Send us a Message



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

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:absence epilepsy
go back to main search page
Accession:DOID:0070309 term browser browse the term
Definition:An electroclinical syndrome characterized by the occurrence of generalized onset seizures that cause lapses in awareness, begin and end abruptly, typically last only a few seconds and are associated with abnormal spike-wave discharges as seen by electroencephalogram. (DO)
Synonyms:exact_synonym: Absence Seizure Disorder;   Absence Seizure Disorders;   absence epilepsies;   absence seizure;   absence seizures
For additional species annotation, visit the Alliance of Genome Resources.


GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
 
absence epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dip2b disco interacting protein 2 homolog B ISO ClinVar Annotator: match by term: Absence seizure ClinVar PMID:25741868 NCBI chrNW_004936512:8,131,304...8,370,519 JBrowse link
G Efhc1 EF-hand domain containing 1 ISO ClinVar Annotator: match by term: Epilepsy, Absence ClinVar PMID:12439895 PMID:15258581 PMID:17159113 PMID:17634063 PMID:18414213 More... NCBI chrNW_004936476:8,347,907...8,401,224 JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Absence seizure ClinVar PMID:11254445 PMID:18021921 PMID:21396429 PMID:22550089 PMID:22780858 More... NCBI chrNW_004936469:13,194,769...13,345,979 JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Absence seizure ClinVar PMID:25741868 NCBI chrNW_004936469:13,063,971...13,153,030 JBrowse link
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:25741868 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chrNW_004936554:104,666...141,761 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_004936483:9,803,887...9,931,132 JBrowse link
G Cntnap2 contactin associated protein 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chrNW_004936527:2,859,442...4,748,885 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 More... NCBI chrNW_004936496:6,484,438...6,761,816 JBrowse link
G Cstb cystatin B ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:8596935 PMID:9054946 PMID:9342192 PMID:15329070 PMID:15483648 More... NCBI chrNW_004936500:502,444...503,307 JBrowse link
G Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:24591017 PMID:25741868 PMID:26505888 PMID:28492532 PMID:29358611 NCBI chrNW_004936755:871,935...1,024,538 JBrowse link
G Epm2a EPM2A glucan phosphatase, laforin ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chrNW_004936625:761,013...819,826 JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:23708187 PMID:25726841 PMID:25730860 PMID:27864268 PMID:28492532 More... NCBI chrNW_004936515:1,609,370...1,670,412 JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chrNW_004936669:814,330...838,881 JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:7574460 PMID:16199547 PMID:18414213 PMID:23933818 PMID:23933819 More... NCBI chrNW_004936530:8,286,101...8,612,183 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_004936514:10,735,247...10,787,682 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_004936470:16,712,508...17,009,648 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_004936669:1,834,879...1,867,572 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 More... NCBI chrNW_004936584:5,568,740...5,668,095 JBrowse link
G Plcb1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chrNW_004936485:10,548,966...11,254,139 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_004936512:1,165,159...1,270,138 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_004936637:2,225,400...2,299,307 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_004936530:5,259,612...6,843,668 JBrowse link
G Rbfox3 RNA binding fox-1 homolog 3 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chrNW_004936594:3,393,675...3,744,755 JBrowse link
G Reln reelin ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:14515139 PMID:14593429 PMID:20697953 PMID:24828792 PMID:25620207 More... NCBI chrNW_004936479:19,628,488...20,088,278 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_004936676:167,482...225,827 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 More... NCBI chrNW_004936469:13,194,769...13,345,979 JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:28492532 PMID:29358611 NCBI chrNW_004936570:1,187,916...1,195,423 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_004936469:13,872,701...14,019,170 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 More... NCBI chrNW_004936469:13,063,971...13,153,030 JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chrNW_004936474:24,205,878...24,236,611 JBrowse link
G Slc6a1 solute carrier family 6 member 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532 PMID:29358611 NCBI chrNW_004936602:2,359,151...2,397,346 JBrowse link
G Snip1 Smad nuclear interacting protein 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532 PMID:29358611 NCBI chrNW_004936474:19,760,653...19,778,224 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_004936487:16,071,043...16,142,662 JBrowse link
G Strada STE20 related adaptor alpha ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532 PMID:29358611 NCBI chrNW_004936541:4,352,613...4,385,499 JBrowse link
G Szt2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:28492532 PMID:29358611 NCBI chrNW_004936474:24,788,175...24,837,471 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_004936694:1,556,717...1,582,019 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_004936475:26,342,245...27,209,563 JBrowse link
childhood absence epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1h calcium voltage-gated channel subunit alpha1 H susceptibility ISO ClinVar Annotator: match by term: CACNA1H-related disorder | ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Epilepsy, childhood absence 6 | ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 6 OMIM
ClinVar
PMID:12891677 PMID:14729682 PMID:15048902 PMID:15852375 PMID:15888660 More... NCBI chrNW_004936694:2,702,224...2,724,574 JBrowse link
G Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14660671 NCBI chrNW_004936529:1,889,811...2,023,710 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_004936492:4,125,182...4,232,239 JBrowse link
G Cacng3 calcium voltage-gated channel auxiliary subunit gamma 3 ISO RGD PMID:11904235 RGD:728397 NCBI chrNW_004936501:8,762,386...8,840,123 JBrowse link
G Efhc1 EF-hand domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936476:8,347,907...8,401,224 JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha1 ISO ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 4 ClinVar PMID:16718694 NCBI chrNW_004936515:1,806,721...1,859,227 JBrowse link
G Gabra6 gamma-aminobutyric acid type A receptor subunit alpha6 ISO ClinVar Annotator: match by term: Childhood absence epilepsy ClinVar PMID:28492532 NCBI chrNW_004936515:1,982,415...1,997,740 JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta3 susceptibility ISO ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 5 OMIM
ClinVar
PMID:18514161 PMID:19935738 PMID:20550555 PMID:24088041 PMID:25726841 More... NCBI chrNW_004936471:39,791,633...40,193,049 JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma2 ISO DNA:snp:intron:IVS6+2T>G (human) RGD PMID:12117362 RGD:1358631 NCBI chrNW_004936515:1,609,370...1,670,412 JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO protein:increased expression:thalamus RGD PMID:10975907 RGD:6484590 NCBI chrNW_004936601:5,415,857...5,435,964 JBrowse link
G Grik1 glutamate ionotropic receptor kainate type subunit 1 ISO RGD PMID:9259378 RGD:1358334 NCBI chrNW_004936500:12,157,215...12,536,555 JBrowse link
G Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO RGD PMID:15182313 RGD:9686420 NCBI chrNW_004936480:17,051,902...17,416,335 JBrowse link
G Htr7 5-hydroxytryptamine receptor 7 ISO RGD PMID:15050708 RGD:6480686 NCBI chrNW_004936601:3,569,626...3,626,782 JBrowse link
G Jrk Jrk helix-turn-helix protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11463517 NCBI chrNW_004936470:9,152,417...9,155,797 JBrowse link
G Kcnk9 potassium two pore domain channel subfamily K member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15781965 NCBI chrNW_004936470:11,260,835...11,294,391 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_004936570:1,122,987...1,131,270 JBrowse link
G LOC101960999 voltage-dependent P/Q-type calcium channel subunit alpha-1A ISO DNA:mutation:cds:752T>A (p.M251K)(rat)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:17196942 RGD:1598976 NCBI chrNW_004936659:2,201,606...2,269,625 JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:20303372 RGD:8547934 NCBI chrNW_004936514:7,038,240...7,045,873 JBrowse link
G Npy neuropeptide Y treatment ISO RGD PMID:17331209 PMID:24039965 RGD:10448963 RGD:10448964 NCBI chrNW_004936478:1,289,437...1,296,819 JBrowse link
G Npy1r neuropeptide Y receptor Y1 treatment ISO RGD PMID:17331209 RGD:10448963 NCBI chrNW_004936555:2,267,727...2,276,673 JBrowse link
G Npy2r neuropeptide Y receptor Y2 treatment ISO RGD PMID:17331209 RGD:10448963 NCBI chrNW_004936576:1,932,526...1,939,560 JBrowse link
G Npy5r neuropeptide Y receptor Y5 treatment ISO RGD PMID:17331209 RGD:10448963 NCBI chrNW_004936555:2,248,699...2,252,637 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_004936570:1,187,916...1,195,423 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_004936474:24,205,878...24,236,611 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_004936470:42,444,671...42,470,548 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, susceptibility to, 1 ClinVar PMID:11198279 PMID:28492532 NCBI chrNW_004936471:40,868,114...40,976,707 JBrowse link
G Gabra5 gamma-aminobutyric acid type A receptor subunit alpha5 ISO ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 ClinVar PMID:11198279 PMID:28492532 NCBI chrNW_004936471:39,781,451...39,856,766 JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta3 ISO ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 ClinVar PMID:2828157 PMID:9536098 PMID:11198279 PMID:11742254 PMID:12189488 More... NCBI chrNW_004936471:39,791,633...40,193,049 JBrowse link
G Rorb RAR related orphan receptor B ISO ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 ClinVar PMID:25950944 NCBI chrNW_004936503:10,294,530...10,473,070 JBrowse link
Childhood Absence Epilepsy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma2 ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 2 | ClinVar Annotator: match by term: GABRG2-Related Disorder ClinVar PMID:9536098 PMID:11326274 PMID:11326275 PMID:11748509 PMID:12097483 More... NCBI chrNW_004936515:1,609,370...1,670,412 JBrowse link
epilepsy with generalized tonic-clonic seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15121994 NCBI chrNW_004936707:1,784,338...1,913,401 JBrowse link
G Bdnf brain derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chrNW_004936540:5,530,081...5,582,765 JBrowse link
G Cux2 cut like homeobox 2 ISO ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar NCBI chrNW_004936558:3,970,114...4,060,326 JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar PMID:25741868 PMID:27108799 PMID:32134617 NCBI chrNW_004936737:1,518,855...1,554,926 JBrowse link
G Hbegf heparin binding EGF like growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chrNW_004936531:9,332,939...9,345,039 JBrowse link
G Kcnj10 potassium inwardly rectifying channel subfamily J member 10 ISO protein:decreased expression:dorsal plus ventral thalamus, cerebral cortex, astrocyte projection RGD PMID:23603404 RGD:8662897 NCBI chrNW_004936740:555,948...589,219 JBrowse link
G Lgi1 leucine rich glioma inactivated 1 ISO RGD PMID:30813600 RGD:14995940 NCBI chrNW_004936601:1,242,022...1,275,842 JBrowse link
G Lig1 DNA ligase 1 ISO RGD PMID:30813600 RGD:14995940 NCBI chrNW_004936664:2,242,916...2,276,286 JBrowse link
G LOC101961588 cytochrome P450 2D17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16835697 NCBI chrNW_004936718:153,340...157,966 JBrowse link
G Mbd5 methyl-CpG binding domain protein 5 ISO ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936469:28,748,499...28,889,679 JBrowse link
G Nes nestin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16137769 NCBI chrNW_004936580:5,837,949...5,847,499 JBrowse link
G Ngf nerve growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chrNW_004936627:635,784...641,290 JBrowse link
G Ntf3 neurotrophin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chrNW_004936709:2,163,510...2,223,429 JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar PMID:25741868 NCBI chrNW_004936584:5,568,740...5,668,095 JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:4371370 NCBI chrNW_004936493:7,060,747...7,065,276 JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar PMID:11254445 PMID:18021921 PMID:21396429 PMID:22550089 PMID:22780858 More... NCBI chrNW_004936469:13,194,769...13,345,979 JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar PMID:25741868 NCBI chrNW_004936512:9,164,310...9,281,795 JBrowse link
G Slc25a24 solute carrier family 25 member 24 ISO ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar PMID:25741868 NCBI chrNW_004936731:173,366...224,156 JBrowse link
G Snap25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: Epilepsy with generalized tonic-clonic seizures ClinVar PMID:25741868 PMID:33299146 NCBI chrNW_004936485:9,198,744...9,279,854 JBrowse link
G Sptan1 spectrin alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936487:16,071,043...16,142,662 JBrowse link
familial adult myoclonic epilepsy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Samd12 sterile alpha motif domain containing 12 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 1 OMIM
ClinVar
NCBI chrNW_004936470:27,858,661...28,230,543 JBrowse link
familial adult myoclonic epilepsy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adra2b adrenoceptor alpha 2B ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 2 ClinVar PMID:25741868 NCBI chrNW_004936744:249,673...253,040 JBrowse link
G Stard7 StAR related lipid transfer domain containing 7 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 2 OMIM
ClinVar
NCBI chrNW_004936744:302,238...329,189 JBrowse link
familial adult myoclonic epilepsy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Marchf6 membrane associated ring-CH-type finger 6 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 3 OMIM
ClinVar
NCBI chrNW_004936643:2,455,496...2,507,185 JBrowse link
familial adult myoclonic epilepsy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Yeats2 YEATS domain containing 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 4 OMIM
ClinVar
PMID:25741868 NCBI chrNW_004936578:6,004,427...6,075,414 JBrowse link
familial adult myoclonic epilepsy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cntn2 contactin 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 OMIM
ClinVar
PMID:9536098 PMID:11178983 PMID:16199547 PMID:17576681 PMID:23518707 More... NCBI chrNW_004936557:7,297,429...7,320,666 JBrowse link
familial adult myoclonic epilepsy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnrc6a trinucleotide repeat containing adaptor 6A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 6 OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chrNW_004936501:9,016,844...9,192,946 JBrowse link
familial adult myoclonic epilepsy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rapgef2 Rap guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 7 OMIM
ClinVar
PMID:25741868 NCBI chrNW_004936576:5,583,847...5,746,583 JBrowse link
idiopathic generalized epilepsy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn2 chloride voltage-gated channel 2 susceptibility ISO ClinVar Annotator: match by term: EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 11 OMIM
ClinVar
PMID:12612585 PMID:15252188 PMID:15505175 PMID:16932951 PMID:17567819 More... NCBI chrNW_004936578:5,525,461...5,539,351 JBrowse link
idiopathic generalized epilepsy 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha1 susceptibility ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 13 OMIM
ClinVar
PMID:11992121 PMID:16530959 PMID:16569738 PMID:18414213 PMID:18534981 More... NCBI chrNW_004936515:1,806,721...1,859,227 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, susceptibility to, 7 ClinVar PMID:25326635 PMID:25741868 NCBI chrNW_004937351:32,324...46,871 JBrowse link
G Efhc1 EF-hand domain containing 1 ISO ClinVar Annotator: match by term: EIG7 ClinVar PMID:25741868 PMID:28166811 PMID:28492532 NCBI chrNW_004936476:8,347,907...8,401,224 JBrowse link
G Scn3a sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7 ClinVar PMID:25741868 NCBI chrNW_004936469:14,072,182...14,180,552 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:12439895 PMID:15258581 PMID:17159113 PMID:17634063 PMID:18414213 More... NCBI chrNW_004936476:8,347,907...8,401,224 JBrowse link
juvenile myoclonic epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brd2 bromodomain containing 2 ISO DNA:SNPs:promoter (human) RGD PMID:12830434 RGD:1358444 NCBI chrNW_004936476:25,807,179...25,818,914 JBrowse link
G Cacna1g calcium voltage-gated channel subunit alpha1 G ISO ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar NCBI chrNW_004936490:11,093,600...11,157,756 JBrowse link
G Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 ISO ClinVar Annotator: match by term: EJM1 | ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar PMID:10762541 PMID:25741868 PMID:26467025 PMID:28166811 PMID:28492532 NCBI chrNW_004936469:25,494,820...25,745,783 JBrowse link
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar PMID:28492532 NCBI chrNW_004936509:4,452,382...4,470,658 JBrowse link
G Efhc1 EF-hand domain containing 1 susceptibility ISO ClinVar Annotator: match by term: EJM1 | ClinVar Annotator: match by term: Juvenile myoclonic epilepsy | ClinVar Annotator: match by term: Myoclonic Epilepsy, Juvenile, 1 OMIM
ClinVar
PMID:8737649 PMID:9536098 PMID:12439895 PMID:15258581 PMID:16839746 More... NCBI chrNW_004936476:8,347,907...8,401,224 JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha1 ISO ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar NCBI chrNW_004936515:1,806,721...1,859,227 JBrowse link
G Jrk Jrk helix-turn-helix protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11463517 NCBI chrNW_004936470:9,152,417...9,155,797 JBrowse link
juvenile myoclonic epilepsy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cilk1 ciliogenesis associated kinase 1 susceptibility ISO OMIM NCBI chrNW_004936476:7,830,714...7,869,533 JBrowse link
Landau-Kleffner syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chrNW_004936530:7,543,743...7,621,392 JBrowse link
G Carhsp1 calcium regulated heat stable protein 1 ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chrNW_004936530:7,652,560...7,662,598 JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:7574460 PMID:9526012 PMID:9536098 PMID:10996561 PMID:16199547 More... NCBI chrNW_004936530:8,286,101...8,612,183 JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:25741868 NCBI chrNW_004936587:3,406,055...3,806,956 JBrowse link
G Hapstr1 HUWE1 associated protein modifying stress responses ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chrNW_004936530:7,778,529...7,867,667 JBrowse link
G Itsn2 intersectin 2 ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:25741868 NCBI chrNW_004936493:7,716,424...7,842,818 JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chrNW_004936530:7,630,668...7,648,658 JBrowse link
G Sptan1 spectrin alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936487:16,071,043...16,142,662 JBrowse link
G Tmem186 transmembrane protein 186 ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chrNW_004936530:7,626,747...7,630,581 JBrowse link
G Usp7 ubiquitin specific peptidase 7 ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chrNW_004936530:7,693,681...7,724,215 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 subunit gamma2 ISO ClinVar Annotator: match by term: Lennox-Gastaut syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936515:1,609,370...1,670,412 JBrowse link
G Gatm glycine amidinotransferase ISO ClinVar Annotator: match by term: Lennox-Gastaut syndrome ClinVar NCBI chrNW_004936471:8,017,611...8,032,703 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 More... NCBI chrNW_004936470:16,712,508...17,009,648 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_004936896:228,908...539,836 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 More... NCBI chrNW_004936483:15,178,947...15,196,277 JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy Lennox-Gastaut type ClinVar PMID:17347258 PMID:19589774 PMID:26633542 PMID:28492532 NCBI chrNW_004936469:13,194,769...13,345,979 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_004936469:32,240,730...32,372,413 JBrowse link
ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl13a ADP ribosylation factor like GTPase 13A ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chrNW_004936813:66,944...80,346 JBrowse link
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chrNW_004936813:429,400...467,481 JBrowse link
G Cenpi centromere protein I ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chrNW_004936813:171,187...224,442 JBrowse link
G Cstf2 cleavage stimulation factor subunit 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chrNW_004936584:6,042,785...6,066,758 JBrowse link
G Drp2 dystrophin related protein 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chrNW_004936813:292,408...334,079 JBrowse link
G Gla galactosidase alpha ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chrNW_004936813:474,938...484,753 JBrowse link
G Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chrNW_004936813:484,872...489,822 JBrowse link
G Nox1 NADPH oxidase 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chrNW_004936584:6,023,960...6,040,041 JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chrNW_004936584:5,568,740...5,668,095 JBrowse link
G Rpl36a ribosomal protein L36a ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chrNW_004936813:467,505...470,673 JBrowse link
G Srpx2 sushi repeat containing protein X-linked 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked OMIM
ClinVar
PMID:16497722 PMID:18718938 PMID:23352160 PMID:23831613 PMID:23871722 More... NCBI chrNW_004936584:5,855,818...5,879,478 JBrowse link
G Sytl4 synaptotagmin like 4 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chrNW_004936584:5,882,428...5,945,514 JBrowse link
G Taf7l TATA-box binding protein associated factor 7 like ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chrNW_004936813:357,571...378,479 JBrowse link
G Timm8a translocase of inner mitochondrial membrane 8A ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chrNW_004936813:425,613...428,722 JBrowse link
G Tmem35a transmembrane protein 35A ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chrNW_004936813:150,204...167,931 JBrowse link
G Tnmd tenomodulin ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chrNW_004936584:5,803,309...5,818,643 JBrowse link
G Trmt2b tRNA methyltransferase 2 homolog B ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chrNW_004936813:93,738...130,928 JBrowse link
G Tspan6 tetraspanin 6 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chrNW_004936584:5,842,549...5,848,533 JBrowse link
G Xkrx XK related X-linked ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chrNW_004936813:22,094...34,529 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:7574460 PMID:16199547 PMID:18414213 PMID:20890276 PMID:21559497 More... NCBI chrNW_004936530:8,286,101...8,612,183 JBrowse link
G Sptan1 spectrin alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936487:16,071,043...16,142,662 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 ClinVar Annotator: match by term: Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome OMIM
ClinVar
PMID:10072049 PMID:23526554 PMID:24291220 PMID:27281533 PMID:28492532 More... NCBI chrNW_004936694:1,556,717...1,582,019 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13721
    syndrome 8335
      electroclinical syndrome 910
        absence epilepsy 122
          adolescence-adult electroclinical syndrome + 39
          childhood electroclinical syndrome + 88
Path 2
Term Annotations click to browse term
  disease 13721
    disease of anatomical entity 13453
      nervous system disease 11446
        central nervous system disease 10014
          brain disease 9383
            epilepsy 2432
              electroclinical syndrome 910
                absence epilepsy 122
                  adolescence-adult electroclinical syndrome + 39
                  childhood electroclinical syndrome + 88
paths to the root