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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:idiopathic generalized epilepsy
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Accession:DOID:1827 term browser browse the term
Definition:An epilepsy syndrome that is characterized by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain. (DO)
Synonyms:exact_synonym: EIG;   EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 10;   generalised epilepsy
 narrow_synonym: EIG1
 related_synonym: IGE EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 1;   idiopathic generalized epilepsy, susceptibility to, 1
 primary_id: MESH:C562694
 alt_id: MIM:600669
 xref: EFO:0005917;   MIM:PS600669;   NCI:C3021
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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 chr 6:38,679,312...38,712,868
Ensembl chr 6:38,679,324...38,712,648 		JBrowse link
G ABCB1 ATP binding cassette subfamily B member 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar NCBI chr14:13,644,891...13,852,829
Ensembl chr14:13,542,647...13,742,727 		JBrowse link
G ADCY9 adenylate cyclase 9 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:37,213,251...37,334,820
Ensembl chr 6:37,213,227...37,331,563 		JBrowse link
G ADGRV1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:22135276 PMID:24033266 PMID:24123792 PMID:25741868 PMID:28492532 More... NCBI chr 3:17,866,459...18,351,532
Ensembl chr 3:17,866,808...18,351,532 		JBrowse link
G AFMID arylformamidase ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532
G AMDHD2 amidohydrolase domain containing 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,509,793...38,519,711 JBrowse link
G ANKRD65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:56,564,686...56,568,194
Ensembl chr 5:56,565,514...56,567,376 		JBrowse link
G ANKS3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:36,678,916...36,711,096
Ensembl chr 6:36,669,590...36,710,807 		JBrowse link
G ANTKMT adenine nucleotide translocase lysine methyltransferase ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:39,861,436...39,863,872 JBrowse link
G ARHGDIG Rho GDP dissociation inhibitor gamma ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:40,222,014...40,225,037
Ensembl chr 6:40,221,103...40,223,115 		JBrowse link
G ARL5A ADP ribosylation factor like GTPase 5A ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr19:52,949,533...52,973,408
Ensembl chr19:52,947,922...52,973,406
Ensembl chr19:52,947,922...52,973,406 		JBrowse link
G ATAD3A ATPase family AAA domain containing 3A ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:56,587,385...56,613,475
Ensembl chr 5:56,587,428...56,612,746 		JBrowse link
G ATP6V0C ATPase H+ transporting V0 subunit c ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,519,869...38,525,217
Ensembl chr 6:38,520,765...38,525,062 		JBrowse link
G AURKAIP1 aurora kinase A interacting protein 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:56,539,987...56,541,578
Ensembl chr 5:56,539,991...56,541,388 		JBrowse link
G AXIN1 axin 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:40,155,797...40,218,330
Ensembl chr 6:40,158,244...40,218,343 		JBrowse link
G BAIAP3 BAI1 associated protein 3 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:39,421,019...39,434,539
Ensembl chr 6:39,427,520...39,435,596 		JBrowse link
G BICDL2 BICD family like cargo adaptor 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,151,942...38,161,462
Ensembl chr 6:38,152,952...38,161,428 		JBrowse link
G BIRC5 baculoviral IAP repeat containing 5 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 9:2,930,308...2,959,307 JBrowse link
G BRICD5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,760,164...38,761,718
Ensembl chr 6:38,758,254...38,761,735 		JBrowse link
G C1QTNF1 C1q and TNF related 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 9:2,401,369...2,405,595
Ensembl chr 9:2,402,945...2,404,053 		JBrowse link
G C6H16orf90 chromosome 6 C16orf90 homolog ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:37,754,210...37,756,174
Ensembl chr 6:37,754,234...37,756,173 		JBrowse link
G C6H16orf96 chromosome 6 C16orf96 homolog ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:36,793,546...36,838,116
Ensembl chr 6:36,795,470...36,837,972 		JBrowse link
G C9H17orf99 chromosome 9 C17orf99 homolog ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 9:2,977,401...2,987,450
Ensembl chr 9:2,976,893...2,987,564 		JBrowse link
G CACNA1H calcium voltage-gated channel subunit alpha1 H ISO ClinVar Annotator: match by term: Generalised epilepsy | ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar Annotator: match by term: Epilepsy, juvenile myoclonic, susceptibility to, 10 | ClinVar Annotator: match by term: Idiopathic generalized epilepsy		 ClinVar PMID:9536098 PMID:12891677 PMID:14729682 PMID:15048902 PMID:15852375 More... NCBI chr 6:39,510,129...39,533,129
Ensembl chr 6:39,510,121...39,533,753 		JBrowse link
G CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:9536098 PMID:10762541 PMID:17576681 PMID:18755274 PMID:25741868 More... NCBI chr19:52,987,170...53,116,410
Ensembl chr19:52,993,618...53,116,140
Ensembl chr19:52,993,618...53,116,140 		JBrowse link
G CALML6 calmodulin like 6 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:56,901,401...56,904,422
Ensembl chr 5:56,901,715...56,904,424 		JBrowse link
G CANT1 calcium activated nucleotidase 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 9:2,428,107...2,460,097 JBrowse link
G CAPN15 calpain 15 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:39,996,587...40,014,798
Ensembl chr 6:39,996,575...40,010,807 		JBrowse link
G CARD14 caspase recruitment domain family member 14 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 9:1,547,645...1,571,567
Ensembl chr 9:1,547,686...1,573,581 		JBrowse link
G CASKIN1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,776,710...38,788,253
Ensembl chr 6:38,776,710...38,786,727 		JBrowse link
G CASR calcium sensing receptor ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:25741868 PMID:28492532 NCBI chr33:25,340,822...25,432,814
Ensembl chr33:25,405,846...25,432,559 		JBrowse link
G CBX2 chromobox 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 9:1,847,867...1,855,923
Ensembl chr 9:1,850,874...1,856,328 		JBrowse link
G CBX4 chromobox 4 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 9:1,799,847...1,807,500
Ensembl chr 9:1,802,047...1,807,690 		JBrowse link
G CBX8 chromobox 8 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 9:1,839,701...1,842,355
Ensembl chr 9:1,839,096...1,843,099 		JBrowse link
G CCDC154 coiled-coil domain containing 154 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:39,356,234...39,364,053
Ensembl chr 6:39,357,273...39,364,740 		JBrowse link
G CCDC40 coiled-coil domain 40 molecular ruler complex subunit ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 9:1,616,029...1,656,043
Ensembl chr 9:1,601,121...1,656,597 		JBrowse link
G CCDC78 coiled-coil domain containing 78 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:39,857,182...39,861,437
Ensembl chr 6:39,857,304...39,875,418 		JBrowse link
G CCNF cyclin F ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,572,883...38,592,465
Ensembl chr 6:38,574,234...38,592,435 		JBrowse link
G CCNL2 cyclin L2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:56,542,358...56,550,701
Ensembl chr 5:56,542,566...56,550,691 		JBrowse link
G CDIP1 cell death inducing p53 target 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:36,854,124...36,880,231
Ensembl chr 6:36,854,141...36,880,230 		JBrowse link
G CDK11 cyclin dependent kinase 11 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:56,698,267...56,714,075 JBrowse link
G CFAP74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:56,909,092...56,970,980
Ensembl chr 5:56,909,486...56,961,903 		JBrowse link
G CHTF18 chromosome transmission fidelity factor 18 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:39,806,924...39,815,145
Ensembl chr 6:39,806,673...39,815,333 		JBrowse link
G CIAO3 cytosolic iron-sulfur assembly component 3 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:39,846,782...39,853,952
Ensembl chr 6:39,846,856...39,853,956 		JBrowse link
G CILK1 ciliogenesis associated kinase 1 ISO ClinVar Annotator: match by term: Epilepsy, juvenile myoclonic, susceptibility to, 10 | ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:25741868 PMID:28492532 PMID:29539279 PMID:32178256 NCBI chr12:20,453,322...20,511,463
Ensembl chr12:20,450,834...20,511,673 		JBrowse link
G CLCN2 chloride voltage-gated channel 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr34:17,224,136...17,238,755
Ensembl chr34:17,223,215...17,239,621 		JBrowse link
G CLCN7 chloride voltage-gated channel 7 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:39,331,100...39,356,477
Ensembl chr 6:39,331,170...39,364,991 		JBrowse link
G CLDN6 claudin 6 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,168,793...38,171,827
Ensembl chr 6:38,170,608...38,171,273 		JBrowse link
G CLDN9 claudin 9 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,172,035...38,174,089
Ensembl chr 6:38,172,550...38,173,203 		JBrowse link
G CLUAP1 clusterin associated protein 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:37,708,258...37,746,361
Ensembl chr 6:37,708,089...37,746,398 		JBrowse link
G CPTP ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:56,498,163...56,501,918
Ensembl chr 5:56,498,207...56,500,845 		JBrowse link
G CRAMP1 cramped chromatin regulator homolog 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:39,202,267...39,245,851
Ensembl chr 6:39,203,546...39,245,911 		JBrowse link
G CREBBP CREB binding protein ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:37,410,201...37,536,688
Ensembl chr 6:37,409,930...37,534,176 		JBrowse link
G CYTH1 cytohesin 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 9:2,636,553...2,677,356
Ensembl chr 9:2,605,084...2,675,661 		JBrowse link
G DECR2 2,4-dienoyl-CoA reductase 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:40,108,878...40,118,760
Ensembl chr 6:40,111,215...40,115,726 		JBrowse link
G DNAAF8 dynein axonemal assembly factor 8 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:36,665,193...36,678,860
Ensembl chr 6:36,665,455...36,678,680 		JBrowse link
G DNAH17 dynein axonemal heavy chain 17 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 9:2,713,236...2,809,101
Ensembl chr 9:2,715,077...2,809,101 		JBrowse link
G DNAJA3 DnaJ heat shock protein family (Hsp40) member A3 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:36,921,941...36,967,718
Ensembl chr 6:36,917,858...36,967,689 		JBrowse link
G DNASE1 deoxyribonuclease 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:37,596,735...37,599,953
Ensembl chr 6:37,595,911...37,599,827 		JBrowse link
G DNASE1L2 deoxyribonuclease 1 like 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532
G DNM1 dynamin 1 ISO 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 9:55,252,802...55,298,244
Ensembl chr 9:55,252,347...55,298,244 		JBrowse link
G DVL1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:56,507,803...56,519,382
Ensembl chr 5:56,507,739...56,519,491 		JBrowse link
G E4F1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,743,346...38,752,427
Ensembl chr 6:38,743,355...38,752,403 		JBrowse link
G ECI1 enoyl-CoA delta isomerase 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,729,729...38,738,357
Ensembl chr 6:38,730,219...38,738,219 		JBrowse link
G EIF4A3 eukaryotic translation initiation factor 4A3 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 9:1,582,950...1,593,893
Ensembl chr 9:1,582,993...1,593,892 		JBrowse link
G ELOB elongin B ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,311,082...38,314,502
Ensembl chr 6:38,311,082...38,314,508 		JBrowse link
G EME2 essential meiotic structure-specific endonuclease subunit 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:39,127,433...39,129,487 JBrowse link
G ENGASE endo-beta-N-acetylglucosaminidase ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 9:2,377,723...2,385,270
Ensembl chr 9:2,375,838...2,385,258 		JBrowse link
G ENPP7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 9:1,887,093...1,894,728
Ensembl chr 9:1,887,201...1,897,473 		JBrowse link
G FAAP20 FA core complex associated protein 20 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:57,114,784...57,122,854 JBrowse link
G FAHD1 fumarylacetoacetate hydrolase domain containing 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:39,082,536...39,084,248
Ensembl chr 6:39,070,562...39,083,971 		JBrowse link
G FAM234A family with sequence similarity 234 member A ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:40,234,853...40,271,453
Ensembl chr 6:40,234,858...40,266,454 		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 chr 6:39,879,314...39,884,995
Ensembl chr 6:39,880,518...39,888,020 		JBrowse link
G FLYWCH1 FLYWCH-type zinc finger 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,223,341...38,246,991
Ensembl chr 6:38,224,825...38,244,866 		JBrowse link
G FLYWCH2 FLYWCH family member 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,255,495...38,264,953
Ensembl chr 6:38,256,552...38,258,564 		JBrowse link
G FNDC10 fibronectin type III domain containing 10 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:56,660,721...56,662,696 JBrowse link
G GAA alpha glucosidase ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 9:1,601,092...1,615,582
Ensembl chr 9:1,601,121...1,656,597 		JBrowse link
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 ISO ClinVar Annotator: match by term: Generalised epilepsy | ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:9536098 PMID:16199547 PMID:16530959 PMID:16569738 PMID:16718694 More... NCBI chr 4:49,006,981...49,065,205
Ensembl chr 4:49,009,495...49,062,581 		JBrowse link
G GABRA6 gamma-aminobutyric acid type A receptor subunit alpha6 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:16718694 PMID:22190369 PMID:24811917 PMID:28492532 NCBI chr 4:49,208,691...49,225,754
Ensembl chr 4:49,208,605...49,226,212 		JBrowse link
G GABRB2 gamma-aminobutyric acid type A receptor subunit beta2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:16718694 PMID:22190369 PMID:24811917 PMID:28492532 NCBI chr 4:49,342,527...49,579,697
Ensembl chr 4:49,342,508...49,578,092 		JBrowse link
G GABRD gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:9536098 PMID:15115768 PMID:16023832 PMID:16199547 PMID:16256272 More... NCBI chr 5:56,984,786...56,994,790
Ensembl chr 5:56,984,913...56,994,358 		JBrowse link
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:16718694 PMID:22190369 PMID:22539854 PMID:22750526 PMID:24407264 More... NCBI chr 4:48,794,770...48,901,859
Ensembl chr 4:48,796,852...48,901,548 		JBrowse link
G GFER growth factor, augmenter of liver regeneration ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,948,927...38,951,300
Ensembl chr 6:38,949,484...38,951,703 		JBrowse link
G GLIS2 GLIS family zinc finger 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:37,048,380...37,069,740
Ensembl chr 6:37,048,367...37,088,880 		JBrowse link
G GNB1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:56,777,854...56,879,619
Ensembl chr 5:56,779,354...56,817,295 		JBrowse link
G GNG13 G protein subunit gamma 13 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:39,800,092...39,806,959
Ensembl chr 6:39,806,528...39,806,871 		JBrowse link
G GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:39,405,801...39,418,672
Ensembl chr 6:39,405,809...39,419,392 		JBrowse link
G HAGH hydroxyacylglutathione hydrolase ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:39,076,364...39,105,646
Ensembl chr 6:39,084,513...39,105,592 		JBrowse link
G HAGHL hydroxyacylglutathione hydrolase like ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:39,853,979...39,857,041
Ensembl chr 6:39,854,038...39,857,283 		JBrowse link
G HCFC1R1 host cell factor C1 regulator 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,164,215...38,165,921
Ensembl chr 6:38,164,275...38,165,672 		JBrowse link
G HMOX2 heme oxygenase 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:36,881,073...36,898,062
Ensembl chr 6:36,881,506...36,898,042 		JBrowse link
G HS3ST6 heparan sulfate-glucosamine 3-sulfotransferase 6 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,997,299...39,002,611 JBrowse link
G IFT140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:39,262,887...39,308,912
Ensembl chr 6:39,295,045...39,308,758 		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 chr 6:39,115,744...39,118,831
Ensembl chr 6:39,114,315...39,119,652 		JBrowse link
G IL32 interleukin 32 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,119,287...38,122,979 JBrowse link
G INTS11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:56,485,690...56,498,074
Ensembl chr 5:56,485,948...56,498,017 		JBrowse link
G JMJD8 jumonji domain containing 8 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:39,891,930...39,894,549
Ensembl chr 6:39,891,926...39,927,919 		JBrowse link
G JPT2 Jupiter microtubule associated homolog 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:39,181,488...39,201,903
Ensembl chr 6:39,185,213...39,201,890 		JBrowse link
G KCNIP1 potassium voltage-gated channel interacting protein 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar NCBI chr 4:41,220,128...41,566,841
Ensembl chr 4:41,223,369...41,431,510 		JBrowse link
G KCTD5 potassium channel tetramerization domain containing 5 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,403,024...38,426,158
Ensembl chr 6:38,404,330...38,426,134 		JBrowse link
G KREMEN2 kringle containing transmembrane protein 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,214,853...38,218,679
Ensembl chr 6:38,215,221...38,218,299 		JBrowse link
G LMF1 lipase maturation factor 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:39,682,229...39,768,311
Ensembl chr 6:39,696,442...39,762,709 		JBrowse link
G LOC100049001 tryptase ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:39,505,485...39,506,909 JBrowse link
G LOC100688087 zinc finger protein 75A-like ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:37,919,034...37,930,995 JBrowse link
G LOC100688918 putative inactive serine protease 58 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr16:7,332,108...7,380,287 JBrowse link
G LOC102152446 coronin-7 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:36,980,302...37,038,210 JBrowse link
G LOC479874 testisin ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,339,066...38,343,477
Ensembl chr 6:38,333,024...38,343,470 		JBrowse link
G LOC611363 mesothelin ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:39,827,985...39,834,945 JBrowse link
G LUC7L LUC7 like ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:40,274,290...40,310,084
Ensembl chr 6:40,273,801...40,309,921 		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 chr 6:39,132,746...39,179,427
Ensembl chr 6:39,133,965...39,179,505 		JBrowse link
G MCRIP2 MAPK regulated corepressor interacting protein 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:39,921,947...39,922,873 JBrowse link
G MEFV MEFV innate immunity regulator, pyrin ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:37,964,776...37,984,830
Ensembl chr 6:37,970,608...37,983,737 		JBrowse link
G MEIOB meiosis specific with OB-fold ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:39,048,335...39,075,957
Ensembl chr 6:39,048,278...39,076,035 		JBrowse link
G METRN meteorin, glial cell differentiation regulator ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:39,864,731...39,867,729 JBrowse link
G METTL26 methyltransferase like 26 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:39,932,040...39,933,659
Ensembl chr 6:39,931,968...39,933,670 		JBrowse link
G MGRN1 mahogunin ring finger 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:36,716,071...36,775,893
Ensembl chr 6:36,716,343...36,769,417 		JBrowse link
G MIB2 MIB E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:56,680,526...56,693,551
Ensembl chr 5:56,581,550...56,693,544 		JBrowse link
G MLST8 MTOR associated protein, LST8 homolog ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,759,713...38,765,556
Ensembl chr 6:38,762,103...38,765,488 		JBrowse link
G MMP23 matrix metallopeptidase 23 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:56,693,751...56,697,284
Ensembl chr 5:56,694,966...56,697,284 		JBrowse link
G MMP25 matrix metallopeptidase 25 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,128,585...38,139,882
Ensembl chr 6:38,130,092...38,140,007 		JBrowse link
G MORN1 MORN repeat containing 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:57,227,265...57,275,292
Ensembl chr 5:57,227,315...57,277,669 		JBrowse link
G MRPL20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:56,553,326...56,558,182
Ensembl chr 5:56,553,331...56,558,136 		JBrowse link
G MRPL28 mitochondrial ribosomal protein L28 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:40,146,050...40,148,024
Ensembl chr 6:40,145,793...40,148,004 		JBrowse link
G MRPS34 mitochondrial ribosomal protein S34 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:39,130,597...39,131,643
Ensembl chr 6:39,130,561...39,131,648 		JBrowse link
G MSRB1 methionine sulfoxide reductase B1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,981,721...38,986,459
Ensembl chr 6:38,981,721...38,986,459 		JBrowse link
G MXRA8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:56,522,283...56,526,750
Ensembl chr 5:56,522,470...56,526,668 		JBrowse link
G NAA60 N-alpha-acetyltransferase 60, NatF catalytic subunit ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:37,759,233...37,784,224
Ensembl chr 6:37,761,497...37,793,290 		JBrowse link
G NADK NAD kinase ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:56,743,920...56,774,578
Ensembl chr 5:56,745,869...56,774,529 		JBrowse link
G NDUFB10 NADH:ubiquinone oxidoreductase subunit B10 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,968,737...38,971,214
Ensembl chr 6:38,968,742...38,971,196 		JBrowse link
G NEB nebulin ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532
G NHERF2 NHERF family PDZ scaffold protein 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,905,070...38,915,028
Ensembl chr 6:38,905,635...38,942,774 		JBrowse link
G NLRC3 NLR family CARD domain containing 3 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:37,668,654...37,707,387
Ensembl chr 6:37,647,976...37,703,190 		JBrowse link
G NME3 NME/NM23 nucleoside diphosphate kinase 3 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:39,131,807...39,132,756 JBrowse link
G NME4 NME/NM23 nucleoside diphosphate kinase 4 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:40,119,443...40,122,418 JBrowse link
G NMRAL1 NmrA like redox sensor 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:36,918,303...36,927,581
Ensembl chr 6:36,916,787...36,927,578 		JBrowse link
G NOXO1 NADPH oxidase organizer 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,951,926...38,956,134
Ensembl chr 6:38,953,741...38,956,115 		JBrowse link
G NPW neuropeptide W ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 9:552,402...554,062 JBrowse link
G NTHL1 nth like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,899,144...38,904,637
Ensembl chr 6:38,899,126...38,905,622 		JBrowse link
G NTN3 netrin 3 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,558,942...38,561,437
Ensembl chr 6:38,558,150...38,561,323 		JBrowse link
G NUBP2 NUBP iron-sulfur cluster assembly factor 2, cytosolic ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:39,119,332...39,121,869
Ensembl chr 6:39,119,337...39,122,370 		JBrowse link
G NUDT16L1 nudix hydrolase 16 like 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:36,711,351...36,713,931
Ensembl chr 6:36,711,671...36,713,896
Ensembl chr 6:36,711,671...36,713,896 		JBrowse link
G OR1AB3 olfactory receptor family 1 subfamily AB member 3 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr20:46,407,857...46,408,798
Ensembl chr20:46,407,857...46,408,798 		JBrowse link
G OR2C1 olfactory receptor family 2 subfamily C member 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:37,844,712...37,846,121
Ensembl chr 6:37,844,712...37,845,650 		JBrowse link
G PAM16 presequence translocase associated motor 16 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:37,040,484...37,047,708 JBrowse link
G PAQR4 progestin and adipoQ receptor family member 4 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,210,476...38,213,689
Ensembl chr 6:38,210,481...38,213,670 		JBrowse link
G PDIA2 protein disulfide isomerase family A member 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:40,218,566...40,221,924
Ensembl chr 6:40,218,550...40,231,402 		JBrowse link
G PDPK1 3-phosphoinositide dependent protein kinase 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,426,464...38,506,520
Ensembl chr 6:38,431,600...38,499,295 		JBrowse link
G PEX10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:57,289,530...57,291,864
Ensembl chr 5:57,289,326...57,291,802 		JBrowse link
G PGAP6 post-GPI attachment to proteins 6 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:40,139,259...40,144,957
Ensembl chr 6:40,136,561...40,144,957 		JBrowse link
G PGP phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532
G PGS1 phosphatidylglycerophosphate synthase 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 9:2,808,169...2,845,308
Ensembl chr 9:2,808,338...2,845,722 		JBrowse link
G PIGQ phosphatidylinositol glycan anchor biosynthesis class Q ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:39,971,069...39,980,128
Ensembl chr 6:39,971,057...39,981,039 		JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,811,051...38,865,503
Ensembl chr 6:38,837,964...38,865,503 		JBrowse link
G PKMYT1 protein kinase, membrane associated tyrosine/threonine 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,200,445...38,210,458
Ensembl chr 6:38,200,322...38,210,414 		JBrowse link
G PRKCZ protein kinase C zeta ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:57,012,020...57,113,346
Ensembl chr 5:57,012,070...57,112,664 		JBrowse link
G PRR35 proline rich 35 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:39,986,610...39,988,803
Ensembl chr 6:39,985,865...39,988,629 		JBrowse link
G PRSS22 serine protease 22 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,371,440...38,375,479
Ensembl chr 6:38,371,436...38,375,483 		JBrowse link
G PRSS27 serine protease 27 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,393,583...38,400,069 JBrowse link
G PRSS33 serine protease 33 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,318,746...38,322,521
Ensembl chr 6:38,318,729...38,321,841 		JBrowse link
G PTX4 pentraxin 4 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:39,320,647...39,328,256
Ensembl chr 6:39,322,920...39,327,711 		JBrowse link
G RAB11FIP3 RAB11 family interacting protein 3 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:40,020,673...40,100,229
Ensembl chr 6:40,021,805...40,047,273 		JBrowse link
G RAB26 RAB26, member RAS oncogene family ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,806,750...38,812,541
Ensembl chr 6:38,807,487...38,812,379 		JBrowse link
G RAB40C RAB40C, member RAS oncogene family ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:39,937,858...39,968,042
Ensembl chr 6:39,939,004...39,945,765 		JBrowse link
G RBFOX1 RNA binding fox-1 homolog 1 ISO ClinVar Annotator: match by term: Generalised epilepsy | ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:23286373 PMID:24039908 More... NCBI chr 6:34,218,276...36,255,529
Ensembl chr 6:34,220,648...36,255,384 		JBrowse link
G RBFOX3 RNA binding fox-1 homolog 3 ISO ClinVar Annotator: match by term: EIG | ClinVar Annotator: match by term: Generalised epilepsy | ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 9:2,362,354...2,374,492
Ensembl chr 9:2,362,231...2,372,739 		JBrowse link
G RER1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:57,278,349...57,288,564
Ensembl chr 5:57,278,371...57,285,870 		JBrowse link
G RGS11 regulator of G protein signaling 11 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:40,225,910...40,233,942
Ensembl chr 6:40,225,506...40,233,936 		JBrowse link
G RHBDL1 rhomboid like 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:39,896,982...39,899,219
Ensembl chr 6:39,896,969...39,899,266 		JBrowse link
G RHOT2 ras homolog family member T2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:39,900,889...39,905,624
Ensembl chr 6:39,901,062...39,922,320 		JBrowse link
G RNF151 ring finger protein 151 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,963,012...38,965,114
Ensembl chr 6:38,963,034...38,964,999 		JBrowse link
G RNF213 ring finger protein 213 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 9:1,439,061...1,506,658
Ensembl chr 9:1,440,364...1,506,951 		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 chr 6:38,719,713...38,729,437
Ensembl chr 6:38,719,792...38,728,773 		JBrowse link
G ROGDI rogdi atypical leucine zipper ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:36,618,670...36,624,533
Ensembl chr 6:36,491,561...36,624,532 		JBrowse link
G RPL3L ribosomal protein L3 like ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,971,098...38,981,466
Ensembl chr 6:38,974,018...38,982,012 		JBrowse link
G RPS2 ribosomal protein S2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,966,830...38,968,743 JBrowse link
G RPUSD1 RNA pseudouridine synthase domain containing 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:39,815,405...39,818,151
Ensembl chr 6:39,803,930...39,828,899 		JBrowse link
G SEPTIN12 septin 12 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:36,630,038...36,641,920
Ensembl chr 6:36,630,117...36,641,924 		JBrowse link
G SGSH N-sulfoglucosamine sulfohydrolase ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 9:1,540,933...1,547,029
Ensembl chr 9:1,540,932...1,547,029 		JBrowse link
G SKI SKI proto-oncogene ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:57,144,178...57,216,385
Ensembl chr 5:57,145,825...57,214,403 		JBrowse link
G SLC12A5 solute carrier family 12 member 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr24:33,285,773...33,322,885
Ensembl chr24:33,285,852...33,321,567 		JBrowse link
G SLC26A11 solute carrier family 26 member 11 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 9:1,522,836...1,539,889
Ensembl chr 9:1,522,833...1,540,118 		JBrowse link
G SLC35E2 solute carrier family 35 member E2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:56,715,798...56,739,464
Ensembl chr 5:56,718,550...56,738,420 		JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:37,648,297...37,666,584
Ensembl chr 6:37,647,976...37,703,190 		JBrowse link
G SMIM22 small integral membrane protein 22 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:36,624,080...36,625,631
Ensembl chr 6:36,624,992...36,625,505 		JBrowse link
G SOCS3 suppressor of cytokine signaling 3 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 9:2,859,267...2,859,944 JBrowse link
G SOX8 SRY-box transcription factor 8 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:39,667,941...39,672,716
Ensembl chr 6:39,668,232...39,672,638 		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 chr 6:39,122,148...39,127,444
Ensembl chr 6:39,122,247...39,127,446 		JBrowse link
G SRL sarcalumenin ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:37,113,398...37,163,133
Ensembl chr 6:37,124,499...37,160,955 		JBrowse link
G SRRM2 serine/arginine repetitive matrix 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,291,847...38,310,624
Ensembl chr 6:38,291,842...38,393,924 		JBrowse link
G SSTR5 somatostatin receptor 5 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:39,608,813...39,610,138 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 5:56,620,803...56,650,131
Ensembl chr 5:56,620,805...56,650,131 		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 chr 6:39,893,492...39,895,385
Ensembl chr 6:39,893,670...39,897,573 		JBrowse link
G SYNGR2 synaptogyrin 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 9:2,972,561...2,976,775 JBrowse link
G SYNGR3 synaptogyrin 3 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,941,933...38,944,110 JBrowse link
G TAS1R3 taste 1 receptor member 3 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:56,503,720...56,506,883
Ensembl chr 5:56,503,720...56,506,898 		JBrowse link
G TBC1D16 TBC1 domain family member 16 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 9:1,656,134...1,733,427
Ensembl chr 9:1,656,960...1,733,440 		JBrowse link
G TBC1D24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,531,547...38,557,472 JBrowse link
G TBL3 transducin beta like 3 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,956,227...38,962,189
Ensembl chr 6:38,788,454...38,962,167 		JBrowse link
G TEDC2 tubulin epsilon and delta complex 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,567,365...38,571,451
Ensembl chr 6:38,567,547...38,571,341 		JBrowse link
G TELO2 telomere maintenance 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:39,309,224...39,320,215
Ensembl chr 6:39,310,466...39,359,491 		JBrowse link
G TFAP4 transcription factor AP-4 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:37,075,462...37,111,039
Ensembl chr 6:37,097,786...37,111,072 		JBrowse link
G THOC6 THO complex subunit 6 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,161,506...38,164,287
Ensembl chr 6:38,161,474...38,164,402 		JBrowse link
G TIGD7 tigger transposable element derived 7 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:37,931,461...37,937,102
Ensembl chr 6:37,934,889...37,936,535 		JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 9:2,521,882...2,533,883
Ensembl chr 9:2,521,882...2,533,989 		JBrowse link
G TK1 thymidine kinase 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 9:2,959,450...2,970,908
Ensembl chr 9:2,959,488...2,971,064 		JBrowse link
G TMC6 transmembrane channel like 6 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 9:3,002,689...3,018,059
Ensembl chr 9:2,805,651...3,016,309 		JBrowse link
G TMC8 transmembrane channel like 8 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 9:2,989,095...2,999,702
Ensembl chr 9:2,990,419...2,999,778 		JBrowse link
G TMEM204 transmembrane protein 204 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:39,274,853...39,290,255
Ensembl chr 6:39,275,373...39,289,711 		JBrowse link
G TMEM235 transmembrane protein 235 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 9:2,918,854...2,923,390
Ensembl chr 9:2,919,594...2,923,360 		JBrowse link
G TMEM240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:56,613,561...56,619,693
Ensembl chr 5:56,614,201...56,619,693 		JBrowse link
G TMEM52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:56,900,297...56,906,565
Ensembl chr 5:56,901,674...56,906,500 		JBrowse link
G TMEM88B transmembrane protein 88B ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:56,569,512...56,573,353
Ensembl chr 5:56,569,814...56,571,310 		JBrowse link
G TNFRSF12A TNF receptor superfamily member 12A ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,166,160...38,168,189
Ensembl chr 6:38,166,160...38,168,189 		JBrowse link
G TRAF7 TNF receptor associated factor 7 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,788,451...38,805,666
Ensembl chr 6:38,788,454...38,962,167 		JBrowse link
G TRAP1 TNF receptor associated protein 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:37,544,929...37,596,789
Ensembl chr 6:37,544,580...37,597,427 		JBrowse link
G TSC2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,865,509...38,898,977
Ensembl chr 6:38,865,507...38,898,960 		JBrowse link
G TSR3 TSR3 ribosome maturation factor ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:39,418,737...39,421,524
Ensembl chr 6:39,368,492...39,421,208 		JBrowse link
G UBALD1 UBA like domain containing 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:36,783,875...36,794,526
Ensembl chr 6:36,786,762...36,787,452 		JBrowse link
G UBE2I ubiquitin conjugating enzyme E2 I ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:39,440,123...39,453,688
Ensembl chr 6:39,440,314...39,817,588 		JBrowse link
G UNKL unk like zinc finger ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:39,382,858...39,405,954
Ensembl chr 6:39,376,488...39,404,885 		JBrowse link
G UQCC4 ubiquinol-cytochrome c reductase complex assembly factor 4 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:39,372,695...39,375,081
Ensembl chr 6:39,373,227...39,373,821 		JBrowse link
G USP36 ubiquitin specific peptidase 36 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 9:2,547,316...2,587,360
Ensembl chr 9:2,550,452...2,585,108 		JBrowse link
G VASN vasorin ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:37,014,704...37,025,734
Ensembl chr 6:37,015,333...37,017,351 		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 5:56,578,256...56,583,552
Ensembl chr 5:56,578,297...56,582,502 		JBrowse link
G WDR24 WD repeat domain 24 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:39,887,968...39,891,633
Ensembl chr 6:39,887,667...39,891,588 		JBrowse link
G WDR90 WD repeat domain 90 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:39,906,403...39,921,516
Ensembl chr 6:39,901,062...39,922,320 		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 chr 6:39,934,105...39,937,666
Ensembl chr 6:39,934,068...39,936,628 		JBrowse link
G ZG16B zymogen granule protein 16B ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,353,189...38,355,163
Ensembl chr 6:38,352,772...38,355,180 		JBrowse link
G ZNF174 zinc finger protein 174 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:37,819,278...37,828,985
Ensembl chr 6:37,821,961...37,828,238 		JBrowse link
G ZNF200 zinc finger protein 200 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:37,987,189...38,002,635
Ensembl chr 6:37,987,865...38,002,638 		JBrowse link
G ZNF205 zinc finger protein 205 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,085,069...38,095,012
Ensembl chr 6:38,085,231...38,097,678 		JBrowse link
G ZNF213 zinc finger protein 213 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,071,902...38,075,553
Ensembl chr 6:38,070,991...38,075,553 		JBrowse link
G ZNF263 zinc finger protein 263 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:37,941,884...37,949,366
Ensembl chr 6:37,934,786...37,948,607 		JBrowse link
G ZNF500 zinc finger protein 500 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:36,646,310...36,663,266
Ensembl chr 6:36,654,503...36,663,280 		JBrowse link
G ZNF597 zinc finger protein 597 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:37,793,406...37,798,568
Ensembl chr 6:37,793,585...37,798,541 		JBrowse link
G ZNF598 zinc finger protein 598, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,928,845...38,939,768
Ensembl chr 6:38,928,839...38,957,780 		JBrowse link
G ZSCAN10 zinc finger and SCAN domain containing 10 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:38,111,436...38,115,722
Ensembl chr 6:38,111,507...38,115,367 		JBrowse link
G ZSCAN32 zinc finger and SCAN domain containing 32 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 6:37,833,530...37,839,370 JBrowse link
Childhood Absence Epilepsy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1H calcium voltage-gated channel subunit alpha1 H susceptibility ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 6 | ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 6 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 6 ClinVar
OMIM		 PMID:9536098 PMID:12891677 PMID:14729682 PMID:15048902 PMID:15852375 More... NCBI chr 6:39,510,129...39,533,129
Ensembl chr 6:39,510,121...39,533,753 		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 ANO4 anoctamin 4 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus ClinVar PMID:25741868 NCBI chr15:39,740,496...40,149,039
Ensembl chr15:39,740,337...40,149,024 		JBrowse link
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus ClinVar NCBI chr 4:48,794,770...48,901,859
Ensembl chr 4:48,796,852...48,901,548 		JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus ClinVar PMID:24337656 PMID:25741868 PMID:26467025 PMID:27781031 PMID:28492532 More... NCBI chr36:11,105,936...11,245,978
Ensembl chr36:11,108,050...11,183,496 		JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus ClinVar PMID:9461582 PMID:9539778 PMID:9697698 PMID:9894880 PMID:11254444 More... NCBI chr 1:117,504,428...117,510,666
Ensembl chr 1:117,503,828...117,511,727 		JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus ClinVar NCBI chr36:10,472,496...10,605,055
Ensembl chr36:10,472,361...10,602,685 		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:20478850 PMID:21698661 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr36:11,287,358...11,382,897
Ensembl chr36:11,290,625...11,383,255 		JBrowse link
G SLC32A1 solute carrier family 32 member 1 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus ClinVar PMID:28842445 PMID:34038384 NCBI chr24:27,142,153...27,146,986
Ensembl chr24:27,142,423...27,146,262 		JBrowse link
G STX1B syntaxin 1B ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus ClinVar NCBI chr 6:17,209,972...17,219,903
Ensembl chr 6:17,210,433...17,241,363 		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 term: Generalized epilepsy with febrile seizures plus, type 1 ClinVar PMID:9126059 PMID:10521305 PMID:10742094 PMID:11254444 PMID:11254445 More... NCBI chr36:11,105,936...11,245,978
Ensembl chr36:11,108,050...11,183,496 		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 OMIM
ClinVar		 PMID:9461582 PMID:9539778 PMID:9697698 PMID:9894880 PMID:11254444 More... NCBI chr 1:117,504,428...117,510,666
Ensembl chr 1:117,503,828...117,511,727 		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: GEFS+, TYPE 10 | ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 10 OMIM
ClinVar		 PMID:24747641 PMID:25678871 PMID:25741868 PMID:26073591 PMID:26467025 More... NCBI chr 4:64,777,069...65,162,603
Ensembl chr 4:64,775,577...65,160,444 		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 RELN reelin ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr18:16,275,822...16,773,875
Ensembl chr18:16,275,837...16,773,875 		JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: GEFS+, TYPE 2 | ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 2 OMIM
ClinVar		 PMID:1893009 PMID:1893099 PMID:9126059 PMID:9536098 PMID:10486327 More... NCBI chr36:11,105,936...11,245,978
Ensembl chr36:11,108,050...11,183,496 		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 CSRNP3 cysteine and serine rich nuclear protein 3 ISO ClinVar Annotator: match by term: GEFS+, TYPE 7 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr36:10,664,555...10,863,366
Ensembl chr36:10,664,365...10,850,520 		JBrowse link
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: GEFS+, TYPE 7 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr36:10,895,366...10,990,848
Ensembl chr36:10,896,128...10,919,000 		JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: GEFS+, TYPE 7 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr36:11,105,936...11,245,978
Ensembl chr36:11,108,050...11,183,496 		JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: GEFS+, TYPE 7 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr36:10,472,496...10,605,055
Ensembl chr36:10,472,361...10,602,685 		JBrowse link
G SCN3A sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: GEFS+, TYPE 7 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr36:10,300,091...10,405,361
Ensembl chr36:10,302,191...10,377,923 		JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: GEFS+, TYPE 7 | ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 7 ClinVar PMID:9536098 PMID:10514109 PMID:10852559 PMID:10852560 PMID:14985375 More... NCBI chr36:11,287,358...11,382,897
Ensembl chr36:11,290,625...11,383,255 		JBrowse link
G TTC21B tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: GEFS+, TYPE 7 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr36:11,009,362...11,086,586
Ensembl chr36:11,010,296...11,086,674 		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 BCL7C BAF chromatin remodeling complex subunit BCL7C ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 ClinVar PMID:28492532 NCBI chr 6:17,305,670...17,354,375
Ensembl chr 6:17,293,776...17,340,526 		JBrowse link
G CFAP119 cilia and flagella associated protein 119 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 ClinVar PMID:28492532 NCBI chr 6:17,414,722...17,419,011
Ensembl chr 6:17,414,809...17,418,848 		JBrowse link
G CTF1 cardiotrophin 1 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 ClinVar PMID:28492532 NCBI chr 6:17,299,561...17,303,095
Ensembl chr 6:17,299,561...17,303,095 		JBrowse link
G FBXL19 F-box and leucine rich repeat protein 19 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 ClinVar PMID:28492532 NCBI chr 6:17,254,595...17,274,103
Ensembl chr 6:17,248,884...17,274,850 		JBrowse link
G HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 ClinVar PMID:25362483 PMID:25741868 PMID:26818399 PMID:28492532 PMID:31273778 NCBI chr 6:17,220,006...17,223,985
Ensembl chr 6:17,219,574...17,223,114 		JBrowse link
G ORAI3 ORAI calcium release-activated calcium modulator 3 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 ClinVar PMID:28492532 NCBI chr 6:17,248,900...17,253,935
Ensembl chr 6:17,248,884...17,274,850 		JBrowse link
G PHKG2 phosphorylase kinase catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 ClinVar PMID:28492532 NCBI chr 6:17,418,927...17,428,431
Ensembl chr 6:17,418,926...17,428,359 		JBrowse link
G RNF40 ring finger protein 40 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 ClinVar PMID:28492532 NCBI chr 6:17,402,022...17,414,494
Ensembl chr 6:17,402,908...17,414,362 		JBrowse link
G SETD1A SET domain containing 1A, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 ClinVar PMID:28492532 NCBI chr 6:17,224,107...17,246,527
Ensembl chr 6:17,224,694...17,245,870 		JBrowse link
G SRCAP Snf2 related CREBBP activator protein ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 ClinVar PMID:28492532 NCBI chr 6:17,437,097...17,470,724 JBrowse link
G STX1B syntaxin 1B ISO ClinVar Annotator: match by term: GEFS+, TYPE 9 | ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 OMIM
ClinVar		 PMID:9536098 PMID:11591834 PMID:16199547 PMID:17576681 PMID:25362483 More... NCBI chr 6:17,209,972...17,219,903
Ensembl chr 6:17,210,433...17,241,363 		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 6:17,184,044...17,189,481
Ensembl chr 6:17,184,399...17,189,370 		JBrowse link
G ZNF629 zinc finger protein 629 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 ClinVar PMID:28492532 NCBI chr 6:17,371,716...17,398,895
Ensembl chr 6:17,340,326...17,395,541 		JBrowse link
G ZNF668 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 6:17,157,767...17,166,397
Ensembl chr 6:17,158,384...17,166,174 		JBrowse link
Generalized Epilepsy with Febrile Seizures Plus, Type 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC32A1 solute carrier family 32 member 1 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 12 OMIM
ClinVar		 PMID:25741868 PMID:28842445 PMID:34038384 PMID:36073542 NCBI chr24:27,142,153...27,146,986
Ensembl chr24:27,142,423...27,146,262 		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 gamma2 ISO ClinVar Annotator: match by term: GEFS+, TYPE 3 ClinVar PMID:23708187 PMID:25726841 PMID:25730860 PMID:27864268 PMID:28492532 More... NCBI chr 4:48,794,770...48,901,859
Ensembl chr 4:48,796,852...48,901,548 		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 More... NCBI chr 5:56,984,786...56,994,790
Ensembl chr 5:56,984,913...56,994,358 		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, susceptibility to, 10 | ClinVar Annotator: match by term: GABRD-related condition OMIM
ClinVar		 PMID:15115768 PMID:16023832 PMID:16256272 PMID:16452673 PMID:17559416 More... NCBI chr 5:56,984,786...56,994,790
Ensembl chr 5:56,984,913...56,994,358 		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, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 11 ClinVar
OMIM		 PMID:1521363 PMID:12612585 PMID:15252188 PMID:15505175 PMID:16199547 More... NCBI chr34:17,224,136...17,238,755
Ensembl chr34:17,223,215...17,239,621 		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 ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 12 ClinVar
OMIM		 PMID:9536098 PMID:10980529 PMID:11477212 PMID:15622525 PMID:16217704 More... NCBI chr15:463,307...493,145
Ensembl chr15:463,237...493,140 		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 alpha1 susceptibility ISO ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 | ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 13 ClinVar
OMIM		 PMID:11992121 PMID:16530959 PMID:16569738 PMID:18414213 PMID:18534981 More... NCBI chr 4:49,006,981...49,065,205
Ensembl chr 4:49,009,495...49,062,581 		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 ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 14 ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:24668262 PMID:24928908 PMID:25741868 More... NCBI chr24:33,285,773...33,322,885
Ensembl chr24:33,285,852...33,321,567 		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 OMIM
ClinVar		 PMID:16199547 PMID:25356972 PMID:25741868 PMID:27352968 PMID:28492532 NCBI chr 1:83,470,569...83,666,200
Ensembl chr 1:83,476,816...83,666,061 		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 ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 16 ClinVar
OMIM		 PMID:25741868 PMID:28492532 NCBI chr 4:26,844,250...27,338,271
Ensembl chr 4:26,844,250...27,555,776 		JBrowse link
Idiopathic Generalized Epilepsy 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 18 ClinVar
OMIM		 PMID:23623143 PMID:24033266 PMID:24607718 PMID:25642760 PMID:25741868 More... NCBI chr30:36,637,492...36,656,194
Ensembl chr30:36,639,908...36,656,406 		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, susceptibility to, 7 ClinVar PMID:25326635 PMID:25741868 NCBI chr 3:36,852,082...37,164,930
Ensembl chr 3:36,852,543...36,978,399 		JBrowse link
G EFHC1 EF-hand domain containing 1 ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:20,068,287...20,131,621
Ensembl chr12:20,067,881...20,131,619 		JBrowse link
G SCN3A sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7 ClinVar PMID:25741868 NCBI chr36:10,300,091...10,405,361
Ensembl chr36:10,302,191...10,377,923 		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 ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized 8 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 8 ClinVar
OMIM		 PMID:791660 PMID:1302026 PMID:7054696 PMID:7726161 PMID:7791841 More... NCBI chr33:25,340,822...25,432,814
Ensembl chr33:25,405,846...25,432,559 		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 ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 9 | ClinVar Annotator: match by term: Epilepsy, juvenile myoclonic, susceptibility to, 6 ClinVar
OMIM		 PMID:10762541 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:52,987,170...53,116,410
Ensembl chr19:52,993,618...53,116,140
Ensembl chr19:52,993,618...53,116,140 		JBrowse link
myoclonic-atonic epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARPC4 actin related protein 2/3 complex subunit 4 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr20:8,441,994...8,453,131
Ensembl chr20:8,442,788...8,453,057 		JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr 1:112,325,988...112,346,056
Ensembl chr 1:112,325,289...112,346,916 		JBrowse link
G ATP2B2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr20:7,665,468...8,037,407
Ensembl chr20:7,749,807...8,034,474 		JBrowse link
G BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr20:8,220,109...8,231,337
Ensembl chr20:8,221,575...8,231,258 		JBrowse link
G BRPF1 bromodomain and PHD finger containing 1 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr20:8,493,183...8,508,785
Ensembl chr20:8,493,167...8,506,449 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25735478 PMID:25741868 PMID:28492532 PMID:28566750 PMID:30142438 More... NCBI chr20:48,747,087...49,036,627
Ensembl chr20:48,821,025...49,036,032 		JBrowse link
G CAMK1 calcium/calmodulin dependent protein kinase I ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr20:8,475,902...8,486,214
Ensembl chr20:8,475,716...8,486,214 		JBrowse link
G CCDC120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:42,206,553...42,217,607
Ensembl chr  X:42,210,804...42,216,993 		JBrowse link
G CHD2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset ClinVar PMID:23708187 PMID:24207121 PMID:25741868 PMID:25783594 PMID:28492532 More... NCBI chr 3:47,101,789...47,221,473
Ensembl chr 3:47,105,046...47,221,385 		JBrowse link
G CIDEC cell death inducing DFFA like effector c ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr20:8,386,334...8,402,076
Ensembl chr20:8,386,415...8,401,774 		JBrowse link
G CPNE9 copine family member 9 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr20:8,511,267...8,529,630
Ensembl chr20:8,511,350...8,529,473 		JBrowse link
G CRELD1 cysteine rich with EGF like domains 1 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr20:8,333,911...8,342,429 JBrowse link
G DNM1 dynamin 1 ISO RGD PMID:27363778 RGD:11557016 NCBI chr 9:55,252,802...55,298,244
Ensembl chr 9:55,252,347...55,298,244 		JBrowse link
G EMC3 ER membrane protein complex subunit 3 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr20:8,297,263...8,316,405
Ensembl chr20:8,297,274...8,315,426 		JBrowse link
G FANCD2 FA complementation group D2 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr20:8,240,270...8,297,269
Ensembl chr20:8,240,311...8,297,568 		JBrowse link
G FANCD2OS FANCD2 opposite strand ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr20:8,236,303...8,239,662
Ensembl chr20:8,236,445...8,239,193 		JBrowse link
G FGF12 fibroblast growth factor 12 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:25741868 PMID:27164707 PMID:27830185 PMID:27872899 PMID:28492532 More... NCBI chr34:23,818,445...24,357,825
Ensembl chr34:23,819,686...24,357,373 		JBrowse link
G FMR1 Fragile X messenger ribonucleoprotein 1 ISO protein:decreased expression:hippocampus, cytosol (rat) RGD PMID:23831253 RGD:11667971 NCBI chr  X:116,249,079...116,287,008
Ensembl chr  X:116,249,142...116,321,439 		JBrowse link
G GHRL ghrelin and obestatin prepropeptide ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr20:8,092,921...8,097,512
Ensembl chr20:8,092,957...8,097,510 		JBrowse link
G IL17RC interleukin 17 receptor C ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr20:8,342,622...8,355,996
Ensembl chr20:8,334,345...8,355,387 		JBrowse link
G IL17RE interleukin 17 receptor E ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr20:8,356,150...8,376,175
Ensembl chr20:8,356,728...8,367,658 		JBrowse link
G IQSEC2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr  X:44,861,813...44,915,011
Ensembl chr  X:44,872,888...44,913,704 		JBrowse link
G IRAK2 interleukin 1 receptor associated kinase 2 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr20:8,133,987...8,197,009
Ensembl chr20:8,134,970...8,196,910 		JBrowse link
G JAGN1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr20:8,372,981...8,376,089
Ensembl chr20:8,373,316...8,376,085 		JBrowse link
G LIMK1 LIM domain kinase 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar NCBI chr 6:6,263,374...6,285,734
Ensembl chr 6:6,264,548...6,286,026 		JBrowse link
G MTMR14 myotubularin related protein 14 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr20:8,530,682...8,576,911
Ensembl chr20:8,530,711...8,576,913 		JBrowse link
G OGG1 8-oxoguanine DNA glycosylase ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr20:8,486,150...8,491,448
Ensembl chr20:8,480,005...8,491,264 		JBrowse link
G PIK3AP1 phosphoinositide-3-kinase adaptor protein 1 ISO ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:25741868 PMID:28492532 NCBI chr28:9,977,463...10,095,363
Ensembl chr28:9,978,900...10,095,284 		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:42,218,038...42,221,075
Ensembl chr  X:42,218,046...42,226,422 		JBrowse link
G PRRT3 proline rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr20:8,325,232...8,333,155
Ensembl chr20:8,328,943...8,332,954 		JBrowse link
G RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:32004447 NCBI chr 8:14,221,516...14,463,481
Ensembl chr 8:14,222,749...14,462,998 		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 chr 6:34,218,276...36,255,529
Ensembl chr 6:34,220,648...36,255,384 		JBrowse link
G RPUSD3 RNA pseudouridine synthase D3 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr20:8,406,549...8,414,029
Ensembl chr20:8,406,571...8,413,004 		JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:18930999 PMID:19563458 PMID:20452746 PMID:22848613 PMID:25741868 More... NCBI chr36:11,105,936...11,245,978
Ensembl chr36:11,108,050...11,183,496 		JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:19710327 PMID:25741868 PMID:28218389 PMID:28492532 PMID:37845033 NCBI chr 1:117,504,428...117,510,666
Ensembl chr 1:117,503,828...117,511,727 		JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood ClinVar PMID:25741868 NCBI chr36:10,472,496...10,605,055
Ensembl chr36:10,472,361...10,602,685 		JBrowse link
G SEC13 SEC13 homolog, nuclear pore and COPII coat complex component ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr20:8,041,485...8,075,078
Ensembl chr20:8,041,544...8,075,076 		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:25741868 PMID:26384929 PMID:27261973 More... NCBI chr 5:30,655,167...30,677,551
Ensembl chr 5:30,655,760...30,674,653 		JBrowse link
G SLC6A1 solute carrier family 6 member 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Infantile spasm | ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder
ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder		 OMIM
ClinVar		 PMID:9536098 PMID:14744863 PMID:15496410 PMID:16199547 PMID:17576681 More... NCBI chr20:7,341,071...7,383,197
Ensembl chr20:7,341,072...7,383,287 		JBrowse link
G SLC6A11 solute carrier family 6 member 11 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr20:7,431,015...7,559,903
Ensembl chr20:7,433,194...7,560,564 		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 chr38:2,506,617...2,741,866 JBrowse link
G STXBP1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy | ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:18414213 PMID:20887364 PMID:22612257 PMID:24781210 PMID:25356970 More... NCBI chr 9:55,690,939...55,768,008
Ensembl chr 9:55,678,264...55,727,680 		JBrowse link
G TADA3 transcriptional adaptor 3 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr20:8,453,269...8,464,921
Ensembl chr20:8,453,489...8,464,913 		JBrowse link
G TATDN2 TatD DNase domain containing 2 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr20:8,101,994...8,131,578 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 chr 6:38,531,547...38,557,472 JBrowse link
G TTLL3 tubulin tyrosine ligase like 3 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr20:8,414,289...8,439,071
Ensembl chr20:8,415,723...8,439,056 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr20:8,206,616...8,211,347
Ensembl chr20:8,206,616...8,211,323 		JBrowse link
G WDR45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:42,221,261...42,237,535
Ensembl chr  X:42,218,046...42,226,422 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15721
    disease of anatomical entity 15367
      nervous system disease 13480
        central nervous system disease 12042
          brain disease 11318
            epilepsy 2964
              Generalized Epilepsy 464
                idiopathic generalized epilepsy 312
                  Childhood Absence Epilepsy 6 1
                  Idiopathic Generalized Epilepsy 16 1
                  Idiopathic Generalized Epilepsy 18 1
                  generalized epilepsy with febrile seizures plus + 28
                  idiopathic generalized epilepsy 10 + 1
                  idiopathic generalized epilepsy 11 1
                  idiopathic generalized epilepsy 12 1
                  idiopathic generalized epilepsy 13 1
                  idiopathic generalized epilepsy 14 1
                  idiopathic generalized epilepsy 15 1
                  idiopathic generalized epilepsy 2 0
                  idiopathic generalized epilepsy 3 0
                  idiopathic generalized epilepsy 4 0
                  idiopathic generalized epilepsy 5 0
                  idiopathic generalized epilepsy 7 3
                  idiopathic generalized epilepsy 8 1
                  idiopathic generalized epilepsy 9 1
                  myoclonic-atonic epilepsy 48
paths to the root