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ONTOLOGY REPORT - ANNOTATIONS


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


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Generalized Epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit JBrowse link X 84,752,284 84,825,414 RGD:9068941
G AP3B2 adaptor related protein complex 3 subunit beta 2 JBrowse link 3 54,509,753 54,539,520 RGD:9068941
G ATP7B ATPase copper transporting beta JBrowse link 22 162,474 225,599 RGD:9068941
G AVEN apoptosis and caspase activation inhibitor JBrowse link 30 1,000,781 1,179,463 RGD:9068941
G CACNA1A calcium voltage-gated channel subunit alpha1 A JBrowse link 20 48,747,087 49,036,627 RGD:9068941
G CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 JBrowse link 20 38,859,047 38,995,239 RGD:9068941
G CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 JBrowse link 19 52,987,170 53,116,410 RGD:9068941
G CDKL5 cyclin dependent kinase like 5 JBrowse link X 14,512,226 14,725,348 RGD:9068941
G CHRNA7 cholinergic receptor nicotinic alpha 7 subunit JBrowse link 3 36,852,082 37,164,930 RGD:9068941
G FASN fatty acid synthase JBrowse link 9 233,105 249,573 RGD:9068941
G FOLR1 folate receptor alpha JBrowse link 21 25,944,350 25,951,010 RGD:9068941
G GABBR2 gamma-aminobutyric acid type B receptor subunit 2 JBrowse link 11 55,469,327 55,817,930 RGD:9068941
G GABRB3 gamma-aminobutyric acid type A receptor beta3 subunit JBrowse link 3 33,878,948 34,101,987 RGD:9068941
G GABRD gamma-aminobutyric acid type A receptor delta subunit JBrowse link 5 56,984,786 56,994,790 RGD:9068941
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A JBrowse link 6 32,132,070 32,678,319 RGD:9068941
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B JBrowse link 27 32,470,889 32,883,606 RGD:9068941
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 JBrowse link 4 64,777,069 65,162,603 RGD:9068941
G HNRNPU heterogeneous nuclear ribonucleoprotein U JBrowse link 7 35,832,956 35,842,898 RGD:9068941
G IDUA alpha-L-iduronidase JBrowse link 3 91,517,225 91,534,593 RGD:9068941
G JRK Jrk helix-turn-helix protein JBrowse link 13 36,754,771 36,767,799 RGD:9068941
G KCNB1 potassium voltage-gated channel subfamily B member 1 JBrowse link 24 36,016,800 36,118,873 RGD:9068941
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 24 47,060,527 47,089,077 RGD:9068941
G KCNT1 potassium sodium-activated channel subfamily T member 1 JBrowse link 9 49,532,073 49,581,332 RGD:9068941
G MAPK10 mitogen-activated protein kinase 10 JBrowse link 32 9,584,437 9,889,118 RGD:9068941
G MECP2 methyl-CpG binding protein 2 JBrowse link X 121,866,721 121,876,088 RGD:9068941
G PGK1 phosphoglycerate kinase 1 JBrowse link X 60,374,743 60,396,244 RGD:9068941
G PNKP polynucleotide kinase 3'-phosphatase JBrowse link 1 106,695,649 106,707,229 RGD:9068941
G RS1 retinoschisin 1 JBrowse link X 14,727,016 14,749,674 RGD:9068941
G RYR3 ryanodine receptor 3 JBrowse link 30 1,179,575 1,533,352 RGD:9068941
G SCN1A sodium voltage-gated channel alpha subunit 1 JBrowse link 36 11,105,936 11,245,978 RGD:9068941
G SCN2A sodium voltage-gated channel alpha subunit 2 JBrowse link 36 10,472,496 10,605,055 RGD:9068941
G SCN8A sodium voltage-gated channel alpha subunit 8 JBrowse link 27 3,174,257 3,348,349 RGD:9068941
G SLC26A1 solute carrier family 26 member 1 JBrowse link 3 91,528,045 91,534,104 RGD:9068941
G SLC35A2 solute carrier family 35 member A2 JBrowse link X 42,060,568 42,071,330 RGD:9068941
G STXBP1 syntaxin binding protein 1 JBrowse link 9 55,690,939 55,768,008 RGD:9068941
G SYNGAP1 synaptic Ras GTPase activating protein 1 JBrowse link 12 2,829,274 2,862,888 RGD:9068941
G TRIT1 tRNA isopentenyltransferase 1 JBrowse link 15 3,013,928 3,071,029 RGD:9068941
G UGDH UDP-glucose 6-dehydrogenase JBrowse link 3 72,935,532 72,964,151 RGD:9068941
G USP19 ubiquitin specific peptidase 19 JBrowse link 20 40,062,802 40,074,221 RGD:9068941
G WWOX WW domain containing oxidoreductase JBrowse link 5 72,298,254 73,243,667 RGD:9068941
Benign Familial Infantile Seizures, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PRRT2 proline rich transmembrane protein 2 JBrowse link 6 17,872,670 17,877,502 RGD:7240710
RGD:9068941
Benign Familial Infantile Seizures, 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KCNQ3 potassium voltage-gated channel subfamily Q member 3 JBrowse link 13 28,765,472 29,062,371 RGD:9068941
G SCN8A sodium voltage-gated channel alpha subunit 8 JBrowse link 27 3,174,257 3,348,349 RGD:7240710
RGD:9068941
childhood absence epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CACNA1A calcium voltage-gated channel subunit alpha1 A JBrowse link 20 48,747,087 49,036,627 RGD:9068941
G CACNA1H calcium voltage-gated channel subunit alpha1 H JBrowse link 6 39,510,129 39,533,129 RGD:7240710
RGD:9068941
G CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 JBrowse link 20 38,859,047 38,995,239 RGD:9068941
G CACNG2 calcium voltage-gated channel auxiliary subunit gamma 2 JBrowse link 10 27,750,314 27,862,646 RGD:9068941
G CACNG3 calcium voltage-gated channel auxiliary subunit gamma 3 JBrowse link 6 21,626,977 21,712,331 RGD:9068941
G EFHC1 EF-hand domain containing 1 JBrowse link 12 20,068,287 20,131,621 RGD:9068941
G GABRA1 gamma-aminobutyric acid type A receptor alpha1 subunit JBrowse link 4 49,006,981 49,065,205 RGD:9068941
G GABRA6 gamma-aminobutyric acid type A receptor alpha6 subunit JBrowse link 4 49,208,691 49,225,754 RGD:9068941
G GABRB3 gamma-aminobutyric acid type A receptor beta3 subunit JBrowse link 3 33,878,948 34,101,987 RGD:7240710
RGD:9068941
G GABRG2 gamma-aminobutyric acid type A receptor gamma2 subunit JBrowse link 4 48,794,770 48,901,859 RGD:9068941
G GLUD1 glutamate dehydrogenase 1 JBrowse link 4 34,629,046 34,662,711 RGD:9068941
G GRIK1 glutamate ionotropic receptor kainate type subunit 1 JBrowse link 31 24,477,319 24,839,502 RGD:9068941
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 JBrowse link 4 64,777,069 65,162,603 RGD:9068941
G HTR7 5-hydroxytryptamine receptor 7 JBrowse link 28 5,438,872 5,524,385 RGD:9068941
G JRK Jrk helix-turn-helix protein JBrowse link 13 36,754,771 36,767,799 RGD:9068941
G KCNK9 potassium two pore domain channel subfamily K member 9 JBrowse link 13 34,461,430 34,475,070 RGD:9068941
G LGI4 leucine rich repeat LGI family member 4 JBrowse link 1 117,443,569 117,452,367 RGD:9068941
G MMP9 matrix metallopeptidase 9 JBrowse link 24 33,274,260 33,281,116 RGD:9068941
G NPY neuropeptide Y JBrowse link 14 37,824,579 37,831,289 RGD:9068941
G NPY1R neuropeptide Y receptor Y1 JBrowse link 15 59,580,546 59,587,753 RGD:9068941
G NPY2R neuropeptide Y receptor Y2 JBrowse link 15 52,790,136 52,797,785 RGD:9068941
G NPY5R neuropeptide Y receptor Y5 JBrowse link 15 59,600,212 59,608,576 RGD:9068941
G SCN1B sodium voltage-gated channel beta subunit 1 JBrowse link 1 117,504,428 117,510,666 RGD:9068941
G SLC2A1 solute carrier family 2 member 1 JBrowse link 15 463,307 493,145 RGD:9068941
G YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta JBrowse link 13 2,729,404 2,764,422 RGD:9068941
Childhood Absence Epilepsy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GABRB3 gamma-aminobutyric acid type A receptor beta3 subunit JBrowse link 3 33,878,948 34,101,987 RGD:9068941
G RORB RAR related orphan receptor B JBrowse link 1 83,470,569 83,666,200 RGD:9068941
Childhood Absence Epilepsy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GABRG2 gamma-aminobutyric acid type A receptor gamma2 subunit JBrowse link 4 48,794,770 48,901,859 RGD:9068941
childhood onset epileptic encephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CCDC120 coiled-coil domain containing 120 JBrowse link X 42,206,553 42,217,607 RGD:9068941
G CHD2 chromodomain helicase DNA binding protein 2 JBrowse link 3 47,101,789 47,221,473 RGD:7240710
RGD:9068941
G FMR1 FMRP translational regulator 1 JBrowse link X 116,249,079 116,287,008 RGD:9068941
G PRAF2 PRA1 domain family member 2 JBrowse link X 42,218,038 42,221,075 RGD:9068941
G RBFOX1 RNA binding fox-1 homolog 1 JBrowse link 6 34,218,276 36,255,529 RGD:9068941
G SLC13A5 solute carrier family 13 member 5 JBrowse link 5 30,655,167 30,677,551 RGD:9068941
G SRGAP2 SLIT-ROBO Rho GTPase activating protein 2 JBrowse link 38 2,506,617 2,741,866 RGD:9068941
G STXBP1 syntaxin binding protein 1 JBrowse link 9 55,690,939 55,768,008 RGD:9068941
G TBC1D24 TBC1 domain family member 24 JBrowse link 6 38,531,547 38,557,472 RGD:9068941
G WDR45 WD repeat domain 45 JBrowse link X 42,221,261 42,237,535 RGD:9068941
congenital disorder of glycosylation type IIm term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CCDC120 coiled-coil domain containing 120 JBrowse link X 42,206,553 42,217,607 RGD:9068941
G ERAS ES cell expressed Ras JBrowse link X 42,024,867 42,029,649 RGD:9068941
G GATA1 GATA binding protein 1 JBrowse link X 41,991,321 41,998,319 RGD:9068941
G GLOD5 glyoxalase domain containing 5 JBrowse link X 41,967,674 41,979,241 RGD:9068941
G GRIPAP1 GRIP1 associated protein 1 JBrowse link X 42,121,646 42,145,330 RGD:9068941
G HDAC6 histone deacetylase 6 JBrowse link X 42,004,268 42,024,726 RGD:9068941
G KCND1 potassium voltage-gated channel subfamily D member 1 JBrowse link X 42,111,817 42,119,939 RGD:9068941
G OTUD5 OTU deubiquitinase 5 JBrowse link X 42,079,396 42,109,129 RGD:9068941
G PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor JBrowse link X 42,030,708 42,036,363 RGD:9068941
G PIM2 Pim-2 proto-oncogene, serine/threonine kinase JBrowse link X 42,072,495 42,077,741 RGD:9068941
G PQBP1 polyglutamine binding protein 1 JBrowse link X 42,056,660 42,060,508 RGD:9068941
G PRAF2 PRA1 domain family member 2 JBrowse link X 42,218,038 42,221,075 RGD:9068941
G SLC35A2 solute carrier family 35 member A2 JBrowse link X 42,060,568 42,071,330 RGD:7240710
RGD:9068941
G SUV39H1 suppressor of variegation 3-9 homolog 1 JBrowse link X 41,894,623 41,907,854 RGD:9068941
G TFE3 transcription factor binding to IGHM enhancer 3 JBrowse link X 42,181,639 42,192,709 RGD:9068941
G TIMM17B translocase of inner mitochondrial membrane 17B JBrowse link X 42,052,592 42,056,601 RGD:9068941
G WAS WASP actin nucleation promoting factor JBrowse link X 41,882,240 41,890,053 RGD:9068941
G WDR45 WD repeat domain 45 JBrowse link X 42,221,261 42,237,535 RGD:9068941
Dravet syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GABRG2 gamma-aminobutyric acid type A receptor gamma2 subunit JBrowse link 4 48,794,770 48,901,859 RGD:9068941
G SCN1A sodium voltage-gated channel alpha subunit 1 JBrowse link 36 11,105,936 11,245,978 RGD:7240710
RGD:9068941
G SCN9A sodium voltage-gated channel alpha subunit 9 JBrowse link 36 11,287,358 11,382,897 RGD:7240710
RGD:9068941
G SNX27 sorting nexin 27 JBrowse link 17 60,653,719 60,727,928 RGD:9068941
early infantile epileptic encephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AK1 adenylate kinase 1 JBrowse link 9 55,539,179 55,548,132 RGD:9068941
G ARHGEF15 Rho guanine nucleotide exchange factor 15 JBrowse link 5 33,096,108 33,110,551 RGD:9068941
G ARX aristaless related homeobox JBrowse link X 20,545,346 20,556,206 RGD:9068941
G C9H9orf16 chromosome 9 C9orf16 homolog JBrowse link 9 55,319,943 55,323,429 RGD:9068941
G CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 JBrowse link 20 38,859,047 38,995,239 RGD:9068941
G CDK9 cyclin dependent kinase 9 JBrowse link 9 55,615,271 55,619,493 RGD:9068941
G CDKL5 cyclin dependent kinase like 5 JBrowse link X 14,512,226 14,725,348 RGD:9068941
G CERCAM cerebral endothelial cell adhesion molecule JBrowse link 9 55,109,714 55,120,015 RGD:9068941
G CFAP157 cilia and flagella associated protein 157 JBrowse link 9 55,678,266 55,684,757 RGD:9068941
G CHRNA4 cholinergic receptor nicotinic alpha 4 subunit JBrowse link 24 47,024,948 47,036,507 RGD:9068941
G CIZ1 CDKN1A interacting zinc finger protein 1 JBrowse link 9 55,303,189 55,322,429 RGD:9068941
G COQ4 coenzyme Q4 JBrowse link 9 55,182,919 55,194,048 RGD:9068941
G CSRNP3 cysteine and serine rich nuclear protein 3 JBrowse link 36 10,664,555 10,863,366 RGD:9068941
G CYB561D2 cytochrome b-561 domain containing 2 JBrowse link 20 39,002,941 39,007,085 RGD:9068941
G DNM1 dynamin 1 JBrowse link 9 55,252,802 55,298,244 RGD:9068941
G DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory JBrowse link 9 55,484,244 55,488,359 RGD:9068941
G ENG endoglin JBrowse link 9 55,558,246 55,590,081 RGD:9068941
G FAM102A family with sequence similarity 102 member A JBrowse link 9 55,449,384 55,483,472 RGD:9068941
G FPGS folylpolyglutamate synthase JBrowse link 9 55,590,092 55,612,639 RGD:9068941
G GABRA2 gamma-aminobutyric acid type A receptor alpha2 subunit JBrowse link 13 42,367,988 42,488,069 RGD:9068941
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 JBrowse link 36 10,895,366 10,990,848 RGD:9068941
G GLE1 GLE1 RNA export mediator JBrowse link 9 55,024,673 55,059,297 RGD:9068941
G GNAO1 G protein subunit alpha o1 JBrowse link 2 59,805,675 59,980,782 RGD:9068941
G GOLGA2 golgin A2 JBrowse link 9 55,234,836 55,251,698 RGD:9068941
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 JBrowse link 4 64,777,069 65,162,603 RGD:9068941
G KCNH5 potassium voltage-gated channel subfamily H member 5 JBrowse link 8 37,429,677 37,710,409 RGD:9068941
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 24 47,060,527 47,089,077 RGD:9068941
G LCN2 lipocalin 2 JBrowse link 9 55,328,118 55,342,535 RGD:9068941
G LOC102156300 collagen alpha-3(IV) chain JBrowse link 24 47,124,847 47,132,516 RGD:9068941
G LOC487375 elongation factor 1-alpha 1-like JBrowse link 2 75,787,450 75,797,662 RGD:9068941
G MIR199-3 microRNA mir-199-3 JBrowse link 9 55,262,354 55,262,412 RGD:9068941
G MIR219-2 microRNA mir-219-2 JBrowse link 9 55,139,107 55,139,171 RGD:9068941
G NAIF1 nuclear apoptosis inducing factor 1 JBrowse link 9 55,395,318 55,400,266 RGD:9068941
G ODF2 outer dense fiber of sperm tails 2 JBrowse link 9 55,060,437 55,096,363 RGD:9068941
G PIGP phosphatidylinositol glycan anchor biosynthesis class P JBrowse link 31 32,222,284 32,230,633 RGD:9068941
G PIP5KL1 phosphatidylinositol-4-phosphate 5-kinase like 1 JBrowse link 9 55,490,881 55,499,755 RGD:9068941
G PTGES2 prostaglandin E synthase 2 JBrowse link 9 55,343,424 55,349,349 RGD:9068941
G PTRH1 peptidyl-tRNA hydrolase 1 homolog JBrowse link 9 55,676,605 55,678,442 RGD:9068941
G SCN1A sodium voltage-gated channel alpha subunit 1 JBrowse link 36 11,105,936 11,245,978 RGD:9068941
G SCN2A sodium voltage-gated channel alpha subunit 2 JBrowse link 36 10,472,496 10,605,055 RGD:9068941
G SCN3A sodium voltage-gated channel alpha subunit 3 JBrowse link 36 10,300,091 10,405,361 RGD:9068941
G SCN8A sodium voltage-gated channel alpha subunit 8 JBrowse link 27 3,174,257 3,348,349 RGD:9068941
G SCN9A sodium voltage-gated channel alpha subunit 9 JBrowse link 36 11,287,358 11,382,897 RGD:9068941
G SH2D3C SH2 domain containing 3C JBrowse link 9 55,626,379 55,656,667 RGD:9068941
G SLC25A25 solute carrier family 25 member 25 JBrowse link 9 55,358,348 55,394,624 RGD:9068941
G SLC27A4 solute carrier family 27 member 4 JBrowse link 9 55,164,106 55,177,567 RGD:9068941
G SPTAN1 spectrin alpha, non-erythrocytic 1 JBrowse link 9 54,953,751 55,015,475 RGD:9068941
G ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 JBrowse link 15 16,324,752 16,434,256 RGD:9068941
G ST6GALNAC4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 JBrowse link 9 55,499,100 55,513,562 RGD:9068941
G ST6GALNAC6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 JBrowse link 9 55,520,083 55,533,205 RGD:9068941
G STXBP1 syntaxin binding protein 1 JBrowse link 9 55,690,939 55,768,008 RGD:9068941
G SWI5 SWI5 homologous recombination repair protein JBrowse link 9 55,229,510 55,234,645 RGD:9068941
G TOR2A torsin family 2 member A JBrowse link 9 55,658,006 55,662,181 RGD:9068941
G TRUB2 TruB pseudouridine synthase family member 2 JBrowse link 9 55,194,123 55,203,881 RGD:9068941
G TTC16 tetratricopeptide repeat domain 16 JBrowse link 9 55,662,119 55,676,283 RGD:9068941
G TTC21B tetratricopeptide repeat domain 21B JBrowse link 36 11,009,362 11,086,586 RGD:9068941
G UBA5 ubiquitin like modifier activating enzyme 5 JBrowse link 23 29,645,755 29,658,587 RGD:9068941
G URM1 ubiquitin related modifier 1 JBrowse link 9 55,141,050 55,157,176 RGD:9068941
G WDR34 WD repeat domain 34 JBrowse link 9 54,930,039 54,953,752 RGD:9068941
early infantile epileptic encephalopathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AARS1 alanyl-tRNA synthetase 1 JBrowse link 5 76,288,780 76,343,262 RGD:9068941
G ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit JBrowse link X 84,752,284 84,825,414 RGD:9068941
G ARX aristaless related homeobox JBrowse link X 20,545,346 20,556,206 RGD:7240710
RGD:9068941
G CACNA1A calcium voltage-gated channel subunit alpha1 A JBrowse link 20 48,747,087 49,036,627 RGD:9068941
G CSNK1E casein kinase 1 epsilon JBrowse link 10 26,386,646 26,412,429 RGD:9068941
G GABRB3 gamma-aminobutyric acid type A receptor beta3 subunit JBrowse link 3 33,878,948 34,101,987 RGD:9068941
G GNAO1 G protein subunit alpha o1 JBrowse link 2 59,805,675 59,980,782 RGD:9068941
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 JBrowse link 4 64,777,069 65,162,603 RGD:9068941
G MAF MAF bZIP transcription factor JBrowse link 5 71,965,291 71,982,903 RGD:9068941
G NRXN2 neurexin 2 JBrowse link 18 52,439,836 52,537,577 RGD:9068941
G PLCB1 phospholipase C beta 1 JBrowse link 24 13,337,285 13,996,218 RGD:9068941
G POLA1 DNA polymerase alpha 1, catalytic subunit JBrowse link X 20,227,808 20,537,893 RGD:9068941
G SCN1A sodium voltage-gated channel alpha subunit 1 JBrowse link 36 11,105,936 11,245,978 RGD:9068941
G SLC35A2 solute carrier family 35 member A2 JBrowse link X 42,060,568 42,071,330 RGD:9068941
G ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 JBrowse link 15 16,324,752 16,434,256 RGD:9068941
G SYNJ1 synaptojanin 1 JBrowse link 31 27,308,169 27,399,226 RGD:9068941
G SZT2 SZT2 subunit of KICSTOR complex JBrowse link 15 16,729,068 16,780,549 RGD:9068941
G TBC1D24 TBC1 domain family member 24 JBrowse link 6 38,531,547 38,557,472 RGD:9068941
G WWOX WW domain containing oxidoreductase JBrowse link 5 72,298,254 73,243,667 RGD:9068941
early infantile epileptic encephalopathy 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SCN2A sodium voltage-gated channel alpha subunit 2 JBrowse link 36 10,472,496 10,605,055 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PLCB1 phospholipase C beta 1 JBrowse link 24 13,337,285 13,996,218 RGD:7240710
RGD:9068941
G PNKP polynucleotide kinase 3'-phosphatase JBrowse link 1 106,695,649 106,707,229 RGD:9068941
early infantile epileptic encephalopathy 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SCN8A sodium voltage-gated channel alpha subunit 8 JBrowse link 27 3,174,257 3,348,349 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CAMSAP1 calmodulin regulated spectrin associated protein 1 JBrowse link 9 49,458,701 49,523,056 RGD:9068941
G CARD9 caspase recruitment domain family member 9 JBrowse link 9 49,110,913 49,120,758 RGD:9068941
G DNLZ DNL-type zinc finger JBrowse link 9 49,120,802 49,122,789 RGD:9068941
G ENTR1 endosome associated trafficking regulator 1 JBrowse link 9 49,083,368 49,089,608 RGD:9068941
G GPSM1 G protein signaling modulator 1 JBrowse link 9 49,124,828 49,152,079 RGD:9068941
G INPP5E inositol polyphosphate-5-phosphatase E JBrowse link 9 49,061,014 49,071,474 RGD:9068941
G KCNT1 potassium sodium-activated channel subfamily T member 1 JBrowse link 9 49,532,073 49,581,332 RGD:7240710
RGD:9068941
G LHX3 LIM homeobox 3 JBrowse link 9 49,248,555 49,254,128 RGD:9068941
G NACC2 NACC family member 2 JBrowse link 9 49,323,613 49,393,017 RGD:9068941
G NOTCH1 notch receptor 1 JBrowse link 9 48,975,972 49,018,985 RGD:9068941
G PMPCA peptidase, mitochondrial processing alpha subunit JBrowse link 9 49,073,124 49,083,302 RGD:9068941
G QSOX2 quiescin sulfhydryl oxidase 2 JBrowse link 9 49,213,295 49,245,164 RGD:9068941
G SCN2A sodium voltage-gated channel alpha subunit 2 JBrowse link 36 10,472,496 10,605,055 RGD:9068941
G SEC16A SEC16 homolog A, endoplasmic reticulum export factor JBrowse link 9 49,027,190 49,060,858 RGD:9068941
G SNAPC4 small nuclear RNA activating complex polypeptide 4 JBrowse link 9 49,090,615 49,110,763 RGD:9068941
G TMEM250 transmembrane protein 250 JBrowse link 9 49,308,397 49,311,360 RGD:9068941
G UBAC1 UBA domain containing 1 JBrowse link 9 49,423,924 49,444,589 RGD:9068941
early infantile epileptic encephalopathy 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 JBrowse link 15 16,324,752 16,434,256 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TBC1D24 TBC1 domain family member 24 JBrowse link 6 38,531,547 38,557,472 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GNAO1 G protein subunit alpha o1 JBrowse link 2 59,805,675 59,980,782 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SZT2 SZT2 subunit of KICSTOR complex JBrowse link 15 16,729,068 16,780,549 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 19 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GABRA1 gamma-aminobutyric acid type A receptor alpha1 subunit JBrowse link 4 49,006,981 49,065,205 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BEND2 BEN domain containing 2 JBrowse link X 14,263,152 14,324,882 RGD:9068941
G CDKL5 cyclin dependent kinase like 5 JBrowse link X 14,512,226 14,725,348 RGD:7240710
RGD:9068941
G NHS NHS actin remodeling regulator JBrowse link X 13,487,919 13,834,869 RGD:9068941
G RAI2 retinoic acid induced 2 JBrowse link X 13,871,795 14,021,908 RGD:9068941
G RS1 retinoschisin 1 JBrowse link X 14,727,016 14,749,674 RGD:9068941
G SCML1 Scm polycomb group protein like 1 JBrowse link X 13,836,054 13,850,151 RGD:9068941
G SCML2 Scm polycomb group protein like 2 JBrowse link X 14,334,769 14,436,614 RGD:9068941
early infantile epileptic encephalopathy 21 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NECAP1 NECAP endocytosis associated 1 JBrowse link 27 37,460,545 37,472,512 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DOCK7 dedicator of cytokinesis 7 JBrowse link 5 47,435,209 47,653,312 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 24 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 JBrowse link 4 64,777,069 65,162,603 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 25 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AIPL1 aryl hydrocarbon receptor interacting protein like 1 JBrowse link 5 30,824,571 30,835,025 RGD:9068941
G KIAA0753 KIAA0753 JBrowse link 5 30,708,361 30,749,773 RGD:9068941
G MED31 mediator complex subunit 31 JBrowse link 5 30,693,844 30,700,824 RGD:9068941
G PIMREG PICALM interacting mitotic regulator JBrowse link 5 30,820,867 30,825,169 RGD:9068941
G PITPNM3 PITPNM family member 3 JBrowse link 5 30,772,794 30,820,725 RGD:9068941
G SLC13A5 solute carrier family 13 member 5 JBrowse link 5 30,655,167 30,677,551 RGD:7240710
RGD:9068941
G TXNDC17 thioredoxin domain containing 17 JBrowse link 5 30,701,673 30,703,742 RGD:9068941
early infantile epileptic encephalopathy 26 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KCNB1 potassium voltage-gated channel subfamily B member 1 JBrowse link 24 36,016,800 36,118,873 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 27 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B JBrowse link 27 32,470,889 32,883,606 RGD:7240710
RGD:9068941
G MBD5 methyl-CpG binding domain protein 5 JBrowse link 19 49,815,388 50,250,071 RGD:9068941
early infantile epileptic encephalopathy 28 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G WWOX WW domain containing oxidoreductase JBrowse link 5 72,298,254 73,243,667 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 29 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AARS1 alanyl-tRNA synthetase 1 JBrowse link 5 76,288,780 76,343,262 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 30 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SIK1 salt inducible kinase 1 JBrowse link 31 37,455,130 37,466,829 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 31 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CIZ1 CDKN1A interacting zinc finger protein 1 JBrowse link 9 55,303,189 55,322,429 RGD:9068941
G DNM1 dynamin 1 JBrowse link 9 55,252,802 55,298,244 RGD:7240710
RGD:9068941
G MIR199-3 microRNA mir-199-3 JBrowse link 9 55,262,354 55,262,412 RGD:9068941
early infantile epileptic encephalopathy 32 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KCNA2 potassium voltage-gated channel subfamily A member 2 JBrowse link 6 41,405,453 41,415,727 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 33 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CHRNA4 cholinergic receptor nicotinic alpha 4 subunit JBrowse link 24 47,024,948 47,036,507 RGD:9068941
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 24 47,060,527 47,089,077 RGD:9068941
G LOC102156300 collagen alpha-3(IV) chain JBrowse link 24 47,124,847 47,132,516 RGD:9068941
G LOC487375 elongation factor 1-alpha 1-like JBrowse link 2 75,787,450 75,797,662 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 34 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC12A5 solute carrier family 12 member 5 JBrowse link 24 33,285,773 33,322,885 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 35 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ITPA inosine triphosphatase JBrowse link 24 18,070,980 18,081,815 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 36 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit JBrowse link X 84,752,284 84,825,414 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 37 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FRRS1L ferric chelate reductase 1 like JBrowse link 11 64,281,466 64,298,319 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 38 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ARV1 ARV1 homolog, fatty acid homeostasis modulator JBrowse link 4 8,409,039 8,424,776 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 39 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC25A12 solute carrier family 25 member 12 JBrowse link 36 16,185,011 16,391,080 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 JBrowse link 9 55,855,576 55,894,915 RGD:9068941
G NIBAN2 niban apoptosis regulator 2 JBrowse link 9 55,802,010 55,853,960 RGD:9068941
G STXBP1 syntaxin binding protein 1 JBrowse link 9 55,690,939 55,768,008 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 40 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GUF1 GUF1 homolog, GTPase JBrowse link 13 41,183,708 41,208,203 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 41 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC1A2 solute carrier family 1 member 2 JBrowse link 18 32,565,258 32,717,052 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 42 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CACNA1A calcium voltage-gated channel subunit alpha1 A JBrowse link 20 48,747,087 49,036,627 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 43 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GABRB3 gamma-aminobutyric acid type A receptor beta3 subunit JBrowse link 3 33,878,948 34,101,987 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 44 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G UBA5 ubiquitin like modifier activating enzyme 5 JBrowse link 23 29,645,755 29,658,587 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 45 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GABRB1 gamma-aminobutyric acid type A receptor beta1 subunit JBrowse link 13 43,011,491 43,349,876 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 46 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GRIN2D glutamate ionotropic receptor NMDA type subunit 2D JBrowse link 1 107,821,853 107,853,411 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 47 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGF12 fibroblast growth factor 12 JBrowse link 34 23,818,445 24,357,825 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 48 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AP3B2 adaptor related protein complex 3 subunit beta 2 JBrowse link 3 54,509,753 54,539,520 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 49 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DENND5A DENN domain containing 5A JBrowse link 21 32,465,278 32,573,381 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SPTAN1 spectrin alpha, non-erythrocytic 1 JBrowse link 9 54,953,751 55,015,475 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 50 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase JBrowse link 17 21,198,839 21,221,897 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 51 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MDH2 malate dehydrogenase 2 JBrowse link 6 7,389,266 7,405,311 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 52 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SCN1B sodium voltage-gated channel beta subunit 1 JBrowse link 1 117,504,428 117,510,666 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 53 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SYNJ1 synaptojanin 1 JBrowse link 31 27,308,169 27,399,226 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 54 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HNRNPU heterogeneous nuclear ribonucleoprotein U JBrowse link 7 35,832,956 35,842,898 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 55 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PIGP phosphatidylinositol glycan anchor biosynthesis class P JBrowse link 31 32,222,284 32,230,633 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 56 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma JBrowse link 6 7,504,834 7,548,097 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 57 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KCNT2 potassium sodium-activated channel subfamily T member 2 JBrowse link 38 3,006,639 3,382,234 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 58 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NTRK2 neurotrophic receptor tyrosine kinase 2 JBrowse link 1 74,447,927 74,777,910 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 59 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GABBR2 gamma-aminobutyric acid type B receptor subunit 2 JBrowse link 11 55,469,327 55,817,930 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 60 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CNPY3 canopy FGF signaling regulator 3 JBrowse link 12 11,477,659 11,487,228 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 61 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAM22 ADAM metallopeptidase domain 22 JBrowse link 14 14,032,434 14,256,835 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 62 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SCN3A sodium voltage-gated channel alpha subunit 3 JBrowse link 36 10,300,091 10,405,361 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 63 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CPLX1 complexin 1 JBrowse link 3 91,635,953 91,658,084 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 65 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CYFIP2 cytoplasmic FMR1 interacting protein 2 JBrowse link 4 52,769,638 52,875,080 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 66 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PACS2 phosphofurin acidic cluster sorting protein 2 JBrowse link 8 72,672,861 72,721,655 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 24 47,060,527 47,089,077 RGD:7240710
RGD:9068941
G NEXMIF neurite extension and migration factor JBrowse link X 57,986,884 58,120,453 RGD:9068941
early infantile epileptic encephalopathy 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 JBrowse link X 49,101,034 49,312,797 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PCDH19 protocadherin 19 JBrowse link X 74,179,609 74,319,138 RGD:7240710
RGD:9068941
G SRPX2 sushi repeat containing protein X-linked 2 JBrowse link X 74,513,473 74,536,446 RGD:9068941
G TNMD tenomodulin JBrowse link X 74,459,111 74,475,010 RGD:9068941
G TSPAN6 tetraspanin 6 JBrowse link X 74,499,684 74,510,079 RGD:9068941
Early Infantile Epileptic Encephalopathy, 64 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RHOBTB2 Rho related BTB domain containing 2 JBrowse link 25 34,299,363 34,329,052 RGD:7240710
RGD:9068941
Early Infantile Epileptic Encephalopathy, 67 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CUX2 cut like homeobox 2 JBrowse link 26 8,711,816 8,997,263 RGD:7240710
RGD:9068941
Early Infantile Epileptic Encephalopathy, 68 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TRAK1 trafficking kinesin protein 1 JBrowse link 23 11,221,008 11,383,242 RGD:7240710
RGD:9068941
Early Infantile Epileptic Encephalopathy, 69 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CACNA1E calcium voltage-gated channel subunit alpha1 E JBrowse link 7 14,892,165 15,267,418 RGD:7240710
RGD:9068941
Early Infantile Epileptic Encephalopathy, 70 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PHACTR1 phosphatase and actin regulator 1 JBrowse link 35 12,233,152 12,745,031 RGD:7240710
RGD:9068941
Early Infantile Epileptic Encephalopathy, 71 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GLS glutaminase JBrowse link 37 1,433,640 1,508,347 RGD:7240710
RGD:9068941
Early Infantile Epileptic Encephalopathy, 72 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NEUROD2 neuronal differentiation 2 JBrowse link 9 22,864,708 22,869,044 RGD:7240710
RGD:9068941
Early Infantile Epileptic Encephalopathy, 73 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RNF13 ring finger protein 13 JBrowse link 23 44,480,595 44,683,114 RGD:7240710
RGD:9068941
Early Infantile Epileptic Encephalopathy, 74 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GABRG2 gamma-aminobutyric acid type A receptor gamma2 subunit JBrowse link 4 48,794,770 48,901,859 RGD:7240710
RGD:9068941
Early Infantile Epileptic Encephalopathy, 75 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PARS2 prolyl-tRNA synthetase 2, mitochondrial JBrowse link 5 54,392,668 54,401,983 RGD:7240710
RGD:9068941
Early Infantile Epileptic Encephalopathy, 76 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACTL6B actin like 6B JBrowse link 6 9,045,477 9,059,106 RGD:7240710
RGD:9068941
Early Infantile Epileptic Encephalopathy, 77 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PIGQ phosphatidylinositol glycan anchor biosynthesis class Q JBrowse link 6 39,971,069 39,980,128 RGD:7240710
RGD:9068941
Early Infantile Epileptic Encephalopathy, 78 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GABRA2 gamma-aminobutyric acid type A receptor alpha2 subunit JBrowse link 13 42,367,988 42,488,069 RGD:7240710
RGD:9068941
Early Infantile Epileptic Encephalopathy, 79 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GABRA5 gamma-aminobutyric acid type A receptor alpha5 subunit JBrowse link 3 33,663,414 33,746,120 RGD:7240710
RGD:9068941
epilepsy with generalized tonic-clonic seizures term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BCHE butyrylcholinesterase JBrowse link 34 30,912,632 30,977,624 RGD:9068941
G BDNF brain derived neurotrophic factor JBrowse link 21 48,191,580 48,243,699 RGD:9068941
G CYP2D15 cytochrome P450 2D JBrowse link 10 23,255,259 23,259,380 RGD:9068941
G EARS2 glutamyl-tRNA synthetase 2, mitochondrial JBrowse link 6 22,276,189 22,299,865 RGD:9068941
G FGF2 fibroblast growth factor 2 JBrowse link 19 17,403,288 17,463,143 RGD:9068941
G HBEGF heparin binding EGF like growth factor JBrowse link 2 35,551,248 35,563,310 RGD:9068941
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 JBrowse link 38 22,114,718 22,143,625 RGD:9068941
G MBD5 methyl-CpG binding domain protein 5 JBrowse link 19 49,815,388 50,250,071 RGD:9068941
G NES nestin JBrowse link 7 41,296,395 41,305,641 RGD:9068941
G NGF nerve growth factor JBrowse link 17 52,900,647 52,901,607 RGD:9068941
G NTF3 neurotrophin 3 JBrowse link 27 39,383,017 39,454,613 RGD:9068941
G OXT oxytocin/neurophysin I prepropeptide JBrowse link 24 18,193,381 18,194,232 RGD:9068941
G PCDH19 protocadherin 19 JBrowse link X 74,179,609 74,319,138 RGD:9068941
G POMC proopiomelanocortin JBrowse link 17 19,431,396 19,438,247 RGD:9068941
G SCN1A sodium voltage-gated channel alpha subunit 1 JBrowse link 36 11,105,936 11,245,978 RGD:9068941
G SCN8A sodium voltage-gated channel alpha subunit 8 JBrowse link 27 3,174,257 3,348,349 RGD:9068941
G SPTAN1 spectrin alpha, non-erythrocytic 1 JBrowse link 9 54,953,751 55,015,475 RGD:9068941
Generalized Epilepsy and Paroxysmal Dyskinesia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 JBrowse link 4 26,844,250 27,338,271 RGD:7240710
RGD:9068941
generalized epilepsy with febrile seizures plus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GABRG2 gamma-aminobutyric acid type A receptor gamma2 subunit JBrowse link 4 48,794,770 48,901,859 RGD:9068941
G SCN1A sodium voltage-gated channel alpha subunit 1 JBrowse link 36 11,105,936 11,245,978 RGD:9068941
G SCN1B sodium voltage-gated channel beta subunit 1 JBrowse link 1 117,504,428 117,510,666 RGD:9068941
G SCN9A sodium voltage-gated channel alpha subunit 9 JBrowse link 36 11,287,358 11,382,897 RGD:9068941
generalized epilepsy with febrile seizures plus 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SCN1A sodium voltage-gated channel alpha subunit 1 JBrowse link 36 11,105,936 11,245,978 RGD:9068941
G SCN1B sodium voltage-gated channel beta subunit 1 JBrowse link 1 117,504,428 117,510,666 RGD:7240710
RGD:9068941
generalized epilepsy with febrile seizures plus 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 JBrowse link 4 64,777,069 65,162,603 RGD:7240710
RGD:9068941
generalized epilepsy with febrile seizures plus 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SCN1A sodium voltage-gated channel alpha subunit 1 JBrowse link 36 11,105,936 11,245,978 RGD:7240710
RGD:9068941
generalized epilepsy with febrile seizures plus 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SCN9A sodium voltage-gated channel alpha subunit 9 JBrowse link 36 11,287,358 11,382,897 RGD:7240710
RGD:9068941
generalized epilepsy with febrile seizures plus 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G STX1B syntaxin 1B JBrowse link 6 17,209,972 17,219,903 RGD:7240710
RGD:9068941
G STX4 syntaxin 4 JBrowse link 6 17,184,044 17,189,481 RGD:9068941
G ZNF668 zinc finger protein 668 JBrowse link 6 17,157,767 17,166,397 RGD:9068941
Generalized Epilepsy with Febrile Seizures Plus, Type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GABRG2 gamma-aminobutyric acid type A receptor gamma2 subunit JBrowse link 4 48,794,770 48,901,859 RGD:9068941
Generalized Epilepsy with Febrile Seizures Plus, Type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GABRD gamma-aminobutyric acid type A receptor delta subunit JBrowse link 5 56,984,786 56,994,790 RGD:9068941
idiopathic generalized epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ANKRD65 ankyrin repeat domain 65 JBrowse link 5 56,564,686 56,568,194 RGD:9068941
G ATAD3A ATPase family AAA domain containing 3A JBrowse link 5 56,587,385 56,613,475 RGD:9068941
G AURKAIP1 aurora kinase A interacting protein 1 JBrowse link 5 56,539,987 56,541,578 RGD:9068941
G CACNA1H calcium voltage-gated channel subunit alpha1 H JBrowse link 6 39,510,129 39,533,129 RGD:9068941
G CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 JBrowse link 20 38,859,047 38,995,239 RGD:9068941
G CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 JBrowse link 19 52,987,170 53,116,410 RGD:9068941
G CALML6 calmodulin like 6 JBrowse link 5 56,901,401 56,904,422 RGD:9068941
G CASR calcium sensing receptor JBrowse link 33 25,340,822 25,432,814 RGD:9068941
G CCNL2 cyclin L2 JBrowse link 5 56,542,358 56,550,701 RGD:9068941
G CFAP74 cilia and flagella associated protein 74 JBrowse link 5 56,909,092 56,970,980 RGD:9068941
G CLCN2 chloride voltage-gated channel 2 JBrowse link 34 17,224,136 17,238,755 RGD:9068941
G CPTP ceramide-1-phosphate transfer protein JBrowse link 5 56,498,163 56,501,918 RGD:9068941
G DNM1 dynamin 1 JBrowse link 9 55,252,802 55,298,244 RGD:9068941
G DVL1 dishevelled segment polarity protein 1 JBrowse link 5 56,507,803 56,519,382 RGD:9068941
G FNDC10 fibronectin type III domain containing 10 JBrowse link 5 56,660,721 56,662,696 RGD:9068941
G GABRA1 gamma-aminobutyric acid type A receptor alpha1 subunit JBrowse link 4 49,006,981 49,065,205 RGD:9068941
G GABRD gamma-aminobutyric acid type A receptor delta subunit JBrowse link 5 56,984,786 56,994,790 RGD:9068941
G GNB1 G protein subunit beta 1 JBrowse link 5 56,777,854 56,879,619 RGD:9068941
G ICK intestinal cell kinase JBrowse link 12 20,453,322 20,511,463 RGD:9068941
G INTS11 integrator complex subunit 11 JBrowse link 5 56,485,690 56,498,074 RGD:9068941
G LOC489590 solute carrier family 35 member E2 JBrowse link 5 56,715,798 56,739,464 RGD:9068941
G LOC489591 cyclin-dependent kinase 11B JBrowse link 5 56,698,267 56,714,075 RGD:9068941
G MIB2 mindbomb E3 ubiquitin protein ligase 2 JBrowse link 5 56,680,526 56,693,551 RGD:9068941
G MMP23 matrix metallopeptidase 23 JBrowse link 5 56,693,751 56,697,284 RGD:9068941
G MRPL20 mitochondrial ribosomal protein L20 JBrowse link 5 56,553,326 56,558,182 RGD:9068941
G MXRA8 matrix remodeling associated 8 JBrowse link 5 56,522,283 56,526,750 RGD:9068941
G NADK NAD kinase JBrowse link 5 56,743,920 56,774,578 RGD:9068941
G RBFOX1 RNA binding fox-1 homolog 1 JBrowse link 6 34,218,276 36,255,529 RGD:9068941
G RBFOX3 RNA binding fox-1 homolog 3 JBrowse link 9 2,362,354 2,374,492 RGD:9068941
G SLC12A5 solute carrier family 12 member 5 JBrowse link 24 33,285,773 33,322,885 RGD:9068941
G SSU72 SSU72 homolog, RNA polymerase II CTD phosphatase JBrowse link 5 56,620,803 56,650,131 RGD:9068941
G TAS1R3 taste 1 receptor member 3 JBrowse link 5 56,503,720 56,506,883 RGD:9068941
G TMEM240 transmembrane protein 240 JBrowse link 5 56,613,561 56,619,693 RGD:9068941
G TMEM52 transmembrane protein 52 JBrowse link 5 56,900,297 56,906,565 RGD:9068941
G TMEM88B transmembrane protein 88B JBrowse link 5 56,569,512 56,573,353 RGD:9068941
G VWA1 von Willebrand factor A domain containing 1 JBrowse link 5 56,578,256 56,583,552 RGD:9068941
idiopathic generalized epilepsy 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GABRD gamma-aminobutyric acid type A receptor delta subunit JBrowse link 5 56,984,786 56,994,790 RGD:7240710
RGD:9068941
idiopathic generalized epilepsy 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CLCN2 chloride voltage-gated channel 2 JBrowse link 34 17,224,136 17,238,755 RGD:7240710
RGD:9068941
idiopathic generalized epilepsy 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC2A1 solute carrier family 2 member 1 JBrowse link 15 463,307 493,145 RGD:7240710
RGD:9068941
idiopathic generalized epilepsy 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GABRA1 gamma-aminobutyric acid type A receptor alpha1 subunit JBrowse link 4 49,006,981 49,065,205 RGD:7240710
RGD:9068941
idiopathic generalized epilepsy 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC12A5 solute carrier family 12 member 5 JBrowse link 24 33,285,773 33,322,885 RGD:7240710
RGD:9068941
idiopathic generalized epilepsy 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RORB RAR related orphan receptor B JBrowse link 1 83,470,569 83,666,200 RGD:7240710
RGD:9068941
idiopathic generalized epilepsy 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CHRNA7 cholinergic receptor nicotinic alpha 7 subunit JBrowse link 3 36,852,082 37,164,930 RGD:9068941
idiopathic generalized epilepsy 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CASR calcium sensing receptor JBrowse link 33 25,340,822 25,432,814 RGD:7240710
RGD:9068941
idiopathic generalized epilepsy 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 JBrowse link 19 52,987,170 53,116,410 RGD:7240710
RGD:9068941
Infantile or Early Childhood Epileptic Encephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DNM1 dynamin 1 JBrowse link 9 55,252,802 55,298,244 RGD:9068941
G PPP3CA protein phosphatase 3 catalytic subunit alpha JBrowse link 32 22,688,141 22,996,693 RGD:9068941
infantile or early childhood epileptic encephalopathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PPP3CA protein phosphatase 3 catalytic subunit alpha JBrowse link 32 22,688,141 22,996,693 RGD:7240710
RGD:9068941
infantile or early childhood epileptic encephalopathy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GABRB2 gamma-aminobutyric acid type A receptor beta2 subunit JBrowse link 4 49,342,527 49,579,697 RGD:7240710
RGD:9068941
Infantile or Early Childhood Epileptic Encephalopathy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATP6V1A ATPase H+ transporting V1 subunit A JBrowse link 33 18,038,143 18,103,649 RGD:7240710
RGD:9068941
juvenile absence epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EFHC1 EF-hand domain containing 1 JBrowse link 12 20,068,287 20,131,621 RGD:9068941
juvenile absence epilepsy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EFHC1 EF-hand domain containing 1 JBrowse link 12 20,068,287 20,131,621 RGD:7240710
RGD:9068941
microcephaly, seizures, and developmental delay term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PNKP polynucleotide kinase 3'-phosphatase JBrowse link 1 106,695,649 106,707,229 RGD:7240710
RGD:9068941
multiple congenital anomalies-hypotonia-seizures syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PIGA phosphatidylinositol glycan anchor biosynthesis class A JBrowse link X 11,570,327 11,583,401 RGD:7240710
RGD:9068941
Myoclonic-Atonic Epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC6A1 solute carrier family 6 member 1 JBrowse link 20 7,341,071 7,383,197 RGD:7240710
RGD:9068941
Norrie disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FZD4 frizzled class receptor 4 JBrowse link 21 12,699,886 12,709,132 RGD:9068941
G NDP norrin cystine knot growth factor NDP JBrowse link X 37,949,560 37,975,573 RGD:7240710
RGD:9068941
G TSPAN12 tetraspanin 12 JBrowse link 14 58,941,658 59,005,507 RGD:9068941
PEHO syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CCDC88A coiled-coil domain containing 88A JBrowse link 10 56,167,907 56,300,974 RGD:9068941
G IGF1 insulin like growth factor 1 JBrowse link 15 41,203,320 41,275,964 RGD:9068941
G KIF1A kinesin family member 1A JBrowse link 25 50,855,703 50,945,014 RGD:9068941
G ZNHIT3 zinc finger HIT-type containing 3 JBrowse link 9 36,378,226 36,383,906 RGD:7240710
RGD:9068941
West syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABAT 4-aminobutyrate aminotransferase JBrowse link 6 33,385,779 33,471,348 RGD:9068941
G ARX aristaless related homeobox JBrowse link X 20,545,346 20,556,206 RGD:9068941
G CDKL5 cyclin dependent kinase like 5 JBrowse link X 14,512,226 14,725,348 RGD:9068941
G CFL1 cofilin 1 JBrowse link 18 51,404,649 51,408,240 RGD:9068941
G CRH corticotropin releasing hormone JBrowse link 29 15,831,944 15,840,560 RGD:9068941
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 8 69,997,021 70,064,886 RGD:9068941
G GAD1 glutamate decarboxylase 1 JBrowse link 36 15,351,289 15,391,701 RGD:9068941
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 JBrowse link 11 8,717,182 8,810,716 RGD:9068941
G MC2R melanocortin 2 receptor JBrowse link 1 24,351,219 24,390,071 RGD:9068941
G MLLT1 MLLT1 super elongation complex subunit JBrowse link 20 53,844,972 53,913,753 RGD:9068941
G PIK3AP1 phosphoinositide-3-kinase adaptor protein 1 JBrowse link 28 9,977,463 10,095,363 RGD:9068941
G PLCB1 phospholipase C beta 1 JBrowse link 24 13,337,285 13,996,218 RGD:9068941
G POMC proopiomelanocortin JBrowse link 17 19,431,396 19,438,247 RGD:9068941
G PTRH1 peptidyl-tRNA hydrolase 1 homolog JBrowse link 9 55,676,605 55,678,442 RGD:9068941
G RS1 retinoschisin 1 JBrowse link X 14,727,016 14,749,674 RGD:9068941
G SCN1A sodium voltage-gated channel alpha subunit 1 JBrowse link 36 11,105,936 11,245,978 RGD:9068941
G SCN2A sodium voltage-gated channel alpha subunit 2 JBrowse link 36 10,472,496 10,605,055 RGD:9068941
G SCN8A sodium voltage-gated channel alpha subunit 8 JBrowse link 27 3,174,257 3,348,349 RGD:9068941
G SPTAN1 spectrin alpha, non-erythrocytic 1 JBrowse link 9 54,953,751 55,015,475 RGD:9068941
G STXBP1 syntaxin binding protein 1 JBrowse link 9 55,690,939 55,768,008 RGD:9068941
G TRPM4 transient receptor potential cation channel subfamily M member 4 JBrowse link 1 107,261,760 107,304,157 RGD:9068941
G TSC1 TSC complex subunit 1 JBrowse link 9 51,409,307 51,459,546 RGD:9068941
G TSC2 TSC complex subunit 2 JBrowse link 6 38,865,509 38,898,977 RGD:9068941
G UPB1 beta-ureidopropionase 1 JBrowse link 26 28,194,968 28,225,977 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11963
    disease of anatomical entity 11612
      nervous system disease 9310
        central nervous system disease 7487
          brain disease 6988
            epilepsy 1017
              Generalized Epilepsy 287
                Generalized Epilepsy and Paroxysmal Dyskinesia 1
                Myoclonic-Atonic Epilepsy 1
                Nodding Syndrome 0
                Photoparoxysmal Response 2 0
                West syndrome + 33
                childhood absence epilepsy + 26
                epilepsy with generalized tonic-clonic seizures + 17
                generalized epilepsy with febrile seizures plus + 9
                idiopathic generalized epilepsy + 220
paths to the root

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