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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.

show annotations for term's descendants           Sort by:
 
Generalized Epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar NCBI chr  X:84,752,284...84,825,414 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 chr11:55,845,695...55,893,253
Ensembl chr11:55,847,808...55,893,257 		JBrowse link
G ANP32B acidic nuclear phosphoprotein 32 family member B ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:55,230,017...55,272,744
Ensembl chr11:55,243,854...55,350,194 		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 3:54,509,753...54,539,520
Ensembl chr 3:54,508,627...54,539,505 		JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:32581362 NCBI chr 1:112,325,988...112,346,056
Ensembl chr 1:112,325,289...112,346,916 		JBrowse link
G ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:16538223 PMID:22117059 PMID:25741868 PMID:28492532 NCBI chr38:22,023,176...22,080,656
Ensembl chr38:22,023,221...22,080,604 		JBrowse link
G ATP7B ATPase copper transporting beta ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:2679931 PMID:9671269 PMID:10790207 PMID:11243728 PMID:12885331 PMID:15811015 PMID:16207219 PMID:16684691 PMID:16791614 PMID:18414213 PMID:20517649 PMID:21610751 PMID:22484412 PMID:22677543 PMID:22692182 PMID:23518715 PMID:23551039 PMID:23789284 PMID:24517292 PMID:25390358 PMID:25741868 PMID:25825851 PMID:26764160 PMID:26799313 PMID:28492532 PMID:30097039 PMID:30232804 PMID:32043565 PMID:32154060 NCBI chr22:162,474...225,599
Ensembl chr22:191,888...225,266 		JBrowse link
G AVEN apoptosis and caspase activation inhibitor ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25262651 PMID:28492532 NCBI chr30:1,000,781...1,179,463
Ensembl chr30:991,954...1,179,114 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO RGD PMID:11342703 RGD:734669 NCBI chr20:48,747,087...49,036,627
Ensembl chr20:48,821,025...49,036,032 		JBrowse link
G CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar NCBI chr20:38,859,047...38,995,239
Ensembl chr20:38,883,530...38,993,273 		JBrowse link
G CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:10762541 RGD:734674 NCBI chr19:52,987,170...53,116,410
Ensembl chr19:52,993,618...53,116,140 		JBrowse link
G CDKL5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:18414213 PMID:20397747 PMID:25741868 PMID:28492532 NCBI chr  X:14,512,226...14,725,348
Ensembl chr  X:14,512,178...14,725,233 		JBrowse link
G CHRNA7 cholinergic receptor nicotinic alpha 7 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:19136953 NCBI chr 3:36,852,082...37,164,930
Ensembl chr 3:36,852,543...36,978,399 		JBrowse link
G CORO2A coronin 2A ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:55,345,577...55,400,092
Ensembl chr11:55,345,934...55,372,374 		JBrowse link
G FASN fatty acid synthase ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:21937992 PMID:25741868 PMID:28492532 NCBI chr 9:233,105...249,573
Ensembl chr 9:232,963...249,092 		JBrowse link
G FOXE1 forkhead box E1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:55,143,389...55,145,954 JBrowse link
G GABBR2 gamma-aminobutyric acid type B receptor subunit 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 PMID:26740508 PMID:27541642 PMID:28492532 PMID:28590052 PMID:28856709 PMID:29100083 NCBI chr11:55,469,327...55,817,930
Ensembl chr11:55,470,197...55,817,945 		JBrowse link
G GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 PMID:32581362 NCBI chr 3:33,878,948...34,101,987
Ensembl chr 3:33,878,904...34,097,764 		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 5:56,984,786...56,994,790
Ensembl chr 5:56,984,913...56,994,358 		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 chr 2:59,805,675...59,980,782
Ensembl chr 2:59,806,689...59,980,398 		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:94,729,828...95,006,244
Ensembl chr  X:94,730,943...95,004,279 		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 chr 6:32,132,070...32,678,319
Ensembl chr 6:32,303,121...32,668,960 		JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 NCBI chr27:32,470,889...32,883,606
Ensembl chr27:32,471,153...32,877,680 		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 4:64,777,069...65,162,603
Ensembl chr 4:64,775,577...65,160,444 		JBrowse link
G HEMGN hemogen ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:55,208,038...55,223,487
Ensembl chr11:55,208,327...55,219,643 		JBrowse link
G HNRNPU heterogeneous nuclear ribonucleoprotein U ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25326635 PMID:25741868 PMID:28815871 NCBI chr 7:35,832,956...35,842,898
Ensembl chr 7:35,833,988...35,843,754 		JBrowse link
G IDUA alpha-L-iduronidase ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar NCBI chr 3:91,517,225...91,534,593
Ensembl chr 3:91,522,035...91,534,593 		JBrowse link
G JRK Jrk helix-turn-helix protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11463517 NCBI chr13:36,754,771...36,767,799 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 chr24:36,016,800...36,118,873
Ensembl chr24:36,025,472...36,117,934 		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 chr24:47,060,527...47,089,077
Ensembl chr24:47,060,245...47,089,711 		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 9:49,532,073...49,581,332
Ensembl chr 9:49,532,922...49,593,633 		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
G LOC609612 folate receptor alpha ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar NCBI chr21:25,944,350...25,951,010 JBrowse link
G MAPK10 mitogen-activated protein kinase 10 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar NCBI chr32:9,584,437...9,889,118
Ensembl chr32:9,575,492...9,884,325 		JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 NCBI chr  X:121,866,721...121,876,088
Ensembl chr  X:121,873,218...121,932,994 		JBrowse link
G MEF2C myocyte enhancer factor 2C ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:32581362 NCBI chr 3:19,778,997...19,948,203
Ensembl chr 3:19,779,007...19,943,852 		JBrowse link
G MTRFR mitochondrial translation release factor in rescue ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:20598281 PMID:25326635 PMID:25741868 PMID:26539891 PMID:32581362 NCBI chr26:6,296,859...6,310,684
Ensembl chr26:6,296,266...6,310,669 		JBrowse link
G NANS N-acetylneuraminate synthase ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:55,286,290...55,310,904
Ensembl chr11:55,243,854...55,350,194 		JBrowse link
G NCBP1 nuclear cap binding protein subunit 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:54,938,250...54,974,536
Ensembl chr11:54,938,372...54,974,547 		JBrowse link
G OTUD7A OTU deubiquitinase 7A ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:31997314 NCBI chr 3:37,348,167...37,548,357
Ensembl chr 3:37,348,170...37,548,885 		JBrowse link
G PGK1 phosphoglycerate kinase 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 NCBI chr  X:60,374,743...60,396,244
Ensembl chr  X:60,374,754...60,423,947 		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 1:106,695,649...106,707,229
Ensembl chr 1:106,694,589...106,702,150 		JBrowse link
G PURA purine rich element binding protein A ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:32581362 NCBI chr 2:35,325,630...35,345,366
Ensembl chr 2:35,330,902...35,332,835 		JBrowse link
G RS1 retinoschisin 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:14,727,016...14,749,674
Ensembl chr  X:14,727,062...14,749,492 		JBrowse link
G RYR3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25262651 PMID:25741868 PMID:28492532 PMID:29498452 NCBI chr30:1,179,575...1,533,352
Ensembl chr30:1,180,359...1,533,619 		JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar Annotator: match by term: Generalized epilepsy		 CTD
ClinVar		 PMID:11359211 PMID:14504318 PMID:17054684 PMID:17347258 PMID:18930999 PMID:21480876 PMID:21719429 PMID:25741868 PMID:26096185 PMID:26993267 PMID:28492532 PMID:32581362 NCBI 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: 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 chr36:10,472,496...10,605,055
Ensembl chr36:10,472,361...10,602,685 		JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:24888894 PMID:25568300 PMID:25741868 PMID:25951352 PMID:26029160 PMID:26900580 PMID:27864847 PMID:28492532 PMID:28923014 PMID:30171078 PMID:30615093 NCBI chr27:3,174,257...3,348,349
Ensembl chr27:3,176,013...3,296,482 		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:30809705 PMID:31536183 NCBI chr 9:1,540,933...1,547,029
Ensembl chr 9:1,540,932...1,547,029 		JBrowse link
G SLC13A5 solute carrier family 13 member 5 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:32581362 NCBI chr 5:30,655,167...30,677,551
Ensembl chr 5:30,655,760...30,674,653 		JBrowse link
G SLC26A1 solute carrier family 26 member 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar NCBI chr 3:91,528,045...91,534,104
Ensembl chr 3:91,485,270...91,534,115 		JBrowse link
G SLC35A2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar NCBI chr  X:42,060,568...42,071,330
Ensembl chr  X:42,052,781...42,071,012 		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 9:55,690,939...55,768,008
Ensembl chr 9:55,678,264...55,727,680 		JBrowse link
G SYNGAP1 synaptic Ras GTPase activating protein 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 NCBI chr12:2,829,274...2,862,888
Ensembl chr12:2,829,306...2,851,432 		JBrowse link
G TBC1D2 TBC1 domain family member 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:55,404,468...55,455,061
Ensembl chr11:55,404,506...55,454,890 		JBrowse link
G TDRD7 tudor domain containing 7 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:54,758,092...54,828,766
Ensembl chr11:54,758,826...54,828,743 		JBrowse link
G TMOD1 tropomodulin 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:54,853,205...54,914,236
Ensembl chr11:54,853,204...54,912,773 		JBrowse link
G TRIM14 tripartite motif containing 14 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:55,313,700...55,343,217
Ensembl chr11:55,316,111...55,343,287 		JBrowse link
G TRIT1 tRNA isopentenyltransferase 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 NCBI chr15:3,013,928...3,071,029
Ensembl chr15:3,013,666...3,071,034 		JBrowse link
G TRMO tRNA methyltransferase O ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:55,185,752...55,202,885
Ensembl chr11:55,147,629...55,202,827 		JBrowse link
G TSTD2 thiosulfate sulfurtransferase like domain containing 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:54,914,459...54,938,156
Ensembl chr11:54,914,991...54,937,831 		JBrowse link
G UGDH UDP-glucose 6-dehydrogenase ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 PMID:32001716 PMID:32860008 NCBI chr 3:72,935,532...72,964,151
Ensembl chr 3:72,839,920...72,963,208 		JBrowse link
G USP19 ubiquitin specific peptidase 19 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar NCBI chr20:40,062,802...40,074,221
Ensembl chr20:40,064,599...40,074,082 		JBrowse link
G WASF1 WASP family member 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:29961568 PMID:32581362 NCBI chr12:66,833,776...66,897,500
Ensembl chr12:66,833,995...66,897,483 		JBrowse link
G WWOX WW domain containing oxidoreductase ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 NCBI chr 5:72,298,254...73,243,667
Ensembl chr 5:72,299,157...73,261,406 		JBrowse link
G XPA XPA, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:54,976,978...54,996,140
Ensembl chr11:54,976,976...54,996,065 		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 NCBI chr19:46,419,812...46,541,888
Ensembl chr19:46,423,998...46,542,122 		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 OMIM NCBI chr 6:17,872,670...17,877,502
Ensembl chr 6:17,873,521...17,903,184 		JBrowse link
Benign Familial Infantile Seizures, 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNQ3 potassium voltage-gated channel subfamily Q member 3 ISO ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 5 ClinVar PMID:23020937 PMID:23934111 PMID:25740509 PMID:25741868 PMID:26350515 PMID:28135719 PMID:28492532 PMID:28628100 PMID:29655203 PMID:30578330 PMID:31177578 PMID:31238879 NCBI chr13:28,765,472...29,062,371
Ensembl chr13:28,773,738...29,062,370 		JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 ISO OMIM NCBI chr27:3,174,257...3,348,349
Ensembl chr27:3,176,013...3,296,482 		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 ISO DNA:mutation:cds:752T>A (p.M251K)(rat)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:17196942 RGD:1598976 NCBI chr20:48,747,087...49,036,627
Ensembl chr20:48,821,025...49,036,032 		JBrowse link
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, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 6
ClinVar Annotator: match by term: CACNA1H-related disorder
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:12891677 PMID:14729682 PMID:15048902 PMID:15852375 PMID:15888660 PMID:17696120 PMID:25741868 PMID:26467025 PMID:28492532 RGD:1358447 NCBI chr 6:39,510,129...39,533,129
Ensembl chr 6:39,510,121...39,533,753 		JBrowse link
G CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14660671 NCBI chr20:38,859,047...38,995,239
Ensembl chr20:38,883,530...38,993,273 		JBrowse link
G CACNG2 calcium voltage-gated channel auxiliary subunit gamma 2 ISO mRNA,protein:increased expression:somatosensory cortex, primary motor cortex RGD PMID:18556211 RGD:13524553 NCBI chr10:27,750,314...27,862,646
Ensembl chr10:27,750,935...27,862,885 		JBrowse link
G CACNG3 calcium voltage-gated channel auxiliary subunit gamma 3 ISO RGD PMID:11904235 RGD:728397 NCBI chr 6:21,626,977...21,712,331
Ensembl chr 6:21,627,547...21,711,635 		JBrowse link
G EFHC1 EF-hand domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:20,068,287...20,131,621
Ensembl chr12:20,067,881...20,131,619 		JBrowse link
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 ISO ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 4 ClinVar PMID:16530959 PMID:16569738 PMID:16718694 PMID:24623842 PMID:25741868 PMID:26467025 PMID:26918889 PMID:27521439 PMID:28251550 PMID:28492532 NCBI 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: Childhood absence epilepsy ClinVar PMID:28492532 NCBI chr 4:49,208,691...49,225,754
Ensembl chr 4:49,208,605...49,226,212 		JBrowse link
G GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 susceptibility ISO ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
DNA:SNPs
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
RGD
CTD		 PMID:16835263 PMID:18514161 PMID:19935738 PMID:20550555 PMID:24088041 PMID:25726841 PMID:25741868 PMID:26467025 PMID:26633545 PMID:26845707 PMID:26950270 PMID:28492532 RGD:1601269 NCBI chr 3:33,878,948...34,101,987
Ensembl chr 3:33,878,904...34,097,764 		JBrowse link
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 ISO DNA:snp:intron:IVS6+2T>G (human) RGD PMID:12117362 RGD:1358631 NCBI chr 4:48,794,770...48,901,859
Ensembl chr 4:48,796,852...48,901,548 		JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO protein:increased expression:thalamus RGD PMID:10975907 RGD:6484590 NCBI chr 4:34,629,046...34,662,711 JBrowse link
G GRIK1 glutamate ionotropic receptor kainate type subunit 1 ISO RGD PMID:9259378 RGD:1358334 NCBI chr31:24,477,319...24,839,502
Ensembl chr31:24,478,696...24,839,434 		JBrowse link
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO RGD PMID:15182313 RGD:9686420 NCBI chr 4:64,777,069...65,162,603
Ensembl chr 4:64,775,577...65,160,444 		JBrowse link
G HTR7 5-hydroxytryptamine receptor 7 ISO RGD PMID:15050708 RGD:6480686 NCBI chr28:5,438,872...5,524,385
Ensembl chr28:5,440,388...5,524,191 		JBrowse link
G JRK Jrk helix-turn-helix protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11463517 NCBI chr13:36,754,771...36,767,799 JBrowse link
G KCNK9 potassium two pore domain channel subfamily K member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15781965 NCBI chr13:34,461,430...34,475,070
Ensembl chr13:34,473,488...34,474,866 		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 1:117,443,569...117,452,367
Ensembl chr 1:117,444,941...117,452,381 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:20303372 RGD:8547934 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293 		JBrowse link
G NPY neuropeptide Y treatment ISO RGD PMID:17331209 PMID:24039965 RGD:10448963 RGD:10448964 NCBI chr14:37,824,579...37,831,289
Ensembl chr14:37,823,861...37,831,443 		JBrowse link
G NPY1R neuropeptide Y receptor Y1 treatment ISO RGD PMID:17331209 RGD:10448963 NCBI chr15:59,580,546...59,587,753
Ensembl chr15:59,580,809...59,583,237 		JBrowse link
G NPY2R neuropeptide Y receptor Y2 treatment ISO RGD PMID:17331209 RGD:10448963 NCBI chr15:52,790,136...52,797,785
Ensembl chr15:52,794,671...52,795,818 		JBrowse link
G NPY5R neuropeptide Y receptor Y5 treatment ISO RGD PMID:17331209 RGD:10448963 NCBI chr15:59,600,212...59,608,576
Ensembl chr15:59,606,902...59,608,273 		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 1:117,504,428...117,510,666
Ensembl chr 1:117,503,828...117,511,727 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 onset ISO DNA:deletion, missense mutations, SNP:multiple RGD PMID:26537434 RGD:11058811 NCBI chr15:463,307...493,145
Ensembl chr15:463,237...493,140 		JBrowse link
G YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta ISO protein:increased expression:parietal lobe RGD PMID:21310218 RGD:9587483 NCBI chr13:2,729,404...2,764,422 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 3:34,841,218...35,028,718
Ensembl chr 3:34,841,073...35,028,040 		JBrowse link
G GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 1 ClinVar PMID:11198279 PMID:28492532 NCBI chr 3:33,663,414...33,746,120
Ensembl chr 3:33,664,169...33,744,328 		JBrowse link
G GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 1
ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 1		 ClinVar PMID:2828157 PMID:11198279 PMID:11742254 PMID:12189488 PMID:18514161 PMID:19935738 PMID:20550555 PMID:23495136 PMID:23934111 PMID:24909990 PMID:25533962 PMID:25726841 PMID:25741868 PMID:25849321 PMID:26068938 PMID:26467025 PMID:26704558 PMID:26845707 PMID:26950270 PMID:27476654 PMID:27622563 PMID:28053010 PMID:28281572 PMID:28492532 PMID:28544625 PMID:28607477 PMID:29961870 NCBI chr 3:33,878,948...34,101,987
Ensembl chr 3:33,878,904...34,097,764 		JBrowse link
G RORB RAR related orphan receptor B ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 1 ClinVar PMID:25950944 NCBI chr 1:83,470,569...83,666,200
Ensembl chr 1:83,476,816...83,666,061 		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 gamma2 ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 2
ClinVar Annotator: match by term: GABRG2-Related Disorder		 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 chr 4:48,794,770...48,901,859
Ensembl chr 4:48,796,852...48,901,548 		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:42,206,553...42,217,607
Ensembl chr  X:42,210,804...42,216,993 		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:14,512,226...14,725,348
Ensembl chr  X:14,512,178...14,725,233 		JBrowse link
G CHD2 chromodomain helicase DNA binding protein 2 ISO OMIM NCBI chr 3:47,101,789...47,221,473
Ensembl chr 3:47,105,046...47,221,385 		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 FGF12 fibroblast growth factor 12 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:25741868 PMID:27164707 PMID:27830185 NCBI chr34:23,818,445...24,357,825
Ensembl chr34:23,819,686...24,357,373 		JBrowse link
G FMR1 FMRP translational regulator 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 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 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 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:14,727,016...14,749,674
Ensembl chr  X:14,727,062...14,749,492 		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 chr 5:30,655,167...30,677,551
Ensembl chr 5:30,655,760...30,674,653 		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 PMID:18414213 PMID:24781210 PMID:25356970 PMID:25741868 PMID:26795593 PMID:26865513 PMID:26993267 PMID:28492532 PMID:29264391 NCBI chr 9:55,690,939...55,768,008
Ensembl chr 9:55,678,264...55,727,680 		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 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
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:84,752,284...84,825,414 JBrowse link
G ARX aristaless related homeobox ISO OMIM NCBI chr  X:20,545,346...20,556,206
Ensembl chr  X:20,545,346...20,556,206 		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 chr20:48,747,087...49,036,627
Ensembl chr20:48,821,025...49,036,032 		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 chr 6:38,572,883...38,592,465
Ensembl chr 6:38,574,234...38,592,435 		JBrowse link
G CSNK1E casein kinase 1 epsilon ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar NCBI chr10:26,386,646...26,412,429
Ensembl chr10:26,393,033...26,411,624 		JBrowse link
G GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr 3:33,878,948...34,101,987
Ensembl chr 3:33,878,904...34,097,764 		JBrowse link
G GNAO1 G protein subunit alpha o1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr 2:59,805,675...59,980,782
Ensembl chr 2:59,806,689...59,980,398 		JBrowse link
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24747641 NCBI chr 4:64,777,069...65,162,603
Ensembl chr 4:64,775,577...65,160,444 		JBrowse link
G KCNA2 potassium voltage-gated channel subfamily A member 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:8663992 PMID:8663993 PMID:15694325 PMID:16002579 PMID:21044565 PMID:25477152 PMID:25741868 PMID:25751627 PMID:27733563 PMID:28492532 NCBI chr 6:41,405,453...41,415,727
Ensembl chr 6:41,407,070...41,408,823 		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 chr24:47,060,527...47,089,077
Ensembl chr24:47,060,245...47,089,711 		JBrowse link
G MAF MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome		 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 PMID:29390993 NCBI chr 5:71,965,291...71,982,903
Ensembl chr 5:71,965,500...71,981,735 		JBrowse link
G NAPB NSF attachment protein beta ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar NCBI chr24:217,287...258,278
Ensembl chr24:217,381...255,752 		JBrowse link
G NRXN2 neurexin 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar NCBI chr18:52,439,836...52,537,577
Ensembl chr18:52,439,230...52,536,401 		JBrowse link
G PLCB1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr24:13,337,285...13,996,218
Ensembl chr24:13,322,296...13,995,539 		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:20,227,808...20,537,893
Ensembl chr  X:20,227,886...20,537,902 		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 chr36:11,105,936...11,245,978
Ensembl chr36:11,108,050...11,183,496 		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:42,060,568...42,071,330
Ensembl chr  X:42,052,781...42,071,012 		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 chr15:16,324,752...16,434,256
Ensembl chr15:16,324,899...16,401,616 		JBrowse link
G SYNJ1 synaptojanin 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr31:27,308,169...27,399,226
Ensembl chr31:27,308,169...27,399,197 		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 chr15:16,729,068...16,780,549
Ensembl chr15:16,728,758...16,780,325 		JBrowse link
G TBC1D24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1
ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome		 ClinVar PMID:10574461 PMID:16855591 PMID:18414213 PMID:20727515 PMID:22277662 PMID:23184456 PMID:23526554 PMID:23806086 PMID:24033266 PMID:24088043 PMID:24291220 PMID:24387994 PMID:24848745 PMID:25169651 PMID:25557349 PMID:25719194 PMID:25741868 PMID:25769375 PMID:26207815 PMID:26371875 PMID:26467025 PMID:26668325 PMID:27259978 PMID:27281533 PMID:27502353 PMID:27541164 PMID:28072960 PMID:28292732 PMID:28301460 PMID:28428906 PMID:28492532 PMID:28663785 PMID:29100083 PMID:29358611 PMID:29671961 PMID:30108545 PMID:30180405 PMID:30311386 PMID:30335140 PMID:31112829 PMID:31257402 NCBI chr 6:38,531,547...38,557,472 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 Annotator: match by term: OHTAHARA SYNDROME, X-LINKED		 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 chr 5:72,298,254...73,243,667
Ensembl chr 5:72,299,157...73,261,406 		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:14,263,152...14,324,882
Ensembl chr  X:14,265,296...14,333,751 		JBrowse link
G CDKL5 cyclin dependent kinase like 5 severity ISO DNA:mutations:cds: OMIM
RGD		 PMID:22678952 RGD:12791015 NCBI chr  X:14,512,226...14,725,348
Ensembl chr  X:14,512,178...14,725,233 		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:13,487,919...13,834,869
Ensembl chr  X:13,488,515...13,831,386 		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:13,871,795...14,021,908 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 NCBI chr  X:14,727,016...14,749,674
Ensembl chr  X:14,727,062...14,749,492 		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:13,836,054...13,850,151 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:14,334,769...14,436,614
Ensembl chr  X:14,335,013...14,437,176 		JBrowse link
epilepsy with generalized tonic-clonic seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCHE butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15121994 NCBI chr34:30,912,632...30,977,624
Ensembl chr34:30,912,632...30,977,583 		JBrowse link
G BDNF brain derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480 		JBrowse link
G CYP2D15 cytochrome P450 family 2 subfamily D member 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16835697 NCBI chr10:23,255,259...23,259,380
Ensembl chr10:23,255,249...23,259,298 		JBrowse link
G FGF2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151 		JBrowse link
G HBEGF heparin binding EGF like growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr 2:35,551,248...35,563,310
Ensembl chr 2:35,551,250...35,563,043 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 ISO protein:decreased expression:dorsal plus ventral thalamus, cerebral cortex, astrocyte projection RGD PMID:23603404 RGD:8662897 NCBI chr38:22,114,718...22,143,625
Ensembl chr38:22,130,508...22,140,813 		JBrowse link
G LGI1 leucine rich glioma inactivated 1 ISO RGD PMID:30813600 RGD:14995940 NCBI chr28:7,966,485...8,005,995
Ensembl chr28:7,966,593...8,012,313 		JBrowse link
G LIG1 DNA ligase 1 ISO RGD PMID:30813600 RGD:14995940 NCBI chr 1:108,105,523...108,143,954
Ensembl chr 1:108,105,987...108,143,953 		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 chr19:49,815,388...50,250,071
Ensembl chr19:50,186,364...50,247,398 		JBrowse link
G NES nestin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16137769 NCBI chr 7:41,296,395...41,305,641
Ensembl chr 7:41,295,989...41,303,736 		JBrowse link
G NGF nerve growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr17:52,900,647...52,901,607
Ensembl chr17:52,900,647...52,901,607 		JBrowse link
G NTF3 neurotrophin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr27:39,383,017...39,454,613
Ensembl chr27:39,383,152...39,454,601 		JBrowse link
G OXT oxytocin/neurophysin I prepropeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:4988877 PMID:6407273 NCBI chr24:18,193,381...18,194,232
Ensembl chr24:18,193,339...18,194,170 		JBrowse link
G PCDH19 protocadherin 19 ISO ClinVar Annotator: match by term: Tonic-clonic convulsions ClinVar NCBI chr  X:74,179,609...74,319,138
Ensembl chr  X:74,184,772...74,317,391 		JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:4371370 NCBI chr17:19,431,396...19,438,247
Ensembl chr17:19,431,585...19,434,440 		JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: tonic-clonic convulsions ClinVar PMID:11254445 PMID:18021921 PMID:21396429 PMID:22550089 PMID:22780858 PMID:23398611 PMID:25741868 PMID:26990884 PMID:28492532 PMID:29358611 NCBI chr36:11,105,936...11,245,978
Ensembl chr36:11,108,050...11,183,496 		JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Tonic-clonic convulsions ClinVar PMID:25741868 NCBI chr27:3,174,257...3,348,349
Ensembl chr27:3,176,013...3,296,482 		JBrowse link
G SLC25A24 solute carrier family 25 member 24 ISO ClinVar Annotator: match by term: Tonic-clonic convulsions ClinVar PMID:25741868 NCBI chr 6:43,424,079...43,476,861 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 9:54,953,751...55,015,475
Ensembl chr 9:54,953,747...55,015,376 		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 OMIM NCBI chr 4:26,844,250...27,338,271
Ensembl chr 4:26,844,250...27,555,776 		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 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 DNA:missense mutation:cds:p.V1417A (human)
ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus		 RGD
ClinVar		 PMID:11823106 PMID:24337656 PMID:25741868 PMID:26467025 PMID:28492532 RGD:1358571 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:5421039 PMID:9461582 PMID:9539778 PMID:9697698 PMID:9894880 PMID:11254444 PMID:11263970 PMID:11866477 PMID:12011299 PMID:12486163 PMID:14504340 PMID:14690046 PMID:15710580 PMID:15857929 PMID:16205844 PMID:17020904 PMID:17928445 PMID:18941776 PMID:20437590 PMID:20628201 PMID:21994374 PMID:22292491 PMID:22425777 PMID:23527921 PMID:23584539 PMID:24065921 PMID:24567321 PMID:24605816 PMID:24623842 PMID:24747835 PMID:25741868 PMID:25827112 PMID:26467025 PMID:27216889 PMID:27277800 PMID:28331474 PMID:28492532 PMID:206282012 NCBI chr 1:117,504,428...117,510,666
Ensembl chr 1:117,503,828...117,511,727 		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 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 NCBI chr24:27,142,153...27,146,986
Ensembl chr24:27,142,423...27,146,262 		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 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 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 OMIM 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 OMIM 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 SCN1A sodium voltage-gated channel alpha subunit 1 ISO OMIM 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 SCN9A sodium voltage-gated channel alpha subunit 9 ISO OMIM NCBI chr36:11,287,358...11,382,897
Ensembl chr36:11,290,625...11,383,255 		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 OMIM 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 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 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 PMID:29100083 PMID:29358611 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 PMID:23216579 PMID:26467025 PMID:28383543 PMID:28492532 NCBI chr 5:56,984,786...56,994,790
Ensembl chr 5:56,984,913...56,994,358 		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 chr 6:38,679,312...38,712,868
Ensembl chr 6:38,679,324...38,712,648 		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 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 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 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 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 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 C6H16orf91 chromosome 6 C16orf91 homolog 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 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 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Idiopathic generalized epilepsy		 CTD
ClinVar		 PMID:10762541 PMID:18755274 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:52,987,170...53,116,410
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 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Idiopathic generalized epilepsy		 CTD
ClinVar		 PMID:25741868 NCBI chr33:25,340,822...25,432,814
Ensembl chr33:25,405,846...25,432,559 		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 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 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 PMID:29539279 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 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 DNASE1L2 deoxyribonuclease 1 like 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532
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 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 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 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 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 GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:16530959 PMID:16569738 PMID:16718694 PMID:18414213 PMID:22190369 PMID:24623842 PMID:24811917 PMID:25741868 PMID:26467025 PMID:26918889 PMID:27353043 PMID:27521439 PMID:27622563 PMID:28251550 PMID:28492532 PMID:28864462 PMID:29186148 PMID:29655203 PMID:32238909 NCBI 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: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: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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Idiopathic generalized epilepsy		 CTD
ClinVar		 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 5:56,984,786...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:22190369 PMID:24811917 PMID:28492532 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 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 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 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 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 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 LOC119881520 phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532
G LOC489590 solute carrier family 35 member E2A 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 LOC489591 cyclin-dependent kinase 11B ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:56,698,267...56,714,075 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 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 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 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 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 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 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 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 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 nucleotide binding protein 2 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 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 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 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: Idiopathic generalized epilepsy ClinVar PMID:23286373 PMID:25741868 PMID:26467025 PMID:28346479 PMID:28492532 PMID:29358611 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: Idiopathic generalized epilepsy ClinVar 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 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 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 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 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 SLC9A3R2 SLC9A3 regulator 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 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 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 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 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 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 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 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 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 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 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 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
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		 OMIM
ClinVar		 PMID:15115768 PMID:16023832 PMID:16256272 PMID:16452673 PMID:17559416 PMID:23216579 PMID:25194483 PMID:25741868 PMID:26467025 PMID:28383543 PMID:28492532 NCBI chr 5:56,984,786...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, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11
ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8		 OMIM
ClinVar		 PMID:12612585 PMID:15252188 PMID:15505175 PMID:16932951 PMID:17567819 PMID:19191339 PMID:19710712 PMID:21703448 PMID:25741868 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 susceptibility ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 12 OMIM
ClinVar		 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 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		 OMIM
ClinVar		 PMID:11992121 PMID:16530959 PMID:16569738 PMID:18414213 PMID:18534981 PMID:20551311 PMID:21714819 PMID:24623842 PMID:25741868 PMID:26467025 PMID:26918889 PMID:27521439 PMID:28251550 PMID:28492532 NCBI 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 susceptibility ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 14 OMIM
ClinVar		 PMID:24668262 PMID:24928908 PMID:25741868 PMID:27535533 PMID:28492532 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:25356972 PMID:25741868 PMID:27352968 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 susceptibility ISO ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 16 OMIM
ClinVar		 PMID:25741868 NCBI chr 4:26,844,250...27,338,271
Ensembl chr 4:26,844,250...27,555,776 		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 3:36,852,082...37,164,930
Ensembl chr 3:36,852,543...36,978,399 		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 OMIM
ClinVar		 PMID:18756473 PMID:20798521 PMID:28492532 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 susceptibility ISO ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6
ClinVar Annotator: match by term: Epilepsy, idiopathic generalized 9		 OMIM
ClinVar		 PMID:10762541 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:52,987,170...53,116,410
Ensembl chr19:52,993,618...53,116,140 		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 OMIM NCBI chr32:22,688,141...22,996,693
Ensembl chr32:22,688,143...22,996,688 		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 beta2 ISO OMIM NCBI chr 4:49,342,527...49,579,697
Ensembl chr 4:49,342,508...49,578,092 		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 OMIM NCBI chr33:18,038,143...18,103,649
Ensembl chr33:18,038,801...18,101,435 		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 chr12:20,068,287...20,131,621
Ensembl chr12:20,067,881...20,131,619 		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 OMIM NCBI chr20:7,341,071...7,383,197
Ensembl chr20:7,341,072...7,383,287 		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 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 chr21:12,699,886...12,709,132
Ensembl chr21:12,699,774...12,724,923 		JBrowse link
G NDP norrin cystine knot growth factor NDP ISO OMIM NCBI chr  X:37,949,560...37,975,573
Ensembl chr  X:37,950,489...37,975,346 		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 chr21:12,792,212...12,813,067
Ensembl chr21:12,793,373...12,803,136 		JBrowse link
G TSPAN12 tetraspanin 12 ISO ClinVar Annotator: match by term: Atrophia bulborum hereditaria ClinVar PMID:25250762 NCBI chr14:58,941,658...59,005,507
Ensembl chr14:58,941,551...59,005,463 		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 chr10:56,167,907...56,300,974
Ensembl chr10:56,170,479...56,300,908 		JBrowse link
G IGF1 insulin like growth factor 1 ISO protein:decreased expression:cerebrospinal fluid: RGD PMID:11701291 RGD:8548849 NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794 		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 chr25:50,855,703...50,945,014
Ensembl chr25:50,858,698...50,944,964 		JBrowse link
G ZNHIT3 zinc finger HIT-type containing 3 ISO OMIM NCBI chr 9:36,378,226...36,383,906
Ensembl chr 9:36,378,211...36,383,966 		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 ISO RGD PMID:24321005 RGD:9588540 NCBI chr 6:33,385,779...33,471,348
Ensembl chr 6:33,376,996...33,471,326 		JBrowse link
G ARX aristaless related homeobox ISO RGD PMID:19439424 RGD:11565833 NCBI chr  X:20,545,346...20,556,206
Ensembl chr  X:20,545,346...20,556,206 		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 NCBI chr31:37,230,900...37,247,170 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:14,512,226...14,725,348
Ensembl chr  X:14,512,178...14,725,233 		JBrowse link
G CFL1 cofilin 1 ISO protein:decreased expression:brain (rat) RGD PMID:24994451 RGD:11570411 NCBI chr18:51,404,649...51,408,240
Ensembl chr18:51,401,659...51,408,212 		JBrowse link
G CRH corticotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:11341487 NCBI chr29:15,831,944...15,840,560
Ensembl chr29:15,831,944...15,834,384 		JBrowse link
G GAD1 glutamate decarboxylase 1 ISO ClinVar Annotator: match by term: Infantile spasms ClinVar PMID:22662185 NCBI chr36:15,351,289...15,391,701
Ensembl chr36:15,349,683...15,391,824 		JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16919904 NCBI chr11:8,717,182...8,810,716
Ensembl chr11:8,717,349...8,824,594 		JBrowse link
G LOC481187 protein SCO2 homolog, mitochondrial ISO ClinVar Annotator: match by term: Salaam seizures ClinVar PMID:10852545 PMID:12529715 PMID:19853446 PMID:24033266 PMID:25741868 NCBI chr10:16,783,116...16,790,011
Ensembl chr10:16,788,287...16,790,247 		JBrowse link
G MC2R melanocortin 2 receptor ISO DNA:snps:promoter:multiple (human) RGD PMID:19024088 RGD:6484693 NCBI chr 1:24,351,219...24,390,071
Ensembl chr 1:24,388,280...24,389,170 		JBrowse link
G PIK3AP1 phosphoinositide-3-kinase adaptor protein 1 ISO ClinVar Annotator: match by term: Infantile spasms
ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant		 ClinVar PMID:25262651 PMID:28492532 NCBI chr28:9,977,463...10,095,363
Ensembl chr28:9,978,900...10,095,284 		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 chr24:13,337,285...13,996,218
Ensembl chr24:13,322,296...13,995,539 		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 chr17:19,431,396...19,438,247
Ensembl chr17:19,431,585...19,434,440 		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 8:14,221,516...14,463,481
Ensembl chr 8:14,222,749...14,462,998 		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:14,727,016...14,749,674
Ensembl chr  X:14,727,062...14,749,492 		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 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: Early Infantile Epileptic Encephalopathy, Autosomal Dominant
ClinVar Annotator: match by term: Infantile spasms		 ClinVar PMID:25741868 PMID:28492532 NCBI chr36:10,472,496...10,605,055
Ensembl chr36:10,472,361...10,602,685 		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 chr27:3,174,257...3,348,349
Ensembl chr27:3,176,013...3,296,482 		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
G SPTAN1 spectrin alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant ClinVar PMID:28492532 NCBI chr 9:54,953,751...55,015,475
Ensembl chr 9:54,953,747...55,015,376 		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: Infantile spasms
ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant		 RGD
ClinVar		 PMID:22612257 PMID:23409955 PMID:25741868 PMID:25758715 PMID:25818041 PMID:26865513 RGD:12903963 NCBI chr 9:55,690,939...55,768,008
Ensembl chr 9:55,678,264...55,727,680 		JBrowse link
G TSC1 TSC complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18345974 NCBI chr 9:51,409,307...51,459,546
Ensembl chr 9:51,425,937...51,454,677 		JBrowse link
G TSC2 TSC complex subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18345974 NCBI chr 6:38,865,509...38,898,977
Ensembl chr 6:38,865,507...38,898,960 		JBrowse link
G UPB1 beta-ureidopropionase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18853477 NCBI chr26:28,194,968...28,225,977
Ensembl chr26:28,195,081...28,225,567 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12734
    disease of anatomical entity 12266
      nervous system disease 10005
        central nervous system disease 8431
          brain disease 7787
            epilepsy 1428
              Generalized Epilepsy 274
                Generalized Epilepsy and Paroxysmal Dyskinesia 1
                Myoclonic-Atonic Epilepsy 1
                Nodding Syndrome 0
                Photoparoxysmal Response 2 0
                West syndrome + 34
                childhood absence epilepsy + 29
                epilepsy with generalized tonic-clonic seizures + 19
                generalized epilepsy with febrile seizures plus + 10
                idiopathic generalized epilepsy + 166
paths to the root