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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Generalized Epilepsy
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Accession:DOID:9001793 term browser browse the term
Definition:Recurrent conditions characterized by epileptic seizures which arise diffusely and simultaneously from both hemispheres of the brain. Classification is generally based upon motor manifestations of the seizure (e.g., convulsive, nonconvulsive, akinetic, atonic, etc.) or etiology (e.g., idiopathic, cryptogenic, and symptomatic). (From Mayo Clin Proc, 1996 Apr;71(4):405-14)
Synonyms:exact_synonym: Akinetic Epilepsy;   Atonic Epilepsies;   Atonic Epilepsy;   Convulsive Generalized Seizure Disorder;   EPILEPTIC ENCEPHALOPATHY;   Generalized Convulsive Epilepsies;   Generalized Convulsive Epilepsy;   Generalized Epilepsies;   Generalized Nonconvulsive Epilepsy;   Generalized Nonconvulsive Seizure Disorder;   Generalized Onset Seizure Disorder;   Generalized Seizure Disorder;   Generalized Seizure Disorders;   Symptomatic Generalized Epilepsy;   Tonic Epilepsies;   akinetic epilepsies;   tonic epilepsy
 primary_id: MESH:D004829
 alt_id: RDO:0005510
For additional species annotation, visit the Alliance of Genome Resources.


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Generalized Epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar NCBI chr  X:115,561,329...115,589,792
Ensembl chr  X:115,561,332...115,619,505
JBrowse link
G Anks6 ankyrin repeat and sterile alpha motif domain containing 6 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 5:62,642,974...62,684,387
Ensembl chr 5:62,640,645...62,683,964
JBrowse link
G Anp32b acidic nuclear phosphoprotein 32 family member B ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 5:62,070,709...62,094,633
Ensembl chr 5:62,071,346...62,094,633
JBrowse link
G Ap3b2 adaptor related protein complex 3 subunit beta 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:18414213 PMID:27889060 NCBI chr 1:143,284,041...143,315,846
Ensembl chr 1:143,283,996...143,315,633
JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:16538223 PMID:22117059 PMID:25741868 PMID:28492532 NCBI chr13:90,651,682...90,676,629
Ensembl chr13:90,651,686...90,676,629
JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:32581362 NCBI chr 1:81,852,423...81,881,565
Ensembl chr 1:81,852,429...81,881,549
JBrowse link
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:2679931 PMID:9671269 PMID:10790207 PMID:11243728 PMID:12885331 PMID:15811015 PMID:16207219 PMID:16684691 PMID:16791614 PMID:18414213 PMID:20517649 PMID:21610751 PMID:22484412 PMID:22677543 PMID:22692182 PMID:23518715 PMID:23551039 PMID:23789284 PMID:24517292 PMID:25390358 PMID:25741868 PMID:25825851 PMID:26764160 PMID:26799313 PMID:28492532 PMID:30097039 PMID:30232804 PMID:32043565 PMID:32154060 NCBI chr16:74,865,516...74,944,935
Ensembl chr16:74,865,516...74,945,286
JBrowse link
G Aven apoptosis and caspase activation inhibitor ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25262651 PMID:28492532 NCBI chr 3:103,980,612...104,117,193
Ensembl chr 3:104,042,168...104,117,192
JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO RGD PMID:11342703 RGD:734669 NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
JBrowse link
G Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar NCBI chr 8:116,154,661...116,285,643
Ensembl chr 8:116,154,736...116,284,985
JBrowse link
G Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10762541, PMID:10762541 RGD:734674 NCBI chr 3:37,950,846...38,211,478
Ensembl chr 3:37,955,069...38,090,526
JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:18414213 PMID:20397747 PMID:25741868 PMID:28492532 NCBI chr  X:35,536,396...35,773,204
Ensembl chr  X:35,599,258...35,771,711
JBrowse link
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:19136953 NCBI chr 1:123,897,341...124,039,263
Ensembl chr 1:123,899,657...124,039,196
JBrowse link
G Coro2a coronin 2A ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 5:62,154,526...62,210,797
Ensembl chr 5:62,156,839...62,187,930
JBrowse link
G Fasn fatty acid synthase ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:21937992 PMID:25741868 PMID:28492532 NCBI chr10:109,987,735...110,005,901
Ensembl chr10:109,987,735...110,005,901
JBrowse link
G Folr1 folate receptor alpha ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar NCBI chr 1:166,934,457...166,945,864
Ensembl chr 1:166,934,460...166,943,592
JBrowse link
G Foxe1 forkhead box E1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 5:61,954,549...61,957,357
Ensembl chr 5:61,954,549...61,957,357
JBrowse link
G Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 PMID:26740508 PMID:27541642 PMID:28492532 PMID:28856709 PMID:29100083 NCBI chr 5:62,276,100...62,621,737
Ensembl chr 5:62,276,100...62,621,737
JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 PMID:32581362 NCBI chr 1:113,034,251...113,265,364
Ensembl chr 1:112,976,770...113,265,364
JBrowse link
G Gabrd gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:172,797,478...172,809,374
Ensembl chr 5:172,797,450...172,809,353
JBrowse link
G Gnao1 G protein subunit alpha o1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 PMID:26485252 PMID:28357411 PMID:28492532 PMID:28747448 PMID:28817111 PMID:32581362 NCBI chr19:11,513,201...11,669,578
Ensembl chr19:11,513,201...11,669,578
JBrowse link
G Gria3 glutamate ionotropic receptor AMPA type subunit 3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 PMID:32581362 NCBI chr  X:127,561,843...127,829,763
Ensembl chr  X:127,562,660...127,829,753
JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990
JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 NCBI chr 4:169,541,620...170,000,216
Ensembl chr 4:169,560,387...169,999,873
JBrowse link
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 PMID:30351409 NCBI chr 2:50,099,576...50,499,799
Ensembl chr 2:50,099,576...50,499,799
JBrowse link
G Hemgn hemogen ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 5:62,004,271...62,025,075
Ensembl chr 5:62,005,071...62,025,152
JBrowse link
G Hnrnpu heterogeneous nuclear ribonucleoprotein U ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25326635 PMID:25741868 PMID:28815871 NCBI chr13:96,222,093...96,238,845
Ensembl chr13:96,225,912...96,238,572
JBrowse link
G Idua alpha-L-iduronidase ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar NCBI chr14:2,041,828...2,056,762
Ensembl chr14:2,042,411...2,056,762
JBrowse link
G Jrk Jrk helix-turn-helix protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11463517 NCBI chr 7:115,941,788...115,946,471
Ensembl chr 7:115,942,743...115,946,425
JBrowse link
G Kcnb1 potassium voltage-gated channel subfamily B member 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25164438 PMID:25741868 PMID:26477325 PMID:28492532 PMID:28806457 PMID:29264397 PMID:32581362 NCBI chr 3:163,850,785...163,935,610
Ensembl chr 3:163,850,785...163,935,617
JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:23621294 PMID:23934111 PMID:25052858 PMID:25262651 PMID:25326635 PMID:25741868 PMID:25880994 PMID:25959266 PMID:27864847 PMID:28133863 PMID:28492532 PMID:28973083 PMID:29186148 PMID:32581362 NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:3,310,641...3,366,558
Ensembl chr 3:3,310,954...3,365,340
JBrowse link
G Kctd7 potassium channel tetramerization domain containing 7 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 PMID:30295347 PMID:32581362 NCBI chr12:30,024,080...30,033,357
Ensembl chr12:30,024,081...30,033,357
JBrowse link
G Mapk10 mitogen activated protein kinase 10 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar NCBI chr14:8,079,955...8,371,508
Ensembl chr14:8,080,275...8,368,254
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 NCBI chr  X:156,650,389...156,713,813
Ensembl chr  X:156,655,960...156,705,233
JBrowse link
G Mef2c myocyte enhancer factor 2C ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:32581362 NCBI chr 2:11,658,534...11,822,788
Ensembl chr 2:11,658,568...11,822,787
JBrowse link
G Mtrfr mitochondrial translation release factor in rescue ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:20598281 PMID:25326635 PMID:25741868 PMID:26539891 PMID:32581362 NCBI chr12:37,680,152...37,682,994
Ensembl chr12:37,677,019...37,699,616
JBrowse link
G Nans N-acetylneuraminate synthase ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 5:62,109,352...62,126,492
Ensembl chr 5:62,109,328...62,126,494
JBrowse link
G Ncbp1 nuclear cap binding protein subunit 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 5:61,734,118...61,767,098
Ensembl chr 5:61,734,118...61,766,481
JBrowse link
G Otud7a OTU deubiquitinase 7A ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:31997314 NCBI chr 1:124,311,873...124,655,437
Ensembl chr 1:124,625,985...124,653,820
JBrowse link
G Pgk1 phosphoglycerate kinase 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 NCBI chr  X:77,263,399...77,279,373
Ensembl chr  X:77,263,359...77,279,367
JBrowse link
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 1:100,853,475...100,859,202
Ensembl chr 1:100,853,902...100,859,084
JBrowse link
G Pura purine rich element binding protein A ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 PMID:32581362 NCBI chr18:29,104,712...29,114,918
Ensembl chr18:29,110,242...29,111,156
JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:35,749,957...35,777,243
Ensembl chr  X:35,749,957...35,777,243
JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25262651 PMID:25741868 PMID:28492532 PMID:29498452 NCBI chr 3:104,117,307...104,665,151
Ensembl chr 3:104,118,063...104,504,204
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Generalized epilepsy
ClinVar Annotator: match by term: Epileptic encephalopathy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11359211 PMID:14504318 PMID:17054684 PMID:17347258 PMID:18930999 PMID:21480876 PMID:21719429 PMID:25741868 PMID:26096185 PMID:26993267 PMID:28492532 PMID:32581362 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:18414213 PMID:20956790 PMID:23550958 PMID:23708187 PMID:25326635 PMID:25741868 PMID:26291284 PMID:26645390 PMID:26993267 PMID:27159988 PMID:28065826 PMID:28379373 PMID:28492532 PMID:29844171 PMID:32860008 NCBI chr 3:51,687,910...51,822,008
Ensembl chr 3:51,687,809...51,822,250
JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:24888894 PMID:25568300 PMID:25741868 PMID:25951352 PMID:26029160 PMID:26900580 PMID:27864847 PMID:28492532 PMID:28923014 PMID:30171078 PMID:30615093 NCBI chr 7:142,575,629...142,683,659
Ensembl chr 7:142,575,672...142,684,114
JBrowse link
G Slc13a5 solute carrier family 13 member 5 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:32581362 NCBI chr10:58,806,581...58,835,549
Ensembl chr10:58,810,058...58,834,538
JBrowse link
G Slc26a1 solute carrier family 26 member 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar NCBI chr14:2,050,805...2,056,091
Ensembl chr14:2,050,483...2,056,089
JBrowse link
G Slc35a2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar NCBI chr  X:15,453,184...15,461,990
Ensembl chr  X:15,453,186...15,461,713
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:20887364 PMID:21762454 PMID:23934111 PMID:24033266 PMID:25741868 PMID:26648591 PMID:26865513 PMID:26918652 PMID:27171548 PMID:28387369 PMID:28492532 PMID:28947817 PMID:32581362 NCBI chr 3:11,823,779...11,885,479
Ensembl chr 3:11,823,785...11,885,417
JBrowse link
G Syngap1 synaptic Ras GTPase activating protein 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 NCBI chr20:5,535,434...5,564,657
Ensembl chr20:5,535,432...5,564,437
JBrowse link
G Tbc1d2 TBC1 domain family, member 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 5:62,213,001...62,261,467
Ensembl chr 5:62,212,982...62,260,105
JBrowse link
G Tdrd7 tudor domain containing 7 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 5:61,557,909...61,631,719
Ensembl chr 5:61,564,864...61,631,710
JBrowse link
G Tmod1 tropomodulin 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 5:61,635,244...61,712,052
Ensembl chr 5:61,657,507...61,712,051
JBrowse link
G Trim14 tripartite motif-containing 14 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 5:62,128,941...62,154,424
Ensembl chr 5:62,128,941...62,153,786
JBrowse link
G Trit1 tRNA isopentenyltransferase 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 NCBI chr 5:140,711,943...140,756,893
Ensembl chr 5:140,712,583...140,756,085
JBrowse link
G Trmo tRNA methyltransferase O ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 5:61,992,507...62,001,065
Ensembl chr 5:61,990,328...62,001,196
JBrowse link
G Tstd2 thiosulfate sulfurtransferase like domain containing 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 5:61,693,203...61,734,011
Ensembl chr 5:61,704,222...61,734,011
JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 PMID:32001716 PMID:32860008 NCBI chr14:44,479,614...44,502,845
Ensembl chr14:44,479,614...44,502,845
JBrowse link
G Usp19 ubiquitin specific peptidase 19 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar NCBI chr 8:117,280,690...117,291,729
Ensembl chr 8:117,280,705...117,291,351
JBrowse link
G Wasf1 WASP family member 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:29961568 PMID:32581362 NCBI chr20:48,456,191...48,503,768
Ensembl chr20:48,455,705...48,503,898
JBrowse link
G Wwox WW domain-containing oxidoreductase ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 NCBI chr19:46,761,353...47,695,247 JBrowse link
G Xpa XPA, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 5:61,749,767...61,793,641
Ensembl chr 5:61,749,767...61,792,928
JBrowse link
Benign Familial Infantile Seizures, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prrt2 proline-rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Seizures, benign familial infantile, 2
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:9579893 PMID:11179027 PMID:12953268 PMID:22101681 PMID:22120146 PMID:22131361 PMID:22209761 PMID:22243967 PMID:22399141 PMID:22623405 PMID:22744660 PMID:22782515 PMID:22832103 PMID:22845787 PMID:22870186 PMID:22875091 PMID:22877996 PMID:22895590 PMID:23077016 PMID:23077017 PMID:23077024 PMID:23077026 PMID:23126439 PMID:23180180 PMID:23182655 PMID:23299620 PMID:23768507 PMID:23771590 PMID:24074546 PMID:24370076 PMID:24661410 PMID:24755245 PMID:25502464 PMID:25522171 PMID:25667652 PMID:25741868 PMID:26467025 PMID:26598493 PMID:28074849 PMID:28492532 PMID:29334453 PMID:30980674 NCBI chr 1:198,451,042...198,454,998
Ensembl chr 1:198,451,324...198,454,914
JBrowse link
Benign Familial Infantile Seizures, 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 ISO ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 5 ClinVar PMID:23020937 PMID:23934111 PMID:25740509 PMID:25741868 PMID:26350515 PMID:28135719 PMID:28492532 PMID:28628100 PMID:29655203 PMID:30578330 PMID:31177578 PMID:31238879 NCBI chr 7:106,714,479...107,009,639
Ensembl chr 7:106,717,229...107,009,330
JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Seizures, benign familial infantile, 5 ClinVar
OMIM
PMID:18414213 PMID:25741868 PMID:26677014 PMID:27210545 PMID:28492532 NCBI chr 7:142,575,629...142,683,659
Ensembl chr 7:142,575,672...142,684,114
JBrowse link
childhood absence epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1a calcium voltage-gated channel subunit alpha1 A IAGP
ISO
DNA:mutation:cds:752T>A (p.M251K)(rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:17196942, PMID:17196942 RGD:1598976 NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
JBrowse link
G Cacna1agry calcium voltage-gated channel subunit alpha1 A; groggy mutant IAGP RGD PMID:17196942 RGD:1598976
G Cacna1h calcium voltage-gated channel subunit alpha1 H susceptibility ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 6
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 6
ClinVar
CTD
OMIM
PMID:12891677 PMID:14729682 PMID:15048902 PMID:15852375 PMID:15888660 PMID:17696120 PMID:25741868 PMID:26467025 PMID:28492532, PMID:12891677 RGD:1358447 NCBI chr10:14,730,932...14,789,201
Ensembl chr10:14,730,941...14,788,617
JBrowse link
G Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14660671 NCBI chr 8:116,154,661...116,285,643
Ensembl chr 8:116,154,736...116,284,985
JBrowse link
G Cacng2 calcium voltage-gated channel auxiliary subunit gamma 2 IEP mRNA,protein:increased expression:somatosensory cortex, primary motor cortex RGD PMID:18556211 RGD:13524553 NCBI chr 7:119,228,112...119,353,332
Ensembl chr 7:119,228,102...119,352,605
JBrowse link
G Cacng3 calcium voltage-gated channel auxiliary subunit gamma 3 ISO RGD PMID:11904235 RGD:728397 NCBI chr 1:192,613,766...192,708,371
Ensembl chr 1:192,613,372...192,709,078
JBrowse link
G Efhc1 EF-hand domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:27,068,505...27,107,713
Ensembl chr 9:27,068,443...27,107,709
JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 ISO ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 4 ClinVar PMID:16530959 PMID:16569738 PMID:16718694 PMID:24623842 PMID:25741868 PMID:26467025 PMID:26918889 PMID:27521439 PMID:28251550 PMID:28492532 NCBI chr10:27,310,718...27,371,802
Ensembl chr10:27,310,725...27,366,665
JBrowse link
G Gabra6 gamma-aminobutyric acid type A receptor subunit alpha6 ISO ClinVar Annotator: match by term: Childhood absence epilepsy ClinVar PMID:28492532 NCBI chr10:27,847,447...27,862,896
Ensembl chr10:27,847,439...27,862,868
JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 susceptibility ISO DNA:SNPs
ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:612269
OMIM
ClinVar
CTD
PMID:18514161 PMID:19935738 PMID:20550555 PMID:24088041 PMID:25726841 PMID:25741868 PMID:26467025 PMID:26633545 PMID:26845707 PMID:26950270 PMID:28492532, PMID:16835263 RGD:1601269 NCBI chr 1:113,034,251...113,265,364
Ensembl chr 1:112,976,770...113,265,364
JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO DNA:snp:intron:IVS6+2T>G (human) RGD PMID:12117362 RGD:1358631 NCBI chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900
JBrowse link
G Glud1 glutamate dehydrogenase 1 IEP protein:increased expression:thalamus RGD PMID:10975907 RGD:6484590 NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
JBrowse link
G Grik1 glutamate ionotropic receptor kainate type subunit 1 ISO RGD PMID:9259378 RGD:1358334 NCBI chr11:27,811,954...28,213,940
Ensembl chr11:27,811,957...27,971,359
JBrowse link
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 IEP RGD PMID:15182313 RGD:9686420 NCBI chr 2:50,099,576...50,499,799
Ensembl chr 2:50,099,576...50,499,799
JBrowse link
G Htr7 5-hydroxytryptamine receptor 7 IMP RGD PMID:15050708 RGD:6480686 NCBI chr 1:254,547,964...254,671,811
Ensembl chr 1:254,547,620...254,671,778
JBrowse link
G Jrk Jrk helix-turn-helix protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11463517 NCBI chr 7:115,941,788...115,946,471
Ensembl chr 7:115,942,743...115,946,425
JBrowse link
G Kcnk9 potassium two pore domain channel subfamily K member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15781965 NCBI chr 7:113,894,918...113,938,397
Ensembl chr 7:113,903,557...113,937,941
JBrowse link
G Lgi4 leucine-rich repeat LGI family, member 4 ISO DNA:point mutation: :c.1914G>A (human) RGD PMID:14505228 RGD:1302591 NCBI chr 1:89,491,588...89,502,939
Ensembl chr 1:89,491,654...89,502,974
JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP RGD PMID:20303372 RGD:8547934 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Npy neuropeptide Y treatment ISO
IDA
RGD PMID:17331209, PMID:24039965 RGD:10448963, RGD:10448964 NCBI chr 4:79,557,856...79,565,059
Ensembl chr 4:79,557,854...79,565,097
JBrowse link
G Npy1r neuropeptide Y receptor Y1 treatment IDA RGD PMID:17331209 RGD:10448963 NCBI chr16:24,779,480...24,789,131
Ensembl chr16:24,779,477...24,788,740
JBrowse link
G Npy2r neuropeptide Y receptor Y2 treatment IDA RGD PMID:17331209 RGD:10448963 NCBI chr 2:181,528,949...181,538,145
Ensembl chr 2:181,530,832...181,531,978
JBrowse link
G Npy5r neuropeptide Y receptor Y5 treatment IDA RGD PMID:17331209 RGD:10448963 NCBI chr16:24,796,685...24,805,730
Ensembl chr16:24,797,124...24,805,079
JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Childhood absence epilepsy ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:89,550,738...89,560,469
Ensembl chr 1:89,550,738...89,560,719
JBrowse link
G Slc2a1 solute carrier family 2 member 1 onset ISO DNA:deletion, missense mutations, SNP:multiple RGD PMID:26537434 RGD:11058811 NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
JBrowse link
G Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta IEP protein:increased expression:parietal lobe RGD PMID:21310218 RGD:9587483 NCBI chr 7:75,573,553...75,598,295
Ensembl chr 7:75,574,967...75,597,276
JBrowse link
Childhood Absence Epilepsy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp10a ATPase phospholipid transporting 10A (putative) ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 1 ClinVar PMID:11198279 PMID:28492532 NCBI chr 1:115,973,343...116,141,892
Ensembl chr 1:115,975,324...116,141,892
JBrowse link
G Gabra5 gamma-aminobutyric acid type A receptor subunit alpha 5 ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 1 ClinVar PMID:11198279 PMID:28492532 NCBI chr 1:112,833,941...112,947,482
Ensembl chr 1:112,833,944...112,947,451
JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 1
ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 1
ClinVar PMID:2828157 PMID:11198279 PMID:11742254 PMID:12189488 PMID:18514161 PMID:19935738 PMID:20550555 PMID:23495136 PMID:23934111 PMID:24909990 PMID:25533962 PMID:25726841 PMID:25741868 PMID:25849321 PMID:26068938 PMID:26467025 PMID:26704558 PMID:26845707 PMID:26950270 PMID:27476654 PMID:27622563 PMID:28053010 PMID:28281572 PMID:28492532 PMID:28544625 PMID:28607477 PMID:29961870 NCBI chr 1:113,034,251...113,265,364
Ensembl chr 1:112,976,770...113,265,364
JBrowse link
G Rorb RAR-related orphan receptor B ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 1 ClinVar PMID:25950944 NCBI chr 1:234,252,757...234,442,597
Ensembl chr 1:234,252,757...234,435,839
JBrowse link
Childhood Absence Epilepsy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 2 ClinVar PMID:11326274 PMID:11326275 PMID:11748509 PMID:12097483 PMID:12117362 PMID:12477709 PMID:15342642 PMID:15470132 PMID:15866052 PMID:16510738 PMID:16924025 PMID:17148443 PMID:18094250 PMID:18414213 PMID:18566737 PMID:20485450 PMID:20551311 PMID:21425109 PMID:22190369 PMID:22539854 PMID:22750526 PMID:23708187 PMID:23720301 PMID:23935098 PMID:24407264 PMID:24480790 PMID:24630281 PMID:24811917 PMID:25726841 PMID:25730860 PMID:25731747 PMID:25741868 PMID:26467025 PMID:27066572 PMID:27334371 PMID:27340224 PMID:27367160 PMID:27864268 PMID:27899622 PMID:28460589 PMID:28492532 PMID:29100083 PMID:29358611 PMID:29778030 NCBI chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900
JBrowse link
childhood onset epileptic encephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:15,610,230...15,616,727
Ensembl chr  X:15,598,652...15,617,665
JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:16813600 PMID:18414213 PMID:21775177 PMID:22867051 PMID:25741868 PMID:28492532 NCBI chr  X:35,536,396...35,773,204
Ensembl chr  X:35,599,258...35,771,711
JBrowse link
G Chd2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset
ClinVar Annotator: match by OMIM:615369
OMIM
ClinVar
PMID:2578359 PMID:9326634 PMID:15955779 PMID:15988005 PMID:22178256 PMID:23020937 PMID:23708187 PMID:24207121 PMID:24614520 PMID:24932903 PMID:25262651 PMID:25326635 PMID:25384982 PMID:25418537 PMID:25741868 PMID:25783594 PMID:26467025 PMID:26615199 PMID:26754451 PMID:26795593 PMID:28074849 PMID:28492532 PMID:29358611 PMID:29720203 PMID:29740950 PMID:30564305 PMID:30868116 PMID:32238909 NCBI chr 1:134,757,934...134,873,053
Ensembl chr 1:134,757,934...134,871,167
JBrowse link
G Dnm1 dynamin 1 ISO RGD PMID:27363778 RGD:11557016 NCBI chr 3:11,338,081...11,382,043
Ensembl chr 3:11,338,083...11,382,043
JBrowse link
G Fgf12 fibroblast growth factor 12 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:25741868 PMID:27164707 PMID:27830185 NCBI chr11:75,606,360...76,171,078
Ensembl chr11:75,905,443...76,168,989
JBrowse link
G Fmr1 FMRP translational regulator 1 IEP protein:decreased expression:hippocampus, cytosol (rat) RGD PMID:23831253 RGD:11667971 NCBI chr  X:154,684,924...154,722,369
Ensembl chr  X:154,684,935...154,722,314
JBrowse link
G Praf2 PRA1 domain family, member 2 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:15,618,324...15,620,992
Ensembl chr  X:15,618,991...15,620,841
JBrowse link
G Rbfox1 RNA binding fox-1 homolog 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr10:8,312,961...10,437,778
Ensembl chr10:8,312,961...8,654,892
JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:16813600 PMID:18414213 PMID:21775177 PMID:22867051 PMID:25741868 PMID:28492532 NCBI chr  X:35,749,957...35,777,243
Ensembl chr  X:35,749,957...35,777,243
JBrowse link
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:26384929 PMID:27261973 PMID:27600704 PMID:28492532 NCBI chr10:58,806,581...58,835,549
Ensembl chr10:58,810,058...58,834,538
JBrowse link
G Srgap2 SLIT-ROBO Rho GTPase activating protein 2 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr13:48,065,280...48,286,888
Ensembl chr13:48,068,158...48,286,720
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:18414213 PMID:24781210 PMID:25356970 PMID:25741868 PMID:26795593 PMID:26865513 PMID:26993267 PMID:28492532 PMID:29264391 NCBI chr 3:11,823,779...11,885,479
Ensembl chr 3:11,823,785...11,885,417
JBrowse link
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 chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
JBrowse link
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:15,621,249...15,627,159
Ensembl chr  X:15,621,209...15,627,235
JBrowse link
developmental and epileptic encephalopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd16b abhydrolase domain containing 16B ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,985,900...176,987,797
Ensembl chr 3:176,985,900...176,987,796
JBrowse link
G Ak1 adenylate kinase 1 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,652,143...11,659,135 JBrowse link
G Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr  X:115,561,329...115,589,792
Ensembl chr  X:115,561,332...115,619,505
JBrowse link
G Arfrp1 ADP-ribosylation factor related protein 1 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,857,667...176,865,105
Ensembl chr 3:176,859,151...176,865,103
JBrowse link
G Arhgef15 Rho guanine nucleotide exchange factor 15 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:23647072 PMID:25741868 PMID:28492532 NCBI chr10:55,532,097...55,545,675
Ensembl chr10:55,532,077...55,544,429
JBrowse link
G Arx aristaless related homeobox ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome
associated with Mental Retardation, X-Linked;DNA:insertion:cds:c.333_334ins(GCG)7 (human)
ClinVar Annotator: match by OMIM:308350
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:10353782 PMID:10398246 PMID:11889467 PMID:11971879 PMID:12116222 PMID:12177367 PMID:12376938 PMID:12376946 PMID:12376949 PMID:12640086 PMID:12874418 PMID:14722918 PMID:15151512 PMID:15200506 PMID:15850492 PMID:16078051 PMID:16235064 PMID:16523516 PMID:17331656 PMID:17480217 PMID:17641262 PMID:17668384 PMID:18414213 PMID:18462864 PMID:19507262 PMID:19606478 PMID:19738637 PMID:20148114 PMID:20300201 PMID:20506206 PMID:21108397 PMID:21204215 PMID:21204226 PMID:21496008 PMID:22922607 PMID:23039062 PMID:23246292 PMID:23757202 PMID:24643514 PMID:24781210 PMID:25741868 PMID:26029707 PMID:26337422 PMID:26467025 PMID:28492532 PMID:29152528 PMID:30255221 PMID:31623504 PMID:32313153, PMID:17664401, PMID:19587282 RGD:11565846, RGD:11565838 NCBI chr  X:62,363,757...62,376,139
Ensembl chr  X:62,363,757...62,376,143
JBrowse link
G Bbln bublin coiled coil protein ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,408,076...11,410,907
Ensembl chr 3:11,408,348...11,410,732
JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
JBrowse link
G Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18487195 PMID:23339110 PMID:24358150 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30410802 NCBI chr 8:116,154,661...116,285,643
Ensembl chr 8:116,154,736...116,284,985
JBrowse link
G Ccnf cyclin F ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 PMID:26467025 PMID:27259978 PMID:27281533 PMID:28301460 PMID:28492532 PMID:29358611 NCBI chr10:13,594,687...13,619,935
Ensembl chr10:13,594,687...13,619,935
JBrowse link
G Cdhr5 cadherin-related family member 5 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,255,118...214,263,848
Ensembl chr 1:214,255,110...214,263,581
JBrowse link
G Cdk9 cyclin-dependent kinase 9 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,742,269...11,747,117
Ensembl chr 3:11,742,266...11,747,113
JBrowse link
G Cend1 cell cycle exit and neuronal differentiation 1 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,407,072...214,410,069
Ensembl chr 1:214,408,100...214,408,549
JBrowse link
G Cercam cerebral endothelial cell adhesion molecule ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:8,421,116...8,444,743
Ensembl chr 3:8,430,829...8,444,851
JBrowse link
G Cfap157 cilia and flagella associated protein 157 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,813,575...11,820,549
Ensembl chr 3:11,813,575...11,820,549
JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,533,182...176,547,965
Ensembl chr 3:176,527,516...176,548,208
JBrowse link
G Ciz1 CDKN1A interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,392,046...11,409,218
Ensembl chr 3:11,392,791...11,410,180
JBrowse link
G Coq4 coenzyme Q4 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:8,349,386...8,357,719
Ensembl chr 3:8,349,185...8,357,871
JBrowse link
G Csnk1e casein kinase 1, epsilon ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar NCBI chr 7:120,651,976...120,675,559
Ensembl chr 7:120,651,881...120,672,359
JBrowse link
G Csrnp3 cysteine and serine rich nuclear protein 3 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28492532 NCBI chr 3:51,883,559...52,120,290
Ensembl chr 3:51,883,559...52,120,290
JBrowse link
G Cyb561d2 cytochrome b561 family, member D2 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18487195 PMID:23339110 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 8:116,295,328...116,297,879
Ensembl chr 8:116,295,329...116,297,858
JBrowse link
G Deaf1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,283,787...214,317,466
Ensembl chr 1:214,283,790...214,317,466
JBrowse link
G Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:177,012,714...177,047,787
Ensembl chr 3:177,013,604...177,043,902
JBrowse link
G Dnm1 dynamin 1 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,338,081...11,382,043
Ensembl chr 3:11,338,083...11,382,043
JBrowse link
G Dpm2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,587,941...11,590,528
Ensembl chr 3:11,587,941...11,590,528
JBrowse link
G Drd4 dopamine receptor D4 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,278,296...214,282,818
Ensembl chr 1:214,278,296...214,281,483
JBrowse link
G Eef1a2 eukaryotic translation elongation factor 1 alpha 2 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,657,104...176,666,282
Ensembl chr 3:176,657,107...176,666,282
JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
JBrowse link
G Eps8l2 EPS8-like 2 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,327,992...214,353,466
Ensembl chr 1:214,328,071...214,353,461
JBrowse link
G Fam102a family with sequence similarity 102, member A ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,554,084...11,586,315
Ensembl chr 3:11,554,457...11,586,303
JBrowse link
G Fndc11 fibronectin type III domain containing 11 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,721,100...176,724,736
Ensembl chr 3:176,721,827...176,725,837
JBrowse link
G Fpgs folylpolyglutamate synthase ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,717,667...11,729,694
Ensembl chr 3:11,717,667...11,723,327
JBrowse link
G Gabra2 gamma-aminobutyric acid type A receptor subunit alpha 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:29422393 NCBI chr14:39,662,411...39,801,082
Ensembl chr14:39,661,968...39,798,302
JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr 1:113,034,251...113,265,364
Ensembl chr 1:112,976,770...113,265,364
JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28492532 NCBI chr 3:52,174,469...52,212,395
Ensembl chr 3:52,175,547...52,212,412
JBrowse link
G Gatd1 glutamine amidotransferase like class 1 domain containing 1 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,389,006...214,394,451
Ensembl chr 1:214,389,255...214,394,411
JBrowse link
G Gle1 GLE1 RNA export mediator ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:8,498,098...8,530,218
Ensembl chr 3:8,498,122...8,526,771
JBrowse link
G Gmeb2 glucocorticoid modulatory element binding protein 2 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,756,006...176,791,960
Ensembl chr 3:176,753,860...176,791,960
JBrowse link
G Gnao1 G protein subunit alpha o1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy
ClinVar PMID:23993195 PMID:25741868 PMID:25966631 PMID:26060304 PMID:26467025 PMID:26485252 PMID:27068059 PMID:27072799 PMID:27625011 PMID:27864847 PMID:28202424 PMID:28357411 PMID:28492532 PMID:28688840 PMID:28747448 PMID:28817111 PMID:29390993 PMID:32581362 NCBI chr19:11,513,201...11,669,578
Ensembl chr19:11,513,201...11,669,578
JBrowse link
G Golga2 golgin A2 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,317,328...11,337,569
Ensembl chr 3:11,317,183...11,336,458
JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:25741868 PMID:31422819 NCBI chr19:9,587,637...9,613,323
Ensembl chr19:9,587,653...9,613,340
JBrowse link
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy
CTD
ClinVar
PMID:20437590 PMID:22131395 PMID:24747641 PMID:25678871 PMID:25741868 PMID:26073591 PMID:26467025 PMID:28488083 PMID:28492532 NCBI chr 2:50,099,576...50,499,799
Ensembl chr 2:50,099,576...50,499,799
JBrowse link
G Helz2 helicase with zinc finger 2 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,730,024...176,744,382
Ensembl chr 3:176,731,769...176,744,377
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
JBrowse link
G Irf7 interferon regulatory factor 7 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,249,388...214,252,909
Ensembl chr 1:214,248,837...214,252,456
JBrowse link
G Kcna2 potassium voltage-gated channel subfamily A member 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:8663992 PMID:8663993 PMID:15694325 PMID:16002579 PMID:21044565 PMID:25477152 PMID:25741868 PMID:25751627 PMID:27733563 PMID:28492532 NCBI chr 2:209,838,607...209,852,471
Ensembl chr 2:209,838,869...209,852,471
JBrowse link
G Kcnb1 potassium voltage-gated channel subfamily B member 1 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:25741868 NCBI chr 3:163,850,785...163,935,610
Ensembl chr 3:163,850,785...163,935,617
JBrowse link
G Kcnh5 potassium voltage-gated channel subfamily H member 5 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:23647072 PMID:24133262 PMID:25741868 PMID:28492532 NCBI chr 6:97,872,831...98,157,087
Ensembl chr 6:97,872,831...98,157,087
JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy
ClinVar PMID:3360469 PMID:4055306 PMID:9425895 PMID:9536098 PMID:9872318 PMID:10482260 PMID:10774989 PMID:11175290 PMID:11572947 PMID:11690625 PMID:11784811 PMID:12742592 PMID:12754513 PMID:14534157 PMID:14985406 PMID:15596469 PMID:16039833 PMID:16199547 PMID:16597729 PMID:16916607 PMID:17475800 PMID:17576681 PMID:17872363 PMID:18353052 PMID:18414213 PMID:18483067 PMID:18515377 PMID:19344764 PMID:19380078 PMID:19453707 PMID:19559753 PMID:19822871 PMID:20119593 PMID:21685056 PMID:21937445 PMID:22013194 PMID:22169383 PMID:22275249 PMID:22455920 PMID:22926866 PMID:23360469 PMID:23440208 PMID:23621294 PMID:23692823 PMID:23708187 PMID:23934111 PMID:24107868 PMID:24318194 PMID:24371303 PMID:24375629 PMID:24463883 PMID:24586341 PMID:24759409 PMID:24811917 PMID:24904429 PMID:25052858 PMID:25262651 PMID:25326635 PMID:25473036 PMID:25533962 PMID:25590979 PMID:25740509 PMID:25741868 PMID:25818041 PMID:25880994 PMID:25951140 PMID:25959266 PMID:25982755 PMID:26007637 PMID:26073431 PMID:26138355 PMID:26148514 PMID:26446091 PMID:26467025 PMID:26544041 PMID:26704558 PMID:26758118 PMID:26993267 PMID:27334371 PMID:27466704 PMID:27535030 PMID:27602407 PMID:27779742 PMID:27781031 PMID:27861786 PMID:27864847 PMID:27888506 PMID:28133863 PMID:28139826 PMID:28283543 PMID:28399683 PMID:28420012 PMID:28492532 PMID:28602030 PMID:28687180 PMID:28717674 PMID:28867141 PMID:28926830 PMID:28973083 PMID:29056246 PMID:29186148 PMID:29190809 PMID:29215089 PMID:29263209 PMID:29314763 PMID:29390993 PMID:29429461 PMID:29644095 PMID:29655203 PMID:29720203 PMID:29933521 PMID:30109124 PMID:30126342 PMID:30174244 PMID:30185235 PMID:30478917 PMID:31152295 PMID:31199083 PMID:32488064 PMID:32581362 PMID:32860008 NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
JBrowse link
G Lcn2 lipocalin 2 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,414,189...11,417,534
Ensembl chr 3:11,414,186...11,417,546
JBrowse link
G Lime1 Lck interacting transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,881,881...176,888,230
Ensembl chr 3:176,882,027...176,884,350
JBrowse link
G Lmntd2 lamin tail domain containing 2 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,197,126...214,202,828
Ensembl chr 1:214,196,430...214,202,853
JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,182,232...214,197,184
Ensembl chr 1:214,182,830...214,197,184
JBrowse link
G Maf MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 PMID:29390993 NCBI chr19:48,179,826...48,200,995
Ensembl chr19:48,194,804...48,196,748
JBrowse link
G Mir210 microRNA 210 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,208,355...214,208,464 JBrowse link
G Mir2964 microRNA 2964 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:8,407,427...8,407,526
Ensembl chr 3:8,407,427...8,407,526
JBrowse link
G Naif1 nuclear apoptosis inducing factor 1 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,476,330...11,482,629
Ensembl chr 3:11,476,883...11,481,744
JBrowse link
G Napb NSF attachment protein beta ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar NCBI chr 3:143,017,571...143,063,904
Ensembl chr 3:143,020,454...143,063,983
JBrowse link
G Nrxn2 neurexin 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar NCBI chr 1:221,792,191...221,908,047
Ensembl chr 1:221,792,221...221,908,049
JBrowse link
G Odf2 outer dense fiber of sperm tails 2 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:8,449,733...8,495,764
Ensembl chr 3:8,450,275...8,496,008
JBrowse link
G Phrf1 PHD and ring finger domains 1 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,215,673...214,248,906
Ensembl chr 1:214,215,992...214,248,901
JBrowse link
G Pigp phosphatidylinositol glycan anchor biosynthesis, class P ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:28334793 PMID:31139695 PMID:32042915 NCBI chr11:34,592,128...34,598,253
Ensembl chr11:34,592,121...34,598,275
JBrowse link
G Pip5kl1 phosphatidylinositol-4-phosphate 5-kinase-like 1 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,592,156...11,597,513
Ensembl chr 3:11,593,655...11,597,410
JBrowse link
G Plcb1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr 3:127,721,244...128,419,565
Ensembl chr 3:128,155,069...128,419,545
JBrowse link
G Pola1 DNA polymerase alpha 1, catalytic subunit ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr  X:62,382,604...62,698,830
Ensembl chr  X:62,382,608...62,698,830
JBrowse link
G Ppdpf pancreatic progenitor cell differentiation and proliferation factor ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,690,507...176,692,272
Ensembl chr 3:176,691,329...176,692,271
JBrowse link
G Ptges2 prostaglandin E synthase 2 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,424,195...11,431,379
Ensembl chr 3:11,424,099...11,431,402
JBrowse link
G Ptk6 protein tyrosine kinase 6 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,698,305...176,706,896
Ensembl chr 3:176,698,305...176,706,896
JBrowse link
G Ptrh1 peptidyl-tRNA hydrolase 1 homolog ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,811,303...11,817,007
Ensembl chr 3:11,811,962...11,825,640
JBrowse link
G Rassf7 Ras association domain family member 7 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,202,722...214,205,799
Ensembl chr 1:214,203,861...214,205,782
JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,818,012...176,856,531
Ensembl chr 3:176,818,437...176,856,531
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy
ClinVar PMID:1868258 PMID:1893099 PMID:9126059 PMID:9536098 PMID:10486327 PMID:10521305 PMID:10742094 PMID:11118488 PMID:11254444 PMID:11254445 PMID:11359211 PMID:11567038 PMID:11940708 PMID:12083760 PMID:12086636 PMID:12535936 PMID:12566275 PMID:12576172 PMID:12610651 PMID:12754708 PMID:12821740 PMID:12919402 PMID:14504318 PMID:14672992 PMID:14702334 PMID:14738421 PMID:15087100 PMID:15277629 PMID:15508916 PMID:15694566 PMID:16075041 PMID:16199547 PMID:16210358 PMID:16458823 PMID:16541393 PMID:16713913 PMID:16713920 PMID:16865694 PMID:17054684 PMID:17054685 PMID:17129991 PMID:17166794 PMID:17347258 PMID:17537961 PMID:17561957 PMID:17576681 PMID:17679682 PMID:17903680 PMID:18021921 PMID:18056581 PMID:18076640 PMID:18330841 PMID:18413471 PMID:18414213 PMID:18479393 PMID:18554359 PMID:18804930 PMID:18930999 PMID:19200853 PMID:19236456 PMID:19303743 PMID:19359143 PMID:19400878 PMID:19522081 PMID:19563349 PMID:19585586 PMID:19589774 PMID:19763161 PMID:19782004 PMID:20100831 PMID:20110217 PMID:20117752 PMID:20431604 PMID:20452746 PMID:20522430 PMID:20550552 PMID:20562086 PMID:20600615 PMID:20729507 PMID:20738378 PMID:20879882 PMID:21248271 PMID:21371021 PMID:21396429 PMID:21416599 PMID:21425109 PMID:21692795 PMID:21703448 PMID:21713554 PMID:21719429 PMID:21844054 PMID:21864321 PMID:21868258 PMID:21906962 PMID:22011963 PMID:22050978 PMID:22071555 PMID:22092154 PMID:22140375 PMID:22147323 PMID:22150645 PMID:22151702 PMID:22409937 PMID:22550089 PMID:22612257 PMID:22780858 PMID:22848613 PMID:23016767 PMID:23086956 PMID:23103419 PMID:23184456 PMID:23195492 PMID:23398550 PMID:23398611 PMID:23527921 PMID:23662938 PMID:23708187 PMID:23762420 PMID:23808377 PMID:23821540 PMID:23884151 PMID:23895530 PMID:23934111 PMID:24097157 PMID:24136861 PMID:24155976 PMID:24168886 PMID:24277604 PMID:24328833 PMID:24337656 PMID:24472396 PMID:24502503 PMID:24623842 PMID:24656210 PMID:24679980 PMID:25243660 PMID:25326635 PMID:25348405 PMID:25378155 PMID:25401298 PMID:25459968 PMID:25459969 PMID:25524840 PMID:25576396 PMID:25669891 PMID:25741868 PMID:25818041 PMID:25885068 PMID:26068938 PMID:26096185 PMID:26169758 PMID:26188943 PMID:26252084 PMID:26339958 PMID:26467025 PMID:26544041 PMID:26633542 PMID:26699486 PMID:26845707 PMID:26990884 PMID:26993267 PMID:27029629 PMID:27066544 PMID:27113213 PMID:27197941 PMID:27231140 PMID:27236449 PMID:27267376 PMID:27465585 PMID:27652284 PMID:27781031 PMID:27864847 PMID:28012175 PMID:28074849 PMID:28079314 PMID:28084635 PMID:28102150 PMID:28148630 PMID:28150151 PMID:28192756 PMID:28202706 PMID:28387369 PMID:28492532 PMID:28544625 PMID:28708303 PMID:28794249 PMID:28842445 PMID:28951233 PMID:29056246 PMID:29100083 PMID:29141279 PMID:29142202 PMID:29186148 PMID:29314583 PMID:29358611 PMID:29408779 PMID:29460957 PMID:29655203 PMID:29739726 PMID:29760947 PMID:29852413 PMID:30146492 PMID:30182498 PMID:30321769 PMID:30525188 PMID:30558019 PMID:30619928 PMID:30659983 PMID:30977726 PMID:31001185 PMID:31009440 PMID:31439038 PMID:31782251 PMID:31791873 PMID:32238909 PMID:32581362 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28492532 NCBI chr 3:51,687,910...51,822,008
Ensembl chr 3:51,687,809...51,822,250
JBrowse link
G Scn3a sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28492532 NCBI chr 3:51,530,897...51,643,140
Ensembl chr 3:51,532,627...51,643,140
JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar PMID:12374766 PMID:15525788 PMID:15800189 PMID:17881658 PMID:18414213 PMID:19465131 PMID:20869590 PMID:22365152 PMID:23020937 PMID:24874546 PMID:24888894 PMID:25046240 PMID:25227913 PMID:25239001 PMID:25326635 PMID:25326637 PMID:25568300 PMID:25741868 PMID:25785782 PMID:25849321 PMID:25951352 PMID:26029160 PMID:26220391 PMID:26235739 PMID:26297079 PMID:26467025 PMID:26647175 PMID:26900580 PMID:26993267 PMID:27210545 PMID:27779742 PMID:27781031 PMID:27864847 PMID:27875746 PMID:27900360 PMID:28387369 PMID:28492532 PMID:28676574 PMID:28702509 PMID:28735751 PMID:28923014 PMID:29100083 PMID:29121005 PMID:29186148 PMID:29432985 PMID:29588952 PMID:29655203 PMID:29720203 PMID:30109124 PMID:30171078 PMID:30615093 NCBI chr 7:142,575,629...142,683,659
Ensembl chr 7:142,575,672...142,684,114
JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28202706 PMID:28492532 NCBI chr 3:52,583,953...52,664,209
Ensembl chr 3:52,583,951...52,664,209
JBrowse link
G Sct secretin ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,264,865...214,277,437
Ensembl chr 1:214,264,754...214,265,668
JBrowse link
G Sh2d3c SH2 domain containing 3C ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,756,427...11,793,547
Ensembl chr 3:11,756,384...11,793,593
JBrowse link
G Slc25a22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18414213 PMID:25741868 PMID:26467025 PMID:27843123 PMID:28255779 PMID:28492532 NCBI chr 1:214,410,388...214,418,236
Ensembl chr 1:214,410,417...214,414,897
JBrowse link
G Slc25a25 solute carrier family 25 member 25 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,442,396...11,476,186
Ensembl chr 3:11,442,397...11,452,529
JBrowse link
G Slc27a4 solute carrier family 27 member 4 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:8,363,937...8,376,858
Ensembl chr 3:8,363,937...8,376,858
JBrowse link
G Slc2a4rg SLC2A4 regulator ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089
G Slc35a2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr  X:15,453,184...15,461,990
Ensembl chr  X:15,453,186...15,461,713
JBrowse link
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18414213 PMID:18469812 PMID:22258530 PMID:25224718 PMID:25741868 PMID:26467025 PMID:26539891 PMID:26704558 PMID:26865513 PMID:28166811 PMID:28199897 PMID:28492532 PMID:29264391 PMID:29358611 PMID:29655203 NCBI chr 3:8,534,437...8,599,259
Ensembl chr 3:8,534,440...8,599,260
JBrowse link
G Srms src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,709,742...176,716,146
Ensembl chr 3:176,709,743...176,716,146
JBrowse link
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy
ClinVar PMID:18414213 PMID:23252400 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:136,765,309...136,965,642
Ensembl chr 5:136,766,208...136,965,191
JBrowse link
G St6galnac4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,607,103...11,619,595
Ensembl chr 3:11,607,225...11,619,593
JBrowse link
G St6galnac6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,620,050...11,641,460
Ensembl chr 3:11,629,556...11,641,466
JBrowse link
G Stmn3 stathmin 3 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,808,016...176,816,108
Ensembl chr 3:176,808,017...176,816,162
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18414213 PMID:18469812 PMID:19557857 PMID:20876469 PMID:20887364 PMID:21762454 PMID:21770924 PMID:22211739 PMID:22495311 PMID:22722545 PMID:23409955 PMID:23662938 PMID:23708187 PMID:23757202 PMID:23934111 PMID:24033266 PMID:24189369 PMID:24315539 PMID:24623842 PMID:24781210 PMID:25008876 PMID:25131622 PMID:25356970 PMID:25418441 PMID:25497044 PMID:25556537 PMID:25693842 PMID:25714420 PMID:25741868 PMID:26384463 PMID:26467025 PMID:26514728 PMID:26544041 PMID:26633542 PMID:26648591 PMID:26795593 PMID:26865513 PMID:26918652 PMID:26993267 PMID:27069701 PMID:27171548 PMID:27184330 PMID:27779742 PMID:28133863 PMID:28387360 PMID:28387369 PMID:28492532 PMID:28628100 PMID:28947817 PMID:29186148 PMID:29264391 PMID:29314583 PMID:29896790 PMID:30109124 PMID:31255830 PMID:31474318 PMID:32238909 PMID:32581362 NCBI chr 3:11,823,779...11,885,479
Ensembl chr 3:11,823,785...11,885,417
JBrowse link
G Swi5 SWI5 homologous recombination repair protein ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,307,981...11,317,049
Ensembl chr 3:11,307,981...11,317,049
JBrowse link
G Synj1 synaptojanin 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr11:31,105,784...31,181,573
Ensembl chr11:31,104,787...31,180,642
JBrowse link
G Szt2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:137,192,120...137,238,384
Ensembl chr 5:137,190,875...137,238,354
JBrowse link
G Taldo1 transaldolase 1 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,375,555...214,385,886
Ensembl chr 1:214,375,515...214,385,885
JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1
ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome
ClinVar PMID:10574461 PMID:16855591 PMID:18414213 PMID:20727515 PMID:22277662 PMID:23184456 PMID:23526554 PMID:23806086 PMID:24033266 PMID:24088043 PMID:24291220 PMID:24387994 PMID:24848745 PMID:25169651 PMID:25557349 PMID:25719194 PMID:25741868 PMID:25769375 PMID:26207815 PMID:26371875 PMID:26467025 PMID:26668325 PMID:27259978 PMID:27281533 PMID:27502353 PMID:27541164 PMID:28072960 PMID:28292732 PMID:28301460 PMID:28428906 PMID:28492532 PMID:28663785 PMID:29100083 PMID:29358611 PMID:29671961 PMID:30108545 PMID:30180405 PMID:30311386 PMID:30335140 PMID:30776697 PMID:31112829 PMID:31257402 NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
JBrowse link
G Tmem80 transmembrane protein 80 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,317,300...214,326,293
Ensembl chr 1:214,317,682...214,326,294
JBrowse link
G Tor2a torsin family 2, member A ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,794,731...11,800,261
Ensembl chr 3:11,795,629...11,799,693
JBrowse link
G Tpd52l2 TPD52 like 2 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,989,333...177,009,425
Ensembl chr 3:176,989,672...177,008,419
JBrowse link
G Trub2 TruB pseudouridine synthase family member 2 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:8,338,479...8,348,746
Ensembl chr 3:8,338,484...8,348,746
JBrowse link
G Ttc16 tetratricopeptide repeat domain 16 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,799,788...11,811,600
Ensembl chr 3:11,799,612...11,810,901
JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28492532 NCBI chr 3:52,286,794...52,361,060
Ensembl chr 3:52,286,794...52,361,060
JBrowse link
G Uba5 ubiquitin-like modifier activating enzyme 5 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:24033266 PMID:25741868 PMID:27545674 PMID:27545681 PMID:27926783 PMID:28492532 PMID:28965491 PMID:29286531 NCBI chr 8:112,578,607...112,594,192
Ensembl chr 8:112,578,590...112,594,261
JBrowse link
G Urm1 ubiquitin related modifier 1 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:8,389,024...8,405,868
Ensembl chr 3:8,389,024...8,405,868
JBrowse link
G Wwox WW domain-containing oxidoreductase ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome
ClinVar PMID:11572989 PMID:20480411 PMID:21983861 PMID:24082139 PMID:24456803 PMID:25403906 PMID:25411445 PMID:25558065 PMID:25612104 PMID:25741868 PMID:26467025 PMID:27495153 PMID:27569545 PMID:27717089 PMID:27884173 PMID:28492532 PMID:29358611 PMID:29390993 PMID:29675105 PMID:29852413 PMID:29905011 NCBI chr19:46,761,353...47,695,247 JBrowse link
G Zbtb46 zinc finger and BTB domain containing 46 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,888,502...176,959,009
Ensembl chr 3:176,890,806...176,958,880
JBrowse link
G Zgpat zinc finger CCCH-type and G-patch domain containing ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,865,078...176,881,603
Ensembl chr 3:176,865,156...176,881,549
JBrowse link
developmental and epileptic encephalopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bend2 BEN domain containing 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 NCBI chr  X:35,151,376...35,200,501 JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 severity ISO ClinVar Annotator: match by OMIM:300672
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2
ClinVar Annotator: match by term: INFANTILE SPASM SYNDROME, X-LINKED 2
DNA:mutations:cds:
ClinVar
OMIM
PMID:15492925 PMID:15499549 PMID:15689447 PMID:15917271 PMID:16015284 PMID:16326141 PMID:16330482 PMID:16611748 PMID:16813600 PMID:17256798 PMID:17993579 PMID:18063413 PMID:18076117 PMID:18414213 PMID:18564362 PMID:18790821 PMID:18809835 PMID:19161156 PMID:19241098 PMID:19253388 PMID:19362436 PMID:19396824 PMID:19428276 PMID:19471977 PMID:19564592 PMID:19740913 PMID:19780792 PMID:19793311 PMID:19807736 PMID:20397747 PMID:20479760 PMID:20493745 PMID:20602487 PMID:20848651 PMID:21160487 PMID:21293276 PMID:21309761 PMID:21318334 PMID:21482751 PMID:21765152 PMID:21770923 PMID:21775177 PMID:21802232 PMID:22264704 PMID:22430159 PMID:22670135 PMID:22678952 PMID:22779007 PMID:22812903 PMID:22832775 PMID:22867051 PMID:22872100 PMID:22922712 PMID:22982301 PMID:23064044 PMID:23151060 PMID:23184456 PMID:23236174 PMID:23238081 PMID:23242510 PMID:23262346 PMID:23583054 PMID:23647072 PMID:23828526 PMID:23934111 PMID:24500651 PMID:24564546 PMID:24715584 PMID:25266480 PMID:25315662 PMID:25326635 PMID:25657822 PMID:25741868 PMID:25819767 PMID:26467025 PMID:26482601 PMID:27081548 PMID:27187038 PMID:27848944 PMID:28492532 PMID:28837158 PMID:29190809 PMID:29264392 PMID:29390993 PMID:29420175 PMID:29444904 PMID:29655203 PMID:30776697 PMID:31492455 PMID:31780880 PMID:31791873, PMID:22678952 RGD:12791015 NCBI chr  X:35,536,396...35,773,204
Ensembl chr  X:35,599,258...35,771,711
JBrowse link
G Nhs NHS actin remodeling regulator ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 NCBI chr  X:34,312,102...34,675,912
Ensembl chr  X:34,623,405...34,673,742
JBrowse link
G Rai2 retinoic acid induced 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 NCBI chr  X:34,731,891...34,794,589
Ensembl chr  X:34,731,891...34,794,589
JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2
ClinVar Annotator: match by term: INFANTILE SPASM SYNDROME, X-LINKED 2
ClinVar PMID:15499549 PMID:16813600 PMID:18076117 PMID:18414213 PMID:18564362 PMID:19241098 PMID:19428276 PMID:19780792 PMID:20479760 PMID:20493745 PMID:21160487 PMID:21770923 PMID:21775177 PMID:21802232 PMID:22867051 PMID:23184456 PMID:23242510 PMID:23828526 PMID:25315662 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29655203 NCBI chr  X:35,749,957...35,777,243
Ensembl chr  X:35,749,957...35,777,243
JBrowse link
G Scml1 Scm polycomb group protein like 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 NCBI chr  X:34,676,728...34,694,251 JBrowse link
G Scml2 Scm polycomb group protein like 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 NCBI chr  X:35,305,235...35,431,271
Ensembl chr  X:35,305,236...35,431,164
JBrowse link
epilepsy with generalized tonic-clonic seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15121994 NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
JBrowse link
G Bdnf brain-derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16835697 NCBI chr 7:123,599,264...123,608,436
Ensembl chr 7:123,599,266...123,608,436
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Hbegf heparin-binding EGF-like growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr18:29,330,302...29,340,185
Ensembl chr18:29,329,764...29,340,403
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 IEP protein:decreased expression:dorsal plus ventral thalamus, cerebral cortex, astrocyte projection RGD PMID:23603404 RGD:8662897 NCBI chr13:90,722,945...90,753,338
Ensembl chr13:90,723,092...90,752,581
JBrowse link
G Lgi1 leucine-rich, glioma inactivated 1 IMP RGD PMID:30813600 RGD:14995940 NCBI chr 1:256,955,944...256,996,835
Ensembl chr 1:256,955,652...256,999,253
JBrowse link
G Lgi1m1Kyo leucine-rich, glioma inactivated 1; ENU induced mutant1, Kyo IMP RGD PMID:30813600 RGD:14995940
G Lig1 DNA ligase 1 IMP RGD PMID:30813600 RGD:14995940 NCBI chr 1:75,356,212...75,394,757
Ensembl chr 1:75,356,220...75,394,758
JBrowse link
G Mbd5 methyl-CpG binding domain protein 5 ISO ClinVar Annotator: match by term: Tonic-clonic convulsions ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:33,364,812...33,504,144
Ensembl chr 3:33,440,191...33,504,238
JBrowse link
G Nes nestin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16137769 NCBI chr 2:187,343,109...187,352,972
Ensembl chr 2:187,344,056...187,352,969
JBrowse link
G Ngf nerve growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
JBrowse link
G Ntf3 neurotrophin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr 4:158,636,883...158,705,886
Ensembl chr 4:158,636,884...158,705,886
JBrowse link
G Oxt oxytocin/neurophysin I prepropeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:4988877 PMID:6407273 NCBI chr 3:123,106,694...123,107,534
Ensembl chr 3:123,106,694...123,107,534
JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Tonic-clonic convulsions ClinVar NCBI chr  X:104,387,346...104,493,914
Ensembl chr  X:104,391,607...104,493,757
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:4371370 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: tonic-clonic convulsions ClinVar PMID:11254445 PMID:18021921 PMID:21396429 PMID:22550089 PMID:22780858 PMID:23398611 PMID:25741868 PMID:26990884 PMID:28492532 PMID:29358611 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Tonic-clonic convulsions ClinVar PMID:25741868 NCBI chr 7:142,575,629...142,683,659
Ensembl chr 7:142,575,672...142,684,114
JBrowse link
G Slc25a24 solute carrier family 25 member 24 ISO ClinVar Annotator: match by term: Tonic-clonic convulsions ClinVar PMID:25741868 NCBI chr 2:211,930,371...211,967,511
Ensembl chr 2:211,930,326...211,967,505
JBrowse link
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Tonic-clonic convulsions ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:8,534,437...8,599,259
Ensembl chr 3:8,534,440...8,599,260
JBrowse link
Generalized Epilepsy and Paroxysmal Dyskinesia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy
ClinVar Annotator: match by term: Generalized epilepsy and paroxysmal dyskinesia
ClinVar Annotator: match by OMIM:609446
OMIM
ClinVar
PMID:15937479 PMID:16946189 PMID:18414213 PMID:19266219 PMID:20430843 PMID:25326635 PMID:25326637 PMID:25741868 PMID:26195193 PMID:26467025 PMID:28492532 PMID:29330545 PMID:29933521 NCBI chr15:344,204...1,048,849
Ensembl chr15:344,360...1,047,956
JBrowse link
generalized epilepsy with febrile seizures plus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus ClinVar NCBI chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO
ISS
DNA:missense mutation:cds:p.V1417A (human)
ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus
OMIM:604233 | OMIM:604403 | OMIM:609800 | OMIM:611277 | OMIM:612279 | OMIM:613828 | OMIM:613863
ClinVar
MouseDO
PMID:24337656 PMID:25741868 PMID:26467025 PMID:28492532, PMID:11823106 RGD:1358571 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISS
ISO
OMIM:604233 | OMIM:604403 | OMIM:609800 | OMIM:611277 | OMIM:612279 | OMIM:613828 | OMIM:613863
ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus
MouseDO
ClinVar
PMID:5421039 PMID:9461582 PMID:9539778 PMID:9697698 PMID:9894880 PMID:11254444 PMID:11263970 PMID:11866477 PMID:12011299 PMID:12486163 PMID:14504340 PMID:14690046 PMID:15710580 PMID:15857929 PMID:16205844 PMID:17020904 PMID:17928445 PMID:18941776 PMID:20437590 PMID:20628201 PMID:21994374 PMID:22292491 PMID:22425777 PMID:23527921 PMID:23584539 PMID:24065921 PMID:24567321 PMID:24605816 PMID:24623842 PMID:24747835 PMID:25741868 PMID:25827112 PMID:26467025 PMID:27216889 PMID:27277800 PMID:28331474 PMID:28492532 PMID:206282012 NCBI chr 1:89,550,738...89,560,469
Ensembl chr 1:89,550,738...89,560,719
JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus ClinVar PMID:21698661 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:52,583,953...52,664,209
Ensembl chr 3:52,583,951...52,664,209
JBrowse link
G Slc32a1 solute carrier family 32 member 1 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus ClinVar NCBI chr 3:155,102,980...155,107,815
Ensembl chr 3:155,103,150...155,107,817
JBrowse link
generalized epilepsy with febrile seizures plus 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 1
ClinVar PMID:9126059 PMID:10521305 PMID:10742094 PMID:11254444 PMID:11254445 PMID:11524484 PMID:11567038 PMID:11756608 PMID:12086636 PMID:12576172 PMID:12919402 PMID:14672992 PMID:14702334 PMID:16075041 PMID:16525050 PMID:17507202 PMID:17561957 PMID:18076640 PMID:18413471 PMID:18804930 PMID:18930999 PMID:19464195 PMID:20117752 PMID:20522430 PMID:20550552 PMID:20600615 PMID:20729507 PMID:22780858 PMID:23195492 PMID:25348405 PMID:25576396 PMID:25741868 PMID:26096185 PMID:27066544 PMID:28192756 PMID:28492532 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 1
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:5421039 PMID:9461582 PMID:9539778 PMID:9697698 PMID:9894880 PMID:11254444 PMID:11263970 PMID:11866477 PMID:12011299 PMID:12486163 PMID:14504340 PMID:14690046 PMID:15671291 PMID:15710580 PMID:15857929 PMID:16205844 PMID:17020904 PMID:17604911 PMID:17629415 PMID:17928445 PMID:18941776 PMID:19522081 PMID:19808477 PMID:20226894 PMID:20437590 PMID:20628201 PMID:20662403 PMID:21994374 PMID:22155597 PMID:22155598 PMID:22284586 PMID:22292491 PMID:22425777 PMID:22840528 PMID:23414114 PMID:23465283 PMID:23527921 PMID:23584539 PMID:23861362 PMID:24033266 PMID:24065921 PMID:24529773 PMID:24567321 PMID:24605816 PMID:24623842 PMID:24662403 PMID:24747835 PMID:25253298 PMID:25668026 PMID:25741868 PMID:25827112 PMID:26042039 PMID:26467025 PMID:26498160 PMID:27216889 PMID:27277800 PMID:27435932 PMID:27896052 PMID:28218389 PMID:28331474 PMID:28341588 PMID:28492532 PMID:28837624 PMID:29758173 PMID:31465153 PMID:206282012 NCBI chr 1:89,550,738...89,560,469
Ensembl chr 1:89,550,738...89,560,719
JBrowse link
generalized epilepsy with febrile seizures plus 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 ISO ClinVar Annotator: match by term: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 10 OMIM
ClinVar
PMID:25741868 PMID:29936235 PMID:30351409 NCBI chr 2:50,099,576...50,499,799
Ensembl chr 2:50,099,576...50,499,799
JBrowse link
generalized epilepsy with febrile seizures plus 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO DNA:missense mutations:cds:p.T875M, p.R1648H (human)
ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 2
ClinVar Annotator: match by term: GEFS+, TYPE 2
ClinVar Annotator: match by OMIM:604403
ClinVar
OMIM
PMID:9126059 PMID:10486327 PMID:10521305 PMID:10742094 PMID:11118488 PMID:11254444 PMID:11254445 PMID:11359211 PMID:11524484 PMID:11567038 PMID:11756608 PMID:12083760 PMID:12086636 PMID:12566275 PMID:12576172 PMID:12610651 PMID:12754708 PMID:12821740 PMID:14504318 PMID:14702334 PMID:14738421 PMID:15277629 PMID:15508916 PMID:16075041 PMID:16199547 PMID:16326807 PMID:16458823 PMID:16505326 PMID:16541393 PMID:16713913 PMID:16713920 PMID:17054684 PMID:17166794 PMID:17347258 PMID:17561957 PMID:17903680 PMID:18021921 PMID:18056581 PMID:18413471 PMID:18414213 PMID:18804930 PMID:18930999 PMID:19236456 PMID:19359143 PMID:19522081 PMID:19589774 PMID:19673951 PMID:20100831 PMID:20301494 PMID:20431604 PMID:20522430 PMID:20550552 PMID:20729507 PMID:20831750 PMID:20879882 PMID:21248271 PMID:21371021 PMID:21396429 PMID:21713554 PMID:21719429 PMID:21864321 PMID:22011963 PMID:22071555 PMID:22150645 PMID:22151702 PMID:22409937 PMID:22550089 PMID:22612257 PMID:22780858 PMID:22848613 PMID:23195492 PMID:23398550 PMID:23398611 PMID:23527921 PMID:23808377 PMID:23884151 PMID:23934111 PMID:24066114 PMID:24136861 PMID:24168886 PMID:24328833 PMID:24337656 PMID:24464349 PMID:25348405 PMID:25378155 PMID:25741868 PMID:26096185 PMID:26188943 PMID:26467025 PMID:26845707 PMID:26990884 PMID:27231140 PMID:27236449 PMID:27267376 PMID:27465585 PMID:27781031 PMID:27864847 PMID:28148630 PMID:28192756 PMID:28492532 PMID:29100083 PMID:29358611 PMID:29739726 PMID:29760947 PMID:30525188 PMID:30619928 PMID:30659983 PMID:32238909 PMID:32581362, PMID:10742094 RGD:727292 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
JBrowse link
generalized epilepsy with febrile seizures plus 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 7
ClinVar Annotator: match by term: GEFS+, TYPE 7
OMIM
ClinVar
PMID:10514109 PMID:10852559 PMID:10852560 PMID:14985375 PMID:15385606 PMID:15955112 PMID:17470132 PMID:18347287 PMID:18414213 PMID:19304393 PMID:19549232 PMID:19763161 PMID:20301342 PMID:22604722 PMID:23129781 PMID:25250524 PMID:25741868 PMID:25993546 PMID:26467025 PMID:26920677 PMID:27504264 PMID:28492532 PMID:29176367 PMID:29911575 PMID:30642272 PMID:31372899 PMID:32581362 NCBI chr 3:52,583,953...52,664,209
Ensembl chr 3:52,583,951...52,664,209
JBrowse link
generalized epilepsy with febrile seizures plus 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stx1b syntaxin 1B ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 ClinVar
OMIM
PMID:11591834 PMID:18479394 PMID:25362483 PMID:25741868 PMID:26467025 PMID:26818399 PMID:28492532 PMID:30737342 NCBI chr 1:199,251,842...199,270,465
Ensembl chr 1:199,251,844...199,270,627
JBrowse link
G Stx4 syntaxin 4 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 ClinVar PMID:25362483 PMID:26818399 PMID:28492532 NCBI chr 1:199,287,384...199,295,606
Ensembl chr 1:199,287,710...199,294,979
JBrowse link
G Zfp668 zinc finger protein 668 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 ClinVar PMID:25362483 PMID:26818399 PMID:28492532 NCBI chr 1:199,310,935...199,321,231
Ensembl chr 1:199,310,935...199,320,727
JBrowse link
Generalized Epilepsy with Febrile Seizures Plus, Type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO ClinVar Annotator: match by term: GEFS+, TYPE 3 ClinVar PMID:23708187 PMID:25726841 PMID:25730860 PMID:27864268 PMID:28492532 PMID:29100083 PMID:29358611 NCBI chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900
JBrowse link
Generalized Epilepsy with Febrile Seizures Plus, Type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabrd gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus type 5 ClinVar PMID:15115768 PMID:16023832 PMID:16256272 PMID:16452673 PMID:17559416 PMID:23216579 PMID:26467025 PMID:28383543 PMID:28492532 NCBI chr 5:172,797,478...172,809,374
Ensembl chr 5:172,797,450...172,809,353
JBrowse link
idiopathic generalized epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca3 ATP binding cassette subfamily A member 3 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:13,723,365...13,780,558
Ensembl chr10:13,723,405...13,779,963
JBrowse link
G Ankrd65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:173,237,642...173,239,899
Ensembl chr 5:173,237,642...173,239,899
JBrowse link
G Antkmt adenine nucleotide translocase lysine methyltransferase ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:15,160,037...15,161,895
Ensembl chr10:15,159,803...15,161,938
JBrowse link
G Atad3a ATPase family, AAA domain containing 3A ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:173,189,590...173,209,809
Ensembl chr 5:173,189,592...173,209,768
JBrowse link
G Aurkaip1 aurora kinase A interacting protein 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:173,274,433...173,276,170
Ensembl chr 5:173,256,637...173,276,169
JBrowse link
G Baiap3 BAI1-associated protein 3 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,601,133...14,613,881
Ensembl chr10:14,599,197...14,613,878
JBrowse link
G Bricd5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:13,839,599...13,841,132
Ensembl chr10:13,839,956...13,841,018
JBrowse link
G Cacna1h calcium voltage-gated channel subunit alpha1 H ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:12891677 PMID:14729682 PMID:15048902 PMID:15852375 PMID:15888660 PMID:16754686 PMID:17696120 PMID:21703448 PMID:23757202 PMID:24277868 PMID:24972929 PMID:25741868 PMID:25773295 PMID:25907736 PMID:26467025 PMID:26706850 PMID:27066544 PMID:27148582 PMID:27331657 PMID:27729216 PMID:28492532 PMID:28842445 PMID:29588962 PMID:29924869 PMID:29948376 PMID:31070086 PMID:31139143 NCBI chr10:14,730,932...14,789,201
Ensembl chr10:14,730,941...14,788,617
JBrowse link
G Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 ISS OMIM:600669 | OMIM:604827 | OMIM:606972 | OMIM:607628 | OMIM:607682 | OMIM:608762 | OMIM:609750 | OMIM:611136 | OMIM:611934 | OMIM:612899 | OMIM:613060 | OMIM:614847 | OMIM:616685 MouseDO NCBI chr 8:116,154,661...116,285,643
Ensembl chr 8:116,154,736...116,284,985
JBrowse link
G Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:10762541 PMID:18755274 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:37,950,846...38,211,478
Ensembl chr 3:37,955,069...38,090,526
JBrowse link
G Caskin1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:13,853,107...13,874,254
Ensembl chr10:13,854,339...13,874,254
JBrowse link
G Casr calcium-sensing receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
CTD
ClinVar
PMID:25741868 NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
JBrowse link
G Ccdc154 coiled-coil domain containing 154 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,518,240...14,529,920
Ensembl chr10:14,519,164...14,528,277
JBrowse link
G Ccdc78 coiled-coil domain containing 78 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:15,155,839...15,160,039
Ensembl chr10:15,156,207...15,159,894
JBrowse link
G Ccnf cyclin F ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:13,594,687...13,619,935
Ensembl chr10:13,594,687...13,619,935
JBrowse link
G Ccnl2 cyclin L2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:173,256,301...173,268,279
Ensembl chr 5:173,256,637...173,276,169
JBrowse link
G Cdk11b cyclin-dependent kinase 11B ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:173,051,900...173,078,049
Ensembl chr 5:173,052,063...173,078,046
JBrowse link
G Cfap74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:172,817,221...172,884,996
Ensembl chr 5:172,825,072...172,858,053
JBrowse link
G Chtf18 chromosome transmission fidelity factor 18 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:15,090,762...15,098,825
Ensembl chr10:15,090,316...15,098,791
JBrowse link
G Ciao3 cytosolic iron-sulfur assembly component 3 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:15,143,732...15,152,706
Ensembl chr10:15,143,713...15,153,396
JBrowse link
G Cilk1 ciliogenesis associated kinase 1 ISO ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 10 ClinVar PMID:29539279 NCBI chr 8:85,413,998...85,473,374
Ensembl chr 8:85,413,537...85,472,694
JBrowse link
G Clcn2 chloride voltage-gated channel 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:82,862,664...82,876,165
Ensembl chr11:83,883,879...83,897,394
JBrowse link
G Clcn7 chloride voltage-gated channel 7 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,492,844...14,518,167
Ensembl chr10:14,492,844...14,516,894
JBrowse link
G Cptp ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:173,314,219...173,318,384
Ensembl chr 5:173,314,228...173,318,313
JBrowse link
G Cramp1 cramped chromatin regulator homolog 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,324,799...14,373,413
Ensembl chr10:14,326,802...14,373,334
JBrowse link
G Dnase1l2 deoxyribonuclease 1 like 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:13,812,335...13,814,514
Ensembl chr10:13,812,707...13,814,304
JBrowse link
G Dnm1 dynamin 1 ISS OMIM:600669 | OMIM:604827 | OMIM:606972 | OMIM:607628 | OMIM:607682 | OMIM:608762 | OMIM:609750 | OMIM:611136 | OMIM:611934 | OMIM:612899 | OMIM:613060 | OMIM:614847 | OMIM:616685 MouseDO NCBI chr 3:11,338,081...11,382,043
Ensembl chr 3:11,338,083...11,382,043
JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:173,295,948...173,308,014
Ensembl chr 5:173,296,270...173,307,945
JBrowse link
G E4f1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:13,812,335...13,835,847
Ensembl chr10:13,815,293...13,826,945
JBrowse link
G Eci1 enoyl-CoA delta isomerase 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:13,797,573...13,810,918
Ensembl chr10:13,797,562...13,810,913
JBrowse link
G Eme2 essential meiotic structure-specific endonuclease subunit 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,253,552...14,257,017
Ensembl chr10:14,254,252...14,256,930
JBrowse link
G Fahd1 fumarylacetoacetate hydrolase domain containing 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,214,518...14,215,957
Ensembl chr10:14,214,519...14,215,957
JBrowse link
G Fbxl16 F-box and leucine-rich repeat protein 16 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:15,176,489...15,188,729
Ensembl chr10:15,183,803...15,186,978
JBrowse link
G Fndc10 fibronectin type III domain containing 10 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:173,139,345...173,141,564 JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 ISO
ISS
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
OMIM:600669 | OMIM:604827 | OMIM:606972 | OMIM:607628 | OMIM:607682 | OMIM:608762 | OMIM:609750 | OMIM:611136 | OMIM:611934 | OMIM:612899 | OMIM:613060 | OMIM:614847 | OMIM:616685
ClinVar
MouseDO
PMID:16530959 PMID:16569738 PMID:16718694 PMID:18414213 PMID:22190369 PMID:24623842 PMID:24811917 PMID:25741868 PMID:26467025 PMID:26918889 PMID:27353043 PMID:27521439 PMID:27622563 PMID:28251550 PMID:28492532 PMID:28864462 PMID:29186148 PMID:29655203 PMID:32238909 NCBI chr10:27,310,718...27,371,802
Ensembl chr10:27,310,725...27,366,665
JBrowse link
G Gabra6 gamma-aminobutyric acid type A receptor subunit alpha6 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:22190369 PMID:24811917 PMID:28492532 NCBI chr10:27,847,447...27,862,896
Ensembl chr10:27,847,439...27,862,868
JBrowse link
G Gabrb2 gamma-aminobutyric acid type A receptor subunit beta 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:22190369 PMID:24811917 PMID:28492532 NCBI chr10:27,973,694...28,193,072
Ensembl chr10:27,973,681...28,187,565
JBrowse link
G Gabrd gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:15115768 PMID:16023832 PMID:16256272 PMID:16452673 PMID:17559416 PMID:20352446 PMID:23216579 PMID:24249596 PMID:25741868 PMID:26467025 PMID:28383543 PMID:28492532 NCBI chr 5:172,797,478...172,809,374
Ensembl chr 5:172,797,450...172,809,353
JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:22190369 PMID:24811917 PMID:28492532 NCBI chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900
JBrowse link
G Gfer growth factor, augmenter of liver regeneration ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,059,347...14,061,703
Ensembl chr10:14,059,347...14,061,703
JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:172,914,025...172,981,403
Ensembl chr 5:172,934,990...172,979,986
JBrowse link
G Gng13 G protein subunit gamma 13 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:15,088,935...15,090,839
Ensembl chr10:15,088,935...15,090,839
JBrowse link
G Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,593,050...14,597,995
Ensembl chr10:14,593,056...14,597,969
JBrowse link
G Hagh hydroxyacyl glutathione hydrolase ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,215,913...14,230,506
Ensembl chr10:14,216,155...14,230,515
JBrowse link
G Haghl hydroxyacylglutathione hydrolase-like ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:15,152,736...15,157,221
Ensembl chr10:15,152,709...15,155,412
JBrowse link
G Hs3st6 heparan sulfate-glucosamine 3-sulfotransferase 6 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,122,856...14,128,984
Ensembl chr10:14,122,878...14,128,983
JBrowse link
G Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,373,668...14,461,509
Ensembl chr10:14,373,679...14,461,160
JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,240,308...14,243,554
Ensembl chr10:14,240,219...14,243,597
JBrowse link
G Ints11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:173,318,435...173,336,930
Ensembl chr 5:173,318,479...173,336,930
JBrowse link
G Jmjd8 jumonji domain containing 8 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:15,195,954...15,198,870
Ensembl chr10:15,195,969...15,198,868
JBrowse link
G Jpt2 Jupiter microtubule associated homolog 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,304,108...14,324,170
Ensembl chr10:14,304,104...14,324,211
JBrowse link
G Lmf1 lipase maturation factor 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,945,185...15,031,855
Ensembl chr10:14,945,265...15,031,942
JBrowse link
G Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,259,394...14,299,276
Ensembl chr10:14,260,787...14,299,167
JBrowse link
G Mcrip2 MAPK regulated co-repressor interacting protein 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:15,230,801...15,235,740
Ensembl chr10:15,230,801...15,235,740
JBrowse link
G Meiob meiosis specific with OB-fold ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,174,645...14,206,026
Ensembl chr10:14,174,732...14,206,025
JBrowse link
G Metrn meteorin, glial cell differentiation regulator ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:15,164,439...15,166,457
Ensembl chr10:15,164,439...15,166,457
JBrowse link
G Mettl26 methyltransferase like 26 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:15,239,753...15,255,054
Ensembl chr10:15,241,590...15,252,413
JBrowse link
G Mib2 MIB E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:173,082,943...173,099,353
Ensembl chr 5:173,082,943...173,098,816
JBrowse link
G Mlst8 MTOR associated protein, LST8 homolog ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:13,839,250...13,845,001
Ensembl chr10:13,839,250...13,845,001
JBrowse link
G Mmp23 matrix metallopeptidase 23 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:173,078,811...173,082,834
Ensembl chr 5:173,078,590...173,081,839
JBrowse link
G Mrpl20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:173,248,245...173,252,775
Ensembl chr 5:173,248,245...173,252,775
JBrowse link
G Mrps34 mitochondrial ribosomal protein S34 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,257,001...14,258,132
Ensembl chr10:14,257,001...14,258,132
JBrowse link
G Msln mesothelin ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:15,119,700...15,129,129
Ensembl chr10:15,119,663...15,125,408
JBrowse link
G Msrb1 methionine sulfoxide reductase B1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,105,750...14,111,463
Ensembl chr10:14,105,750...14,111,463
JBrowse link
G Mxra8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:173,288,200...173,292,926
Ensembl chr 5:173,288,447...173,292,929
JBrowse link
G Nadk NAD kinase ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:172,984,930...173,015,505
Ensembl chr 5:172,986,291...173,015,494
JBrowse link
G Ndufb10 NADH:ubiquinone oxidoreductase subunit B10 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,090,128...14,092,289
Ensembl chr10:14,090,128...14,092,289
JBrowse link
G Nme3 NME/NM23 nucleoside diphosphate kinase 3 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,258,232...14,259,365
Ensembl chr10:14,258,380...14,259,336
JBrowse link
G Noxo1 NADPH oxidase organizer 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,062,331...14,066,918
Ensembl chr10:14,062,331...14,066,918
JBrowse link
G Npw neuropeptide W ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,021,187...14,022,452
Ensembl chr10:14,021,187...14,022,452
JBrowse link
G Nthl1 nth-like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:13,996,660...14,002,827
Ensembl chr10:13,996,645...14,002,910
JBrowse link
G Ntn3 netrin 3 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:13,577,725...13,580,821
Ensembl chr10:13,577,725...13,580,821
JBrowse link
G Nubp2 nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,244,201...14,247,930
Ensembl chr10:14,244,203...14,247,886
JBrowse link
G Pgp phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:13,836,105...13,838,731
Ensembl chr10:13,836,128...13,838,765
JBrowse link
G Pigq phosphatidylinositol glycan anchor biosynthesis, class Q ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:15,289,530...15,305,593
Ensembl chr10:15,289,536...15,305,549
JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:13,914,057...13,962,008
Ensembl chr10:13,915,214...13,962,008
JBrowse link
G Ptx4 pentraxin 4 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,481,044...14,486,277
Ensembl chr10:14,481,393...14,485,916
JBrowse link
G Rab26 RAB26, member RAS oncogene family ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:13,894,271...13,898,578
Ensembl chr10:13,893,290...13,898,855
JBrowse link
G Rab40c Rab40c, member RAS oncogene family ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:15,247,913...15,283,111
Ensembl chr10:15,247,914...15,282,951
JBrowse link
G Rbfox1 RNA binding fox-1 homolog 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:23286373 PMID:25741868 PMID:26467025 PMID:28346479 PMID:28492532 PMID:29358611 NCBI chr10:8,312,961...10,437,778
Ensembl chr10:8,312,961...8,654,892
JBrowse link
G Rbfox3 RNA binding fox-1 homolog 3 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:25741868 PMID:28492532 NCBI chr10:107,517,916...107,850,764
Ensembl chr10:107,516,995...107,539,658
JBrowse link
G RGD1565784 RGD1565784 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,543,196...14,544,498
Ensembl chr10:14,543,200...14,545,000
JBrowse link
G Rhbdl1 rhomboid like 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:15,201,503...15,205,856
Ensembl chr10:15,201,503...15,204,143
JBrowse link
G Rhot2 ras homolog family member T2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:15,205,943...15,211,739
Ensembl chr10:15,205,534...15,211,325
JBrowse link
G Rnf151 ring finger protein 151 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,083,538...14,088,011
Ensembl chr10:14,083,538...14,085,855
JBrowse link
G Rnps1 RNA binding protein with serine rich domain 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:13,786,339...13,796,720
Ensembl chr10:13,786,459...13,796,717
JBrowse link
G Rpl3l ribosomal protein L3-like ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,094,769...14,105,312
Ensembl chr10:14,094,754...14,105,308
JBrowse link
G Rps2 ribosomal protein S2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,088,171...14,090,020
Ensembl chr10:14,088,319...14,089,979
JBrowse link
G Rpusd1 RNA pseudouridine synthase domain containing 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:15,099,104...15,102,968
Ensembl chr10:15,099,009...15,102,960
JBrowse link
G Slc12a5 solute carrier family 12 member 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:161,433,303...161,465,078
Ensembl chr 3:161,425,988...161,462,879
JBrowse link
G Slc35e2b solute carrier family 35, member E2B ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:173,024,335...173,050,228
Ensembl chr 5:173,024,335...173,046,194
JBrowse link
G Slc9a3r2 SLC9A3 regulator 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,003,330...14,015,066
Ensembl chr10:14,003,320...14,013,870
JBrowse link
G Sox8 SRY-box transcription factor 8 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,932,348...14,937,336
Ensembl chr10:14,932,348...14,937,336
JBrowse link
G Spsb3 splA/ryanodine receptor domain and SOCS box containing 3 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,248,199...14,253,815
Ensembl chr10:14,248,399...14,253,815
JBrowse link
G Sstr5 somatostatin receptor 5 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,847,749...14,853,827
Ensembl chr10:14,847,749...14,853,827
JBrowse link
G Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:173,152,964...173,182,720
Ensembl chr 5:173,152,964...173,182,719
JBrowse link
G Stub1 STIP1 homology and U-box containing protein 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:15,197,754...15,200,035
Ensembl chr10:15,197,803...15,200,117
JBrowse link
G Syngr3 synaptogyrin 3 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,051,413...14,056,169
Ensembl chr10:14,051,415...14,056,169
JBrowse link
G Tas1r3 taste 1 receptor member 3 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:173,307,325...173,312,950
Ensembl chr 5:173,308,870...173,312,023
JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
JBrowse link
G Tbl3 transducin (beta)-like 3 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,066,984...14,072,197
Ensembl chr10:14,066,948...14,072,230
JBrowse link
G Tedc2 tubulin epsilon and delta complex 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:13,586,852...13,591,938
Ensembl chr10:13,586,648...13,591,953
JBrowse link
G Telo2 telomere maintenance 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,461,581...14,476,812
Ensembl chr10:14,461,839...14,476,785
JBrowse link
G Tmem204 transmembrane protein 204 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,417,608...14,446,272
Ensembl chr10:14,417,609...14,443,010
JBrowse link
G Tmem240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:173,182,815...173,189,683
Ensembl chr 5:173,183,990...173,188,924
JBrowse link
G Tmem52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:172,887,587...172,889,349
Ensembl chr 5:172,887,217...172,889,383
JBrowse link
G Tmem88b transmembrane protein 88B ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:173,230,364...173,233,188
Ensembl chr 5:173,230,364...173,233,188
JBrowse link
G Tpsab1 tryptase alpha/beta 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,701,253...14,703,668
Ensembl chr10:14,701,253...14,703,668
JBrowse link
G Tpsb2 tryptase beta 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,722,672...14,724,464
Ensembl chr10:14,722,756...14,724,600
JBrowse link
G Tpsg1 tryptase gamma 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,724,531...14,731,259
Ensembl chr10:14,727,180...14,731,086
JBrowse link
G Traf7 TNF receptor associated factor 7 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:13,874,444...13,893,090
Ensembl chr10:13,874,456...13,892,997
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
JBrowse link
G Tsr3 TSR3 ribosome maturation factor ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,598,014...14,600,576
Ensembl chr10:14,598,014...14,600,576
JBrowse link
G Ube2i ubiquitin-conjugating enzyme E2I ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,618,615...14,639,274
Ensembl chr10:14,620,531...14,630,151
JBrowse link
G Unkl unk like zinc finger ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,547,126...14,593,090
Ensembl chr10:14,547,172...14,590,762
JBrowse link
G Vwa1 von Willebrand factor A domain containing 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:173,216,737...173,221,923
Ensembl chr 5:173,216,741...173,222,440
JBrowse link
G Wdr24 WD repeat domain 24 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:15,191,078...15,195,860
Ensembl chr10:15,191,078...15,195,860
JBrowse link
G Wdr90 WD repeat domain 90 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:15,211,660...15,229,477
Ensembl chr10:15,211,960...15,228,235
JBrowse link
G Wfikkn1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:15,243,429...15,245,757
Ensembl chr10:15,243,429...15,245,757
JBrowse link
G Zfp598 zinc finger protein 598 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,035,114...14,047,100
Ensembl chr10:14,035,149...14,047,096
JBrowse link
idiopathic generalized epilepsy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabrd gamma-aminobutyric acid type A receptor subunit delta susceptibility ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized 10
ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10
ClinVar
OMIM
PMID:15115768 PMID:16023832 PMID:16256272 PMID:16452673 PMID:17559416 PMID:23216579 PMID:25194483 PMID:25741868 PMID:26467025 PMID:28383543 PMID:28492532 NCBI chr 5:172,797,478...172,809,374
Ensembl chr 5:172,797,450...172,809,353
JBrowse link
idiopathic generalized epilepsy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn2 chloride voltage-gated channel 2 susceptibility ISO ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11
ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8
ClinVar
OMIM
PMID:12612585 PMID:15252188 PMID:15505175 PMID:16932951 PMID:17567819 PMID:19191339 PMID:19710712 PMID:21703448 PMID:25741868 NCBI chr11:82,862,664...82,876,165
Ensembl chr11:83,883,879...83,897,394
JBrowse link
idiopathic generalized epilepsy 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc2a1 solute carrier family 2 member 1 susceptibility ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 12 ClinVar
OMIM
PMID:10980529 PMID:11477212 PMID:16949238 PMID:17052934 PMID:19798636 PMID:20417043 PMID:21069159 PMID:21135204 PMID:21555602 PMID:22282645 PMID:23280796 PMID:23340081 PMID:23448551 PMID:25487684 PMID:25741868 PMID:25982116 PMID:28492532 PMID:28717674 NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
JBrowse link
idiopathic generalized epilepsy 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 susceptibility ISO ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 ClinVar
OMIM
PMID:11992121 PMID:16530959 PMID:16569738 PMID:18414213 PMID:18534981 PMID:20551311 PMID:21714819 PMID:24623842 PMID:25741868 PMID:26467025 PMID:26918889 PMID:27521439 PMID:28251550 PMID:28492532 NCBI chr10:27,310,718...27,371,802
Ensembl chr10:27,310,725...27,366,665
JBrowse link
idiopathic generalized epilepsy 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc12a5 solute carrier family 12 member 5 susceptibility ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 14 ClinVar
OMIM
PMID:24668262 PMID:24928908 PMID:25741868 PMID:27535533 PMID:28492532 NCBI chr 3:161,433,303...161,465,078
Ensembl chr 3:161,425,988...161,462,879
JBrowse link
idiopathic generalized epilepsy 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rorb RAR-related orphan receptor B susceptibility ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 15 ClinVar
OMIM
PMID:25356972 PMID:25741868 PMID:27352968 NCBI chr 1:234,252,757...234,442,597
Ensembl chr 1:234,252,757...234,435,839
JBrowse link
Idiopathic Generalized Epilepsy 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 susceptibility ISO ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 16 OMIM
ClinVar
PMID:25741868 NCBI chr15:344,204...1,048,849
Ensembl chr15:344,360...1,047,956
JBrowse link
idiopathic generalized epilepsy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized 7 ClinVar PMID:25326635 PMID:25741868 NCBI chr 1:123,897,341...124,039,263
Ensembl chr 1:123,899,657...124,039,196
JBrowse link
idiopathic generalized epilepsy 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium-sensing receptor susceptibility ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized 8 ClinVar
OMIM
PMID:18756473 PMID:20798521 PMID:28492532 NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
JBrowse link
idiopathic generalized epilepsy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 susceptibility ISO ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6
ClinVar Annotator: match by term: Epilepsy, idiopathic generalized 9
ClinVar
OMIM
PMID:10762541 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:37,950,846...38,211,478
Ensembl chr 3:37,955,069...38,090,526
JBrowse link
infantile or early childhood epileptic encephalopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp3ca protein phosphatase 3 catalytic subunit alpha ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1
ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood 1
ClinVar
OMIM
PMID:8052858 PMID:8524402 PMID:25262651 PMID:25741868 PMID:28942967 PMID:29432562 PMID:32238909 NCBI chr 2:241,909,332...242,186,861
Ensembl chr 2:241,909,832...242,184,854
JBrowse link
infantile or early childhood epileptic encephalopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabrb2 gamma-aminobutyric acid type A receptor subunit beta 2 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2
ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood 2
ClinVar
OMIM
PMID:25124326 PMID:25741868 PMID:27789573 PMID:28492532 PMID:29100083 NCBI chr10:27,973,694...28,193,072
Ensembl chr10:27,973,681...28,187,565
JBrowse link
Infantile or Early Childhood Epileptic Encephalopathy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1a ATPase H+ transporting V1 subunit A ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3
ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood 3
ClinVar
OMIM
PMID:23334411 PMID:25741868 PMID:29668857 NCBI chr11:61,531,386...61,584,634
Ensembl chr11:61,531,416...61,584,634
JBrowse link
juvenile absence epilepsy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Efhc1 EF-hand domain containing 1 susceptibility ISO ClinVar Annotator: match by term: Epilepsy, juvenile absence, susceptibility to, 1 OMIM
ClinVar
PMID:17159113 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 9:27,068,505...27,107,713
Ensembl chr 9:27,068,443...27,107,709
JBrowse link
Myoclonic-Atonic Epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc6a1 solute carrier family 6 member 1 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy OMIM
ClinVar
PMID:18414213 PMID:22495306 PMID:24859339 PMID:25741868 PMID:25865495 PMID:26467025 PMID:27541642 PMID:28492532 PMID:28708303 PMID:28856709 PMID:29315614 PMID:32581362 NCBI chr 4:146,258,842...146,292,176
Ensembl chr 4:146,276,862...146,292,213
JBrowse link
Norrie disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fzd4 frizzled class receptor 4 ISS
ISO
OMIM:310600
ClinVar Annotator: match by term: Atrophia bulborum hereditaria
MouseDO
ClinVar
PMID:14507768 PMID:15035989 PMID:20340138 PMID:20938005 PMID:24033266 PMID:24744206 PMID:25711638 PMID:25741868 PMID:26908610 PMID:27316669 NCBI chr 1:153,589,471...153,598,376
Ensembl chr 1:153,589,471...153,598,375
JBrowse link
G Ndp norrin cystine knot growth factor NDP ISO ClinVar Annotator: match by term: Norrie Disease
ClinVar Annotator: match by OMIM:310600
OMIM
ClinVar
PMID:1303264 PMID:1307245 PMID:7814011 PMID:8069314 PMID:8240113 PMID:8268931 PMID:8790105 PMID:8990009 PMID:9143918 PMID:9382152 PMID:10484772 PMID:15776010 PMID:17334993 PMID:22563645 NCBI chr  X:6,791,090...6,815,586
Ensembl chr  X:6,791,136...6,815,583
Ensembl chr  X:6,791,136...6,815,583
JBrowse link
G Prss23 serine protease 23 ISO ClinVar Annotator: match by term: Atrophia bulborum hereditaria ClinVar PMID:14507768 PMID:15035989 PMID:20340138 PMID:20938005 PMID:24033266 PMID:24744206 PMID:25711638 PMID:25741868 PMID:26908610 PMID:27316669 NCBI chr 1:153,732,528...153,742,111
Ensembl chr 1:153,732,532...153,752,541
JBrowse link
G Tspan12 tetraspanin 12 ISO ClinVar Annotator: match by term: Atrophia bulborum hereditaria ClinVar PMID:25250762 NCBI chr 4:48,852,823...48,953,240
Ensembl chr 4:48,852,827...48,928,372
JBrowse link
PEHO syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc88a coiled coil domain containing 88A ISO ClinVar Annotator: match by term: Peho-like syndrome ClinVar PMID:26917597 NCBI chr14:113,771,093...113,936,376
Ensembl chr14:113,867,209...113,932,263
JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:decreased expression:cerebrospinal fluid: RGD PMID:11701291 RGD:8548849 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: PEHO syndrome ClinVar PMID:21376300 PMID:25253658 PMID:25265257 PMID:25741868 PMID:26125038 PMID:26486474 PMID:28492532 PMID:31805580 NCBI chr 9:100,171,851...100,253,626
Ensembl chr 9:100,171,772...100,253,609
JBrowse link
G Znhit3 zinc finger, HIT-type containing 3 ISO ClinVar Annotator: match by term: PEHO syndrome OMIM
ClinVar
PMID:25741868 PMID:28335020 PMID:31048081 NCBI chr10:72,227,710...72,235,932
Ensembl chr10:72,228,222...72,235,888
JBrowse link
West syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase treatment IMP RGD PMID:24321005 RGD:9588540 NCBI chr10:7,093,406...7,200,439
Ensembl chr10:7,093,405...7,200,499
JBrowse link
G Arx aristaless related homeobox ISO RGD PMID:19439424 RGD:11565833 NCBI chr  X:62,363,757...62,376,139
Ensembl chr  X:62,363,757...62,376,143
JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: West syndrome
ClinVar Annotator: match by term: Infantile spasms
ClinVar PMID:16813600 PMID:18414213 PMID:18790821 PMID:21775177 PMID:22867051 PMID:24500651 PMID:25741868 PMID:28492532 NCBI chr  X:35,536,396...35,773,204
Ensembl chr  X:35,599,258...35,771,711
JBrowse link
G Cfl1 cofilin 1 IEP protein:decreased expression:brain (rat) RGD PMID:24994451 RGD:11570411 NCBI chr 1:220,869,805...220,873,337
Ensembl chr 1:220,869,805...220,873,337
JBrowse link
G Crh corticotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:11341487 NCBI chr 2:104,459,999...104,461,863
Ensembl chr 2:104,459,999...104,461,863
JBrowse link
G Gad1 glutamate decarboxylase 1 ISO ClinVar Annotator: match by term: Infantile spasms ClinVar PMID:22662185 NCBI chr 3:56,861,440...56,902,139
Ensembl chr 3:56,861,396...56,902,157
JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16919904 NCBI chr18:44,810,462...44,897,677
Ensembl chr18:44,810,388...44,897,640
JBrowse link
G Mc2r melanocortin 2 receptor ISO DNA:snps:promoter:multiple (human) RGD PMID:19024088 RGD:6484693 NCBI chr18:64,166,959...64,178,729
Ensembl chr18:64,167,191...64,177,729
JBrowse link
G Pik3ap1 phosphoinositide-3-kinase adaptor protein 1 ISO ClinVar Annotator: match by term: Infantile spasms ClinVar PMID:25262651 PMID:28492532 NCBI chr 1:260,527,344...260,679,132
Ensembl chr 1:260,527,781...260,638,915
JBrowse link
G Plcb1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Recessive ClinVar PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:127,721,244...128,419,565
Ensembl chr 3:128,155,069...128,419,545
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:1324751 PMID:1327015 PMID:1656808 PMID:1965992 PMID:2551692 PMID:2554740 PMID:2853496 PMID:2983143 PMID:6107850 PMID:6143199 PMID:6254450 PMID:6259007 PMID:8381257 PMID:8928979 PMID:8980841 PMID:10908253 PMID:11341487 PMID:17287597 PMID:19039989 PMID:20078871 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
G Ralgapa1 Ral GTPase activating protein catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Infantile spasms ClinVar PMID:32004447 NCBI chr 6:76,386,971...76,661,530
Ensembl chr 6:76,396,784...76,608,864
JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: West syndrome ClinVar PMID:16813600 PMID:18414213 PMID:21775177 PMID:22867051 PMID:25741868 PMID:28492532 NCBI chr  X:35,749,957...35,777,243
Ensembl chr  X:35,749,957...35,777,243
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: West syndrome ClinVar PMID:14504318 PMID:18804930 PMID:25348405 PMID:25741868 PMID:28492532 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant
ClinVar Annotator: match by term: Infantile spasms
ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:51,687,910...51,822,008
Ensembl chr 3:51,687,809...51,822,250
JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant ClinVar NCBI chr 7:142,575,629...142,683,659
Ensembl chr 7:142,575,672...142,684,114
JBrowse link
G Slc25a22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Recessive ClinVar PMID:28492532 NCBI chr 1:214,410,388...214,418,236
Ensembl chr 1:214,410,417...214,414,897
JBrowse link
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant ClinVar PMID:28492532 NCBI chr 3:8,534,437...8,599,259
Ensembl chr 3:8,534,440...8,599,260
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO DNA:missense mutations, nonsense mutation, splice-site mutations:exon, intron:multiple
ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant
ClinVar PMID:23409955 RGD:12903963 NCBI chr 3:11,823,779...11,885,479
Ensembl chr 3:11,823,785...11,885,417
JBrowse link
G Tsc1 TSC complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18345974 NCBI chr 3:7,219,955...7,269,063
Ensembl chr 3:7,237,192...7,265,145
JBrowse link
G Tsc2 TSC complex subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18345974 NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
JBrowse link
G Upb1 beta-ureidopropionase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18853477 NCBI chr20:14,167,383...14,193,724
Ensembl chr20:14,167,586...14,193,690
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      nervous system disease 10977
        central nervous system disease 9099
          brain disease 8407
            epilepsy 1506
              Generalized Epilepsy 359
                Generalized Epilepsy and Paroxysmal Dyskinesia 1
                Myoclonic-Atonic Epilepsy 1
                Nodding Syndrome 0
                Photoparoxysmal Response 2 0
                West syndrome + 32
                childhood absence epilepsy + 37
                epilepsy with generalized tonic-clonic seizures + 24
                generalized epilepsy with febrile seizures plus + 10
                idiopathic generalized epilepsy + 248
paths to the root