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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 IAGP ClinVar Annotator: match by term: Absence seizures ClinVar PMID:30311386 NCBI chr15:92,900,324...93,027,996
Ensembl chr15:92,900,189...93,027,996
JBrowse link
G RELN reelin IAGP ClinVar Annotator: match by term: Absence seizures ClinVar PMID:28492532, PMID:30311386 NCBI chr 7:103,471,789...103,989,658
Ensembl chr 7:103,471,784...103,989,658
JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP 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 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214
JBrowse link
G SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 IAGP 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 2:165,957,418...166,036,400
Ensembl chr 2:165,957,188...166,390,771
JBrowse link
G SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 IAGP ClinVar Annotator: match by term: Absence seizures ClinVar PMID:25741868 NCBI chr 2:166,081,531...166,301,784
Ensembl chr 2:165,957,188...166,390,771
JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 IAGP ClinVar Annotator: match by term: Absence seizures ClinVar PMID:25741868 NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001
JBrowse link
benign epilepsy with centrotemporal spikes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AC005064.1 novel transcript, antisense to RELN and SLC26A5 IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868, PMID:28492532, PMID:29358611, PMID:30311386 NCBI chr 7:103,445,207...103,514,007
Ensembl chr 7:103,445,207...103,514,007
JBrowse link
G ARFGEF1-DT ARFGEF1 divergent transcript IAGP 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 8:67,343,834...67,491,868 JBrowse link
G ASAH1 N-acylsphingosine amidohydrolase 1 IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:26467025, PMID:29358611 NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998
JBrowse link
G CHD2 chromodomain helicase DNA binding protein 2 IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868, PMID:28492532, PMID:29358611 NCBI chr15:92,900,324...93,027,996
Ensembl chr15:92,900,189...93,027,996
JBrowse link
G CNTNAP2 contactin associated protein 2 IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:18179895, PMID:22872700, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29358611, PMID:29788201 NCBI chr 7:146,116,207...148,420,998
Ensembl chr 7:146,116,002...148,420,998
JBrowse link
G CPA6 carboxypeptidase A6 IAGP 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 8:67,422,038...67,747,114
Ensembl chr 8:67,422,038...67,746,378
JBrowse link
G CSTB cystatin B IAGP 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 chr21:43,773,950...43,776,308
Ensembl chr21:43,772,511...43,776,330
Ensembl chr21:43,772,511...43,776,330
Ensembl chr21:43,772,511...43,776,330
JBrowse link
G DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:24591017, PMID:25366275, PMID:25741868, PMID:26505888, PMID:28492532, PMID:29358611 NCBI chr22:31,753,968...31,908,033
Ensembl chr22:31,753,867...31,908,033
JBrowse link
G EPM2A EPM2A glucan phosphatase, laforin IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 6:145,382,540...145,736,023
Ensembl chr 6:145,382,535...145,736,023
JBrowse link
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:23708187, PMID:25726841, PMID:25730860, PMID:27864268, PMID:28492532, PMID:29100083, PMID:29358611 NCBI chr 5:162,067,465...162,155,539
Ensembl chr 5:162,000,057...162,162,977
JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 9:137,139,092...137,168,759
Ensembl chr 9:137,139,154...137,168,756
JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A EXP
IAGP
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 chr16:9,753,404...10,182,928
Ensembl chr16:9,753,404...10,182,928
Ensembl chr16:9,753,404...10,182,928
JBrowse link
G IER3IP1 immediate early response 3 interacting protein 1 IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr18:47,152,834...47,176,364
Ensembl chr18:47,152,834...47,176,364
JBrowse link
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 IAGP ClinVar Annotator: match by term: Benign Rolandic epilepsy ClinVar PMID:18625963 NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,210...63,472,677
JBrowse link
G KCNQ3 potassium voltage-gated channel subfamily Q member 3 IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:18625963, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29358611 NCBI chr 8:132,120,858...132,481,095
Ensembl chr 8:132,120,859...132,481,095
JBrowse link
G KCNT1 potassium sodium-activated channel subfamily T member 1 IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868, PMID:26467025, PMID:28492532, PMID:29358611 NCBI chr 9:135,702,185...135,795,502
Ensembl chr 9:135,702,185...135,795,508
JBrowse link
G MAF MAF bZIP transcription factor IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532, PMID:29358611 NCBI chr16:79,202,624...79,601,952
Ensembl chr16:79,585,843...79,600,737
JBrowse link
G PCDH19 protocadherin 19 IAGP 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:100,291,644...100,410,273
Ensembl chr  X:100,291,644...100,410,273
JBrowse link
G PLCB1 phospholipase C beta 1 IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr20:8,132,266...8,884,900
Ensembl chr20:8,077,251...8,968,360
JBrowse link
G PRICKLE1 prickle planar cell polarity protein 1 IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:21901791, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29358611 NCBI chr12:42,456,757...42,589,755
Ensembl chr12:42,456,757...42,590,355
JBrowse link
G PRICKLE2 prickle planar cell polarity protein 2 IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532, PMID:29358611 NCBI chr 3:64,092,236...64,445,476
Ensembl chr 3:64,092,236...64,445,476
JBrowse link
G RBFOX1 RNA binding fox-1 homolog 1 IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:26467025, PMID:28346479, PMID:28492532, PMID:29358611 NCBI chr16:5,239,752...7,713,343
Ensembl chr16:5,239,802...7,713,340
JBrowse link
G RBFOX3 RNA binding fox-1 homolog 3 IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr17:79,089,345...79,665,600
Ensembl chr17:79,089,345...79,516,148
JBrowse link
G RELN reelin IAGP 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 7:103,471,789...103,989,658
Ensembl chr 7:103,471,784...103,989,658
JBrowse link
G SCARB2 scavenger receptor class B member 2 IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868, PMID:28492532, PMID:29358611 NCBI chr 4:76,158,737...76,213,824
Ensembl chr 4:76,158,737...76,234,536
JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP 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 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214
JBrowse link
G SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 IAGP ClinVar Annotator: match by term: Rolandic epilepsy 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 2:165,957,418...166,036,400
Ensembl chr 2:165,957,188...166,390,771
JBrowse link
G SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 IAGP 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 2:166,081,531...166,301,784
Ensembl chr 2:165,957,188...166,390,771
JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449
JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868, PMID:28492532, PMID:29358611 NCBI chr 2:165,208,056...165,392,310
Ensembl chr 2:165,194,993...165,392,310
JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 IAGP 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 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001
JBrowse link
G SIK1B salt inducible kinase 1B (putative) IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr21:6,111,131...6,123,778
Ensembl chr21:6,111,131...6,123,778
JBrowse link
G SLC2A1 solute carrier family 2 member 1 IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893
Ensembl chr 1:42,925,353...42,958,893
JBrowse link
G SLC6A1 solute carrier family 6 member 1 IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 3:10,992,748...11,039,247
Ensembl chr 3:10,992,186...11,039,247
JBrowse link
G SNIP1 Smad nuclear interacting protein 1 IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 1:37,534,449...37,554,293
Ensembl chr 1:37,534,449...37,554,293
JBrowse link
G SPTAN1 spectrin alpha, non-erythrocytic 1 IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25224718, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29358611 NCBI chr 9:128,552,564...128,633,662
Ensembl chr 9:128,552,558...128,633,662
JBrowse link
G STRADA STE20 related adaptor alpha IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr17:63,702,832...63,741,986
Ensembl chr17:63,682,336...63,741,986
JBrowse link
G SZT2 SZT2 subunit of KICSTOR complex IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532, PMID:29358611, PMID:30311386 NCBI chr 1:43,389,884...43,454,247
Ensembl chr 1:43,389,882...43,454,247
JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:24033266, PMID:26467025, PMID:28492532, PMID:29358611 NCBI chr16:2,475,104...2,509,669
Ensembl chr16:2,475,051...2,509,560
JBrowse link
G WWOX WW domain containing oxidoreductase IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868, PMID:26467025, PMID:28492532, PMID:29358611 NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,430...79,212,667
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
EXP
DNA:mutation:cds:752T>A (p.M251K)(rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:17196942, PMID:17196942 RGD:1598976 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025
JBrowse link
G CACNA1H calcium voltage-gated channel subunit alpha1 H susceptibility IAGP
EXP
ClinVar Annotator: match by term: Epilepsy, childhood absence 6
ClinVar Annotator: match by term: CACNA1H-related disorder
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 chr16:1,153,106...1,221,769
Ensembl chr16:1,153,106...1,221,771
JBrowse link
G CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:14660671 NCBI chr 3:50,362,613...50,504,244
Ensembl chr 3:50,362,799...50,504,244
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 chr22:36,560,857...36,703,752
Ensembl chr22:36,563,921...36,703,558
JBrowse link
G CACNG3 calcium voltage-gated channel auxiliary subunit gamma 3 IAGP RGD PMID:11904235 RGD:728397 NCBI chr16:24,256,335...24,362,412
Ensembl chr16:24,255,553...24,362,801
Ensembl chr16:24,255,553...24,362,801
JBrowse link
G EFHC1 EF-hand domain containing 1 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:52,420,342...52,497,198
Ensembl chr 6:52,362,123...52,529,886
JBrowse link
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 IAGP 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 5:161,847,191...161,899,971
Ensembl chr 5:161,847,063...161,899,981
JBrowse link
G GABRA6 gamma-aminobutyric acid type A receptor subunit alpha6 IAGP ClinVar Annotator: match by term: Childhood absence epilepsy ClinVar PMID:28492532 NCBI chr 5:161,685,721...161,702,592
Ensembl chr 5:161,547,063...161,702,593
JBrowse link
G GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 susceptibility IAGP
EXP
DNA:SNPs
ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
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 chr15:26,543,552...26,773,763
Ensembl chr15:26,543,546...26,939,539
JBrowse link
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 IAGP DNA:snp:intron:IVS6+2T>G (human) RGD PMID:12117362 RGD:1358631 NCBI chr 5:162,067,465...162,155,539
Ensembl chr 5:162,000,057...162,162,977
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO protein:increased expression:thalamus RGD PMID:10975907 RGD:6484590 NCBI chr10:87,050,202...87,094,843
Ensembl chr10:87,050,202...87,094,843
JBrowse link
G GRIK1 glutamate ionotropic receptor kainate type subunit 1 IAGP RGD PMID:9259378 RGD:1358334 NCBI chr21:29,536,933...29,939,996
Ensembl chr21:29,536,933...29,940,033
JBrowse link
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO RGD PMID:15182313 RGD:9686420 NCBI chr 5:45,254,948...45,696,380
Ensembl chr 5:45,254,948...45,696,498
JBrowse link
G HTR7 5-hydroxytryptamine receptor 7 ISO RGD PMID:15050708 RGD:6480686 NCBI chr10:90,738,693...90,858,039
Ensembl chr10:90,740,823...90,858,039
JBrowse link
G JRK Jrk helix-turn-helix protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:11463517 NCBI chr 8:142,651,501...142,669,983
Ensembl chr 8:142,657,460...142,681,968
JBrowse link
G KCNK9 potassium two pore domain channel subfamily K member 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15781965 NCBI chr 8:139,600,838...139,703,135
Ensembl chr 8:139,600,838...139,704,109
JBrowse link
G LGI4 leucine rich repeat LGI family member 4 IAGP DNA:point mutation: :c.1914G>A (human) RGD PMID:14505228 RGD:1302591 NCBI chr19:35,124,513...35,135,059
Ensembl chr19:35,124,513...35,142,451
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:20303372 RGD:8547934 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G NPY neuropeptide Y treatment IDA
ISO
RGD PMID:17331209, PMID:24039965 RGD:10448963, RGD:10448964 NCBI chr 7:24,284,190...24,291,862
Ensembl chr 7:24,284,188...24,291,862
JBrowse link
G NPY1R neuropeptide Y receptor Y1 treatment ISO RGD PMID:17331209 RGD:10448963 NCBI chr 4:163,323,962...163,344,832
Ensembl chr 4:163,323,962...163,344,832
JBrowse link
G NPY2R neuropeptide Y receptor Y2 treatment ISO RGD PMID:17331209 RGD:10448963 NCBI chr 4:155,173,723...155,217,076
Ensembl chr 4:155,208,636...155,217,078
JBrowse link
G NPY5R neuropeptide Y receptor Y5 treatment ISO RGD PMID:17331209 RGD:10448963 NCBI chr 4:163,336,968...163,352,277
Ensembl chr 4:163,343,892...163,351,934
JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 IAGP ClinVar Annotator: match by term: Childhood absence epilepsy ClinVar PMID:25741868, PMID:28492532 NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449
JBrowse link
G SLC2A1 solute carrier family 2 member 1 onset IAGP DNA:deletion, missense mutations, SNP:multiple RGD PMID:26537434 RGD:11058811 NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893
Ensembl chr 1:42,925,353...42,958,893
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 8:100,916,523...100,954,068
Ensembl chr 8:100,916,523...100,953,388
JBrowse link
Childhood Absence Epilepsy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AL355674.1 novel transcript IAGP ClinVar Annotator: match by term: Epilepsy, childhood absence 1 ClinVar PMID:25950944 NCBI chr 9:74,371,531...74,383,530
Ensembl chr 9:74,371,335...74,384,578
JBrowse link
G ATP10A ATPase phospholipid transporting 10A (putative) IAGP ClinVar Annotator: match by term: Epilepsy, childhood absence 1 ClinVar PMID:11198279, PMID:28492532 NCBI chr15:25,672,241...25,865,144
Ensembl chr15:25,677,271...25,865,184
Ensembl chr15:25,677,271...25,865,184
JBrowse link
G GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 IAGP ClinVar Annotator: match by term: Epilepsy, childhood absence 1 ClinVar PMID:11198279, PMID:28492532 NCBI chr15:26,866,719...26,949,208
Ensembl chr15:26,866,911...26,949,208
JBrowse link
G GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 IAGP 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 chr15:26,543,552...26,773,763
Ensembl chr15:26,543,546...26,939,539
JBrowse link
G MIR6130 microRNA 6130 IAGP ClinVar Annotator: match by term: Epilepsy, childhood absence 1 ClinVar PMID:25950944 NCBI chr21:23,079,284...23,079,392
Ensembl chr21:23,079,284...23,079,392
JBrowse link
G RORB RAR related orphan receptor B IAGP ClinVar Annotator: match by term: Epilepsy, childhood absence 1 ClinVar PMID:25950944 NCBI chr 9:74,497,335...74,693,177
Ensembl chr 9:74,497,335...74,693,177
JBrowse link
G RORB-AS1 RORB antisense RNA 1 IAGP ClinVar Annotator: match by term: Epilepsy, childhood absence 1 ClinVar PMID:25950944 NCBI chr 9:74,473,435...74,498,553
Ensembl chr 9:74,485,551...74,499,127
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 IAGP 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 5:162,067,465...162,155,539
Ensembl chr 5:162,000,057...162,162,977
JBrowse link
childhood electroclinical syndrome 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 ISS MouseDO NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025
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 IAGP 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 chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497
JBrowse link
G BCHE butyrylcholinesterase EXP CTD Direct Evidence: marker/mechanism CTD PMID:15121994 NCBI chr 3:165,772,904...165,837,423
Ensembl chr 3:165,772,904...165,837,462
JBrowse link
G BDNF brain derived neurotrophic factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
JBrowse link
G CYP2D6 cytochrome P450 family 2 subfamily D member 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16835697 NCBI chr22:42,126,499...42,130,810
Ensembl chr22:42,126,499...42,130,881
JBrowse link
G FGF2 fibroblast growth factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr 4:122,826,708...122,898,236
Ensembl chr 4:122,826,708...122,898,236
JBrowse link
G HBEGF heparin binding EGF like growth factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr 5:140,332,843...140,346,603
Ensembl chr 5:140,332,843...140,346,603
JBrowse link
G KCNC1 potassium voltage-gated channel subfamily C member 1 IAGP ClinVar Annotator: match by term: Tonic-clonic convulsions ClinVar PMID:30311386 NCBI chr11:17,734,781...17,783,057
Ensembl chr11:17,734,774...17,856,804
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 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,160
JBrowse link
G LGI1 leucine rich glioma inactivated 1 ISO RGD PMID:30813600 RGD:14995940 NCBI chr10:93,757,887...93,798,159
Ensembl chr10:93,757,840...93,806,272
JBrowse link
G LIG1 DNA ligase 1 ISO RGD PMID:30813600 RGD:14995940 NCBI chr19:48,115,445...48,170,595
Ensembl chr19:48,115,445...48,170,603
JBrowse link
G MBD5 methyl-CpG binding domain protein 5 IAGP ClinVar Annotator: match by term: Tonic-clonic convulsions ClinVar PMID:25741868, PMID:28492532 NCBI chr 2:148,021,011...148,516,971
Ensembl chr 2:148,021,011...148,516,971
JBrowse link
G NES nestin EXP CTD Direct Evidence: marker/mechanism CTD PMID:16137769 NCBI chr 1:156,668,763...156,677,407
Ensembl chr 1:156,668,763...156,677,407
JBrowse link
G NGF nerve growth factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr 1:115,285,915...115,338,253
Ensembl chr 1:115,285,917...115,338,256
Ensembl chr 1:115,285,917...115,338,256
Ensembl chr 1:115,285,917...115,338,256
JBrowse link
G NTF3 neurotrophin 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr12:5,432,108...5,495,299
Ensembl chr12:5,432,108...5,521,536
JBrowse link
G OXT oxytocin/neurophysin I prepropeptide EXP CTD Direct Evidence: marker/mechanism CTD PMID:4988877, PMID:6407273 NCBI chr20:3,068,871...3,072,517
Ensembl chr20:3,071,620...3,072,517
JBrowse link
G PCDH19 protocadherin 19 IAGP ClinVar Annotator: match by term: Tonic-clonic convulsions ClinVar NCBI chr  X:100,291,644...100,410,273
Ensembl chr  X:100,291,644...100,410,273
JBrowse link
G POMC proopiomelanocortin EXP CTD Direct Evidence: marker/mechanism CTD PMID:4371370 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903
JBrowse link
G PTPN23 protein tyrosine phosphatase non-receptor type 23 IAGP ClinVar Annotator: match by term: Tonic-clonic convulsions ClinVar PMID:30311386 NCBI chr 3:47,381,001...47,413,435
Ensembl chr 3:47,381,011...47,413,435
JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP 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 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214
JBrowse link
G SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 IAGP 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 2:165,957,418...166,036,400
Ensembl chr 2:165,957,188...166,390,771
JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 IAGP ClinVar Annotator: match by term: Tonic-clonic convulsions ClinVar PMID:25741868 NCBI chr12:51,591,233...51,812,864
Ensembl chr12:51,590,266...51,812,864
JBrowse link
G SLC25A24 solute carrier family 25 member 24 IAGP ClinVar Annotator: match by term: Tonic-clonic convulsions ClinVar PMID:25741868 NCBI chr 1:108,134,043...108,200,343
Ensembl chr 1:108,134,043...108,200,849
JBrowse link
G SOX2 SRY-box transcription factor 2 IAGP ClinVar Annotator: match by term: Tonic-clonic convulsions ClinVar PMID:30311386 NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436
JBrowse link
G SOX2-OT SOX2 overlapping transcript IAGP ClinVar Annotator: match by term: Tonic-clonic convulsions ClinVar PMID:30311386 NCBI chr 3:181,056,680...181,742,228
Ensembl chr 3:180,989,762...181,836,880
JBrowse link
G SPTAN1 spectrin alpha, non-erythrocytic 1 IAGP ClinVar Annotator: match by term: Tonic-clonic convulsions ClinVar PMID:25741868, PMID:28492532 NCBI chr 9:128,552,564...128,633,662
Ensembl chr 9:128,552,558...128,633,662
JBrowse link
familial adult myoclonic epilepsy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SAMD12 sterile alpha motif domain containing 12 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 1 OMIM
ClinVar
PMID:29507423, PMID:29939203 NCBI chr 8:118,131,825...118,621,963
Ensembl chr 8:118,189,455...118,622,112
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 IAGP OMIM NCBI chr 2:96,184,859...96,208,827
Ensembl chr 2:96,184,859...96,208,825
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 IAGP OMIM NCBI chr 5:10,353,693...10,440,388
Ensembl chr 5:10,353,695...10,440,388
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 IAGP OMIM NCBI chr 3:183,697,797...183,812,625
Ensembl chr 3:183,697,797...183,812,624
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 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar
OMIM
PMID:23518707, PMID:25741868, PMID:28492532 NCBI chr 1:205,042,937...205,078,289
Ensembl chr 1:205,042,937...205,078,289
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 IAGP ClinVar Annotator: match by term: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6 ClinVar
OMIM
PMID:29507423 NCBI chr16:24,610,205...24,826,223
Ensembl chr16:24,610,209...24,827,632
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 IAGP ClinVar Annotator: match by term: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 7 ClinVar
OMIM
PMID:29507423 NCBI chr 4:159,104,051...159,360,169
Ensembl chr 4:159,103,013...159,360,174
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 IAGP ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11
ClinVar Annotator: match by term: EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8
ClinVar
OMIM
PMID:12612585, PMID:15252188, PMID:15505175, PMID:16932951, PMID:17567819, PMID:19191339, PMID:19710712, PMID:21703448, PMID:25741868 NCBI chr 3:184,346,185...184,361,605
Ensembl chr 3:184,346,185...184,361,650
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 IAGP ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13
ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5
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 chr 5:161,847,191...161,899,971
Ensembl chr 5:161,847,063...161,899,981
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 IAGP ClinVar Annotator: match by term: Epilepsy, idiopathic generalized 7 ClinVar PMID:25326635, PMID:25741868 NCBI chr15:32,030,462...32,173,018
Ensembl chr15:31,923,438...32,173,018
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 IAGP ClinVar Annotator: match by term: Epilepsy, juvenile absence, susceptibility to, 1 OMIM
ClinVar
PMID:17159113, PMID:18414213, PMID:25741868, PMID:28492532 NCBI chr 6:52,420,342...52,497,198
Ensembl chr 6:52,362,123...52,529,886
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 IAGP DNA:SNPs:promoter (human) RGD PMID:12830434 RGD:1358444 NCBI chr 6:32,968,594...32,981,505
Ensembl chr 6:32,968,594...32,981,505
JBrowse link
G CACNA1G calcium voltage-gated channel subunit alpha1 G IAGP ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar NCBI chr17:50,560,715...50,629,625
Ensembl chr17:50,560,715...50,627,474
JBrowse link
G CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 IAGP
EXP
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:10762541, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 2:151,832,771...152,099,167
Ensembl chr 2:151,832,768...152,099,475
Ensembl chr 2:151,832,768...152,099,475
JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit IAGP ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar PMID:28492532 NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935
JBrowse link
G EFHC1 EF-hand domain containing 1 susceptibility IAGP
EXP
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Myoclonic epilepsy, juvenile 1
ClinVar
CTD
OMIM
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 6:52,420,342...52,497,198
Ensembl chr 6:52,362,123...52,529,886
JBrowse link
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 IAGP
EXP
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr 5:161,847,191...161,899,971
Ensembl chr 5:161,847,063...161,899,981
JBrowse link
G JRK Jrk helix-turn-helix protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:11463517 NCBI chr 8:142,651,501...142,669,983
Ensembl chr 8:142,657,460...142,681,968
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 IAGP OMIM NCBI chr 6:53,001,299...53,061,824
Ensembl chr 6:53,001,279...53,061,824
Ensembl chr 6:53,001,279...53,061,824
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 IAGP
EXP
ClinVar Annotator: match by term: APHASIA, ACQUIRED, WITH EPILEPSY
ClinVar Annotator: match by term: Acquired epileptiform aphasia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
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 chr16:9,753,404...10,182,928
Ensembl chr16:9,753,404...10,182,928
Ensembl chr16:9,753,404...10,182,928
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 ISS OMIM:606369 MouseDO NCBI chr 2:233,354,494...233,472,098
Ensembl chr 2:233,354,494...233,472,104
Ensembl chr 2:233,354,494...233,472,104
JBrowse link
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 IAGP ClinVar Annotator: match by term: Lennox-Gastaut syndrome ClinVar PMID:24407264, PMID:25741868, PMID:27066572, PMID:28492532 NCBI chr 5:162,067,465...162,155,539
Ensembl chr 5:162,000,057...162,162,977
JBrowse link
G GATM glycine amidinotransferase IAGP ClinVar Annotator: match by term: Lennox-Gastaut syndrome ClinVar NCBI chr15:45,361,124...45,402,227
Ensembl chr15:45,361,124...45,402,327
JBrowse link
G KCNQ3 potassium voltage-gated channel subfamily Q member 3 IAGP 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 8:132,120,858...132,481,095
Ensembl chr 8:132,120,859...132,481,095
JBrowse link
G MAPK10 mitogen-activated protein kinase 10 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy Lennox-Gastaut type ClinVar PMID:16249883 NCBI chr 4:86,010,405...86,594,625
Ensembl chr 4:85,990,007...86,594,625
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP 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 chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP 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 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214
JBrowse link
G SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 IAGP 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 2:165,957,418...166,036,400
Ensembl chr 2:165,957,188...166,390,771
JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP ClinVar Annotator: match by term: Lennox-Gastaut syndrome ClinVar PMID:28492532 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057
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 IAGP 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 chr16:9,753,404...10,182,928
Ensembl chr16:9,753,404...10,182,928
Ensembl chr16:9,753,404...10,182,928
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 IAGP 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
OMIM
PMID:16497722, PMID:18718938, PMID:23831613, PMID:23871722, PMID:23933820, PMID:24995671, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr  X:100,644,199...100,675,788
Ensembl chr  X:100,644,195...100,675,788
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 IAGP 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 chr16:2,475,104...2,509,669
Ensembl chr16:2,475,051...2,509,560
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18837
    syndrome 7868
      electroclinical syndrome 460
        absence epilepsy 109
          adolescence-adult electroclinical syndrome + 42
          childhood electroclinical syndrome + 75
Path 2
Term Annotations click to browse term
  disease 18837
    disease of anatomical entity 17323
      nervous system disease 13417
        central nervous system disease 11457
          brain disease 10643
            epilepsy 1650
              electroclinical syndrome 460
                absence epilepsy 109
                  adolescence-adult electroclinical syndrome + 42
                  childhood electroclinical syndrome + 75
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.