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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 chr 7:73,426,652...73,541,746
Ensembl chr 7:73,426,638...73,541,830
JBrowse link
G Reln reelin ISO ClinVar Annotator: match by term: Absence seizures ClinVar PMID:28492532, PMID:30311386 NCBI chr 5:21,884,454...22,344,705
Ensembl chr 5:21,884,454...22,344,702
JBrowse link
G Scn1a sodium channel, voltage-gated, type I, alpha 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 chr 2:66,270,781...66,440,837
Ensembl chr 2:66,270,778...66,440,840
JBrowse link
G Scn9a sodium channel, voltage-gated, type IX, alpha ISO ClinVar Annotator: match by term: Absence seizures ClinVar PMID:25741868 NCBI chr 2:66,480,080...66,635,114
Ensembl chr 2:66,480,080...66,634,962
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 8:41,340,646...41,397,644
Ensembl chr 8:41,340,197...41,374,773
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 7:73,426,652...73,541,746
Ensembl chr 7:73,426,638...73,541,830
JBrowse link
G Cntnap2 contactin associated protein-like 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 6:45,060,061...47,301,393
Ensembl chr 6:45,059,357...47,304,213
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 1:10,295,791...10,720,053
Ensembl chr 1:10,324,720...10,719,945
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 chr10:78,425,670...78,427,622
Ensembl chr10:78,425,669...78,427,622
JBrowse link
G Depdc5 DEP domain containing 5 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:24591017, PMID:25366275, PMID:25741868, PMID:26505888, PMID:28492532, PMID:29358611 NCBI chr 5:32,863,646...32,994,233
Ensembl chr 5:32,863,701...32,994,236
JBrowse link
G Epm2a epilepsy, progressive myoclonic epilepsy, type 2 gene alpha ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr10:11,342,691...11,459,664
Ensembl chr10:11,343,404...11,459,644
JBrowse link
G Gabrg2 gamma-aminobutyric acid (GABA) A receptor, subunit gamma 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:23708187, PMID:25726841, PMID:25730860, PMID:27864268, PMID:28492532, PMID:29100083, PMID:29358611 NCBI chr11:41,910,190...42,000,857
Ensembl chr11:41,910,203...42,000,857
JBrowse link
G Grin1 glutamate receptor, ionotropic, NMDA1 (zeta 1) ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 2:25,291,177...25,319,187
Ensembl chr 2:25,291,181...25,319,187
JBrowse link
G Grin2a glutamate receptor, ionotropic, NMDA2A (epsilon 1) 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 chr16:9,567,901...9,996,083
Ensembl chr16:9,567,898...9,995,560
JBrowse link
G Ier3ip1 immediate early response 3 interacting protein 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr18:76,930,027...76,941,614
Ensembl chr18:76,930,017...76,941,612
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 chr 2:181,075,579...181,135,580
Ensembl chr 2:181,075,579...181,135,300
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 chr15:65,986,374...66,286,636
Ensembl chr15:65,986,387...66,286,642
JBrowse link
G Kcnt1 potassium channel, subfamily T, member 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868, PMID:26467025, PMID:28492532, PMID:29358611 NCBI chr 2:25,863,791...25,918,273
Ensembl chr 2:25,863,734...25,918,273
JBrowse link
G Maf avian musculoaponeurotic fibrosarcoma oncogene homolog ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532, PMID:29358611 NCBI chr 8:115,703,253...115,706,894
Ensembl chr 8:115,682,942...115,707,794
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:133,582,860...133,689,044
Ensembl chr  X:133,582,860...133,688,987
JBrowse link
G Plcb1 phospholipase C, beta 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 2:134,786,164...135,475,258
Ensembl chr 2:134,786,067...135,475,258
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 chr15:93,499,111...93,596,266
Ensembl chr15:93,499,114...93,595,891
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 6:92,370,891...92,706,334
Ensembl chr 6:92,370,908...92,706,155
JBrowse link
G Rbfox1 RNA binding protein, fox-1 homolog (C. elegans) 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:26467025, PMID:28346479, PMID:28492532, PMID:29358611 NCBI chr16:5,884,793...7,412,480
Ensembl chr16:5,885,355...7,411,526
JBrowse link
G Rbfox3 RNA binding protein, fox-1 homolog (C. elegans) 3 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr11:118,489,760...118,911,597
Ensembl chr11:118,489,762...118,911,597
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 5:21,884,454...22,344,705
Ensembl chr 5:21,884,454...22,344,702
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 5:92,441,311...92,505,657
Ensembl chr 5:92,441,314...92,506,833
JBrowse link
G Scn1a sodium channel, voltage-gated, type I, alpha 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 chr 2:66,270,781...66,440,837
Ensembl chr 2:66,270,778...66,440,840
JBrowse link
G Scn1b sodium channel, voltage-gated, type I, beta ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 7:31,116,524...31,127,023
Ensembl chr 7:31,116,524...31,127,003
JBrowse link
G Scn2a sodium channel, voltage-gated, type II, alpha ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868, PMID:28492532, PMID:29358611 NCBI chr 2:65,620,764...65,767,447
Ensembl chr 2:65,620,771...65,767,447
JBrowse link
G Scn9a sodium channel, voltage-gated, type IX, alpha 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 chr 2:66,480,080...66,635,114
Ensembl chr 2:66,480,080...66,634,962
JBrowse link
G Slc2a1 solute carrier family 2 (facilitated glucose transporter), member 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 4:119,108,745...119,137,330
Ensembl chr 4:119,108,711...119,137,983
JBrowse link
G Slc6a1 solute carrier family 6 (neurotransmitter transporter, GABA), member 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 6:114,282,635...114,317,525
Ensembl chr 6:114,282,635...114,317,532
JBrowse link
G Snip1 Smad nuclear interacting protein 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 4:125,066,672...125,074,043
Ensembl chr 4:125,066,672...125,074,042
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 2:29,965,560...30,031,451
Ensembl chr 2:29,965,560...30,031,451
JBrowse link
G Strada STE20-related kinase adaptor alpha ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr11:106,162,974...106,193,634
Ensembl chr11:106,163,330...106,202,168
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 4:118,362,740...118,409,286
Ensembl chr 4:118,362,743...118,409,273
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 chr17:24,175,431...24,205,562
Ensembl chr17:24,175,431...24,205,562
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 8:114,439,635...115,352,712
Ensembl chr 8:114,439,655...115,352,708
JBrowse link
childhood absence epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1a calcium channel, voltage-dependent, P/Q type, alpha 1A subunit ISO DNA:mutation:cds:752T>A (p.M251K)(rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:17196942, PMID:17196942 RGD:1598976 NCBI chr 8:84,338,631...84,640,251
Ensembl chr 8:84,338,639...84,640,246
JBrowse link
G Cacna1h calcium channel, voltage-dependent, T type, alpha 1H subunit susceptibility ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 6
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 6
ClinVar
CTD
OMIM
PMID:12891677, PMID:14729682, PMID:15048902, PMID:15852375, PMID:15888660, PMID:17696120, PMID:25741868, PMID:26467025, PMID:28492532, PMID:12891677 RGD:1358447 NCBI chr17:25,374,285...25,436,334
Ensembl chr17:25,374,285...25,433,783
JBrowse link
G Cacna2d2 calcium channel, voltage-dependent, alpha 2/delta subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14660671 NCBI chr 9:107,399,733...107,529,346
Ensembl chr 9:107,399,612...107,529,343
JBrowse link
G Cacng2 calcium channel, voltage-dependent, gamma subunit 2 ISO mRNA,protein:increased expression:somatosensory cortex, primary motor cortex RGD PMID:18556211 RGD:13524553 NCBI chr15:77,991,919...78,120,220
Ensembl chr15:77,991,748...78,120,028
JBrowse link
G Cacng3 calcium channel, voltage-dependent, gamma subunit 3 ISO RGD PMID:11904235 RGD:728397 NCBI chr 7:122,671,744...122,769,393
Ensembl chr 7:122,670,492...122,769,393
JBrowse link
G Efhc1 EF-hand domain (C-terminal) containing 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:20,951,553...20,990,841
Ensembl chr 1:20,951,626...20,990,841
JBrowse link
G Gabra1 gamma-aminobutyric acid (GABA) A receptor, subunit alpha 1 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 chr11:42,130,939...42,183,066
Ensembl chr11:42,130,939...42,182,930
JBrowse link
G Gabra6 gamma-aminobutyric acid (GABA) A receptor, subunit alpha 6 ISO ClinVar Annotator: match by term: Childhood absence epilepsy ClinVar PMID:28492532 NCBI chr11:42,306,437...42,321,072
Ensembl chr11:42,306,437...42,321,072
JBrowse link
G Gabrb3 gamma-aminobutyric acid (GABA) A receptor, subunit beta 3 susceptibility ISO DNA:SNPs
ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:612269
OMIM
ClinVar
CTD
PMID:18514161, PMID:19935738, PMID:20550555, PMID:24088041, PMID:25726841, PMID:25741868, PMID:26467025, PMID:26633545, PMID:26845707, PMID:26950270, PMID:28492532, PMID:16835263 RGD:1601269 NCBI chr 7:57,590,518...57,828,802
Ensembl chr 7:57,419,692...57,828,802
JBrowse link
G Gabrg2 gamma-aminobutyric acid (GABA) A receptor, subunit gamma 2 ISO DNA:snp:intron:IVS6+2T>G (human) RGD PMID:12117362 RGD:1358631 NCBI chr11:41,910,190...42,000,857
Ensembl chr11:41,910,203...42,000,857
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO protein:increased expression:thalamus RGD PMID:10975907 RGD:6484590 NCBI chr14:34,310,727...34,345,033
Ensembl chr14:34,310,727...34,345,265
JBrowse link
G Grik1 glutamate receptor, ionotropic, kainate 1 ISO RGD PMID:9259378 RGD:1358334 NCBI chr16:87,895,901...88,290,863
Ensembl chr16:87,895,900...88,290,265
JBrowse link
G Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO RGD PMID:15182313 RGD:9686420 NCBI chr13:117,602,320...117,981,028
Ensembl chr13:117,602,320...117,987,418
JBrowse link
G Htr7 5-hydroxytryptamine (serotonin) receptor 7 ISO RGD PMID:15050708 RGD:6480686 NCBI chr19:35,958,415...36,058,133
Ensembl chr19:35,958,734...36,057,507
JBrowse link
G Jrk jerky ISO CTD Direct Evidence: marker/mechanism CTD PMID:11463517 NCBI chr15:74,702,412...74,709,322
Ensembl chr15:74,702,301...74,709,535
JBrowse link
G Kcnk9 potassium channel, subfamily K, member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15781965 NCBI chr15:72,501,873...72,548,614
Ensembl chr15:72,501,089...72,546,340
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 7:31,058,909...31,070,935
Ensembl chr 7:31,059,342...31,070,935
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:20303372 RGD:8547934 NCBI chr 2:164,940,326...164,955,850
Ensembl chr 2:164,940,780...164,955,850
JBrowse link
G Npy neuropeptide Y treatment ISO RGD PMID:17331209, PMID:24039965 RGD:10448963, RGD:10448964 NCBI chr 6:49,822,710...49,829,507
Ensembl chr 6:49,822,710...49,829,507
JBrowse link
G Npy1r neuropeptide Y receptor Y1 treatment ISO RGD PMID:17331209 RGD:10448963 NCBI chr 8:66,697,149...66,706,800
Ensembl chr 8:66,697,192...66,706,792
JBrowse link
G Npy2r neuropeptide Y receptor Y2 treatment ISO RGD PMID:17331209 RGD:10448963 NCBI chr 3:82,538,383...82,548,989
Ensembl chr 3:82,538,383...82,548,084
JBrowse link
G Npy5r neuropeptide Y receptor Y5 treatment ISO RGD PMID:17331209 RGD:10448963 NCBI chr 8:66,679,965...66,688,094
Ensembl chr 8:66,679,965...66,688,128
JBrowse link
G Scn1b sodium channel, voltage-gated, type I, beta ISO ClinVar Annotator: match by term: Childhood absence epilepsy ClinVar PMID:25741868, PMID:28492532 NCBI chr 7:31,116,524...31,127,023
Ensembl chr 7:31,116,524...31,127,003
JBrowse link
G Slc2a1 solute carrier family 2 (facilitated glucose transporter), member 1 onset ISO DNA:deletion, missense mutations, SNP:multiple RGD PMID:26537434 RGD:11058811 NCBI chr 4:119,108,745...119,137,330
Ensembl chr 4:119,108,711...119,137,983
JBrowse link
G Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide ISO protein:increased expression:parietal lobe RGD PMID:21310218 RGD:9587483 NCBI chr15:36,770,261...36,802,984
Ensembl chr15:36,770,770...36,796,929
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, class V, type 10A ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 1 ClinVar PMID:11198279, PMID:28492532 NCBI chr 7:58,656,142...58,830,244
Ensembl chr 7:58,656,166...58,829,420
JBrowse link
G Gabra5 gamma-aminobutyric acid (GABA) A receptor, subunit alpha 5 ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 1 ClinVar PMID:11198279, PMID:28492532 NCBI chr 7:57,407,669...57,591,016
Ensembl chr 7:57,407,672...57,510,059
JBrowse link
G Gabrb3 gamma-aminobutyric acid (GABA) A receptor, subunit beta 3 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 chr 7:57,590,518...57,828,802
Ensembl chr 7:57,419,692...57,828,802
JBrowse link
G Rorb RAR-related orphan receptor beta ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 1 ClinVar PMID:25950944 NCBI chr19:18,930,609...19,111,196
Ensembl chr19:18,930,605...19,111,196
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 (GABA) A receptor, subunit gamma 2 ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 2 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 chr11:41,910,190...42,000,857
Ensembl chr11:41,910,203...42,000,857
JBrowse link
childhood electroclinical syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1a calcium channel, voltage-dependent, P/Q type, alpha 1A subunit IEA MouseDO NCBI chr 8:84,338,631...84,640,251
Ensembl chr 8:84,338,639...84,640,246
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, alpha 3 polypeptide 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 chr 7:24,978,167...25,006,077
Ensembl chr 7:24,978,167...25,005,958
JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15121994 NCBI chr 3:73,635,805...73,708,436
Ensembl chr 3:73,635,808...73,708,415
JBrowse link
G Bdnf brain derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr 2:109,674,700...109,727,043
Ensembl chr 2:109,674,700...109,727,007
JBrowse link
G Cyp2d22 cytochrome P450, family 2, subfamily d, polypeptide 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16835697 NCBI chr15:82,370,527...82,380,260
Ensembl chr15:82,370,527...82,380,260
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr 3:37,348,477...37,410,106
Ensembl chr 3:37,348,346...37,410,108
JBrowse link
G Hbegf heparin-binding EGF-like growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr18:36,504,927...36,515,805
Ensembl chr18:36,504,927...36,515,805
JBrowse link
G Kcnc1 potassium voltage gated channel, Shaw-related subfamily, member 1 ISO ClinVar Annotator: match by term: Tonic-clonic convulsions ClinVar PMID:30311386 NCBI chr 7:46,396,219...46,438,706
Ensembl chr 7:46,396,497...46,438,704
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 1:172,341,210...172,374,085
Ensembl chr 1:172,341,210...172,374,085
JBrowse link
G Lgi1 leucine-rich repeat LGI family, member 1 ISO RGD PMID:30813600 RGD:14995940 NCBI chr19:38,264,687...38,308,939
Ensembl chr19:38,264,536...38,312,214
JBrowse link
G Lig1 ligase I, DNA, ATP-dependent ISO RGD PMID:30813600 RGD:14995940 NCBI chr 7:13,277,175...13,311,426
Ensembl chr 7:13,277,283...13,311,433
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 chr 2:48,949,499...49,319,688
Ensembl chr 2:48,949,508...49,325,405
JBrowse link
G Nes nestin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16137769 NCBI chr 3:87,971,093...87,980,451
Ensembl chr 3:87,971,078...87,980,451
JBrowse link
G Ngf nerve growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr 3:102,469,919...102,521,013
Ensembl chr 3:102,469,919...102,521,013
JBrowse link
G Ntf3 neurotrophin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr 6:126,101,412...126,166,772
Ensembl chr 6:126,101,412...126,166,910
JBrowse link
G Oxt oxytocin ISO CTD Direct Evidence: marker/mechanism CTD PMID:4988877, PMID:6407273 NCBI chr 2:130,574,519...130,577,054
Ensembl chr 2:130,576,173...130,577,054
JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Tonic-clonic convulsions ClinVar NCBI chr  X:133,582,860...133,689,044
Ensembl chr  X:133,582,860...133,688,987
JBrowse link
G Pomc pro-opiomelanocortin-alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:4371370 NCBI chr12:3,954,945...3,960,643
Ensembl chr12:3,954,951...3,960,642
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 9:110,385,084...110,408,210
Ensembl chr 9:110,385,082...110,408,213
JBrowse link
G Scn1a sodium channel, voltage-gated, type I, alpha 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 chr 2:66,270,781...66,440,837
Ensembl chr 2:66,270,778...66,440,840
JBrowse link
G Scn8a sodium channel, voltage-gated, type VIII, alpha ISO ClinVar Annotator: match by term: Tonic-clonic convulsions ClinVar PMID:25741868 NCBI chr15:100,869,863...101,045,938
Ensembl chr15:100,869,858...101,045,938
JBrowse link
G Slc25a24 solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 24 ISO ClinVar Annotator: match by term: Tonic-clonic convulsions ClinVar PMID:25741868 NCBI chr 3:109,123,149...109,168,409
Ensembl chr 3:109,123,149...109,168,457
JBrowse link
G Sox2 SRY (sex determining region Y)-box 2 ISO ClinVar Annotator: match by term: Tonic-clonic convulsions ClinVar PMID:30311386 NCBI chr 3:34,649,995...34,652,461
Ensembl chr 3:34,650,405...34,652,461
JBrowse link
G Sox2ot SOX2 overlapping transcript (non-protein coding) ISO ClinVar Annotator: match by term: Tonic-clonic convulsions ClinVar PMID:30311386 NCBI chr 3:34,560,381...34,677,993
Ensembl chr 3:34,104,270...34,682,619
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 2:29,965,560...30,031,451
Ensembl chr 2:29,965,560...30,031,451
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
PMID:29507423, PMID:29939203 NCBI chr15:53,399,113...53,902,535
Ensembl chr15:53,453,810...53,902,537
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 START domain containing 7 ISO OMIM NCBI chr 2:127,270,202...127,298,935
Ensembl chr 2:127,270,218...127,298,932
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 chr15:31,455,899...31,531,082
Ensembl chr15:31,455,891...31,531,053
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 chr16:20,141,053...20,232,573
Ensembl chr16:20,141,063...20,232,573
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
ClinVar Annotator: match by OMIM:615400
OMIM
ClinVar
PMID:23518707, PMID:25741868, PMID:28492532 NCBI chr 1:132,509,425...132,543,251
Ensembl chr 1:132,509,427...132,543,256
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 6a ISO ClinVar Annotator: match by term: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6 ClinVar
OMIM
PMID:29507423 NCBI chr 7:123,031,101...123,195,296
Ensembl chr 7:123,123,885...123,195,296
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 (GEF) 2 ISO ClinVar Annotator: match by term: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 7 ClinVar
OMIM
PMID:29507423 NCBI chr 3:79,062,511...79,286,545
Ensembl chr 3:79,062,516...79,286,517
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 channel, voltage-sensitive 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
OMIM
PMID:12612585, PMID:15252188, PMID:15505175, PMID:16932951, PMID:17567819, PMID:19191339, PMID:19710712, PMID:21703448, PMID:25741868 NCBI chr16:20,702,435...20,717,746
Ensembl chr16:20,702,964...20,717,746
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 (GABA) A receptor, subunit alpha 1 susceptibility ISO ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 ClinVar
OMIM
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 chr11:42,130,939...42,183,066
Ensembl chr11:42,130,939...42,182,930
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 polypeptide 7 ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized 7 ClinVar PMID:25326635, PMID:25741868 NCBI chr 7:63,098,692...63,212,526
Ensembl chr 7:63,098,692...63,212,569
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 (C-terminal) 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 1:20,951,553...20,990,841
Ensembl chr 1:20,951,626...20,990,841
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 chr17:34,112,019...34,122,814
Ensembl chr17:34,112,023...34,122,634
JBrowse link
G Cacna1g calcium channel, voltage-dependent, T type, alpha 1G subunit ISO ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar NCBI chr11:94,408,391...94,474,400
Ensembl chr11:94,408,391...94,474,198
JBrowse link
G Cacnb4 calcium channel, voltage-dependent, beta 4 subunit 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 chr 2:52,428,320...52,676,609
Ensembl chr 2:52,428,320...52,676,831
JBrowse link
G Chrna1 cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle) ISO ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar PMID:28492532 NCBI chr 2:73,563,281...73,580,338
Ensembl chr 2:73,563,215...73,580,338
JBrowse link
G Efhc1 EF-hand domain (C-terminal) containing 1 susceptibility ISO
IEA
ClinVar Annotator: match by OMIM:254770
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Myoclonic epilepsy, juvenile 1
OMIM:254770 | OMIM:608816 | OMIM:611364 | OMIM:614280
ClinVar
CTD
OMIM
MouseDO
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 1:20,951,553...20,990,841
Ensembl chr 1:20,951,626...20,990,841
JBrowse link
G Gabra1 gamma-aminobutyric acid (GABA) A receptor, subunit alpha 1 ISO ClinVar Annotator: match by term: Juvenile myoclonic epilepsy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr11:42,130,939...42,183,066
Ensembl chr11:42,130,939...42,182,930
JBrowse link
G Jrk jerky ISO CTD Direct Evidence: marker/mechanism CTD PMID:11463517 NCBI chr15:74,702,412...74,709,322
Ensembl chr15:74,702,301...74,709,535
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 9:78,109,080...78,172,114
Ensembl chr 9:78,109,192...78,172,107
JBrowse link
Landau-Kleffner syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grin2a glutamate receptor, ionotropic, NMDA2A (epsilon 1) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: APHASIA, ACQUIRED, WITH EPILEPSY
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 chr16:9,567,901...9,996,083
Ensembl chr16:9,567,898...9,995,560
JBrowse link
Lennox-Gastaut syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dgkd diacylglycerol kinase, delta IEA OMIM:606369 MouseDO NCBI chr 1:87,853,264...87,945,177
Ensembl chr 1:87,853,287...87,945,180
JBrowse link
G Gabrg2 gamma-aminobutyric acid (GABA) A receptor, subunit gamma 2 ISO ClinVar Annotator: match by term: Lennox-Gastaut syndrome ClinVar PMID:24407264, PMID:25741868, PMID:27066572, PMID:28492532 NCBI chr11:41,910,190...42,000,857
Ensembl chr11:41,910,203...42,000,857
JBrowse link
G Gatm glycine amidinotransferase (L-arginine:glycine amidinotransferase) ISO ClinVar Annotator: match by term: Lennox-Gastaut syndrome ClinVar NCBI chr 2:122,594,473...122,611,277
Ensembl chr 2:122,594,467...122,611,303
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 chr15:65,986,374...66,286,636
Ensembl chr15:65,986,387...66,286,642
JBrowse link
G Mapk10 mitogen-activated protein kinase 10 ISO ClinVar Annotator: match by synonym: MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY ClinVar PMID:16249883 NCBI chr 5:102,908,547...103,212,604
Ensembl chr 5:102,907,948...103,211,334
JBrowse link
G Polg polymerase (DNA directed), gamma 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 chr 7:79,446,231...79,467,911
Ensembl chr 7:79,446,231...79,466,362
JBrowse link
G Scn1a sodium channel, voltage-gated, type I, alpha 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 chr 2:66,270,781...66,440,837
Ensembl chr 2:66,270,778...66,440,840
JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Lennox-Gastaut syndrome ClinVar PMID:28492532 NCBI chr 2:44,983,512...45,117,442
Ensembl chr 2:44,983,632...45,117,395
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 receptor, ionotropic, NMDA2A (epsilon 1) 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 chr16:9,567,901...9,996,083
Ensembl chr16:9,567,898...9,995,560
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 ClinVar Annotator: match by term: Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked
ClinVar Annotator: match by term: X-linked rolandic epilepsy with mental retardation and speech dyspraxia
ClinVar Annotator: match by OMIM:300643
OMIM
ClinVar
PMID:16497722, PMID:18718938, PMID:23831613, PMID:23871722, PMID:23933820, PMID:24995671, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr  X:133,908,416...133,932,448
Ensembl chr  X:133,908,426...133,932,446
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
ClinVar Annotator: match by term: Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp
OMIM
ClinVar
PMID:10072049, PMID:27281533, PMID:28492532, PMID:30108545, PMID:31112829, PMID:31257402 NCBI chr17:24,175,431...24,205,562
Ensembl chr17:24,175,431...24,205,562
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13395
    syndrome 6524
      electroclinical syndrome 395
        absence epilepsy 101
          adolescence-adult electroclinical syndrome + 41
          childhood electroclinical syndrome + 67
Path 2
Term Annotations click to browse term
  disease 13395
    disease of anatomical entity 12871
      nervous system disease 10430
        central nervous system disease 8793
          brain disease 8131
            epilepsy 1511
              electroclinical syndrome 395
                absence epilepsy 101
                  adolescence-adult electroclinical syndrome + 41
                  childhood electroclinical syndrome + 67
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.