|
G |
Mecp2 |
methyl-CpG binding protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19559301 |
|
NCBI chrNW_004624946:620,581...685,339
Ensembl chrNW_004624946:628,284...685,246
|
|
G |
Scn8a |
sodium voltage-gated channel alpha subunit 8 |
|
ISO |
ClinVar Annotator: match by term: Myoclonus |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004624816:498,737...631,850
Ensembl chrNW_004624816:499,179...631,936
|
|
G |
Tbc1d24 |
TBC1 domain family member 24 |
|
ISO |
ClinVar Annotator: match by term: Myoclonus |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004624824:245,717...251,603
Ensembl chrNW_004624824:243,939...254,249
|
|
G |
Tnxb |
tenascin XB |
|
ISO |
ClinVar Annotator: match by term: Myoclonus |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624754:24,198,979...24,253,185
|
|
|
G |
Atn1 |
atrophin 1 |
|
ISO |
ClinVar Annotator: match by term: Dentatorubral-pallidoluysian atrophy |
OMIM ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624860:3,564,741...3,577,889
Ensembl chrNW_004624860:3,571,254...3,577,400
|
|
|
G |
Pidd1 |
p53-induced death domain protein 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 3 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624766:21,704,836...21,710,286
Ensembl chrNW_004624766:21,704,798...21,710,633
|
|
G |
Slc25a22 |
solute carrier family 25 member 22 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 3 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 3 |
OMIM ClinVar |
PMID:15592994 PMID:18414213 PMID:19780765 PMID:24596948 PMID:25033742 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31589614 More...
|
|
NCBI chrNW_004624766:21,710,867...21,717,724
Ensembl chrNW_004624766:21,712,907...21,717,724
|
|
|
G |
Brat1 |
BRCA1 associated ATM activator 1 |
|
ISO |
ClinVar Annotator: match by term: Dravet syndrome |
ClinVar |
PMID:22279524 PMID:25500575 PMID:25741868 PMID:28492532 PMID:29390993 |
|
NCBI chrNW_004624740:30,282,829...30,296,748
Ensembl chrNW_004624740:30,284,652...30,296,771
|
|
G |
Cgn |
cingulin |
|
ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:25894286 PMID:28492532 |
|
NCBI chrNW_004624772:19,222,475...19,249,418
|
|
G |
Gabrg2 |
gamma-aminobutyric acid type A receptor subunit gamma2 |
|
ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
|
|
NCBI chrNW_004624733:27,506,827...27,593,750
Ensembl chrNW_004624733:27,504,660...27,594,039
|
|
G |
Lysmd1 |
LysM domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624772:18,684,380...18,714,120
Ensembl chrNW_004624772:18,684,359...18,695,035
|
|
G |
Pi4kb |
phosphatidylinositol 4-kinase beta |
|
ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624772:18,533,603...18,564,160
Ensembl chrNW_004624772:18,532,986...18,564,492
|
|
G |
Pip5k1a |
phosphatidylinositol-4-phosphate 5-kinase type 1 alpha |
|
ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624772:18,616,095...18,658,016
Ensembl chrNW_004624772:18,616,121...18,658,286
|
|
G |
Pogz |
pogo transposable element derived with ZNF domain |
|
ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:25894286 PMID:28492532 |
|
NCBI chrNW_004624772:19,127,702...19,184,151
Ensembl chrNW_004624772:19,127,702...19,184,048
|
|
G |
Psmb4 |
proteasome 20S subunit beta 4 |
|
ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:25894286 PMID:28492532 |
|
NCBI chrNW_004624772:19,124,327...19,126,731
Ensembl chrNW_004624772:19,124,386...19,126,627
|
|
G |
Psmd4 |
proteasome 26S subunit ubiquitin receptor, non-ATPase 4 |
|
ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624772:18,600,021...18,609,887
Ensembl chrNW_004624772:18,600,021...18,610,014
|
|
G |
Rfx5 |
regulatory factor X5 |
|
ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:25894286 PMID:28492532 |
|
NCBI chrNW_004624772:18,517,829...18,523,220
Ensembl chrNW_004624772:18,517,305...18,523,220
|
|
G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6A | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 6 | ClinVar Annotator: match by term: Dravet syndrome | ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy 6 | ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
OMIM ClinVar |
PMID:1893009 PMID:1893099 PMID:9536098 PMID:9573403 PMID:10486327 PMID:10521305 PMID:10742094 PMID:11118488 PMID:11254444 PMID:11254445 PMID:11359211 PMID:11524484 PMID:11567038 PMID:11823106 PMID:11940708 PMID:12083760 PMID:12086636 PMID:12566275 PMID:12610651 PMID:12754708 PMID:12821740 PMID:12919402 PMID:14504318 PMID:14672992 PMID:14702334 PMID:14738421 PMID:15087100 PMID:15263074 PMID:15277629 PMID:15508916 PMID:16054936 PMID:16199547 PMID:16210358 PMID:16326807 PMID:16359470 PMID:16380441 PMID:16458823 PMID:16525050 PMID:16541393 PMID:16713913 PMID:16713920 PMID:17000989 PMID:17054684 PMID:17054685 PMID:17166794 PMID:17347258 PMID:17507202 PMID:17537961 PMID:17561957 PMID:17576681 PMID:17903680 PMID:17928445 PMID:18021921 PMID:18031552 PMID:18056581 PMID:18076640 PMID:18413471 PMID:18414213 PMID:18554359 PMID:18566737 PMID:18621678 PMID:18632931 PMID:18680191 PMID:18755274 PMID:18804930 PMID:18930999 PMID:19200853 PMID:19220312 PMID:19236456 PMID:19332696 PMID:19350499 PMID:19359143 PMID:19522081 PMID:19563349 PMID:19563458 PMID:19585586 PMID:19586930 PMID:19589774 PMID:19673951 PMID:19782004 PMID:19809937 PMID:20100831 PMID:20110217 PMID:20117752 PMID:20301494 PMID:20301562 PMID:20431604 PMID:20452746 PMID:20491869 PMID:20522430 PMID:20550552 PMID:20562086 PMID:20600615 PMID:20729507 PMID:20831750 PMID:20879882 PMID:21248271 PMID:21371021 PMID:21396429 PMID:21425109 PMID:21555645 PMID:21703448 PMID:21713554 PMID:21719429 PMID:21753172 PMID:21864321 PMID:21868258 PMID:21906962 PMID:22050978 PMID:22071555 PMID:22092154 PMID:22140375 PMID:22147323 PMID:22150645 PMID:22151702 PMID:22156295 PMID:22409937 PMID:22525008 PMID:22550089 PMID:22612257 PMID:22780858 PMID:22848613 PMID:22944210 PMID:23086956 PMID:23195492 PMID:23398611 PMID:23527921 PMID:23662938 PMID:23708187 PMID:23762420 PMID:23773995 PMID:23808377 PMID:23821540 PMID:23884151 PMID:23895530 PMID:23917401 PMID:23934111 PMID:23945787 PMID:24066114 PMID:24136861 PMID:24155976 PMID:24168886 PMID:24277604 PMID:24328833 PMID:24412860 PMID:24502503 PMID:24656210 PMID:24679980 PMID:24776920 PMID:25206388 PMID:25243660 PMID:25326635 PMID:25348405 PMID:25378155 PMID:25401298 PMID:25459968 PMID:25459969 PMID:25525159 PMID:25576396 PMID:25590135 PMID:25669891 PMID:25741868 PMID:25741869 PMID:25754450 PMID:25818041 PMID:25885068 PMID:25986186 PMID:26096185 PMID:26169758 PMID:26188943 PMID:26232052 PMID:26236192 PMID:26394714 PMID:26467025 PMID:26544041 PMID:26633542 PMID:26699486 PMID:26763045 PMID:26845707 PMID:26990884 PMID:26993267 PMID:27066544 PMID:27113213 PMID:27197941 PMID:27231140 PMID:27236449 PMID:27267376 PMID:27457812 PMID:27465585 PMID:27582020 PMID:27652284 PMID:27781031 PMID:27864847 PMID:27919014 PMID:27959697 PMID:28012175 PMID:28074849 PMID:28079314 PMID:28084635 PMID:28102150 PMID:28148630 PMID:28150151 PMID:28186331 PMID:28192756 PMID:28202706 PMID:28387369 PMID:28488083 PMID:28492532 PMID:28518168 PMID:28544625 PMID:28554332 PMID:28664031 PMID:28708303 PMID:28794249 PMID:28837158 PMID:28864458 PMID:29056246 PMID:29100083 PMID:29141279 PMID:29141311 PMID:29142202 PMID:29145747 PMID:29186148 PMID:29190809 PMID:29314583 PMID:29358611 PMID:29408779 PMID:29460957 PMID:29655203 PMID:29745119 PMID:29760947 PMID:29852413 PMID:29930392 PMID:29933521 PMID:29948376 PMID:29981888 PMID:30034362 PMID:30142967 PMID:30146492 PMID:30182498 PMID:30185235 PMID:30258939 PMID:30311386 PMID:30321769 PMID:30368457 PMID:30498473 PMID:30525188 PMID:30526861 PMID:30577886 PMID:30619928 PMID:30659983 PMID:30735520 PMID:30779207 PMID:30805006 PMID:30868114 PMID:30921204 PMID:30945278 PMID:31001185 PMID:31009440 PMID:31019026 PMID:31031587 PMID:31054490 PMID:31069529 PMID:31102827 PMID:31139143 PMID:31164858 PMID:31439038 PMID:31440721 PMID:31487502 PMID:31618474 PMID:31730442 PMID:31755124 PMID:31765958 PMID:31780880 PMID:31782251 PMID:31791873 PMID:31864146 PMID:31875159 PMID:31880072 PMID:32056211 PMID:32090326 PMID:32238909 PMID:32461654 PMID:32488064 PMID:32538476 PMID:32573669 PMID:32581296 PMID:32581362 PMID:32593896 PMID:32613771 PMID:32702657 PMID:32845893 PMID:33067208 PMID:33084218 PMID:33278787 PMID:33391346 PMID:33411788 PMID:33674996 PMID:34015165 PMID:34107977 PMID:34163418 PMID:34174751 PMID:34268891 PMID:34338318 PMID:34379890 PMID:34489640 PMID:34539730 PMID:34917021 PMID:35072530 PMID:35074891 PMID:35087721 PMID:35571373 PMID:35627257 PMID:35663268 PMID:35696452 PMID:35886038 PMID:36158059 PMID:36229510 PMID:36287100 PMID:36684540 PMID:36820031 PMID:37524782 PMID:39033378 More...
|
|
NCBI chrNW_004624787:3,767,405...3,939,065
Ensembl chrNW_004624787:3,768,120...3,908,889
|
|
G |
Scn1b |
sodium voltage-gated channel beta subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624794:8,439,609...8,449,731
Ensembl chrNW_004624794:8,439,600...8,450,179
|
|
G |
Scn9a |
sodium voltage-gated channel alpha subunit 9 |
|
ISO |
ClinVar Annotator: match by term: Dravet syndrome | ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:19763161 PMID:21698661 PMID:22136189 PMID:23280954 PMID:23895530 PMID:25250524 PMID:25741868 PMID:25993546 PMID:26264438 PMID:26467025 PMID:26675522 PMID:26920677 PMID:28235406 PMID:28440294 PMID:28492532 PMID:29264398 PMID:29911575 PMID:30316835 PMID:30672368 PMID:37003485 More...
|
|
NCBI chrNW_004624787:3,995,319...4,148,230
Ensembl chrNW_004624787:3,997,887...4,085,449
|
|
G |
Selenbp1 |
selenium binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:25894286 PMID:28492532 |
|
NCBI chrNW_004624772:18,496,479...18,505,706
Ensembl chrNW_004624772:18,496,495...18,505,706
|
|
G |
Snx27 |
sorting nexin 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 chrNW_004624772:19,305,355...19,385,298
Ensembl chrNW_004624772:19,305,359...19,385,292
|
|
G |
Tmod4 |
tropomodulin 4 |
|
ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624772:18,674,638...18,680,319
Ensembl chrNW_004624772:18,674,861...18,680,317
|
|
G |
Tnfaip8l2 |
TNF alpha induced protein 8 like 2 |
|
ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624772:18,695,670...18,698,304
Ensembl chrNW_004624772:18,695,083...18,697,688
|
|
G |
Tuft1 |
tuftelin 1 |
|
ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:25894286 PMID:28492532 |
|
NCBI chrNW_004624772:19,250,576...19,287,540
Ensembl chrNW_004624772:19,250,491...19,287,145
|
|
G |
Vps72 |
vacuolar protein sorting 72 homolog |
|
ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624772:18,662,515...18,674,214
Ensembl chrNW_004624772:18,662,110...18,674,193
|
|
G |
Znf687 |
zinc finger protein 687 |
|
ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624772:18,564,311...18,589,584
Ensembl chrNW_004624772:18,564,311...18,572,479
|
|
|
G |
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 chrNW_004624824:181,696...204,045
Ensembl chrNW_004624824:181,735...204,029
|
|
G |
Diras1 |
DIRAS family GTPase 1 |
|
ISO |
Epilepsy, generalized myoclonic, with photosensitivity |
OMIA |
PMID:28223533 PMID:29194766 PMID:38003185 |
|
NCBI chrNW_004624828:5,808,355...5,816,865
Ensembl chrNW_004624828:5,809,660...5,816,819
|
|
G |
Egr2 |
early growth response 2 |
|
ISO |
ClinVar Annotator: match by term: Early myoclonic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624791:953,009...959,656
Ensembl chrNW_004624791:955,161...959,791
|
|
G |
Jmjd1c |
jumonji domain containing 1C |
|
ISO |
ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22495311 PMID:25741868 PMID:26181491 PMID:28166811 PMID:28492532 PMID:31785789 PMID:31954878 More...
|
|
NCBI chrNW_004624791:306,827...589,134
Ensembl chrNW_004624791:365,726...588,870
|
|
G |
Kcnd2 |
potassium voltage-gated channel subfamily D member 2 |
|
ISO |
ClinVar Annotator: match by term: Early myoclonic encephalopathy ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19171772 PMID:24501278 PMID:25214526 PMID:25640679 PMID:25741868 PMID:28166811 PMID:28492532 PMID:29581270 PMID:30571183 PMID:31130284 PMID:34245260 PMID:35510384 PMID:35897654 More...
|
|
NCBI chrNW_004624783:15,349,416...15,892,011
Ensembl chrNW_004624783:15,351,870...15,891,057
|
|
G |
Kit |
KIT proto-oncogene, receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004624761:14,733,912...14,831,428
|
|
G |
LOC101715424 |
tubulin alpha-1B chain-like |
|
ISO |
ClinVar Annotator: match by term: Early myoclonic encephalopathy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30744660 PMID:31833200 |
|
NCBI chrNW_004624816:3,001,252...3,006,166
|
|
G |
Nrbf2 |
nuclear receptor binding factor 2 |
|
ISO |
ClinVar Annotator: match by term: Early myoclonic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624791:602,774...620,186
Ensembl chrNW_004624791:602,274...620,327
|
|
G |
Opa1 |
OPA1 mitochondrial dynamin like GTPase |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile |
ClinVar |
PMID:25326637 PMID:28492532 |
|
NCBI chrNW_004624730:63,911,066...63,994,886
Ensembl chrNW_004624730:63,911,066...63,995,596
|
|
G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe |
ClinVar |
PMID:1893099 PMID:9536098 PMID:9573403 PMID:10486327 PMID:10521305 PMID:10742094 PMID:11118488 PMID:11254444 PMID:11254445 PMID:11359211 PMID:11524484 PMID:11567038 PMID:11823106 PMID:11940708 PMID:12083760 PMID:12086636 PMID:12566275 PMID:12610651 PMID:12754708 PMID:12821740 PMID:12919402 PMID:14504318 PMID:14672992 PMID:14702334 PMID:14738421 PMID:15263074 PMID:15277629 PMID:15508916 PMID:16199547 PMID:16210358 PMID:16359470 PMID:16380441 PMID:16458823 PMID:16525050 PMID:16541393 PMID:16713913 PMID:16713920 PMID:17054684 PMID:17054685 PMID:17166794 PMID:17347258 PMID:17507202 PMID:17537961 PMID:17561957 PMID:17576681 PMID:17903680 PMID:17928445 PMID:18021921 PMID:18031552 PMID:18056581 PMID:18076640 PMID:18413471 PMID:18414213 PMID:18554359 PMID:18566737 PMID:18621678 PMID:18755274 PMID:18804930 PMID:18930999 PMID:19200853 PMID:19220312 PMID:19236456 PMID:19332696 PMID:19350499 PMID:19359143 PMID:19522081 PMID:19563349 PMID:19563458 PMID:19585586 PMID:19586930 PMID:19589774 PMID:19673951 PMID:19782004 PMID:19809937 PMID:20100831 PMID:20110217 PMID:20117752 PMID:20301494 PMID:20301562 PMID:20431604 PMID:20452746 PMID:20522430 PMID:20550552 PMID:20562086 PMID:20600615 PMID:20729507 PMID:20879882 PMID:21248271 PMID:21371021 PMID:21396429 PMID:21425109 PMID:21555645 PMID:21703448 PMID:21713554 PMID:21719429 PMID:21864321 PMID:21868258 PMID:21906962 PMID:22050978 PMID:22071555 PMID:22092154 PMID:22140375 PMID:22147323 PMID:22150645 PMID:22151702 PMID:22156295 PMID:22409937 PMID:22525008 PMID:22550089 PMID:22612257 PMID:22780858 PMID:22848613 PMID:22944210 PMID:23086956 PMID:23195492 PMID:23398611 PMID:23527921 PMID:23662938 PMID:23708187 PMID:23762420 PMID:23808377 PMID:23821540 PMID:23884151 PMID:23895530 PMID:23917401 PMID:23934111 PMID:23945787 PMID:24066114 PMID:24136861 PMID:24155976 PMID:24168886 PMID:24277604 PMID:24328833 PMID:24412860 PMID:24502503 PMID:24656210 PMID:24679980 PMID:24776920 PMID:25206388 PMID:25243660 PMID:25326635 PMID:25348405 PMID:25378155 PMID:25401298 PMID:25459968 PMID:25459969 PMID:25525159 PMID:25576396 PMID:25590135 PMID:25669891 PMID:25741868 PMID:25754450 PMID:25818041 PMID:25885068 PMID:25986186 PMID:26096185 PMID:26169758 PMID:26188943 PMID:26232052 PMID:26236192 PMID:26467025 PMID:26544041 PMID:26633542 PMID:26699486 PMID:26763045 PMID:26845707 PMID:26990884 PMID:26993267 PMID:27066544 PMID:27113213 PMID:27197941 PMID:27231140 PMID:27236449 PMID:27267376 PMID:27465585 PMID:27652284 PMID:27781031 PMID:27864847 PMID:27959697 PMID:28012175 PMID:28074849 PMID:28079314 PMID:28084635 PMID:28102150 PMID:28148630 PMID:28150151 PMID:28186331 PMID:28192756 PMID:28202706 PMID:28387369 PMID:28488083 PMID:28492532 PMID:28518168 PMID:28544625 PMID:28554332 PMID:28590052 PMID:28664031 PMID:28708303 PMID:28794249 PMID:28837158 PMID:28864458 PMID:29056246 PMID:29100083 PMID:29141279 PMID:29141311 PMID:29142202 PMID:29145747 PMID:29186148 PMID:29190809 PMID:29314583 PMID:29358611 PMID:29408779 PMID:29460957 PMID:29655203 PMID:29745119 PMID:29760947 PMID:29852413 PMID:29930392 PMID:29933521 PMID:29948376 PMID:29981888 PMID:30034362 PMID:30146492 PMID:30182498 PMID:30185235 PMID:30258939 PMID:30311386 PMID:30321769 PMID:30368457 PMID:30498473 PMID:30525188 PMID:30526861 PMID:30577886 PMID:30619928 PMID:30659983 PMID:30779207 PMID:30805006 PMID:30868114 PMID:30921204 PMID:30945278 PMID:31001185 PMID:31009440 PMID:31019026 PMID:31031587 PMID:31054490 PMID:31069529 PMID:31164858 PMID:31440721 PMID:31487502 PMID:31618474 PMID:31730442 PMID:31755124 PMID:31765958 PMID:31780880 PMID:31782251 PMID:31791873 PMID:31864146 PMID:31875159 PMID:31880072 PMID:32056211 PMID:32090326 PMID:32238909 PMID:32461654 PMID:32538476 PMID:32573669 PMID:32581296 PMID:32581362 PMID:32593896 PMID:32613771 PMID:32702657 PMID:32845893 PMID:33067208 PMID:33084218 PMID:33278787 PMID:33391346 PMID:33411788 PMID:33674996 PMID:34015165 PMID:34107977 PMID:34163418 PMID:34268891 PMID:34338318 PMID:34379890 PMID:34489640 PMID:34539730 PMID:35072530 PMID:35074891 PMID:35087721 PMID:35571373 PMID:35627257 PMID:35663268 PMID:36158059 PMID:36287100 PMID:36684540 PMID:37524782 PMID:39033378 More...
|
|
NCBI chrNW_004624787:3,767,405...3,939,065
Ensembl chrNW_004624787:3,768,120...3,908,889
|
|
G |
Scn9a |
sodium voltage-gated channel alpha subunit 9 |
|
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 chrNW_004624787:3,995,319...4,148,230
Ensembl chrNW_004624787:3,997,887...4,085,449
|
|
G |
Slc25a22 |
solute carrier family 25 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 chrNW_004624766:21,710,867...21,717,724
Ensembl chrNW_004624766:21,712,907...21,717,724
|
|
G |
Snx27 |
sorting nexin 27 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004624772:19,305,355...19,385,298
Ensembl chrNW_004624772:19,305,359...19,385,292
|
|
G |
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 chrNW_004624824:245,717...251,603
Ensembl chrNW_004624824:243,939...254,249
|
|
G |
Tspan12 |
tetraspanin 12 |
|
ISO |
ClinVar Annotator: match by term: Early myoclonic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624783:15,226,927...15,285,931
Ensembl chrNW_004624783:15,226,852...15,285,931
|
|
|
G |
Samd12 |
sterile alpha motif domain containing 12 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 1 |
OMIM ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624763:16,475,162...16,867,444
Ensembl chrNW_004624763:16,477,471...16,867,493
|
|
|
G |
Adra2b |
adrenoceptor 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 chrNW_004624749:2,226,809...2,230,413
Ensembl chrNW_004624749:2,226,738...2,230,381
|
|
G |
Stard7 |
StAR related lipid transfer domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 2 |
OMIM ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624749:2,289,591...2,312,423
Ensembl chrNW_004624749:2,294,141...2,312,559
|
|
|
G |
Marchf6 |
membrane associated ring-CH-type finger 6 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 3 |
OMIM ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624751:7,715,065...7,781,320
Ensembl chrNW_004624751:7,715,007...7,780,460
|
|
|
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 chrNW_004624730:72,693,216...72,781,611
Ensembl chrNW_004624730:72,693,218...72,781,276
|
|
|
G |
Adipor1 |
adiponectin receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:7,896,508...7,912,088
|
|
G |
Adora1 |
adenosine A1 receptor |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:7,674,164...7,705,736
Ensembl chrNW_004624807:7,674,927...7,705,051
|
|
G |
Arl8a |
ARF like GTPase 8A |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:8,594,097...8,602,640
Ensembl chrNW_004624807:8,593,619...8,602,647
|
|
G |
Ascl5 |
achaete-scute family bHLH transcription factor 5 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:9,558,031...9,559,263
Ensembl chrNW_004624807:9,558,031...9,558,624
|
|
G |
Atp2b4 |
ATPase plasma membrane Ca2+ transporting 4 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:7,201,924...7,292,010
Ensembl chrNW_004624807:7,201,777...7,250,386
|
|
G |
Avpr1b |
arginine vasopressin receptor 1B |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:5,237,036...5,247,383
Ensembl chrNW_004624807:5,237,036...5,241,845
|
|
G |
Btg2 |
BTG anti-proliferation factor 2 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:7,541,335...7,545,412
Ensembl chrNW_004624807:7,540,602...7,545,521
|
|
G |
Cacna1s |
calcium voltage-gated channel subunit alpha1 S |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:9,560,004...9,618,942
Ensembl chrNW_004624807:9,559,954...9,619,132
|
|
G |
Camsap2 |
calmodulin regulated spectrin associated protein family member 2 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:9,766,238...9,879,930
Ensembl chrNW_004624807:9,766,139...9,879,513
|
|
G |
Cdk18 |
cyclin dependent kinase 18 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:5,683,454...5,706,823
Ensembl chrNW_004624807:5,684,661...5,691,456
|
|
G |
Chi3l1 |
chitinase 3 like 1 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:7,655,777...7,664,484
Ensembl chrNW_004624807:7,655,620...7,662,362
|
|
G |
Chit1 |
chitinase 1 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:7,612,263...7,625,782
Ensembl chrNW_004624807:7,612,293...7,625,535
|
|
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 chrNW_004624807:6,052,591...6,080,421
Ensembl chrNW_004624807:6,056,339...6,073,588
|
|
G |
Csrp1 |
cysteine and glycine rich protein 1 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:9,226,747...9,247,004
Ensembl chrNW_004624807:9,235,783...9,247,615
|
|
G |
Ctse |
cathepsin E |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:5,291,993...5,306,507
Ensembl chrNW_004624807:5,291,736...5,305,104
|
|
G |
Ddx59 |
DEAD-box helicase 59 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:9,951,423...9,985,656
Ensembl chrNW_004624807:9,951,988...9,986,312
|
|
G |
Dstyk |
dual serine/threonine and tyrosine protein kinase |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:5,942,610...5,993,049
Ensembl chrNW_004624807:5,942,799...5,993,049
|
|
G |
Dyrk3 |
dual specificity tyrosine phosphorylation regulated kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:4,800,801...4,815,779
Ensembl chrNW_004624807:4,797,401...4,809,444
|
|
G |
Eif2d |
eukaryotic translation initiation factor 2D |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:4,818,652...4,834,898
Ensembl chrNW_004624807:4,818,585...4,836,280
|
|
G |
Elf3 |
E74 like ETS transcription factor 3 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:8,719,835...8,725,911
|
|
G |
Elk4 |
ETS transcription factor ELK4 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:5,603,815...5,620,856
Ensembl chrNW_004624807:5,604,183...5,617,319
|
|
G |
Etnk2 |
ethanolamine kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:6,829,789...6,848,295
Ensembl chrNW_004624807:6,829,827...6,845,850
|
|
G |
Fam72a |
family with sequence similarity 72 member A |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:5,169,178...5,184,597
|
|
G |
Fmod |
fibromodulin |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:7,507,670...7,518,076
Ensembl chrNW_004624807:7,507,449...7,518,636
|
|
G |
Golt1a |
golgi transport 1A |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:6,787,933...6,799,206
Ensembl chrNW_004624807:6,795,884...6,798,898
|
|
G |
Gpr25 |
G protein-coupled receptor 25 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:9,753,874...9,755,905
Ensembl chrNW_004624807:9,754,779...9,755,873
|
|
G |
Gpr37l1 |
G protein-coupled receptor 37 like 1 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:8,605,488...8,611,760
Ensembl chrNW_004624807:8,605,488...8,611,669
|
|
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 chrNW_004624807:9,467,185...9,494,694
|
|
G |
Ikbke |
inhibitor of nuclear factor kappa B kinase subunit epsilon |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:4,913,734...4,934,096
Ensembl chrNW_004624807:4,913,742...4,933,267
|
|
G |
Il10 |
interleukin 10 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732
|
|
G |
Inava |
innate immunity activator |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:9,718,307...9,738,282
Ensembl chrNW_004624807:9,718,307...9,738,148
|
|
G |
Ipo9 |
importin 9 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:8,896,540...8,944,003
Ensembl chrNW_004624807:8,900,702...8,944,336
|
|
G |
Kdm5b |
lysine demethylase 5B |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:8,011,731...8,091,352
Ensembl chrNW_004624807:8,011,878...8,093,758
|
|
G |
Kif14 |
kinesin family member 14 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:10,093,518...10,144,484
Ensembl chrNW_004624807:10,092,934...10,143,399
|
|
G |
Kif21b |
kinesin family member 21B |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:9,633,009...9,681,228
Ensembl chrNW_004624807:9,633,281...9,677,260
|
|
G |
Kiss1 |
KiSS-1 metastasis suppressor |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:6,800,144...6,805,555
Ensembl chrNW_004624807:6,803,265...6,805,433
|
|
G |
Klhdc8a |
kelch domain containing 8A |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:5,832,215...5,839,408
Ensembl chrNW_004624807:5,831,153...5,840,998
|
|
G |
Klhl12 |
kelch like family member 12 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:7,919,216...7,948,254
Ensembl chrNW_004624807:7,919,700...7,948,217
|
|
G |
Lad1 |
ladinin 1 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:9,315,172...9,329,545
Ensembl chrNW_004624807:9,316,457...9,328,485
|
|
G |
Lax1 |
lymphocyte transmembrane adaptor 1 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:7,182,094...7,192,412
Ensembl chrNW_004624807:7,183,832...7,192,320
|
|
G |
Lemd1 |
LEM domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:5,773,585...5,801,530
|
|
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 chrNW_004624807:8,437,923...8,551,913
Ensembl chrNW_004624807:8,437,424...8,552,282
|
|
G |
Lmod1 |
leiomodin 1 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:8,834,462...8,880,048
Ensembl chrNW_004624807:8,833,926...8,881,702
|
|
G |
LOC101709232 |
NADH-cytochrome b5 reductase 1 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:7,887,415...7,892,667
Ensembl chrNW_004624807:7,886,558...7,892,903
|
|
G |
Lrrn2 |
leucine rich repeat neuronal 2 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:6,376,669...6,436,809
|
|
G |
Mapkapk2 |
MAPK activated protein kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:4,726,511...4,774,945
Ensembl chrNW_004624807:4,724,234...4,796,143
|
|
G |
Mdm4 |
MDM4 regulator of p53 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:6,480,785...6,522,149
Ensembl chrNW_004624807:6,486,333...6,522,801
|
|
G |
Mfsd4a |
major facilitator superfamily domain containing 4A |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:5,627,734...5,655,218
Ensembl chrNW_004624807:5,627,194...5,655,222
|
|
G |
Mybph |
myosin binding protein H |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:7,665,505...7,673,819
Ensembl chrNW_004624807:7,666,174...7,678,068
|
|
G |
Myog |
myogenin |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:7,742,926...7,753,149
Ensembl chrNW_004624807:7,749,852...7,753,336
|
|
G |
Nav1 |
neuron navigator 1 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:8,945,808...9,196,005
Ensembl chrNW_004624807:8,952,342...9,196,073
|
|
G |
Nfasc |
neurofascin |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:6,097,507...6,260,880
Ensembl chrNW_004624807:6,103,524...6,226,583
|
|
G |
Nuak2 |
NUAK family kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:5,850,857...5,869,284
Ensembl chrNW_004624807:5,850,600...5,869,547
|
|
G |
Nucks1 |
nuclear casein kinase and cyclin dependent kinase substrate 1 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:5,495,770...5,535,907
|
|
G |
Optc |
opticin |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:7,389,534...7,399,824
|
|
G |
Phlda3 |
pleckstrin homology like domain family A member 3 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:9,259,437...9,262,528
Ensembl chrNW_004624807:9,259,456...9,262,531
|
|
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 chrNW_004624807:6,543,665...6,612,833
Ensembl chrNW_004624807:6,554,926...6,612,831
|
|
G |
Pkp1 |
plakophilin 1 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:9,374,206...9,419,075
Ensembl chrNW_004624807:9,372,099...9,419,067
|
|
G |
Plekha6 |
pleckstrin homology domain containing A6 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:6,653,383...6,784,287
Ensembl chrNW_004624807:6,712,883...6,784,620
|
|
G |
Pm20d1 |
peptidase M20 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:5,406,363...5,428,392
Ensembl chrNW_004624807:5,408,689...5,432,131
|
|
G |
Ppfia4 |
PTPRF interacting protein alpha 4 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:7,757,385...7,807,797
Ensembl chrNW_004624807:7,759,616...7,793,560
|
|
G |
Ppp1r12b |
protein phosphatase 1 regulatory subunit 12B |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:8,203,118...8,414,121
Ensembl chrNW_004624807:8,209,547...8,414,511
|
|
G |
Ppp1r15b |
protein phosphatase 1 regulatory subunit 15B |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:6,622,816...6,631,027
Ensembl chrNW_004624807:6,623,245...6,633,334
|
|
G |
Prelp |
proline and arginine rich end leucine rich repeat protein |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:7,400,999...7,413,455
Ensembl chrNW_004624807:7,403,305...7,413,414
|
|
G |
Ptpn7 |
protein tyrosine phosphatase non-receptor type 7 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:8,575,414...8,593,063
Ensembl chrNW_004624807:8,575,371...8,593,552
|
|
G |
Rab29 |
RAB29, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:5,478,570...5,483,473
Ensembl chrNW_004624807:5,478,707...5,483,475
|
|
G |
Rabif |
RAB interacting factor |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:7,950,685...7,962,367
Ensembl chrNW_004624807:7,950,666...7,960,596
|
|
G |
Rassf5 |
Ras association domain family member 5 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:4,837,106...4,905,717
Ensembl chrNW_004624807:4,837,730...4,905,711
|
|
G |
Rbbp5 |
RB binding protein 5, histone lysine methyltransferase complex subunit |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:6,011,861...6,046,927
Ensembl chrNW_004624807:6,011,289...6,046,923
|
|
G |
Ren |
renin |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:6,817,472...6,827,374
Ensembl chrNW_004624807:6,817,195...6,827,462
|
|
G |
Rhex |
regulator of hemoglobinization and erythroid cell expansion |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:5,247,637...5,250,036
|
|
G |
Rnpep |
arginyl aminopeptidase |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:8,737,839...8,754,414
|
|
G |
Shisa4 |
shisa family member 4 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:8,884,641...8,888,164
Ensembl chrNW_004624807:8,881,767...8,888,534
|
|
G |
Slc26a9 |
solute carrier family 26 member 9 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:5,364,708...5,385,832
Ensembl chrNW_004624807:5,366,820...5,386,150
|
|
G |
Slc41a1 |
solute carrier family 41 member 1 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:5,445,111...5,465,844
Ensembl chrNW_004624807:5,445,121...5,466,095
|
|
G |
Slc45a3 |
solute carrier family 45 member 3 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:5,564,530...5,583,638
Ensembl chrNW_004624807:5,564,545...5,583,816
|
|
G |
Snrpe |
small nuclear ribonucleoprotein polypeptide E |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:7,079,944...7,086,973
Ensembl chrNW_004624807:7,079,090...7,087,215
|
|
G |
Sox13 |
SRY-box transcription factor 13 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:6,848,218...6,887,666
Ensembl chrNW_004624807:6,848,218...6,888,467
|
|
G |
Srgap2 |
SLIT-ROBO Rho GTPase activating protein 2 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:4,937,573...5,169,104
Ensembl chrNW_004624807:4,935,472...5,169,050
|
|
G |
Syt2 |
synaptotagmin 2 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:8,103,665...8,201,567
Ensembl chrNW_004624807:8,160,431...8,196,916
|
|
G |
Timm17a |
translocase of inner mitochondrial membrane 17A |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:8,814,584...8,826,649
Ensembl chrNW_004624807:8,814,582...8,826,622
|
|
G |
Tmcc2 |
transmembrane and coiled-coil domain family 2 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:5,890,638...5,928,488
Ensembl chrNW_004624807:5,890,542...5,927,194
|
|
G |
Tmem183a |
transmembrane protein 183A |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:7,807,543...7,822,789
Ensembl chrNW_004624807:7,807,543...7,822,825
|
|
G |
Tmem81 |
transmembrane protein 81 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:6,048,422...6,049,961
Ensembl chrNW_004624807:6,047,323...6,049,616
|
|
G |
Tmem9 |
transmembrane protein 9 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:9,525,770...9,544,757
Ensembl chrNW_004624807:9,525,855...9,544,757
|
|
G |
Tnni1 |
troponin I1, slow skeletal type |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:9,295,121...9,306,368
Ensembl chrNW_004624807:9,294,951...9,308,446
|
|
G |
Tnnt2 |
troponin T2, cardiac type |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:9,332,202...9,348,610
Ensembl chrNW_004624807:9,336,904...9,348,396
|
|
G |
Ube2t |
ubiquitin conjugating enzyme E2 T |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:8,420,739...8,429,805
Ensembl chrNW_004624807:8,425,899...8,429,516
|
|
G |
Zbed6 |
zinc finger BED-type containing 6 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:7,158,405...7,165,500
|
|
G |
Zc3h11a |
zinc finger CCCH-type containing 11A |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624807:7,099,539...7,165,450
Ensembl chrNW_004624807:7,096,854...7,165,394
|
|
|
G |
Tnrc6a |
trinucleotide repeat containing adaptor 6A |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 6 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004624782:9,608,245...9,807,237
|
|
|
G |
Rapgef2 |
Rap guanine nucleotide exchange factor 2 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 7 |
OMIM ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624848:3,968,845...4,184,740
Ensembl chrNW_004624848:3,968,362...4,182,885
|
|
|
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 chrNW_004624730:45,653,470...45,698,461
Ensembl chrNW_004624730:45,654,022...45,678,745
|
|
G |
Serpinb7 |
serpin family B member 7 |
|
ISO |
|
RGD |
PMID:16782060 |
RGD:7207386 |
NCBI chrNW_004624792:9,730,223...9,794,673
|
|
G |
Serpini1 |
serpin family I member 1 |
|
ISO |
ClinVar Annotator: match by term: Encephalopathy, familial, with Collins bodies | ClinVar Annotator: match by term: Familial encephalopathy with neuroserpin inclusion bodies |
OMIM ClinVar |
PMID:9536098 PMID:11138927 PMID:11880376 PMID:12103288 PMID:15090543 PMID:15543491 PMID:16199547 PMID:17576681 PMID:18300272 PMID:18591508 PMID:18940798 PMID:19549782 PMID:21435071 PMID:23801932 PMID:23814041 PMID:25401298 PMID:25741868 PMID:26367528 PMID:26467025 PMID:28363799 PMID:28492532 PMID:28518168 PMID:28631894 PMID:29249370 PMID:32461654 More...
|
|
NCBI chrNW_004624730:45,698,714...45,791,744
Ensembl chrNW_004624730:45,739,911...45,795,570
|
|
|
G |
Scn8a |
sodium voltage-gated channel alpha subunit 8 |
|
ISO |
ClinVar Annotator: match by term: Myoclonus, familial, 2 |
OMIM ClinVar |
PMID:25741868 PMID:26467025 PMID:27875746 PMID:28492532 PMID:29726066 PMID:30951195 More...
|
|
NCBI chrNW_004624816:498,737...631,850
Ensembl chrNW_004624816:499,179...631,936
|
|
|
G |
Clcn2 |
chloride voltage-gated channel 2 |
susceptibility |
ISO |
ClinVar Annotator: match by term: EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 11 |
ClinVar OMIM |
PMID:1521363 PMID:12612585 PMID:15252188 PMID:15505175 PMID:16199547 PMID:16932951 PMID:17567819 PMID:17762171 PMID:19191339 PMID:19200853 PMID:19710712 PMID:19861545 PMID:21703448 PMID:23542698 PMID:23632988 PMID:23707145 PMID:25741868 PMID:25907736 PMID:28488083 PMID:28492532 PMID:29403011 PMID:31589614 PMID:32906206 More...
|
|
NCBI chrNW_004624730:72,228,912...72,242,636
Ensembl chrNW_004624730:72,228,189...72,244,332
|
|
|
G |
Gabra1 |
gamma-aminobutyric acid type A receptor subunit alpha1 |
|
ISO |
ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 | ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 13 |
ClinVar OMIM |
PMID:11992121 PMID:16530959 PMID:16569738 PMID:18414213 PMID:18534981 PMID:20551311 PMID:21714819 PMID:24623842 PMID:25741868 PMID:26467025 PMID:26918889 PMID:27353043 PMID:27521439 PMID:28251550 PMID:28492532 PMID:28837158 PMID:29655203 PMID:32238909 More...
|
|
NCBI chrNW_004624733:27,708,364...27,763,824
Ensembl chrNW_004624733:27,708,271...27,763,523
|
|
|
G |
Chrna7 |
cholinergic receptor nicotinic alpha 7 subunit |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7 |
ClinVar |
PMID:25326635 PMID:25741868 |
|
NCBI chrNW_004624768:908,907...1,024,953
Ensembl chrNW_004624768:909,099...1,024,902
|
|
G |
Efhc1 |
EF-hand domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004624855:3,611,016...3,677,813
Ensembl chrNW_004624855:3,611,176...3,677,675
|
|
G |
Scn3a |
sodium voltage-gated channel alpha subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624732:222,657...330,959
Ensembl chrNW_004624732:251,860...328,917
|
|
|
G |
Sdha |
succinate dehydrogenase complex flavoprotein subunit A |
|
ISO |
ClinVar Annotator: match by term: Infantile polymyoclonus |
ClinVar |
PMID:22955521 PMID:22974104 PMID:24781757 PMID:25720320 PMID:25741868 PMID:28492532 PMID:29177515 PMID:29978154 PMID:30854332 PMID:30877234 PMID:31589614 PMID:31981491 PMID:32581362 PMID:33854214 More...
|
|
NCBI chrNW_004624751:54,778...90,457
Ensembl chrNW_004624751:54,779...90,447
|
|
|
G |
Brd2 |
bromodomain containing 2 |
|
ISO |
DNA:SNPs:promoter (human) |
RGD |
PMID:12830434 |
RGD:1358444 |
NCBI chrNW_004624754:23,742,506...23,750,668
Ensembl chrNW_004624754:23,742,509...23,750,062
|
|
G |
Cacna1g |
calcium voltage-gated channel subunit alpha1 G |
|
ISO |
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy |
ClinVar |
|
|
NCBI chrNW_004624795:6,443,322...6,501,673
Ensembl chrNW_004624795:6,443,781...6,501,050
|
|
G |
Cacnb4 |
calcium voltage-gated channel auxiliary subunit beta 4 |
|
ISO |
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy |
ClinVar |
PMID:10762541 PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chrNW_004624866:4,973,087...5,287,477
Ensembl chrNW_004624866:4,973,207...5,281,746
|
|
G |
Caprin1 |
cell cycle associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy |
ClinVar |
PMID:25741868 PMID:35979925 |
|
NCBI chrNW_004624767:13,010,512...13,049,507
Ensembl chrNW_004624767:13,012,149...13,048,808
|
|
G |
Chrna1 |
cholinergic receptor nicotinic alpha 1 subunit |
|
ISO |
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004624787:11,933,927...11,950,017
Ensembl chrNW_004624787:11,934,433...11,950,005
|
|
G |
Efhc1 |
EF-hand domain containing 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: EJM1 | ClinVar Annotator: match by term: Janz syndrome | ClinVar Annotator: match by term: Juvenile myoclonic epilepsy | ClinVar Annotator: match by term: Myoclonic Epilepsy, Juvenile, 1 |
OMIM ClinVar |
PMID:8737649 PMID:9536098 PMID:12439895 PMID:15258581 PMID:16199547 PMID:16839746 PMID:17054699 PMID:17159113 PMID:17576681 PMID:17634063 PMID:18414213 PMID:18505993 PMID:18823326 PMID:20981092 PMID:22226147 PMID:22690745 PMID:22727576 PMID:22926142 PMID:23527921 PMID:24965021 PMID:25108116 PMID:25326635 PMID:25489633 PMID:25625532 PMID:25741868 PMID:26467025 PMID:27467453 PMID:28370826 PMID:28492532 PMID:29750216 PMID:34426522 More...
|
|
NCBI chrNW_004624855:3,611,016...3,677,813
Ensembl chrNW_004624855:3,611,176...3,677,675
|
|
G |
Gabra1 |
gamma-aminobutyric acid type A receptor subunit alpha1 |
|
ISO |
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy |
ClinVar |
|
|
NCBI chrNW_004624733:27,708,364...27,763,824
Ensembl chrNW_004624733:27,708,271...27,763,523
|
|
G |
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 chrNW_004624753:17,770,326...17,832,560
Ensembl chrNW_004624753:17,789,789...17,832,747
|
|
G |
Jrk |
Jrk helix-turn-helix protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11463517 |
|
NCBI chrNW_004624735:13,923,296...13,931,788
Ensembl chrNW_004624735:13,928,822...13,930,501
|
|
|
G |
Cilk1 |
ciliogenesis associated kinase 1 |
|
ISO |
ClinVar Annotator: match by term: CILK1-related condition |
ClinVar OMIM |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004624850:219,042...286,756
Ensembl chrNW_004624850:218,958...278,199
|
|
|
G |
Epm2a |
EPM2A glucan phosphatase, laforin |
|
ISO |
ClinVar Annotator: match by term: Lafora disease |
ClinVar |
PMID:9771710 PMID:9931343 PMID:10932264 PMID:11175283 PMID:11735300 PMID:12019207 PMID:14532330 PMID:14706656 PMID:16021330 PMID:16134145 PMID:16199547 PMID:17010495 PMID:17389303 PMID:20738377 PMID:21623095 PMID:25246353 PMID:25544560 PMID:25741868 PMID:26467025 PMID:27843123 PMID:28492532 PMID:33773408 PMID:34568804 PMID:34755096 More...
|
|
NCBI chrNW_004624753:8,715,898...8,805,728
Ensembl chrNW_004624753:8,715,898...8,804,194
|
|
G |
Nhlrc1 |
NHL repeat containing E3 ubiquitin protein ligase 1 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy progressive myoclonic 2 | ClinVar Annotator: match by term: Lafora disease |
ClinVar |
PMID:12958597 PMID:12960212 PMID:15781812 PMID:15930137 PMID:16021330 PMID:16134145 PMID:16190947 PMID:16311711 PMID:16529633 PMID:16950819 PMID:17389303 PMID:17952067 PMID:18029386 PMID:18256682 PMID:18263761 PMID:18311786 PMID:18414213 PMID:19267391 PMID:19322595 PMID:19744044 PMID:20301563 PMID:20738377 PMID:21505799 PMID:22047982 PMID:22815132 PMID:23317923 PMID:23806086 PMID:24452334 PMID:25270369 PMID:25401298 PMID:25667860 PMID:25683376 PMID:25741868 PMID:26467025 PMID:27054081 PMID:27194917 PMID:28492532 PMID:28556688 PMID:29431110 PMID:29588937 PMID:29655203 PMID:29899791 PMID:30701169 PMID:31227012 PMID:31758957 PMID:31858178 PMID:32587944 More...
|
|
NCBI chrNW_004624756:8,558,470...8,560,610
|
|
G |
Tpmt |
thiopurine S-methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Lafora disease |
ClinVar |
PMID:15781812 PMID:17389303 PMID:23317923 PMID:28492532 |
|
NCBI chrNW_004624756:8,511,275...8,532,100
Ensembl chrNW_004624756:8,511,315...8,531,745
|
|
|
G |
Il1a |
interleukin 1 alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
|
NCBI chrNW_004624749:12,795,967...12,805,658
Ensembl chrNW_004624749:12,795,946...12,805,154
|
|
G |
Il1b |
interleukin 1 beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
|
NCBI chrNW_004624749:12,852,128...12,858,478
Ensembl chrNW_004624749:12,852,021...12,858,760
|
|
|
G |
Adsl |
adenylosuccinate lyase |
|
ISO |
ClinVar Annotator: match by term: Generalized myoclonic seizures |
ClinVar |
PMID:10888601 PMID:17188615 PMID:18524658 PMID:20127976 PMID:22180458 PMID:25741868 PMID:28492532 PMID:31467849 PMID:31623504 PMID:33648541 More...
|
|
NCBI chrNW_004624752:8,098,612...8,117,635
Ensembl chrNW_004624752:8,098,088...8,118,091
|
|
G |
Atp2b2 |
ATPase plasma membrane Ca2+ transporting 2 |
|
ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
|
NCBI chrNW_004624731:4,836,109...5,190,990
Ensembl chrNW_004624731:5,029,421...5,190,996
|
|
G |
Brk1 |
BRICK1 subunit of SCAR/WAVE actin nucleating complex |
|
ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
|
NCBI chrNW_004624731:4,679,060...4,685,892
Ensembl chrNW_004624731:4,678,731...4,687,617
|
|
G |
Chd2 |
chromodomain helicase DNA binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy |
ClinVar |
|
|
NCBI chrNW_004624768:10,786,139...10,922,558
Ensembl chrNW_004624768:10,785,815...10,922,790
|
|
G |
Chrna2 |
cholinergic receptor nicotinic alpha 2 subunit |
|
ISO |
ClinVar Annotator: match by term: myoclonic epilepsy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624758:22,182,468...22,200,076
Ensembl chrNW_004624758:22,182,951...22,200,063
|
|
G |
Cstb |
cystatin B |
|
ISO |
ClinVar Annotator: match by term: Myoclonus epilepsy |
ClinVar |
PMID:8596935 PMID:9054946 PMID:9342192 PMID:15329070 PMID:15483648 PMID:16155205 PMID:17920138 PMID:18028412 PMID:18925453 PMID:20078424 PMID:21757863 PMID:22936898 PMID:25741868 PMID:26467025 PMID:26843564 PMID:28492532 PMID:29358611 More...
|
|
NCBI chrNW_004624745:30,152,988...30,155,704
Ensembl chrNW_004624745:30,153,023...30,155,712
|
|
G |
Epm2a |
EPM2A glucan phosphatase, laforin |
|
ISO |
ClinVar Annotator: match by term: Myoclonus epilepsy |
ClinVar |
PMID:9771710 PMID:9931343 PMID:11175283 PMID:12019207 PMID:14532330 PMID:20738377 PMID:21623095 PMID:25246353 PMID:25741868 PMID:26467025 PMID:28492532 PMID:33773408 PMID:34755096 More...
|
|
NCBI chrNW_004624753:8,715,898...8,805,728
Ensembl chrNW_004624753:8,715,898...8,804,194
|
|
G |
Fancd2 |
FA complementation group D2 |
|
ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
|
NCBI chrNW_004624731:4,577,663...4,671,086
Ensembl chrNW_004624731:4,611,963...4,671,765
|
|
G |
Fancd2os |
FANCD2 opposite strand |
|
ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
|
NCBI chrNW_004624731:4,672,192...4,675,326
Ensembl chrNW_004624731:4,672,535...4,673,071
|
|
G |
Ghrl |
ghrelin and obestatin prepropeptide |
|
ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
|
NCBI chrNW_004624731:5,257,813...5,262,878
Ensembl chrNW_004624731:5,257,830...5,262,473
|
|
G |
Gosr2 |
golgi SNAP receptor complex member 2 |
|
ISO |
ClinVar Annotator: match by term: Myoclonus epilepsy |
ClinVar |
PMID:16199547 PMID:21549339 PMID:25326637 PMID:25741868 PMID:28492532 PMID:31440721 PMID:34167170 PMID:37895210 More...
|
|
NCBI chrNW_004624849:3,006,497...3,029,334
Ensembl chrNW_004624849:3,009,505...3,027,501
|
|
G |
Hnrnpu |
heterogeneous nuclear ribonucleoprotein U |
|
ISO |
ClinVar Annotator: match by term: Myoclonic absence seizure |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004624771:14,756,088...14,766,106
Ensembl chrNW_004624771:14,756,100...14,765,832
|
|
G |
Irak2 |
interleukin 1 receptor associated kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
|
NCBI chrNW_004624731:5,294,464...5,348,426
Ensembl chrNW_004624731:5,294,431...5,348,481
|
|
G |
Kcnb1 |
potassium voltage-gated channel subfamily B member 1 |
|
ISO |
ClinVar Annotator: match by term: Myoclonic absence seizure |
ClinVar |
PMID:25741868 PMID:26477325 PMID:28492532 PMID:28806457 PMID:29264397 PMID:31512327 PMID:31513310 PMID:31600826 PMID:32581362 More...
|
|
NCBI chrNW_004624790:5,901,809...6,007,847
Ensembl chrNW_004624790:5,902,077...6,003,591
|
|
G |
Lmnb2 |
lamin B2 |
|
ISO |
ClinVar Annotator: match by term: Generalized myoclonic seizures |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624828:5,630,328...5,648,231
Ensembl chrNW_004624828:5,633,191...5,648,240
|
|
G |
Pmp22 |
peripheral myelin protein 22 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17275665 |
|
NCBI chrNW_004624877:3,293,980...3,328,337
Ensembl chrNW_004624877:3,292,244...3,328,660
|
|
G |
Pomc |
proopiomelanocortin |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:6088243 |
|
NCBI chrNW_004624738:7,442,223...7,448,513
Ensembl chrNW_004624738:7,442,292...7,445,020
|
|
G |
Prickle2 |
prickle planar cell polarity protein 2 |
|
ISO |
ClinVar Annotator: match by term: Myoclonus epilepsy | ClinVar Annotator: match by term: myoclonic epilepsy |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 |
|
NCBI chrNW_004624888:1,537,080...1,825,955
Ensembl chrNW_004624888:1,537,138...1,821,215
|
|
G |
Prmt7 |
protein arginine methyltransferase 7 |
|
ISO |
ClinVar Annotator: match by term: Generalized myoclonic seizures |
ClinVar |
PMID:25741868 PMID:33085104 |
|
NCBI chrNW_004624746:17,949,443...18,017,344
Ensembl chrNW_004624746:17,948,085...18,001,259
|
|
G |
Rapgef2 |
Rap guanine nucleotide exchange factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29507423 |
|
NCBI chrNW_004624848:3,968,845...4,184,740
Ensembl chrNW_004624848:3,968,362...4,182,885
|
|
G |
Samd12 |
sterile alpha motif domain containing 12 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29507423 |
|
NCBI chrNW_004624763:16,475,162...16,867,444
Ensembl chrNW_004624763:16,477,471...16,867,493
|
|
G |
Scarb2 |
scavenger receptor class B member 2 |
|
ISO |
ClinVar Annotator: match by term: Myoclonus epilepsy |
ClinVar |
PMID:18308289 PMID:25741868 PMID:26467025 PMID:26836416 PMID:28492532 PMID:29261713 PMID:29358611 More...
|
|
NCBI chrNW_004624757:14,709,120...14,795,039
Ensembl chrNW_004624757:14,709,120...14,795,243
|
|
G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Myoclonic encephalopathy | ClinVar Annotator: match by term: myoclonic epilepsy |
ClinVar |
PMID:17347258 PMID:28492532 PMID:35571373 |
|
NCBI chrNW_004624787:3,767,405...3,939,065
Ensembl chrNW_004624787:3,768,120...3,908,889
|
|
G |
Sec13 |
SEC13 homolog, nuclear pore and COPII coat complex component |
|
ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
|
NCBI chrNW_004624731:5,194,852...5,217,821
Ensembl chrNW_004624731:5,194,961...5,217,821
|
|
G |
Sema6b |
semaphorin 6B |
|
ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624828:5,170,745...5,193,568
Ensembl chrNW_004624828:5,182,812...5,192,486
|
|
G |
Slc2a1 |
solute carrier family 2 member 1 |
|
ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624892:2,110,310...2,148,023
Ensembl chrNW_004624892:2,117,561...2,148,037
|
|
G |
Slc6a1 |
solute carrier family 6 member 1 |
|
ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy | ClinVar Annotator: match by term: Myoclonus epilepsy |
ClinVar |
PMID:9536098 PMID:14744863 PMID:15496410 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19344873 PMID:22495306 PMID:24859339 PMID:25363768 PMID:25741868 PMID:25865495 PMID:26467025 PMID:26716362 PMID:27541642 PMID:27824329 PMID:27959697 PMID:28135719 PMID:28191889 PMID:28213519 PMID:28492532 PMID:28708303 PMID:28856709 PMID:29315614 PMID:29358611 PMID:29933521 PMID:29961511 PMID:30132828 PMID:30525188 PMID:31031587 PMID:31176687 PMID:31273778 PMID:31302675 PMID:31332282 PMID:31401500 PMID:31780880 PMID:31785789 PMID:31981491 PMID:32005694 PMID:32581362 PMID:32660967 PMID:32913952 PMID:33004838 PMID:33961861 PMID:34006619 PMID:34028503 PMID:34489640 PMID:34653234 PMID:35701389 PMID:35761184 PMID:36674476 PMID:36895422 PMID:37700749 More...
|
|
NCBI chrNW_004624943:632,534...662,924
Ensembl chrNW_004624943:631,632...662,902
|
|
G |
Slc6a11 |
solute carrier family 6 member 11 |
|
ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
|
NCBI chrNW_004624943:694,447...803,993
Ensembl chrNW_004624943:692,513...804,023
|
|
G |
Slc7a6os |
solute carrier family 7 member 6 opposite strand |
|
ISO |
ClinVar Annotator: match by term: Generalized myoclonic seizures |
ClinVar |
PMID:25741868 PMID:33085104 |
|
NCBI chrNW_004624746:18,001,309...18,009,307
Ensembl chrNW_004624746:18,001,346...18,008,013
|
|
G |
St3gal3 |
ST3 beta-galactoside alpha-2,3-sialyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Generalized myoclonic seizures |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004624892:2,984,329...3,213,017
Ensembl chrNW_004624892:2,984,351...3,213,021
|
|
G |
Stxbp1 |
syntaxin binding protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18469812 PMID:29929108 |
|
NCBI chrNW_004624760:7,843,741...7,914,444
Ensembl chrNW_004624760:7,842,640...7,914,484
|
|
G |
Tatdn2 |
TatD DNase domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
|
NCBI chrNW_004624731:5,263,741...5,289,601
Ensembl chrNW_004624731:5,262,848...5,289,717
|
|
G |
Tnrc6a |
trinucleotide repeat containing adaptor 6A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29507423 |
|
NCBI chrNW_004624782:9,608,245...9,807,237
|
|
G |
Vhl |
von Hippel-Lindau tumor suppressor |
|
ISO |
ClinVar Annotator: match by term: Myoclonic-astatic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
|
NCBI chrNW_004624731:5,350,912...5,359,286
|
|
|
G |
Epm2a |
EPM2A glucan phosphatase, laforin |
|
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 chrNW_004624753:8,715,898...8,805,728
Ensembl chrNW_004624753:8,715,898...8,804,194
|
|
G |
Nhlrc1 |
NHL repeat containing E3 ubiquitin protein ligase 1 |
|
ISO |
ClinVar Annotator: match by term: Myoclonic epilepsy of Lafora 1 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624756:8,558,470...8,560,610
|
|
|
G |
Nhlrc1 |
NHL repeat containing E3 ubiquitin protein ligase 1 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 2b | ClinVar Annotator: match by term: Myoclonic epilepsy of Lafora 2 |
OMIM ClinVar |
PMID:12958597 PMID:12960212 PMID:15781812 PMID:15930137 PMID:16134145 PMID:16190947 PMID:16311711 PMID:16529633 PMID:16950819 PMID:17389303 PMID:17952067 PMID:18029386 PMID:18256682 PMID:18263761 PMID:18311786 PMID:19267391 PMID:19744044 PMID:20301563 PMID:20738377 PMID:21505799 PMID:22047982 PMID:22815132 PMID:24452334 PMID:25270369 PMID:25401298 PMID:25667860 PMID:25683376 PMID:25741868 PMID:26467025 PMID:27194917 PMID:28492532 PMID:28556688 PMID:29431110 PMID:29588937 PMID:30701169 PMID:31227012 PMID:31758957 PMID:31858178 PMID:32587944 More...
|
|
NCBI chrNW_004624756:8,558,470...8,560,610
|
|
|
G |
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 chrNW_004624824:181,696...204,045
Ensembl chrNW_004624824:181,735...204,029
|
|
G |
Kit |
KIT proto-oncogene, receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Familial infantile myoclonic epilepsy |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004624761:14,733,912...14,831,428
|
|
G |
Opa1 |
OPA1 mitochondrial dynamin like GTPase |
|
ISO |
ClinVar Annotator: match by term: Familial infantile myoclonic epilepsy |
ClinVar |
PMID:25326637 PMID:28492532 |
|
NCBI chrNW_004624730:63,911,066...63,994,886
Ensembl chrNW_004624730:63,911,066...63,995,596
|
|
G |
Tbc1d24 |
TBC1 domain family member 24 |
|
ISO |
ClinVar Annotator: match by term: Familial infantile myoclonic epilepsy |
OMIM ClinVar |
PMID:10574461 PMID:10741954 PMID:18414213 PMID:20727515 PMID:20797691 PMID:22277662 PMID:23526554 PMID:24033266 PMID:24291220 PMID:24848745 PMID:25741868 PMID:25769375 PMID:26207815 PMID:26371875 PMID:26467025 PMID:26668325 PMID:27259978 PMID:27281533 PMID:27784474 PMID:28292732 PMID:28301460 PMID:28428906 PMID:28492532 PMID:28726039 PMID:28951997 PMID:29358611 PMID:29671961 PMID:30180405 PMID:30311386 PMID:30335140 PMID:30776697 PMID:31112829 PMID:31216405 PMID:32004315 PMID:33619735 More...
|
|
NCBI chrNW_004624824:245,717...251,603
Ensembl chrNW_004624824:243,939...254,249
|
|
|
G |
Atp1a3 |
ATPase Na+/K+ transporting subunit alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624907:715,109...736,040
Ensembl chrNW_004624907:715,094...736,432
|
|
G |
Atp2b2 |
ATPase plasma membrane Ca2+ transporting 2 |
|
ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
|
NCBI chrNW_004624731:4,836,109...5,190,990
Ensembl chrNW_004624731:5,029,421...5,190,996
|
|
G |
Brk1 |
BRICK1 subunit of SCAR/WAVE actin nucleating complex |
|
ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
|
NCBI chrNW_004624731:4,679,060...4,685,892
Ensembl chrNW_004624731:4,678,731...4,687,617
|
|
G |
Brpf1 |
bromodomain and PHD finger containing 1 |
|
ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
|
NCBI chrNW_004624731:4,364,870...4,381,581
Ensembl chrNW_004624731:4,364,565...4,383,157
|
|
G |
Cacna1a |
calcium voltage-gated channel subunit alpha1 A |
|
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 chrNW_004624901:707,322...932,658
Ensembl chrNW_004624901:708,234...932,643
|
|
G |
Camk1 |
calcium/calmodulin dependent protein kinase I |
|
ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
|
NCBI chrNW_004624731:4,388,373...4,399,762
Ensembl chrNW_004624731:4,383,927...4,399,369
|
|
G |
Ccdc120 |
coiled-coil domain containing 120 |
|
ISO |
ClinVar Annotator: match by term: Early onset epileptic encephalopathy |
ClinVar |
PMID:26173968 |
|
NCBI chrNW_004624893:824,834...841,786
Ensembl chrNW_004624893:831,833...841,884
|
|
G |
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 chrNW_004624768:10,786,139...10,922,558
Ensembl chrNW_004624768:10,785,815...10,922,790
|
|
G |
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 chrNW_004624731:4,474,912...4,484,866
Ensembl chrNW_004624731:4,474,689...4,484,894
|
|
G |
Cpne9 |
copine family member 9 |
|
ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
|
NCBI chrNW_004624731:4,341,091...4,363,112
Ensembl chrNW_004624731:4,342,172...4,362,931
|
|
G |
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 chrNW_004624731:4,537,073...4,544,256
Ensembl chrNW_004624731:4,537,089...4,544,256
|
|
G |
Dnm1 |
dynamin 1 |
|
ISO |
|
RGD |
PMID:27363778 |
RGD:11557016 |
NCBI chrNW_004624760:6,605,902...6,646,575
Ensembl chrNW_004624760:6,604,787...6,646,622
|
|
G |
Emc3 |
ER membrane protein complex subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
|
NCBI chrNW_004624731:4,556,481...4,577,612
Ensembl chrNW_004624731:4,557,842...4,577,602
|
|
G |
Fancd2 |
FA complementation group D2 |
|
ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
|
NCBI chrNW_004624731:4,577,663...4,671,086
Ensembl chrNW_004624731:4,611,963...4,671,765
|
|
G |
Fancd2os |
FANCD2 opposite strand |
|
ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
|
NCBI chrNW_004624731:4,672,192...4,675,326
Ensembl chrNW_004624731:4,672,535...4,673,071
|
|
G |
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 chrNW_004624730:64,743,724...65,288,816
Ensembl chrNW_004624730:65,038,077...65,284,083
|
|
G |
Fmr1 |
Fragile X messenger ribonucleoprotein 1 |
|
ISO |
protein:decreased expression:hippocampus, cytosol (rat) |
RGD |
PMID:23831253 |
RGD:11667971 |
NCBI chrNW_004624883:645,524...681,705
Ensembl chrNW_004624883:645,449...682,292
|
|
G |
Ghrl |
ghrelin and obestatin prepropeptide |
|
ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
|
NCBI chrNW_004624731:5,257,813...5,262,878
Ensembl chrNW_004624731:5,257,830...5,262,473
|
|
G |
Il17rc |
interleukin 17 receptor C |
|
ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
|
NCBI chrNW_004624731:4,524,090...4,536,879
Ensembl chrNW_004624731:4,525,556...4,536,858
|
|
G |
Iqsec2 |
IQ motif and Sec7 domain ArfGEF 2 |
|
ISO |
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624909:462,724...564,989
Ensembl chrNW_004624909:460,626...565,133
|
|
G |
Irak2 |
interleukin 1 receptor associated kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
|
NCBI chrNW_004624731:5,294,464...5,348,426
Ensembl chrNW_004624731:5,294,431...5,348,481
|
|
G |
Limk1 |
LIM domain kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy |
ClinVar |
|
|
NCBI chrNW_004624740:13,824,930...13,847,605
Ensembl chrNW_004624740:13,823,437...13,847,808
|
|
G |
Mtmr14 |
myotubularin related protein 14 |
|
ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
|
NCBI chrNW_004624731:4,290,107...4,340,978
Ensembl chrNW_004624731:4,289,938...4,340,980
|
|
G |
Ogg1 |
8-oxoguanine DNA glycosylase |
|
ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
|
NCBI chrNW_004624731:4,383,000...4,388,486
Ensembl chrNW_004624731:4,383,434...4,388,196
|
|
G |
Pik3ap1 |
phosphoinositide-3-kinase adaptor protein 1 |
|
ISO |
ClinVar Annotator: match by term: Infantile spasm |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004624737:8,021,478...8,154,543
Ensembl chrNW_004624737:8,022,836...8,154,422
|
|
G |
Praf2 |
PRA1 domain family member 2 |
|
ISO |
ClinVar Annotator: match by term: Early onset epileptic encephalopathy |
ClinVar |
PMID:26173968 |
|
NCBI chrNW_004624893:842,293...845,494
Ensembl chrNW_004624893:842,071...846,170
|
|
G |
Prrt3 |
proline rich transmembrane protein 3 |
|
ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
|
NCBI chrNW_004624731:4,544,664...4,552,890
Ensembl chrNW_004624731:4,544,936...4,548,677
|
|
G |
Ralgapa1 |
Ral GTPase activating protein catalytic subunit alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Infantile spasm |
ClinVar |
PMID:32004447 |
|
NCBI chrNW_004624838:1,040,108...1,269,000
Ensembl chrNW_004624838:1,040,525...1,258,151
|
|
G |
Rbfox1 |
RNA binding fox-1 homolog 1 |
|
ISO |
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624824:2,997,980...5,113,744
Ensembl chrNW_004624824:4,550,670...5,113,842
|
|
G |
Rpusd3 |
RNA pseudouridine synthase D3 |
|
ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
|
NCBI chrNW_004624731:4,463,848...4,467,541
Ensembl chrNW_004624731:4,463,980...4,467,491
|
|
G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Infantile spasm |
ClinVar |
PMID:18930999 PMID:19563458 PMID:20452746 PMID:22848613 PMID:25741868 PMID:28492532 More...
|
|
NCBI chrNW_004624787:3,767,405...3,939,065
Ensembl chrNW_004624787:3,768,120...3,908,889
|
|
G |
Scn1b |
sodium voltage-gated channel beta subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy |
ClinVar |
PMID:19710327 PMID:25741868 PMID:28218389 PMID:28492532 PMID:37845033 |
|
NCBI chrNW_004624794:8,439,609...8,449,731
Ensembl chrNW_004624794:8,439,600...8,450,179
|
|
G |
Scn8a |
sodium voltage-gated channel alpha subunit 8 |
|
ISO |
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004624816:498,737...631,850
Ensembl chrNW_004624816:499,179...631,936
|
|
G |
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 chrNW_004624731:5,194,852...5,217,821
Ensembl chrNW_004624731:5,194,961...5,217,821
|
|
G |
Slc13a5 |
solute carrier family 13 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 chrNW_004624786:7,321,622...7,357,270
Ensembl chrNW_004624786:7,322,188...7,357,220
|
|
G |
Slc6a1 |
solute carrier family 6 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:25741909 PMID:25865495 PMID:26467025 PMID:26716362 PMID:27541642 PMID:27824329 PMID:27959697 PMID:28135719 PMID:28191889 PMID:28213519 PMID:28492532 PMID:28708303 PMID:28856709 PMID:29315614 PMID:29358611 PMID:29933521 PMID:29961511 PMID:30132828 PMID:30525188 PMID:31031587 PMID:31302675 PMID:31332282 PMID:31401500 PMID:31780880 PMID:31785789 PMID:31981491 PMID:32005694 PMID:32398021 PMID:32469098 PMID:32581362 PMID:32660967 PMID:33004838 PMID:33241211 PMID:33961861 PMID:34006619 PMID:34028503 PMID:34120799 PMID:34489640 PMID:34653234 PMID:35701389 PMID:35761184 PMID:36674476 PMID:36895422 PMID:37502687 PMID:37647852 PMID:37700749 More...
|
|
NCBI chrNW_004624943:632,534...662,924
Ensembl chrNW_004624943:631,632...662,902
|
|
G |
Slc6a11 |
solute carrier family 6 member 11 |
|
ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
|
NCBI chrNW_004624943:694,447...803,993
Ensembl chrNW_004624943:692,513...804,023
|
|
G |
Srgap2 |
SLIT-ROBO Rho GTPase activating protein 2 |
|
ISO |
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624807:4,937,573...5,169,104
Ensembl chrNW_004624807:4,935,472...5,169,050
|
|
G |
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 chrNW_004624760:7,843,741...7,914,444
Ensembl chrNW_004624760:7,842,640...7,914,484
|
|
G |
Tada3 |
transcriptional adaptor 3 |
|
ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
|
NCBI chrNW_004624731:4,409,550...4,420,498
Ensembl chrNW_004624731:4,408,918...4,419,545
|
|
G |
Tatdn2 |
TatD DNase domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
|
NCBI chrNW_004624731:5,263,741...5,289,601
Ensembl chrNW_004624731:5,262,848...5,289,717
|
|
G |
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 chrNW_004624824:245,717...251,603
Ensembl chrNW_004624824:243,939...254,249
|
|
G |
Vhl |
von Hippel-Lindau tumor suppressor |
|
ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
|
NCBI chrNW_004624731:5,350,912...5,359,286
|
|
G |
Wdr45 |
WD repeat domain 45 |
|
ISO |
ClinVar Annotator: match by term: Early onset epileptic encephalopathy |
ClinVar |
PMID:26173968 |
|
NCBI chrNW_004624893:845,689...852,221
Ensembl chrNW_004624893:845,701...852,244
|
|
|
G |
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 chrNW_004624802:10,375,132...10,409,575
Ensembl chrNW_004624802:10,375,774...10,409,566
|
|
|
G |
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 chrNW_004624786:8,586,222...8,590,121
Ensembl chrNW_004624786:8,586,321...8,588,273
|
|
|
G |
Pomc |
proopiomelanocortin |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:1318289 |
|
NCBI chrNW_004624738:7,442,223...7,448,513
Ensembl chrNW_004624738:7,442,292...7,445,020
|
|
G |
Scnn1b |
sodium channel epithelial 1 subunit beta |
|
ISO |
ClinVar Annotator: match by term: Opsoclonus-myoclonus syndrome |
ClinVar |
|
|
NCBI chrNW_004624782:8,521,639...8,580,099
Ensembl chrNW_004624782:8,549,583...8,581,819
|
|
G |
Sdha |
succinate dehydrogenase complex flavoprotein subunit A |
|
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 chrNW_004624751:54,778...90,457
Ensembl chrNW_004624751:54,779...90,447
|
|
|
G |
Nhlrc1 |
NHL repeat containing E3 ubiquitin protein ligase 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 chrNW_004624756:8,558,470...8,560,610
|
|
|
G |
Abcg1 |
ATP binding cassette subfamily G member 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004624745:28,137,140...28,188,670
Ensembl chrNW_004624745:28,104,744...28,188,704
|
|
G |
Adarb1 |
adenosine deaminase RNA specific B1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004624745:30,549,195...30,635,081
Ensembl chrNW_004624745:30,549,257...30,635,269
|
|
G |
Afg3l2 |
AFG3 like matrix AAA peptidase subunit 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25401298 |
|
NCBI chrNW_004624770:19,590,829...19,631,663
Ensembl chrNW_004624770:19,591,215...19,631,722
|
|
G |
Agpat3 |
1-acylglycerol-3-phosphate O-acyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004624745:30,038,357...30,107,499
Ensembl chrNW_004624745:30,037,415...30,082,239
|
|
G |
Aire |
autoimmune regulator |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004624745:29,850,410...29,857,351
Ensembl chrNW_004624745:29,850,560...29,857,029
|
|
G |
Art3 |
ADP-ribosyltransferase 3 (inactive) |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
|
NCBI chrNW_004624757:14,844,582...14,996,412
Ensembl chrNW_004624757:14,845,616...14,942,748
|
|
G |
Atn1 |
atrophin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10814707 |
|
NCBI chrNW_004624860:3,564,741...3,577,889
Ensembl chrNW_004624860:3,571,254...3,577,400
|
|
G |
C2cd2 |
C2 calcium dependent domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004624745:28,346,470...28,393,529
Ensembl chrNW_004624745:28,346,570...28,389,961
|
|
G |
Cbs |
cystathionine beta-synthase |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004624745:27,676,430...27,687,573
Ensembl chrNW_004624745:27,673,748...27,688,462
|
|
G |
Ccdc158 |
coiled-coil domain containing 158 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
|
NCBI chrNW_004624757:14,548,889...14,642,186
Ensembl chrNW_004624757:14,564,535...14,625,979
|
|
G |
Cdkl2 |
cyclin dependent kinase like 2 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
|
NCBI chrNW_004624730:219,722...279,866
Ensembl chrNW_004624730:219,730...277,898
|
|
G |
Cers1 |
ceramide synthase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chrNW_004624908:1,937,007...1,949,780
Ensembl chrNW_004624908:1,941,393...1,949,760
|
|
G |
Cfap410 |
cilia and flagella associated protein 410 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004624745:29,810,748...29,823,395
Ensembl chrNW_004624745:29,816,662...29,822,326
|
|
G |
Chd2 |
chromodomain helicase DNA binding protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chrNW_004624768:10,786,139...10,922,558
Ensembl chrNW_004624768:10,785,815...10,922,790
|
|
G |
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 chrNW_004624782:12,995,277...13,004,980
Ensembl chrNW_004624782:12,995,277...13,005,087
|
|
G |
Cln5 |
CLN5 intracellular trafficking protein |
|
ISO |
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive | ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive |
ClinVar |
PMID:18414213 PMID:24767253 PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chrNW_004624751:23,395,284...23,404,798
Ensembl chrNW_004624751:23,396,789...23,404,906
|
|
G |
Cln6 |
CLN6 transmembrane ER protein |
|
ISO |
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624781:4,866,896...4,879,321
Ensembl chrNW_004624781:4,866,927...4,879,321
|
|
G |
Col18a1 |
collagen type XVIII alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004624745:30,754,654...30,792,352
Ensembl chrNW_004624745:30,754,820...30,791,426
|
|
G |
Col6a1 |
collagen type VI alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004624745:31,125,136...31,140,126
Ensembl chrNW_004624745:31,125,265...31,139,318
|
|
G |
Col6a2 |
collagen type VI alpha 2 chain |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004624745:31,246,458...31,272,403
Ensembl chrNW_004624745:31,258,825...31,272,524
|
|
G |
Cryaa |
crystallin alpha A |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004624745:27,636,932...27,639,814
Ensembl chrNW_004624745:27,637,267...27,639,371
|
|
G |
Cstb |
cystatin B |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:9012407 PMID:9054946 PMID:9342192 PMID:9360639 PMID:9536098 PMID:15329070 PMID:15483648 PMID:16155205 PMID:17003839 PMID:17576681 PMID:17920138 PMID:18028412 PMID:18925453 PMID:20078424 PMID:21757863 PMID:22936898 PMID:23091450 PMID:23205931 PMID:25741868 PMID:26467025 PMID:26843564 PMID:28492532 PMID:29358611 PMID:29915382 PMID:31440721 PMID:32581362 PMID:35478072 PMID:37541188 PMID:38247861 More...
|
|
NCBI chrNW_004624745:30,152,988...30,155,704
Ensembl chrNW_004624745:30,153,023...30,155,712
|
|
G |
CUNH21orf58 |
chromosome unknown C21orf58 homolog |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004624745:31,383,509...31,399,877
|
|
G |
Cxcl10 |
C-X-C motif chemokine ligand 10 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
|
NCBI chrNW_004624757:14,989,241...14,991,650
Ensembl chrNW_004624757:14,989,084...14,991,910
|
|
G |
Cxcl11 |
C-X-C motif chemokine ligand 11 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
|
NCBI chrNW_004624757:14,952,966...14,954,343
Ensembl chrNW_004624757:14,952,851...14,954,905
|
|
G |
Cxcl9 |
C-X-C motif chemokine ligand 9 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
|
NCBI chrNW_004624757:14,995,649...15,009,771
Ensembl chrNW_004624757:14,995,716...15,011,893
|
|
G |
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 chrNW_004624741:29,515,338...29,562,619
Ensembl chrNW_004624741:29,515,298...29,562,617
|
|
G |
Dnmt3l |
DNA methyltransferase 3 like |
|
ISO |
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004624745:29,869,174...29,878,189
Ensembl chrNW_004624745:29,869,196...29,878,169
|
|
G |
Epm2a |
EPM2A glucan phosphatase, laforin |
|
ISO |
ClinVar Annotator: match by term: Myoclonic epilepsy, progressive, X-linked | ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar Annotator: match by term: Myoclonic epilepsy, progressive, X-linked | ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:9536098 PMID:9771710 PMID:9931343 PMID:10932264 PMID:11175283 PMID:11735300 PMID:11739371 PMID:12019207 PMID:14532330 PMID:14706656 PMID:14722920 PMID:16021330 PMID:16134145 PMID:16199547 PMID:16311711 PMID:17010495 PMID:17389303 PMID:17509003 PMID:17576681 PMID:18029386 PMID:18311786 PMID:18414213 PMID:19403557 PMID:20738377 PMID:21623095 PMID:21652633 PMID:25246353 PMID:25544560 PMID:25741868 PMID:26467025 PMID:26493215 PMID:27574708 PMID:27843123 PMID:28492532 PMID:28800070 PMID:28934672 PMID:30041081 PMID:30947044 PMID:31227012 PMID:31493945 PMID:32342326 PMID:33773408 PMID:34117373 PMID:34568804 PMID:34755096 More...
|
|
NCBI chrNW_004624753:8,715,898...8,805,728
Ensembl chrNW_004624753:8,715,898...8,804,194
|
|
G |
Fbxl3 |
F-box and leucine rich repeat protein 3 |
|
ISO |
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:18414213 PMID:24767253 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004624751:23,374,622...23,391,535
Ensembl chrNW_004624751:23,374,702...23,398,727
|
|
G |
Ftcd |
formimidoyltransferase cyclodeaminase |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004624745:31,279,868...31,288,600
Ensembl chrNW_004624745:31,276,314...31,289,063
|
|
G |
G3bp2 |
G3BP stress granule assembly factor 2 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
|
NCBI chrNW_004624730:130,339...201,938
Ensembl chrNW_004624730:130,273...202,536
|
|
G |
Gatd3 |
glutamine amidotransferase class 1 domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004624745:29,934,703...29,942,789
Ensembl chrNW_004624745:29,934,703...29,942,771
|
|
G |
Gosr2 |
golgi SNAP receptor complex member 2 |
|
ISO |
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19057520 PMID:21549339 PMID:23449775 PMID:24458321 PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28982678 PMID:29855340 PMID:30363482 PMID:31440721 PMID:32032478 PMID:33639315 PMID:34167170 PMID:37895210 More...
|
|
NCBI chrNW_004624849:3,006,497...3,029,334
Ensembl chrNW_004624849:3,009,505...3,027,501
|
|
G |
Hsf2bp |
heat shock transcription factor 2 binding protein |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004624745:27,387,287...27,463,057
Ensembl chrNW_004624745:27,388,239...27,462,569
|
|
G |
Icoslg |
inducible T cell costimulator ligand |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004624745:29,880,943...29,888,635
Ensembl chrNW_004624745:29,880,992...29,888,717
|
|
G |
Itgb2 |
integrin subunit beta 2 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004624745:30,452,576...30,479,036
Ensembl chrNW_004624745:30,452,576...30,470,611
|
|
G |
Kcnc1 |
potassium voltage-gated channel subfamily C member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25401298 |
|
NCBI chrNW_004624766:9,360,038...9,400,106
Ensembl chrNW_004624766:9,359,511...9,400,106
|
|
G |
Kctd7 |
potassium channel tetramerization domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
|
|
NCBI chrNW_004624740:8,588,339...8,609,541
Ensembl chrNW_004624740:8,598,309...8,609,696
|
|
G |
Lmnb2 |
lamin B2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chrNW_004624828:5,630,328...5,648,231
Ensembl chrNW_004624828:5,633,191...5,648,240
|
|
G |
Lrrc3 |
leucine rich repeat containing 3 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004624745:29,749,317...29,751,477
Ensembl chrNW_004624745:29,750,232...29,751,005
|
|
G |
Lss |
lanosterol synthase |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004624745:31,301,648...31,325,283
Ensembl chrNW_004624745:31,306,807...31,325,199
|
|
G |
Mcm3ap |
minichromosome maintenance complex component 3 associated protein |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004624745:31,328,802...31,376,173
Ensembl chrNW_004624745:31,325,526...31,375,368
|
|
G |
Mfsd8 |
major facilitator superfamily domain containing 8 |
|
ISO |
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624777:8,831,246...8,877,881
Ensembl chrNW_004624777:8,827,851...8,877,873
|
|
G |
Naaa |
N-acylethanolamine acid amidase |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
|
NCBI chrNW_004624757:15,074,137...15,101,342
Ensembl chrNW_004624757:15,074,189...15,099,876
|
|
G |
Ndufv3 |
NADH:ubiquinone oxidoreductase subunit V3 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004624745:27,777,507...27,786,939
|
|
G |
Neu1 |
neuraminidase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25401298 |
|
NCBI chrNW_004624754:24,382,509...24,386,410
Ensembl chrNW_004624754:24,382,467...24,387,874
|
|
G |
Nhlrc1 |
NHL repeat containing E3 ubiquitin protein ligase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25401298 |
|
NCBI chrNW_004624756:8,558,470...8,560,610
|
|
G |
Nup54 |
nucleoporin 54 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
|
NCBI chrNW_004624757:14,800,780...14,840,115
|
|
G |
Odaph |
odontogenesis associated phosphoprotein |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
|
NCBI chrNW_004624730:292,466...298,311
|
|
G |
Optn |
optineurin |
|
ISO |
protein:increased expression:neuron, nucleus |
RGD |
PMID:22318854 |
RGD:6480499 |
NCBI chrNW_004624805:5,683,095...5,717,558
Ensembl chrNW_004624805:5,683,021...5,721,336
|
|
G |
Pcbp3 |
poly(rC) binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004624745:30,866,883...31,104,845
Ensembl chrNW_004624745:31,037,384...31,104,250
|
|
G |
Pcnt |
pericentrin |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004624745:31,402,791...31,516,522
Ensembl chrNW_004624745:31,403,014...31,515,751
|
|
G |
Pde9a |
phosphodiesterase 9A |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004624745:27,834,814...27,919,264
Ensembl chrNW_004624745:27,839,682...27,919,299
|
|
G |
Pfkl |
phosphofructokinase, liver type |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004624745:29,826,202...29,842,859
Ensembl chrNW_004624745:29,823,317...29,842,881
|
|
G |
Pknox1 |
PBX/knotted 1 homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004624745:27,696,257...27,754,162
Ensembl chrNW_004624745:27,696,185...27,754,138
|
|
G |
Pofut2 |
protein O-fucosyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004624745:30,648,423...30,658,862
Ensembl chrNW_004624745:30,644,681...30,658,909
|
|
G |
Ppef2 |
protein phosphatase with EF-hand domain 2 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
|
NCBI chrNW_004624872:4,726,169...4,805,021
Ensembl chrNW_004624872:4,726,647...4,747,516
|
|
G |
Ppt1 |
palmitoyl-protein thioesterase 1 |
|
ISO |
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive |
ClinVar |
PMID:9425237 PMID:9664077 PMID:9733046 PMID:10649502 PMID:10679943 PMID:11440996 PMID:11506414 PMID:17261688 PMID:19793312 PMID:20301601 PMID:21228398 PMID:21990111 PMID:23539563 PMID:23772246 PMID:24082928 PMID:25205113 PMID:25525159 PMID:25574475 PMID:25741868 PMID:26467025 PMID:28492532 More...
|
|
NCBI chrNW_004624764:22,542,892...22,577,077
Ensembl chrNW_004624764:22,543,857...22,577,121
|
|
G |
Prdm15 |
PR/SET domain 15 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004624745:28,401,163...28,440,597
Ensembl chrNW_004624745:28,396,485...28,441,450
|
|
G |
Prdm8 |
PR/SET domain 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chrNW_004624757:10,801,701...10,809,887
Ensembl chrNW_004624757:10,802,406...10,805,704
|
|
G |
Prickle1 |
prickle planar cell polarity protein 1 |
|
ISO |
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: PME ClinVar Annotator: match by term: PME | ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:18414213 PMID:20301774 PMID:21901791 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 More...
|
|
NCBI chrNW_004624816:10,087,866...10,185,004
Ensembl chrNW_004624816:10,164,666...10,184,994
|
|
G |
Prickle2 |
prickle planar cell polarity protein 2 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:21276947 PMID:23711981 PMID:25741868 PMID:26467025 PMID:26942291 PMID:26942292 PMID:28492532 PMID:29358611 More...
|
|
NCBI chrNW_004624888:1,537,080...1,825,955
Ensembl chrNW_004624888:1,537,138...1,821,215
|
|
G |
Prnp |
prion protein (Kanno blood group) |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25401298 |
|
NCBI chrNW_004624741:5,785,139...5,802,162
Ensembl chrNW_004624741:5,785,158...5,802,162
|
|
G |
Pttg1ip |
PTTG1 interacting protein |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004624745:30,427,967...30,441,170
Ensembl chrNW_004624745:30,429,268...30,441,095
|
|
G |
Pwp2 |
PWP2 small subunit processome component |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004624745:29,944,211...29,958,861
Ensembl chrNW_004624745:29,942,528...29,958,854
|
|
G |
Ripk4 |
receptor interacting serine/threonine kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004624745:28,461,948...28,481,721
Ensembl chrNW_004624745:28,461,900...28,481,813
|
|
G |
Rrp1 |
ribosomal RNA processing 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004624745:30,127,513...30,137,382
Ensembl chrNW_004624745:30,123,128...30,137,020
|
|
G |
Rrp1b |
ribosomal RNA processing 1B |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004624745:27,362,820...27,387,258
Ensembl chrNW_004624745:27,365,141...27,387,173
|
|
G |
Rsph1 |
radial spoke head component 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004624745:28,009,028...28,020,007
Ensembl chrNW_004624745:28,008,959...28,021,529
|
|
G |
Sacs |
sacsin molecular chaperone |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25401298 |
|
NCBI chrNW_004624776:14,290,186...14,395,303
Ensembl chrNW_004624776:14,290,198...14,460,046
|
|
G |
Scarb2 |
scavenger receptor class B member 2 |
|
ISO |
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar Annotator: match by term: Familial progressive myoclonic epilepsy | ClinVar Annotator: match by term: Progressive myoclonic epilepsy | ClinVar Annotator: match by term: Progressive myoclonus epilepsy ClinVar Annotator: match by term: Familial progressive myoclonic epilepsy | ClinVar Annotator: match by term: PME | ClinVar Annotator: match by term: Progressive myoclonic epilepsy | ClinVar Annotator: match by term: Progressive myoclonus epilepsy |
ClinVar |
PMID:9536098 PMID:15364701 PMID:16199547 PMID:17576681 PMID:18308289 PMID:19597094 PMID:19847901 PMID:19933215 PMID:21670406 PMID:22032306 PMID:22767442 PMID:23515316 PMID:23659519 PMID:24339182 PMID:24485911 PMID:24620919 PMID:25088547 PMID:25741868 PMID:26467025 PMID:26836416 PMID:28222800 PMID:28492532 PMID:29261713 PMID:29358611 PMID:34791078 PMID:35478072 More...
|
|
NCBI chrNW_004624757:14,709,120...14,795,039
Ensembl chrNW_004624757:14,709,120...14,795,243
|
|
G |
Sdad1 |
SDA1 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
|
NCBI chrNW_004624757:15,020,374...15,053,211
Ensembl chrNW_004624757:15,020,407...15,052,528
|
|
G |
Serpini1 |
serpin family I member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25401298 |
|
NCBI chrNW_004624730:45,698,714...45,791,744
Ensembl chrNW_004624730:45,739,911...45,795,570
|
|
G |
Shroom3 |
shroom family member 3 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
|
NCBI chrNW_004624757:14,187,911...14,524,999
Ensembl chrNW_004624757:14,187,756...14,394,834
|
|
G |
Sik1 |
salt inducible kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004624745:27,529,037...27,539,253
Ensembl chrNW_004624745:27,528,929...27,539,552
|
|
G |
Slc19a1 |
solute carrier family 19 member 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004624745:30,793,114...30,811,944
Ensembl chrNW_004624745:30,794,024...30,811,944
|
|
G |
Slc37a1 |
solute carrier family 37 member 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004624745:27,954,552...28,009,327
Ensembl chrNW_004624745:27,954,454...28,009,203
|
|
G |
Slx9 |
SLX9 ribosome biogenesis factor |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004624745:30,484,252...30,506,638
Ensembl chrNW_004624745:30,485,797...30,507,747
|
|
G |
Spatc1l |
spermatogenesis and centriole associated 1 like |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004624745:31,290,119...31,302,261
Ensembl chrNW_004624745:31,292,684...31,302,306
|
|
G |
Stbd1 |
starch binding domain 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
|
NCBI chrNW_004624757:14,629,607...14,634,274
Ensembl chrNW_004624757:14,631,455...14,634,147
|
|
G |
Sumo3 |
small ubiquitin like modifier 3 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004624745:30,384,762...30,393,454
Ensembl chrNW_004624745:30,385,940...30,393,326
|
|
G |
Tbc1d24 |
TBC1 domain family member 24 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25401298 |
|
NCBI chrNW_004624824:245,717...251,603
Ensembl chrNW_004624824:243,939...254,249
|
|
G |
Tmprss3 |
transmembrane serine protease 3 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004624745:28,064,414...28,087,319
Ensembl chrNW_004624745:28,064,539...28,083,566
|
|
G |
Tpp1 |
tripeptidyl peptidase 1 |
|
ISO |
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chrNW_004624817:8,104,934...8,111,049
Ensembl chrNW_004624817:8,104,939...8,111,035
|
|
G |
Trappc10 |
trafficking protein particle complex subunit 10 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004624745:29,959,237...30,031,074
Ensembl chrNW_004624745:29,961,054...30,031,113
|
|
G |
Trpm2 |
transient receptor potential cation channel subfamily M member 2 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004624745:29,757,267...29,809,607
Ensembl chrNW_004624745:29,757,106...29,806,795
|
|
G |
Tsc1 |
TSC complex subunit 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17484760 |
|
NCBI chrNW_004624760:3,479,028...3,536,612
Ensembl chrNW_004624760:3,498,692...3,532,011
|
|
G |
Tspear |
thrombospondin type laminin G domain and EAR repeats |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004624745:30,186,498...30,232,200
Ensembl chrNW_004624745:30,183,218...30,232,182
|
|
G |
U2af1 |
U2 small nuclear RNA auxiliary factor 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004624745:27,647,672...27,660,599
Ensembl chrNW_004624745:27,647,597...27,660,809
|
|
G |
Ubash3a |
ubiquitin associated and SH3 domain containing A |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004624745:28,026,274...28,057,922
|
|
G |
Ube2g2 |
ubiquitin conjugating enzyme E2 G2 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004624745:30,353,530...30,382,780
Ensembl chrNW_004624745:30,353,369...30,382,782
|
|
G |
Umodl1 |
uromodulin like 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004624745:28,236,121...28,282,696
Ensembl chrNW_004624745:28,238,299...28,282,699
|
|
G |
Uso1 |
USO1 vesicle transport factor |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:19847901 PMID:28492532 |
|
NCBI chrNW_004624730:27,313...130,086
Ensembl chrNW_004624730:28,175...130,012
|
|
G |
Wdr4 |
WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004624745:27,795,205...27,822,468
Ensembl chrNW_004624745:27,795,833...27,820,228
|
|
G |
Wnt9b |
Wnt family member 9B |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:21549339 PMID:28492532 |
|
NCBI chrNW_004624849:2,971,658...2,979,864
Ensembl chrNW_004624849:2,957,153...2,976,179
|
|
G |
Ybey |
ybeY metalloendoribonuclease |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004624745:31,376,060...31,396,319
Ensembl chrNW_004624745:31,376,747...31,382,011
|
|
G |
Zbtb21 |
zinc finger and BTB domain containing 21 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chrNW_004624745:28,304,795...28,329,497
Ensembl chrNW_004624745:28,313,042...28,329,497
|
|
|
G |
Antxr2 |
ANTXR cell adhesion molecule 2 |
|
ISO |
ClinVar Annotator: match by term: Early-onset Lafora body disease |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624757:10,972,976...11,123,103
Ensembl chrNW_004624757:10,972,692...11,125,898
|
|
G |
Prdm8 |
PR/SET domain 8 |
|
ISO |
ClinVar Annotator: match by term: Early-onset Lafora body disease | ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 10 |
OMIM ClinVar |
PMID:22961547 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004624757:10,801,701...10,809,887
Ensembl chrNW_004624757:10,802,406...10,805,704
|
|
|
G |
Sema6b |
semaphorin 6B |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 11 | ClinVar Annotator: match by term: SEMA6B-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:32169168 PMID:35604360 |
|
NCBI chrNW_004624828:5,170,745...5,193,568
Ensembl chrNW_004624828:5,182,812...5,192,486
|
|
|
G |
Prmt7 |
protein arginine methyltransferase 7 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 12 |
ClinVar |
PMID:25741868 PMID:33085104 |
|
NCBI chrNW_004624746:17,949,443...18,017,344
Ensembl chrNW_004624746:17,948,085...18,001,259
|
|
G |
Slc7a6os |
solute carrier family 7 member 6 opposite strand |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 12 |
OMIM ClinVar |
PMID:25741868 PMID:33085104 |
|
NCBI chrNW_004624746:18,001,309...18,009,307
Ensembl chrNW_004624746:18,001,346...18,008,013
|
|
|
G |
Cstb |
cystatin B |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004624745:30,152,988...30,155,704
Ensembl chrNW_004624745:30,153,023...30,155,712
|
|
|
G |
Prickle1 |
prickle planar cell polarity protein 1 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 1B | ClinVar Annotator: match by term: Progressive myoclonus epilepsy with ataxia |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:18414213 PMID:18976727 PMID:20301774 PMID:21276947 PMID:21901791 PMID:24689077 PMID:25741868 PMID:26378787 PMID:26467025 PMID:28106320 PMID:28492532 PMID:29358611 PMID:29790814 PMID:30564977 PMID:31035234 PMID:31875159 PMID:32214227 PMID:35040250 More...
|
|
NCBI chrNW_004624816:10,087,866...10,185,004
Ensembl chrNW_004624816:10,164,666...10,184,994
|
|
G |
Tbc1d24 |
TBC1 domain family member 24 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 1B |
ClinVar |
PMID:25401298 PMID:25741868 PMID:27281533 PMID:28492532 PMID:30335140 |
|
NCBI chrNW_004624824:245,717...251,603
Ensembl chrNW_004624824:243,939...254,249
|
|
|
G |
Cln3 |
CLN3 lysosomal/endosomal transmembrane protein, battenin |
|
ISO |
ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 14 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004624782:12,995,277...13,004,980
Ensembl chrNW_004624782:12,995,277...13,005,087
|
|
G |
Kctd7 |
potassium channel tetramerization domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 14 | ClinVar Annotator: match by term: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 14 | ClinVar Annotator: match by term: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS | ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 3, with intracellular inclusions |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17455289 PMID:17576681 PMID:18414213 PMID:22606975 PMID:22638565 PMID:22693283 PMID:22748208 PMID:25060828 PMID:25326635 PMID:25533962 PMID:25640679 PMID:25741868 PMID:25976102 PMID:26467025 PMID:26795593 PMID:27742667 PMID:28492532 PMID:29056246 PMID:29302074 PMID:29619247 PMID:29655203 PMID:30295347 PMID:30500434 PMID:30776697 PMID:30825425 PMID:30919572 PMID:31130284 PMID:31216804 PMID:31965297 PMID:32412666 PMID:32581362 PMID:34469883 PMID:34866617 PMID:35921411 PMID:36034301 PMID:37541188 PMID:38231304 More...
|
|
NCBI chrNW_004624740:8,588,339...8,609,541
Ensembl chrNW_004624740:8,598,309...8,609,696
|
|
|
G |
Kcnh8 |
potassium voltage-gated channel subfamily H member 8 |
|
ISO |
ClinVar Annotator: match by term: Action myoclonus-renal failure syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624821:4,475,305...4,831,444
Ensembl chrNW_004624821:4,475,250...4,832,194
|
|
G |
Rtel1 |
regulator of telomere elongation helicase 1 |
|
ISO |
ClinVar Annotator: match by term: Action myoclonus-renal failure syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624741:29,303,844...29,344,123
Ensembl chrNW_004624741:29,304,427...29,343,842
|
|
G |
Scarb2 |
scavenger receptor class B member 2 |
|
ISO |
ClinVar Annotator: match by term: Action myoclonus-renal failure syndrome | ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 4, with or without renal failure | ClinVar Annotator: match by term: SCARB2-related condition |
OMIM ClinVar |
PMID:9536098 PMID:15364701 PMID:16199547 PMID:17576681 PMID:18308289 PMID:18424452 PMID:19454373 PMID:19597094 PMID:19847901 PMID:19933215 PMID:21670406 PMID:21796727 PMID:22032306 PMID:22767442 PMID:23225201 PMID:23515316 PMID:23659519 PMID:24339182 PMID:24485911 PMID:24620919 PMID:25088547 PMID:25741868 PMID:26467025 PMID:26836416 PMID:28222800 PMID:28492532 PMID:29261713 PMID:29358611 PMID:34791078 PMID:35478072 More...
|
|
NCBI chrNW_004624757:14,709,120...14,795,039
Ensembl chrNW_004624757:14,709,120...14,795,243
|
|
|
G |
Fanci |
FA complementation group I |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 |
ClinVar |
PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:22237560 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25488682 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28130605 PMID:28492532 PMID:30451971 More...
|
|
NCBI chrNW_004624768:16,427,060...16,493,850
|
|
G |
Msh6 |
mutS homolog 6 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 |
ClinVar |
PMID:23621914 PMID:24033266 PMID:25142776 PMID:25326637 PMID:25741868 PMID:25980754 PMID:26689913 PMID:28492532 PMID:29684080 PMID:29945567 PMID:30267214 PMID:31159747 PMID:31332305 PMID:31391288 PMID:31422574 PMID:31921681 PMID:33471991 PMID:34445333 PMID:35980532 More...
|
|
NCBI chrNW_004624738:29,083,696...29,108,792
Ensembl chrNW_004624738:29,083,692...29,108,792
|
|
G |
Polg |
DNA polymerase gamma, catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 5 |
ClinVar |
PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 PMID:11555352 PMID:11571332 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:12975295 PMID:14557557 PMID:14635118 PMID:14694057 PMID:14745080 PMID:15122711 PMID:15181170 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15689359 PMID:15824347 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16080118 PMID:16130100 PMID:16177225 PMID:16199547 PMID:16368709 PMID:16401742 PMID:16545482 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16639411 PMID:16896309 PMID:16919951 PMID:16940310 PMID:17088268 PMID:17418573 PMID:17426723 PMID:17436221 PMID:17438011 PMID:17452231 PMID:17502560 PMID:17538929 PMID:17846414 PMID:17894835 PMID:17950645 PMID:17980715 PMID:18156159 PMID:18195149 PMID:18195151 PMID:18294203 PMID:18321754 PMID:18414213 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18716558 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19125351 PMID:19189930 PMID:19195941 PMID:19251978 PMID:19307547 PMID:19344718 PMID:19364868 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19629138 PMID:19752458 PMID:19762913 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19862739 PMID:19887119 PMID:20138553 PMID:20142534 PMID:20153822 PMID:20176107 PMID:20185557 PMID:20220442 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20434700 PMID:20438629 PMID:20513108 PMID:20513922 PMID:20576279 PMID:20601675 PMID:20691285 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20837862 PMID:20843780 PMID:20883824 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21236670 PMID:21259344 PMID:21276947 PMID:21282586 PMID:21305355 PMID:21357833 PMID:21455106 PMID:21484424 PMID:21515089 PMID:21550804 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21953457 PMID:21956653 PMID:21993618 PMID:22000311 PMID:22006280 PMID:22084276 PMID:22166854 PMID:22189570 PMID:22237560 PMID:22342071 PMID:22494076 PMID:22537151 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22863191 PMID:22931735 PMID:22987704 PMID:22995991 PMID:23084792 PMID:23208208 PMID:23212759 PMID:23248042 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID:23419467 PMID:23426270 PMID:23430834 PMID:23446635 PMID:23446645 PMID:23448099 PMID:23524600 PMID:23665194 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23811324 PMID:23921535 PMID:24033266 PMID:24091540 PMID:24122062 PMID:24259288 PMID:24265579 PMID:24272679 PMID:24288107 PMID:24331360 PMID:24508722 PMID:24642831 PMID:24725338 PMID:25025039 PMID:25118206 PMID:25193669 PMID:25286830 PMID:25356970 PMID:25462018 PMID:25488682 PMID:25497598 PMID:25585994 PMID:25660390 PMID:25713120 PMID:25741868 PMID:25742477 PMID:25850945 PMID:25852747 PMID:25940035 PMID:26077851 PMID:26095671 PMID:26104464 PMID:26169155 PMID:26224072 PMID:26337858 PMID:26357557 PMID:26467025 PMID:26468652 PMID:26557169 PMID:26607151 PMID:26735972 PMID:26742794 PMID:26755490 PMID:26942291 PMID:26942292 PMID:27016405 PMID:27111573 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27290639 PMID:27422324 PMID:27450679 PMID:27538604 PMID:27538665 PMID:27822509 PMID:27838477 PMID:27917773 PMID:27987238 PMID:28128857 PMID:28130605 PMID:28154168 PMID:28206745 PMID:28337550 PMID:28444220 PMID:28471437 PMID:28480171 PMID:28492532 PMID:28634151 PMID:28756246 PMID:28771251 PMID:28776642 PMID:28812649 PMID:28837072 PMID:28865037 PMID:28958595 PMID:29029963 PMID:29214156 PMID:29272804 PMID:29302508 PMID:29341116 PMID:29358615 PMID:29423831 PMID:29431110 PMID:29474836 PMID:29482223 PMID:29574624 PMID:29588995 PMID:29655203 PMID:29712893 PMID:29913018 PMID:29920680 PMID:29992832 PMID:29997391 PMID:30021052 PMID:30167885 PMID:30255931 PMID:30290626 PMID:30306720 PMID:30369941 PMID:30373890 PMID:30404819 PMID:30423451 PMID:30451971 PMID:30487145 PMID:30637288 PMID:30818899 PMID:30843307 PMID:30860128 PMID:30936349 PMID:30941926 PMID:30951992 PMID:31085725 PMID:31164858 PMID:31475037 PMID:31521625 PMID:31571979 PMID:31589614 PMID:31645654 PMID:31655921 PMID:31658717 PMID:31665838 PMID:31669236 PMID:31980526 PMID:31996268 PMID:32019516 PMID:32042919 PMID:32165824 PMID:32234506 PMID:32305867 PMID:32348839 PMID:32391929 PMID:32445240 PMID:32502631 PMID:32567010 PMID:32613234 PMID:32964447 PMID:33233646 PMID:33396418 PMID:33434755 PMID:33469851 PMID:33473333 PMID:33486010 PMID:33513296 PMID:33579567 PMID:33600046 PMID:33683010 PMID:33726816 PMID:33791913 PMID:33956154 PMID:34008892 PMID:34052969 PMID:34062649 PMID:34194468 PMID:34288125 PMID:34426522 PMID:34670123 PMID:34690748 PMID:34782754 PMID:34927673 PMID:35114397 PMID:35186329 PMID:35307828 PMID:35350396 PMID:35598585 PMID:35699875 PMID:35799515 PMID:35861376 PMID:36325100 PMID:36332611 PMID:36703223 PMID:36987741 PMID:37091313 PMID:37184518 PMID:37189790 PMID:38772265 PMID:38845467 More...
|
|
NCBI chrNW_004624768:16,493,123...16,509,747
Ensembl chrNW_004624768:16,491,555...16,509,900
|
|
G |
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 chrNW_004624888:1,537,080...1,825,955
Ensembl chrNW_004624888:1,537,138...1,821,215
|
|
G |
Twnk |
twinkle mtDNA helicase |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 |
ClinVar |
PMID:21689831 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004624831:592,475...597,388
|
|
|
G |
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 chrNW_004624849:3,006,497...3,029,334
Ensembl chrNW_004624849:3,009,505...3,027,501
|
|
G |
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 chrNW_004624794:172,543...189,031
Ensembl chrNW_004624794:172,707...185,073
|
|
|
G |
Csrp3 |
cysteine and glycine rich protein 3 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624766:10,611,798...10,631,567
Ensembl chrNW_004624766:10,611,804...10,631,490
|
|
G |
Gtf2h1 |
general transcription factor IIH subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624766:9,807,973...9,848,167
Ensembl chrNW_004624766:9,808,170...9,848,173
|
|
G |
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 chrNW_004624766:9,766,848...9,807,927
Ensembl chrNW_004624766:9,769,079...9,803,867
|
|
G |
Igsf22 |
immunoglobulin superfamily member 22 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624766:10,126,121...10,147,727
|
|
G |
Kcnc1 |
potassium voltage-gated channel subfamily C 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 chrNW_004624766:9,360,038...9,400,106
Ensembl chrNW_004624766:9,359,511...9,400,106
|
|
G |
LOC101715932 |
L-lactate dehydrogenase C chain |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624766:9,882,494...9,943,079
Ensembl chrNW_004624766:9,886,618...9,921,535
|
|
G |
Myod1 |
myogenic differentiation 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624766:9,345,390...9,347,985
Ensembl chrNW_004624766:9,345,613...9,347,326
|
|
G |
Otog |
otogelin |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624766:9,156,036...9,234,200
Ensembl chrNW_004624766:9,156,158...9,232,484
|
|
G |
Ptpn5 |
protein tyrosine phosphatase non-receptor type 5 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624766:10,147,859...10,204,657
Ensembl chrNW_004624766:10,147,840...10,204,238
|
|
G |
Saal1 |
serum amyloid A like 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624766:9,688,139...9,712,592
Ensembl chrNW_004624766:9,687,371...9,713,121
|
|
G |
Sergef |
secretion regulating guanine nucleotide exchange factor |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624766:9,399,166...9,624,591
Ensembl chrNW_004624766:9,399,174...9,624,590
|
|
G |
Spty2d1 |
SPT2 chromatin protein domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624766:10,039,232...10,061,908
|
|
G |
Tmem86a |
transmembrane protein 86A |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624766:10,119,453...10,124,403
Ensembl chrNW_004624766:10,120,479...10,123,228
|
|
G |
Tph1 |
tryptophan hydroxylase 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624766:9,629,951...9,687,772
Ensembl chrNW_004624766:9,629,849...9,668,393
|
|
G |
Tsg101 |
tumor susceptibility 101 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624766:9,932,190...9,977,725
Ensembl chrNW_004624766:9,934,228...9,977,697
|
|
G |
Uevld |
UEV and lactate/malate dehyrogenase domains |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624766:9,980,103...10,020,786
Ensembl chrNW_004624766:9,981,347...10,021,665
|
|
G |
Ush1c |
USH1 protein network component harmonin |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624766:9,097,466...9,153,602
Ensembl chrNW_004624766:9,105,990...9,153,663
|
|
G |
Zdhhc13 |
zinc finger DHHC-type palmitoyltransferase 13 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624766:10,556,715...10,608,070
Ensembl chrNW_004624766:10,556,645...10,608,083
|
|
|
G |
Armc6 |
armadillo repeat containing 6 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624908:2,013,548...2,030,219
Ensembl chrNW_004624908:2,013,707...2,030,219
|
|
G |
Borcs8 |
BLOC-1 related complex subunit 8 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624908:2,082,745...2,089,666
Ensembl chrNW_004624908:2,081,229...2,089,913
|
|
G |
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 chrNW_004624908:1,937,007...1,949,780
Ensembl chrNW_004624908:1,941,393...1,949,760
|
|
G |
Comp |
cartilage oligomeric matrix protein |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624908:1,870,975...1,877,434
Ensembl chrNW_004624908:1,871,002...1,877,369
|
|
G |
Cope |
COPI coat complex subunit epsilon |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624908:1,951,845...1,963,474
Ensembl chrNW_004624908:1,951,403...1,963,459
|
|
G |
Ddx49 |
DEAD-box helicase 49 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624908:1,963,701...1,970,634
Ensembl chrNW_004624908:1,963,738...1,970,634
|
|
G |
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 chrNW_004624908:1,935,525...1,937,012
Ensembl chrNW_004624908:1,935,539...1,936,953
|
|
G |
Homer3 |
homer scaffold protein 3 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624908:1,970,739...1,977,750
Ensembl chrNW_004624908:1,971,064...1,976,152
|
|
G |
Nr2c2ap |
nuclear receptor 2C2 associated protein |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624908:2,094,783...2,097,088
|
|
G |
Rfxank |
regulatory factor X associated ankyrin containing protein |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624908:2,090,127...2,095,446
Ensembl chrNW_004624908:2,090,278...2,095,446
|
|
G |
Slc25a42 |
solute carrier family 25 member 42 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624908:2,033,770...2,056,590
Ensembl chrNW_004624908:2,033,908...2,056,590
|
|
G |
Sugp2 |
SURP and G-patch domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624908:1,991,529...2,013,694
Ensembl chrNW_004624908:1,990,622...2,012,965
|
|
G |
Tmem161a |
transmembrane protein 161A |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624908:2,056,642...2,064,137
Ensembl chrNW_004624908:2,056,885...2,061,872
|
|
G |
Upf1 |
UPF1 RNA helicase and ATPase |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624908:1,909,995...1,935,370
Ensembl chrNW_004624908:1,910,315...1,933,655
|
|
|
G |
Abhd17a |
abhydrolase domain containing 17A, depalmitoylase |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624828:6,915,126...6,923,433
Ensembl chrNW_004624828:6,917,061...6,923,433
|
|
G |
Adamtsl5 |
ADAMTS like 5 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624828:7,192,160...7,201,832
Ensembl chrNW_004624828:7,192,191...7,199,035
|
|
G |
Amh |
anti-Mullerian hormone |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624828:6,635,192...6,638,104
Ensembl chrNW_004624828:6,631,420...6,637,732
|
|
G |
Ap3d1 |
adaptor related protein complex 3 subunit delta 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624828:6,710,081...6,750,315
Ensembl chrNW_004624828:6,710,025...6,749,434
|
|
G |
Apc2 |
APC regulator of WNT signaling pathway 2 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624828:7,220,768...7,247,395
Ensembl chrNW_004624828:7,223,251...7,247,421
|
|
G |
Atp8b3 |
ATPase phospholipid transporting 8B3 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624828:6,976,451...6,994,152
Ensembl chrNW_004624828:6,976,466...6,994,267
|
|
G |
Btbd2 |
BTB domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624828:6,815,966...6,828,233
|
|
G |
Csnk1g2 |
casein kinase 1 gamma 2 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624828:6,832,157...6,859,244
Ensembl chrNW_004624828:6,833,114...6,839,914
|
|
G |
CUNH19orf25 |
chromosome unknown C19orf25 homolog |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624828:7,217,567...7,220,839
Ensembl chrNW_004624828:7,217,890...7,219,253
|
|
G |
Diras1 |
DIRAS family GTPase 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624828:5,808,355...5,816,865
Ensembl chrNW_004624828:5,809,660...5,816,819
|
|
G |
Dot1l |
DOT1 like histone lysine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624828:6,648,403...6,697,617
Ensembl chrNW_004624828:6,650,762...6,697,879
|
|
G |
Gadd45b |
growth arrest and DNA damage inducible beta |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624828:5,663,604...5,665,666
Ensembl chrNW_004624828:5,663,485...5,665,666
|
|
G |
Gna11 |
G protein subunit alpha 11 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624828:6,078,485...6,093,744
Ensembl chrNW_004624828:6,077,851...6,093,750
|
|
G |
Gng7 |
G protein subunit gamma 7 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624828:5,683,248...5,803,088
Ensembl chrNW_004624828:5,685,915...5,690,729
|
|
G |
Izumo4 |
IZUMO family member 4 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624828:6,751,736...6,754,746
Ensembl chrNW_004624828:6,751,884...6,754,688
|
|
G |
Klf16 |
KLF transcription factor 16 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624828:6,933,480...6,944,238
Ensembl chrNW_004624828:6,933,630...6,942,347
|
|
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 chrNW_004624828:6,592,941...6,609,698
Ensembl chrNW_004624828:6,592,957...6,609,665
|
|
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 chrNW_004624828:5,630,328...5,648,231
Ensembl chrNW_004624828:5,633,191...5,648,240
|
|
G |
LOC101726493 |
cytochrome b-c1 complex subunit 10 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624828:7,123,371...7,127,341
Ensembl chrNW_004624828:7,123,392...7,127,337
|
|
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 chrNW_004624828:6,576,672...6,584,303
Ensembl chrNW_004624828:6,576,708...6,584,303
|
|
G |
Mbd3 |
methyl-CpG binding domain protein 3 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624828:7,132,228...7,144,599
Ensembl chrNW_004624828:7,132,274...7,144,964
|
|
G |
Mex3d |
mex-3 RNA binding family member D |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624828:7,149,766...7,157,689
Ensembl chrNW_004624828:7,146,823...7,157,745
|
|
G |
Mknk2 |
MAPK interacting serine/threonine kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624828:6,788,069...6,801,370
|
|
G |
Mob3a |
MOB kinase activator 3A |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624828:6,755,018...6,771,614
Ensembl chrNW_004624828:6,755,059...6,771,961
|
|
G |
Oaz1 |
ornithine decarboxylase antizyme 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624828:6,617,342...6,620,466
Ensembl chrNW_004624828:6,617,727...6,620,402
|
|
G |
Onecut3 |
one cut homeobox 3 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624828:6,998,099...7,016,844
Ensembl chrNW_004624828:6,999,453...7,016,844
|
|
G |
Pcsk4 |
proprotein convertase subtilisin/kexin type 4 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624828:7,208,995...7,216,188
|
|
G |
Peak3 |
PEAK family member 3 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624828:6,612,201...6,615,888
|
|
G |
Plekhj1 |
pleckstrin homology domain containing J1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624828:6,645,967...6,648,137
Ensembl chrNW_004624828:6,646,034...6,648,137
|
|
G |
Plk5 |
polo like kinase 5 (inactive) |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624828:7,172,286...7,181,564
|
|
G |
Reep6 |
receptor accessory protein 6 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624828:7,202,911...7,208,169
Ensembl chrNW_004624828:7,202,984...7,208,408
|
|
G |
Rexo1 |
RNA exonuclease 1 homolog |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624828:6,948,422...6,973,588
Ensembl chrNW_004624828:6,948,568...6,972,936
|
|
G |
Sf3a2 |
splicing factor 3a subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624828:6,638,546...6,646,529
Ensembl chrNW_004624828:6,638,660...6,644,788
|
|
G |
Sgta |
small glutamine rich tetratricopeptide repeat co-chaperone alpha |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624828:5,832,274...5,854,472
Ensembl chrNW_004624828:5,834,586...5,843,528
|
|
G |
Slc39a3 |
solute carrier family 39 member 3 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624828:5,819,220...5,827,875
Ensembl chrNW_004624828:5,820,306...5,827,846
|
|
G |
Sppl2b |
signal peptide peptidase like 2B |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624828:6,564,127...6,576,663
Ensembl chrNW_004624828:6,562,426...6,576,609
|
|
G |
Tcf3 |
transcription factor 3 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624828:7,090,562...7,119,970
Ensembl chrNW_004624828:7,090,605...7,121,428
|
|
G |
Thop1 |
thimet oligopeptidase 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624828:5,857,667...5,873,055
Ensembl chrNW_004624828:5,857,846...5,873,462
|
|
G |
Timm13 |
translocase of inner mitochondrial membrane 13 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624828:6,529,710...6,530,910
Ensembl chrNW_004624828:6,529,727...6,530,916
|
|
G |
Tle2 |
TLE family member 2, transcriptional corepressor |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624828:6,131,418...6,149,388
Ensembl chrNW_004624828:6,131,452...6,149,377
|
|
G |
Tle5 |
TLE family member 5, transcriptional modulator |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624828:6,113,037...6,121,951
Ensembl chrNW_004624828:6,113,044...6,121,720
|
|
G |
Tle6 |
TLE family member 6, subcortical maternal complex member |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624828:6,149,869...6,157,875
|
|
G |
Tmprss9 |
transmembrane serine protease 9 |
|
ISO |
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624828:6,530,911...6,560,640
Ensembl chrNW_004624828:6,531,482...6,548,605
|
|
|
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 chrNW_004624769:21,112,705...21,140,004
Ensembl chrNW_004624769:21,112,851...21,138,831
|
|
|
G |
Cstb |
cystatin B |
|
ISO |
ClinVar Annotator: match by term: Unverricht-Lundborg syndrome |
OMIM ClinVar |
PMID:8596935 PMID:9012407 PMID:9054946 PMID:9342192 PMID:9360639 PMID:11814737 PMID:15329070 PMID:15483648 PMID:16155205 PMID:17003839 PMID:17920138 PMID:18028412 PMID:18925453 PMID:20078424 PMID:21757863 PMID:22154554 PMID:22936898 PMID:23205931 PMID:25741868 PMID:26467025 PMID:26843564 PMID:28492532 PMID:29358611 PMID:29915382 PMID:31440721 PMID:32581362 PMID:35478072 PMID:37541188 PMID:38247861 More...
|
|
NCBI chrNW_004624745:30,152,988...30,155,704
Ensembl chrNW_004624745:30,153,023...30,155,712
|
|