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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:absence epilepsy
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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.


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absence epilepsy 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 term: Absence seizures ClinVar PMID:11254445 PMID:18021921 PMID:21396429 PMID:22550089 PMID:22780858 PMID:23398611 PMID:25741868 PMID:26990884 PMID:28492532 PMID:29358611 NCBI chr15:72,529,866...72,696,715
Ensembl chr15:72,529,875...72,678,067
JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Absence seizures ClinVar PMID:25741868 NCBI chr15:72,745,706...72,912,352
Ensembl chr15:72,748,692...72,912,407
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 chr17:5,712,048...5,749,811
Ensembl chr17:5,712,056...5,758,830
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 chr 7:85,980,759...86,107,886 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 chr 9:109,740,510...111,781,144 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 chr 4:67,157,341...67,411,582
Ensembl chr 4:67,158,043...67,411,593
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 chr13:206,706,060...206,710,598
Ensembl chr13:206,706,063...206,710,646
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 chr14:48,421,788...48,523,530 JBrowse link
G EPM2A EPM2A glucan phosphatase, laforin ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 1:19,806,363...19,893,350
Ensembl chr 1:19,755,720...20,024,398
JBrowse link
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:9536098 PMID:17576681 PMID:23708187 PMID:25726841 PMID:25730860 PMID:27864268 PMID:28492532 PMID:29100083 PMID:29358611 NCBI chr16:61,441,622...61,543,375
Ensembl chr16:61,441,626...61,543,361
JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611
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:25741868 PMID:25904555 PMID:26467025 PMID:26601054 PMID:27288002 PMID:28102150 PMID:28492532 PMID:29358611 NCBI chr 3:32,749,329...33,149,350
Ensembl chr 3:32,752,351...33,143,499
JBrowse link
G IER3IP1 immediate early response 3 interacting protein 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 1:96,740,718...96,763,875 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 chr17:62,459,277...62,506,403
Ensembl chr17:62,459,279...62,506,425
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 chr 4:8,669,969...8,978,656
Ensembl chr 4:8,670,176...8,970,342
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
G LOC100515171 sodium channel protein type 2 subunit alpha ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:28492532 PMID:29358611 NCBI chr15:71,864,753...71,999,219
Ensembl chr15:71,864,739...71,999,212
JBrowse link
G MAF MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532 PMID:29358611 NCBI chr 6:8,468,736...8,910,012
Ensembl chr 6:8,468,112...8,485,223
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 chr  X:82,031,365...82,153,159
Ensembl chr  X:82,036,165...82,151,453
JBrowse link
G PLCB1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr17:17,007,197...17,745,314
Ensembl chr17:17,007,261...17,745,312
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 chr 5:73,707,026...73,826,529
Ensembl chr 5:73,707,022...73,826,431
JBrowse link
G PRICKLE2 prickle planar cell polarity protein 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532 PMID:29358611 NCBI chr13:45,620,372...45,968,295
Ensembl chr13:45,620,367...45,968,152
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 chr 3:34,938,703...37,209,772
Ensembl chr 3:34,939,572...37,209,658
JBrowse link
G RBFOX3 RNA binding fox-1 homolog 3 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr12:3,116,769...3,138,846
Ensembl chr12:2,710,014...3,137,519
JBrowse link
G RELN reelin ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:14515139 PMID:14593429 PMID:20697953 PMID:24828792 PMID:25620207 PMID:25741868 PMID:26467025 PMID:27884173 PMID:28492532 PMID:29358611 NCBI chr 9:103,460,855...103,963,728
Ensembl chr 9:103,460,857...103,963,965
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 chr 8:71,838,395...71,910,461
Ensembl chr 8:71,838,788...71,940,607
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 NCBI chr15:72,529,866...72,696,715
Ensembl chr15:72,529,875...72,678,067
JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 6:44,597,461...44,607,488
Ensembl chr 6:44,597,713...44,607,490
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 NCBI chr15:72,745,706...72,912,352
Ensembl chr15:72,748,692...72,912,407
JBrowse link
G SLC2A1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 6:168,535,398...168,561,170
Ensembl chr 6:168,534,655...168,690,095
JBrowse link
G SLC6A1 solute carrier family 6 member 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr13:67,156,786...67,199,092
Ensembl chr13:67,156,824...67,199,087
JBrowse link
G SNIP1 Smad nuclear interacting protein 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 6:93,597,050...93,612,169
Ensembl chr 6:93,597,055...93,612,152
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 chr 1:268,936,120...269,002,261
Ensembl chr 1:268,936,025...269,002,261
JBrowse link
G STRADA STE20 related adaptor alpha ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532 PMID:29358611 NCBI chr12:15,191,793...15,222,709
Ensembl chr12:15,191,782...15,227,697
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 chr 6:167,811,589...167,861,321
Ensembl chr 6:167,811,594...167,861,307
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 chr 3:39,545,688...39,572,320 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 chr 6:8,910,209...9,871,048
Ensembl chr 6:8,911,139...9,871,102
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 chr 2:65,491,784...65,871,068 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:16754686 PMID:17696120 PMID:25741868 PMID:26467025 PMID:28492532 RGD:1358447 NCBI chr 3:40,637,420...40,694,616
Ensembl chr 3:40,637,436...40,694,818
JBrowse link
G CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14660671 NCBI chr13:32,845,110...32,988,851
Ensembl chr13:32,845,115...32,988,774
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 chr 5:11,067,016...11,185,480
Ensembl chr 5:11,067,692...11,185,505
JBrowse link
G CACNG3 calcium voltage-gated channel auxiliary subunit gamma 3 ISO RGD PMID:11904235 RGD:728397 NCBI chr 3:21,855,847...21,961,191
Ensembl chr 3:21,855,852...21,961,198
JBrowse link
G EFHC1 EF-hand domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:46,244,915...46,320,261
Ensembl chr 7:46,239,230...46,320,256
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:16530959 PMID:16569738 PMID:16718694 PMID:24623842 PMID:25741868 PMID:26467025 PMID:26918889 PMID:27521439 PMID:28251550 PMID:28492532 NCBI chr16:61,656,583...61,723,428
Ensembl chr16:61,656,583...61,724,257
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 chr16:61,855,698...61,872,503
Ensembl chr16:61,856,212...61,872,359
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
DNA:SNPs
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
RGD
CTD
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 chr 1:140,566,443...140,906,516
Ensembl chr 1:140,566,287...140,905,658
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 chr16:61,441,622...61,543,375
Ensembl chr16:61,441,626...61,543,361
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO protein:increased expression:thalamus RGD PMID:10975907 RGD:6484590 NCBI chr14:87,968,850...88,005,375
Ensembl chr14:87,968,850...88,005,550
JBrowse link
G GRIK1 glutamate ionotropic receptor kainate type subunit 1 ISO RGD PMID:9259378 RGD:1358334 NCBI chr13:192,877,707...193,296,954
Ensembl chr13:192,877,618...193,294,952
JBrowse link
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO RGD PMID:15182313 RGD:9686420 NCBI chr16:29,439,294...29,808,855
Ensembl chr16:29,439,263...29,809,748
JBrowse link
G HTR7 5-hydroxytryptamine receptor 7 ISO RGD PMID:15050708 RGD:6480686 NCBI chr14:102,443,312...102,548,894
Ensembl chr14:102,444,566...102,548,931
JBrowse link
G JRK Jrk helix-turn-helix protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11463517 NCBI chr 4:1,476,298...1,493,597
Ensembl chr 4:1,490,800...1,492,356
JBrowse link
G KCNK9 potassium two pore domain channel subfamily K member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15781965 NCBI chr 4:3,562,086...3,643,248
Ensembl chr 4:3,561,851...3,641,315
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 chr 6:44,655,621...44,663,874
Ensembl chr 6:44,655,617...44,663,234
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:20303372 RGD:8547934 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,175,056...48,188,264
JBrowse link
G NPY neuropeptide Y treatment ISO RGD PMID:17331209 PMID:24039965 RGD:10448963 RGD:10448964 NCBI chr18:47,985,796...47,993,726
Ensembl chr18:47,985,725...47,993,289
JBrowse link
G NPY1R neuropeptide Y receptor Y1 treatment ISO RGD PMID:17331209 RGD:10448963 NCBI chr 8:52,152,649...52,163,080
Ensembl chr 8:52,152,651...52,162,943
JBrowse link
G NPY2R neuropeptide Y receptor Y2 treatment ISO RGD PMID:17331209 RGD:10448963 NCBI chr 8:74,039,959...74,048,398
Ensembl chr 8:74,039,609...74,047,817
JBrowse link
G NPY5R neuropeptide Y receptor Y5 treatment ISO RGD PMID:17331209 RGD:10448963 NCBI chr 8:52,173,906...52,183,336
Ensembl chr 8:52,174,299...52,183,334
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 chr 6:44,597,461...44,607,488
Ensembl chr 6:44,597,713...44,607,490
JBrowse link
G SLC2A1 solute carrier family 2 member 1 onset ISO DNA:deletion, missense mutations, SNP:multiple RGD PMID:26537434 RGD:11058811 NCBI chr 6:168,535,398...168,561,170
Ensembl chr 6:168,534,655...168,690,095
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 chr 4:35,975,513...36,009,909
Ensembl chr 4:35,975,541...36,009,777
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 chr 1:141,493,551...141,667,346 JBrowse link
G GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 1 ClinVar PMID:11198279 PMID:28492532 NCBI chr 1:140,486,107...140,568,204
Ensembl chr 1:140,486,103...140,567,893
JBrowse link
G GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 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:9536098 PMID:11198279 PMID:11742254 PMID:12189488 PMID:17576681 PMID:18514161 PMID:19935738 PMID:20550555 PMID:23495136 PMID:23934111 PMID:24909990 PMID:25533962 PMID:25726841 PMID:25741868 PMID:25849321 PMID:26068938 PMID:26467025 PMID:26704558 PMID:26845707 PMID:26950270 PMID:27476654 PMID:27622563 PMID:28053010 PMID:28281572 PMID:28492532 PMID:28544625 PMID:28607477 PMID:29961870 NCBI chr 1:140,566,443...140,906,516
Ensembl chr 1:140,566,287...140,905,658
JBrowse link
G RORB RAR related orphan receptor B ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 1 ClinVar PMID:25950944 NCBI chr 1:227,573,972...227,776,806
Ensembl chr 1:227,574,647...227,772,693
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 PMID:12117362 PMID:12477709 PMID:15342642 PMID:15470132 PMID:15866052 PMID:16510738 PMID:16924025 PMID:17148443 PMID:17576681 PMID:18094250 PMID:18414213 PMID:18566737 PMID:20485450 PMID:20551311 PMID:21425109 PMID:21714819 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:28166811 PMID:28460589 PMID:28492532 PMID:29100083 PMID:29358611 PMID:29655203 PMID:29778030 PMID:30660939 NCBI chr16:61,441,622...61,543,375
Ensembl chr16:61,441,626...61,543,361
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 chr13:104,946,732...105,007,568 JBrowse link
G BDNF brain derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr 2:32,623,668...32,679,293
Ensembl chr 2:32,623,268...32,679,164
JBrowse link
G CYP2D6 cytochrome P450 family 2 subfamily D member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16835697 NCBI chr 5:6,539,021...6,543,643
Ensembl chr 5:6,538,907...6,543,643
JBrowse link
G FGF2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,878...101,343,916
JBrowse link
G HBEGF heparin binding EGF like growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr 2:142,102,455...142,115,192
Ensembl chr 2:142,102,456...142,115,344
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 chr 4:90,421,956...90,457,406
Ensembl chr 4:90,422,025...90,457,407
JBrowse link
G LGI1 leucine rich glioma inactivated 1 ISO RGD PMID:30813600 RGD:14995940 NCBI chr14:105,219,901...105,251,423
Ensembl chr14:105,219,544...105,256,648
JBrowse link
G LIG1 DNA ligase 1 ISO RGD PMID:30813600 RGD:14995940 NCBI chr 6:53,620,483...53,660,020
Ensembl chr 6:53,620,483...53,686,562
JBrowse link
G MBD5 methyl-CpG binding domain protein 5 ISO ClinVar Annotator: match by term: Tonic-clonic convulsions ClinVar PMID:25741868 PMID:28492532 NCBI chr15:3,649,859...4,096,459
Ensembl chr15:3,659,015...4,096,248
JBrowse link
G NES nestin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16137769 NCBI chr 4:93,412,660...93,421,899
Ensembl chr 4:93,412,557...93,421,895
JBrowse link
G NGF nerve growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr 4:105,256,691...105,307,843
Ensembl chr 4:105,256,417...105,307,842
JBrowse link
G NTF3 neurotrophin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr 5:65,052,608...65,122,645
Ensembl chr 5:65,052,517...65,123,788
JBrowse link
G OXT oxytocin/neurophysin I prepropeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:4988877 PMID:6407273 NCBI chr17:32,605,586...32,606,449
Ensembl chr17:32,605,588...32,606,483
JBrowse link
G PCDH19 protocadherin 19 ISO ClinVar Annotator: match by term: Tonic-clonic convulsions ClinVar NCBI chr  X:82,031,365...82,153,159
Ensembl chr  X:82,036,165...82,151,453
JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:4371370 NCBI chr 3:113,661,712...113,668,558 JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: tonic-clonic convulsions ClinVar PMID:11254445 PMID:18021921 PMID:21396429 PMID:22550089 PMID:22780858 PMID:23398611 PMID:25741868 PMID:26990884 PMID:28492532 PMID:29358611 NCBI chr15:72,529,866...72,696,715
Ensembl chr15:72,529,875...72,678,067
JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Tonic-clonic convulsions ClinVar PMID:25741868 NCBI chr 5:16,977,468...17,173,831
Ensembl chr 5:16,977,700...17,169,564
JBrowse link
G SLC25A24 solute carrier family 25 member 24 ISO ClinVar Annotator: match by term: Tonic-clonic convulsions ClinVar PMID:25741868 NCBI chr 4:111,580,186...111,632,390
Ensembl chr 4:111,579,200...111,634,271
JBrowse link
G SPTAN1 spectrin alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Tonic-clonic convulsions ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:268,936,120...269,002,261
Ensembl chr 1:268,936,025...269,002,261
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 OMIM NCBI chr 4:20,143,614...20,570,780
Ensembl chr 4:20,143,864...20,569,129
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 chr 3:45,760,966...45,762,306
Ensembl chr 3:45,758,268...45,764,178
JBrowse link
G STARD7 StAR related lipid transfer domain containing 7 ISO OMIM NCBI chr 3:46,992,708...47,017,668
Ensembl chr 3:46,992,777...47,019,206
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 OMIM NCBI chr16:72,043,294...72,127,869
Ensembl chr16:72,044,869...72,127,864
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 OMIM NCBI chr13:121,637,823...121,746,131
Ensembl chr13:121,637,866...121,746,129
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 OMIM NCBI chr 9:65,737,488...65,776,412
Ensembl chr 9:65,737,719...65,776,308
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 OMIM
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 OMIM NCBI chr 8:48,183,518...48,277,476
Ensembl chr 8:48,020,697...48,277,476
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 ABSENCE, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8
OMIM
ClinVar
PMID:12612585 PMID:15252188 PMID:15505175 PMID:16932951 PMID:17567819 PMID:19191339 PMID:19710712 PMID:21703448 PMID:23632988 PMID:25741868 PMID:28492532 NCBI chr13:122,234,731...122,249,889
Ensembl chr13:122,234,736...122,249,867
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
ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5
OMIM
ClinVar
PMID:11992121 PMID:16530959 PMID:16569738 PMID:18414213 PMID:18534981 PMID:20551311 PMID:21714819 PMID:24623842 PMID:25741868 PMID:26467025 PMID:26918889 PMID:27521439 PMID:28251550 PMID:28492532 NCBI chr16:61,656,583...61,723,428
Ensembl chr16:61,656,583...61,724,257
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 1:142,803,697...142,937,124
Ensembl chr 1:142,803,698...142,937,788
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 PMID:31875159 NCBI chr 7:46,244,915...46,320,261
Ensembl chr 7:46,239,230...46,320,256
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 chr 7:25,096,579...25,162,591
Ensembl chr 7:25,150,658...25,165,433
JBrowse link
G CACNA1G calcium voltage-gated channel subunit alpha1 G ISO ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar NCBI chr12:26,838,633...26,912,344
Ensembl chr12:26,844,079...26,912,054
JBrowse link
G CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy
CTD
ClinVar
PMID:10762541 PMID:25741868 PMID:26467025 PMID:28166811 PMID:28492532 NCBI chr15:402,801...455,691
Ensembl chr15:186,315...459,856
JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar PMID:28492532 NCBI chr15:80,673,072...80,692,256
Ensembl chr15:80,673,033...80,692,208
JBrowse link
G EFHC1 EF-hand domain containing 1 susceptibility ISO ClinVar Annotator: match by term: Juvenile myoclonic epilepsy
ClinVar Annotator: match by term: Myoclonic Epilepsy, Juvenile, 1
ClinVar Annotator: match by term: Myoclonic epilepsy, juvenile 1
OMIM
ClinVar
PMID:8737649 PMID:12439895 PMID:15258581 PMID:16839746 PMID:17054699 PMID:17159113 PMID:17634063 PMID:18414213 PMID:18505993 PMID:18823326 PMID:20981092 PMID:22226147 PMID:22690745 PMID:22727576 PMID:22926142 PMID:23527921 PMID:24033266 PMID:24965021 PMID:25108116 PMID:25326635 PMID:25489633 PMID:25625532 PMID:25741868 PMID:26467025 PMID:27467453 PMID:28166811 PMID:28370826 PMID:28492532 PMID:29750216 PMID:31875159 NCBI chr 7:46,244,915...46,320,261
Ensembl chr 7:46,239,230...46,320,256
JBrowse link
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy
CTD
ClinVar
NCBI chr16:61,656,583...61,723,428
Ensembl chr16:61,656,583...61,724,257
JBrowse link
G JRK Jrk helix-turn-helix protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11463517 NCBI chr 4:1,476,298...1,493,597
Ensembl chr 4:1,490,800...1,492,356
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 chr 7:46,658,671...46,723,286
Ensembl chr 7:46,658,681...46,723,585
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:18414213 PMID:20890276 PMID:21559497 PMID:23408766 PMID:23933818 PMID:23933819 PMID:23933820 PMID:25164438 PMID:25726841 PMID:25741868 PMID:25904555 PMID:26220384 PMID:26283219 PMID:26467025 PMID:26601054 PMID:27171548 PMID:27288002 PMID:27640074 PMID:27839871 PMID:28492532 PMID:29124671 PMID:29358611 NCBI chr 3:32,749,329...33,149,350
Ensembl chr 3:32,752,351...33,143,499
JBrowse link
G SPTAN1 spectrin alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Acquired epileptiform aphasia ClinVar PMID:28492532 NCBI chr 1:268,936,120...269,002,261
Ensembl chr 1:268,936,025...269,002,261
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:24407264 PMID:25741868 PMID:27066572 PMID:28492532 NCBI chr16:61,441,622...61,543,375
Ensembl chr16:61,441,626...61,543,361
JBrowse link
G GATM glycine amidinotransferase ISO ClinVar Annotator: match by term: Lennox-Gastaut syndrome ClinVar NCBI chr 1:126,361,968...126,378,705
Ensembl chr 1:126,361,945...126,380,872
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:30578330 PMID:31177578 PMID:31238879 NCBI chr 4:8,669,969...8,978,656
Ensembl chr 4:8,670,176...8,970,342
JBrowse link
G MAPK10 mitogen-activated protein kinase 10 ISO ClinVar Annotator: match by term: Epileptic encephalopathy Lennox-Gastaut type ClinVar PMID:16249883 NCBI chr 8:132,445,818...132,751,575
Ensembl chr 8:132,249,635...132,776,820
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:25193669 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29029963 PMID:30255931 PMID:30373890 PMID:31571979 PMID:31658717 PMID:31669236 PMID:32234506 NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,153...54,906,856
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:18804930 PMID:19589774 PMID:25348405 PMID:26633542 PMID:28492532 NCBI chr15:72,529,866...72,696,715
Ensembl chr15:72,529,875...72,678,067
JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Lennox-Gastaut syndrome ClinVar PMID:28492532 NCBI chr15:7,498,879...7,631,347
Ensembl chr15:7,499,026...7,632,655
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:18414213 PMID:20890276 PMID:21559497 PMID:23408766 PMID:23933818 PMID:23933819 PMID:23933820 PMID:25164438 PMID:25726841 PMID:25741868 PMID:25904555 PMID:26220384 PMID:26283219 PMID:26467025 PMID:26601054 PMID:27171548 PMID:27288002 PMID:27640074 PMID:27839871 PMID:28492532 PMID:29124671 PMID:29358611 NCBI chr 3:32,749,329...33,149,350
Ensembl chr 3:32,752,351...33,143,499
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:28492532 NCBI chr 1:268,936,120...269,002,261
Ensembl chr 1:268,936,025...269,002,261
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 chr  X:82,336,741...82,363,868
Ensembl chr  X:82,336,798...82,363,860
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 chr 3:39,545,688...39,572,320 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13426
    syndrome 6653
      electroclinical syndrome 631
        absence epilepsy 96
          adolescence-adult electroclinical syndrome + 37
          childhood electroclinical syndrome + 66
Path 2
Term Annotations click to browse term
  disease 13426
    disease of anatomical entity 13092
      nervous system disease 10817
        central nervous system disease 9485
          brain disease 8906
            epilepsy 1816
              electroclinical syndrome 631
                absence epilepsy 96
                  adolescence-adult electroclinical syndrome + 37
                  childhood electroclinical syndrome + 66
paths to the root