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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 CHD2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Absence seizures ClinVar PMID:30311386 NCBI chr15:71,568,560...71,713,330
Ensembl chr15:90,781,169...90,903,569
JBrowse link
G RELN reelin ISO ClinVar Annotator: match by term: Absence seizures ClinVar PMID:28492532, PMID:30311386 NCBI chr 7:95,464,285...95,984,813
Ensembl chr 7:108,208,344...108,728,037
JBrowse link
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, PMID:30311386 NCBI chr2B:53,258,614...53,348,131
Ensembl chr2B:170,736,651...170,822,014
JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Absence seizures ClinVar PMID:25741868 NCBI chr2B:53,468,290...53,643,747
Ensembl chr2B:170,944,974...171,054,013
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:26467025, PMID:29358611 NCBI chr 8:17,272,632...17,300,902 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 chr15:71,568,560...71,713,330
Ensembl chr15:90,781,169...90,903,569
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 7:137,858,607...140,150,820
Ensembl chr 7:150,345,240...152,626,818
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 8:63,962,991...64,285,840
Ensembl chr 8:65,624,306...65,946,848
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 chr21:30,030,359...30,032,899 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 chr22:12,774,147...12,929,261 JBrowse link
G EPM2A EPM2A glucan phosphatase, laforin ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 6:143,179,097...143,525,223 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, PMID:29100083, PMID:29358611 NCBI chr 5:157,436,113...157,529,586
Ensembl chr 5:164,068,122...164,222,179
JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 9:108,198,350...108,228,887
Ensembl chr 9:137,168,722...137,197,382
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 chr16:8,682,169...9,105,581
Ensembl chr16:9,919,143...10,336,167
JBrowse link
G IER3IP1 immediate early response 3 interacting protein 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr18:40,543,039...40,564,372 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 8:128,769,930...129,134,671
Ensembl chr 8:131,755,454...131,815,237
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 chr 9:106,773,184...106,867,490
Ensembl chr 9:135,763,956...135,852,482
JBrowse link
G MAF MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532, PMID:29358611 NCBI chr16:60,188,494...60,194,871 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:89,504,404...89,622,354
Ensembl chr  X:99,643,595...99,759,631
JBrowse link
G PLCB1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr20:8,106,665...8,858,572
Ensembl chr20:7,887,960...8,636,019
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 chr12:46,127,673...46,262,333
Ensembl chr12:47,100,393...47,126,102
JBrowse link
G PRICKLE2 prickle planar cell polarity protein 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532, PMID:29358611 NCBI chr 3:63,995,566...64,347,679
Ensembl chr 3:65,377,760...65,723,662
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 chr16:4,162,659...6,640,962 JBrowse link
G RBFOX3 RNA binding fox-1 homolog 3 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr17:73,163,818...73,690,675
Ensembl chr17:78,711,056...78,732,131
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 chr 7:95,464,285...95,984,813
Ensembl chr 7:108,208,344...108,728,037
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 4:47,992,589...48,047,528
Ensembl chr 4:53,830,488...53,886,059
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 chr2B:53,258,614...53,348,131
Ensembl chr2B:170,736,651...170,822,014
JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr19:31,974,499...31,984,488 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 chr2B:52,514,918...52,667,225
Ensembl chr2B:169,928,323...170,027,509
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 chr2B:53,468,290...53,643,747
Ensembl chr2B:170,944,974...171,054,013
JBrowse link
G SLC2A1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 1:42,224,273...42,257,184
Ensembl chr 1:43,600,733...43,634,143
JBrowse link
G SLC6A1 solute carrier family 6 member 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 3:10,930,455...10,976,968
Ensembl chr 3:11,296,023...11,323,624
JBrowse link
G SNIP1 Smad nuclear interacting protein 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 1:36,807,488...36,827,347
Ensembl chr 1:38,155,375...38,176,803
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 9:99,674,819...99,755,973
Ensembl chr 9:128,341,739...128,422,971
JBrowse link
G STRADA STE20 related adaptor alpha ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr17:57,783,114...57,822,056
Ensembl chr17:62,929,065...62,967,021
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 chr 1:42,691,292...42,754,046
Ensembl chr 1:44,068,998...44,129,456
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 chr16:1,331,630...1,362,320
Ensembl chr16:2,581,835...2,603,912
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 chr16:58,689,609...59,800,333
Ensembl chr16:78,125,302...79,231,546
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 DNA:mutation:cds:752T>A (p.M251K)(rat)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:17196942 RGD:1598976 NCBI chr19:12,769,586...13,189,022
Ensembl chr19:13,507,102...13,804,729
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
RGD
CTD
PMID:12891677, PMID:14729682, PMID:15048902, PMID:15852375, PMID:15888660, PMID:17696120, PMID:25741868, PMID:26467025, PMID:28492532 RGD:1358447 Ensembl chr16:1,195,364...1,222,917 JBrowse link
G CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14660671 NCBI chr 3:50,288,926...50,430,152
Ensembl chr 3:51,526,075...51,640,406
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 chr22:17,475,693...17,618,299
Ensembl chr22:35,317,121...35,454,850
JBrowse link
G CACNG3 calcium voltage-gated channel auxiliary subunit gamma 3 ISO RGD PMID:11904235 RGD:728397 Ensembl chr16:24,501,881...24,608,921 JBrowse link
G EFHC1 EF-hand domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:51,972,041...52,044,219
Ensembl chr 6:53,239,474...53,344,404
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: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 chr 5:157,234,725...157,287,475
Ensembl chr 5:163,928,392...163,981,117
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 chr 5:157,072,915...157,089,994
Ensembl chr 5:163,767,304...163,784,331
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
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 chr15:3,129,481...3,357,495
Ensembl chr15:23,981,359...24,058,357
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 chr 5:157,436,113...157,529,586
Ensembl chr 5:164,068,122...164,222,179
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO protein:increased expression:thalamus RGD PMID:10975907 RGD:6484590 NCBI chr10:83,498,338...83,540,730 JBrowse link
G GRIK1 glutamate ionotropic receptor kainate type subunit 1 ISO RGD PMID:9259378 RGD:1358334 NCBI chr21:15,976,931...16,357,578
Ensembl chr21:29,364,269...29,743,379
JBrowse link
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO RGD PMID:15182313 RGD:9686420 NCBI chr 5:64,673,392...65,116,259
Ensembl chr 5:69,724,767...70,158,761
JBrowse link
G HTR7 5-hydroxytryptamine receptor 7 ISO RGD PMID:15050708 RGD:6480686 NCBI chr10:87,480,970...87,598,212
Ensembl chr10:91,009,941...91,125,158
JBrowse link
G JRK Jrk helix-turn-helix protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11463517 NCBI chr 8:139,362,543...139,382,226
Ensembl chr 8:142,413,460...142,426,103
JBrowse link
G KCNK9 potassium two pore domain channel subfamily K member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15781965 NCBI chr 8:136,270,521...136,376,248
Ensembl chr 8:139,366,227...139,472,484
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 chr19:32,070,563...32,082,273
Ensembl chr19:40,808,847...40,827,024
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:20303372 RGD:8547934 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
JBrowse link
G NPY neuropeptide Y treatment ISO RGD PMID:17331209, PMID:24039965 RGD:10448963, RGD:10448964 NCBI chr 7:24,963,056...24,970,803
Ensembl chr 7:24,568,041...24,574,657
JBrowse link
G NPY1R neuropeptide Y receptor Y1 treatment ISO RGD PMID:17331209 RGD:10448963 NCBI chr 4:155,583,870...155,604,336
Ensembl chr 4:167,372,310...167,381,597
JBrowse link
G NPY2R neuropeptide Y receptor Y2 treatment ISO RGD PMID:17331209 RGD:10448963 NCBI chr 4:147,542,551...147,586,397
Ensembl chr 4:159,401,080...159,402,231
JBrowse link
G NPY5R neuropeptide Y receptor Y5 treatment ISO RGD PMID:17331209 RGD:10448963 NCBI chr 4:155,603,739...155,612,302 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 chr19:31,974,499...31,984,488 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 1:42,224,273...42,257,184
Ensembl chr 1:43,600,733...43,634,143
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 8:97,560,251...97,595,117 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 chr15:4,064,605...4,262,695
Ensembl chr15:23,090,927...23,275,674
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 chr15:2,953,857...3,036,722
Ensembl chr15:24,300,300...24,382,730
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: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 chr15:3,129,481...3,357,495
Ensembl chr15:23,981,359...24,058,357
JBrowse link
G RORB RAR related orphan receptor B ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 1 ClinVar PMID:25950944 NCBI chr 9:50,144,836...50,340,910
Ensembl chr 9:73,469,767...73,543,030
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: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 chr 5:157,436,113...157,529,586
Ensembl chr 5:164,068,122...164,222,179
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 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Tonic-clonic convulsions ClinVar PMID:2842249, PMID:8496742, PMID:11020638, PMID:15260953, PMID:16632466, PMID:19652145, PMID:22534615, PMID:22842232, PMID:22850527, PMID:22924536, PMID:22933743, PMID:23409136, PMID:23483595, PMID:24088041, PMID:24100174, PMID:24123283, PMID:24431296, PMID:24436111, PMID:24468074, PMID:24631656, PMID:24739246, PMID:24842602, PMID:24996492, PMID:25359261, PMID:25523819, PMID:25656163, PMID:25681536, PMID:25741868, PMID:25895915, PMID:25996915, PMID:26297560, PMID:26400718, PMID:26410222, PMID:26633545, PMID:27091223, PMID:28293679, PMID:28492532, PMID:29184165, PMID:30311386, PMID:32581362 NCBI chr19:38,854,243...38,882,034 JBrowse link
G BCHE butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15121994 NCBI chr 3:162,794,184...162,858,574
Ensembl chr 3:170,845,494...170,911,481
JBrowse link
G BDNF brain derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr11:27,618,322...27,687,661
Ensembl chr11:27,520,312...27,589,239
JBrowse link
G FGF2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942
JBrowse link
G HBEGF heparin binding EGF like growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr 5:135,699,553...135,713,366
Ensembl chr 5:141,816,402...141,830,531
JBrowse link
G KCNC1 potassium voltage-gated channel subfamily C member 1 ISO ClinVar Annotator: match by term: Tonic-clonic convulsions ClinVar PMID:30311386 NCBI chr11:17,788,010...17,936,591
Ensembl chr11:17,472,158...17,517,892
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 1:135,391,321...135,424,100 JBrowse link
G LGI1 leucine rich glioma inactivated 1 ISO RGD PMID:30813600 RGD:14995940 NCBI chr10:90,506,131...90,546,582
Ensembl chr10:94,016,703...94,056,820
JBrowse link
G LIG1 DNA ligase 1 ISO RGD PMID:30813600 RGD:14995940 NCBI chr19:45,056,737...45,110,867
Ensembl chr19:53,706,778...53,761,088
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 chr2B:11,347,218...11,842,644
Ensembl chr2B:152,754,368...152,874,042
JBrowse link
G NES nestin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16137769 NCBI chr 1:132,012,273...132,020,907
Ensembl chr 1:135,835,456...135,844,094
JBrowse link
G NGF nerve growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr 1:87,223,597...87,276,759 JBrowse link
G NTF3 neurotrophin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr12:5,551,734...5,615,981
Ensembl chr12:5,530,508...5,533,989
JBrowse link
G OXT oxytocin/neurophysin I prepropeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:4988877, PMID:6407273 NCBI chr20:3,157,246...3,159,013 JBrowse link
G PCDH19 protocadherin 19 ISO ClinVar Annotator: match by term: Tonic-clonic convulsions ClinVar NCBI chr  X:89,504,404...89,622,354
Ensembl chr  X:99,643,595...99,759,631
JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:4371370 NCBI chr2A:25,161,668...25,165,600
Ensembl chr2A:25,258,768...25,262,706
JBrowse link
G PTPN23 protein tyrosine phosphatase non-receptor type 23 ISO ClinVar Annotator: match by term: Tonic-clonic convulsions ClinVar PMID:30311386 NCBI chr 3:47,280,706...47,314,268
Ensembl chr 3:48,379,810...48,413,488
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, PMID:30311386 NCBI chr2B:53,258,614...53,348,131
Ensembl chr2B:170,736,651...170,822,014
JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Tonic-clonic convulsions ClinVar PMID:25741868 NCBI chr12:36,950,057...37,172,235
Ensembl chr12:37,730,900...37,876,357
JBrowse link
G SLC25A24 solute carrier family 25 member 24 ISO ClinVar Annotator: match by term: Tonic-clonic convulsions ClinVar PMID:25741868 NCBI chr 1:110,672,168...110,736,204
Ensembl chr 1:109,786,563...109,850,397
JBrowse link
G SOX2 SRY-box transcription factor 2 ISO ClinVar Annotator: match by term: Tonic-clonic convulsions ClinVar PMID:30311386 NCBI chr 3:178,744,881...178,747,392
Ensembl chr 3:186,922,705...186,923,662
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 9:99,674,819...99,755,973
Ensembl chr 9:128,341,739...128,422,971
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 8:114,823,792...115,312,738 JBrowse link
familial adult myoclonic epilepsy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STARD7 StAR related lipid transfer domain containing 7 ISO OMIM NCBI chr2A:103,106,863...103,130,490
Ensembl chr2A:97,111,420...97,132,081
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 chr 5:10,666,978...10,753,050
Ensembl chr 5:10,524,958...10,608,046
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 chr 3:180,736,213...180,847,545
Ensembl chr 3:188,903,615...189,016,942
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 1:180,645,259...180,680,081
Ensembl chr 1:184,931,497...184,966,482
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 Ensembl chr16:24,966,474...25,064,998 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 OMIM NCBI chr 4:151,419,402...151,680,769
Ensembl chr 4:163,316,396...163,487,495
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 chr 3:181,383,608...181,399,200
Ensembl chr 3:189,862,489...189,881,049
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: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 chr 5:157,234,725...157,287,475
Ensembl chr 5:163,928,392...163,981,117
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 chr15:10,525,535...10,667,227
Ensembl chr15:29,565,885...29,705,194
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 chr 6:51,972,041...52,044,219
Ensembl chr 6:53,239,474...53,344,404
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 6:32,538,130...32,550,823
Ensembl chr 6:33,657,648...33,666,031
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:28492532 NCBI chr2B:39,137,777...39,399,007 JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar PMID:28492532 NCBI chr2B:62,022,498...62,039,370
Ensembl chr2B:179,476,677...179,504,763
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8737649, PMID:12439895, PMID:15258581, PMID:16839746, PMID:17054699, PMID:17159113, PMID:17634063, PMID:18414213, PMID:18823326, PMID:20981092, PMID:22226147, PMID:22690745, PMID:22926142, PMID:23527921, PMID:24033266, PMID:24965021, PMID:25108116, PMID:25326635, PMID:25489633, PMID:25625532, PMID:25741868, PMID:26467025, PMID:27467453, PMID:28370826, PMID:28492532 NCBI chr 6:51,972,041...52,044,219
Ensembl chr 6:53,239,474...53,344,404
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 chr 5:157,234,725...157,287,475
Ensembl chr 5:163,928,392...163,981,117
JBrowse link
G JRK Jrk helix-turn-helix protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11463517 NCBI chr 8:139,362,543...139,382,226
Ensembl chr 8:142,413,460...142,426,103
JBrowse link
G LOC100983419 voltage-dependent T-type calcium channel subunit alpha-1G ISO ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar NCBI chr17:44,654,558...44,786,037
Ensembl chr17:49,529,402...49,595,166
Ensembl chr17:49,529,402...49,595,166
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 6:52,556,272...52,617,199
Ensembl chr 6:54,198,594...54,255,435
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 chr16:8,682,169...9,105,581
Ensembl chr16:9,919,143...10,336,167
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 chr 5:157,436,113...157,529,586
Ensembl chr 5:164,068,122...164,222,179
JBrowse link
G GATM glycine amidinotransferase ISO ClinVar Annotator: match by term: Lennox-Gastaut syndrome ClinVar NCBI chr15:24,309,045...24,326,673
Ensembl chr15:42,639,597...42,657,209
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 chr 8:128,769,930...129,134,671
Ensembl chr 8:131,755,454...131,815,237
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 4:78,326,129...78,756,794
Ensembl chr 4:89,059,579...89,392,196
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 chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739
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 chr2B:53,258,614...53,348,131
Ensembl chr2B:170,736,651...170,822,014
JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Lennox-Gastaut syndrome ClinVar PMID:28492532 NCBI chr2B:15,325,094...15,460,908
Ensembl chr2B:148,460,904...148,596,500
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 chr16:8,682,169...9,105,581
Ensembl chr16:9,919,143...10,336,167
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:89,854,389...89,886,776
Ensembl chr  X:99,994,560...100,021,241
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 chr16:1,331,630...1,362,320
Ensembl chr16:2,581,835...2,603,912
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12752
    syndrome 6179
      electroclinical syndrome 375
        absence epilepsy 97
          adolescence-adult electroclinical syndrome + 39
          childhood electroclinical syndrome + 65
Path 2
Term Annotations click to browse term
  disease 12752
    disease of anatomical entity 12282
      nervous system disease 10043
        central nervous system disease 8492
          brain disease 7871
            epilepsy 1468
              electroclinical syndrome 375
                absence epilepsy 97
                  adolescence-adult electroclinical syndrome + 39
                  childhood electroclinical syndrome + 65
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.