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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 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 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 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 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:25741868 PMID:26467025 PMID:28492532 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:9536098 PMID:17576681 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:25741868 PMID:25904555 PMID:26467025 PMID:26601054 PMID:27288002 PMID:28102150 PMID:28492532 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
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
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:20697953 PMID:24828792 PMID:25620207 PMID:25741868 PMID:26467025 PMID:27884173 PMID:28492532 PMID:29358611 NCBI chr 7:103,471,789...103,989,658
Ensembl chr 7:103,471,784...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 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 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 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 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:28492532 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:25741868 PMID:28492532 PMID:29358611 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, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 6
ClinVar Annotator: match by term: Epilepsy, childhood absence 6
ClinVar Annotator: match by term: CACNA1H-related disorder
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:12891677 PMID:14729682 PMID:15048902 PMID:15852375 PMID:15888660 PMID:16754686 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
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
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:16530959 PMID:16569738 PMID:16718694 PMID:24623842 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:9536098 PMID:11198279 PMID:11742254 PMID:12189488 PMID:17576681 PMID:18514161 PMID:19935738 PMID:20550555 PMID:23495136 PMID:23934111 PMID:24909990 PMID:25533962 PMID:25726841 PMID:25741868 PMID:25849321 PMID:26068938 PMID:26467025 PMID:26704558 PMID:26845707 PMID:26950270 PMID:27476654 PMID:27622563 PMID:28053010 PMID:28281572 PMID:28492532 PMID:28544625 PMID:28607477 PMID:29961870 NCBI 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:9536098 PMID:11326274 PMID:11326275 PMID:11748509 PMID:12097483 PMID:12117362 PMID:12477709 PMID:15342642 PMID:15470132 PMID:15866052 PMID:16510738 PMID:16924025 PMID:17148443 PMID:17576681 PMID:18094250 PMID:18414213 PMID:18566737 PMID:20485450 PMID:20551311 PMID:21425109 PMID:21714819 PMID:22190369 PMID:22539854 PMID:22750526 PMID:23708187 PMID:23720301 PMID:23935098 PMID:24407264 PMID:24480790 PMID:24630281 PMID:24811917 PMID:25726841 PMID:25730860 PMID:25731747 PMID:25741868 PMID:26467025 PMID:27066572 PMID:27334371 PMID:27340224 PMID:27367160 PMID:27864268 PMID:27899622 PMID:28166811 PMID:28460589 PMID:28492532 PMID:29100083 PMID:29358611 PMID:29655203 PMID:29778030 PMID:30660939 NCBI 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 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
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 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
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 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 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 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 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 ADRA2B adrenoceptor alpha 2B IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic 2 ClinVar PMID:25741868 NCBI chr 2:96,112,876...96,116,571
Ensembl chr 2:96,112,876...96,116,571 		JBrowse link
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
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:9536098 PMID:17576681 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 Annotator: match by term: Epilepsy, familial adult myoclonic, 7		 ClinVar
OMIM		 PMID:25741868 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:23632988 PMID:25741868 PMID:28492532 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:11992121 PMID:16530959 PMID:16569738 PMID:18414213 PMID:18534981 PMID:20551311 PMID:21714819 PMID:24623842 PMID:25741868 PMID:26467025 PMID:26918889 PMID:27521439 PMID:28251550 PMID:28492532 NCBI 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 PMID:31875159 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:28166811 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
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 ClinVar Annotator: match by term: Juvenile myoclonic epilepsy
ClinVar Annotator: match by term: Myoclonic Epilepsy, Juvenile, 1
ClinVar Annotator: match by term: Myoclonic epilepsy, juvenile 1		 ClinVar
OMIM		 PMID:8737649 PMID:12439895 PMID:15258581 PMID:16839746 PMID:17054699 PMID:17159113 PMID:17634063 PMID:18414213 PMID:18505993 PMID:18823326 PMID:20981092 PMID:22226147 PMID:22690745 PMID:22727576 PMID:22926142 PMID:23527921 PMID:24033266 PMID:24965021 PMID:25108116 PMID:25326635 PMID:25489633 PMID:25625532 PMID:25741868 PMID:26467025 PMID:27467453 PMID:28166811 PMID:28370826 PMID:28492532 PMID:29750216 PMID:31875159 NCBI chr 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:18414213 PMID:20890276 PMID:21559497 PMID:23408766 PMID:23933818 PMID:23933819 PMID:23933820 PMID:25164438 PMID:25726841 PMID:25741868 PMID:25904555 PMID:26220384 PMID:26283219 PMID:26467025 PMID:26601054 PMID:27171548 PMID:27288002 PMID:27640074 PMID:27839871 PMID:28492532 PMID:29124671 PMID:29358611 NCBI 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 SPTAN1 spectrin alpha, non-erythrocytic 1 IAGP ClinVar Annotator: match by term: Acquired epileptiform aphasia ClinVar PMID:28492532 NCBI chr 9:128,552,564...128,633,662
Ensembl chr 9:128,552,558...128,633,662 		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:30578330 PMID:31177578 PMID:31238879 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:25193669 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29029963 PMID:30255931 PMID:30373890 PMID:31571979 PMID:31658717 PMID:31669236 PMID:32234506 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:17347258 PMID:18804930 PMID:19589774 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:17347258 PMID:18804930 PMID:19589774 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:18414213 PMID:20890276 PMID:21559497 PMID:23408766 PMID:23933818 PMID:23933819 PMID:23933820 PMID:25164438 PMID:25726841 PMID:25741868 PMID:25904555 PMID:26220384 PMID:26283219 PMID:26467025 PMID:26601054 PMID:27171548 PMID:27288002 PMID:27640074 PMID:27839871 PMID:28492532 PMID:29124671 PMID:29358611 NCBI 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 SPTAN1 spectrin alpha, non-erythrocytic 1 IAGP ClinVar Annotator: match by term: Rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant ClinVar PMID:28492532 NCBI chr 9:128,552,564...128,633,662
Ensembl chr 9:128,552,558...128,633,662 		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:23352160 PMID:23831613 PMID:23871722 PMID:23933820 PMID:24995671 PMID:25741868 PMID:26467025 PMID:28166811 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 19890
    syndrome 8478
      electroclinical syndrome 769
        absence epilepsy 105
          adolescence-adult electroclinical syndrome + 38
          childhood electroclinical syndrome + 75
Path 2
Term Annotations click to browse term
  disease 19890
    disease of anatomical entity 18505
      nervous system disease 14498
        central nervous system disease 12743
          brain disease 11986
            epilepsy 2082
              electroclinical syndrome 769
                absence epilepsy 105
                  adolescence-adult electroclinical syndrome + 38
                  childhood electroclinical syndrome + 75
paths to the root