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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:childhood electroclinical syndrome
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Accession:DOID:0050704 term browser browse the term
Definition:An electroclinical syndrome with onset in childhood between one and 12 years of age. (DO)
Synonyms:primary_id: RDO:9002463
 alt_id: RDO:9002706


show annotations for term's descendants           Sort by:
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 chr19:40,425,560...40,724,810
Ensembl chr19:23,520,741...23,823,225 		JBrowse link
benign epilepsy with centrotemporal spikes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asah1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:26075876 PMID:26467025 PMID:28492532 PMID:29140481 More... NCBI chr16:50,966,404...50,997,827
Ensembl chr16:50,966,229...51,008,233 		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 1:127,188,146...127,317,041
Ensembl chr 1:127,190,059...127,300,502 		JBrowse link
G Cntnap2 contactin associated protein 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:18179895 PMID:22872700 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 4:75,109,358...77,366,258
Ensembl chr 4:74,109,472...76,362,027 		JBrowse link
G Cpa6 carboxypeptidase A6 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:21922598 PMID:23105115 PMID:25401298 PMID:25741868 PMID:26467025 More... NCBI chr 5:8,526,708...8,888,492
Ensembl chr 5:8,526,741...8,888,485 		JBrowse link
G Cstb cystatin B ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:8596935 PMID:9054946 PMID:9342192 PMID:15329070 PMID:15483648 More... NCBI chr20:10,245,462...10,247,505
Ensembl chr20:10,245,462...10,247,526 		JBrowse link
G Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:24591017 PMID:25366275 PMID:25741868 PMID:26467025 PMID:26505888 More... NCBI chr14:77,732,297...77,862,924
Ensembl chr14:77,732,297...77,862,794 		JBrowse link
G Epm2a EPM2A glucan phosphatase, laforin ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 1:5,727,111...5,845,338
Ensembl chr 1:5,727,066...5,920,555 		JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:9536098 PMID:17576681 PMID:23708187 PMID:25726841 PMID:25730860 More... NCBI chr10:26,374,693...26,463,937
Ensembl chr10:26,374,694...26,464,346 		JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 3:28,501,836...28,528,754
Ensembl chr 3:8,103,680...8,130,603 		JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Rolandic epilepsy 		CTD
ClinVar		 PMID:7574460 PMID:16199547 PMID:18414213 PMID:23933818 PMID:23933819 More... NCBI chr10:6,136,458...6,560,003
Ensembl chr10:5,631,369...6,044,637 		JBrowse link
G Ier3ip1-ps1 immediate early response 3 interacting protein 1, pseudogene 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 4:132,342,131...132,342,625
Ensembl chr 4:132,332,180...132,342,316 		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 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071 		JBrowse link
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:18625963 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr 7:97,730,219...98,025,652
Ensembl chr 7:97,730,465...98,025,653 		JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr 3:8,682,964...8,736,615
Ensembl chr 3:8,682,113...8,736,667 		JBrowse link
G Maf MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532 PMID:29358611 NCBI chr19:60,259,200...60,622,145
Ensembl chr19:43,360,342...43,712,365 		JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:19214208 PMID:19752159 PMID:20713952 PMID:25741868 PMID:26467025 More... NCBI chr  X:101,061,002...101,166,777
Ensembl chr  X:96,771,947...96,873,524 		JBrowse link
G Plcb1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 3:142,512,765...143,224,042
Ensembl chr 3:122,060,031...122,772,869 		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 chr 7:126,518,587...126,614,581
Ensembl chr 7:124,639,142...124,658,113 		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 4:124,869,655...125,214,862
Ensembl chr 4:124,869,552...125,214,824 		JBrowse link
G Rbfox1 RNA binding fox-1 homolog 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:24039908 PMID:25741868 PMID:26467025 PMID:28346479 PMID:28492532 More... NCBI chr10:8,152,198...10,248,120
Ensembl chr10:8,152,198...9,686,659 		JBrowse link
G Rbfox3 RNA binding fox-1 homolog 3 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr10:103,720,355...104,157,277
Ensembl chr10:103,720,636...104,156,935 		JBrowse link
G Reln reelin ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:10973257 PMID:14515139 PMID:14593429 PMID:20697953 PMID:24828792 More... NCBI chr 4:13,628,440...14,055,201
Ensembl chr 4:12,736,130...13,162,211 		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 chr14:15,558,271...15,609,813
Ensembl chr14:15,558,236...15,609,813 		JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:11254445 PMID:12610651 PMID:18021921 PMID:19200853 PMID:19522081 More... NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699 		JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:28492532 PMID:29358611 PMID:29758173 NCBI chr 1:86,353,917...86,363,820
Ensembl chr 1:86,353,917...86,363,739 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:28492532 PMID:29358611 NCBI chr 3:70,710,862...70,845,569
Ensembl chr 3:50,302,877...50,437,214 		JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:18414213 PMID:19763161 PMID:20478850 PMID:20635406 PMID:23232607 More... NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516 		JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 5:138,002,522...138,030,742
Ensembl chr 5:132,717,196...132,745,416 		JBrowse link
G Slc6a1 solute carrier family 6 member 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:28492532 PMID:29358611 NCBI chr 4:147,448,961...147,482,295
Ensembl chr 4:147,466,965...147,482,293 		JBrowse link
G Snip1 Smad nuclear interacting protein 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:28492532 PMID:29358611 NCBI chr 5:137,328,371...137,335,846
Ensembl chr 5:137,328,371...137,335,845 		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 More... NCBI chr 3:13,241,164...13,306,047
Ensembl chr 3:13,241,217...13,306,046 		JBrowse link
G Strada STE20 related adaptor alpha ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532 PMID:29358611 NCBI chr10:91,094,849...91,123,890
Ensembl chr10:91,094,687...91,123,830 		JBrowse link
G Szt2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:28492532 PMID:29358611 NCBI chr 5:131,897,250...131,943,953
Ensembl chr 5:131,897,275...131,943,904 		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 chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050 		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 chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391 		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 IAGP
ISO 		DNA:mutation:cds:752T>A (p.M251K)(rat)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:17196942 PMID:17196942 RGD:1598976 NCBI chr19:40,425,560...40,724,810
Ensembl chr19:23,520,741...23,823,225 		JBrowse link
G Cacna1agry calcium voltage-gated channel subunit alpha1 A; groggy mutant IAGP RGD PMID:17196942 RGD:1598976
G Cacna1h calcium voltage-gated channel subunit alpha1 H ISO ClinVar Annotator: match by term: CACNA1H-related disorder
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:9536098 PMID:17576681 PMID:17696120 PMID:21703448 PMID:25741868 More... RGD:1358447 NCBI chr10:14,894,630...14,952,317
Ensembl chr10:14,390,113...14,448,376 		JBrowse link
G Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14660671 NCBI chr 8:116,950,860...117,082,159
Ensembl chr 8:108,072,454...108,203,173 		JBrowse link
G Cacng2 calcium voltage-gated channel auxiliary subunit gamma 2 IEP mRNA,protein:increased expression:somatosensory cortex, primary motor cortex RGD PMID:18556211 RGD:13524553 NCBI chr 7:111,451,605...111,579,071
Ensembl chr 7:109,574,459...109,697,227 		JBrowse link
G Cacng3 calcium voltage-gated channel auxiliary subunit gamma 3 ISO RGD PMID:11904235 RGD:728397 NCBI chr 1:186,632,334...186,728,220
Ensembl chr 1:177,201,288...177,297,024 		JBrowse link
G Efhc1 EF-hand domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:23,375,815...23,414,283
Ensembl chr 9:23,375,840...23,414,283 		JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 ISO ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 4 ClinVar PMID:16718694 PMID:25741868 PMID:28492532 NCBI chr10:27,096,731...27,152,563
Ensembl chr10:26,595,160...26,650,864 		JBrowse link
G Gabra6 gamma-aminobutyric acid type A receptor subunit alpha6 ISO ClinVar Annotator: match by term: Childhood absence epilepsy ClinVar PMID:25741868 PMID:28492532 NCBI chr10:27,311,965...27,327,337
Ensembl chr10:26,810,423...26,825,769 		JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 ISO DNA:SNPs
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:18514161 PMID:16835263 RGD:1601269 NCBI chr 1:108,467,047...108,702,522
Ensembl chr 1:108,296,124...108,698,961 		JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO DNA:snp:intron:IVS6+2T>G (human) RGD PMID:12117362 RGD:1358631 NCBI chr10:26,374,693...26,463,937
Ensembl chr10:26,374,694...26,464,346 		JBrowse link
G Glud1 glutamate dehydrogenase 1 IEP protein:increased expression:thalamus RGD PMID:10975907 RGD:6484590 NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957 		JBrowse link
G Grik1 glutamate ionotropic receptor kainate type subunit 1 ISO RGD PMID:9259378 RGD:1358334 NCBI chr11:27,169,739...27,571,131
Ensembl chr11:27,169,740...27,570,645 		JBrowse link
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 IEP RGD PMID:15182313 RGD:9686420 NCBI chr 2:49,495,771...49,899,983
Ensembl chr 2:49,495,771...49,899,774 		JBrowse link
G Htr7 5-hydroxytryptamine receptor 7 IMP RGD PMID:15050708 RGD:6480686 NCBI chr 1:243,049,064...243,173,636
Ensembl chr 1:233,636,452...233,760,626 		JBrowse link
G Jrk Jrk helix-turn-helix protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11463517 NCBI chr 7:106,590,662...106,595,345
Ensembl chr 7:106,589,484...106,596,371 		JBrowse link
G Kcnk9 potassium two pore domain channel subfamily K member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15781965 NCBI chr 7:104,429,186...104,473,924
Ensembl chr 7:104,437,934...104,473,175 		JBrowse link
G Lgi4 leucine-rich repeat LGI family, member 4 ISO DNA:point mutation: :c.1914G>A (human) RGD PMID:14505228 RGD:1302591 NCBI chr 1:86,294,539...86,305,909
Ensembl chr 1:86,295,074...86,304,874 		JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP RGD PMID:20303372 RGD:8547934 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Childhood absence epilepsy ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:86,353,917...86,363,820
Ensembl chr 1:86,353,917...86,363,739 		JBrowse link
G Slc2a1 solute carrier family 2 member 1 onset ISO DNA:deletion, missense mutations, SNP:multiple RGD PMID:26537434 RGD:11058811 NCBI chr 5:138,002,522...138,030,742
Ensembl chr 5:132,717,196...132,745,416 		JBrowse link
Childhood Absence Epilepsy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp10a ATPase phospholipid transporting 10A (putative) ISO ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 ClinVar PMID:11198279 PMID:26950270 PMID:28053010 PMID:28492532 NCBI chr 1:109,556,760...109,730,440
Ensembl chr 1:109,556,782...109,730,437 		JBrowse link
G Gabra5 gamma-aminobutyric acid type A receptor subunit alpha 5 ISO ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 ClinVar PMID:11198279 PMID:26068938 PMID:26950270 PMID:28053010 PMID:28492532 NCBI chr 1:108,268,728...108,381,670
Ensembl chr 1:108,268,776...108,380,917 		JBrowse link
G Gabrb3 gamma-aminobutyric acid type 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:8382702 PMID:9536098 PMID:11198279 PMID:11742254 More... NCBI chr 1:108,467,047...108,702,522
Ensembl chr 1:108,296,124...108,698,961 		JBrowse link
G Gabrg3 gamma-aminobutyric acid type A receptor subunit gamma 3 ISO ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 ClinVar PMID:11198279 PMID:26068938 PMID:26950270 PMID:28053010 PMID:28492532 NCBI chr 1:107,627,450...108,247,483
Ensembl chr 1:107,627,390...108,246,763 		JBrowse link
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 ClinVar PMID:26068938 PMID:28492532 NCBI chr 1:106,904,789...107,110,997
Ensembl chr 1:106,880,084...107,108,134 		JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein ISO ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 ClinVar PMID:11198279 PMID:26068938 PMID:26950270 PMID:28053010 PMID:28492532 NCBI chr 1:116,252,026...116,581,838
Ensembl chr 1:107,116,278...107,446,074 		JBrowse link
G Rorb RAR-related orphan receptor B ISO ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 ClinVar PMID:25950944 NCBI chr 1:216,363,629...216,544,390
Ensembl chr 1:216,363,629...216,544,390 		JBrowse link
Childhood Absence Epilepsy 2 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 alpha 1 ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 2 ClinVar PMID:16718694 PMID:22190369 PMID:22539854 PMID:22750526 PMID:24407264 More... NCBI chr10:27,096,731...27,152,563
Ensembl chr10:26,595,160...26,650,864 		JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 2 | ClinVar Annotator: match by term: GABRG2-related disorder ClinVar PMID:9536098 PMID:11326275 PMID:11748509 PMID:12097483 PMID:12117362 More... NCBI chr10:26,374,693...26,463,937
Ensembl chr10:26,374,694...26,464,346 		JBrowse link
Childhood Absence Epilepsy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 susceptibility ISO ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Epilepsy, childhood absence 5 | ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 5 ClinVar
OMIM		 PMID:18514161 PMID:19935738 PMID:20550555 PMID:22303015 PMID:23934111 More... NCBI chr 1:108,467,047...108,702,522
Ensembl chr 1:108,296,124...108,698,961 		JBrowse link
Childhood Absence Epilepsy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1h calcium voltage-gated channel subunit alpha1 H ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 6 | ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 6 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 6 ClinVar
OMIM		 PMID:9536098 PMID:12891677 PMID:14729682 PMID:15048902 PMID:15852375 More... NCBI chr10:14,894,630...14,952,317
Ensembl chr10:14,390,113...14,448,376 		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 alpha 1 ISO ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 | ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 13 ClinVar
OMIM		 PMID:11992121 PMID:16530959 PMID:16569738 PMID:18414213 PMID:18534981 More... NCBI chr10:27,096,731...27,152,563
Ensembl chr10:26,595,160...26,650,864 		JBrowse link
Landau-Kleffner syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 PMID:29961510 NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835 		JBrowse link
G Atf7ip2 activating transcription factor 7 interacting protein 2 ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chr10:5,403,099...5,445,989
Ensembl chr10:5,403,105...5,446,142 		JBrowse link
G Carhsp1 calcium regulated heat stable protein 1 ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 PMID:29961510 NCBI chr10:6,946,036...6,960,556
Ensembl chr10:6,946,959...7,020,019 		JBrowse link
G Ciita class II, major histocompatibility complex, transactivator ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chr10:5,646,854...5,694,393
Ensembl chr10:5,140,178...5,187,440 		JBrowse link
G Clec16a C-type lectin domain containing 16A ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chr10:4,927,799...5,123,749
Ensembl chr10:4,928,030...5,123,578 		JBrowse link
G Dexi Dexi homolog ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chr10:5,126,021...5,138,746
Ensembl chr10:5,137,288...5,138,738 		JBrowse link
G Emp2 epithelial membrane protein 2 ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chr10:5,360,073...5,394,734
Ensembl chr10:5,360,073...5,394,733 		JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: APHASIA, ACQUIRED, WITH EPILEPSY | ClinVar Annotator: match by term: Acquired epileptiform aphasia | ClinVar Annotator: match by term: Landau-Kleffner syndrome 		CTD
ClinVar		 PMID:7574460 PMID:9536098 PMID:16199547 PMID:16537520 PMID:17576681 More... NCBI chr10:6,136,458...6,560,003
Ensembl chr10:5,631,369...6,044,637 		JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:25741868 NCBI chr 4:170,297,811...170,775,420
Ensembl chr 4:168,599,546...169,042,279 		JBrowse link
G Hapstr1 HUWE1 associated protein modifying stress responses ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 PMID:29961510 NCBI chr10:6,746,037...6,774,992
Ensembl chr10:6,746,048...6,774,992 		JBrowse link
G Itsn2 intersectin 2 ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:25741868 NCBI chr 6:27,616,645...27,727,373
Ensembl chr 6:27,600,406...27,727,124 		JBrowse link
G Litaf lipopolysaccharide-induced TNF factor ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chr10:5,163,258...5,199,930
Ensembl chr10:4,625,552...4,692,763 		JBrowse link
G Nubp1 NUBP iron-sulfur cluster assembly factor 1 ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chr10:5,766,157...5,777,648 JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 PMID:29961510 NCBI chr10:6,961,521...6,982,913
Ensembl chr10:6,961,709...6,983,098 		JBrowse link
G Prm1 protamine 1 ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chr10:4,871,817...4,872,312 JBrowse link
G Prm2 protamine 2 ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chr10:4,876,285...4,877,026
Ensembl chr10:4,873,372...4,877,026 		JBrowse link
G Prm3 protamine 3 ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chr10:4,877,471...4,877,985
Ensembl chr10:4,877,471...4,877,985 		JBrowse link
G Rmi2 RecQ mediated genome instability 2 ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chr10:4,829,333...4,837,264
Ensembl chr10:4,830,553...4,837,235 		JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chr10:5,389,574...5,391,265
Ensembl chr10:4,882,560...4,884,383 		JBrowse link
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:13,241,164...13,306,047
Ensembl chr 3:13,241,217...13,306,046 		JBrowse link
G Tekt5 tektin 5 ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chr10:5,279,856...5,316,619
Ensembl chr10:5,279,893...5,316,619 		JBrowse link
G Tmem186 transmembrane protein 186 ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 PMID:29961510 NCBI chr10:6,982,938...6,986,256
Ensembl chr10:6,982,916...6,986,256 		JBrowse link
G Tnp2 transition protein 2 ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chr10:4,879,812...4,880,540
Ensembl chr10:4,879,812...4,880,538 		JBrowse link
G Tvp23a trans-golgi network vesicle protein 23 homolog A ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chr10:5,227,198...5,263,185
Ensembl chr10:5,227,220...5,263,180 		JBrowse link
G Usp7 ubiquitin specific peptidase 7 ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 PMID:29961510 NCBI chr10:6,880,684...6,925,355
Ensembl chr10:6,828,795...6,925,355 		JBrowse link
Lennox-Gastaut syndrome 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: Lennox-Gastaut syndrome ClinVar PMID:25741868 NCBI chr 1:127,188,146...127,317,041
Ensembl chr 1:127,190,059...127,300,502 		JBrowse link
G Dgkd diacylglycerol kinase, delta ISS OMIM:606369 MouseDO NCBI chr 9:88,516,686...88,607,349
Ensembl chr 9:88,516,715...88,607,345 		JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO ClinVar Annotator: match by term: Lennox-Gastaut syndrome ClinVar PMID:22539854 PMID:22750526 PMID:24407264 PMID:25741868 PMID:27066572 More... NCBI chr10:26,374,693...26,463,937
Ensembl chr10:26,374,694...26,464,346 		JBrowse link
G Gatm glycine amidinotransferase ISO ClinVar Annotator: match by term: Lennox-Gastaut syndrome ClinVar NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129 		JBrowse link
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy Lennox-Gastaut type ClinVar PMID:23020937 PMID:23934111 PMID:24851285 PMID:25740509 PMID:25741868 More... NCBI chr 7:97,730,219...98,025,652
Ensembl chr 7:97,730,465...98,025,653 		JBrowse link
G Mapk10 mitogen activated protein kinase 10 ISO ClinVar Annotator: match by term: Macrocephaly and epileptic encephalopathy ClinVar PMID:16249883 NCBI chr14:6,802,247...7,094,103
Ensembl chr14:6,497,707...6,786,201 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Epileptic encephalopathy Lennox-Gastaut type ClinVar PMID:15181170 PMID:15351195 PMID:16401742 PMID:19578034 PMID:19752458 More... NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567 		JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Macrocephaly and epileptic encephalopathy ClinVar PMID:17347258 PMID:19589774 PMID:25741868 PMID:26633542 PMID:28492532 More... NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Lennox-Gastaut syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:70,710,862...70,845,569
Ensembl chr 3:50,302,877...50,437,214 		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 3:29,214,581...29,344,890
Ensembl chr 3:29,218,301...29,345,157 		JBrowse link
ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl13a ARF like GTPase 13A ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:97,380,370...97,406,704
Ensembl chr  X:97,380,390...97,406,702 		JBrowse link
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:102,016,070...102,055,448
Ensembl chr  X:97,722,802...97,761,853 		JBrowse link
G Cenpi centromere protein I ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:97,515,919...97,567,671
Ensembl chr  X:97,515,972...97,567,657 		JBrowse link
G Cstf2 cleavage stimulation factor subunit 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:97,253,559...97,279,476
Ensembl chr  X:97,253,586...97,279,476 		JBrowse link
G Drp2 dystrophin related protein 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:97,607,577...97,658,117
Ensembl chr  X:97,607,719...97,655,684 		JBrowse link
G Gla galactosidase, alpha ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:102,062,497...102,073,915
Ensembl chr  X:97,768,996...97,780,664 		JBrowse link
G Nox1 NADPH oxidase 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:101,572,338...101,625,571
Ensembl chr  X:97,279,056...97,302,236 		JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:21053371 PMID:22091964 PMID:23712037 PMID:27179713 PMID:28492532 More... NCBI chr  X:101,061,002...101,166,777
Ensembl chr  X:96,771,947...96,873,524 		JBrowse link
G Rpl36a ribosomal protein L36A ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:97,766,179...97,768,892
Ensembl chr  X:97,766,179...97,768,892
Ensembl chr20:97,766,179...97,768,892 		JBrowse link
G Srpx2 sushi-repeat-containing protein, X-linked 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | ClinVar Annotator: match by term: SRPX2-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:16497722 PMID:18718938 PMID:21053371 PMID:22091964 PMID:23352160 More... NCBI chr  X:97,106,455...97,132,197
Ensembl chr  X:97,106,561...97,132,195 		JBrowse link
G Sytl4 synaptotagmin-like 4 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:97,135,496...97,185,867
Ensembl chr  X:97,135,500...97,185,854 		JBrowse link
G Taf7l TATA-box binding protein associated factor 7-like ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:97,660,222...97,675,241
Ensembl chr  X:97,660,222...97,675,023 		JBrowse link
G Timm8a1 translocase of inner mitochondrial membrane 8A1 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:97,717,932...97,722,170
Ensembl chr  X:97,717,920...97,721,960 		JBrowse link
G Tmem35a transmembrane protein 35A ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:97,503,350...97,514,198
Ensembl chr  X:97,503,350...97,514,197 		JBrowse link
G Tnmd tenomodulin ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:21053371 PMID:22091964 PMID:23712037 PMID:27179713 PMID:28492532 More... NCBI chr  X:97,057,137...97,072,634
Ensembl chr  X:97,057,137...97,072,634 		JBrowse link
G Trmt2b tRNA methyltransferase 2 homolog B ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:97,425,712...97,483,821 JBrowse link
G Tspan6 tetraspanin 6 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:21053371 PMID:22091964 PMID:23712037 PMID:27179713 PMID:28492532 More... NCBI chr  X:97,092,394...97,099,659
Ensembl chr  X:97,092,388...97,099,309 		JBrowse link
G Xkrx XK related, X-linked ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:97,341,158...97,353,175
Ensembl chr  X:97,341,152...97,354,759 		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: Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp | ClinVar Annotator: match by term: Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:10072049 PMID:18414213 PMID:20727515 PMID:23526554 PMID:24033266 More... NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19143
    syndrome 11406
      electroclinical syndrome 1522
        absence epilepsy 255
          childhood electroclinical syndrome 111
            Landau-Kleffner syndrome 25
            Lennox-Gastaut syndrome 10
            benign epilepsy with centrotemporal spikes + 52
            childhood absence epilepsy + 34
            early onset absence epilepsy 0
Path 2
Term Annotations click to browse term
  disease 19143
    disease of anatomical entity 18456
      nervous system disease 14362
        central nervous system disease 12645
          brain disease 11865
            epilepsy 2941
              electroclinical syndrome 1522
                absence epilepsy 255
                  childhood electroclinical syndrome 111
                    Landau-Kleffner syndrome 25
                    Lennox-Gastaut syndrome 10
                    benign epilepsy with centrotemporal spikes + 52
                    childhood absence epilepsy + 34
                    early onset absence epilepsy 0
paths to the root