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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.


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 chr27:4,006,127...4,227,529
Ensembl chr27:4,009,971...4,227,403 		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 chr12:20,068,287...20,131,621
Ensembl chr12:20,067,881...20,131,619 		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 chr36:11,105,936...11,245,978
Ensembl chr36:11,108,050...11,183,496 		JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Absence seizure ClinVar PMID:25741868 NCBI chr36:11,287,358...11,382,897
Ensembl chr36:11,290,625...11,383,255 		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 chr16:41,297,215...41,335,521
Ensembl chr16:41,297,809...41,323,078 		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 3:47,101,789...47,221,473
Ensembl chr 3:47,105,046...47,221,385 		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 chr16:2,239,953...4,208,718
Ensembl chr16:2,243,918...4,208,416 		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 chr29:16,914,623...17,243,875
Ensembl chr29:16,914,985...17,244,350 		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...
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 chr26:24,629,369...24,754,728
Ensembl chr26:24,630,295...24,754,256 		JBrowse link
G EPM2A EPM2A glucan phosphatase, laforin ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 1:36,835,775...36,977,653
Ensembl chr 1:36,870,594...36,931,847 		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 chr 4:48,794,770...48,901,859
Ensembl chr 4:48,796,852...48,901,548 		JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 9:48,492,967...48,513,981
Ensembl chr 9:48,493,287...48,509,050 		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 chr 6:32,132,070...32,678,319
Ensembl chr 6:32,303,121...32,668,960 		JBrowse link
G IER3IP1 immediate early response 3 interacting protein 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 7:44,309,459...44,326,253 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 chr24:47,060,527...47,089,077
Ensembl chr24:47,060,245...47,089,711 		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 chr13:28,765,472...29,062,371
Ensembl chr13:28,773,738...29,062,370 		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 9:49,532,073...49,581,332
Ensembl chr 9:49,532,922...49,593,633 		JBrowse link
G MAF MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532 PMID:29358611 NCBI chr 5:71,965,291...71,982,903
Ensembl chr 5:71,965,500...71,981,735 		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 chr  X:74,179,609...74,319,138
Ensembl chr  X:74,184,772...74,317,391 		JBrowse link
G PLCB1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr24:13,337,285...13,996,218
Ensembl chr24:13,322,296...13,995,539 		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 chr27:11,327,086...11,437,799
Ensembl chr27:11,426,647...11,437,303 		JBrowse link
G PRICKLE2 prickle planar cell polarity protein 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532 PMID:29358611 NCBI chr20:26,810,167...27,131,864
Ensembl chr20:26,809,958...27,220,057 		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 6:34,218,276...36,255,529
Ensembl chr 6:34,220,648...36,255,384 		JBrowse link
G RBFOX3 RNA binding fox-1 homolog 3 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 9:2,362,354...2,374,492
Ensembl chr 9:2,362,231...2,372,739 		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 chr18:16,275,822...16,773,875
Ensembl chr18:16,275,837...16,773,875 		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 chr32:788,117...865,496
Ensembl chr32:790,379...865,502 		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 chr36:11,105,936...11,245,978
Ensembl chr36:11,108,050...11,183,496 		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 chr 1:117,504,428...117,510,666
Ensembl chr 1:117,503,828...117,511,727 		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 chr36:10,472,496...10,605,055
Ensembl chr36:10,472,361...10,602,685 		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 chr36:11,287,358...11,382,897
Ensembl chr36:11,290,625...11,383,255 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr15:463,307...493,145
Ensembl chr15:463,237...493,140 		JBrowse link
G SLC6A1 solute carrier family 6 member 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532 PMID:29358611 NCBI chr20:7,341,071...7,383,197
Ensembl chr20:7,341,072...7,383,287 		JBrowse link
G SNIP1 Smad nuclear interacting protein 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532 PMID:29358611 NCBI chr15:4,924,035...4,934,565
Ensembl chr15:4,924,178...4,933,724 		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 9:54,953,751...55,015,475
Ensembl chr 9:54,953,747...55,015,376 		JBrowse link
G STRADA STE20 related adaptor alpha ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532 PMID:29358611 NCBI chr 9:11,684,905...11,712,515
Ensembl chr 9:11,684,663...11,712,432 		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 chr15:16,729,068...16,780,549
Ensembl chr15:16,728,758...16,780,325 		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 6:38,531,547...38,557,472 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 5:72,298,254...73,243,667
Ensembl chr 5:72,299,157...73,261,406 		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 chr20:48,747,087...49,036,627
Ensembl chr20:48,821,025...49,036,032 		JBrowse link
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 chr 6:39,510,129...39,533,129
Ensembl chr 6:39,510,121...39,533,753 		JBrowse link
G CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14660671 NCBI chr20:38,859,047...38,995,239
Ensembl chr20:38,883,530...38,993,273 		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 chr10:27,750,314...27,862,646
Ensembl chr10:27,750,935...27,862,885 		JBrowse link
G CACNG3 calcium voltage-gated channel auxiliary subunit gamma 3 ISO RGD PMID:11904235 RGD:728397 NCBI chr 6:21,626,977...21,712,331
Ensembl chr 6:21,627,547...21,711,635 		JBrowse link
G EFHC1 EF-hand domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:20,068,287...20,131,621
Ensembl chr12:20,067,881...20,131,619 		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 chr 4:49,006,981...49,065,205
Ensembl chr 4:49,009,495...49,062,581 		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 4:49,208,691...49,225,754
Ensembl chr 4:49,208,605...49,226,212 		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 chr 3:33,878,948...34,101,987
Ensembl chr 3:33,878,904...34,097,764 		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 4:48,794,770...48,901,859
Ensembl chr 4:48,796,852...48,901,548 		JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO protein:increased expression:thalamus RGD PMID:10975907 RGD:6484590 NCBI chr 4:34,629,046...34,662,711 JBrowse link
G GRIK1 glutamate ionotropic receptor kainate type subunit 1 ISO RGD PMID:9259378 RGD:1358334 NCBI chr31:24,477,319...24,839,502
Ensembl chr31:24,478,696...24,839,434 		JBrowse link
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO RGD PMID:15182313 RGD:9686420 NCBI chr 4:64,777,069...65,162,603
Ensembl chr 4:64,775,577...65,160,444 		JBrowse link
G HTR7 5-hydroxytryptamine receptor 7 ISO RGD PMID:15050708 RGD:6480686 NCBI chr28:5,438,872...5,524,385
Ensembl chr28:5,440,388...5,524,191 		JBrowse link
G JRK Jrk helix-turn-helix protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11463517 NCBI chr13:36,754,771...36,767,799 JBrowse link
G KCNK9 potassium two pore domain channel subfamily K member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15781965 NCBI chr13:34,461,430...34,475,070
Ensembl chr13:34,473,488...34,474,866 		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 1:117,443,569...117,452,367
Ensembl chr 1:117,444,941...117,452,381 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:20303372 RGD:8547934 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293 		JBrowse link
G NPY neuropeptide Y treatment ISO RGD PMID:17331209 PMID:24039965 RGD:10448963 RGD:10448964 NCBI chr14:37,824,579...37,831,289
Ensembl chr14:37,823,861...37,831,443 		JBrowse link
G NPY1R neuropeptide Y receptor Y1 treatment ISO RGD PMID:17331209 RGD:10448963 NCBI chr15:59,580,546...59,587,753
Ensembl chr15:59,580,809...59,583,237 		JBrowse link
G NPY2R neuropeptide Y receptor Y2 treatment ISO RGD PMID:17331209 RGD:10448963 NCBI chr15:52,790,136...52,797,785
Ensembl chr15:52,794,671...52,795,818 		JBrowse link
G NPY5R neuropeptide Y receptor Y5 treatment ISO RGD PMID:17331209 RGD:10448963 NCBI chr15:59,600,212...59,608,576
Ensembl chr15:59,606,902...59,608,273 		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 1:117,504,428...117,510,666
Ensembl chr 1:117,503,828...117,511,727 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 onset ISO DNA:deletion, missense mutations, SNP:multiple RGD PMID:26537434 RGD:11058811 NCBI chr15:463,307...493,145
Ensembl chr15:463,237...493,140 		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 chr13:2,729,404...2,764,422 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 chr 3:34,841,218...35,028,718
Ensembl chr 3:34,841,073...35,028,040 		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 chr 3:33,663,414...33,746,120
Ensembl chr 3:33,664,169...33,744,328 		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 chr 3:33,878,948...34,101,987
Ensembl chr 3:33,878,904...34,097,764 		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 chr 1:83,470,569...83,666,200
Ensembl chr 1:83,476,816...83,666,061 		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 chr 4:48,794,770...48,901,859
Ensembl chr 4:48,796,852...48,901,548 		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 chr34:30,912,632...30,977,624
Ensembl chr34:30,912,632...30,977,583 		JBrowse link
G BDNF brain derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480 		JBrowse link
G CUX2 cut like homeobox 2 ISO ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar NCBI chr26:8,711,816...8,997,263
Ensembl chr26:8,730,435...8,993,205 		JBrowse link
G CYP2D15 cytochrome P450 family 2 subfamily D member 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16835697 NCBI chr10:23,255,259...23,259,380
Ensembl chr10:23,255,249...23,259,298 		JBrowse link
G FGF2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151 		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 chr 5:56,777,854...56,879,619
Ensembl chr 5:56,779,354...56,817,295 		JBrowse link
G HBEGF heparin binding EGF like growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr 2:35,551,248...35,563,310
Ensembl chr 2:35,551,250...35,563,043 		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 chr38:22,114,718...22,143,625
Ensembl chr38:22,130,508...22,140,813 		JBrowse link
G LGI1 leucine rich glioma inactivated 1 ISO RGD PMID:30813600 RGD:14995940 NCBI chr28:7,966,485...8,005,995
Ensembl chr28:7,966,593...8,012,313 		JBrowse link
G LIG1 DNA ligase 1 ISO RGD PMID:30813600 RGD:14995940 NCBI chr 1:108,105,523...108,143,954
Ensembl chr 1:108,105,987...108,143,953 		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 chr19:49,815,388...50,250,071
Ensembl chr19:50,186,364...50,247,398 		JBrowse link
G NES nestin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16137769 NCBI chr 7:41,296,395...41,305,641
Ensembl chr 7:41,295,989...41,303,736 		JBrowse link
G NGF nerve growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr17:52,900,647...52,901,607
Ensembl chr17:52,900,647...52,901,607 		JBrowse link
G NTF3 neurotrophin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr27:39,383,017...39,454,613
Ensembl chr27:39,383,152...39,454,601 		JBrowse link
G OXT oxytocin/neurophysin I prepropeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:4988877 PMID:6407273 NCBI chr24:18,193,381...18,194,232
Ensembl chr24:18,193,339...18,194,170 		JBrowse link
G PCDH19 protocadherin 19 ISO ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar PMID:25741868 NCBI chr  X:74,179,609...74,319,138
Ensembl chr  X:74,184,772...74,317,391 		JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:4371370 NCBI chr17:19,431,396...19,438,247
Ensembl chr17:19,431,585...19,434,440 		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 chr36:11,105,936...11,245,978
Ensembl chr36:11,108,050...11,183,496 		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 chr27:3,174,257...3,348,349
Ensembl chr27:3,176,013...3,296,482 		JBrowse link
G SLC25A24 solute carrier family 25 member 24 ISO ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar PMID:25741868 NCBI chr 6:43,424,079...43,476,861 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 chr24:12,003,005...12,081,385
Ensembl chr24:12,004,117...12,081,329 		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 chr 9:54,953,751...55,015,475
Ensembl chr 9:54,953,747...55,015,376 		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 chr13:17,525,855...17,897,153
Ensembl chr13:17,528,421...17,897,009 		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 chr17:34,615,121...34,618,480
Ensembl chr17:34,615,096...34,656,791 		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 chr17:34,534,036...34,562,733
Ensembl chr17:34,534,529...34,554,994 		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 chr34:3,880,988...3,947,127
Ensembl chr34:3,884,487...3,943,035 		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 chr34:16,654,672...16,777,493
Ensembl chr34:16,654,493...16,777,506 		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 chr38:1,570,598...1,600,524
Ensembl chr38:1,576,898...1,596,621 		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 chr 6:21,247,492...21,454,424
Ensembl chr 6:21,248,948...21,420,719 		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 chr15:56,133,094...56,353,609
Ensembl chr15:56,174,578...56,352,569 		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 chr34:17,224,136...17,238,755
Ensembl chr34:17,223,215...17,239,621 		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 chr 4:49,006,981...49,065,205
Ensembl chr 4:49,009,495...49,062,581 		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 chr 3:36,852,082...37,164,930
Ensembl chr 3:36,852,543...36,978,399 		JBrowse link
G EFHC1 EF-hand domain containing 1 ISO ClinVar Annotator: match by term: EIG7 ClinVar PMID:25741868 PMID:28166811 PMID:28492532 NCBI chr12:20,068,287...20,131,621
Ensembl chr12:20,067,881...20,131,619 		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 chr36:10,300,091...10,405,361
Ensembl chr36:10,302,191...10,377,923 		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 chr12:20,068,287...20,131,621
Ensembl chr12:20,067,881...20,131,619 		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 chr12:2,534,034...2,546,029
Ensembl chr12:2,534,034...2,546,029 		JBrowse link
G CACNA1G calcium voltage-gated channel subunit alpha1 G ISO ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar NCBI chr 9:26,481,148...26,544,511
Ensembl chr 9:26,481,652...26,544,845 		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 chr19:52,987,170...53,116,410
Ensembl chr19:52,993,618...53,116,140
Ensembl chr19:52,993,618...53,116,140 		JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar PMID:28492532 NCBI chr36:18,726,243...18,742,505
Ensembl chr36:18,726,243...18,742,505 		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 chr12:20,068,287...20,131,621
Ensembl chr12:20,067,881...20,131,619 		JBrowse link
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 ISO ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar NCBI chr 4:49,006,981...49,065,205
Ensembl chr 4:49,009,495...49,062,581 		JBrowse link
G JRK Jrk helix-turn-helix protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11463517 NCBI chr13:36,754,771...36,767,799 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 chr12:20,453,322...20,511,463
Ensembl chr12:20,450,834...20,511,673 		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 chr 6:33,385,779...33,471,348
Ensembl chr 6:33,376,996...33,471,326 		JBrowse link
G CARHSP1 calcium regulated heat stable protein 1 ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chr 6:33,338,577...33,345,125
Ensembl chr 6:33,338,571...33,343,750 		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 chr 6:32,132,070...32,678,319
Ensembl chr 6:32,303,121...32,668,960 		JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:25741868 NCBI chr27:32,470,889...32,883,606
Ensembl chr27:32,471,153...32,877,680 		JBrowse link
G HAPSTR1 HUWE1 associated protein modifying stress responses ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chr 6:33,124,932...33,151,221
Ensembl chr 6:33,126,988...33,151,466 		JBrowse link
G ITSN2 intersectin 2 ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:25741868 NCBI chr17:18,627,543...18,756,669
Ensembl chr17:18,627,935...18,756,114 		JBrowse link
G PMM2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chr 6:33,346,969...33,371,095
Ensembl chr 6:33,347,270...33,371,025 		JBrowse link
G SPTAN1 spectrin alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:54,953,751...55,015,475
Ensembl chr 9:54,953,747...55,015,376 		JBrowse link
G TMEM186 transmembrane protein 186 ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532
G USP7 ubiquitin specific peptidase 7 ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chr 6:33,277,328...33,315,601
Ensembl chr 6:33,277,444...33,314,491 		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 chr 4:48,794,770...48,901,859
Ensembl chr 4:48,796,852...48,901,548 		JBrowse link
G GATM glycine amidinotransferase ISO ClinVar Annotator: match by term: Lennox-Gastaut syndrome ClinVar NCBI chr30:11,724,446...11,742,214
Ensembl chr30:11,723,519...11,742,214 		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 chr13:28,765,472...29,062,371
Ensembl chr13:28,773,738...29,062,370 		JBrowse link
G MAPK10 mitogen-activated protein kinase 10 ISO ClinVar Annotator: match by term: Epileptic encephalopathy Lennox-Gastaut type ClinVar PMID:16249883 NCBI chr32:9,584,437...9,889,118
Ensembl chr32:9,575,492...9,884,325 		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 chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544 		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 chr36:11,105,936...11,245,978
Ensembl chr36:11,108,050...11,183,496 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Lennox-Gastaut syndrome ClinVar PMID:28492532 NCBI chr19:46,419,812...46,541,888
Ensembl chr19:46,423,998...46,542,122 		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 chr  X:74,912,223...74,919,327 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 chr  X:75,270,952...75,302,663
Ensembl chr  X:75,270,979...75,302,562 		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 chr  X:75,035,147...75,112,991
Ensembl chr  X:75,035,141...75,211,971 		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 chr  X:74,758,399...74,782,470
Ensembl chr  X:74,758,496...74,782,194 		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 chr  X:75,171,816...75,217,777
Ensembl chr  X:75,171,507...75,212,782 		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 chr  X:75,311,536...75,320,391
Ensembl chr  X:75,311,536...75,320,249 		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 chr  X:75,320,505...75,326,651
Ensembl chr  X:75,324,481...75,325,830 		JBrowse link
G LOC100687687 60S ribosomal protein L36a-like ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr 4:62,275,030...62,275,422 JBrowse link
G LOC102155800 60S ribosomal protein L36a-like ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr17:52,628,292...52,628,713 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 chr  X:74,784,627...74,811,796
Ensembl chr  X:74,785,168...74,811,698 		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 chr  X:74,179,609...74,319,138
Ensembl chr  X:74,184,772...74,317,391 		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 chr  X:74,513,473...74,536,446
Ensembl chr  X:74,513,774...74,534,910 		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 chr  X:74,537,937...74,617,580
Ensembl chr  X:74,539,183...74,565,753 		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 chr  X:75,219,448...75,238,309
Ensembl chr  X:75,220,248...75,239,041 		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 chr  X:75,267,437...75,270,288
Ensembl chr  X:75,267,450...75,270,288 		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 chr  X:75,020,157...75,033,714
Ensembl chr  X:75,020,238...75,032,525 		JBrowse link
G TNMD tenomodulin ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:74,459,111...74,475,010
Ensembl chr  X:74,459,313...74,478,170 		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 chr  X:74,921,406...75,001,373 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 chr  X:74,499,684...74,510,079
Ensembl chr  X:74,499,686...74,505,683 		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 chr  X:74,854,947...74,872,918
Ensembl chr  X:74,859,659...74,872,259 		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 chr 6:32,132,070...32,678,319
Ensembl chr 6:32,303,121...32,668,960 		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 chr 9:54,953,751...55,015,475
Ensembl chr 9:54,953,747...55,015,376 		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 chr 6:38,531,547...38,557,472 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14734
    syndrome 8837
      electroclinical syndrome 957
        absence epilepsy 127
          adolescence-adult electroclinical syndrome + 41
          childhood electroclinical syndrome + 91
Path 2
Term Annotations click to browse term
  disease 14734
    disease of anatomical entity 14414
      nervous system disease 12236
        central nervous system disease 10701
          brain disease 10034
            epilepsy 2559
              electroclinical syndrome 957
                absence epilepsy 127
                  adolescence-adult electroclinical syndrome + 41
                  childhood electroclinical syndrome + 91
paths to the root