy
ClinVar
PMID:28492532
NCBI chr10:67,370,334...67,383,354
Ensembl chr10:67,371,305...67,378,018
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Jmjd1c
jumonji domain containing 1C
ISO
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:25741868 PMID:26181491 PMID:28166811 PMID:28492532 PMID:31785789 PMID:31954878 More...
NCBI chr10:66,932,189...67,092,105
Ensembl chr10:66,931,904...67,092,105
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Kcnd2
potassium voltage-gated channel, Shal-related family, member 2
ISO
ClinVar Annotator: match by term: Early myoclonic encephalopathy ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19171772 PMID:24501278 PMID:25214526 PMID:25640679 PMID:25741868 PMID:28166811 PMID:28492532 PMID:29581270 PMID:30571183 PMID:31130284 PMID:34245260 PMID:35510384 PMID:35897654 More...
NCBI chr 6:21,212,101...21,729,804
Ensembl chr 6:21,215,502...21,729,804
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Kit
KIT proto-oncogene receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:75,735,647...75,817,382
Ensembl chr 5:75,735,576...75,817,382
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Nrbf2
nuclear receptor binding factor 2
ISO
ClinVar Annotator: match by term: Early myoclonic encephalopathy
ClinVar
PMID:28492532
NCBI chr10:67,102,463...67,121,076
Ensembl chr10:67,102,468...67,121,084
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Opa1
OPA1, mitochondrial dynamin like GTPase
ISO
ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile
ClinVar
PMID:25326637 PMID:28492532
NCBI chr16:29,398,099...29,481,924
Ensembl chr16:29,398,152...29,473,702
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Scn1a
sodium channel, voltage-gated, type I, alpha
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...
NCBI chr 2:66,101,125...66,271,181
Ensembl chr 2:66,101,122...66,271,184
G
Scn9a
sodium channel, voltage-gated, type IX, alpha
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...
NCBI chr 2:66,310,424...66,465,456
Ensembl chr 2:66,310,424...66,465,306
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Slc25a22
solute carrier family 25 (mitochondrial carrier, glutamate), member 22
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...
NCBI chr 7:141,009,662...141,017,787
Ensembl chr 7:141,009,657...141,017,805
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Snx27
sorting nexin family member 27
ISO
ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:94,404,849...94,490,023
Ensembl chr 3:94,404,851...94,490,023
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Tbc1d24
TBC1 domain family, member 24
ISO
ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile
ClinVar
PMID:18414213 PMID:22277662 PMID:23526554 PMID:24033266 PMID:24291220 PMID:24848745 PMID:25741868 PMID:25769375 PMID:26371875 PMID:26467025 PMID:27259978 PMID:27281533 PMID:28292732 PMID:28301460 PMID:28428906 PMID:28492532 PMID:28726039 PMID:28951997 PMID:29358611 PMID:30180405 PMID:30311386 PMID:30776697 PMID:31112829 PMID:31216405 PMID:32004315 PMID:33619735 More...
NCBI chr17:24,394,405...24,424,536
Ensembl chr17:24,394,405...24,424,536
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Tspan12
tetraspanin 12
ISO
ClinVar Annotator: match by term: Early myoclonic encephalopathy
ClinVar
PMID:28492532
NCBI chr 6:21,771,390...21,879,557
Ensembl chr 6:21,771,394...21,852,514
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Tuba1a
tubulin, alpha 1A
ISO
ClinVar Annotator: match by term: Early myoclonic encephalopathy
ClinVar
PMID:25741868 PMID:28492532 PMID:30744660 PMID:31833200
NCBI chr15:98,847,728...98,851,382
Ensembl chr15:98,847,718...98,851,584
G
Samd12
sterile alpha motif domain containing 12
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 1 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868
NCBI chr15:53,262,514...53,765,926
Ensembl chr15:53,317,206...53,765,933
G
Adra2b
adrenergic receptor, alpha 2b
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 2
ClinVar
PMID:25741868 PMID:27124789 PMID:27431290 PMID:31130284 PMID:37644014
NCBI chr 2:127,205,099...127,209,141
Ensembl chr 2:127,205,128...127,209,141
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Stard7
StAR related lipid transfer domain containing 7
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 2
OMIM CTD ClinVar
PMID:25741868
NCBI chr 2:127,112,123...127,140,855
Ensembl chr 2:127,112,138...127,140,852
G
Marchf6
membrane associated ring-CH-type finger 6
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 3 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868
NCBI chr15:31,456,045...31,531,172
Ensembl chr15:31,456,037...31,531,199
G
Yeats2
YEATS domain containing 2
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
NCBI chr16:19,959,803...20,051,323
Ensembl chr16:19,959,813...20,051,323
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Adipor1
adiponectin receptor 1
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:134,343,116...134,361,089
Ensembl chr 1:134,343,116...134,361,089
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Adora1
adenosine A1 receptor
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:134,126,953...134,163,195
Ensembl chr 1:134,126,963...134,163,169
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Arl8a
ADP-ribosylation factor-like 8A
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:135,074,572...135,084,007
Ensembl chr 1:135,074,562...135,084,007
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Ascl5
achaete-scute family bHLH transcription factor 5
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:135,978,321...135,979,810
Ensembl chr 1:135,978,542...135,979,108
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Atp2b4
ATPase, Ca++ transporting, plasma membrane 4
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:133,630,416...133,728,755
Ensembl chr 1:133,627,195...133,728,779
G
Avpr1b
arginine vasopressin receptor 1B
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:131,526,908...131,539,740
Ensembl chr 1:131,526,977...131,539,738
G
Btg2
BTG anti-proliferation factor 2
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:134,002,603...134,006,893
Ensembl chr 1:134,002,908...134,006,858
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Cacna1s
calcium channel, voltage-dependent, L type, alpha 1S subunit
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:135,980,549...136,047,268
Ensembl chr 1:135,980,488...136,047,560
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Camsap2
calmodulin regulated spectrin-associated protein family, member 2
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:136,195,861...136,273,855
Ensembl chr 1:136,195,861...136,273,842
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Cdk18
cyclin dependent kinase 18
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:132,041,285...132,067,433
Ensembl chr 1:132,039,975...132,067,422
G
Chi3l1
chitinase 3 like 1
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:134,109,894...134,117,769
Ensembl chr 1:134,109,914...134,117,919
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Chit1
chitinase 1
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:134,038,980...134,079,279
Ensembl chr 1:134,038,980...134,079,278
G
Cntn2
contactin 2
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...
NCBI chr 1:132,437,163...132,470,989
Ensembl chr 1:132,437,165...132,470,994
G
Csrp1
cysteine and glycine-rich protein 1
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:135,614,650...135,679,970
Ensembl chr 1:135,647,799...135,679,970
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Ctse
cathepsin E
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:131,566,052...131,603,245
Ensembl chr 1:131,566,044...131,603,243
G
Cyb5r1
cytochrome b5 reductase 1
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:134,333,519...134,339,476
Ensembl chr 1:134,333,297...134,339,478
G
Ddx59
DEAD box helicase 59
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:136,343,009...136,384,019
Ensembl chr 1:136,343,009...136,367,896
G
Dstyk
dual serine/threonine and tyrosine protein kinase
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:132,345,127...132,394,697
Ensembl chr 1:132,345,293...132,394,696
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Dyrk3
dual-specificity tyrosine phosphorylation regulated kinase 3
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:131,056,178...131,065,991
Ensembl chr 1:131,055,192...131,066,077
G
Eif2d
eukaryotic translation initiation factor 2D
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:131,080,903...131,115,396
Ensembl chr 1:131,080,918...131,115,395
G
Elf3
E74-like factor 3
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:135,181,312...135,186,210
Ensembl chr 1:135,181,313...135,186,306
G
Elk4
ELK4, member of ETS oncogene family
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:131,935,129...131,954,186
Ensembl chr 1:131,935,345...131,960,350
G
Etnk2
ethanolamine kinase 2
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:133,291,308...133,308,056
Ensembl chr 1:133,291,310...133,308,074
G
Fam72a
family with sequence similarity 72, member A
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:131,454,336...131,466,773
Ensembl chr 1:131,455,641...131,467,610
G
Fmod
fibromodulin
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:133,964,992...133,976,018
Ensembl chr 1:133,964,992...133,976,015
G
Golt1a
golgi transport 1A
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:133,237,561...133,250,764
Ensembl chr 1:133,237,538...133,250,764 Ensembl chr 1:133,237,538...133,250,764
G
Gpr25
G protein-coupled receptor 25
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:136,186,652...136,188,664
Ensembl chr 1:136,187,535...136,188,611
G
Gpr37l1
G protein-coupled receptor 37-like 1
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:135,087,988...135,095,419
Ensembl chr 1:135,087,972...135,095,419
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 chr 1:135,880,943...135,968,663
Ensembl chr 1:135,881,316...135,934,080
G
Ikbke
inhibitor of kappaB kinase epsilon
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:131,182,337...131,207,339
Ensembl chr 1:131,182,080...131,207,344
G
Il10
interleukin 10
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
G
Inava
innate immunity activator
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:136,141,259...136,162,045
Ensembl chr 1:136,141,269...136,162,002
G
Ipo9
importin 9
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:135,310,050...135,358,260
Ensembl chr 1:135,310,050...135,358,237
G
Kdm5b
lysine demethylase 5B
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:134,487,916...134,560,621
Ensembl chr 1:134,487,909...134,563,023
G
Kif14
kinesin family member 14
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:136,394,044...136,483,676
Ensembl chr 1:136,394,081...136,459,249
G
Kif21b
kinesin family member 21B
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:136,059,128...136,105,739
Ensembl chr 1:136,059,127...136,105,736
G
Kiss1
KiSS-1 metastasis-suppressor
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:133,249,625...133,257,460
Ensembl chr 1:133,237,565...133,257,460 Ensembl chr 1:133,237,565...133,257,460
G
Klhdc8a
kelch domain containing 8A
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:132,226,352...132,236,216
Ensembl chr 1:132,226,364...132,235,095
G
Klhl12
kelch-like 12
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:134,383,269...134,418,611
Ensembl chr 1:134,383,269...134,418,756
G
Lad1
ladinin
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:135,746,336...135,761,079
Ensembl chr 1:135,746,336...135,761,080
G
Lax1
lymphocyte transmembrane adaptor 1
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:133,606,767...133,620,760
Ensembl chr 1:133,606,829...133,617,846
G
Lemd1
LEM domain containing 1
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:132,118,361...132,185,120
Ensembl chr 1:132,119,169...132,186,965
G
Lgr6
leucine-rich repeat-containing G protein-coupled receptor 6
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:134,911,038...135,033,112
Ensembl chr 1:134,911,039...135,033,014
G
Lmod1
leiomodin 1 (smooth muscle)
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:135,252,551...135,295,803
Ensembl chr 1:135,252,545...135,295,803
G
Lrrn2
leucine rich repeat protein 2, neuronal
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:132,808,093...132,867,743
Ensembl chr 1:132,808,011...132,867,743
G
Mapkapk2
MAP kinase-activated protein kinase 2
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:130,981,437...131,025,580
Ensembl chr 1:130,981,437...131,025,563
G
Mdm4
transformed mouse 3T3 cell double minute 4
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:132,913,843...132,958,325
Ensembl chr 1:132,887,222...132,958,299
G
Mfsd4a
major facilitator superfamily domain containing 4A
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:131,947,543...131,997,400
Ensembl chr 1:131,950,544...131,995,800
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Mybph
myosin binding protein H
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:134,121,159...134,128,975
Ensembl chr 1:134,121,186...134,128,970
G
Myog
myogenin
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:134,217,742...134,220,286
Ensembl chr 1:134,217,727...134,220,286
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Nav1
neuron navigator 1
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:135,362,318...135,616,082
Ensembl chr 1:135,362,318...135,615,843
G
Nfasc
neurofascin
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:132,492,428...132,669,567
Ensembl chr 1:132,492,428...132,669,535
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Nuak2
NUAK family, SNF1-like kinase, 2
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:132,243,827...132,261,233
Ensembl chr 1:132,243,864...132,261,226
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Nucks1
nuclear casein kinase and cyclin-dependent kinase substrate 1
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:131,838,196...131,864,059
Ensembl chr 1:131,838,272...131,864,059
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Optc
opticin
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:133,824,937...133,837,344
Ensembl chr 1:133,824,937...133,835,737
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Phlda3
pleckstrin homology like domain, family A, member 3
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:135,693,823...135,696,872
Ensembl chr 1:135,693,857...135,696,874
G
Pik3c2b
phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:132,973,410...133,036,429
Ensembl chr 1:132,973,405...133,036,425
G
Pkp1
plakophilin 1
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:135,799,132...135,846,945
Ensembl chr 1:135,799,133...135,846,945
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Plekha6
pleckstrin homology domain containing, family A member 6
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:133,089,770...133,231,173
Ensembl chr 1:133,091,948...133,231,173
G
Pm20d1
peptidase M20 domain containing 1
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:131,725,122...131,749,210
Ensembl chr 1:131,725,119...131,749,211
G
Ppfia4
protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:134,224,521...134,272,493
Ensembl chr 1:134,224,521...134,260,666
G
Ppp1r12b
protein phosphatase 1, regulatory subunit 12B
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:134,682,396...134,883,699
Ensembl chr 1:134,682,396...134,883,680
G
Ppp1r15b
protein phosphatase 1, regulatory subunit 15B
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:133,058,904...133,067,538
Ensembl chr 1:133,058,881...133,067,521
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Prelp
proline arginine-rich end leucine-rich repeat
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:133,838,042...133,857,820
Ensembl chr 1:133,838,042...133,849,152
G
Ptpn7
protein tyrosine phosphatase, non-receptor type 7
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:135,059,577...135,073,064
Ensembl chr 1:135,060,438...135,073,055
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Rab29
RAB29, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:131,795,004...131,801,003
Ensembl chr 1:131,794,962...131,800,625
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Rabif
RAB interacting factor
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:134,422,377...134,435,627
Ensembl chr 1:134,422,386...134,436,512
G
Rassf5
Ras association (RalGDS/AF-6) domain family member 5
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:131,104,147...131,172,915
Ensembl chr 1:131,104,147...131,172,995
G
Rbbp5
retinoblastoma binding protein 5, histone lysine methyltransferase complex subunit
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:132,405,087...132,436,382
Ensembl chr 1:132,405,103...132,433,397
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Ren1
renin 1 structural
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:133,278,412...133,288,058
Ensembl chr 1:133,278,248...133,288,063
G
Rnpep
arginyl aminopeptidase (aminopeptidase B)
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:135,190,447...135,211,765
Ensembl chr 1:135,190,450...135,211,822
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Shisa4
shisa family member 4
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:135,298,578...135,302,812
Ensembl chr 1:135,298,795...135,302,975
G
Slc26a9
solute carrier family 26, member 9
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:131,671,760...131,699,242
Ensembl chr 1:131,671,760...131,699,242
G
Slc41a1
solute carrier family 41, member 1
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:131,755,236...131,776,601
Ensembl chr 1:131,755,231...131,776,603
G
Slc45a3
solute carrier family 45, member 3
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:131,890,653...131,910,710
Ensembl chr 1:131,890,705...131,910,707
G
Snrpe
small nuclear ribonucleoprotein E
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:133,531,609...133,538,018
Ensembl chr 1:133,531,609...133,538,029
G
Sox13
SRY (sex determining region Y)-box 13
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:133,310,038...133,352,159
Ensembl chr 1:133,310,041...133,352,115
G
Srgap2
SLIT-ROBO Rho GTPase activating protein 2
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:131,212,989...131,455,269
Ensembl chr 1:131,212,989...131,455,090
G
Syt2
synaptotagmin II
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:134,574,319...134,680,887
Ensembl chr 1:134,574,415...134,690,331
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Timm17a
translocase of inner mitochondrial membrane 17a
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:135,229,273...135,241,475
Ensembl chr 1:135,222,951...135,241,516
G
Tmcc2
transmembrane and coiled-coil domains 2
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:132,284,053...132,319,661
Ensembl chr 1:132,284,053...132,319,019
G
Tmem183a
transmembrane protein 183A
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:134,273,834...134,289,765
Ensembl chr 1:134,273,835...134,289,717
G
Tmem81
transmembrane protein 81
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:132,433,968...132,436,382
Ensembl chr 1:132,433,968...132,436,377
G
Tmem9
transmembrane protein 9
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:135,935,957...135,962,768
Ensembl chr 1:135,935,888...135,963,080
G
Tnni1
troponin I, skeletal, slow 1
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:135,709,252...135,738,727
Ensembl chr 1:135,707,172...135,738,727
G
Tnnt2
troponin T2, cardiac
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:135,763,933...135,780,006
Ensembl chr 1:135,764,092...135,779,998
G
Ube2t
ubiquitin-conjugating enzyme E2T
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:134,890,303...134,901,918
Ensembl chr 1:134,890,303...134,901,900
G
Zbed6
zinc finger, BED type containing 6
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:133,547,606...133,589,112
Ensembl chr 1:133,547,678...133,589,056
G
Zc3h11a
zinc finger CCCH type containing 11A
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar
PMID:28492532
NCBI chr 1:133,547,600...133,589,137
Ensembl chr 1:133,547,600...133,589,118
G
Tnrc6a
trinucleotide repeat containing 6a
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 6
OMIM ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:122,630,324...122,794,519
Ensembl chr 7:122,723,108...122,794,519
G
Rapgef2
Rap guanine nucleotide exchange factor (GEF) 2
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 7
OMIM ClinVar
PMID:25741868
NCBI chr 3:78,969,818...79,194,681
Ensembl chr 3:78,969,823...79,193,824
G
Pdcd10
programmed cell death 10
ISO
ClinVar Annotator: match by term: Encephalopathy, familial, with Collins bodies | ClinVar Annotator: match by term: Familial encephalopathy with neuroserpin inclusion bodies
ClinVar
PMID:15543491 PMID:18300272 PMID:23801932 PMID:25741868 PMID:28492532
NCBI chr 3:75,423,797...75,464,159
Ensembl chr 3:75,423,797...75,464,163
G
Serpinb7
serine (or cysteine) peptidase inhibitor, clade B, member 7
ISO
RGD
PMID:16782060
RGD:7207386
NCBI chr 1:107,350,418...107,380,419
Ensembl chr 1:107,327,385...107,380,419
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Serpini1
serine (or cysteine) peptidase inhibitor, clade I, member 1
ISO IAGP
ClinVar Annotator: match by term: Encephalopathy, familial, with Collins bodies | ClinVar Annotator: match by term: Familial encephalopathy with neuroserpin inclusion bodies CTD Direct Evidence: marker/mechanism OMIM:604218
OMIM ClinVar CTD MouseDO
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 3:75,464,800...75,549,830
Ensembl chr 3:75,464,854...75,550,802
G
Nol3
nucleolar protein 3 (apoptosis repressor with CARD domain)
ISO
ClinVar Annotator: match by term: Myoclonus, familial, 1
OMIM ClinVar
PMID:22926851 PMID:25741868
NCBI chr 8:106,002,777...106,008,571
Ensembl chr 8:106,002,772...106,008,571
G
Scn8a
sodium channel, voltage-gated, type VIII, alpha
ISO
ClinVar Annotator: match by term: Myoclonus, familial, 2
OMIM ClinVar
PMID:25741868 PMID:26467025 PMID:27875746 PMID:28492532 PMID:29726066 PMID:30951195 More...
NCBI chr15:100,766,600...100,943,819
Ensembl chr15:100,767,739...100,943,819
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Clcn2
chloride channel, voltage-sensitive 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 chr16:20,521,185...20,536,496
Ensembl chr16:20,521,714...20,536,496
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Gabra1
gamma-aminobutyric acid type A receptor subunit alpha 1
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 chr11:42,021,766...42,073,893
Ensembl chr11:42,021,766...42,073,757
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Chrna7
cholinergic receptor, nicotinic, alpha polypeptide 7
ISO
ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7
ClinVar
PMID:25326635 PMID:25741868
NCBI chr 7:62,748,440...62,862,274
Ensembl chr 7:62,748,440...62,862,317
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Efhc1
EF-hand domain (C-terminal) containing 1
ISO
ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:21,021,776...21,061,065
Ensembl chr 1:21,021,850...21,061,065
G
Scn3a
sodium channel, voltage-gated, type III, alpha
ISO
ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7
ClinVar
PMID:25741868
NCBI chr 2:65,287,462...65,397,935
Ensembl chr 2:65,288,607...65,397,971
G
Sdha
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
ISO
ClinVar Annotator: match by term: Infantile polymyoclonus
ClinVar
PMID:22955521 PMID:22974104 PMID:24781757 PMID:25720320 PMID:25741868 PMID:28492532 PMID:29177515 PMID:29978154 PMID:30854332 PMID:30877234 PMID:31589614 PMID:31981491 PMID:32581362 PMID:33854214 More...
NCBI chr13:74,470,374...74,498,359
Ensembl chr13:74,470,373...74,498,399
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Brd2
bromodomain containing 2
ISO
DNA:SNPs:promoter (human)
RGD
PMID:12830434
RGD:1358444
NCBI chr17:34,330,993...34,341,581
Ensembl chr17:34,330,997...34,341,608
G
Cacna1g
calcium channel, voltage-dependent, T type, alpha 1G subunit
ISO
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy
ClinVar
NCBI chr11:94,299,217...94,365,226
Ensembl chr11:94,299,217...94,365,024
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Cacnb4
calcium channel, voltage-dependent, beta 4 subunit
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 2:52,318,332...52,566,816
Ensembl chr 2:52,318,337...52,566,843
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Caprin1
cell cycle associated protein 1
ISO
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy
ClinVar
PMID:25741868 PMID:35979925
NCBI chr 2:103,593,292...103,627,946
Ensembl chr 2:103,593,286...103,627,994
G
Chrna1
cholinergic receptor nicotinic alpha 1 subunit
ISO
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:73,393,625...73,410,682
Ensembl chr 2:73,393,559...73,410,682
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Efhc1
EF-hand domain (C-terminal) containing 1
susceptibility
IAGP ISO
OMIM:254770 | OMIM:608816 | OMIM:611364 | OMIM:614280 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 CTD Direct Evidence: marker/mechanism
MouseDO ClinVar CTD OMIM
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...
NCBI chr 1:21,021,776...21,061,065
Ensembl chr 1:21,021,850...21,061,065
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Gabra1
gamma-aminobutyric acid type A receptor subunit alpha 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Juvenile myoclonic epilepsy
CTD ClinVar
NCBI chr11:42,021,766...42,073,893
Ensembl chr11:42,021,766...42,073,757
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Hsd17b3
hydroxysteroid (17-beta) dehydrogenase 3
ISO
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy
ClinVar
PMID:27899157 PMID:28492532 PMID:33468338 PMID:35432193 PMID:36110220 PMID:37741351 More...
NCBI chr13:64,206,088...64,237,076
Ensembl chr13:64,206,080...64,237,044
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Jrk
jerky
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11463517
NCBI chr15:74,574,261...74,581,171
Ensembl chr15:74,574,150...74,581,384
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Cilk1
ciliogenesis associated kinase 1
ISO
ClinVar Annotator: match by term: CILK1-related condition
ClinVar OMIM
PMID:25741868 PMID:28492532
NCBI chr 9:78,016,425...78,079,396
Ensembl chr 9:78,016,474...78,079,389
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Epm2a
epilepsy, progressive myoclonic epilepsy, type 2 gene alpha
IAGP ISO
OMIM:254780 ClinVar Annotator: match by term: Lafora disease CTD Direct Evidence: marker/mechanism
MouseDO ClinVar CTD
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...
NCBI chr10:11,218,435...11,335,408
Ensembl chr10:11,219,148...11,335,388
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Nhlrc1
NHL repeat containing 1
IAGP 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...
NCBI chr13:47,166,033...47,168,326
Ensembl chr13:47,166,033...47,168,326
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Tpmt
thiopurine methyltransferase
ISO
ClinVar Annotator: match by term: Lafora disease
ClinVar
PMID:15781812 PMID:17389303 PMID:23317923 PMID:28492532
NCBI chr13:47,175,463...47,196,833
Ensembl chr13:47,175,958...47,198,213
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Il1a
interleukin 1 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7979221
NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7979221
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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mt-Nd5
NADH dehydrogenase 5, mitochondrial
ISO
ClinVar Annotator: match by term: MERRF syndrome
ClinVar
PMID:15767514 PMID:16816025 PMID:17400793 PMID:18332249 PMID:25741868
NCBI chr MT:11,742...13,565
Ensembl chr MT:11,742...13,565
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mt-Tf
tRNA phenylalanine, mitochondrial
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: MERRF syndrome
CTD ClinVar
PMID:15184630 PMID:17878308
NCBI chr MT:1...68
Ensembl chr MT:1...68
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mt-Ti
tRNA isoleucine, mitochondrial
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: MERRF syndrome
CTD ClinVar
PMID:11782991 PMID:12767666 PMID:21982779 PMID:31965079 PMID:32906214
NCBI chr MT:3,706...3,774
Ensembl chr MT:3,706...3,774
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mt-Tk
tRNA lysine, mitochondrial
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: MERRF syndrome | ClinVar Annotator: match by term: Myoencephalopathy ragged-red fiber disease
CTD ClinVar
PMID:1324294 PMID:1334369 PMID:1361099 PMID:1463005 PMID:1487239 PMID:1661776 PMID:1678125 PMID:1899320 PMID:1900002 PMID:1910259 PMID:1910341 PMID:2112427 PMID:2124116 PMID:7647790 PMID:8069654 PMID:8069655 PMID:8170567 PMID:8198140 PMID:8264702 PMID:8447321 PMID:8513395 PMID:8602753 PMID:8651277 PMID:9529371 PMID:9674814 PMID:10699170 PMID:12784281 PMID:14681892 PMID:15164143 PMID:16551460 PMID:17200493 PMID:17275787 PMID:17293137 PMID:18657354 PMID:19269823 PMID:20301693 PMID:20581069 PMID:20610441 PMID:25741868 PMID:27155576 PMID:31965079 PMID:32906214 More...
NCBI chr MT:7,700...7,764
Ensembl chr MT:7,700...7,764
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mt-Tl1
tRNA leucine 1, mitochondrial
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: MERRF syndrome | ClinVar Annotator: match by term: Myoencephalopathy ragged-red fiber disease
CTD ClinVar
PMID:1284550 PMID:1315123 PMID:1323207 PMID:1360090 PMID:1454794 PMID:1586140 PMID:1684568 PMID:1715668 PMID:1732728 PMID:1932147 PMID:2102678 PMID:2268345 PMID:7473662 PMID:7554321 PMID:7603512 PMID:7649539 PMID:7714102 PMID:7804130 PMID:7931425 PMID:8094200 PMID:8151636 PMID:8254046 PMID:8280119 PMID:8442706 PMID:8541865 PMID:8603770 PMID:8723071 PMID:8723072 PMID:8818955 PMID:8825603 PMID:9109727 PMID:9222976 PMID:9243242 PMID:9382149 PMID:9465864 PMID:9506761 PMID:9619647 PMID:9683591 PMID:9744809 PMID:9798744 PMID:9874606 PMID:10356136 PMID:10366077 PMID:10407850 PMID:10482110 PMID:10514449 PMID:10660592 PMID:10699170 PMID:10858457 PMID:11085913 PMID:11096278 PMID:11175302 PMID:11241464 PMID:11320187 PMID:11379873 PMID:11587074 PMID:11708999 PMID:11723298 PMID:11840193 PMID:12527767 PMID:12612863 PMID:12729737 PMID:12905015 PMID:15032978 PMID:15372523 PMID:15629304 PMID:15870203 PMID:16006433 PMID:16120315 PMID:16326995 PMID:16336784 PMID:16384802 PMID:16950816 PMID:17018649 PMID:17172609 PMID:17564976 PMID:17656376 PMID:17823937 PMID:18252214 PMID:18306232 PMID:18674747 PMID:18753147 PMID:19139304 PMID:19349610 PMID:20550934 PMID:20610441 PMID:20697048 PMID:23243073 PMID:23900320 PMID:25741868 PMID:26822237 PMID:27296531 PMID:31965079 PMID:32313153 PMID:32906214 More...
NCBI chr MT:2,676...2,750
Ensembl chr MT:2,676...2,750
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mt-Tp
tRNA proline, mitochondrial
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: MERFF syndrome | ClinVar Annotator: match by term: MERRF syndrome
CTD ClinVar
PMID:11196116 PMID:19273760 PMID:19718780 PMID:31965079
NCBI chr MT:15,356...15,422
Ensembl chr MT:15,356...15,422
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mt-Th
tRNA histidine, mitochondrial
ISO
ClinVar Annotator: match by term: MERRF/MELAS overlap syndrome
ClinVar
PMID:14967777 PMID:15111688 PMID:31965079 PMID:32906214
NCBI chr MT:11,546...11,612
Ensembl chr MT:11,546...11,612
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mt-Tk
tRNA lysine, mitochondrial
ISO
ClinVar Annotator: match by term: MERRF/MELAS overlap syndrome
ClinVar
PMID:1361099 PMID:8069654 PMID:20301693 PMID:20610441 PMID:31965079 PMID:32906214 More...
NCBI chr MT:7,700...7,764
Ensembl chr MT:7,700...7,764
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mt-Tl1
tRNA leucine 1, mitochondrial
ISO
ClinVar Annotator: match by term: MERRF/MELAS overlap syndrome
ClinVar
PMID:1284550 PMID:1315123 PMID:1323207 PMID:1360090 PMID:1454794 PMID:1586140 PMID:1684568 PMID:1715668 PMID:1732728 PMID:2102678 PMID:2268345 PMID:7473662 PMID:7554321 PMID:7649539 PMID:7714102 PMID:7931425 PMID:8094200 PMID:8151636 PMID:8442706 PMID:8541865 PMID:8603770 PMID:8723071 PMID:8723072 PMID:8818955 PMID:8825603 PMID:9109727 PMID:9222976 PMID:9243242 PMID:9382149 PMID:9465864 PMID:9619647 PMID:9683591 PMID:9798744 PMID:9874606 PMID:10356136 PMID:10366077 PMID:10407850 PMID:10482110 PMID:10514449 PMID:10699170 PMID:10858457 PMID:11085913 PMID:11096278 PMID:11175302 PMID:11241464 PMID:11320187 PMID:11379873 PMID:11587074 PMID:11708999 PMID:11840193 PMID:12612863 PMID:12905015 PMID:15032978 PMID:15372523 PMID:15629304 PMID:16326995 PMID:16336784 PMID:16950816 PMID:17018649 PMID:17172609 PMID:17564976 PMID:17656376 PMID:17823937 PMID:18252214 PMID:18306232 PMID:18674747 PMID:18753147 PMID:19139304 PMID:19349610 PMID:20550934 PMID:20610441 PMID:20697048 PMID:23243073 PMID:23900320 PMID:25741868 PMID:26822237 PMID:27296531 PMID:31965079 PMID:32313153 More...
NCBI chr MT:2,676...2,750
Ensembl chr MT:2,676...2,750
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mt-Ts1
tRNA serine 1, mitochondrial
ISO
ClinVar Annotator: match by term: MERRF/MELAS overlap syndrome
ClinVar
PMID:7669057 PMID:9832034 PMID:17894844 PMID:31965079 PMID:32906214
NCBI chr MT:6,870...6,938
Ensembl chr MT:6,870...6,938
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mt-Ts2
tRNA serine 2, mitochondrial
ISO
ClinVar Annotator: match by term: MERRF/MELAS overlap syndrome
ClinVar
PMID:16950817
NCBI chr MT:11,613...11,671
Ensembl chr MT:11,613...11,671
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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 chr15:80,832,691...80,855,148
Ensembl chr15:80,832,691...80,855,147
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Atp2b2
ATPase, Ca++ transporting, plasma membrane 2
ISO
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy
ClinVar
PMID:25865495 PMID:28492532 PMID:31401500
NCBI chr 6:113,720,803...114,019,574
Ensembl chr 6:113,720,792...114,019,574
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Brk1
BRICK1, SCAR/WAVE actin-nucleating complex subunit
ISO
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy
ClinVar
PMID:25865495 PMID:28492532 PMID:31401500
NCBI chr 6:113,581,733...113,593,912
Ensembl chr 6:113,581,733...113,593,912
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Chd2
chromodomain helicase DNA binding protein 2
ISO
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy
ClinVar
NCBI chr 7:73,076,400...73,191,494
Ensembl chr 7:73,076,386...73,191,578
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Chrna2
cholinergic receptor nicotinic alpha 2 subunit
ISO
ClinVar Annotator: match by term: myoclonic epilepsy
ClinVar
PMID:28492532
NCBI chr14:66,370,685...66,390,397
Ensembl chr14:66,372,488...66,390,397
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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...
NCBI chr10:78,261,504...78,263,456
Ensembl chr10:78,261,503...78,263,456
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Epm2a
epilepsy, progressive myoclonic epilepsy, type 2 gene alpha
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...
NCBI chr10:11,218,435...11,335,408
Ensembl chr10:11,219,148...11,335,388
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Fancd2
Fanconi anemia, complementation group D2
ISO
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy
ClinVar
PMID:25865495 PMID:28492532 PMID:31401500
NCBI chr 6:113,508,622...113,573,981
Ensembl chr 6:113,508,643...113,573,978
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Fancd2os
Fancd2 opposite strand
ISO
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy
ClinVar
PMID:25865495 PMID:28492532 PMID:31401500
NCBI chr 6:113,573,722...113,577,735
Ensembl chr 6:113,573,722...113,577,676
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Ghrl
ghrelin
ISO
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy
ClinVar
PMID:25865495 PMID:28492532 PMID:31401500
NCBI chr 6:113,693,080...113,696,872
Ensembl chr 6:113,693,080...113,696,841
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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 chr11:103,567,675...103,590,139
Ensembl chr11:103,567,675...103,588,724
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Hnrnpu
heterogeneous nuclear ribonucleoprotein U
ISO
ClinVar Annotator: match by term: Myoclonic absence seizure
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:178,148,673...178,170,063
Ensembl chr 1:178,148,673...178,165,362
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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 6:113,615,428...113,671,987
Ensembl chr 6:113,615,428...113,671,987
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Kcnb1
potassium voltage gated channel, Shab-related subfamily, 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 2:166,937,889...167,032,088
Ensembl chr 2:166,937,889...167,032,075
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Lmnb2
lamin B2
ISO
ClinVar Annotator: match by term: Generalized myoclonic seizures
ClinVar
PMID:28492532
NCBI chr10:80,737,197...80,754,079
Ensembl chr10:80,737,037...80,754,079
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mt-Nd6
NADH dehydrogenase 6, mitochondrial
ISO
DNA:missense mutation: :m.14487T>C (p.M63V) (human)
RGD
PMID:20019223
RGD:6482231
NCBI chr MT:13,552...14,070
Ensembl chr MT:13,552...14,070
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Pmp22
peripheral myelin protein 22
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17275665
NCBI chr11:63,019,808...63,050,373
Ensembl chr11:63,019,808...63,050,373
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Pomc
pro-opiomelanocortin-alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:6088243
NCBI chr12:4,004,945...4,010,643
Ensembl chr12:4,004,951...4,010,642
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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 6:92,347,876...92,683,233
Ensembl chr 6:92,347,889...92,683,136
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Prmt7
protein arginine N-methyltransferase 7
ISO
ClinVar Annotator: match by term: Generalized myoclonic seizures
ClinVar
PMID:25741868 PMID:33085104
NCBI chr 8:106,937,686...106,978,326
Ensembl chr 8:106,937,568...106,979,426
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Rapgef2
Rap guanine nucleotide exchange factor (GEF) 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29507423
NCBI chr 3:78,969,818...79,194,681
Ensembl chr 3:78,969,823...79,193,824
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Samd12
sterile alpha motif domain containing 12
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29507423
NCBI chr15:53,262,514...53,765,926
Ensembl chr15:53,317,206...53,765,933
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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 chr 5:92,589,170...92,653,516
Ensembl chr 5:92,589,173...92,654,692
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Scn1a
sodium channel, voltage-gated, type I, alpha
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...
NCBI chr 2:66,101,125...66,271,181
Ensembl chr 2:66,101,122...66,271,184
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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 6:113,705,013...113,717,642
Ensembl chr 6:113,705,023...113,717,704
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Sema6b
sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B
ISO
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy
ClinVar
PMID:25741868
NCBI chr17:56,430,085...56,447,343
Ensembl chr17:56,430,085...56,447,343
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Slc2a1
solute carrier family 2 (facilitated glucose transporter), member 1
ISO
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy
ClinVar
PMID:25741868
NCBI chr 4:118,966,001...118,994,527
Ensembl chr 4:118,965,908...118,995,180
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Slc6a1
solute carrier family 6 (neurotransmitter transporter, GABA), member 1
ISO
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy
ClinVar
PMID:9536098 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:28492532 PMID:28708303 PMID:28856709 PMID:29315614 PMID:29358611 PMID:30132828 PMID:30525188 PMID:31332282 PMID:31401500 PMID:31785789 PMID:31981491 PMID:32913952 PMID:33004838 PMID:34006619 PMID:34028503 PMID:34653234 PMID:35701389 PMID:35761184 PMID:36674476 PMID:36895422 PMID:37700749 More...
NCBI chr 6:114,259,735...114,294,491
Ensembl chr 6:114,259,596...114,294,493
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Slc6a11
solute carrier family 6 (neurotransmitter transporter, GABA), member 11
ISO
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy
ClinVar
PMID:25865495 PMID:28492532 PMID:31401500
NCBI chr 6:114,108,202...114,226,847
Ensembl chr 6:114,108,202...114,226,913
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Slc7a6os
solute carrier family 7, member 6 opposite strand
ISO
ClinVar Annotator: match by term: Generalized myoclonic seizures
ClinVar
PMID:25741868 PMID:33085104
NCBI chr 8:106,927,070...106,937,565
Ensembl chr 8:106,927,349...106,937,567
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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 4:117,789,349...117,992,169
Ensembl chr 4:117,789,351...117,992,111
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Stxbp1
syntaxin binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18469812 PMID:29929108
NCBI chr 2:32,677,619...32,737,249
Ensembl chr 2:32,677,614...32,737,257
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Tatdn2
TatD DNase domain containing 2
ISO
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy
ClinVar
PMID:25865495 PMID:28492532 PMID:31401500
NCBI chr 6:113,674,090...113,688,030
Ensembl chr 6:113,674,011...113,688,030
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Tnrc6a
trinucleotide repeat containing 6a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29507423
NCBI chr 7:122,630,324...122,794,519
Ensembl chr 7:122,723,108...122,794,519
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Vhl
von Hippel-Lindau tumor suppressor
ISO
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy
ClinVar
PMID:25865495 PMID:28492532 PMID:31401500
NCBI chr 6:113,600,955...113,608,595
Ensembl chr 6:113,600,920...113,608,594
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Epm2a
epilepsy, progressive myoclonic epilepsy, type 2 gene alpha
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...
NCBI chr10:11,218,435...11,335,408
Ensembl chr10:11,219,148...11,335,388
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Nhlrc1
NHL repeat containing 1
ISO
ClinVar Annotator: match by term: Myoclonic epilepsy of Lafora 1
ClinVar
PMID:25741868
NCBI chr13:47,166,033...47,168,326
Ensembl chr13:47,166,033...47,168,326
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Nhlrc1
NHL repeat containing 1
ISO
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 2b | ClinVar Annotator: match by term: Myoclonic epilepsy of Lafora 2
OMIM ClinVar
PMID:12958597 PMID:12960212 PMID:15781812 PMID:15930137 PMID:16134145 PMID:16190947 PMID:16311711 PMID:16529633 PMID:16950819 PMID:17389303 PMID:17952067 PMID:18029386 PMID:18256682 PMID:18263761 PMID:18311786 PMID:19267391 PMID:19744044 PMID:20301563 PMID:20738377 PMID:21505799 PMID:22047982 PMID:22815132 PMID:24452334 PMID:25270369 PMID:25401298 PMID:25667860 PMID:25683376 PMID:25741868 PMID:26467025 PMID:27194917 PMID:28492532 PMID:28556688 PMID:29431110 PMID:29588937 PMID:30701169 PMID:31227012 PMID:31758957 PMID:31858178 PMID:32587944 More...
NCBI chr13:47,166,033...47,168,326
Ensembl chr13:47,166,033...47,168,326
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Ccnf
cyclin F
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...
NCBI chr17:24,441,518...24,470,333
Ensembl chr17:24,441,172...24,470,458
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Kit
KIT proto-oncogene receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Familial infantile myoclonic epilepsy
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:75,735,647...75,817,382
Ensembl chr 5:75,735,576...75,817,382
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Opa1
OPA1, mitochondrial dynamin like GTPase
ISO
ClinVar Annotator: match by term: Familial infantile myoclonic epilepsy
ClinVar
PMID:25326637 PMID:28492532
NCBI chr16:29,398,099...29,481,924
Ensembl chr16:29,398,152...29,473,702
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Tbc1d24
TBC1 domain family, member 24
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...
RGD:11537393 , RGD:11537392
NCBI chr17:24,394,405...24,424,536
Ensembl chr17:24,394,405...24,424,536
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Arpc4
actin related protein 2/3 complex, subunit 4
ISO
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy
ClinVar
PMID:25865495 PMID:28492532 PMID:31401500
NCBI chr 6:113,355,074...113,367,408
Ensembl chr 6:113,355,076...113,367,409
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Atp1a3
ATPase, Na+/K+ transporting, alpha 3 polypeptide
ISO
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy
ClinVar
PMID:25741868
NCBI chr 7:24,677,592...24,705,338
Ensembl chr 7:24,677,592...24,705,383
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Atp2b2
ATPase, Ca++ transporting, plasma membrane 2
ISO
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy
ClinVar
PMID:25865495 PMID:28492532 PMID:31401500
NCBI chr 6:113,720,803...114,019,574
Ensembl chr 6:113,720,792...114,019,574
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Brk1
BRICK1, SCAR/WAVE actin-nucleating complex subunit
ISO
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy
ClinVar
PMID:25865495 PMID:28492532 PMID:31401500
NCBI chr 6:113,581,733...113,593,912
Ensembl chr 6:113,581,733...113,593,912
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Brpf1
bromodomain and PHD finger containing, 1
ISO
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy
ClinVar
PMID:25865495 PMID:28492532 PMID:31401500
NCBI chr 6:113,283,824...113,301,823
Ensembl chr 6:113,284,098...113,301,821
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Cacna1a
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
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...
NCBI chr 8:85,065,257...85,366,880
Ensembl chr 8:85,065,268...85,366,875
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Camk1
calcium/calmodulin-dependent protein kinase I
ISO
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy
ClinVar
PMID:25865495 PMID:28492532 PMID:31401500
NCBI chr 6:113,311,085...113,320,883
Ensembl chr 6:113,311,085...113,320,945
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Ccdc120
coiled-coil domain containing 120
ISO
ClinVar Annotator: match by term: Early onset epileptic encephalopathy
ClinVar
PMID:26173968
NCBI chr X:7,597,953...7,607,563
Ensembl chr X:7,597,953...7,617,144
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Chd2
chromodomain helicase DNA binding protein 2
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset
ClinVar
PMID:23708187 PMID:24207121 PMID:25741868 PMID:25783594 PMID:28492532 PMID:29358611 More...
NCBI chr 7:73,076,400...73,191,494
Ensembl chr 7:73,076,386...73,191,578
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Cidec
cell death-inducing DFFA-like effector c
ISO
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy
ClinVar
PMID:25865495 PMID:28492532 PMID:31401500
NCBI chr 6:113,401,595...113,412,721
Ensembl chr 6:113,401,595...113,412,721
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Cpne9
copine family member IX
ISO
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy
ClinVar
PMID:25865495 PMID:28492532 PMID:31401500
NCBI chr 6:113,259,244...113,282,532
Ensembl chr 6:113,259,268...113,282,588
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Creld1
cysteine-rich with EGF-like domains 1
ISO
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy
ClinVar
PMID:25865495 PMID:28492532 PMID:31401500
NCBI chr 6:113,460,317...113,470,304
Ensembl chr 6:113,460,258...113,470,304
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Dnm1
dynamin 1
IAGP
RGD
PMID:27363778
RGD:11557016
NCBI chr 2:32,198,483...32,243,361
Ensembl chr 2:32,198,483...32,243,350
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Emc3
ER membrane protein complex subunit 3
ISO
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy
ClinVar
PMID:25865495 PMID:28492532 PMID:31401500
NCBI chr 6:113,491,848...113,508,599
Ensembl chr 6:113,491,835...113,508,613
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Fancd2
Fanconi anemia, complementation group D2
ISO
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy
ClinVar
PMID:25865495 PMID:28492532 PMID:31401500
NCBI chr 6:113,508,622...113,573,981
Ensembl chr 6:113,508,643...113,573,978
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Fancd2os
Fancd2 opposite strand
ISO
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy
ClinVar
PMID:25865495 PMID:28492532 PMID:31401500
NCBI chr 6:113,573,722...113,577,735
Ensembl chr 6:113,573,722...113,577,676
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Fgf12
fibroblast growth factor 12
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...
NCBI chr16:27,976,535...28,571,995
Ensembl chr16:27,978,850...28,571,820
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Fmr1
fragile X messenger ribonucleoprotein 1
ISO
protein:decreased expression:hippocampus, cytosol (rat)
RGD
PMID:23831253
RGD:11667971
NCBI chr X:67,722,144...67,761,569
Ensembl chr X:67,722,147...67,761,569
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Ghrl
ghrelin
ISO
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy
ClinVar
PMID:25865495 PMID:28492532 PMID:31401500
NCBI chr 6:113,693,080...113,696,872
Ensembl chr 6:113,693,080...113,696,841
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Il17rc
interleukin 17 receptor C
ISO
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy
ClinVar
PMID:25865495 PMID:28492532 PMID:31401500
NCBI chr 6:113,448,416...113,460,124
Ensembl chr 6:113,448,388...113,460,101
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Il17re
interleukin 17 receptor E
ISO
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy
ClinVar
PMID:25865495 PMID:28492532 PMID:31401500
NCBI chr 6:113,435,659...113,447,719
Ensembl chr 6:113,435,445...113,447,719
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Iqsec2
IQ motif and Sec7 domain 2
ISO
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy
ClinVar
PMID:25741868
NCBI chr X:150,927,179...151,008,233
Ensembl chr X:150,927,193...151,008,232
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Irak2
interleukin-1 receptor-associated kinase 2
ISO
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy
ClinVar
PMID:25865495 PMID:28492532 PMID:31401500
NCBI chr 6:113,615,428...113,671,987
Ensembl chr 6:113,615,428...113,671,987
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Jagn1
jagunal homolog 1
ISO
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy
ClinVar
PMID:25865495 PMID:28492532 PMID:31401500
NCBI chr 6:113,419,478...113,425,190
Ensembl chr 6:113,419,530...113,425,190
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Limk1
LIM domain kinase 1
ISO
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy
ClinVar
NCBI chr 5:134,684,893...134,718,713
Ensembl chr 5:134,684,893...134,717,452
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Mtmr14
myotubularin related protein 14
ISO
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy
ClinVar
PMID:25865495 PMID:28492532 PMID:31401500
NCBI chr 6:113,214,596...113,258,353
Ensembl chr 6:113,214,804...113,258,353
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Ogg1
8-oxoguanine DNA-glycosylase 1
ISO
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy
ClinVar
PMID:25865495 PMID:28492532 PMID:31401500
NCBI chr 6:113,303,959...113,311,149
Ensembl chr 6:113,303,933...113,312,029
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Pik3ap1
phosphoinositide-3-kinase adaptor protein 1
ISO
ClinVar Annotator: match by term: Infantile spasm
ClinVar
PMID:25741868 PMID:28492532
NCBI chr19:41,260,980...41,373,541
Ensembl chr19:41,260,816...41,373,541
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Praf2
PRA1 domain family 2
ISO
ClinVar Annotator: match by term: Early onset epileptic encephalopathy
ClinVar
PMID:26173968
NCBI chr X:7,594,810...7,597,302
Ensembl chr X:7,594,678...7,597,303
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Prrt3
proline-rich transmembrane protein 3
ISO
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy
ClinVar
PMID:25865495 PMID:28492532 PMID:31401500
NCBI chr 6:113,470,599...113,479,071
Ensembl chr 6:113,470,600...113,478,892
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Ralgapa1
Ral GTPase activating protein, alpha subunit 1
ISO
ClinVar Annotator: match by term: Infantile spasm
ClinVar
PMID:32004447
NCBI chr12:55,649,673...55,868,522
Ensembl chr12:55,649,681...55,867,952
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Rbfox1
RNA binding protein, fox-1 homolog (C. elegans) 1
ISO
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy
ClinVar
PMID:25741868
NCBI chr16:5,702,566...7,230,344
Ensembl chr16:5,124,665...7,229,391
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Rpusd3
RNA pseudouridylate synthase domain containing 3
ISO
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy
ClinVar
PMID:25865495 PMID:28492532 PMID:31401500
NCBI chr 6:113,392,280...113,396,309
Ensembl chr 6:113,392,280...113,396,301
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Scn1a
sodium channel, voltage-gated, type I, alpha
ISO
ClinVar Annotator: match by term: Infantile spasm
ClinVar
PMID:18930999 PMID:19563458 PMID:20452746 PMID:22848613 PMID:25741868 PMID:28492532 More...
NCBI chr 2:66,101,125...66,271,181
Ensembl chr 2:66,101,122...66,271,184
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Scn1b
sodium channel, voltage-gated, type I, beta
ISO
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy
ClinVar
PMID:19710327 PMID:25741868 PMID:28218389 PMID:28492532 PMID:37845033
NCBI chr 7:30,815,949...30,826,436
Ensembl chr 7:30,815,949...30,826,428
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Scn2a
sodium channel, voltage-gated, type II, alpha
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood
ClinVar
PMID:25741868
NCBI chr 2:65,451,108...65,597,791
Ensembl chr 2:65,451,115...65,597,791
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Scn8a
sodium channel, voltage-gated, type VIII, alpha
ISO
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy
ClinVar
PMID:25741868 PMID:28492532
NCBI chr15:100,766,600...100,943,819
Ensembl chr15:100,767,739...100,943,819
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Sec13
SEC13 homolog, nuclear pore and COPII coat complex component
ISO
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy
ClinVar
PMID:25865495 PMID:28492532 PMID:31401500
NCBI chr 6:113,705,013...113,717,642
Ensembl chr 6:113,705,023...113,717,704
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Slc13a5
solute carrier family 13 (sodium-dependent citrate transporter), member 5
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...
NCBI chr11:72,132,816...72,158,092
Ensembl chr11:72,132,815...72,158,048
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Slc6a1
solute carrier family 6 (neurotransmitter transporter, GABA), member 1
ISO
ClinVar Annotator: match by term: Early onset epileptic encephalopathy | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder
OMIM ClinVar
PMID:9536098 PMID:14744863 PMID:15496410 PMID:16199547 PMID:17576681 PMID:19344873 PMID:22235131 PMID:22495306 PMID:24859339 PMID:25363768 PMID:25640679 PMID:25741868 PMID: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...
NCBI chr 6:114,259,735...114,294,491
Ensembl chr 6:114,259,596...114,294,493
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Slc6a11
solute carrier family 6 (neurotransmitter transporter, GABA), member 11
ISO
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy
ClinVar
PMID:25865495 PMID:28492532 PMID:31401500
NCBI chr 6:114,108,202...114,226,847
Ensembl chr 6:114,108,202...114,226,913
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Srgap2
SLIT-ROBO Rho GTPase activating protein 2
ISO
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy
ClinVar
PMID:25741868
NCBI chr 1:131,212,989...131,455,269
Ensembl chr 1:131,212,989...131,455,090
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Stxbp1
syntaxin binding protein 1
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...
NCBI chr 2:32,677,619...32,737,249
Ensembl chr 2:32,677,614...32,737,257
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Tada3
transcriptional adaptor 3
ISO
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy
ClinVar
PMID:25865495 PMID:28492532 PMID:31401500
NCBI chr 6:113,343,594...113,354,799
Ensembl chr 6:113,342,986...113,354,844
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Tatdn2
TatD DNase domain containing 2
ISO
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy
ClinVar
PMID:25865495 PMID:28492532 PMID:31401500
NCBI chr 6:113,674,090...113,688,030
Ensembl chr 6:113,674,011...113,688,030
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Tbc1d24
TBC1 domain family, member 24
ISO
DNA:misense, nonsense mutations:cds:c.468C>A (C156X), c.686T>C(F229S)(human)
RGD
PMID:23526554
RGD:11537471
NCBI chr17:24,394,405...24,424,536
Ensembl chr17:24,394,405...24,424,536
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Ttll3
tubulin tyrosine ligase-like family, member 3
ISO
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy
ClinVar
PMID:25865495 PMID:28492532 PMID:31401500
NCBI chr 6:113,366,221...113,391,553
Ensembl chr 6:113,366,221...113,391,548
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Vhl
von Hippel-Lindau tumor suppressor
ISO
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy
ClinVar
PMID:25865495 PMID:28492532 PMID:31401500
NCBI chr 6:113,600,955...113,608,595
Ensembl chr 6:113,600,920...113,608,594
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Wdr45
WD repeat domain 45
ISO
ClinVar Annotator: match by term: Early onset epileptic encephalopathy
ClinVar
PMID:26173968
NCBI chr X:7,588,212...7,594,439
Ensembl chr X:7,580,572...7,594,445
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Kif5a
kinesin family member 5A
susceptibility
ISO
ClinVar Annotator: match by term: KIF5A-related intractable neonatal myoclonus | ClinVar Annotator: match by term: Myoclonus, intractable, neonatal
ClinVar OMIM
PMID:18500496 PMID:18853458 PMID:21623771 PMID:22552817 PMID:22714410 PMID:24123792 PMID:24215330 PMID:24731568 PMID:25008398 PMID:25741868 PMID:26374131 PMID:26543653 PMID:27414745 PMID:27463701 PMID:28362824 PMID:28492532 PMID:28678816 More...
NCBI chr10:127,061,564...127,102,217
Ensembl chr10:127,061,565...127,099,217
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Med11
mediator complex subunit 11
ISO
ClinVar Annotator: match by term: Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities
OMIM ClinVar
PMID:36001086
NCBI chr11:70,342,744...70,344,558
Ensembl chr11:70,342,745...70,344,553
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Pomc
pro-opiomelanocortin-alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:1318289
NCBI chr12:4,004,945...4,010,643
Ensembl chr12:4,004,951...4,010,642
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Scnn1b
sodium channel, nonvoltage-gated 1 beta
ISO
ClinVar Annotator: match by term: Opsoclonus-myoclonus syndrome
ClinVar
NCBI chr 7:121,464,261...121,517,951
Ensembl chr 7:121,464,261...121,517,737
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Sdha
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
ISO
ClinVar Annotator: match by term: Opsoclonus-myoclonus syndrome
ClinVar
PMID:22955521 PMID:22974104 PMID:24781757 PMID:25720320 PMID:25741868 PMID:28492532 PMID:29177515 PMID:29978154 PMID:30854332 PMID:30877234 PMID:31589614 PMID:31981491 PMID:32581362 PMID:33854214 More...
NCBI chr13:74,470,374...74,498,359
Ensembl chr13:74,470,373...74,498,399
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mt-Tk
tRNA lysine, mitochondrial
ISO
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with myoclonus
ClinVar
PMID:10220860
NCBI chr MT:7,700...7,764
Ensembl chr MT:7,700...7,764
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Nhlrc1
NHL repeat containing 1
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...
NCBI chr13:47,166,033...47,168,326
Ensembl chr13:47,166,033...47,168,326
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2610028H24Rik
RIKEN cDNA 2610028H24 gene
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr10:76,284,883...76,297,052
Ensembl chr10:76,284,915...76,296,944
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Abcg1
ATP binding cassette subfamily G member 1
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr17:31,276,668...31,336,958
Ensembl chr17:31,276,649...31,336,962
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Adarb1
adenosine deaminase, RNA-specific, B1
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr10:77,126,561...77,254,125
Ensembl chr10:77,126,560...77,254,104
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Afg3l2
AFG3-like AAA ATPase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25401298
NCBI chr18:67,537,830...67,582,277
Ensembl chr18:67,537,834...67,582,242
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Agpat3
1-acylglycerol-3-phosphate O-acyltransferase 3
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr10:78,105,008...78,188,335
Ensembl chr10:78,105,012...78,188,323
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Aire
autoimmune regulator
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr10:77,865,856...77,879,444
Ensembl chr10:77,865,856...77,879,444
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Art3
ADP-ribosyltransferase 3
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:19847901 PMID:28492532
NCBI chr 5:92,479,659...92,562,487
Ensembl chr 5:92,479,686...92,562,487
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Atn1
atrophin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10814707
NCBI chr 6:124,719,507...124,733,450
Ensembl chr 6:124,719,507...124,733,487 Ensembl chr 6:124,719,507...124,733,487
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C2cd2
C2 calcium-dependent domain containing 2
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr16:97,656,409...97,727,248
Ensembl chr16:97,656,409...97,763,798
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Cbs
cystathionine beta-synthase
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr17:31,831,602...31,856,170
Ensembl chr17:31,827,868...31,856,212
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Ccdc158
coiled-coil domain containing 158
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:19847901 PMID:28492532
NCBI chr 5:92,756,096...92,823,327
Ensembl chr 5:92,755,813...92,823,130
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Cdkl2
cyclin dependent kinase like 2
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:19847901 PMID:28492532
NCBI chr 5:92,153,933...92,198,479
Ensembl chr 5:92,153,933...92,191,742
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Cers1
ceramide synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 8:70,768,425...70,784,238
Ensembl chr 8:70,768,425...70,784,242
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Cfap410
cilia and flagella associated protein 410
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr10:77,814,364...77,821,272
Ensembl chr10:77,814,358...77,822,739
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Chd2
chromodomain helicase DNA binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 7:73,076,400...73,191,494
Ensembl chr 7:73,076,386...73,191,578
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Cln3
CLN3 lysosomal/endosomal transmembrane protein, battenin
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...
NCBI chr 7:126,170,571...126,184,991
Ensembl chr 7:126,170,379...126,184,989
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Cln5
ceroid-lipofuscinosis, neuronal 5
ISO
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive | ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive
ClinVar
PMID:18414213 PMID:24767253 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr14:103,307,679...103,315,064
Ensembl chr14:103,307,652...103,315,064
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Cln6
ceroid-lipofuscinosis, neuronal 6
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive
CTD ClinVar
PMID:25401298 PMID:25741868
NCBI chr 9:62,746,067...62,759,288
Ensembl chr 9:62,746,067...62,759,288
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Col18a1
collagen, type XVIII, alpha 1
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr10:76,888,013...77,002,351
Ensembl chr10:76,888,012...77,002,382
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Col6a1
collagen, type VI, alpha 1
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr10:76,544,626...76,561,869
Ensembl chr10:76,544,626...76,562,002
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Col6a2
collagen, type VI, alpha 2
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr10:76,431,590...76,459,464
Ensembl chr10:76,431,596...76,459,464
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Cryaa
crystallin, alpha A
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr17:31,896,905...31,900,704
Ensembl chr17:31,896,781...31,900,707
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Cstb
cystatin B
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:9012407 PMID:9054946 PMID:9342192 PMID:9360639 PMID:9536098 PMID:15329070 PMID:15483648 PMID:16155205 PMID:17003839 PMID:17576681 PMID:17920138 PMID:18028412 PMID:18925453 PMID:20078424 PMID:21757863 PMID:22936898 PMID:23091450 PMID:23205931 PMID:25741868 PMID:26467025 PMID:26843564 PMID:28492532 PMID:29358611 PMID:29915382 PMID:31440721 PMID:32581362 PMID:35478072 PMID:37541188 PMID:38247861 More...
NCBI chr10:78,261,504...78,263,456
Ensembl chr10:78,261,503...78,263,456
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Cxcl10
C-X-C motif chemokine ligand 10
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:19847901 PMID:28492532
NCBI chr 5:92,494,497...92,496,748
Ensembl chr 5:92,494,497...92,496,748
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Cxcl11
chemokine (C-X-C motif) ligand 11
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:19847901 PMID:28492532
NCBI chr 5:92,507,403...92,511,155
Ensembl chr 5:92,507,403...92,513,344
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Cxcl9
C-X-C motif chemokine ligand 9
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:19847901 PMID:28492532
NCBI chr 5:92,469,190...92,475,938
Ensembl chr 5:92,469,206...92,475,938
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Dnajc5
DnaJ heat shock protein family (Hsp40) member C5
ISO
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: PME | ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 2:181,162,141...181,194,679
Ensembl chr 2:181,162,278...181,196,926
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Dnmt3l
DNA methyltransferase 3-like
ISO
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive
ClinVar
PMID:8596935 PMID:28492532
NCBI chr10:77,878,121...77,899,456
Ensembl chr10:77,877,781...77,899,456
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Epm2a
epilepsy, progressive myoclonic epilepsy, type 2 gene alpha
ISO
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...
RGD:9685621
NCBI chr10:11,218,435...11,335,408
Ensembl chr10:11,219,148...11,335,388
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Fam47e
family with sequence similarity 47, member E
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:19847901 PMID:28492532
NCBI chr 5:92,702,823...92,739,144
Ensembl chr 5:92,702,928...92,739,138
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Fbxl3
F-box and leucine-rich repeat protein 3
ISO
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:18414213 PMID:24767253 PMID:25741868 PMID:28492532
NCBI chr14:103,318,470...103,337,016
Ensembl chr14:103,317,675...103,337,002
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Ftcd
formiminotransferase cyclodeaminase
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr10:76,411,482...76,426,172
Ensembl chr10:76,411,482...76,426,172
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G3bp2
G3BP stress granule assembly factor 2
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:19847901 PMID:28492532
NCBI chr 5:92,200,004...92,285,584
Ensembl chr 5:92,200,005...92,231,578
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Gatd3a
glutamine amidotransferase like class 1 domain containing 3A
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr10:77,997,900...78,005,589
Ensembl chr10:77,997,900...78,005,616
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Gosr2
golgi SNAP receptor complex member 2
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...
NCBI chr11:103,567,675...103,590,139
Ensembl chr11:103,567,675...103,588,724
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Hsf2bp
heat shock transcription factor 2 binding protein
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr17:32,163,743...32,253,869
Ensembl chr17:32,163,743...32,255,323
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Icosl
icos ligand
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr10:77,904,921...77,915,359
Ensembl chr10:77,905,136...77,919,747
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Itgb2
integrin beta 2
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr10:77,366,164...77,401,542
Ensembl chr10:77,366,086...77,401,542
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Kcnc1
potassium voltage gated channel, Shaw-related subfamily, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25401298
NCBI chr 7:46,045,643...46,088,130
Ensembl chr 7:46,045,921...46,088,128
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Kctd7
potassium channel tetramerisation domain containing 7
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
NCBI chr 5:130,166,814...130,183,960
Ensembl chr 5:130,173,702...130,184,647
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Krtap10-10
keratin associated protein 10-10
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr10:77,671,781...77,673,085
Ensembl chr10:77,671,781...77,673,086
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Krtap10-22
keratin associated protein 10-22
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr10:77,606,467...77,607,159
Ensembl chr10:77,606,467...77,607,159
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Krtap10-23
keratin associated protein 10-23
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr10:77,617,567...77,618,449
Ensembl chr10:77,617,684...77,618,376
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Krtap10-33
keratin associated protein 10-33
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr10:77,525,791...77,526,644
Ensembl chr10:77,525,791...77,526,591
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Krtap10-34
keratin associated protein 10-34
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr10:77,634,221...77,635,025
Ensembl chr10:77,634,221...77,634,967
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Krtap12-1
keratin associated protein 12-1
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr10:77,556,420...77,557,090
Ensembl chr10:77,556,433...77,557,088
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Krtap12-22
keratin associated protein 12-22
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr10:77,547,280...77,547,843
Ensembl chr10:77,547,291...77,547,843
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Krtap12-23
keratin associated protein 12-23
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr10:77,542,423...77,542,820
Ensembl chr10:77,542,460...77,542,809
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Lmnb2
lamin B2
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr10:80,737,197...80,754,079
Ensembl chr10:80,737,037...80,754,079
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Lrrc3
leucine rich repeat containing 3
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr10:77,733,409...77,738,370
Ensembl chr10:77,733,409...77,738,370
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Lss
lanosterol synthase
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr10:76,367,303...76,392,973
Ensembl chr10:76,367,422...76,392,972
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Mcm3ap
minichromosome maintenance complex component 3 associated protein
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr10:76,304,736...76,351,693
Ensembl chr10:76,304,761...76,351,691
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Mfsd8
major facilitator superfamily domain containing 8
ISO
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive
ClinVar
PMID:28492532
NCBI chr 3:40,772,500...40,801,322
Ensembl chr 3:40,772,538...40,801,321
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Naaa
N-acylethanolamine acid amidase
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:19847901 PMID:28492532
NCBI chr 5:92,405,519...92,426,040
Ensembl chr 5:92,405,518...92,426,029
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Ndufv3
NADH:ubiquinone oxidoreductase core subunit V3
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr17:31,739,089...31,750,300
Ensembl chr17:31,739,089...31,750,305
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Neu1
neuraminidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25401298
NCBI chr17:35,150,229...35,156,273
Ensembl chr17:35,150,229...35,154,929
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Nhlrc1
NHL repeat containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25401298
NCBI chr13:47,166,033...47,168,326
Ensembl chr13:47,166,033...47,168,326
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Nup54
nucleoporin 54
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:19847901 PMID:28492532
NCBI chr 5:92,563,399...92,583,117
Ensembl chr 5:92,563,399...92,583,078
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Odaph
odontogenesis associated phosphoprotein
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:19847901 PMID:28492532
NCBI chr 5:92,135,332...92,143,176
Ensembl chr 5:92,135,334...92,143,179
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Optn
optineurin
ISO
protein:increased expression:neuron, nucleus
RGD
PMID:22318854
RGD:6480499
NCBI chr 2:5,023,902...5,069,210
Ensembl chr 2:5,025,453...5,068,862
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Pcbp3
poly(rC) binding protein 3
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr10:76,597,688...76,797,951
Ensembl chr10:76,597,691...76,797,721
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Pcnt
pericentrin (kendrin)
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr10:76,187,098...76,279,988
Ensembl chr10:76,187,097...76,278,620
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Pde9a
phosphodiesterase 9A
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr17:31,605,079...31,695,284
Ensembl chr17:31,605,184...31,695,284
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Pfkl
phosphofructokinase, liver, B-type
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr10:77,822,781...77,845,641
Ensembl chr10:77,822,781...77,845,917
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Pknox1
Pbx/knotted 1 homeobox
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr17:31,783,697...31,826,665
Ensembl chr17:31,783,708...31,826,667
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Pofut2
protein O-fucosyltransferase 2
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr10:77,095,056...77,105,420
Ensembl chr10:77,095,052...77,105,409
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Ppef2
protein phosphatase, EF hand calcium-binding domain 2
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:19847901 PMID:28492532
NCBI chr 5:92,374,109...92,404,759
Ensembl chr 5:92,374,538...92,404,137
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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 4:122,729,879...122,752,968
Ensembl chr 4:122,730,035...122,752,968
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Prdm15
PR domain containing 15
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr16:97,592,720...97,653,076
Ensembl chr16:97,592,667...97,653,050
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Prdm8
PR domain containing 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 5:98,315,241...98,335,313
Ensembl chr 5:98,315,057...98,336,850
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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 chr15:93,396,992...93,494,147
Ensembl chr15:93,396,995...93,493,772
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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 6:92,347,876...92,683,233
Ensembl chr 6:92,347,889...92,683,136
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Prnp
prion protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25401298
NCBI chr 2:131,751,848...131,780,356
Ensembl chr 2:131,751,848...131,780,349
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Pttg1ip
pituitary tumor-transforming 1 interacting protein
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr10:77,417,489...77,434,566
Ensembl chr10:77,417,554...77,434,566
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Pwp2
PWP2 periodic tryptophan protein homolog (yeast)
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr10:78,006,743...78,021,005
Ensembl chr10:78,006,743...78,020,983
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Ripk4
receptor-interacting serine-threonine kinase 4
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr16:97,543,133...97,564,979
Ensembl chr16:97,543,133...97,564,987
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Rrp1
ribosomal RNA processing 1
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr10:78,236,196...78,248,877
Ensembl chr10:78,236,218...78,248,877
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Rrp1b
ribosomal RNA processing 1B
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr17:32,255,087...32,281,839
Ensembl chr17:32,255,074...32,281,839
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Rsph1
radial spoke head 1 homolog (Chlamydomonas)
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr17:31,473,993...31,496,270
Ensembl chr17:31,473,993...31,496,357
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Sacs
sacsin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25401298
NCBI chr14:61,375,870...61,478,142
Ensembl chr14:61,375,906...61,478,144
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Scarb2
scavenger receptor class B, member 2
IAGP 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 chr 5:92,589,170...92,653,516
Ensembl chr 5:92,589,173...92,654,692
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Sdad1
SDA1 domain containing 1
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:19847901 PMID:28492532
NCBI chr 5:92,431,869...92,457,883
Ensembl chr 5:92,431,869...92,458,338
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Serpini1
serine (or cysteine) peptidase inhibitor, clade I, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25401298
NCBI chr 3:75,464,800...75,549,830
Ensembl chr 3:75,464,854...75,550,802
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Shroom3
shroom family member 3
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:19847901 PMID:28492532
NCBI chr 5:92,831,294...93,113,618
Ensembl chr 5:92,831,294...93,113,177
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Sik1
salt inducible kinase 1
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr17:32,063,222...32,074,808
Ensembl chr17:32,063,224...32,074,778
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Slc19a1
solute carrier family 19 (folate transporter), member 1
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr10:76,868,103...76,886,266
Ensembl chr10:76,868,075...76,896,836
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Slc37a1
solute carrier family 37 (glycerol-3-phosphate transporter), member 1
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr17:31,495,722...31,569,683
Ensembl chr17:31,505,766...31,569,713
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Slx9
SLX9 ribosome biogenesis factor
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr10:77,322,489...77,352,758
Ensembl chr10:77,322,495...77,351,619
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Spatc1l
spermatogenesis and centriole associated 1 like
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr10:76,394,180...76,406,035
Ensembl chr10:76,398,106...76,406,035
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Stbd1
starch binding domain 1
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:19847901 PMID:28492532
NCBI chr 5:92,750,910...92,754,438
Ensembl chr 5:92,750,900...92,754,438
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Sumo3
small ubiquitin-like modifier 3
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr10:77,441,931...77,454,165
Ensembl chr10:77,441,931...77,454,165
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Tbc1d24
TBC1 domain family, member 24
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25401298
NCBI chr17:24,394,405...24,424,536
Ensembl chr17:24,394,405...24,424,536
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Tff1
trefoil factor 1
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr17:31,380,369...31,384,034
Ensembl chr17:31,380,369...31,384,251
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Tff2
trefoil factor 2 (spasmolytic protein 1)
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr17:31,360,036...31,363,256
Ensembl chr17:31,360,023...31,363,256
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Tff3
trefoil factor 3, intestinal
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr17:31,344,280...31,348,585
Ensembl chr17:31,344,280...31,348,620
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Tmprss3
transmembrane protease, serine 3
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr17:31,398,237...31,419,478
Ensembl chr17:31,398,239...31,417,951
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Tpp1
tripeptidyl peptidase I
ISO
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 7:105,394,018...105,401,489
Ensembl chr 7:105,394,018...105,401,442
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Trappc10
trafficking protein particle complex 10
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr10:78,021,256...78,080,479
Ensembl chr10:78,022,559...78,080,475
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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 chr10:77,743,556...77,805,746
Ensembl chr10:77,743,556...77,806,397
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Tsc1
TSC complex subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17484760
NCBI chr 2:28,531,005...28,581,183
Ensembl chr 2:28,531,240...28,581,179
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Tspear
thrombospondin type laminin G domain and EAR repeats
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr10:77,521,942...77,722,844
Ensembl chr10:77,522,403...77,722,855
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U2af1
U2 small nuclear ribonucleoprotein auxiliary factor (U2AF) 1
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr17:31,866,055...31,878,122
Ensembl chr17:31,866,055...31,877,866
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Ubash3a
ubiquitin associated and SH3 domain containing, A
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr17:31,426,842...31,478,655
Ensembl chr17:31,426,847...31,465,866
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Ube2g2
ubiquitin-conjugating enzyme E2G 2
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr10:77,458,155...77,481,824
Ensembl chr10:77,458,109...77,481,827
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Umodl1
uromodulin-like 1
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr17:31,173,614...31,229,684
Ensembl chr17:31,173,614...31,229,684
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Uso1
USO1 vesicle docking factor
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:19847901 PMID:28492532
NCBI chr 5:92,285,770...92,350,659
Ensembl chr 5:92,285,797...92,350,657
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Wdr4
WD repeat domain 4
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr17:31,713,296...31,738,946
Ensembl chr17:31,713,296...31,738,954
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Wnt3
wingless-type MMTV integration site family, member 3
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:21549339 PMID:28492532
NCBI chr11:103,665,000...103,708,854
Ensembl chr11:103,664,976...103,708,783
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Wnt9b
wingless-type MMTV integration site family, member 9B
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:21549339 PMID:28492532
NCBI chr11:103,618,188...103,666,098
Ensembl chr11:103,618,190...103,640,647
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Ybey
ybeY metallopeptidase
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr10:76,295,401...76,304,948
Ensembl chr10:76,295,401...76,304,948
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Zbtb21
zinc finger and BTB domain containing 21
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:8596935 PMID:28492532
NCBI chr16:97,746,993...97,763,850
Ensembl chr16:97,744,557...97,763,822
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Antxr2
anthrax toxin receptor 2
ISO
ClinVar Annotator: match by term: Early-onset Lafora body disease
ClinVar
PMID:28492532
NCBI chr 5:98,032,547...98,178,876
Ensembl chr 5:98,030,642...98,178,902
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Prdm8
PR domain containing 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 chr 5:98,315,241...98,335,313
Ensembl chr 5:98,315,057...98,336,850
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Sema6b
sema domain, transmembrane domain (TM), and cytoplasmic domain, (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 chr17:56,430,085...56,447,343
Ensembl chr17:56,430,085...56,447,343
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Prmt7
protein arginine N-methyltransferase 7
ISO
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 12
ClinVar
PMID:25741868 PMID:33085104
NCBI chr 8:106,937,686...106,978,326
Ensembl chr 8:106,937,568...106,979,426
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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 chr 8:106,927,070...106,937,565
Ensembl chr 8:106,927,349...106,937,567
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Cstb
cystatin B
ISO
OMIM
NCBI chr10:78,261,504...78,263,456
Ensembl chr10:78,261,503...78,263,456
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Prickle1
prickle planar cell polarity protein 1
ISO IAGP
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 1B | ClinVar Annotator: match by term: Progressive myoclonus epilepsy with ataxia CTD Direct Evidence: marker/mechanism OMIM:612437
OMIM ClinVar CTD MouseDO
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 chr15:93,396,992...93,494,147
Ensembl chr15:93,396,995...93,493,772
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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 chr17:24,394,405...24,424,536
Ensembl chr17:24,394,405...24,424,536
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Cln3
CLN3 lysosomal/endosomal transmembrane protein, battenin
ISO
ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 14
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:126,170,571...126,184,991
Ensembl chr 7:126,170,379...126,184,989
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Kctd7
potassium channel tetramerisation domain containing 7
ISO
ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 14 | ClinVar Annotator: match by term: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 14 | ClinVar Annotator: match by term: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS | ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 3, with intracellular inclusions
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17455289 PMID:17576681 PMID:18414213 PMID:22606975 PMID:22638565 PMID:22693283 PMID:22748208 PMID:25060828 PMID:25326635 PMID:25533962 PMID:25640679 PMID:25741868 PMID:25976102 PMID:26467025 PMID:26795593 PMID:27742667 PMID:28492532 PMID:29056246 PMID:29302074 PMID:29619247 PMID:29655203 PMID:30295347 PMID:30500434 PMID:30776697 PMID:30825425 PMID:30919572 PMID:31130284 PMID:31216804 PMID:31965297 PMID:32412666 PMID:32581362 PMID:34469883 PMID:34866617 PMID:35921411 PMID:36034301 PMID:37541188 PMID:38231304 More...
NCBI chr 5:130,166,814...130,183,960
Ensembl chr 5:130,173,702...130,184,647
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Kcnh8
potassium voltage-gated channel, subfamily H (eag-related), member 8
ISO
ClinVar Annotator: match by term: Action myoclonus-renal failure syndrome
ClinVar
PMID:25741868
NCBI chr17:52,909,535...53,286,892
Ensembl chr17:52,909,737...53,286,222
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Rtel1
regulator of telomere elongation helicase 1
ISO
ClinVar Annotator: match by term: Action myoclonus-renal failure syndrome
ClinVar
PMID:25741868
NCBI chr 2:180,961,504...180,998,409
Ensembl chr 2:180,961,532...180,998,409
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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 chr 5:92,589,170...92,653,516
Ensembl chr 5:92,589,173...92,654,692
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Fanci
Fanconi anemia, complementation group I
ISO
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5
ClinVar
PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:22237560 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25488682 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28130605 PMID:28492532 PMID:30451971 More...
NCBI chr 7:79,042,056...79,100,013
Ensembl chr 7:79,041,677...79,100,012
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Msh6
mutS homolog 6
ISO
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5
ClinVar
PMID:23621914 PMID:24033266 PMID:25142776 PMID:25326637 PMID:25741868 PMID:25980754 PMID:26689913 PMID:28492532 PMID:29684080 PMID:29945567 PMID:30267214 PMID:31159747 PMID:31332305 PMID:31391288 PMID:31422574 PMID:31921681 PMID:33471991 PMID:34445333 PMID:35980532 More...
NCBI chr17:88,282,478...88,298,320
Ensembl chr17:88,282,490...88,298,320
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Polg
polymerase (DNA directed), gamma
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...
NCBI chr 7:79,095,979...79,117,659
Ensembl chr 7:79,095,979...79,116,110
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Prickle2
prickle planar cell polarity protein 2
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 5
ClinVar
PMID:9536098 PMID:17576681 PMID:21276947 PMID:23711981 PMID:24088041 PMID:25326635 PMID:25741868 PMID:26467025 PMID:26633545 PMID:26942291 PMID:26942292 PMID:28492532 PMID:29358611 More...
NCBI chr 6:92,347,876...92,683,233
Ensembl chr 6:92,347,889...92,683,136
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Twnk
twinkle mtDNA helicase
ISO
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5
ClinVar
PMID:21689831 PMID:25741868 PMID:28492532
NCBI chr19:44,994,102...45,001,203
Ensembl chr19:44,994,102...45,001,201
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Gosr2
golgi SNAP receptor complex member 2
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...
NCBI chr11:103,567,675...103,590,139
Ensembl chr11:103,567,675...103,588,724
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Ndufs2
NADH:ubiquinone oxidoreductase core subunit S2
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 6
ClinVar
PMID:22200994 PMID:25326637 PMID:25741868 PMID:28492532
NCBI chr 1:171,062,426...171,078,956
Ensembl chr 1:171,062,422...171,078,957
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Csrp3
cysteine and glycine-rich protein 3
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7
ClinVar
PMID:28492532
NCBI chr 7:48,480,146...48,497,799
Ensembl chr 7:48,480,146...48,497,781
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Gtf2h1
general transcription factor II H, polypeptide 1
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7
ClinVar
PMID:28492532
NCBI chr 7:46,445,518...46,473,224
Ensembl chr 7:46,445,527...46,473,224
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Hps5
HPS5, biogenesis of lysosomal organelles complex 2 subunit 2
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7
ClinVar
PMID:28492532
NCBI chr 7:46,409,890...46,445,501
Ensembl chr 7:46,409,890...46,445,488
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Kcnc1
potassium voltage gated channel, Shaw-related subfamily, member 1
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...
NCBI chr 7:46,045,643...46,088,130
Ensembl chr 7:46,045,921...46,088,128
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Ldha
lactate dehydrogenase A
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7
ClinVar
PMID:28492532
NCBI chr 7:46,491,698...46,505,051
Ensembl chr 7:46,490,899...46,505,051
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Ldhc
lactate dehydrogenase C
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7
ClinVar
PMID:28492532
NCBI chr 7:46,510,687...46,527,571
Ensembl chr 7:46,510,627...46,527,566
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LOC102637012
immunoglobulin superfamily member 22-like
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7
ClinVar
PMID:28492532
NCBI chr 7:46,709,799...46,724,467
Ensembl chr 7:46,707,101...46,724,435
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Mrgpra1
MAS-related GPR, member A1
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7
ClinVar
PMID:28492532
NCBI chr 7:46,984,623...47,003,988
Ensembl chr 7:46,984,623...47,003,988
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Mrgprx1
MAS-related GPR, member X1
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7
ClinVar
PMID:28492532
NCBI chr 7:47,670,719...47,677,345
Ensembl chr 7:47,670,719...47,677,345
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Mrgprx2
MAS-related GPR, member X2
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7
ClinVar
PMID:28492532
NCBI chr 7:48,128,367...48,149,018
Ensembl chr 7:48,128,367...48,149,069
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Myod1
myogenic differentiation 1
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7
ClinVar
PMID:28492532
NCBI chr 7:46,025,898...46,028,516
Ensembl chr 7:46,025,898...46,028,523
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Otog
otogelin
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7
ClinVar
PMID:28492532
NCBI chr 7:45,890,411...45,960,858
Ensembl chr 7:45,890,411...45,960,858
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Ptpn5
protein tyrosine phosphatase, non-receptor type 5
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7
ClinVar
PMID:28492532
NCBI chr 7:46,727,543...46,783,774
Ensembl chr 7:46,727,543...46,783,432
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Saa1
serum amyloid A 1
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7
ClinVar
PMID:28492532
NCBI chr 7:46,389,921...46,392,404
Ensembl chr 7:46,389,921...46,392,404
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Saa2
serum amyloid A 2
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7
ClinVar
PMID:28492532
NCBI chr 7:46,401,257...46,403,737
Ensembl chr 7:46,401,214...46,403,737
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Saa4
serum amyloid A 4
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7
ClinVar
PMID:28492532
NCBI chr 7:46,377,416...46,382,027
Ensembl chr 7:46,377,422...46,382,027
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Saal1
serum amyloid A-like 1
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7
ClinVar
PMID:28492532
NCBI chr 7:46,336,581...46,360,085
Ensembl chr 7:46,335,532...46,360,104
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Sergef
secretion regulating guanine nucleotide exchange factor
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7
ClinVar
PMID:28492532
NCBI chr 7:46,092,583...46,289,254
Ensembl chr 7:46,092,578...46,289,231
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Spty2d1
SPT2 chromatin protein domain containing 1
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7
ClinVar
PMID:28492532
NCBI chr 7:46,640,144...46,658,162
Ensembl chr 7:46,640,144...46,658,159
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Tmem86a
transmembrane protein 86A
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7
ClinVar
PMID:28492532
NCBI chr 7:46,700,388...46,704,524
Ensembl chr 7:46,700,349...46,704,525
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Tph1
tryptophan hydroxylase 1
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7
ClinVar
PMID:28492532
NCBI chr 7:46,294,065...46,321,961
Ensembl chr 7:46,294,065...46,321,961
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Tsg101
tumor susceptibility gene 101
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7
ClinVar
PMID:28492532
NCBI chr 7:46,538,693...46,569,716
Ensembl chr 7:46,538,697...46,569,717
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Uevld
UEV and lactate/malate dehyrogenase domains
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7
ClinVar
PMID:28492532
NCBI chr 7:46,572,964...46,608,275
Ensembl chr 7:46,572,964...46,608,275
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Ush1c
USH1 protein network component harmonin
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7
ClinVar
PMID:28492532
NCBI chr 7:45,844,774...45,887,984
Ensembl chr 7:45,844,774...45,887,927
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Zdhhc13
zinc finger, DHHC domain containing 13
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7
ClinVar
PMID:28492532
NCBI chr 7:48,438,751...48,477,188
Ensembl chr 7:48,438,751...48,477,188
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Armc6
armadillo repeat containing 6
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8
ClinVar
PMID:28492532
NCBI chr 8:70,672,822...70,687,099
Ensembl chr 8:70,672,822...70,687,116
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Borcs8
BLOC-1 related complex subunit 8
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8
ClinVar
PMID:28492532
NCBI chr 8:70,592,149...70,601,285
Ensembl chr 8:70,592,149...70,599,969
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Cers1
ceramide synthase 1
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...
NCBI chr 8:70,768,425...70,784,238
Ensembl chr 8:70,768,425...70,784,242
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Comp
cartilage oligomeric matrix protein
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8
ClinVar
PMID:28492532
NCBI chr 8:70,826,186...70,834,721
Ensembl chr 8:70,826,208...70,834,716
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Cope
coatomer protein complex, subunit epsilon
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8
ClinVar
PMID:28492532
NCBI chr 8:70,755,417...70,765,652
Ensembl chr 8:70,755,168...70,765,643
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Ddx49
DEAD box helicase 49
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8
ClinVar
PMID:28492532
NCBI chr 8:70,745,516...70,755,121
Ensembl chr 8:70,745,516...70,755,139
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Gdf1
growth differentiation factor 1
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...
NCBI chr 8:70,768,425...70,784,242
Ensembl chr 8:70,768,425...70,784,242 Ensembl chr 8:70,768,425...70,784,242
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Homer3
homer scaffolding protein 3
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8
ClinVar
PMID:28492532
NCBI chr 8:70,735,529...70,747,011
Ensembl chr 8:70,735,477...70,747,011
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Mef2b
myocyte enhancer factor 2B
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8
ClinVar
PMID:28492532
NCBI chr 8:70,605,411...70,620,138
Ensembl chr 8:70,592,361...70,620,138
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Nr2c2ap
nuclear receptor 2C2-associated protein
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8
ClinVar
PMID:28492532
NCBI chr 8:70,583,977...70,586,402
Ensembl chr 8:70,583,983...70,586,399
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Rfxank
regulatory factor X-associated ankyrin-containing protein
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8
ClinVar
PMID:28492532
NCBI chr 8:70,583,456...70,591,847
Ensembl chr 8:70,583,444...70,591,804
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Slc25a42
solute carrier family 25, member 42
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8
ClinVar
PMID:28492532
NCBI chr 8:70,636,990...70,664,931
Ensembl chr 8:70,636,990...70,664,955
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Sugp2
SURP and G patch domain containing 2
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8
ClinVar
PMID:28492532
NCBI chr 8:70,686,838...70,715,755
Ensembl chr 8:70,686,876...70,732,565
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Tmem161a
transmembrane protein 161A
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8
ClinVar
PMID:28492532
NCBI chr 8:70,624,979...70,636,331
Ensembl chr 8:70,625,006...70,636,331
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Upf1
UPF1 RNA helicase and ATPase
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8
ClinVar
PMID:28492532
NCBI chr 8:70,784,143...70,806,418
Ensembl chr 8:70,784,175...70,805,928
G
2010315B03Rik
RIKEN cDNA 2010315B03 gene
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9
ClinVar
PMID:28492532
NCBI chr 9:124,054,432...124,075,349
Ensembl chr 9:124,054,434...124,075,326
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2310011J03Rik
RIKEN cDNA 2310011J03 gene
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9
ClinVar
PMID:28492532
NCBI chr10:80,154,089...80,156,382
Ensembl chr10:80,154,088...80,156,371
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Abhd17a
abhydrolase domain containing 17A
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9
ClinVar
PMID:28492532
NCBI chr10:80,419,483...80,426,199
Ensembl chr10:80,419,488...80,426,175
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Adamtsl5
ADAMTS-like 5
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9
ClinVar
PMID:28492532
NCBI chr10:80,175,655...80,184,246
Ensembl chr10:80,174,944...80,184,246
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Adat3
adenosine deaminase, tRNA-specific 3
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9
ClinVar
PMID:28492532
NCBI chr10:80,438,714...80,443,488
Ensembl chr10:80,441,855...80,451,618 Ensembl chr10:80,441,855...80,451,618
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Amh
anti-Mullerian hormone
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9
ClinVar
PMID:28492532
NCBI chr10:80,641,074...80,643,513
Ensembl chr10:80,641,077...80,643,482
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Ap3d1
adaptor-related protein complex 3, delta 1 subunit
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9
ClinVar
PMID:28492532
NCBI chr10:80,542,790...80,578,137
Ensembl chr10:80,542,790...80,578,098
G
Apc2
APC regulator of WNT signaling pathway 2
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9
ClinVar
PMID:28492532
NCBI chr10:80,131,790...80,154,091
Ensembl chr10:80,131,811...80,154,097
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Atp8b3
ATPase, class I, type 8B, member 3
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9
ClinVar
PMID:28492532
NCBI chr10:80,355,418...80,374,987
Ensembl chr10:80,355,418...80,374,958
G
Btbd2
BTB domain containing 2
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9
ClinVar
PMID:28492532
NCBI chr10:80,478,457...80,492,328
Ensembl chr10:80,478,451...80,492,328
G
Csnk1g2
casein kinase 1, gamma 2
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9
ClinVar
PMID:28492532
NCBI chr10:80,458,465...80,476,605
Ensembl chr10:80,458,672...80,476,583
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Diras1
DIRAS family, GTP-binding RAS-like 1
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9
ClinVar
PMID:28492532
NCBI chr10:80,855,423...80,862,038
Ensembl chr10:80,855,423...80,861,496
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Dot1l
DOT1 like histone lysine methyltransferase
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9
ClinVar
PMID:28492532
NCBI chr10:80,590,935...80,631,295
Ensembl chr10:80,591,040...80,631,295
G
Gadd45b
growth arrest and DNA-damage-inducible 45 beta
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9
ClinVar
PMID:28492532
NCBI chr10:80,765,925...80,768,038
Ensembl chr10:80,765,907...80,768,038
G
Gna11
guanine nucleotide binding protein, alpha 11
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9
ClinVar
PMID:28492532
NCBI chr10:81,364,558...81,380,996
Ensembl chr10:81,364,558...81,381,024
G
Gng7
guanine nucleotide binding protein (G protein), gamma 7
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9
ClinVar
PMID:28492532
NCBI chr10:80,784,463...80,850,742
Ensembl chr10:80,784,458...80,850,779
G
Izumo4
IZUMO family member 4
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9
ClinVar
PMID:28492532
NCBI chr10:80,537,858...80,541,216
Ensembl chr10:80,538,018...80,541,207
G
Klf16
Kruppel-like transcription factor 16
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9
ClinVar
PMID:28492532
NCBI chr10:80,402,955...80,413,130
Ensembl chr10:80,402,958...80,413,155
G
Lingo3
leucine rich repeat and Ig domain containing 3
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9
ClinVar
PMID:28492532
NCBI chr10:80,668,635...80,679,873
Ensembl chr10:80,668,635...80,679,873
G
Lmnb2
lamin B2
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...
NCBI chr10:80,737,197...80,754,079
Ensembl chr10:80,737,037...80,754,079
G
Lsm7
LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9
ClinVar
PMID:28492532
NCBI chr10:80,688,659...80,691,043
Ensembl chr10:80,688,655...80,691,043
G
Mbd3
methyl-CpG binding domain protein 3
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9
ClinVar
PMID:28492532
NCBI chr10:80,228,373...80,235,365
Ensembl chr10:80,228,373...80,235,384
G
Mex3d
mex3 RNA binding family member D
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9
ClinVar
PMID:28492532
NCBI chr10:80,216,189...80,223,485
Ensembl chr10:80,216,189...80,223,493
G
Mknk2
MAP kinase-interacting serine/threonine kinase 2
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9
ClinVar
PMID:28492532
NCBI chr10:80,501,152...80,512,264
Ensembl chr10:80,501,161...80,513,946
G
Mob3a
MOB kinase activator 3A
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9
ClinVar
PMID:28492532
NCBI chr10:80,521,087...80,537,845
Ensembl chr10:80,521,087...80,537,811
G
Oaz1
ornithine decarboxylase antizyme 1
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9
ClinVar
PMID:28492532
NCBI chr10:80,662,490...80,665,124
Ensembl chr10:80,662,516...80,665,124
G
Onecut3
one cut domain, family member 3
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9
ClinVar
PMID:28492532
NCBI chr10:80,330,740...80,353,100
Ensembl chr10:80,330,669...80,353,110
G
Pcsk4
proprotein convertase subtilisin/kexin type 4
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9
ClinVar
PMID:28492532
NCBI chr10:80,157,117...80,165,583
Ensembl chr10:80,157,117...80,165,332
G
Plekhj1
pleckstrin homology domain containing, family J member 1
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9
ClinVar
PMID:28492532
NCBI chr10:80,631,933...80,634,404
Ensembl chr10:80,631,933...80,634,460
G
Plk5
polo like kinase 5
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9
ClinVar
PMID:28492532
NCBI chr10:80,192,293...80,201,323
Ensembl chr10:80,192,293...80,201,323
G
Reep6
receptor accessory protein 6
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9
ClinVar
PMID:28492532
NCBI chr10:80,165,831...80,172,275
Ensembl chr10:80,165,787...80,172,275
G
Rexo1
REX1, RNA exonuclease 1
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9
ClinVar
PMID:28492532
NCBI chr10:80,376,759...80,400,624
Ensembl chr10:80,376,756...80,397,394
G
Scamp4
secretory carrier membrane protein 4
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9
ClinVar
PMID:28492532
NCBI chr10:80,438,716...80,451,617
Ensembl chr10:80,438,706...80,451,617
G
Sf3a2
splicing factor 3a, subunit 2
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9
ClinVar
PMID:28492532
NCBI chr10:80,634,569...80,640,756
Ensembl chr10:80,634,032...80,640,758
G
Sgta
small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9
ClinVar
PMID:28492532
NCBI chr10:80,879,905...80,896,105
Ensembl chr10:80,879,909...80,896,015
G
Slc39a3
solute carrier family 39 (zinc transporter), member 3
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9
ClinVar
PMID:28492532
NCBI chr10:80,864,374...80,873,169
Ensembl chr10:80,864,372...80,873,260
G
Sppl2b
signal peptide peptidase like 2B
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9
ClinVar
PMID:28492532
NCBI chr10:80,691,067...80,704,542
Ensembl chr10:80,691,109...80,704,542
G
Tcf3
transcription factor 3
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9
ClinVar
PMID:28492532
NCBI chr10:80,245,375...80,269,814
Ensembl chr10:80,245,348...80,269,481
G
Thop1
thimet oligopeptidase 1
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9
ClinVar
PMID:28492532
NCBI chr10:80,905,917...80,918,194
Ensembl chr10:80,905,869...80,918,393
G
Timm13
translocase of inner mitochondrial membrane 13
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9
ClinVar
PMID:28492532
NCBI chr10:80,735,284...80,736,803
Ensembl chr10:80,735,284...80,736,803
G
Tle2
transducin-like enhancer of split 2
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9
ClinVar
PMID:28492532
NCBI chr10:81,410,573...81,435,018
Ensembl chr10:81,410,395...81,426,679
G
Tle5
TLE family member 5, transcriptional modulator
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9
ClinVar
PMID:28492532
NCBI chr10:81,395,278...81,402,205
Ensembl chr10:81,395,322...81,402,196
G
Tle6
transducin-like enhancer of split 6
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9
ClinVar
PMID:28492532
NCBI chr10:81,426,738...81,437,021
Ensembl chr10:81,426,738...81,436,907
G
Tmprss9
transmembrane protease, serine 9
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9
ClinVar
PMID:28492532
NCBI chr10:80,706,951...80,735,329
Ensembl chr10:80,707,682...80,735,326
G
Uqcr11
ubiquinol-cytochrome c reductase, complex III subunit XI
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9
ClinVar
PMID:28492532
NCBI chr10:80,238,831...80,242,655
Ensembl chr10:80,238,831...80,242,664
G
Zfp747l1
zinc finger protein 747 like 1
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9
ClinVar
PMID:28492532
NCBI chr 7:126,981,432...126,986,338
Ensembl chr 7:126,981,432...126,986,338
G
Asah1
N-acylsphingosine amidohydrolase 1
ISO
ClinVar Annotator: match by term: Hereditary myoclonus and progressive distal muscular atrophy | ClinVar Annotator: match by term: MYOCLONUS, HEREDITARY, WITH PROGRESSIVE DISTAL MUSCULAR ATROPHY | ClinVar Annotator: match by term: Spinal muscular atrophy with progressive myoclonic epilepsy
OMIM ClinVar
PMID:16199547 PMID:22703880 PMID:24033266 PMID:24164096 PMID:24355074 PMID:25326635 PMID:25578555 PMID:25741868 PMID:25847462 PMID:26467025 PMID:26526000 PMID:27026573 PMID:27411168 PMID:27723502 PMID:28251733 PMID:28492532 PMID:28733637 PMID:29169047 PMID:29358611 PMID:30291339 PMID:32449975 PMID:34240417 More...
NCBI chr 8:41,793,683...41,850,681
Ensembl chr 8:41,793,234...41,827,810
G
Cstb
cystatin B
ISO IAGP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Unverricht-Lundborg syndrome OMIM:254800
CTD ClinVar OMIM MouseDO
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...
NCBI chr10:78,261,504...78,263,456
Ensembl chr10:78,261,503...78,263,456
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