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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:childhood electroclinical syndrome
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Accession:DOID:0050704 term browser browse the term
Definition:An electroclinical syndrome with onset in childhood between one and 12 years of age. (DO)
Synonyms:primary_id: RDO:9002463
 alt_id: RDO:9002706
For additional species annotation, visit the Alliance of Genome Resources.


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benign epilepsy with centrotemporal spikes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asah1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:26467025, PMID:29358611 NCBI chrNW_004955552:1,623,263...1,660,285
Ensembl chrNW_004955552:1,623,738...1,659,086
JBrowse link
G Chd2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868, PMID:28492532, PMID:29358611 NCBI chrNW_004955416:21,085,570...21,210,321 JBrowse link
G Cntnap2 contactin associated protein 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:18179895, PMID:22872700, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29358611, PMID:29788201 NCBI chrNW_004955491:1,983,002...3,982,510
Ensembl chrNW_004955491:1,984,050...3,981,830
JBrowse link
G Cpa6 carboxypeptidase A6 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:21922598, PMID:23105115, PMID:25741868, PMID:26467025, PMID:26648591, PMID:28492532, PMID:28761347, PMID:29358611, PMID:32581362 NCBI chrNW_004955444:11,624,842...11,922,293
Ensembl chrNW_004955444:11,624,806...11,921,509
JBrowse link
G Cstb cystatin B ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:8596935, PMID:9054946, PMID:15329070, PMID:15483648, PMID:16155205, PMID:18028412, PMID:18925453, PMID:20078424, PMID:21757863, PMID:22936898, PMID:25741868, PMID:26843564, PMID:29358611 NCBI chrNW_004955407:41,475,533...41,478,943
Ensembl chrNW_004955407:41,475,533...41,479,150
JBrowse link
G Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:24591017, PMID:25366275, PMID:25741868, PMID:26505888, PMID:28492532, PMID:29358611 NCBI chrNW_004955455:5,881,631...6,005,514 JBrowse link
G Epm2a EPM2A glucan phosphatase, laforin ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chrNW_004955436:14,925,452...14,982,357
Ensembl chrNW_004955436:14,926,123...14,983,180
JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor gamma2 subunit ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:23708187, PMID:25726841, PMID:25730860, PMID:27864268, PMID:28492532, PMID:29100083, PMID:29358611 NCBI chrNW_004955408:15,766,161...15,857,121
Ensembl chrNW_004955408:15,765,984...15,857,244
JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chrNW_004955513:5,154,864...5,178,636
Ensembl chrNW_004955513:5,154,864...5,178,636
JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Rolandic epilepsy
CTD
ClinVar
PMID:7574460, PMID:18414213, PMID:23933818, PMID:23933819, PMID:23933820, PMID:25726841, PMID:25904555, PMID:26467025, PMID:26601054, PMID:27288002, PMID:28102150, PMID:28492532, PMID:29358611, PMID:30311386 NCBI chrNW_004955442:8,171,114...8,565,187
Ensembl chrNW_004955442:8,174,232...8,562,059
JBrowse link
G Ier3ip1 immediate early response 3 interacting protein 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chrNW_004955402:32,532,692...32,550,638 JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Benign Rolandic epilepsy ClinVar PMID:18625963 NCBI chrNW_004955528:737,416...792,885
Ensembl chrNW_004955528:737,416...791,321
JBrowse link
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:18625963, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29358611 NCBI chrNW_004955461:6,793,877...7,119,859
Ensembl chrNW_004955461:6,797,018...7,119,569
JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868, PMID:26467025, PMID:28492532, PMID:29358611 NCBI chrNW_004955513:4,712,772...4,765,657
Ensembl chrNW_004955513:4,712,516...4,765,657
JBrowse link
G Maf MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532, PMID:29358611 NCBI chrNW_004955522:2,514,313...2,519,694 JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:18414213, PMID:19214208, PMID:19752159, PMID:20713952, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29358611 NCBI chrNW_004955503:6,428,894...6,567,253
Ensembl chrNW_004955503:6,434,047...6,567,253
JBrowse link
G Plcb1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chrNW_004955415:18,210,608...18,915,099
Ensembl chrNW_004955415:18,210,662...18,915,158
JBrowse link
G Prickle1 prickle planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:21901791, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29358611 NCBI chrNW_004955500:1,897,899...1,990,791
Ensembl chrNW_004955500:1,897,912...1,990,875
JBrowse link
G Prickle2 prickle planar cell polarity protein 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532, PMID:29358611 NCBI chrNW_004955517:1,501,322...1,806,996
Ensembl chrNW_004955517:1,501,706...1,802,169
JBrowse link
G Rbfox1 RNA binding fox-1 homolog 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:26467025, PMID:28346479, PMID:28492532, PMID:29358611 NCBI chrNW_004955442:10,345,261...10,694,602
Ensembl chrNW_004955442:10,344,365...10,908,434
JBrowse link
G Rbfox3 RNA binding fox-1 homolog 3 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chrNW_004955506:3,243,637...3,646,789
Ensembl chrNW_004955506:3,624,378...3,646,789
JBrowse link
G Reln reelin ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:14515139, PMID:14593429, PMID:24828792, PMID:25620207, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29358611, PMID:30311386 NCBI chrNW_004955410:8,424,439...8,863,966
Ensembl chrNW_004955410:8,424,394...8,863,969
JBrowse link
G Scarb2 scavenger receptor class B member 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868, PMID:28492532, PMID:29358611 NCBI chrNW_004955433:884,740...962,932
Ensembl chrNW_004955433:884,740...962,932
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:11254445, PMID:12610651, PMID:18021921, PMID:19200853, PMID:19522081, PMID:21396429, PMID:22550089, PMID:22780858, PMID:23195492, PMID:23398611, PMID:25741868, PMID:26990884, PMID:28492532, PMID:29358611, PMID:30311386 NCBI chrNW_004955449:8,072,910...8,220,763
Ensembl chrNW_004955449:8,160,986...8,221,951
JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chrNW_004955468:4,375,517...4,383,383
Ensembl chrNW_004955468:4,375,157...4,383,502
JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868, PMID:28492532, PMID:29358611 NCBI chrNW_004955449:8,722,043...8,846,165
Ensembl chrNW_004955449:8,721,784...8,846,200
JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:18414213, PMID:20478850, PMID:24776970, PMID:24848745, PMID:25250524, PMID:25741868, PMID:28492532, PMID:29358611, PMID:30311386 NCBI chrNW_004955449:7,858,156...8,017,569
Ensembl chrNW_004955449:7,923,801...8,017,569
JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chrNW_004955537:2,408,042...2,438,788
Ensembl chrNW_004955537:2,408,042...2,439,511
JBrowse link
G Slc6a1 solute carrier family 6 member 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chrNW_004955429:13,930,899...13,946,010
Ensembl chrNW_004955429:13,930,905...13,947,389
JBrowse link
G Snip1 Smad nuclear interacting protein 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chrNW_004955452:15,352,080...15,365,545
Ensembl chrNW_004955452:15,353,182...15,365,459
JBrowse link
G Sptan1 spectrin alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25224718, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29358611 NCBI chrNW_004955570:1,016,510...1,076,499
Ensembl chrNW_004955570:1,016,510...1,076,499
JBrowse link
G Strada STE20 related adaptor alpha ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chrNW_004955478:8,082,075...8,116,320
Ensembl chrNW_004955478:8,082,075...8,116,543
JBrowse link
G Szt2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532, PMID:29358611, PMID:30311386 NCBI chrNW_004955537:2,968,839...3,017,863
Ensembl chrNW_004955537:2,968,839...3,017,863
JBrowse link
G Tbc1d24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:24033266, PMID:26467025, PMID:28492532, PMID:29358611 NCBI chrNW_004955442:14,816,213...14,823,132 JBrowse link
G Wwox WW domain containing oxidoreductase ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868, PMID:26467025, PMID:28492532, PMID:29358611 NCBI chrNW_004955522:1,265,732...2,185,372
Ensembl chrNW_004955522:1,265,404...2,184,562
JBrowse link
childhood absence epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:752T>A (p.M251K)(rat)
CTD
RGD
PMID:17196942 RGD:1598976 NCBI chrNW_004955415:32,182,536...32,457,511
Ensembl chrNW_004955415:32,183,442...32,400,595
JBrowse link
G Cacna1h calcium voltage-gated channel subunit alpha1 H susceptibility ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 6
ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 6
ClinVar Annotator: match by term: CACNA1H-related disorder
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
RGD
PMID:12891677, PMID:14729682, PMID:15048902, PMID:15852375, PMID:15888660, PMID:17696120, PMID:25741868, PMID:26467025, PMID:28492532 RGD:1358447 NCBI chrNW_004955442:16,047,965...16,108,862
Ensembl chrNW_004955442:16,045,895...16,108,862
JBrowse link
G Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14660671 NCBI chrNW_004955532:2,163,529...2,283,509
Ensembl chrNW_004955532:2,163,529...2,283,508
JBrowse link
G Cacng2 calcium voltage-gated channel auxiliary subunit gamma 2 ISO mRNA,protein:increased expression:somatosensory cortex, primary motor cortex RGD PMID:18556211 RGD:13524553 NCBI chrNW_004955413:23,136,369...23,248,231
Ensembl chrNW_004955413:23,132,896...23,248,231
JBrowse link
G Cacng3 calcium voltage-gated channel auxiliary subunit gamma 3 ISO RGD PMID:11904235 RGD:728397 NCBI chrNW_004955493:2,742,096...2,841,353
Ensembl chrNW_004955493:2,742,096...2,841,403
JBrowse link
G Efhc1 EF-hand domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955411:5,624,510...5,676,165
Ensembl chrNW_004955411:5,624,053...5,677,534
JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor alpha1 subunit ISO ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 4 ClinVar PMID:9126483, PMID:11992121, PMID:16530959, PMID:16569738, PMID:16718694, 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 chrNW_004955408:15,608,984...15,662,309
Ensembl chrNW_004955408:15,608,984...15,662,597
JBrowse link
G Gabra6 gamma-aminobutyric acid type A receptor alpha6 subunit ISO ClinVar Annotator: match by term: Childhood absence epilepsy ClinVar PMID:28492532 NCBI chrNW_004955408:15,464,426...15,479,653
Ensembl chrNW_004955408:15,464,368...15,480,330
JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor beta3 subunit susceptibility ISO ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
CTD Direct Evidence: marker/mechanism
DNA:SNPs
OMIM
ClinVar
CTD
RGD
PMID:16835263, PMID:18514161, PMID:19935738, PMID:20550555, PMID:24088041, PMID:25726841, PMID:25741868, PMID:26467025, PMID:26633545, PMID:26845707, PMID:26950270, PMID:28492532 RGD:1601269 NCBI chrNW_004955533:2,879,437...2,938,952
Ensembl chrNW_004955533:2,573,599...2,938,952
JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor gamma2 subunit ISO DNA:snp:intron:IVS6+2T>G (human) RGD PMID:12117362 RGD:1358631 NCBI chrNW_004955408:15,766,161...15,857,121
Ensembl chrNW_004955408:15,765,984...15,857,244
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO protein:increased expression:thalamus RGD PMID:10975907 RGD:6484590 NCBI chrNW_004955510:5,987,811...6,021,001 JBrowse link
G Grik1 glutamate ionotropic receptor kainate type subunit 1 ISO RGD PMID:9259378 RGD:1358334 NCBI chrNW_004955407:28,899,643...29,308,936
Ensembl chrNW_004955407:28,899,899...29,308,470
JBrowse link
G Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO RGD PMID:15182313 RGD:9686420 NCBI chrNW_004955446:17,146,915...17,457,843
Ensembl chrNW_004955446:17,151,311...17,457,888
JBrowse link
G Htr7 5-hydroxytryptamine receptor 7 ISO RGD PMID:15050708 RGD:6480686 NCBI chrNW_004955425:2,321,420...2,420,420
Ensembl chrNW_004955425:2,321,420...2,420,530
JBrowse link
G Jrk Jrk helix-turn-helix protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11463517 NCBI chrNW_004955454:1,415,811...1,423,705
Ensembl chrNW_004955454:1,415,811...1,423,705
JBrowse link
G Kcnk9 potassium two pore domain channel subfamily K member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15781965 NCBI chrNW_004955461:13,406,969...13,476,720
Ensembl chrNW_004955461:13,412,436...13,476,803
JBrowse link
G Lgi4 leucine rich repeat LGI family member 4 ISO DNA:point mutation: :c.1914G>A (human) RGD PMID:14505228 RGD:1302591 NCBI chrNW_004955468:4,441,808...4,456,884
Ensembl chrNW_004955468:4,445,155...4,453,610
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:20303372 RGD:8547934 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
JBrowse link
G Npy neuropeptide Y treatment ISO RGD PMID:17331209, PMID:24039965 RGD:10448963, RGD:10448964 NCBI chrNW_004955410:26,348,388...26,355,232
Ensembl chrNW_004955410:26,348,504...26,355,297
JBrowse link
G Npy1r neuropeptide Y receptor Y1 treatment ISO RGD PMID:17331209 RGD:10448963 NCBI chrNW_004955403:41,681,834...41,693,094
Ensembl chrNW_004955403:41,681,728...41,694,020
JBrowse link
G Npy2r neuropeptide Y receptor Y2 treatment ISO RGD PMID:17331209 RGD:10448963 NCBI chrNW_004955471:11,796,278...11,804,114
Ensembl chrNW_004955471:11,796,278...11,804,114
JBrowse link
G Npy5r neuropeptide Y receptor Y5 treatment ISO RGD PMID:17331209 RGD:10448963 NCBI chrNW_004955403:41,667,632...41,675,619
Ensembl chrNW_004955403:41,667,632...41,675,619
JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Childhood absence epilepsy ClinVar PMID:25741868, PMID:28492532 NCBI chrNW_004955468:4,375,517...4,383,383
Ensembl chrNW_004955468:4,375,157...4,383,502
JBrowse link
G Slc2a1 solute carrier family 2 member 1 onset ISO DNA:deletion, missense mutations, SNP:multiple RGD PMID:26537434 RGD:11058811 NCBI chrNW_004955537:2,408,042...2,438,788
Ensembl chrNW_004955537:2,408,042...2,439,511
JBrowse link
G Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta ISO protein:increased expression:parietal lobe RGD PMID:21310218 RGD:9587483 NCBI chrNW_004955417:16,047,263...16,070,506
Ensembl chrNW_004955417:16,047,263...16,072,854
JBrowse link
Childhood Absence Epilepsy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp10a ATPase phospholipid transporting 10A (putative) ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 1 ClinVar PMID:11198279, PMID:28492532 NCBI chrNW_004955533:3,413,607...3,533,834
Ensembl chrNW_004955533:3,413,607...3,533,834
JBrowse link
G Gabra5 gamma-aminobutyric acid type A receptor alpha5 subunit ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 1 ClinVar PMID:11198279, PMID:28492532 NCBI chrNW_004955533:2,563,499...2,631,086
Ensembl chrNW_004955533:2,563,319...2,631,289
JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor beta3 subunit ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 1
ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 1
ClinVar PMID:2828157, PMID:11198279, PMID:11742254, PMID:12189488, PMID:18514161, PMID:19935738, PMID:20550555, PMID:23495136, PMID:23934111, PMID:24999380, PMID:25533962, PMID:25726841, PMID:25741868, PMID:26068938, PMID:26467025, PMID:26645412, PMID:26704558, PMID:26845707, PMID:26950270, PMID:26993267, PMID:27476654, PMID:27622563, PMID:28053010, PMID:28281572, PMID:28492532, PMID:28544625, PMID:28607477, PMID:29961870 NCBI chrNW_004955533:2,879,437...2,938,952
Ensembl chrNW_004955533:2,573,599...2,938,952
JBrowse link
G Rorb RAR related orphan receptor B ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 1 ClinVar PMID:25950944 NCBI chrNW_004955512:4,362,287...4,541,432
Ensembl chrNW_004955512:4,362,287...4,541,445
JBrowse link
Childhood Absence Epilepsy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabrg2 gamma-aminobutyric acid type A receptor gamma2 subunit ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 2
ClinVar Annotator: match by term: GABRG2-Related Disorder
ClinVar PMID:11326274, PMID:11326275, PMID:11748509, PMID:12097483, PMID:12117362, PMID:12477709, PMID:15342642, PMID:15470132, PMID:15866052, PMID:16510738, PMID:16924025, PMID:17148443, PMID:18094250, PMID:18414213, PMID:18566737, PMID:20485450, PMID:20551311, PMID:21425109, PMID:22190369, PMID:22539854, PMID:22750526, PMID:23708187, PMID:23720301, PMID:23935098, PMID:24407264, PMID:24480790, PMID:24630281, PMID:24811917, PMID:25726841, PMID:25730860, PMID:25731747, PMID:25741868, PMID:26467025, PMID:27066572, PMID:27334371, PMID:27340224, PMID:27367160, PMID:27864268, PMID:27899622, PMID:28460589, PMID:28492532, PMID:29100083, PMID:29358611, PMID:29778030 NCBI chrNW_004955408:15,766,161...15,857,121
Ensembl chrNW_004955408:15,765,984...15,857,244
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 Annotator: match by term: EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 2
OMIM
ClinVar
PMID:12612585, PMID:15252188, PMID:15505175, PMID:16932951, PMID:17567819, PMID:19191339, PMID:19710712, PMID:21703448, PMID:25741868 NCBI chrNW_004955420:23,138,558...23,152,462
Ensembl chrNW_004955420:23,138,605...23,152,311
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 alpha1 subunit susceptibility ISO ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13
ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5
OMIM
ClinVar
PMID: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 chrNW_004955408:15,608,984...15,662,309
Ensembl chrNW_004955408:15,608,984...15,662,597
JBrowse link
juvenile absence epilepsy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Efhc1 EF-hand domain containing 1 susceptibility ISO ClinVar Annotator: match by term: Epilepsy, juvenile absence, susceptibility to, 1 OMIM
ClinVar
PMID:17159113, PMID:18414213, PMID:25741868, PMID:28492532 NCBI chrNW_004955411:5,624,510...5,676,165
Ensembl chrNW_004955411:5,624,053...5,677,534
JBrowse link
Landau-Kleffner syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: APHASIA, ACQUIRED, WITH EPILEPSY
ClinVar Annotator: match by term: Acquired epileptiform aphasia
CTD
ClinVar
PMID:9526012, PMID:10996561, PMID:18414213, PMID:18718967, PMID:19286491, PMID:19292755, PMID:20384727, PMID:20890276, PMID:21499247, PMID:21507155, PMID:22833210, PMID:23033978, PMID:23294109, PMID:23408766, PMID:23933818, PMID:23933819, PMID:23933820, PMID:23940648, PMID:24455489, PMID:24463507, PMID:24504326, PMID:24903190, PMID:25164438, PMID:25596506, PMID:25726841, PMID:25741868, PMID:25904555, PMID:26220384, PMID:26283219, PMID:26467025, PMID:26601054, PMID:26648591, PMID:27171548, PMID:27288002, PMID:27640074, PMID:27839871, PMID:28492532, PMID:28936771, PMID:29124671, PMID:29358611 NCBI chrNW_004955442:8,171,114...8,565,187
Ensembl chrNW_004955442:8,174,232...8,562,059
JBrowse link
Lennox-Gastaut syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabrg2 gamma-aminobutyric acid type A receptor gamma2 subunit ISO ClinVar Annotator: match by term: Lennox-Gastaut syndrome ClinVar PMID:24407264, PMID:25741868, PMID:27066572, PMID:28492532 NCBI chrNW_004955408:15,766,161...15,857,121
Ensembl chrNW_004955408:15,765,984...15,857,244
JBrowse link
G Gatm glycine amidinotransferase ISO ClinVar Annotator: match by term: Lennox-Gastaut syndrome ClinVar NCBI chrNW_004955409:8,068,524...8,084,603
Ensembl chrNW_004955409:8,068,476...8,084,603
JBrowse link
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 ISO ClinVar Annotator: match by term: Lennox-Gastaut syndrome ClinVar PMID:23020937, PMID:23934111, PMID:25740509, PMID:25741868, PMID:26350515, PMID:28135719, PMID:28492532, PMID:28628100, PMID:29655203, PMID:30311386, PMID:30578330 NCBI chrNW_004955461:6,793,877...7,119,859
Ensembl chrNW_004955461:6,797,018...7,119,569
JBrowse link
G Mapk10 mitogen-activated protein kinase 10 ISO ClinVar Annotator: match by term: Epileptic encephalopathy Lennox-Gastaut type ClinVar PMID:16249883 NCBI chrNW_004955474:3,451,656...3,772,405
Ensembl chrNW_004955474:3,624,679...3,772,458
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Lennox-Gastaut syndrome ClinVar PMID:15181170, PMID:15351195, PMID:16401742, PMID:19578034, PMID:19752458, PMID:21880868, PMID:22647225, PMID:23426270, PMID:23811324, PMID:24122062, PMID:24259288, PMID:24331360, PMID:24508722, PMID:25741868, PMID:26467025, PMID:28284481, PMID:28492532, PMID:29029963, PMID:30255931, PMID:30373890 NCBI chrNW_004955416:15,773,005...15,788,736
Ensembl chrNW_004955416:15,773,473...15,788,651
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy Lennox-Gastaut type ClinVar PMID:9126059, PMID:10742094, PMID:11359211, PMID:15508915, PMID:15880351, PMID:16430863, PMID:17347258, PMID:17561957, PMID:18413471, PMID:18804930, PMID:18930999, PMID:19400878, PMID:19589774, PMID:20879882, PMID:21248271, PMID:21269283, PMID:21463290, PMID:22409937, PMID:22719002, PMID:24097157, PMID:24836964, PMID:25348405, PMID:26633542, PMID:28492532 NCBI chrNW_004955449:8,072,910...8,220,763
Ensembl chrNW_004955449:8,160,986...8,221,951
JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Lennox-Gastaut syndrome ClinVar PMID:28492532 NCBI chrNW_004955440:10,755,658...10,881,044
Ensembl chrNW_004955440:10,756,014...10,795,491
JBrowse link
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant ClinVar PMID:9526012, PMID:10996561, PMID:18414213, PMID:18718967, PMID:19286491, PMID:19292755, PMID:20384727, PMID:20890276, PMID:21499247, PMID:21507155, PMID:22833210, PMID:23033978, PMID:23294109, PMID:23408766, PMID:23933818, PMID:23933819, PMID:23933820, PMID:23940648, PMID:24455489, PMID:24463507, PMID:24504326, PMID:24903190, PMID:25164438, PMID:25596506, PMID:25726841, PMID:25741868, PMID:25904555, PMID:26220384, PMID:26283219, PMID:26467025, PMID:26601054, PMID:26648591, PMID:27171548, PMID:27288002, PMID:27640074, PMID:27839871, PMID:28492532, PMID:28936771, PMID:29124671, PMID:29358611 NCBI chrNW_004955442:8,171,114...8,565,187
Ensembl chrNW_004955442:8,174,232...8,562,059
JBrowse link
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srpx2 sushi repeat containing protein X-linked 2 ISO OMIM NCBI chrNW_004955503:6,795,793...6,817,779
Ensembl chrNW_004955503:6,795,734...6,821,119
JBrowse link
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d24 TBC1 domain family member 24 ISO OMIM NCBI chrNW_004955442:14,816,213...14,823,132 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11814
    syndrome 5769
      electroclinical syndrome 370
        absence epilepsy 97
          childhood electroclinical syndrome 66
            Landau-Kleffner syndrome 1
            Lennox-Gastaut syndrome 7
            benign epilepsy with centrotemporal spikes + 36
            childhood absence epilepsy + 29
            early onset absence epilepsy 0
Path 2
Term Annotations click to browse term
  disease 11814
    disease of anatomical entity 11367
      nervous system disease 9307
        central nervous system disease 7883
          brain disease 7289
            epilepsy 1411
              electroclinical syndrome 370
                absence epilepsy 97
                  childhood electroclinical syndrome 66
                    Landau-Kleffner syndrome 1
                    Lennox-Gastaut syndrome 7
                    benign epilepsy with centrotemporal spikes + 36
                    childhood absence epilepsy + 29
                    early onset absence epilepsy 0
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.