Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:idiopathic generalized epilepsy
go back to main search page
Accession:DOID:1827 term browser browse the term
Definition:An epilepsy syndrome that is characterised by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain. (DO)
Synonyms:exact_synonym: EIG;   EIG10 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 5,;   EIG11;   EIG14;   EIG15;   EIG2;   EIG3;   EIG4;   EIG5;   EIG8;   EIG9;   EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 10;   Generalised epilepsy
 narrow_synonym: EIG1;   EJA2;   EJM6;   EJM7;   EJM8;   GEFS5
 related_synonym: EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 2;   EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6;   EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 7;   EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8;   GEFS+, TYPE 5, SUSCEPTIBILITY TO;   GEFS+5, SUSCEPTIBILITY TO;   GEFSP5, SUSCEPTIBILITY TO;   IGE EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 1;   idiopathic generalized epilepsy, susceptibility to, 1;   idiopathic generalized epilepsy, susceptibility to, 10;   idiopathic generalized epilepsy, susceptibility to, 11;   idiopathic generalized epilepsy, susceptibility to, 12;   idiopathic generalized epilepsy, susceptibility to, 14;   idiopathic generalized epilepsy, susceptibility to, 15;   idiopathic generalized epilepsy, susceptibility to, 2;   idiopathic generalized epilepsy, susceptibility to, 3;   idiopathic generalized epilepsy, susceptibility to, 4;   idiopathic generalized epilepsy, susceptibility to, 5;   idiopathic generalized epilepsy, susceptibility to, 8;   idiopathic generalized epilepsy, susceptibility to, 9;   idiopathic generalized epilepsy, susceptibility to, locus on chromosome 10;   idiopathic generalized epilepsy, susceptibility to, locus on chromosome 14;   idiopathic generalized epilepsy, susceptibility to, locus on chromosome 8;   idiopathic generalized epilepsy, susceptibility to, locus on chromosome 9
 primary_id: MESH:C562694
 alt_id: OMIM:600669;   OMIM:606972;   OMIM:607628;   OMIM:607682;   OMIM:608762;   OMIM:609750;   OMIM:611934;   OMIM:612899;   OMIM:613060;   OMIM:616685;   OMIM:618357;   RDO:0012295
 xref: NCI:C3021
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
idiopathic generalized epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankrd65 ankyrin repeat domain 65 JBrowse link 5 173,237,642 173,239,899 RGD:8554872
G Atad3a ATPase family, AAA domain containing 3A JBrowse link 5 173,189,590 173,209,809 RGD:8554872
G Aurkaip1 aurora kinase A interacting protein 1 JBrowse link 5 173,274,433 173,276,170 RGD:8554872
G Cacna1h calcium voltage-gated channel subunit alpha1 H JBrowse link 10 14,730,932 14,789,201 RGD:8554872
G Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 JBrowse link 8 116,154,661 116,285,643 RGD:13592920
G Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 JBrowse link 3 37,950,846 38,211,478 RGD:8554872
RGD:11554173
RGD:7240710
G Casr calcium-sensing receptor JBrowse link 11 67,188,204 67,262,261 RGD:8554872
RGD:11554173
RGD:7240710
G Ccnl2 cyclin L2 JBrowse link 5 173,256,301 173,268,279 RGD:8554872
G Cdk11b cyclin-dependent kinase 11B JBrowse link 5 173,051,900 173,078,049 RGD:8554872
G Cfap74 cilia and flagella associated protein 74 JBrowse link 5 172,817,221 172,884,996 RGD:8554872
G Clcn2 chloride voltage-gated channel 2 JBrowse link 11 82,862,664 82,876,165 RGD:8554872
RGD:11554173
RGD:7240710
G Cptp ceramide-1-phosphate transfer protein JBrowse link 5 173,314,219 173,318,384 RGD:8554872
G Dnm1 dynamin 1 JBrowse link 3 11,338,081 11,382,043 RGD:13592920
G Dvl1 dishevelled segment polarity protein 1 JBrowse link 5 173,295,948 173,308,014 RGD:8554872
G Fndc10 fibronectin type III domain containing 10 JBrowse link 5 173,139,345 173,141,564 RGD:8554872
G Gabra1 gamma-aminobutyric acid type A receptor alpha1 subunit JBrowse link 10 27,310,718 27,371,802 RGD:8554872
RGD:13592920
G Gabrd gamma-aminobutyric acid type A receptor delta subunit JBrowse link 5 172,797,478 172,809,374 RGD:8554872
RGD:11554173
RGD:7240710
G Gnb1 G protein subunit beta 1 JBrowse link 5 172,914,025 172,981,403 RGD:8554872
G Ick intestinal cell kinase JBrowse link 8 85,413,998 85,473,374 RGD:8554872
G Ints11 integrator complex subunit 11 JBrowse link 5 173,318,435 173,336,930 RGD:8554872
G Mib2 mindbomb E3 ubiquitin protein ligase 2 JBrowse link 5 173,082,943 173,099,353 RGD:8554872
G Mmp23 matrix metallopeptidase 23 JBrowse link 5 173,078,811 173,082,834 RGD:8554872
G Mrpl20 mitochondrial ribosomal protein L20 JBrowse link 5 173,248,245 173,252,775 RGD:8554872
G Mxra8 matrix remodeling associated 8 JBrowse link 5 173,288,200 173,292,926 RGD:8554872
G Nadk NAD kinase JBrowse link 5 172,984,930 173,015,505 RGD:8554872
G Rbfox1 RNA binding fox-1 homolog 1 JBrowse link 10 8,312,961 10,437,778 RGD:8554872
G Rbfox3 RNA binding fox-1 homolog 3 JBrowse link 10 107,517,916 107,850,764 RGD:8554872
G Rorb RAR-related orphan receptor B JBrowse link 1 234,252,757 234,442,597 RGD:8554872
RGD:7240710
G Slc12a5 solute carrier family 12 member 5 JBrowse link 3 161,433,303 161,465,078 RGD:8554872
RGD:11554173
RGD:7240710
G Slc2a1 solute carrier family 2 member 1 JBrowse link 5 138,154,677 138,182,897 RGD:8554872
RGD:13592920
G Slc35e2b solute carrier family 35, member E2B JBrowse link 5 173,024,335 173,050,228 RGD:8554872
G Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase JBrowse link 5 173,152,964 173,182,720 RGD:8554872
G Tas1r3 taste 1 receptor member 3 JBrowse link 5 173,307,325 173,312,950 RGD:8554872
G Tmem240 transmembrane protein 240 JBrowse link 5 173,182,815 173,189,683 RGD:8554872
G Tmem52 transmembrane protein 52 JBrowse link 5 172,887,587 172,889,349 RGD:8554872
G Tmem88b transmembrane protein 88B JBrowse link 5 173,230,364 173,233,188 RGD:8554872
G Vwa1 von Willebrand factor A domain containing 1 JBrowse link 5 173,216,737 173,221,923 RGD:8554872
childhood onset epileptic encephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc120 coiled-coil domain containing 120 JBrowse link X 15,610,230 15,616,727 RGD:8554872
G Chd2 chromodomain helicase DNA binding protein 2 JBrowse link 1 134,757,934 134,873,053 RGD:7240710
RGD:8554872
G Fmr1 fragile X mental retardation 1 JBrowse link X 154,684,924 154,722,369 RGD:11667971
G Praf2 PRA1 domain family, member 2 JBrowse link X 15,618,324 15,620,992 RGD:8554872
G Stxbp1 syntaxin binding protein 1 JBrowse link 3 11,823,779 11,885,479 RGD:8554872
G Tbc1d24 TBC1 domain family, member 24 JBrowse link 10 13,551,100 13,576,739 RGD:11537471
G Wdr45 WD repeat domain 45 JBrowse link X 15,621,249 15,627,159 RGD:8554872
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 15,610,230 15,616,727 RGD:8554872
G Eras ES cell expressed Ras JBrowse link X 15,318,215 15,322,601 RGD:8554872
G Gata1 GATA binding protein 1 JBrowse link X 15,273,937 15,281,759 RGD:8554872
G Glod5 glyoxalase domain containing 5 JBrowse link X 15,225,645 15,240,458 RGD:8554872
G Gripap1 GRIP1 associated protein 1 JBrowse link X 15,523,929 15,553,702 RGD:8554872
G Hdac6 histone deacetylase 6 JBrowse link X 15,295,372 15,316,673 RGD:8554872
G Kcnd1 potassium voltage-gated channel subfamily D member 1 JBrowse link X 15,506,724 15,520,712 RGD:8554872
G Otud5 OTU deubiquitinase 5 JBrowse link X 15,471,212 15,504,372 RGD:8554872
G Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor JBrowse link X 15,324,263 15,327,705 RGD:8554872
G Pim2 Pim-2 proto-oncogene, serine/threonine kinase JBrowse link X 15,462,621 15,467,890 RGD:8554872
G Pqbp1 polyglutamine binding protein 1 JBrowse link X 15,448,570 15,453,130 RGD:8554872
G Praf2 PRA1 domain family, member 2 JBrowse link X 15,618,324 15,620,992 RGD:8554872
G Slc35a2 solute carrier family 35 member A2 JBrowse link X 15,453,184 15,461,990 RGD:7240710
RGD:8554872
G Suv39h1 suppressor of variegation 3-9 homolog 1 JBrowse link X 146,532,002 146,533,538 RGD:8554872
G Tfe3 transcription factor binding to IGHM enhancer 3 JBrowse link X 15,574,579 15,587,826 RGD:8554872
G Timm17b translocase of inner mitochondrial membrane 17b JBrowse link X 15,441,369 15,448,452 RGD:8554872
G Was WASP actin nucleation promoting factor JBrowse link X 15,155,246 15,164,099 RGD:8554872
G Wdr45 WD repeat domain 45 JBrowse link X 15,621,249 15,627,159 RGD:8554872
Dravet syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gabrg2 gamma-aminobutyric acid type A receptor gamma 2 subunit JBrowse link 10 27,090,913 27,179,786 RGD:8554872
G Scn1a sodium voltage-gated channel alpha subunit 1 JBrowse link 3 52,388,811 52,533,365 RGD:8554872
RGD:7240710
G Scn9a sodium voltage-gated channel alpha subunit 9 JBrowse link 3 52,583,953 52,664,209 RGD:8554872
RGD:7240710
G Snx27 sorting nexin family member 27 JBrowse link 2 195,738,613 195,821,608 RGD:8554872
early infantile epileptic encephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arhgef15 Rho guanine nucleotide exchange factor 15 JBrowse link 10 55,532,097 55,545,675 RGD:8554872
G Arx aristaless related homeobox JBrowse link X 62,363,757 62,376,139 RGD:13592920
G Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 JBrowse link 8 116,154,661 116,285,643 RGD:8554872
G Cdkl5 cyclin-dependent kinase-like 5 JBrowse link X 35,536,396 35,773,204 RGD:13592920
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit JBrowse link 3 176,533,182 176,547,965 RGD:8554872
G Csrnp3 cysteine and serine rich nuclear protein 3 JBrowse link 3 51,883,559 52,120,290 RGD:8554872
G Cyb561d2 cytochrome b561 family, member D2 JBrowse link 8 116,295,328 116,297,879 RGD:8554872
G Eef1a2 eukaryotic translation elongation factor 1 alpha 2 JBrowse link 3 176,657,104 176,666,282 RGD:8554872
G Gabra2 gamma-aminobutyric acid type A receptor alpha2 subunit JBrowse link 14 39,662,411 39,801,082 RGD:8554872
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 JBrowse link 3 52,174,469 52,212,395 RGD:8554872
G Gnao1 G protein subunit alpha o1 JBrowse link 19 11,513,201 11,669,578 RGD:8554872
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 JBrowse link 2 50,099,576 50,499,799 RGD:8554872
G Kcnh5 potassium voltage-gated channel subfamily H member 5 JBrowse link 6 97,872,831 98,157,087 RGD:8554872
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 3 176,585,897 176,645,029 RGD:8554872
G Pigp phosphatidylinositol glycan anchor biosynthesis, class P JBrowse link 11 34,592,128 34,598,253 RGD:8554872
G Ppdpf pancreatic progenitor cell differentiation and proliferation factor JBrowse link 3 176,690,507 176,692,272 RGD:8554872
G Ptk6 protein tyrosine kinase 6 JBrowse link 3 176,698,305 176,706,896 RGD:8554872
G Scn1a sodium voltage-gated channel alpha subunit 1 JBrowse link 3 52,388,811 52,533,365 RGD:8554872
G Scn2a sodium voltage-gated channel alpha subunit 2 JBrowse link 3 51,687,910 51,822,008 RGD:8554872
G Scn3a sodium voltage-gated channel alpha subunit 3 JBrowse link 3 51,530,897 51,643,140 RGD:8554872
G Scn8a sodium voltage-gated channel alpha subunit 8 JBrowse link 7 142,575,629 142,683,659 RGD:13592920
RGD:8554872
G Scn9a sodium voltage-gated channel alpha subunit 9 JBrowse link 3 52,583,953 52,664,209 RGD:8554872
G Slc25a22 solute carrier family 25 member 22 JBrowse link 1 214,410,388 214,418,236 RGD:8554872
G Sptan1 spectrin, alpha, non-erythrocytic 1 JBrowse link 3 8,534,437 8,599,259 RGD:8554872
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 JBrowse link 5 136,765,309 136,965,642 RGD:8554872
G Stxbp1 syntaxin binding protein 1 JBrowse link 3 11,823,779 11,885,479 RGD:8554872
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:8554872
G Wdr34 WD repeat domain 34 JBrowse link 3 8,599,251 8,615,329 RGD:8554872
early infantile epileptic encephalopathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aars alanyl-tRNA synthetase JBrowse link 19 43,193,264 43,215,281 RGD:8554872
G Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit JBrowse link X 115,561,329 115,589,792 RGD:8554872
G Arx aristaless related homeobox JBrowse link X 62,363,757 62,376,139 RGD:7240710
RGD:8554872
RGD:11565846
RGD:11565838
G Cacna1a calcium voltage-gated channel subunit alpha1 A JBrowse link 19 25,453,236 25,749,550 RGD:8554872
G Csnk1e casein kinase 1, epsilon JBrowse link 7 120,651,976 120,675,559 RGD:8554872
G Gabrb3 gamma-aminobutyric acid type A receptor beta 3 subunit JBrowse link 1 113,034,251 113,265,364 RGD:8554872
G Gnao1 G protein subunit alpha o1 JBrowse link 19 11,513,201 11,669,578 RGD:8554872
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 JBrowse link 2 50,099,576 50,499,799 RGD:11554173
G Maf MAF bZIP transcription factor JBrowse link 19 48,179,826 48,200,995 RGD:8554872
G Nrxn2 neurexin 2 JBrowse link 1 221,792,191 221,908,047 RGD:8554872
G Plcb1 phospholipase C beta 1 JBrowse link 3 127,721,244 128,419,565 RGD:8554872
G Slc35a2 solute carrier family 35 member A2 JBrowse link X 15,453,184 15,461,990 RGD:8554872
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 JBrowse link 5 136,765,309 136,965,642 RGD:8554872
G Synj1 synaptojanin 1 JBrowse link 11 31,105,784 31,181,573 RGD:8554872
G Szt2 SZT2 subunit of KICSTOR complex JBrowse link 5 137,192,120 137,238,384 RGD:8554872
G Tbc1d24 TBC1 domain family, member 24 JBrowse link 10 13,551,100 13,576,739 RGD:8554872
G Wwox WW domain-containing oxidoreductase JBrowse link 19 46,761,353 47,695,247 RGD:8554872
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 3 51,687,910 51,822,008 RGD:7240710
RGD:8554872
early infantile epileptic encephalopathy 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plcb1 phospholipase C beta 1 JBrowse link 3 127,721,244 128,419,565 RGD:7240710
RGD:8554872
G Pnkp polynucleotide kinase 3'-phosphatase JBrowse link 1 100,853,475 100,859,202 RGD:8554872
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 7 142,575,629 142,683,659 RGD:7240710
RGD:8554872
early infantile epileptic encephalopathy 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnt1 potassium sodium-activated channel subfamily T member 1 JBrowse link 3 3,310,641 3,366,558 RGD:7240710
RGD:8554872
G Scn2a sodium voltage-gated channel alpha subunit 2 JBrowse link 3 51,687,910 51,822,008 RGD:8554872
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 5 136,765,309 136,965,642 RGD:7240710
RGD:8554872
early infantile epileptic encephalopathy 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbc1d24 TBC1 domain family, member 24 JBrowse link 10 13,551,100 13,576,739 RGD:7240710
RGD:8554872
early infantile epileptic encephalopathy 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnao1 G protein subunit alpha o1 JBrowse link 19 11,513,201 11,669,578 RGD:7240710
RGD:8554872
early infantile epileptic encephalopathy 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Szt2 SZT2 subunit of KICSTOR complex JBrowse link 5 137,192,120 137,238,384 RGD:7240710
RGD:8554872
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 10 27,310,718 27,371,802 RGD:8554872
RGD:7240710
early infantile epileptic encephalopathy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bend2 BEN domain containing 2 JBrowse link X 35,151,376 35,200,501 RGD:8554872
G Cdkl5 cyclin-dependent kinase-like 5 JBrowse link X 35,536,396 35,773,204 RGD:8554872
RGD:7240710
RGD:12791015
G Nhs NHS actin remodeling regulator JBrowse link X 34,312,102 34,675,912 RGD:8554872
G Rai2 retinoic acid induced 2 JBrowse link X 34,731,891 34,794,589 RGD:8554872
G Rs1 retinoschisin 1 JBrowse link X 35,749,957 35,777,243 RGD:8554872
G Scml1 Scm polycomb group protein like 1 JBrowse link X 34,676,728 34,694,251 RGD:8554872
G Scml2 Scm polycomb group protein like 2 JBrowse link X 35,305,235 35,431,271 RGD:8554872
early infantile epileptic encephalopathy 21 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Necap1 NECAP endocytosis associated 1 JBrowse link 4 155,709,712 155,724,801 RGD:7240710
RGD:8554872
early infantile epileptic encephalopathy 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dock7 dedicator of cytokinesis 7 JBrowse link 5 117,595,194 117,780,844 RGD:7240710
RGD:8554872
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 2 50,099,576 50,499,799 RGD:8554872
RGD:7240710
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 10 58,599,690 58,631,194 RGD:8554872
G LOC100912483 uncharacterized LOC100912483 JBrowse link 10 58,784,444 58,787,713 RGD:8554872
G Med31 mediator complex subunit 31 JBrowse link 10 58,780,987 58,784,369 RGD:8554872
G Pimreg PICALM interacting mitotic regulator JBrowse link 10 58,613,588 58,618,524 RGD:8554872
G Pitpnm3 PITPNM family member 3 JBrowse link 10 58,618,679 58,722,679 RGD:8554872
G RGD1304728 similar to 4933427D14Rik protein JBrowse link 10 58,726,721 58,776,718 RGD:8554872
G Slc13a5 solute carrier family 13 member 5 JBrowse link 10 58,806,581 58,835,549 RGD:8554872
RGD:7240710
G Txndc17 thioredoxin domain containing 17 JBrowse link 10 58,776,792 58,779,764 RGD:8554872
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 3 163,850,785 163,935,610 RGD:8554872
RGD:7240710
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 4 169,541,620 170,000,216 RGD:8554872
RGD:7240710
G Mbd5 methyl-CpG binding domain protein 5 JBrowse link 3 33,364,812 33,504,144 RGD:8554872
early infantile epileptic encephalopathy 28 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wwox WW domain-containing oxidoreductase JBrowse link 19 46,761,353 47,695,247 RGD:8554872
RGD:7240710
early infantile epileptic encephalopathy 29 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aars alanyl-tRNA synthetase JBrowse link 19 43,193,264 43,215,281 RGD:7240710
RGD:8554872
early infantile epileptic encephalopathy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc25a22 solute carrier family 25 member 22 JBrowse link 1 214,410,388 214,418,236 RGD:7240710
early infantile epileptic encephalopathy 30 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sik1 salt-inducible kinase 1 JBrowse link 20 10,670,747 10,680,279 RGD:8554872
RGD:7240710
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 3 11,392,046 11,409,218 RGD:8554872
G Dnm1 dynamin 1 JBrowse link 3 11,338,081 11,382,043 RGD:7240710
RGD:8554872
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 2 209,838,607 209,852,471 RGD:7240710
RGD:8554872
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 3 176,533,182 176,547,965 RGD:8554872
G Eef1a2 eukaryotic translation elongation factor 1 alpha 2 JBrowse link 3 176,657,104 176,666,282 RGD:7240710
RGD:8554872
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 3 176,585,897 176,645,029 RGD:8554872
G Ppdpf pancreatic progenitor cell differentiation and proliferation factor JBrowse link 3 176,690,507 176,692,272 RGD:8554872
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 3 161,433,303 161,465,078 RGD:7240710
RGD:8554872
early infantile epileptic encephalopathy 35 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itpa inosine triphosphatase JBrowse link 3 123,209,611 123,221,266 RGD:7240710
RGD:8554872
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 115,561,329 115,589,792 RGD:7240710
RGD:8554872
early infantile epileptic encephalopathy 37 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Frrs1l ferric-chelate reductase 1-like JBrowse link 5 73,997,958 74,029,381 RGD:8554872
RGD:7240710
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 19 57,484,720 57,496,539 RGD:8554872
RGD:7240710
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 3 57,881,951 57,998,214 RGD:7240710
RGD:8554872
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 3 11,970,401 12,009,463 RGD:8554872
G Niban2 niban apoptosis regulator 2 JBrowse link 3 11,921,715 11,971,327 RGD:8554872
G Stxbp1 syntaxin binding protein 1 JBrowse link 3 11,823,779 11,885,479 RGD:7240710
RGD:8554872
RGD:12903960
RGD:11068998
early infantile epileptic encephalopathy 40 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Guf1 GUF1 homolog, GTPase JBrowse link 14 62,609,484 62,628,862 RGD:8554872
RGD:7240710
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 3 92,518,679 92,665,731 RGD:8554872
RGD:7240710
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 19 25,453,236 25,749,550 RGD:8554872
RGD:7240710
early infantile epileptic encephalopathy 43 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gabrb3 gamma-aminobutyric acid type A receptor beta 3 subunit JBrowse link 1 113,034,251 113,265,364 RGD:8554872
RGD:7240710
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 8 112,578,607 112,594,192 RGD:8554872
RGD:7240710
early infantile epileptic encephalopathy 45 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gabrb1 gamma-aminobutyric acid type A receptor beta 1 subunit JBrowse link 14 38,631,192 39,112,598 RGD:8554872
RGD:7240710
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 1 101,819,068 101,859,146 RGD:8554872
RGD:7240710
early infantile epileptic encephalopathy 47 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgf12 fibroblast growth factor 12 JBrowse link 11 75,606,360 76,171,078 RGD:8554872
RGD:7240710
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 1 143,284,041 143,315,846 RGD:8554872
RGD:7240710
early infantile epileptic encephalopathy 49 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dennd5a DENN domain containing 5A JBrowse link 1 174,524,047 174,588,553 RGD:8554872
RGD:7240710
early infantile epileptic encephalopathy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sptan1 spectrin, alpha, non-erythrocytic 1 JBrowse link 3 8,534,437 8,599,259 RGD:7240710
RGD:8554872
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 6 26,657,507 26,680,459 RGD:7240710
RGD:8554872
early infantile epileptic encephalopathy 51 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mdh2 malate dehydrogenase 2 JBrowse link 12 23,941,451 23,954,406 RGD:8554872
RGD:7240710
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 89,550,738 89,560,469 RGD:8554872
RGD:7240710
early infantile epileptic encephalopathy 53 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Synj1 synaptojanin 1 JBrowse link 11 31,105,784 31,181,573 RGD:8554872
RGD:7240710
early infantile epileptic encephalopathy 54 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hnrnpu heterogeneous nuclear ribonucleoprotein U JBrowse link 13 96,222,093 96,238,845 RGD:8554872
RGD:7240710
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 11 34,592,128 34,598,253 RGD:8554872
RGD:7240710
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 12 23,789,547 23,817,884 RGD:8554872
RGD:7240710
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 13 57,130,855 57,520,263 RGD:8554872
RGD:7240710
early infantile epileptic encephalopathy 58 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ntrk2 neurotrophic receptor tyrosine kinase 2 JBrowse link 17 5,934,651 6,245,778 RGD:7240710
RGD:8554872
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 5 62,276,100 62,621,737 RGD:8554872
RGD:7240710
early infantile epileptic encephalopathy 60 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cnpy3 canopy FGF signaling regulator 3 JBrowse link 9 16,543,715 16,558,441 RGD:8554872
RGD:7240710
early infantile epileptic encephalopathy 61 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adam22 ADAM metallopeptidase domain 22 JBrowse link 4 22,864,485 23,002,969 RGD:8554872
RGD:7240710
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 3 51,530,897 51,643,140 RGD:8554872
RGD:7240710
early infantile epileptic encephalopathy 63 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cplx1 complexin 1 JBrowse link 14 2,194,895 2,226,610 RGD:8554872
RGD:7240710
early infantile epileptic encephalopathy 65 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyfip2 cytoplasmic FMR1 interacting protein 2 JBrowse link 10 31,278,746 31,419,235 RGD:8554872
RGD:7240710
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 6 137,824,136 137,889,144 RGD:8554872
RGD:7240710
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 3 176,585,897 176,645,029 RGD:7240710
RGD:8554872
G Nexmif neurite extension and migration factor JBrowse link X 74,943,440 75,053,559 RGD:8554872
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 64,249,576 64,428,444 RGD:7240710
RGD:8554872
early infantile epileptic encephalopathy 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcdh19 protocadherin 19 JBrowse link X 104,387,346 104,493,914 RGD:7240710
RGD:8554872
G Srpx2 sushi-repeat-containing protein, X-linked 2 JBrowse link X 104,734,035 104,760,658 RGD:8554872
G Tnmd tenomodulin JBrowse link X 104,684,676 104,700,173 RGD:8554872
G Tspan6 tetraspanin 6 JBrowse link X 104,719,930 104,729,606 RGD:8554872
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 15 51,465,148 51,485,562 RGD:8554872
RGD:7240710
Early Infantile Epileptic Encephalopathy, 67 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cux2 cut-like homeobox 2 JBrowse link 12 40,016,774 40,221,067 RGD:7240710
RGD:8554872
Early Infantile Epileptic Encephalopathy, 68 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trak1 trafficking kinesin protein 1 JBrowse link 8 129,946,596 130,106,382 RGD:8554872
RGD:7240710
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 13 71,899,445 72,534,992 RGD:8554872
RGD:7240710
Early Infantile Epileptic Encephalopathy, 70 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Phactr1 phosphatase and actin regulator 1 JBrowse link 17 23,245,423 23,761,207 RGD:8554872
RGD:7240710
Early Infantile Epileptic Encephalopathy, 71 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gls glutaminase JBrowse link 9 54,212,622 54,284,879 RGD:7240710
Early Infantile Epileptic Encephalopathy, 72 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Neurod2 neuronal differentiation 2 JBrowse link 10 86,280,865 86,282,681 RGD:7240710
Early Infantile Epileptic Encephalopathy, 73 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnf13 ring finger protein 13 JBrowse link 2 147,853,423 147,948,277 RGD:7240710
Early Infantile Epileptic Encephalopathy, 74 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gabrg2 gamma-aminobutyric acid type A receptor gamma 2 subunit JBrowse link 10 27,090,913 27,179,786 RGD:8554872
RGD:7240710
Early Infantile Epileptic Encephalopathy, 75 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pars2 prolyl-tRNA synthetase 2, mitochondrial JBrowse link 5 126,254,090 126,259,204 RGD:8554872
RGD:7240710
Early Infantile Epileptic Encephalopathy, 76 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actl6b actin-like 6B JBrowse link 12 22,194,595 22,211,107 RGD:8554872
generalized epilepsy with febrile seizures plus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gabrg2 gamma-aminobutyric acid type A receptor gamma 2 subunit JBrowse link 10 27,090,913 27,179,786 RGD:8554872
G Scn1a sodium voltage-gated channel alpha subunit 1 JBrowse link 3 52,388,811 52,533,365 RGD:1358571
RGD:8554872
RGD:13592920
G Scn1b sodium voltage-gated channel beta subunit 1 JBrowse link 1 89,550,738 89,560,469 RGD:8554872
RGD:13592920
G Scn9a sodium voltage-gated channel alpha subunit 9 JBrowse link 3 52,583,953 52,664,209 RGD:8554872
RGD:13592920
Generalized Epilepsy with Febrile Seizures Plus, Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scn1a sodium voltage-gated channel alpha subunit 1 JBrowse link 3 52,388,811 52,533,365 RGD:8554872
G Scn1b sodium voltage-gated channel beta subunit 1 JBrowse link 1 89,550,738 89,560,469 RGD:7240710
RGD:8554872
Generalized Epilepsy with Febrile Seizures Plus, Type 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 JBrowse link 2 50,099,576 50,499,799 RGD:7240710
Generalized Epilepsy with Febrile Seizures Plus, Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scn1a sodium voltage-gated channel alpha subunit 1 JBrowse link 3 52,388,811 52,533,365 RGD:727292
RGD:8554872
RGD:7240710
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 gamma 2 subunit JBrowse link 10 27,090,913 27,179,786 RGD:8554872
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 5 172,797,478 172,809,374 RGD:8554872
Generalized Epilepsy with Febrile Seizures Plus, Type 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scn9a sodium voltage-gated channel alpha subunit 9 JBrowse link 3 52,583,953 52,664,209 RGD:7240710
RGD:8554872
Generalized Epilepsy with Febrile Seizures Plus, Type 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stx1b syntaxin 1B JBrowse link 1 199,251,842 199,270,465 RGD:8554872
RGD:7240710
G Stx4 syntaxin 4 JBrowse link 1 199,287,384 199,295,606 RGD:8554872
G Zfp668 zinc finger protein 668 JBrowse link 1 199,310,935 199,321,231 RGD:8554872
Infantile or Early Childhood Epileptic Encephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnm1 dynamin 1 JBrowse link 3 11,338,081 11,382,043 RGD:11557016
G Ppp3ca protein phosphatase 3 catalytic subunit alpha JBrowse link 2 241,909,332 242,186,861 RGD:8554872
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 2 241,909,332 242,186,861 RGD:8554872
RGD:7240710
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 beta 2 subunit JBrowse link 10 27,973,694 28,193,072 RGD:8554872
RGD:7240710
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 11 61,531,386 61,584,634 RGD:8554872
RGD:7240710
microcephaly, seizures, and developmental delay term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnkp polynucleotide kinase 3'-phosphatase JBrowse link 1 100,853,475 100,859,202 RGD:7240710
RGD:8554872
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 31,786,823 31,799,751 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15043
    disease of anatomical entity 14177
      nervous system disease 9234
        central nervous system disease 6944
          brain disease 6445
            epilepsy 1022
              Generalized Epilepsy 252
                idiopathic generalized epilepsy 172
                  childhood onset epileptic encephalopathy + 136
                  generalized epilepsy with febrile seizures plus + 9
paths to the root

NHLBI Logo

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