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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:idiopathic generalized epilepsy
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Accession:DOID:1827 term browser browse the term
Definition:An epilepsy syndrome that is 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;   EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 10;   Generalised epilepsy
 narrow_synonym: EIG1
 related_synonym: IGE EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 1;   idiopathic generalized epilepsy, susceptibility to, 1
 primary_id: MESH:C562694
 alt_id: OMIM:600669;   RDO:0012295
 xref: NCI:C3021;   OMIM:PS600669
For additional species annotation, visit the Alliance of Genome Resources.


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idiopathic generalized epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca3 ATP binding cassette subfamily A member 3 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:13,723,365...13,780,558
Ensembl chr10:13,723,405...13,779,963
JBrowse link
G Ankrd65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:173,237,642...173,239,899
Ensembl chr 5:173,237,642...173,239,899
JBrowse link
G Antkmt adenine nucleotide translocase lysine methyltransferase ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:15,160,037...15,161,895
Ensembl chr10:15,159,803...15,161,938
JBrowse link
G Atad3a ATPase family, AAA domain containing 3A ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:173,189,590...173,209,809
Ensembl chr 5:173,189,592...173,209,768
JBrowse link
G Aurkaip1 aurora kinase A interacting protein 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:173,274,433...173,276,170
Ensembl chr 5:173,256,637...173,276,169
JBrowse link
G Baiap3 BAI1-associated protein 3 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,601,133...14,613,881
Ensembl chr10:14,599,197...14,613,878
JBrowse link
G Bricd5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:13,839,599...13,841,132
Ensembl chr10:13,839,956...13,841,018
JBrowse link
G Cacna1h calcium voltage-gated channel subunit alpha1 H ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:12891677, PMID:14729682, PMID:15048902, PMID:15852375, PMID:15888660, PMID:16754686, PMID:17696120, PMID:21703448, PMID:23757202, PMID:24277868, PMID:24972929, PMID:25741868, PMID:25773295, PMID:25907736, PMID:26467025, PMID:26706850, PMID:27066544, PMID:27148582, PMID:27331657, PMID:27729216, PMID:28492532, PMID:28842445, PMID:29588962, PMID:29924869, PMID:29948376, PMID:31070086, PMID:31139143 NCBI chr10:14,730,932...14,789,201
Ensembl chr10:14,730,941...14,788,617
JBrowse link
G Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 ISS OMIM:600669 | OMIM:604827 | OMIM:606972 | OMIM:607628 | OMIM:607682 | OMIM:608762 | OMIM:609750 | OMIM:611136 | OMIM:611934 | OMIM:612899 | OMIM:613060 | OMIM:614847 | OMIM:616685 MouseDO NCBI chr 8:116,154,661...116,285,643
Ensembl chr 8:116,154,736...116,284,985
JBrowse link
G Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:10762541, PMID:18755274, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 3:37,950,846...38,211,478
Ensembl chr 3:37,955,069...38,090,526
JBrowse link
G Caskin1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:13,853,107...13,874,254
Ensembl chr10:13,854,339...13,874,254
JBrowse link
G Casr calcium-sensing receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
CTD
ClinVar
PMID:25741868 NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
JBrowse link
G Ccdc154 coiled-coil domain containing 154 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,518,240...14,529,920
Ensembl chr10:14,519,164...14,528,277
JBrowse link
G Ccdc78 coiled-coil domain containing 78 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:15,155,839...15,160,039
Ensembl chr10:15,156,207...15,159,894
JBrowse link
G Ccnf cyclin F ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:13,594,687...13,619,935
Ensembl chr10:13,594,687...13,619,935
JBrowse link
G Ccnl2 cyclin L2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:173,256,301...173,268,279
Ensembl chr 5:173,256,637...173,276,169
JBrowse link
G Cdk11b cyclin-dependent kinase 11B ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:173,051,900...173,078,049
Ensembl chr 5:173,052,063...173,078,046
JBrowse link
G Cfap74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:172,817,221...172,884,996
Ensembl chr 5:172,825,072...172,858,053
JBrowse link
G Chtf18 chromosome transmission fidelity factor 18 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:15,090,762...15,098,825
Ensembl chr10:15,090,316...15,098,791
JBrowse link
G Ciao3 cytosolic iron-sulfur assembly component 3 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:15,143,732...15,152,706
Ensembl chr10:15,143,713...15,153,396
JBrowse link
G Cilk1 ciliogenesis associated kinase 1 ISO ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 10 ClinVar PMID:29539279 NCBI chr 8:85,413,998...85,473,374
Ensembl chr 8:85,413,537...85,472,694
JBrowse link
G Clcn2 chloride voltage-gated channel 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:82,862,664...82,876,165
Ensembl chr11:83,883,879...83,897,394
JBrowse link
G Clcn7 chloride voltage-gated channel 7 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,492,844...14,518,167
Ensembl chr10:14,492,844...14,516,894
JBrowse link
G Cptp ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:173,314,219...173,318,384
Ensembl chr 5:173,314,228...173,318,313
JBrowse link
G Cramp1 cramped chromatin regulator homolog 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,324,799...14,373,413
Ensembl chr10:14,326,802...14,373,334
JBrowse link
G Dnase1l2 deoxyribonuclease 1 like 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:13,812,335...13,814,514
Ensembl chr10:13,812,707...13,814,304
JBrowse link
G Dnm1 dynamin 1 ISS OMIM:600669 | OMIM:604827 | OMIM:606972 | OMIM:607628 | OMIM:607682 | OMIM:608762 | OMIM:609750 | OMIM:611136 | OMIM:611934 | OMIM:612899 | OMIM:613060 | OMIM:614847 | OMIM:616685 MouseDO NCBI chr 3:11,338,081...11,382,043
Ensembl chr 3:11,338,083...11,382,043
JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:173,295,948...173,308,014
Ensembl chr 5:173,296,270...173,307,945
JBrowse link
G E4f1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:13,812,335...13,835,847
Ensembl chr10:13,815,293...13,826,945
JBrowse link
G Eci1 enoyl-CoA delta isomerase 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:13,797,573...13,810,918
Ensembl chr10:13,797,562...13,810,913
JBrowse link
G Eme2 essential meiotic structure-specific endonuclease subunit 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,253,552...14,257,017
Ensembl chr10:14,254,252...14,256,930
JBrowse link
G Fahd1 fumarylacetoacetate hydrolase domain containing 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,214,518...14,215,957
Ensembl chr10:14,214,519...14,215,957
JBrowse link
G Fbxl16 F-box and leucine-rich repeat protein 16 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:15,176,489...15,188,729
Ensembl chr10:15,183,803...15,186,978
JBrowse link
G Fndc10 fibronectin type III domain containing 10 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:173,139,345...173,141,564 JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 ISO
ISS
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
OMIM:600669 | OMIM:604827 | OMIM:606972 | OMIM:607628 | OMIM:607682 | OMIM:608762 | OMIM:609750 | OMIM:611136 | OMIM:611934 | OMIM:612899 | OMIM:613060 | OMIM:614847 | OMIM:616685
ClinVar
MouseDO
PMID:9126483, PMID:11992121, PMID:16530959, PMID:16569738, PMID:16718694, PMID:18414213, PMID:20551311, PMID:21714819, PMID:22190369, PMID:23934111, PMID:24623842, PMID:24811917, PMID:25741868, PMID:26467025, PMID:26918889, PMID:27353043, PMID:27521439, PMID:27622563, PMID:28251550, PMID:28492532, PMID:28864462, PMID:29186148, PMID:29655203, PMID:32238909 NCBI chr10:27,310,718...27,371,802
Ensembl chr10:27,310,725...27,366,665
JBrowse link
G Gabra6 gamma-aminobutyric acid type A receptor subunit alpha6 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:22190369, PMID:24811917, PMID:28492532 NCBI chr10:27,847,447...27,862,896
Ensembl chr10:27,847,439...27,862,868
JBrowse link
G Gabrb2 gamma-aminobutyric acid type A receptor subunit beta 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:22190369, PMID:24811917, PMID:28492532 NCBI chr10:27,973,694...28,193,072
Ensembl chr10:27,973,681...28,187,565
JBrowse link
G Gabrd gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:15115768, PMID:16023832, PMID:16256272, PMID:16452673, PMID:17559416, PMID:20352446, PMID:23216579, PMID:24249596, PMID:25741868, PMID:26467025, PMID:28383543, PMID:28492532 NCBI chr 5:172,797,478...172,809,374
Ensembl chr 5:172,797,450...172,809,353
JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:22190369, PMID:24811917, PMID:28492532 NCBI chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900
JBrowse link
G Gfer growth factor, augmenter of liver regeneration ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,059,347...14,061,703
Ensembl chr10:14,059,347...14,061,703
JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:172,914,025...172,981,403
Ensembl chr 5:172,934,990...172,979,986
JBrowse link
G Gng13 G protein subunit gamma 13 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:15,088,935...15,090,839
Ensembl chr10:15,088,935...15,090,839
JBrowse link
G Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,593,050...14,597,995
Ensembl chr10:14,593,056...14,597,969
JBrowse link
G Hagh hydroxyacyl glutathione hydrolase ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,215,913...14,230,506
Ensembl chr10:14,216,155...14,230,515
JBrowse link
G Haghl hydroxyacylglutathione hydrolase-like ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:15,152,736...15,157,221
Ensembl chr10:15,152,709...15,155,412
JBrowse link
G Hs3st6 heparan sulfate-glucosamine 3-sulfotransferase 6 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,122,856...14,128,984
Ensembl chr10:14,122,878...14,128,983
JBrowse link
G Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,373,668...14,461,509
Ensembl chr10:14,373,679...14,461,160
JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,240,308...14,243,554
Ensembl chr10:14,240,219...14,243,597
JBrowse link
G Ints11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:173,318,435...173,336,930
Ensembl chr 5:173,318,479...173,336,930
JBrowse link
G Jmjd8 jumonji domain containing 8 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:15,195,954...15,198,870
Ensembl chr10:15,195,969...15,198,868
JBrowse link
G Jpt2 Jupiter microtubule associated homolog 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,304,108...14,324,170
Ensembl chr10:14,304,104...14,324,211
JBrowse link
G Lmf1 lipase maturation factor 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,945,185...15,031,855
Ensembl chr10:14,945,265...15,031,942
JBrowse link
G Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,259,394...14,299,276
Ensembl chr10:14,260,787...14,299,167
JBrowse link
G Mcrip2 MAPK regulated co-repressor interacting protein 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:15,230,801...15,235,740
Ensembl chr10:15,230,801...15,235,740
JBrowse link
G Meiob meiosis specific with OB-fold ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,174,645...14,206,026
Ensembl chr10:14,174,732...14,206,025
JBrowse link
G Metrn meteorin, glial cell differentiation regulator ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:15,164,439...15,166,457
Ensembl chr10:15,164,439...15,166,457
JBrowse link
G Mettl26 methyltransferase like 26 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:15,239,753...15,255,054
Ensembl chr10:15,241,590...15,252,413
JBrowse link
G Mib2 mindbomb E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:173,082,943...173,099,353
Ensembl chr 5:173,082,943...173,098,816
JBrowse link
G Mlst8 MTOR associated protein, LST8 homolog ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:13,839,250...13,845,001
Ensembl chr10:13,839,250...13,845,001
JBrowse link
G Mmp23 matrix metallopeptidase 23 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:173,078,811...173,082,834
Ensembl chr 5:173,078,590...173,081,839
JBrowse link
G Mrpl20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:173,248,245...173,252,775
Ensembl chr 5:173,248,245...173,252,775
JBrowse link
G Mrps34 mitochondrial ribosomal protein S34 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,257,001...14,258,132
Ensembl chr10:14,257,001...14,258,132
JBrowse link
G Msln mesothelin ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:15,119,700...15,129,129
Ensembl chr10:15,119,663...15,125,408
JBrowse link
G Msrb1 methionine sulfoxide reductase B1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,105,750...14,111,463
Ensembl chr10:14,105,750...14,111,463
JBrowse link
G Mxra8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:173,288,200...173,292,926
Ensembl chr 5:173,288,447...173,292,929
JBrowse link
G Nadk NAD kinase ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:172,984,930...173,015,505
Ensembl chr 5:172,986,291...173,015,494
JBrowse link
G Ndufb10 NADH:ubiquinone oxidoreductase subunit B10 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,090,128...14,092,289
Ensembl chr10:14,090,128...14,092,289
JBrowse link
G Nme3 NME/NM23 nucleoside diphosphate kinase 3 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,258,232...14,259,365
Ensembl chr10:14,258,380...14,259,336
JBrowse link
G Noxo1 NADPH oxidase organizer 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,062,331...14,066,918
Ensembl chr10:14,062,331...14,066,918
JBrowse link
G Npw neuropeptide W ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,021,187...14,022,452
Ensembl chr10:14,021,187...14,022,452
JBrowse link
G Nthl1 nth-like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:13,996,660...14,002,827
Ensembl chr10:13,996,645...14,002,910
JBrowse link
G Ntn3 netrin 3 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:13,577,725...13,580,821
Ensembl chr10:13,577,725...13,580,821
JBrowse link
G Nubp2 nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,244,201...14,247,930
Ensembl chr10:14,244,203...14,247,886
JBrowse link
G Pgp phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:13,836,105...13,838,731
Ensembl chr10:13,836,128...13,838,765
JBrowse link
G Pigq phosphatidylinositol glycan anchor biosynthesis, class Q ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:15,289,530...15,305,593
Ensembl chr10:15,289,536...15,305,549
JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:13,914,057...13,962,008
Ensembl chr10:13,915,214...13,962,008
JBrowse link
G Ptx4 pentraxin 4 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,481,044...14,486,277
Ensembl chr10:14,481,393...14,485,916
JBrowse link
G Rab26 RAB26, member RAS oncogene family ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:13,894,271...13,898,578
Ensembl chr10:13,893,290...13,898,855
JBrowse link
G Rab40c Rab40c, member RAS oncogene family ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:15,247,913...15,283,111
Ensembl chr10:15,247,914...15,282,951
JBrowse link
G Rbfox1 RNA binding fox-1 homolog 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:23286373, PMID:25741868, PMID:26467025, PMID:28346479, PMID:28492532, PMID:29358611 NCBI chr10:8,312,961...10,437,778
Ensembl chr10:8,312,961...8,654,892
JBrowse link
G Rbfox3 RNA binding fox-1 homolog 3 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:25741868, PMID:28492532 NCBI chr10:107,517,916...107,850,764
Ensembl chr10:107,516,995...107,539,658
JBrowse link
G RGD1565784 RGD1565784 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,543,196...14,544,498
Ensembl chr10:14,543,200...14,545,000
JBrowse link
G Rhbdl1 rhomboid like 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:15,201,503...15,205,856
Ensembl chr10:15,201,503...15,204,143
JBrowse link
G Rhot2 ras homolog family member T2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:15,205,943...15,211,739
Ensembl chr10:15,205,534...15,211,325
JBrowse link
G Rnf151 ring finger protein 151 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,083,538...14,088,011
Ensembl chr10:14,083,538...14,085,855
JBrowse link
G Rnps1 RNA binding protein with serine rich domain 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:13,786,339...13,796,720
Ensembl chr10:13,786,459...13,796,717
JBrowse link
G Rpl3l ribosomal protein L3-like ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,094,769...14,105,312
Ensembl chr10:14,094,754...14,105,308
JBrowse link
G Rps2 ribosomal protein S2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,088,171...14,090,020
Ensembl chr10:14,088,319...14,089,979
JBrowse link
G Rpusd1 RNA pseudouridine synthase domain containing 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:15,099,104...15,102,968
Ensembl chr10:15,099,009...15,102,960
JBrowse link
G Slc12a5 solute carrier family 12 member 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:161,433,303...161,465,078
Ensembl chr 3:161,425,988...161,462,879
JBrowse link
G Slc35e2b solute carrier family 35, member E2B ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:173,024,335...173,050,228
Ensembl chr 5:173,024,335...173,046,194
JBrowse link
G Slc9a3r2 SLC9A3 regulator 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,003,330...14,015,066
Ensembl chr10:14,003,320...14,013,870
JBrowse link
G Sox8 SRY-box transcription factor 8 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,932,348...14,937,336
Ensembl chr10:14,932,348...14,937,336
JBrowse link
G Spsb3 splA/ryanodine receptor domain and SOCS box containing 3 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,248,199...14,253,815
Ensembl chr10:14,248,399...14,253,815
JBrowse link
G Sstr5 somatostatin receptor 5 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,847,749...14,853,827
Ensembl chr10:14,847,749...14,853,827
JBrowse link
G Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:173,152,964...173,182,720
Ensembl chr 5:173,152,964...173,182,719
JBrowse link
G Stub1 STIP1 homology and U-box containing protein 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:15,197,754...15,200,035
Ensembl chr10:15,197,803...15,200,117
JBrowse link
G Syngr3 synaptogyrin 3 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,051,413...14,056,169
Ensembl chr10:14,051,415...14,056,169
JBrowse link
G Tas1r3 taste 1 receptor member 3 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:173,307,325...173,312,950
Ensembl chr 5:173,308,870...173,312,023
JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
JBrowse link
G Tbl3 transducin (beta)-like 3 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,066,984...14,072,197
Ensembl chr10:14,066,948...14,072,230
JBrowse link
G Tedc2 tubulin epsilon and delta complex 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:13,586,852...13,591,938
Ensembl chr10:13,586,648...13,591,953
JBrowse link
G Telo2 telomere maintenance 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,461,581...14,476,812
Ensembl chr10:14,461,839...14,476,785
JBrowse link
G Tmem204 transmembrane protein 204 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,417,608...14,446,272
Ensembl chr10:14,417,609...14,443,010
JBrowse link
G Tmem240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:173,182,815...173,189,683
Ensembl chr 5:173,183,990...173,188,924
JBrowse link
G Tmem52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:172,887,587...172,889,349
Ensembl chr 5:172,887,217...172,889,383
JBrowse link
G Tmem88b transmembrane protein 88B ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:173,230,364...173,233,188
Ensembl chr 5:173,230,364...173,233,188
JBrowse link
G Tpsab1 tryptase alpha/beta 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,701,253...14,703,668
Ensembl chr10:14,701,253...14,703,668
JBrowse link
G Tpsb2 tryptase beta 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,722,672...14,724,464
Ensembl chr10:14,722,756...14,724,600
JBrowse link
G Tpsg1 tryptase gamma 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,724,531...14,731,259
Ensembl chr10:14,727,180...14,731,086
JBrowse link
G Traf7 TNF receptor associated factor 7 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:13,874,444...13,893,090
Ensembl chr10:13,874,456...13,892,997
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
JBrowse link
G Tsr3 TSR3 ribosome maturation factor ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,598,014...14,600,576
Ensembl chr10:14,598,014...14,600,576
JBrowse link
G Ube2i ubiquitin-conjugating enzyme E2I ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,618,615...14,639,274
Ensembl chr10:14,620,531...14,630,151
JBrowse link
G Unkl unk like zinc finger ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,547,126...14,593,090
Ensembl chr10:14,547,172...14,590,762
JBrowse link
G Vwa1 von Willebrand factor A domain containing 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:173,216,737...173,221,923
Ensembl chr 5:173,216,741...173,222,440
JBrowse link
G Wdr24 WD repeat domain 24 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:15,191,078...15,195,860
Ensembl chr10:15,191,078...15,195,860
JBrowse link
G Wdr90 WD repeat domain 90 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:15,211,660...15,229,477
Ensembl chr10:15,211,960...15,228,235
JBrowse link
G Wfikkn1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:15,243,429...15,245,757
Ensembl chr10:15,243,429...15,245,757
JBrowse link
G Zfp598 zinc finger protein 598 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:14,035,114...14,047,100
Ensembl chr10:14,035,149...14,047,096
JBrowse link
childhood onset epileptic encephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:15,610,230...15,616,727
Ensembl chr  X:15,598,652...15,617,665
JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:16813600, PMID:18414213, PMID:21775177, PMID:22867051, PMID:25741868, PMID:28492532 NCBI chr  X:35,536,396...35,773,204
Ensembl chr  X:35,599,258...35,771,711
JBrowse link
G Chd2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset
ClinVar Annotator: match by OMIM:615369
OMIM
ClinVar
PMID:2578359, PMID:15955779, PMID:17350655, PMID:22178256, PMID:22495311, PMID:22865819, PMID:23020937, PMID:23708187, PMID:23934111, PMID:24207121, PMID:24614520, PMID:24932903, PMID:25262651, PMID:25284784, PMID:25326635, PMID:25418537, PMID:25672921, PMID:25741868, PMID:25783594, PMID:26467025, PMID:26615199, PMID:26754451, PMID:26795593, PMID:28074849, PMID:28492532, PMID:28960266, PMID:29358611, PMID:29720203, PMID:29740950, PMID:30564305, PMID:30868116, PMID:32238909 NCBI chr 1:134,757,934...134,873,053
Ensembl chr 1:134,757,934...134,871,167
JBrowse link
G Dnm1 dynamin 1 ISO RGD PMID:27363778 RGD:11557016 NCBI chr 3:11,338,081...11,382,043
Ensembl chr 3:11,338,083...11,382,043
JBrowse link
G Fgf12 fibroblast growth factor 12 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:27164707, PMID:27830185 NCBI chr11:75,606,360...76,171,078
Ensembl chr11:75,905,443...76,168,989
JBrowse link
G Fmr1 FMRP translational regulator 1 IEP protein:decreased expression:hippocampus, cytosol (rat) RGD PMID:23831253 RGD:11667971 NCBI chr  X:154,684,924...154,722,369
Ensembl chr  X:154,684,935...154,722,314
JBrowse link
G Praf2 PRA1 domain family, member 2 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:15,618,324...15,620,992
Ensembl chr  X:15,618,991...15,620,841
JBrowse link
G Rbfox1 RNA binding fox-1 homolog 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr10:8,312,961...10,437,778
Ensembl chr10:8,312,961...8,654,892
JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:16813600, PMID:18414213, PMID:21775177, PMID:22867051, PMID:25741868, PMID:28492532 NCBI chr  X:35,749,957...35,777,243
Ensembl chr  X:35,749,957...35,777,243
JBrowse link
G Slc13a5 solute carrier family 13 member 5 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:24033266, PMID:24995870, PMID:26384929, PMID:27261973, PMID:27600704, PMID:28492532 NCBI chr10:58,806,581...58,835,549
Ensembl chr10:58,810,058...58,834,538
JBrowse link
G Srgap2 SLIT-ROBO Rho GTPase activating protein 2 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr13:48,065,280...48,286,888
Ensembl chr13:48,068,158...48,286,720
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:18414213, PMID:25356970, PMID:25741868, PMID:26865513, PMID:26993267, PMID:28492532 NCBI chr 3:11,823,779...11,885,479
Ensembl chr 3:11,823,785...11,885,417
JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO DNA:misense, nonsense mutations:cds:c.468C>A (C156X), c.686T>C(F229S)(human) RGD PMID:23526554 RGD:11537471 NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
JBrowse link
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:15,621,249...15,627,159
Ensembl chr  X:15,621,209...15,627,235
JBrowse link
early infantile epileptic encephalopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr  X:115,561,329...115,589,792
Ensembl chr  X:115,561,332...115,619,505
JBrowse link
G Arx aristaless related homeobox ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome
associated with Mental Retardation, X-Linked;DNA:insertion:cds:c.333_334ins(GCG)7 (human)
ClinVar Annotator: match by OMIM:308350
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:1605226, PMID:2080994, PMID:3177452, PMID:5008734, PMID:8826464, PMID:10353782, PMID:10398246, PMID:11889467, PMID:11971879, PMID:12116222, PMID:12177367, PMID:12376938, PMID:12376946, PMID:12376949, PMID:12379852, PMID:12640086, PMID:12874418, PMID:14722918, PMID:15151512, PMID:15200506, PMID:15850492, PMID:16078051, PMID:16235064, PMID:16523516, PMID:17331656, PMID:17480217, PMID:17641262, PMID:17668384, PMID:18414213, PMID:18462864, PMID:19439424, PMID:19507262, PMID:19606478, PMID:19738637, PMID:20148114, PMID:20300201, PMID:20384723, PMID:20506206, PMID:21108397, PMID:21204215, PMID:21204226, PMID:21426321, PMID:21496008, PMID:22252899, PMID:22922607, PMID:23039062, PMID:23246292, PMID:24643514, PMID:24781210, PMID:25044608, PMID:25741868, PMID:26029707, PMID:26337422, PMID:26467025, PMID:27781032, PMID:28150386, PMID:28492532, PMID:29152528, PMID:30255221, PMID:32313153, PMID:17664401, PMID:19587282 RGD:11565846, RGD:11565838 NCBI chr  X:62,363,757...62,376,139
Ensembl chr  X:62,363,757...62,376,143
JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
JBrowse link
G Ccnf cyclin F ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:22277662, PMID:24033266, PMID:24848745, PMID:25741868, PMID:26371875, PMID:26467025, PMID:27259978, PMID:27281533, PMID:28301460, PMID:28492532, PMID:29358611 NCBI chr10:13,594,687...13,619,935
Ensembl chr10:13,594,687...13,619,935
JBrowse link
G Csnk1e casein kinase 1, epsilon ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar NCBI chr 7:120,651,976...120,675,559
Ensembl chr 7:120,651,881...120,672,359
JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr 1:113,034,251...113,265,364
Ensembl chr 1:112,976,770...113,265,364
JBrowse link
G Gnao1 G protein subunit alpha o1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr19:11,513,201...11,669,578
Ensembl chr19:11,513,201...11,669,578
JBrowse link
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24747641 NCBI chr 2:50,099,576...50,499,799
Ensembl chr 2:50,099,576...50,499,799
JBrowse link
G Kcna2 potassium voltage-gated channel subfamily A member 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:1377421, PMID:1706481, PMID:8046438, PMID:8158277, PMID:8663992, PMID:8663993, PMID:9525859, PMID:11331357, PMID:12127166, PMID:12214225, PMID:14765197, PMID:15694325, PMID:16002579, PMID:16002581, PMID:16075038, PMID:16704338, PMID:17634333, PMID:20696761, PMID:21044565, PMID:25477152, PMID:25741868, PMID:25751627, PMID:26648591, PMID:27062609, PMID:27117551, PMID:27543892, PMID:27733563, PMID:28019717, PMID:28032718, PMID:28492532 NCBI chr 2:209,838,607...209,852,471
Ensembl chr 2:209,838,869...209,852,471
JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
JBrowse link
G Maf MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868, PMID:26467025, PMID:28492532, PMID:29358611, PMID:29390993 NCBI chr19:48,179,826...48,200,995
Ensembl chr19:48,194,804...48,196,748
JBrowse link
G Napb NSF attachment protein beta ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar NCBI chr 3:143,017,571...143,063,904
Ensembl chr 3:143,020,454...143,063,983
JBrowse link
G Nrxn2 neurexin 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar NCBI chr 1:221,792,191...221,908,047
Ensembl chr 1:221,792,221...221,908,049
JBrowse link
G Plcb1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr 3:127,721,244...128,419,565
Ensembl chr 3:128,155,069...128,419,545
JBrowse link
G Pola1 DNA polymerase alpha 1, catalytic subunit ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr  X:62,382,604...62,698,830
Ensembl chr  X:62,382,608...62,698,830
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
JBrowse link
G Slc35a2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr  X:15,453,184...15,461,990
Ensembl chr  X:15,453,186...15,461,713
JBrowse link
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr 5:136,765,309...136,965,642
Ensembl chr 5:136,766,208...136,965,191
JBrowse link
G Synj1 synaptojanin 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868, PMID:28492532 NCBI chr11:31,105,784...31,181,573
Ensembl chr11:31,104,787...31,180,642
JBrowse link
G Szt2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868, PMID:28492532 NCBI chr 5:137,192,120...137,238,384
Ensembl chr 5:137,190,875...137,238,354
JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome
ClinVar PMID:10574461, PMID:18414213, PMID:20727515, PMID:22277662, PMID:23184456, PMID:23526554, PMID:23806086, PMID:24033266, PMID:24088043, PMID:24291220, PMID:24387994, PMID:24469796, PMID:24848745, PMID:25169651, PMID:25557349, PMID:25719194, PMID:25741868, PMID:25769375, PMID:26207815, PMID:26371875, PMID:26467025, PMID:26668325, PMID:27259978, PMID:27281533, PMID:27502353, PMID:27541164, PMID:28072960, PMID:28292732, PMID:28301460, PMID:28428906, PMID:28492532, PMID:28663785, PMID:29100083, PMID:29358611, PMID:29671961, PMID:30108545, PMID:30180405, PMID:30311386, PMID:30335140, PMID:31112829, PMID:31257402 NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
JBrowse link
G Wwox WW domain-containing oxidoreductase ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome
ClinVar PMID:11572989, PMID:20480411, PMID:21983861, PMID:24082139, PMID:24456803, PMID:25403906, PMID:25411445, PMID:25558065, PMID:25612104, PMID:25741868, PMID:26467025, PMID:27495153, PMID:27569545, PMID:27717089, PMID:27884173, PMID:28492532, PMID:29358611, PMID:29390993, PMID:29675105, PMID:29852413, PMID:29905011 NCBI chr19:46,761,353...47,695,247 JBrowse link
early infantile epileptic encephalopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bend2 BEN domain containing 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117, PMID:19780792, PMID:20493745, PMID:21770923, PMID:23184456, PMID:23828526, PMID:25315662, PMID:28492532 NCBI chr  X:35,151,376...35,200,501 JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 severity ISO ClinVar Annotator: match by OMIM:300672
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2
ClinVar Annotator: match by term: INFANTILE SPASM SYNDROME, X-LINKED 2
DNA:mutations:cds:
ClinVar
OMIM
PMID:15492925, PMID:15499549, PMID:15689447, PMID:15917271, PMID:16015284, PMID:16326141, PMID:16330482, PMID:16611748, PMID:16813600, PMID:17256798, PMID:17993579, PMID:18063413, PMID:18076117, PMID:18414213, PMID:18564362, PMID:18790821, PMID:18809835, PMID:19161156, PMID:19241098, PMID:19253388, PMID:19362436, PMID:19396824, PMID:19428276, PMID:19471977, PMID:19564592, PMID:19740913, PMID:19780792, PMID:19793311, PMID:19807736, PMID:20397747, PMID:20479760, PMID:20493745, PMID:20602487, PMID:20848651, PMID:21160487, PMID:21293276, PMID:21309761, PMID:21318334, PMID:21482751, PMID:21765152, PMID:21770923, PMID:21775177, PMID:21802232, PMID:22264704, PMID:22430159, PMID:22670135, PMID:22678952, PMID:22779007, PMID:22812903, PMID:22832775, PMID:22867051, PMID:22872100, PMID:22922712, PMID:22982301, PMID:23064044, PMID:23151060, PMID:23184456, PMID:23236174, PMID:23238081, PMID:23242510, PMID:23262346, PMID:23583054, PMID:23647072, PMID:23828526, PMID:23934111, PMID:24564546, PMID:24715584, PMID:25266480, PMID:25315662, PMID:25326635, PMID:25657822, PMID:25741868, PMID:25819767, PMID:26467025, PMID:26482601, PMID:27081548, PMID:27187038, PMID:27848944, PMID:28492532, PMID:28837158, PMID:29190809, PMID:29264392, PMID:29390993, PMID:29420175, PMID:29444904, PMID:29655203, PMID:30311386, PMID:30776697, PMID:31791873, PMID:22678952 RGD:12791015 NCBI chr  X:35,536,396...35,773,204
Ensembl chr  X:35,599,258...35,771,711
JBrowse link
G Nhs NHS actin remodeling regulator ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117, PMID:19780792, PMID:20493745, PMID:21770923, PMID:23184456, PMID:23828526, PMID:25315662, PMID:28492532 NCBI chr  X:34,312,102...34,675,912
Ensembl chr  X:34,623,405...34,673,742
JBrowse link
G Rai2 retinoic acid induced 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117, PMID:19780792, PMID:20493745, PMID:21770923, PMID:23184456, PMID:23828526, PMID:25315662, PMID:28492532 NCBI chr  X:34,731,891...34,794,589
Ensembl chr  X:34,731,891...34,794,589
JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2
ClinVar Annotator: match by term: INFANTILE SPASM SYNDROME, X-LINKED 2
ClinVar PMID:15499549, PMID:16813600, PMID:18076117, PMID:18414213, PMID:18564362, PMID:19241098, PMID:19428276, PMID:19780792, PMID:20479760, PMID:20493745, PMID:21160487, PMID:21770923, PMID:21775177, PMID:21802232, PMID:22867051, PMID:23184456, PMID:23242510, PMID:23828526, PMID:25315662, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29264392, PMID:29655203, PMID:30311386 NCBI chr  X:35,749,957...35,777,243
Ensembl chr  X:35,749,957...35,777,243
JBrowse link
G Scml1 Scm polycomb group protein like 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117, PMID:19780792, PMID:20493745, PMID:21770923, PMID:23184456, PMID:23828526, PMID:25315662, PMID:28492532 NCBI chr  X:34,676,728...34,694,251 JBrowse link
G Scml2 Scm polycomb group protein like 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117, PMID:19780792, PMID:20493745, PMID:21770923, PMID:23184456, PMID:23828526, PMID:25315662, PMID:28492532 NCBI chr  X:35,305,235...35,431,271
Ensembl chr  X:35,305,236...35,431,164
JBrowse link
generalized epilepsy with febrile seizures plus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus ClinVar NCBI chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO
ISS
DNA:missense mutation:cds:p.V1417A (human)
ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus
OMIM:604233 | OMIM:604403 | OMIM:609800 | OMIM:611277 | OMIM:612279 | OMIM:613828 | OMIM:613863
ClinVar
MouseDO
PMID:24337656, PMID:25741868, PMID:26467025, PMID:28492532, PMID:11823106 RGD:1358571 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISS
ISO
OMIM:604233 | OMIM:604403 | OMIM:609800 | OMIM:611277 | OMIM:612279 | OMIM:613828 | OMIM:613863
ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus
MouseDO
ClinVar
PMID:5421039, PMID:9461582, PMID:9539778, PMID:9697698, PMID:11254444, PMID:11263970, PMID:11866477, PMID:12011299, PMID:12486163, PMID:14504340, PMID:14690046, PMID:15710580, PMID:15857929, PMID:16205844, PMID:17020904, PMID:17928445, PMID:18941776, PMID:20437590, PMID:20628201, PMID:21994374, PMID:22292491, PMID:22425777, PMID:23527921, PMID:23584539, PMID:24065921, PMID:24567321, PMID:24605816, PMID:24623842, PMID:24747835, PMID:25741868, PMID:25827112, PMID:26467025, PMID:27216889, PMID:27277800, PMID:28331474, PMID:28492532, PMID:206282012 NCBI chr 1:89,550,738...89,560,469
Ensembl chr 1:89,550,738...89,560,719
JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus ClinVar PMID:21698661, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 3:52,583,953...52,664,209
Ensembl chr 3:52,583,951...52,664,209
JBrowse link
generalized epilepsy with febrile seizures plus 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 1
ClinVar PMID:10521305, PMID:10742094, PMID:11254444, PMID:11254445, PMID:11524484, PMID:11567038, PMID:11756608, PMID:12086636, PMID:12576172, PMID:12919402, PMID:14672992, PMID:14702334, PMID:16075041, PMID:16525050, PMID:17507202, PMID:17561957, PMID:18413471, PMID:18804930, PMID:18930999, PMID:19464195, PMID:20117752, PMID:20522430, PMID:20550552, PMID:20600615, PMID:20729507, PMID:22780858, PMID:23195492, PMID:25348405, PMID:25576396, PMID:25741868, PMID:26096185, PMID:27066544, PMID:28192756, PMID:28492532 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 1
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:5421039, PMID:9461582, PMID:9539778, PMID:9697698, PMID:11254444, PMID:11263970, PMID:11866477, PMID:12011299, PMID:12486163, PMID:14504340, PMID:14690046, PMID:15671291, PMID:15710580, PMID:15857929, PMID:16205844, PMID:17020904, PMID:17604911, PMID:17629415, PMID:17928445, PMID:18941776, PMID:19522081, PMID:19808477, PMID:20226894, PMID:20437590, PMID:20628201, PMID:20662403, PMID:21994374, PMID:22155597, PMID:22155598, PMID:22284586, PMID:22292491, PMID:22425777, PMID:22840528, PMID:23414114, PMID:23465283, PMID:23527921, PMID:23584539, PMID:23861362, PMID:24033266, PMID:24065921, PMID:24529773, PMID:24567321, PMID:24605816, PMID:24623842, PMID:24662403, PMID:24747835, PMID:25253298, PMID:25668026, PMID:25741868, PMID:25827112, PMID:26042039, PMID:26467025, PMID:26498160, PMID:27216889, PMID:27277800, PMID:27435932, PMID:27896052, PMID:28218389, PMID:28331474, PMID:28341588, PMID:28492532, PMID:28837624, PMID:29758173, PMID:31465153, PMID:206282012 NCBI chr 1:89,550,738...89,560,469
Ensembl chr 1:89,550,738...89,560,719
JBrowse link
generalized epilepsy with febrile seizures plus 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 ISO ClinVar Annotator: match by term: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 10 OMIM
ClinVar
PMID:29936235, PMID:30351409 NCBI chr 2:50,099,576...50,499,799
Ensembl chr 2:50,099,576...50,499,799
JBrowse link
generalized epilepsy with febrile seizures plus 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO DNA:missense mutations:cds:p.T875M, p.R1648H (human)
ClinVar Annotator: match by term: GEFS+, TYPE 2
ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 2
ClinVar Annotator: match by OMIM:604403
ClinVar
OMIM
PMID:9126059, PMID:10486327, PMID:10521305, PMID:10742094, PMID:11118488, PMID:11254444, PMID:11254445, PMID:11359211, PMID:11524484, PMID:11567038, PMID:11756608, PMID:12083760, PMID:12086636, PMID:12566275, PMID:12576172, PMID:12610651, PMID:12754708, PMID:12821740, PMID:14504318, PMID:14702334, PMID:14738421, PMID:15277629, PMID:15508915, PMID:15508916, PMID:15880351, PMID:16075041, PMID:16326807, PMID:16430863, PMID:16458823, PMID:16505326, PMID:16541393, PMID:16713913, PMID:16713920, PMID:17054684, PMID:17166794, PMID:17347258, PMID:17561957, PMID:17903680, PMID:18021921, PMID:18056581, PMID:18413471, PMID:18414213, PMID:18804930, PMID:18930999, PMID:19236456, PMID:19359143, PMID:19400878, PMID:19522081, PMID:19589774, PMID:19673951, PMID:20100831, PMID:20301494, PMID:20431604, PMID:20522430, PMID:20550552, PMID:20729507, PMID:20831750, PMID:20879882, PMID:21248271, PMID:21269283, PMID:21371021, PMID:21396429, PMID:21463290, PMID:21713554, PMID:21864321, PMID:22011963, PMID:22071555, PMID:22150645, PMID:22151702, PMID:22409937, PMID:22550089, PMID:22612257, PMID:22719002, PMID:22780858, PMID:22848613, PMID:23195492, PMID:23398550, PMID:23398611, PMID:23527921, PMID:23808377, PMID:23884151, PMID:23934111, PMID:24066114, PMID:24097157, PMID:24136861, PMID:24168886, PMID:24328833, PMID:24337656, PMID:24464349, PMID:24836964, PMID:25348405, PMID:25378155, PMID:25741868, PMID:26096185, PMID:26188943, PMID:26467025, PMID:26845707, PMID:26990884, PMID:27236449, PMID:27267376, PMID:27465585, PMID:27781031, PMID:27864847, PMID:28148630, PMID:28192756, PMID:28492532, PMID:29100083, PMID:29358611, PMID:29760947, PMID:30311386, PMID:30525188, PMID:30619928, PMID:30659983, PMID:32238909, PMID:32581362, PMID:10742094 RGD:727292 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
JBrowse link
generalized epilepsy with febrile seizures plus 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 7
ClinVar Annotator: match by term: GEFS+, TYPE 7
ClinVar Annotator: match by term: Febrile seizures, familial, 3b
OMIM
ClinVar
PMID:10514109, PMID:10852559, PMID:10852560, PMID:17470132, PMID:19304393, PMID:19763161, PMID:22604722, PMID:23129781, PMID:25250524, PMID:25741868, PMID:26467025, PMID:27504264, PMID:28492532, PMID:29176367, PMID:30642272 NCBI chr 3:52,583,953...52,664,209
Ensembl chr 3:52,583,951...52,664,209
JBrowse link
generalized epilepsy with febrile seizures plus 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stx1b syntaxin 1B ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 ClinVar
OMIM
PMID:11591834, PMID:18479394, PMID:25362483, PMID:25741868, PMID:26467025, PMID:26818399, PMID:28492532, PMID:30737342 NCBI chr 1:199,251,842...199,270,465
Ensembl chr 1:199,251,844...199,270,627
JBrowse link
G Stx4 syntaxin 4 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 ClinVar PMID:25362483, PMID:26818399, PMID:28492532 NCBI chr 1:199,287,384...199,295,606
Ensembl chr 1:199,287,710...199,294,979
JBrowse link
G Zfp668 zinc finger protein 668 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 ClinVar PMID:25362483, PMID:26818399, PMID:28492532 NCBI chr 1:199,310,935...199,321,231
Ensembl chr 1:199,310,935...199,320,727
JBrowse link
Generalized Epilepsy with Febrile Seizures Plus, Type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO ClinVar Annotator: match by term: GEFS+, TYPE 3 ClinVar PMID:23708187, PMID:25726841, PMID:25730860, PMID:27864268, PMID:28492532, PMID:29100083, PMID:29358611 NCBI chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900
JBrowse link
Generalized Epilepsy with Febrile Seizures Plus, Type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabrd gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus type 5 ClinVar PMID:15115768, PMID:16023832, PMID:16256272, PMID:16452673, PMID:17559416, PMID:23216579, PMID:26467025, PMID:28383543, PMID:28492532 NCBI chr 5:172,797,478...172,809,374
Ensembl chr 5:172,797,450...172,809,353
JBrowse link
idiopathic generalized epilepsy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabrd gamma-aminobutyric acid type A receptor subunit delta susceptibility ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized 10
ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10
ClinVar
OMIM
PMID:15115768, PMID:16023832, PMID:16256272, PMID:16452673, PMID:17559416, PMID:23216579, PMID:25741868, PMID:26467025, PMID:28383543, PMID:28492532 NCBI chr 5:172,797,478...172,809,374
Ensembl chr 5:172,797,450...172,809,353
JBrowse link
idiopathic generalized epilepsy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn2 chloride voltage-gated channel 2 susceptibility ISO ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11
ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8
ClinVar
OMIM
PMID:12612585, PMID:15252188, PMID:15505175, PMID:16932951, PMID:17567819, PMID:19191339, PMID:19710712, PMID:21703448, PMID:25741868 NCBI chr11:82,862,664...82,876,165
Ensembl chr11:83,883,879...83,897,394
JBrowse link
idiopathic generalized epilepsy 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc2a1 solute carrier family 2 member 1 susceptibility ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 12 ClinVar
OMIM
PMID:10980529, PMID:11477212, PMID:16949238, PMID:17052934, PMID:19798636, PMID:20417043, PMID:21069159, PMID:21135204, PMID:21555602, PMID:22282645, PMID:23280796, PMID:23340081, PMID:23448551, PMID:25487684, PMID:25741868, PMID:25982116, PMID:28492532, PMID:28717674 NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
JBrowse link
idiopathic generalized epilepsy 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 susceptibility ISO ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 ClinVar
OMIM
PMID:9126483, PMID:11992121, PMID:16530959, PMID:16569738, PMID:16718694, PMID:18414213, PMID:18534981, PMID:20551311, PMID:21714819, PMID:22190369, PMID:23934111, PMID:24623842, PMID:24811917, PMID:25741868, PMID:26467025, PMID:26918889, PMID:27521439, PMID:28251550, PMID:28492532 NCBI chr10:27,310,718...27,371,802
Ensembl chr10:27,310,725...27,366,665
JBrowse link
idiopathic generalized epilepsy 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc12a5 solute carrier family 12 member 5 susceptibility ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 14 ClinVar
OMIM
PMID:24668262, PMID:24928908, PMID:25741868, PMID:27535533, PMID:28492532 NCBI chr 3:161,433,303...161,465,078
Ensembl chr 3:161,425,988...161,462,879
JBrowse link
idiopathic generalized epilepsy 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rorb RAR-related orphan receptor B susceptibility ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 15 ClinVar
OMIM
PMID:23279911, PMID:25356972, PMID:25741868, PMID:25950944, PMID:27352968 NCBI chr 1:234,252,757...234,442,597
Ensembl chr 1:234,252,757...234,435,839
JBrowse link
Idiopathic Generalized Epilepsy 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 susceptibility ISO OMIM NCBI chr15:344,204...1,048,849
Ensembl chr15:344,360...1,047,956
JBrowse link
idiopathic generalized epilepsy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized 7 ClinVar PMID:25326635, PMID:25741868 NCBI chr 1:123,897,341...124,039,263
Ensembl chr 1:123,899,657...124,039,196
JBrowse link
idiopathic generalized epilepsy 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium-sensing receptor susceptibility ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized 8 ClinVar
OMIM
PMID:18756473, PMID:20798521, PMID:28492532 NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
JBrowse link
idiopathic generalized epilepsy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 susceptibility ISO ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6
ClinVar Annotator: match by term: Epilepsy, idiopathic generalized 9
ClinVar
OMIM
PMID:10762541, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 3:37,950,846...38,211,478
Ensembl chr 3:37,955,069...38,090,526
JBrowse link
infantile or early childhood epileptic encephalopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp3ca protein phosphatase 3 catalytic subunit alpha ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1
ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood 1
ClinVar
OMIM
PMID:3029762, PMID:8052858, PMID:10473536, PMID:10627609, PMID:11461966, PMID:15800199, PMID:20700442, PMID:22015374, PMID:24140049, PMID:25245802, PMID:25262651, PMID:25741868, PMID:27597899, PMID:28942967, PMID:29432562, PMID:32238909 NCBI chr 2:241,909,332...242,186,861
Ensembl chr 2:241,909,832...242,184,854
JBrowse link
infantile or early childhood epileptic encephalopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabrb2 gamma-aminobutyric acid type A receptor subunit beta 2 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2
ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood 2
ClinVar
OMIM
PMID:25124326, PMID:25741868, PMID:27789573, PMID:28492532, PMID:29100083 NCBI chr10:27,973,694...28,193,072
Ensembl chr10:27,973,681...28,187,565
JBrowse link
Infantile or Early Childhood Epileptic Encephalopathy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1a ATPase H+ transporting V1 subunit A ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3 ClinVar
OMIM
PMID:25741868, PMID:29668857 NCBI chr11:61,531,386...61,584,634
Ensembl chr11:61,531,416...61,584,634
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            epilepsy 1528
              Generalized Epilepsy 295
                idiopathic generalized epilepsy 167
                  Idiopathic Generalized Epilepsy 16 1
                  childhood onset epileptic encephalopathy + 43
                  generalized epilepsy with febrile seizures plus + 9
                  idiopathic generalized epilepsy 10 + 1
                  idiopathic generalized epilepsy 11 1
                  idiopathic generalized epilepsy 12 1
                  idiopathic generalized epilepsy 13 1
                  idiopathic generalized epilepsy 14 1
                  idiopathic generalized epilepsy 15 1
                  idiopathic generalized epilepsy 2 0
                  idiopathic generalized epilepsy 3 0
                  idiopathic generalized epilepsy 4 0
                  idiopathic generalized epilepsy 5 0
                  idiopathic generalized epilepsy 7 1
                  idiopathic generalized epilepsy 8 1
                  idiopathic generalized epilepsy 9 1
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.