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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 Aldob aldolase, fructose-bisphosphate B ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:1856829, PMID:2336380, PMID:8541450, PMID:11757579, PMID:12205126, PMID:12417303, PMID:15880727, PMID:18541450, PMID:19768653, PMID:20033295, PMID:20882353, PMID:23430936, PMID:28492532, PMID:30311386 NCBI chr 5:64,805,772...64,818,813
Ensembl chr 5:64,805,773...64,818,824
JBrowse link
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:2842249, PMID:8496742, PMID:11020638, PMID:15260953, PMID:16632466, PMID:19652145, PMID:22534615, PMID:22842232, PMID:22850527, PMID:22924536, PMID:22933743, PMID:23409136, PMID:23483595, PMID:24088041, PMID:24100174, PMID:24123283, PMID:24431296, PMID:24436111, PMID:24468074, PMID:24631656, PMID:24739246, PMID:24842602, PMID:24996492, PMID:25359261, PMID:25523819, PMID:25656163, PMID:25681536, PMID:25741868, PMID:25895915, PMID:25996915, PMID:26297560, PMID:26400718, PMID:26410222, PMID:26633545, PMID:27091223, PMID:28293679, PMID:28492532, PMID:29184165, PMID:30311386, 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 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, PMID:30311386 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:9872317, PMID:25262651, 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 Glyctk glycerate kinase ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:30311386 NCBI chr 8:114,846,210...114,853,374
Ensembl chr 8:114,848,084...114,853,103
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 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 Nrxn1 neurexin 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:30311386 NCBI chr 6:13,886,757...15,191,660
Ensembl chr 6:13,886,740...15,191,660
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:32581362 NCBI chr18:29,104,712...29,114,918
Ensembl chr18:29,110,242...29,111,156
JBrowse link
G RGD1563482 similar to hypothetical protein FLJ38663 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 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 Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532, PMID:30311386 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:1330694, PMID:7851890, PMID:8276408, PMID:9384575, PMID:10508160, PMID:16172206, PMID:19344873, PMID:19348700, PMID:19503748, PMID:19854944, PMID:20097179, PMID:21282625, PMID:22495309, PMID:22822064, PMID:24253303, PMID:24463507, PMID:24463508, PMID:24476841, PMID:24670167, PMID:25262651, PMID:25613900, PMID:25741868, PMID:27476654, PMID:27513193, PMID:28492532, PMID:29498452, PMID:30311386 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:30311386, 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:30311386, PMID:30615093 NCBI chr 7:142,575,629...142,683,659
Ensembl chr 7:142,575,672...142,684,114
JBrowse link
G Sgsh N-sulfoglucosamine sulfohydrolase ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:9285796, PMID:9401012, PMID:10601282, PMID:11182930, PMID:15146460, PMID:15542396, PMID:18407553, PMID:21061399, PMID:22976768, PMID:24314109, PMID:25741868, PMID:28492532, PMID:28844463, PMID:30311386, PMID:30809705, PMID:31536183 NCBI chr10:108,469,312...108,479,094 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 Tusc3 tumor suppressor candidate 3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:23806237, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr16:56,248,125...56,396,491
Ensembl chr16:56,247,659...56,396,502
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:30311386 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
G Zeb2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr 3:29,857,289...29,985,932
Ensembl chr 3:29,862,473...29,996,865
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:22985072, PMID:23077016, PMID:23077017, PMID:23077024, PMID:23077026, PMID:23126439, PMID:23180180, PMID:23182655, PMID:23299620, PMID:23343561, PMID:23532549, PMID:23535490, PMID:23768507, PMID:23771590, PMID:24074546, PMID:24370076, PMID:24609974, PMID:24661410, PMID:24755245, PMID:25457817, PMID:25502464, PMID:25522171, PMID:25595153, PMID:25667652, PMID:25741868, PMID:25915028, PMID:26384010, PMID:26446061, PMID:26467025, PMID:26544041, PMID:26561923, PMID:26598493, PMID:26598494, PMID:26621826, PMID:26717662, PMID:26876767, PMID:26993267, PMID:27123484, PMID:28074849, PMID:28492532, PMID:29334453, PMID:30311386 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:30311386, PMID:30578330 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:9126483, PMID:11992121, PMID:16530959, PMID:16569738, PMID:16718694, PMID:20551311, PMID:21714819, PMID:22190369, PMID:23934111, PMID:24623842, PMID:24811917, 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:24999380, PMID:25533962, PMID:25726841, PMID:25741868, PMID:26068938, PMID:26467025, PMID:26645412, PMID:26704558, PMID:26845707, PMID:26950270, PMID:26993267, 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:15955779, PMID:17350655, PMID:22178256, PMID:22495311, PMID:22865819, PMID:23020937, PMID:23708187, PMID:23934111, PMID:24207121, PMID:24614520, PMID:24932903, PMID:25262651, PMID:25284784, PMID:25326635, PMID:25418537, PMID:25672921, PMID:25741868, PMID:25783594, PMID:26467025, PMID:26615199, PMID:26754451, PMID:26795593, PMID:28074849, PMID:28492532, PMID:28960266, 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: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:25356970, PMID:25741868, PMID:26865513, PMID:26993267, PMID:28492532 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
early infantile epileptic encephalopathy 1 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, 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 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:1605226, 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:12379852, 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:19439424, PMID:19507262, PMID:19606478, PMID:19738637, PMID:20148114, PMID:20300201, PMID:20384723, PMID:20506206, PMID:21108397, PMID:21204215, PMID:21204226, PMID:21426321, PMID:21496008, PMID:22252899, PMID:22922607, PMID:23039062, PMID:23246292, PMID:24643514, PMID:24781210, PMID:25044608, PMID:25741868, PMID:26029707, PMID:26337422, PMID:26467025, PMID:27781032, PMID:28150386, PMID:28492532, PMID:29152528, PMID:30255221, 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 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 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 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 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 Gnao1 G protein subunit alpha o1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr19:11,513,201...11,669,578
Ensembl chr19:11,513,201...11,669,578
JBrowse link
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24747641 NCBI chr 2:50,099,576...50,499,799
Ensembl chr 2:50,099,576...50,499,799
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:1377421, PMID:1706481, PMID:8046438, PMID:8158277, PMID:8663992, PMID:8663993, PMID:9525859, PMID:11331357, PMID:12127166, PMID:12214225, PMID:14765197, PMID:15694325, PMID:16002579, PMID:16002581, PMID:16075038, PMID:16704338, PMID:17634333, PMID:20696761, PMID:21044565, PMID:25477152, PMID:25741868, PMID:25751627, PMID:26648591, PMID:27062609, PMID:27117551, PMID:27543892, PMID:27733563, PMID:28019717, PMID:28032718, PMID:28492532 NCBI chr 2:209,838,607...209,852,471
Ensembl chr 2:209,838,869...209,852,471
JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
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 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 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 Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar 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 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 St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr 5:136,765,309...136,965,642
Ensembl chr 5:136,766,208...136,965,191
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 Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome
ClinVar PMID:10574461, PMID:18414213, PMID:20727515, PMID:22277662, PMID:23184456, PMID:23526554, PMID:23806086, PMID:24033266, PMID:24088043, PMID:24291220, PMID:24387994, PMID:24469796, 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:31112829, PMID:31257402 NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
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
early infantile 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: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:30311386, PMID:30776697, 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:29264392, PMID:29655203, PMID:30311386 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 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Tonic-clonic convulsions ClinVar PMID:2842249, PMID:8496742, PMID:11020638, PMID:15260953, PMID:16632466, PMID:19652145, PMID:22534615, PMID:22842232, PMID:22850527, PMID:22924536, PMID:22933743, PMID:23409136, PMID:23483595, PMID:24088041, PMID:24100174, PMID:24123283, PMID:24431296, PMID:24436111, PMID:24468074, PMID:24631656, PMID:24739246, PMID:24842602, PMID:24996492, PMID:25359261, PMID:25523819, PMID:25656163, PMID:25681536, PMID:25741868, PMID:25895915, PMID:25996915, PMID:26297560, PMID:26400718, PMID:26410222, PMID:26633545, PMID:27091223, PMID:28293679, PMID:28492532, PMID:29184165, PMID:30311386, PMID:32581362 NCBI chr 1:81,852,423...81,881,565
Ensembl chr 1:81,852,429...81,881,549
JBrowse link
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 Kcnc1 potassium voltage-gated channel subfamily C member 1 ISO ClinVar Annotator: match by term: Tonic-clonic convulsions ClinVar PMID:30311386 NCBI chr 1:102,414,352...102,456,718
Ensembl chr 1:102,414,625...102,456,411
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 Ptpn23 protein tyrosine phosphatase, non-receptor type 23 ISO ClinVar Annotator: match by term: Tonic-clonic convulsions ClinVar PMID:30311386 NCBI chr 8:118,628,777...118,651,238
Ensembl chr 8:118,628,777...118,651,238
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, PMID:30311386 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 Sox2 SRY-box transcription factor 2 ISO ClinVar Annotator: match by term: Tonic-clonic convulsions ClinVar PMID:30311386 NCBI chr 2:121,165,137...121,167,545
Ensembl chr 2:121,165,137...121,167,545
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: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: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
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: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: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: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: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: GEFS+, TYPE 2
ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, 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:15508915, PMID:15508916, PMID:15880351, PMID:16075041, PMID:16326807, PMID:16430863, 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:19400878, 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:21269283, PMID:21371021, PMID:21396429, PMID:21463290, PMID:21713554, PMID:21864321, PMID:22011963, PMID:22071555, PMID:22150645, PMID:22151702, PMID:22409937, PMID:22550089, PMID:22612257, PMID:22719002, PMID:22780858, PMID:22848613, PMID:23195492, PMID:23398550, PMID:23398611, PMID:23527921, PMID:23808377, PMID:23884151, PMID:23934111, PMID:24066114, PMID:24097157, PMID:24136861, PMID:24168886, PMID:24328833, PMID:24337656, PMID:24464349, PMID:24836964, PMID:25348405, PMID:25378155, PMID:25741868, PMID:26096185, PMID:26188943, PMID:26467025, PMID:26845707, PMID:26990884, PMID:27236449, PMID:27267376, PMID:27465585, PMID:27781031, PMID:27864847, PMID:28148630, PMID:28192756, PMID:28492532, PMID:29100083, PMID:29358611, PMID:29760947, PMID:30311386, 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
ClinVar Annotator: match by term: Febrile seizures, familial, 3b
OMIM
ClinVar
PMID:10514109, PMID:10852559, PMID:10852560, PMID:17470132, PMID:19304393, PMID:19763161, PMID:22604722, PMID:23129781, PMID:25250524, PMID:25741868, PMID:26467025, PMID:27504264, PMID:28492532, PMID:29176367, PMID:30642272 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:9126483, PMID:11992121, PMID:16530959, PMID:16569738, PMID:16718694, PMID:18414213, PMID:20551311, PMID:21714819, PMID:22190369, PMID:23934111, 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 mindbomb 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: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:9126483, PMID:11992121, PMID:16530959, PMID:16569738, PMID:16718694, PMID:18414213, PMID:18534981, PMID:20551311, PMID:21714819, PMID:22190369, PMID:23934111, PMID:24623842, PMID:24811917, 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:23279911, PMID:25356972, PMID:25741868, PMID:25950944, 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 OMIM 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:3029762, PMID:8052858, PMID:10473536, PMID:10627609, PMID:11461966, PMID:15800199, PMID:20700442, PMID:22015374, PMID:24140049, PMID:25245802, PMID:25262651, PMID:25741868, PMID:27597899, 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
OMIM
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:9623887, PMID:12451126, PMID:18414213, PMID:22495306, PMID:23020937, PMID:24859339, PMID:25741868, PMID:25865495, PMID:26467025, PMID:26716362, 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: Atrophia bulborum hereditaria
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, PMID:30311386 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 Cbs cystathionine beta synthase ISO ClinVar Annotator: match by term: Infantile spasms ClinVar PMID:10338090, PMID:12124992, PMID:15365998, PMID:16479318, PMID:25741868, PMID:28492532, PMID:29352562, PMID:30311386 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
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: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
ClinVar Annotator: match by term: Salaam seizures
CTD
ClinVar
PMID:9482850, PMID:9915948, PMID:10419023, PMID:10497229, PMID:16385454, PMID:16919904, PMID:25741868, PMID:25967389, PMID:26970254, PMID:27290639, PMID:28492532, PMID:30311386 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
ClinVar Annotator: match by term: Infantile spasms
CTD
ClinVar
PMID:17304050, PMID:18345974, PMID:25741868, PMID:30311386 NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: Salaam seizures ClinVar PMID:10852545, PMID:12529715, PMID:24033266, PMID:30311386 NCBI chr 7:130,342,481...130,347,845
Ensembl chr 7:130,342,483...130,347,587
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 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            epilepsy 1528
              Generalized Epilepsy 295
                Generalized Epilepsy and Paroxysmal Dyskinesia 1
                Myoclonic-Atonic Epilepsy 1
                Nodding Syndrome 0
                Photoparoxysmal Response 2 0
                West syndrome + 34
                childhood absence epilepsy + 38
                epilepsy with generalized tonic-clonic seizures + 28
                generalized epilepsy with febrile seizures plus + 9
                idiopathic generalized epilepsy + 167
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.