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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:focal epilepsy
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Accession:DOID:2234 term browser browse the term
Definition:An epilepsy syndrome that is characterized by seizures that are preceded by an isolated disturbance of a cerebral function and arise from an epileptic focus, a small portion of the brain that serves as the irritant driving the epileptic response. (DO)
Synonyms:exact_synonym: Abdominal Epilepsy;   Amygdalo-Hippocampal Epilepsy;   Benign Occipital Epilepsy;   Childhood Benign Focal Epilepsy;   Childhood Benign Occipital Epilepsy;   Digestive Epilepsy;   Epilepsies, Partial;   FOCAL-ONSET SEIZURE;   Focal Epilepsies;   Focal Seizure Disorder;   Focal Seizure Disorders;   Gelastic Epilepsies;   Gelastic Epilepsy;   Localization-Related Epilepsies;   Localization-Related Epilepsy;   Occipital Lobe Epilepsies;   Occipital Lobe Epilepsy;   Partial Epilepsy;   Partial Seizure Disorder;   Partial Seizure Disorders;   Partial Seizures, Simple, Consciousness Preserved;   Rhinencephalic Epilepsies;   Rhinencephalic Epilepsy;   abdominal epilepsies;   amygdalo-hippocampal epilepsies;   benign occipital epilepsies;   digestive epilepsies;   localisation-related epilepsy;   subclinical seizure;   subclinical seizures;   uncinate seizure;   uncinate seizures
 narrow_synonym: FOCAL SEIZURES WITH IMPAIRMENT OF CONSCIOUSNESS OR AWARENESS
 primary_id: MESH:D004828
 xref: EFO:0004263;   NCI:C122812
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
focal epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acot8 acyl-CoA thioesterase 8 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:173,950,530...173,962,188
Ensembl chr 3:173,950,531...173,962,570 		JBrowse link
G Actr5 actin related protein 5 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:167,702,299...167,715,736
Ensembl chr 3:167,702,482...167,715,730 		JBrowse link
G Ada adenosine deaminase ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:172,818,174...172,842,283
Ensembl chr 3:172,818,176...172,842,293 		JBrowse link
G Adig adipogenin ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:147,155,079...147,160,412
Ensembl chr 3:167,574,925...167,580,297 		JBrowse link
G Arfgef1 ARF guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:25741868 NCBI chr 5:13,764,507...13,859,237
Ensembl chr 5:13,764,975...13,859,237 		JBrowse link
G Arhgap40 Rho GTPase activating protein 40 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:147,165,781...147,206,552
Ensembl chr 3:167,585,665...167,626,532 		JBrowse link
G Bdnf brain-derived neurotrophic factor ISO GAD PMID:15118671 RGD:1331525 NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:116,619,633...116,670,657 		JBrowse link
G Blcap BLCAP, apoptosis inducing factor ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:166,642,676...166,656,924
Ensembl chr 3:166,642,677...166,652,829 		JBrowse link
G Bpi bactericidal/permeability-increasing protein ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:167,329,513...167,356,217
Ensembl chr 3:167,329,530...167,356,396 		JBrowse link
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:10923033 PMID:18779604 PMID:20104584 PMID:25741868 PMID:26467025 More... NCBI chr12:4,895,092...4,939,340
Ensembl chr12:4,895,447...4,936,194 		JBrowse link
G Cacna1h calcium voltage-gated channel subunit alpha1 H ISO ClinVar Annotator: match by term: Focal epilepsy ClinVar PMID:25741868 NCBI chr10:14,894,630...14,952,317
Ensembl chr10:14,894,641...14,952,771 		JBrowse link
G Caprin1 cell cycle associated protein 1 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:25741868 NCBI chr 3:110,606,489...110,685,408
Ensembl chr 3:110,606,489...110,685,562 		JBrowse link
G Ccn5 cellular communication network factor 5 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:172,910,670...172,922,064
Ensembl chr 3:172,910,681...172,922,062 		JBrowse link
G Cd40 CD40 molecule ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:174,209,719...174,224,847 		JBrowse link
G Cdh22 cadherin 22 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:174,264,869...174,389,940
Ensembl chr 3:174,264,869...174,390,142 		JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Focal epilepsy ClinVar PMID:25741868 NCBI chr  X:37,566,320...37,796,766
Ensembl chr  X:37,566,378...37,796,760 		JBrowse link
G Cfap96 cilia and flagella associated protein 96 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:25741868 PMID:28492532 PMID:33473208 NCBI chr16:53,023,623...53,048,176
Ensembl chr16:53,023,878...53,048,965 		JBrowse link
G Chd6 chromodomain helicase DNA binding protein 6 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:170,016,204...170,177,480
Ensembl chr 3:170,016,204...170,177,558 		JBrowse link
G Cnr1 cannabinoid receptor 1 IMP RGD PMID:19595742 RGD:2314658 NCBI chr 5:53,204,867...53,230,396
Ensembl chr 5:53,204,260...53,239,252 		JBrowse link
G Cntnap2 contactin associated protein 2 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:25741868 NCBI chr 4:75,109,358...77,366,258
Ensembl chr 4:75,109,858...77,366,258 		JBrowse link
G Cpa6 carboxypeptidase A6 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:21922598 PMID:23105115 PMID:25401298 PMID:25741868 PMID:26467025 More... NCBI chr 5:13,309,660...13,671,429
Ensembl chr 5:13,309,660...13,671,429 		JBrowse link
G Ctnnbl1 catenin, beta like 1 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:166,807,899...166,968,932
Ensembl chr 3:166,807,858...166,968,931 		JBrowse link
G Ctsa cathepsin A ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:173,988,443...173,994,320
Ensembl chr 3:173,988,460...173,995,539 		JBrowse link
G Dbndd2 dysbindin domain containing 2 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:173,634,551...173,639,999 JBrowse link
G Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Focal epilepsy | ClinVar Annotator: match by term: partial epilepsy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr14:81,956,777...82,087,392
Ensembl chr14:81,956,777...82,087,246 		JBrowse link
G Dhx35 DEAH-box helicase 35 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:167,869,971...167,927,300
Ensembl chr 3:167,870,055...167,927,300 		JBrowse link
G Dlgap4 DLG associated protein 4 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:165,584,271...165,731,868
Ensembl chr 3:165,584,360...165,730,604 		JBrowse link
G Dnttip1 deoxynucleotidyltransferase, terminal, interacting protein 1 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:173,901,070...173,924,742
Ensembl chr 3:173,900,945...173,925,098 		JBrowse link
G Dsn1 DSN1 component of MIS12 kinetochore complex ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:166,072,775...166,089,029
Ensembl chr 3:166,074,033...166,085,890 		JBrowse link
G Elmo2 engulfment and cell motility 2 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:174,442,965...174,716,723
Ensembl chr 3:174,442,965...174,480,459 		JBrowse link
G Emilin3 elastin microfibril interfacer 3 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:169,978,488...169,984,718
Ensembl chr 3:169,978,672...169,984,488 		JBrowse link
G Eppin epididymal peptidase inhibitor ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:173,731,739...173,738,651
Ensembl chr 3:173,731,739...173,738,651 		JBrowse link
G Eya2 EYA transcriptional coactivator and phosphatase 2 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:174,754,772...174,938,035
Ensembl chr 3:174,818,554...174,938,034 		JBrowse link
G Fam83d family with sequence similarity 83, member D ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:167,841,748...167,861,062
Ensembl chr 3:167,841,791...167,861,061 		JBrowse link
G Fitm2 fat storage-inducing transmembrane protein 2 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:172,560,781...172,567,291
Ensembl chr 3:172,560,781...172,567,291 		JBrowse link
G Gdap1l1 ganglioside-induced differentiation-associated protein 1-like 1 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:172,529,523...172,549,128
Ensembl chr 3:172,509,564...172,549,125 		JBrowse link
G Ghrh growth hormone releasing hormone ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:166,412,763...166,432,519
Ensembl chr 3:166,412,764...166,431,880 		JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Focal seizures with impairment of consciousness or awareness ClinVar PMID:25485910 PMID:25741868 PMID:27108799 PMID:28492532 PMID:30194818 More... NCBI chr 5:171,357,778...171,424,489
Ensembl chr 5:171,357,797...171,424,488 		JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: partial epilepsy ClinVar PMID:23933819 PMID:23933820 PMID:25164438 PMID:25741868 PMID:26467025 More... NCBI chr10:6,136,458...6,560,003
Ensembl chr10:6,138,037...6,551,378 		JBrowse link
G Gtsf1l gametocyte specific factor 1-like ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:172,155,533...172,158,228
Ensembl chr 3:172,154,100...172,162,042 		JBrowse link
G Hnf4a hepatocyte nuclear factor 4, alpha ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:172,606,220...172,667,758
Ensembl chr 3:172,606,220...172,667,758 		JBrowse link
G Ift52 intraflagellar transport 52 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:172,091,591...172,116,497
Ensembl chr 3:172,092,017...172,116,493 		JBrowse link
G Jph2 junctophilin 2 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:172,414,246...172,478,678
Ensembl chr 3:172,414,256...172,478,348 		JBrowse link
G Kcna6 potassium voltage-gated channel subfamily A member 6 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:25741868 NCBI chr 4:161,229,103...161,262,352
Ensembl chr 4:161,191,961...161,263,240 		JBrowse link
G Kcnk15 potassium two pore domain channel subfamily K member 15 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:172,934,659...172,940,877
Ensembl chr 3:172,934,544...172,940,877 		JBrowse link
G Kcns1 potassium voltage-gated channel, modifier subfamily S, member 1 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:173,255,028...173,262,432
Ensembl chr 3:173,255,028...173,262,346 		JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Focal epilepsy 		CTD
ClinVar		 PMID:18414213 PMID:23086397 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 3:29,081,071...29,136,902
Ensembl chr 3:29,081,321...29,134,768 		JBrowse link
G Kiaa1755 KIAA1755 ortholog ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:167,270,476...167,305,337
Ensembl chr 3:167,192,612...167,304,240 		JBrowse link
G L3mbtl1 L3MBTL histone methyl-lysine binding protein 1 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:172,014,774...172,053,181
Ensembl chr 3:172,021,416...172,053,181 		JBrowse link
G Lbp lipopolysaccharide binding protein ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:167,373,786...167,400,941
Ensembl chr 3:167,373,924...167,401,518 		JBrowse link
G Lpin3 lipin 3 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:169,953,479...169,978,034
Ensembl chr 3:169,960,522...169,978,031 		JBrowse link
G Mafb MAF bZIP transcription factor B ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:169,417,890...169,419,810
Ensembl chr 3:169,416,945...169,419,975 		JBrowse link
G Manbal mannosidase beta like ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:166,455,067...166,484,652
Ensembl chr 3:166,455,066...166,487,431 		JBrowse link
G Matn4 matrilin 4 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:173,539,966...173,554,984
Ensembl chr 3:173,539,966...173,554,984 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Focal epilepsy ClinVar PMID:25741868 PMID:34837432 NCBI chr  X:156,932,481...156,995,981
Ensembl chr  X:156,941,234...156,943,560 		JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP
ISO 		ClinVar Annotator: match by term: Focal-onset seizure ClinVar
RGD		 PMID:32581362 PMID:20303372 RGD:8547934 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:174,084,123...174,111,442 		JBrowse link
G Mroh8 maestro heat-like repeat family member 8 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:145,873,995...145,942,439
Ensembl chr 3:166,297,394...166,362,427 		JBrowse link
G Mtcl2 microtubule crosslinking factor 2 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:166,089,141...166,161,043
Ensembl chr 3:166,095,480...166,161,102 		JBrowse link
G Mybl2 MYB proto-oncogene like 2 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:172,124,765...172,153,221
Ensembl chr 3:172,116,550...172,153,221 		JBrowse link
G Myl9 myosin light chain 9 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:165,742,020...165,748,409
Ensembl chr 3:165,742,046...165,748,410 		JBrowse link
G Ncoa3 nuclear receptor coactivator 3 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:175,157,824...175,237,831
Ensembl chr 3:175,157,821...175,240,631 		JBrowse link
G Ncoa5 nuclear receptor coactivator 5 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:174,155,731...174,188,862
Ensembl chr 3:174,155,741...174,188,862 		JBrowse link
G Ndrg3 NDRG family member 3 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:145,587,505...145,650,896
Ensembl chr 3:165,890,091...166,049,887 		JBrowse link
G Neurl2 neuralized E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:173,985,996...173,988,717
Ensembl chr 3:173,986,857...173,989,043 		JBrowse link
G Nnat neuronatin ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:166,646,373...166,648,845
Ensembl chr 3:166,646,384...166,649,086 		JBrowse link
G Nprl3 NPR3-like, GATOR1 complex subunit ISO ClinVar Annotator: match by term: Focal epilepsy ClinVar PMID:25741868 PMID:28492532 NCBI chr10:15,859,739...15,900,261
Ensembl chr10:15,859,789...15,902,332 		JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:25741868 PMID:29493581 NCBI chr 2:193,271,399...193,282,023
Ensembl chr 2:193,271,430...193,278,543 		JBrowse link
G Ocstamp osteoclast stimulatory transmembrane protein ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:174,550,420...174,560,907
Ensembl chr 3:174,550,935...174,556,289 		JBrowse link
G Oser1 oxidative stress responsive serine-rich 1 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:172,486,417...172,504,607
Ensembl chr 3:172,486,440...172,504,597 		JBrowse link
G Pabpc1l poly(A) binding protein, cytoplasmic 1-like ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:173,111,856...173,145,389
Ensembl chr 3:173,112,904...173,146,038 		JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:25741868 PMID:28492532 PMID:29377098 NCBI chr  X:101,061,002...101,166,777
Ensembl chr  X:101,065,263...101,165,269 		JBrowse link
G Pcif1 phosphorylated CTD interacting factor 1 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:174,033,471...174,046,403
Ensembl chr 3:174,034,675...174,049,395 		JBrowse link
G Pigt phosphatidylinositol glycan anchor biosynthesis, class T ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:173,647,104...173,656,269
Ensembl chr 3:173,641,900...173,656,268 		JBrowse link
G Pkig cAMP-dependent protein kinase inhibitor gamma ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:172,749,871...172,817,514
Ensembl chr 3:172,749,928...172,817,519 		JBrowse link
G Plcg1 phospholipase C, gamma 1 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:169,805,299...169,836,040
Ensembl chr 3:169,804,846...169,836,050 		JBrowse link
G Pltp phospholipid transfer protein ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:173,994,162...174,011,982
Ensembl chr 3:173,994,162...174,012,505 		JBrowse link
G Ppp1r16b protein phosphatase 1, regulatory subunit 16B ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:167,743,518...167,839,511
Ensembl chr 3:167,743,952...167,839,242 		JBrowse link
G Ptprt protein tyrosine phosphatase, receptor type, T ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:170,608,993...171,707,692
Ensembl chr 3:170,608,993...171,746,088 		JBrowse link
G R3hdml R3H domain containing-like ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:172,590,815...172,601,584
Ensembl chr 3:172,590,815...172,602,009 		JBrowse link
G Rab5if RAB5 interacting factor ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:165,818,060...165,828,071
Ensembl chr 3:165,816,588...165,828,067 		JBrowse link
G Ralgapb Ral GTPase activating protein non-catalytic subunit beta ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:147,062,443...147,152,090
Ensembl chr 3:167,482,343...167,571,815 		JBrowse link
G Rbl1 RB transcriptional corepressor like 1 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:166,226,187...166,289,862
Ensembl chr 3:166,226,198...166,289,376 		JBrowse link
G Rbpjl recombination signal binding protein for immunoglobulin kappa J region-like ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:173,553,389...173,565,869
Ensembl chr 3:173,553,498...173,565,869 		JBrowse link
G Rims4 regulating synaptic membrane exocytosis 4 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:172,940,404...173,004,490
Ensembl chr 3:172,940,404...173,023,718 		JBrowse link
G Rpn2 ribophorin II ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:145,941,787...145,989,271
Ensembl chr 3:166,362,049...166,409,922 		JBrowse link
G Rprd1b regulation of nuclear pre-mRNA domain containing 1B ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:167,102,909...167,149,184
Ensembl chr 3:167,102,859...167,206,374 		JBrowse link
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:166,179,742...166,214,448
Ensembl chr 3:166,181,588...166,214,410 		JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Focal epilepsy | ClinVar Annotator: match by term: Focal seizures with impairment of consciousness or awareness | ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:12566275 PMID:14672992 PMID:16199547 PMID:17347258 PMID:17903680 More... NCBI chr 3:71,360,840...71,479,870
Ensembl chr 3:71,360,841...71,479,791 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Focal epilepsy ClinVar PMID:25741868 NCBI chr 3:70,710,862...70,845,569
Ensembl chr 3:70,710,954...70,845,279 		JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:1338909 PMID:7809121 PMID:11723275 PMID:20076800 PMID:22926674 More... NCBI chr10:91,745,459...91,796,452
Ensembl chr10:91,746,715...91,796,324 		JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Focal epilepsy ClinVar PMID:18414213 PMID:25741868 PMID:27210545 PMID:27875746 PMID:28492532 More... NCBI chr 7:133,860,901...134,034,809
Ensembl chr 7:133,861,227...134,030,026 		JBrowse link
G Sdc4 syndecan 4 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:173,574,239...173,592,923
Ensembl chr 3:173,574,239...173,593,670 		JBrowse link
G Semg1 semenogelin 1 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:173,329,413...173,332,261
Ensembl chr 3:173,329,414...173,332,261 		JBrowse link
G Serinc3 serine incorporator 3 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:172,721,208...172,749,853
Ensembl chr 3:172,721,321...172,740,765 		JBrowse link
G Sgk2 serum/glucocorticoid regulated kinase 2 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:172,063,625...172,089,000
Ensembl chr 3:172,063,776...172,089,011 		JBrowse link
G Sla2 Src-like-adaptor 2 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:145,367,070...145,383,586
Ensembl chr 3:165,828,657...165,847,062 		JBrowse link
G Slc12a5 solute carrier family 12 member 5 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:174,115,833...174,155,112
Ensembl chr 3:174,115,833...174,155,112 		JBrowse link
G Slc13a3 solute carrier family 13 member 3 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:174,561,174...174,623,893
Ensembl chr 3:174,561,168...174,623,895 		JBrowse link
G Slc2a10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:174,659,683...174,671,978
Ensembl chr 3:174,659,656...174,671,978 		JBrowse link
G Slc32a1 solute carrier family 32 member 1 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:167,687,245...167,691,714
Ensembl chr 3:167,687,098...167,691,731 		JBrowse link
G Slc35c2 solute carrier family 35 member C2 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:174,431,688...174,442,852
Ensembl chr 3:174,431,718...174,442,792 		JBrowse link
G Slpi secretory leukocyte peptidase inhibitor ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:173,501,573...173,503,822
Ensembl chr 3:173,501,573...173,503,822 		JBrowse link
G Snap25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: Focal epilepsy ClinVar PMID:25741868 PMID:33299146 NCBI chr 3:144,494,579...144,576,449
Ensembl chr 3:144,494,595...144,576,448 		JBrowse link
G Snhg11 small nucleolar RNA host gene 11 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:147,031,367...147,037,043 JBrowse link
G Snx21 sorting nexin family member 21 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:173,941,634...173,951,571 JBrowse link
G Spata25 spermatogenesis associated 25 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:173,981,863...173,983,818
Ensembl chr 3:173,981,866...173,983,818 		JBrowse link
G Spint3 serine peptidase inhibitor, Kunitz type, 3 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:173,713,314...173,716,062
Ensembl chr 3:173,712,460...173,716,121 		JBrowse link
G Spint4 serine peptidase inhibitor, Kunitz type 4 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:173,849,986...173,852,174
Ensembl chr 3:173,849,986...173,852,792 		JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:166,511,616...166,559,463
Ensembl chr 3:166,511,985...166,559,462 		JBrowse link
G Srsf6 serine and arginine rich splicing factor 6 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:172,009,072...172,014,395
Ensembl chr 3:172,009,061...172,014,392 		JBrowse link
G Stk4 serine/threonine kinase 4 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:173,165,238...173,247,135
Ensembl chr 3:173,165,083...173,247,134 		JBrowse link
G Sulf2 sulfatase 2 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:175,241,322...175,323,808
Ensembl chr 3:175,241,322...175,323,651 		JBrowse link
G Sys1 Sys1 golgi trafficking protein ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:173,610,332...173,637,624
Ensembl chr 3:173,610,710...173,614,814 		JBrowse link
G Tgif2 TGFB-induced factor homeobox 2 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:165,791,101...165,808,669
Ensembl chr 3:165,793,480...165,808,666 		JBrowse link
G Tgm2 transglutaminase 2 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:167,192,612...167,221,845
Ensembl chr 3:167,192,612...167,304,240 		JBrowse link
G Tldc2 TBC/LysM-associated domain containing 2 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:145,742,381...145,758,847
Ensembl chr 3:166,162,657...166,179,389 		JBrowse link
G Tnnc2 troponin C2, fast skeletal type ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:173,932,611...173,935,339
Ensembl chr 3:173,932,611...173,935,339 		JBrowse link
G Tomm34 translocase of outer mitochondrial membrane 34 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:173,148,737...173,165,689
Ensembl chr 3:173,145,279...173,165,814 		JBrowse link
G Top1 DNA topoisomerase I ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:169,713,195...169,796,330
Ensembl chr 3:169,713,130...169,796,327 		JBrowse link
G Tox2 TOX high mobility group box family member 2 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:172,272,718...172,400,235
Ensembl chr 3:172,272,736...172,400,233 		JBrowse link
G Tp53rka Tp53 tumor protein p53 regulating kinase A ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:174,638,962...174,645,198
Ensembl chr 3:174,638,962...174,643,347 		JBrowse link
G Tp53tg5 TP53 target 5 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:173,620,152...173,623,673
Ensembl chr 3:173,620,152...173,623,673 		JBrowse link
G Tti1 TELO2 interacting protein 1 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:167,058,985...167,102,858
Ensembl chr 3:167,058,998...167,086,729 		JBrowse link
G Ttpal alpha tocopherol transfer protein like ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:172,697,683...172,715,973
Ensembl chr 3:172,697,729...172,715,983 		JBrowse link
G Ube2c ubiquitin-conjugating enzyme E2C ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:173,925,975...173,928,375
Ensembl chr 3:173,925,934...173,932,678 		JBrowse link
G Ufsp2 UFM1-specific peptidase 2 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:25741868 PMID:28492532 PMID:33473208 NCBI chr16:53,004,590...53,023,640
Ensembl chr16:53,004,598...53,023,592 		JBrowse link
G Vstm2l V-set and transmembrane domain containing 2 like ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:166,991,035...167,020,869 JBrowse link
G Wfdc10a WAP four-disulfide core domain 10A ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:173,809,395...173,810,748
Ensembl chr 3:173,809,395...173,810,748 		JBrowse link
G Wfdc11 WAP four-disulfide core domain 11 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:173,816,904...173,825,765
Ensembl chr 3:173,816,926...173,825,765 		JBrowse link
G Wfdc12 WAP four-disulfide core domain 12 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:173,280,844...173,282,167
Ensembl chr 3:173,280,844...173,282,167 		JBrowse link
G Wfdc13 WAP four-disulfide core domain 13 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:173,838,906...173,840,641 JBrowse link
G Wfdc2 WAP four-disulfide core domain 2 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:173,706,091...173,735,055
Ensembl chr 3:173,706,460...173,712,161 		JBrowse link
G Wfdc3 WAP four-disulfide core domain 3 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:173,884,206...173,898,294
Ensembl chr 3:173,884,206...173,898,294 		JBrowse link
G Wfdc5 WAP four-disulfide core domain 5 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:173,268,410...173,274,253
Ensembl chr 3:173,268,410...173,274,253 		JBrowse link
G Wfdc6a WAP four-disulfide core domain 6A ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:173,724,681...173,728,489
Ensembl chr 3:173,724,681...173,731,790 		JBrowse link
G Wfdc8 WAP four-disulfide core domain 8 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:173,742,844...173,759,188
Ensembl chr 3:173,742,844...173,759,188 		JBrowse link
G Wfdc9 WAP four-disulfide core domain 9 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:173,799,888...173,808,383
Ensembl chr 3:173,799,888...173,803,066 		JBrowse link
G Ywhab tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:173,078,904...173,101,508
Ensembl chr 3:173,079,041...173,101,854 		JBrowse link
G Zfp334 zinc finger protein 334 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:174,531,835...174,544,374
Ensembl chr 3:174,533,517...174,544,400 		JBrowse link
G Zfp335 zinc finger protein 335 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:174,046,789...174,073,076
Ensembl chr 3:174,046,243...174,067,534 		JBrowse link
G Zhx3 zinc fingers and homeoboxes 3 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:169,837,497...169,968,371
Ensembl chr 3:169,837,516...169,935,530 		JBrowse link
G Zmynd8 zinc finger, MYND-type containing 8 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:174,948,162...175,061,382
Ensembl chr 3:174,948,537...175,061,571 		JBrowse link
G Zswim1 zinc finger, SWIM-type containing 1 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:173,978,442...173,982,159
Ensembl chr 3:173,979,943...173,984,224 		JBrowse link
G Zswim3 zinc finger, SWIM-type containing 3 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 3:173,962,078...173,977,360
Ensembl chr 3:173,941,801...173,977,692 		JBrowse link
autosomal dominant nocturnal frontal lobe epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd16b abhydrolase domain containing 16B ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:188,972,198...188,974,095
Ensembl chr 3:188,970,879...188,975,225 		JBrowse link
G Adar adenosine deaminase, RNA-specific ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 2:177,436,076...177,475,969
Ensembl chr 2:177,436,094...177,475,971 		JBrowse link
G Arfgap1 ARF GTPase activating protein 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:188,462,125...188,477,515
Ensembl chr 3:188,465,648...188,511,078 		JBrowse link
G Arfrp1 ARF related protein 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:188,844,013...188,851,473
Ensembl chr 3:188,845,511...188,851,431 		JBrowse link
G Bhlhe23 basic helix-loop-helix family, member e23 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:188,266,572...188,268,786
Ensembl chr 3:188,238,188...188,269,089 		JBrowse link
G Birc7 baculoviral IAP repeat-containing 7 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:188,425,392...188,430,174
Ensembl chr 3:188,425,392...188,430,174 		JBrowse link
G Ccdc25 coiled-coil domain containing 25 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr15:40,055,368...40,087,758
Ensembl chr15:44,230,940...44,265,236 		JBrowse link
G Chrna2 cholinergic receptor nicotinic alpha 2 subunit ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:9536098 PMID:16199547 PMID:16826524 PMID:17576681 PMID:18414213 More... NCBI chr15:44,517,862...44,534,144
Ensembl chr15:44,517,862...44,534,144 		JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy | ClinVar Annotator: match by term: Nocturnal frontal lobe epilepsy ClinVar PMID:3089211 PMID:7476881 PMID:7550350 PMID:7647781 PMID:8696332 More... NCBI chr 3:188,506,802...188,535,558
Ensembl chr 3:188,501,209...188,535,105 		JBrowse link
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy
ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy | ClinVar Annotator: match by term: Nocturnal frontal lobe epilepsy 		ClinVar
RGD		 PMID:9536098 PMID:11062464 PMID:11104662 PMID:11906688 PMID:16199547 More... RGD:737782 NCBI chr 2:177,479,091...177,487,306
Ensembl chr 2:177,479,091...177,491,326 		JBrowse link
G Clu clusterin ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr15:44,336,619...44,375,861
Ensembl chr15:44,359,914...44,375,860 		JBrowse link
G Col20a1 collagen type XX alpha 1 chain ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:188,477,663...188,512,326
Ensembl chr 3:188,465,648...188,511,078 		JBrowse link
G Col9a3 collagen type IX alpha 3 chain ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:188,089,337...188,112,034
Ensembl chr 3:188,089,403...188,112,270 		JBrowse link
G Crh corticotropin releasing hormone ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:23086396 PMID:23593457 PMID:24395520 PMID:25741868 NCBI chr 2:104,059,184...104,061,048
Ensembl chr 2:104,058,770...104,061,386 		JBrowse link
G Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:23542697 PMID:24283814 PMID:24814846 PMID:25366275 PMID:25741868 More... NCBI chr14:81,956,777...82,087,392
Ensembl chr14:81,956,777...82,087,246 		JBrowse link
G Dido1 death inducer-obliterator 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:188,150,100...188,203,445
Ensembl chr 3:188,150,100...188,194,823 		JBrowse link
G Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:188,999,508...189,033,455
Ensembl chr 3:188,999,470...189,034,089 		JBrowse link
G Eef1a2 eukaryotic translation elongation factor 1 alpha 2 ISO ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 More... NCBI chr 3:188,643,455...188,652,633
Ensembl chr 3:188,643,458...188,677,712 		JBrowse link
G Elp3 elongator acetyltransferase complex subunit 3 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr15:39,754,635...39,816,482
Ensembl chr15:43,930,234...43,992,214 		JBrowse link
G Ephx2 epoxide hydrolase 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr15:44,465,447...44,503,157
Ensembl chr15:44,465,448...44,503,160 		JBrowse link
G Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr15:44,210,124...44,230,785
Ensembl chr15:44,210,641...44,231,304
Ensembl chr15:44,210,641...44,231,304 		JBrowse link
G Extl3 exostosin-like glycosyltransferase 3 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr15:43,469,293...43,559,760
Ensembl chr15:43,471,366...43,495,356 		JBrowse link
G Fbxo16 F-box protein 16 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr15:39,492,268...39,541,493
Ensembl chr15:43,667,855...43,734,346 		JBrowse link
G Fndc11 fibronectin type III domain containing 11 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:188,708,045...188,710,670
Ensembl chr 3:188,707,334...188,714,164 		JBrowse link
G Fzd3 frizzled class receptor 3 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr15:43,596,962...43,664,047
Ensembl chr15:43,596,965...43,663,960 		JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:25741868 PMID:28492532 PMID:31440721 PMID:33391346 PMID:33726816 More... NCBI chr10:26,876,926...26,965,523
Ensembl chr10:26,876,926...26,965,523 		JBrowse link
G Gid8 GID complex subunit 8 homolog ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:188,203,571...188,214,324
Ensembl chr 3:188,203,619...188,212,270 		JBrowse link
G Gmeb2 glucocorticoid modulatory element binding protein 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:188,740,210...188,778,377
Ensembl chr 3:188,740,210...188,778,336 		JBrowse link
G Helz2 helicase with zinc finger 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:188,716,370...188,730,776
Ensembl chr 3:188,716,370...188,730,716 		JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 More... NCBI chr 3:188,572,345...188,631,391
Ensembl chr 3:188,572,926...188,631,302 		JBrowse link
G Lgi1 leucine-rich, glioma inactivated 1 ISO ClinVar Annotator: match by term: Autosomal dominant epilepsy ClinVar NCBI chr 1:245,455,691...245,497,036
Ensembl chr 1:245,455,599...245,499,095 		JBrowse link
G Lime1 Lck interacting transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:188,868,338...188,870,661
Ensembl chr 3:188,868,320...188,870,658 		JBrowse link
G Mef2c myocyte enhancer factor 2C ISO ClinVar Annotator: match by term: Autosomal dominant epilepsy ClinVar NCBI chr 2:15,708,732...15,871,639
Ensembl chr 2:15,708,924...15,871,640 		JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Autosomal dominant epilepsy ClinVar PMID:28492532 NCBI chr 5:164,167,985...164,277,438
Ensembl chr 5:164,167,928...164,277,435 		JBrowse link
G Nkain4 Sodium/potassium transporting ATPase interacting 4 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:188,430,862...188,451,561
Ensembl chr 3:188,430,243...188,453,760 		JBrowse link
G Nuggc nuclear GTPase, germinal center associated ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr15:43,997,446...44,041,716
Ensembl chr15:43,997,438...44,041,643 		JBrowse link
G Pbk PDZ binding kinase ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr15:44,198,506...44,209,572
Ensembl chr15:44,198,544...44,209,570 		JBrowse link
G Pnoc prepronociceptin ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr15:43,800,240...43,827,841
Ensembl chr15:43,800,246...43,827,470 		JBrowse link
G Ppdpf pancreatic progenitor cell differentiation and proliferation factor ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 More... NCBI chr 3:188,676,821...188,678,599
Ensembl chr 3:188,676,965...188,678,599 		JBrowse link
G Prima1 proline rich membrane anchor 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy
ClinVar Annotator: match by term: Nocturnal frontal lobe epilepsy
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy | ClinVar Annotator: match by term: Nocturnal frontal lobe epilepsy 		ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:128,094,686...128,155,592
Ensembl chr 6:128,103,175...128,154,865 		JBrowse link
G Prpf6 pre-mRNA processing factor 6 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:189,084,465...189,148,705
Ensembl chr 3:189,081,794...189,152,786 		JBrowse link
G Ptk6 protein tyrosine kinase 6 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:188,684,633...188,693,224
Ensembl chr 3:188,684,633...188,693,224 		JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:188,778,329...188,842,877
Ensembl chr 3:188,807,951...188,843,709 		JBrowse link
G Samd10 sterile alpha motif domain containing 10 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:189,077,795...189,082,069
Ensembl chr 3:189,078,513...189,082,582 		JBrowse link
G Scara3 scavenger receptor class A, member 3 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr15:44,315,422...44,348,416
Ensembl chr15:44,315,422...44,348,551 		JBrowse link
G Scara5 scavenger receptor class A, member 5 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr15:44,055,576...44,160,593
Ensembl chr15:44,055,630...44,160,585 		JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:9536098 PMID:10486327 PMID:10742094 PMID:11118488 PMID:11940708 More... NCBI chr 3:71,360,840...71,479,870
Ensembl chr 3:71,360,841...71,479,791 		JBrowse link
G Slc17a9 solute carrier family 17 member 9 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:188,211,106...188,233,553
Ensembl chr 3:188,216,944...188,233,551 		JBrowse link
G Slc2a4rg SLC2A4 regulator ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:188,871,509...188,874,652 JBrowse link
G Slc6a1 solute carrier family 6 member 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:25865495 PMID:27959697 PMID:28191889 PMID:28492532 PMID:34006619 NCBI chr 4:149,004,447...149,037,840
Ensembl chr 4:149,004,635...149,037,839 		JBrowse link
G Sox18 SRY-box transcription factor 18 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:189,163,000...189,164,802
Ensembl chr 3:189,163,002...189,164,802 		JBrowse link
G Srms src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:188,696,070...188,702,474
Ensembl chr 3:188,696,071...188,702,474 		JBrowse link
G Stmn3 stathmin 3 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:188,794,358...188,802,494
Ensembl chr 3:188,794,358...188,802,873 		JBrowse link
G Syngap1 synaptic Ras GTPase activating protein 1 ISO ClinVar Annotator: match by term: Autosomal dominant epilepsy ClinVar PMID:23161826 PMID:25741868 PMID:26989088 PMID:28492532 NCBI chr20:5,028,226...5,058,519
Ensembl chr20:5,026,707...5,057,751 		JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Autosomal dominant epilepsy ClinVar PMID:3402014 PMID:27541164 PMID:28492532 PMID:28663785 PMID:31112829 More... NCBI chr10:13,711,930...13,740,902
Ensembl chr10:13,714,833...13,740,473 		JBrowse link
G Tcfl5 transcription factor like 5 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:188,112,037...188,131,883
Ensembl chr 3:188,112,037...188,131,883 		JBrowse link
G Tpd52l2 TPD52 like 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:188,972,321...188,995,721 JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Autosomal dominant epilepsy ClinVar NCBI chr 3:32,367,434...32,416,565
Ensembl chr 3:32,367,670...32,416,568 		JBrowse link
G Uckl1 uridine-cytidine kinase 1-like 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:189,052,365...189,064,939
Ensembl chr 3:189,052,365...189,064,967 		JBrowse link
G Ythdf1 YTH N6-methyladenosine RNA binding protein F1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:188,402,228...188,417,740
Ensembl chr 3:188,402,231...188,417,740 		JBrowse link
G Zbtb46 zinc finger and BTB domain containing 46 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:188,874,826...188,949,005
Ensembl chr 3:188,877,117...188,913,033 		JBrowse link
G Zfp395 zinc finger protein 395 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr15:43,757,350...43,797,513
Ensembl chr15:43,757,473...43,797,512 		JBrowse link
G Zfp512b zinc finger protein 512B ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:189,065,036...189,075,587
Ensembl chr 3:189,065,037...189,075,761 		JBrowse link
G Zgpat zinc finger CCCH-type and G-patch domain containing ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:188,851,376...188,867,914
Ensembl chr 3:188,851,566...188,868,495 		JBrowse link
autosomal dominant nocturnal frontal lobe epilepsy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 1 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, type 1 		CTD
OMIM
ClinVar		 PMID:7476881 PMID:7550350 PMID:7647781 PMID:8696332 PMID:8833159 More... NCBI chr 3:188,506,802...188,535,558
Ensembl chr 3:188,501,209...188,535,105 		JBrowse link
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 1 ClinVar PMID:11062464 PMID:11104662 PMID:17900292 PMID:18456869 PMID:22036597 More... NCBI chr 2:177,479,091...177,487,306
Ensembl chr 2:177,479,091...177,491,326 		JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 1 ClinVar PMID:24463883 PMID:25482562 PMID:25741868 PMID:25985138 PMID:26467025 More... NCBI chr 3:29,081,071...29,136,902
Ensembl chr 3:29,081,321...29,134,768 		JBrowse link
autosomal dominant nocturnal frontal lobe epilepsy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO
ISS 		ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 3 | ClinVar Annotator: match by term: CHRNB2-related condition
OMIM:605375
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:11062464 PMID:11094099 PMID:11104662 PMID:11906688 More... NCBI chr 2:177,479,091...177,487,306
Ensembl chr 2:177,479,091...177,491,326 		JBrowse link
autosomal dominant nocturnal frontal lobe epilepsy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna2 cholinergic receptor nicotinic alpha 2 subunit ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 4 | ClinVar Annotator: match by term: EPILEPSY, FAMILIAL, WITH NOCTURNAL WANDERING AND ICTAL FEAR | ClinVar Annotator: match by term: Seizures, benign familial infantile, 6
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:16222669 PMID:16826524 PMID:17576681 PMID:18414213 More... NCBI chr15:44,517,862...44,534,144
Ensembl chr15:44,517,862...44,534,144 		JBrowse link
autosomal dominant nocturnal frontal lobe epilepsy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca2 ATP binding cassette subfamily A member 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:28,642,660...28,662,689
Ensembl chr 3:28,642,758...28,662,681 		JBrowse link
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:29,814,924...29,826,569
Ensembl chr 3:29,814,924...29,826,581 		JBrowse link
G Ajm1 apical junction component 1 homolog ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:28,793,078...28,799,459
Ensembl chr 3:28,774,457...28,800,096 		JBrowse link
G C8g complement C8 gamma chain ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:28,718,648...28,720,232 JBrowse link
G Camsap1 calmodulin regulated spectrin-associated protein 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:29,144,318...29,206,382
Ensembl chr 3:29,144,318...29,204,184 		JBrowse link
G Card9 caspase recruitment domain family, member 9 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:29,569,907...29,578,402
Ensembl chr 3:29,569,959...29,578,402 		JBrowse link
G Ccdc183 coiled-coil domain containing 183 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:28,826,918...28,837,072
Ensembl chr 3:28,826,921...28,835,326 		JBrowse link
G Clic3 chloride intracellular channel 3 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:28,670,176...28,672,166
Ensembl chr 3:28,670,229...28,675,723 		JBrowse link
G Dipk1b divergent protein kinase domain 1B ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:29,852,710...29,862,248
Ensembl chr 3:29,853,973...29,862,255 		JBrowse link
G Dnlz DNL-type zinc finger ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:29,568,041...29,569,937
Ensembl chr 3:29,568,041...29,569,996 		JBrowse link
G Dpp7 dipeptidylpeptidase 7 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:28,563,240...28,567,492
Ensembl chr 3:28,563,240...28,567,492 		JBrowse link
G Edf1 endothelial differentiation-related factor 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:28,764,906...28,779,499 JBrowse link
G Egfl7 EGF-like-domain, multiple 7 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:29,802,481...29,814,966
Ensembl chr 3:29,802,690...29,814,951 		JBrowse link
G Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:28,611,722...28,617,237
Ensembl chr 3:28,611,772...28,618,184 		JBrowse link
G Entr1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:29,599,059...29,605,780
Ensembl chr 3:29,599,059...29,605,898 		JBrowse link
G Fbxw5 F-box and WD repeat domain containing 5 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:28,720,670...28,725,237
Ensembl chr 3:28,720,778...28,725,235 		JBrowse link
G Fut7 fucosyltransferase 7 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:28,635,913...28,640,407
Ensembl chr 3:28,637,107...28,641,388 		JBrowse link
G Gpsm1 G-protein signaling modulator 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:29,538,929...29,565,921
Ensembl chr 3:29,526,802...29,565,920 		JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:28,501,836...28,528,754
Ensembl chr 3:28,501,836...28,528,754 		JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:29,614,868...29,627,542
Ensembl chr 3:29,614,868...29,627,542 		JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18479385 More... NCBI chr 3:29,081,071...29,136,902
Ensembl chr 3:29,081,321...29,134,768 		JBrowse link
G Lcn10 lipocalin 10 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:28,888,901...28,892,454
Ensembl chr 3:28,888,860...28,892,453 		JBrowse link
G Lcn12 lipocalin 12 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:28,710,557...28,713,537
Ensembl chr 3:28,707,042...28,720,501 		JBrowse link
G Lcn6 lipocalin 6 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:28,882,133...28,887,697
Ensembl chr 3:28,882,133...28,887,694 		JBrowse link
G Lcn8 lipocalin 8 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:28,866,061...28,869,045
Ensembl chr 3:28,866,061...28,869,045 		JBrowse link
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:29,424,620...29,432,637
Ensembl chr 3:29,424,620...29,432,637 		JBrowse link
G Mamdc4 MAM domain containing 4 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:28,780,523...28,789,139
Ensembl chr 3:28,780,523...28,789,139 		JBrowse link
G Man1b1 mannosidase, alpha, class 1B, member 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:28,539,778...28,563,155
Ensembl chr 3:28,541,347...28,563,154 		JBrowse link
G Mir126a microRNA 126a ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:29,813,150...29,813,267 JBrowse link
G Nacc2 NACC family member 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:29,278,077...29,345,098
Ensembl chr 3:29,281,190...29,344,840 		JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:29,676,171...29,721,613 		JBrowse link
G Npdc1 neural proliferation, differentiation and control, 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:28,618,601...28,624,591 JBrowse link
G Paxx PAXX, non-homologous end joining factor ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:28,672,906...28,676,252
Ensembl chr 3:28,672,906...28,674,466 		JBrowse link
G Phpt1 phosphohistidine phosphatase 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:28,791,062...28,792,905 JBrowse link
G Pmpca peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:29,605,823...29,614,936
Ensembl chr 3:29,604,232...29,614,935 		JBrowse link
G Ptgds prostaglandin D2 synthase ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:28,680,044...28,682,978
Ensembl chr 3:28,680,044...28,682,978 		JBrowse link
G Qsox2 quiescin sulfhydryl oxidase 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:29,433,091...29,462,739
Ensembl chr 3:29,433,091...29,463,036 		JBrowse link
G Rabl6 RAB, member RAS oncogene family-like 6 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:28,800,802...28,826,722
Ensembl chr 3:28,800,802...28,826,722 		JBrowse link
G Sapcd2 suppressor APC domain containing 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:28,583,615...28,590,694
Ensembl chr 3:28,585,416...28,591,389 		JBrowse link
G Sec16a SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:29,627,779...29,662,925
Ensembl chr 3:29,627,779...29,662,319 		JBrowse link
G Snapc4 small nuclear RNA activating complex, polypeptide 4 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:29,580,157...29,598,440
Ensembl chr 3:29,580,159...29,597,610 		JBrowse link
G Spag1 sperm associated antigen 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:24055112 PMID:25741868 PMID:26228299 PMID:27637300 PMID:28492532 More... NCBI chr 7:69,246,301...69,306,483
Ensembl chr 7:69,246,582...69,306,482 		JBrowse link
G Tmem141 transmembrane protein 141 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:28,837,665...28,839,623
Ensembl chr 3:28,836,576...28,839,623 		JBrowse link
G Tmem250 transmembrane protein 250 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:29,360,770...29,364,756
Ensembl chr 3:29,360,770...29,364,462 		JBrowse link
G Traf2 Tnf receptor-associated factor 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:28,740,098...28,764,752
Ensembl chr 3:28,740,098...28,764,691 		JBrowse link
G Uap1l1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:28,570,854...28,579,766
Ensembl chr 3:28,573,358...28,578,630 		JBrowse link
G Ubac1 UBA domain containing 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 3:29,223,582...29,246,216
Ensembl chr 3:29,204,570...29,246,161 		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 chr16:57,669,927...57,701,349
Ensembl chr16:57,669,750...57,718,305 		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 1:136,597,993...136,726,874
Ensembl chr 1:136,599,900...136,710,335 		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 4:75,109,858...77,366,258 		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 5:13,309,660...13,671,429
Ensembl chr 5:13,309,660...13,671,429 		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 chr20:10,245,157...10,247,199
Ensembl chr20:10,245,158...10,247,199 		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 chr14:81,956,777...82,087,392
Ensembl chr14:81,956,777...82,087,246 		JBrowse link
G Epm2a EPM2A glucan phosphatase, laforin ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 1:7,547,369...7,673,449
Ensembl chr 1:7,547,342...7,669,604 		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 chr10:26,876,926...26,965,523
Ensembl chr10:26,876,926...26,965,523 		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 3:28,501,836...28,528,754 		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 chr10:6,138,037...6,551,378 		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 4:133,898,662...133,899,156
Ensembl chr 4:133,887,903...133,898,847 		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 3:188,572,345...188,631,391
Ensembl chr 3:188,572,926...188,631,302 		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 7:99,614,089...99,914,736
Ensembl chr 7:99,619,544...99,914,610 		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 3:29,081,071...29,136,902
Ensembl chr 3:29,081,321...29,134,768 		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 chr19:60,269,541...60,621,378 		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:101,065,263...101,165,269 		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 3:142,513,033...143,225,646 		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 7:126,518,587...126,614,581 		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 4:126,426,767...126,771,986
Ensembl chr 4:126,426,771...126,772,008 		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 chr10:8,658,809...10,754,648
Ensembl chr10:8,658,809...10,754,706 		JBrowse link
G Rbfox3 RNA binding fox-1 homolog 3 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr10:104,218,940...104,655,863
Ensembl chr10:104,218,940...104,551,945 		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 4:13,628,399...14,055,162 		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 chr14:15,842,583...15,894,123
Ensembl chr14:15,842,515...15,896,671 		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 3:71,360,840...71,479,870
Ensembl chr 3:71,360,841...71,479,791 		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 1:95,481,298...95,491,211
Ensembl chr 1:95,481,298...95,491,197 		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 3:70,710,954...70,845,279 		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 3:71,553,185...71,701,377
Ensembl chr 3:71,553,189...71,701,377 		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 5:138,002,522...138,030,742 		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 4:149,004,447...149,037,840
Ensembl chr 4:149,004,635...149,037,839 		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 5:142,613,004...142,620,527 		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 3:33,639,020...33,703,890
Ensembl chr 3:33,607,210...33,703,889 		JBrowse link
G Strada STE20 related adaptor alpha ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532 PMID:29358611 NCBI chr10:91,594,648...91,623,710
Ensembl chr10:91,594,419...91,623,691 		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 5:137,182,648...137,229,349
Ensembl chr 5:137,182,648...137,229,419 		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 chr10:13,711,930...13,740,902
Ensembl chr10:13,714,833...13,740,473 		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 chr19:59,338,402...60,269,323
Ensembl chr19:59,341,233...60,269,441 		JBrowse link
complex partial epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn3a sodium voltage-gated channel alpha subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18242854 NCBI chr 3:70,554,496...70,666,198
Ensembl chr 3:70,556,224...70,666,198 		JBrowse link
familial focal epilepsy with variable foci term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta precursor protein ISO ClinVar Annotator: match by term: Familial focal epilepsy with variable foci ClinVar PMID:25741868 NCBI chr11:37,506,207...37,724,351
Ensembl chr11:37,506,408...37,722,971 		JBrowse link
G Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Familial focal epilepsy with variable foci ClinVar PMID:9536098 PMID:9851433 PMID:16199547 PMID:17576681 PMID:19763152 More... NCBI chr14:81,956,777...82,087,392
Ensembl chr14:81,956,777...82,087,246 		JBrowse link
G Nprl2 NPR2-like, GATOR1 complex subunit ISO ClinVar Annotator: match by term: Familial focal epilepsy with variable foci ClinVar PMID:25741868 NCBI chr 8:117,094,443...117,097,639
Ensembl chr 8:117,094,441...117,097,637 		JBrowse link
G Prr14l proline rich 14-like ISO ClinVar Annotator: match by term: Familial focal epilepsy with variable foci ClinVar PMID:23542697 PMID:23542701 PMID:28492532 NCBI chr14:77,869,848...77,937,141
Ensembl chr14:82,094,358...82,158,323 		JBrowse link
familial focal epilepsy with variable foci 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcnkb chloride voltage-gated channel Kb ISO ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 1 ClinVar PMID:20810575 PMID:24830959 PMID:25741868 PMID:26920127 PMID:28381550 More... NCBI chr 5:158,993,073...159,005,618
Ensembl chr 5:158,993,074...159,004,900 		JBrowse link
G Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: DEPDC5-related disorder | ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 1
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:9851433 PMID:16199547 PMID:17576681 PMID:23542697 More... NCBI chr14:81,956,777...82,087,392
Ensembl chr14:81,956,777...82,087,246 		JBrowse link
G Mpg N-methylpurine-DNA glycosylase ISO ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 1 ClinVar NCBI chr10:15,900,697...15,906,981
Ensembl chr10:15,899,635...15,907,052 		JBrowse link
G Nprl2 NPR2-like, GATOR1 complex subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:117,094,443...117,097,639
Ensembl chr 8:117,094,441...117,097,637 		JBrowse link
G Nprl3 NPR3-like, GATOR1 complex subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 1 		CTD
ClinVar		 PMID:16199547 PMID:25741868 PMID:26285051 PMID:26505888 PMID:28492532 NCBI chr10:15,859,739...15,900,261
Ensembl chr10:15,859,789...15,902,332 		JBrowse link
G Scn3a sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:70,554,496...70,666,198
Ensembl chr 3:70,556,224...70,666,198 		JBrowse link
G Ywhah tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta ISO ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 1 ClinVar NCBI chr14:81,920,819...81,930,202
Ensembl chr14:81,920,590...81,947,930 		JBrowse link
familial focal epilepsy with variable foci 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn2 chloride voltage-gated channel 2 ISO ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 2 ClinVar PMID:25741868 NCBI chr11:93,702,382...93,716,059
Ensembl chr11:93,702,360...93,716,059 		JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 2 ClinVar PMID:25387261 PMID:25741868 PMID:26633542 PMID:28492532 PMID:29758562 More... NCBI chr 5:62,678,197...62,697,360
Ensembl chr 5:62,678,367...62,697,343 		JBrowse link
G Nprl2 NPR2-like, GATOR1 complex subunit ISO ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 2 | ClinVar Annotator: match by term: NPRL2-related condition OMIM
ClinVar		 PMID:25741868 PMID:26505888 PMID:27173016 PMID:28199897 PMID:28492532 More... NCBI chr 8:117,094,443...117,097,639
Ensembl chr 8:117,094,441...117,097,637 		JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 2 ClinVar PMID:25387261 PMID:25741868 PMID:26633542 PMID:28492532 PMID:29758562 More... NCBI chr 5:62,697,451...62,699,664
Ensembl chr 5:62,693,122...62,699,664 		JBrowse link
familial focal epilepsy with variable foci 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpg N-methylpurine-DNA glycosylase ISO ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 3 ClinVar PMID:26786403 PMID:28492532 PMID:32086284 NCBI chr10:15,900,697...15,906,981
Ensembl chr10:15,899,635...15,907,052 		JBrowse link
G Nprl3 NPR3-like, GATOR1 complex subunit ISO ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 3 | ClinVar Annotator: match by term: NPRL3-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25640679 PMID:25741868 More... NCBI chr10:15,859,739...15,900,261
Ensembl chr10:15,859,789...15,902,332 		JBrowse link
G Polr3k RNA polymerase III subunit K ISO ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 3 ClinVar PMID:26786403 PMID:28492532 PMID:32086284 NCBI chr 3:189,360,349...189,364,546
Ensembl chr 3:189,360,171...189,366,697 		JBrowse link
G Rhbdf1 rhomboid 5 homolog 1 ISO ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 3 ClinVar PMID:26786403 PMID:28492532 PMID:32086284 NCBI chr10:15,911,282...15,924,214
Ensembl chr10:15,911,308...15,924,214 		JBrowse link
G Snrnp25 small nuclear ribonucleoprotein U11/U12 subunit 25 ISO ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 3 ClinVar PMID:26786403 PMID:28492532 PMID:32086284 NCBI chr10:15,924,932...15,928,279
Ensembl chr10:15,924,940...15,928,252 		JBrowse link
familial focal epilepsy with variable foci 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn3a sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 4 | ClinVar Annotator: match by term: SCN3A-related disorder OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18242854 PMID:20420834 PMID:21733155 More... NCBI chr 3:70,554,496...70,666,198
Ensembl chr 3:70,556,224...70,666,198 		JBrowse link
familial temporal lobe epilepsy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep55 centrosomal protein 55 ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 ClinVar PMID:24206907 PMID:28492532 NCBI chr 1:245,245,272...245,260,835
Ensembl chr 1:245,245,306...245,260,890 		JBrowse link
G Ffar4 free fatty acid receptor 4 ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 ClinVar PMID:24206907 PMID:28492532 NCBI chr 1:245,286,009...245,304,029
Ensembl chr 1:245,285,883...245,304,031 		JBrowse link
G Fra10ac1 FRA10A associated CGG repeat 1 ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 ClinVar PMID:24206907 PMID:28492532 NCBI chr 1:235,969,071...236,001,074
Ensembl chr 1:245,366,451...245,414,189 		JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 ClinVar PMID:25741868 NCBI chr10:6,136,458...6,560,003
Ensembl chr10:6,138,037...6,551,378 		JBrowse link
G Lgi1 leucine-rich, glioma inactivated 1 ISO
ISS 		ClinVar Annotator: match by term: Autosomal dominant epilepsy with auditory features | ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 | ClinVar Annotator: match by term: LGI1-related condition
OMIM:600512 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:11810107 PMID:11978770 PMID:12205652 PMID:12601709 More... NCBI chr 1:245,455,691...245,497,036
Ensembl chr 1:245,455,599...245,499,095 		JBrowse link
G Mical1 microtubule associated monooxygenase, calponin and LIM domain containing 1 ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr20:46,547,983...46,568,487
Ensembl chr20:46,556,536...46,568,487 		JBrowse link
G Myof myoferlin ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 ClinVar PMID:24206907 PMID:28492532 NCBI chr 1:245,086,109...245,234,768
Ensembl chr 1:245,086,109...245,234,768 		JBrowse link
G Pde6c phosphodiesterase 6C ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 ClinVar PMID:24206907 PMID:28492532 NCBI chr 1:245,322,015...245,377,874
Ensembl chr 1:245,322,015...245,377,852 		JBrowse link
G Rbp4 retinol binding protein 4 ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 ClinVar PMID:24206907 PMID:28492532 NCBI chr 1:245,306,349...245,313,551
Ensembl chr 1:245,306,349...245,313,898 		JBrowse link
G Reln reelin ISO ClinVar Annotator: match by term: Autosomal dominant epilepsy with auditory features | ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 ClinVar PMID:2564880 PMID:14515139 PMID:14593429 PMID:18414213 PMID:20697953 More... NCBI chr 4:13,628,440...14,055,201
Ensembl chr 4:13,628,399...14,055,162 		JBrowse link
familial temporal lobe epilepsy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpa6 carboxypeptidase A6 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 2 ClinVar PMID:25741868 NCBI chr 5:13,309,660...13,671,429
Ensembl chr 5:13,309,660...13,671,429 		JBrowse link
G Nprl3 NPR3-like, GATOR1 complex subunit ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 2 ClinVar NCBI chr10:15,859,739...15,900,261
Ensembl chr10:15,859,789...15,902,332 		JBrowse link
familial temporal lobe epilepsy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A ISO mRNA, protein:increased expression:hippocampus, temporal lobe (human)
ClinVar Annotator: match by term: MDR1 POLYMORPHISM 		ClinVar
RGD		 PMID:10716719 PMID:11502320 PMID:12686700 PMID:15452305 PMID:15452306 More... RGD:11041150 NCBI chr 4:26,312,403...26,488,456
Ensembl chr 4:26,312,409...26,397,135 		JBrowse link
familial temporal lobe epilepsy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpa6 carboxypeptidase A6 ISO ClinVar Annotator: match by term: CPA6-related condition | ClinVar Annotator: match by term: Familial temporal lobe epilepsy 5 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21922598 PMID:23105115 PMID:25401298 More... NCBI chr 5:13,309,660...13,671,429
Ensembl chr 5:13,309,660...13,671,429 		JBrowse link
familial temporal lobe epilepsy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Reln reelin ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 7 OMIM
ClinVar		 PMID:9536098 PMID:10973257 PMID:14515139 PMID:14593429 PMID:17576681 More... NCBI chr 4:13,628,440...14,055,201
Ensembl chr 4:13,628,399...14,055,162 		JBrowse link
familial temporal lobe epilepsy 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gal galanin and GMAP prepropeptide ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 | ClinVar Annotator: match by term: GAL-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25691535 PMID:25741868 PMID:28492532 NCBI chr 1:210,079,709...210,084,572
Ensembl chr 1:210,079,702...210,084,229 		JBrowse link
Focal Epilepsy with Speech Disorder and with or without Mental Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Dystonia, intellectual disability and language impairment | ClinVar Annotator: match by term: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION | ClinVar Annotator: match by term: GRIN2A-related condition OMIM
ClinVar		 PMID:7574460 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr10:6,136,458...6,560,003
Ensembl chr10:6,138,037...6,551,378 		JBrowse link
frontal lobe epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:12823585 PMID:14996991 PMID:17881519 NCBI chr 3:188,506,802...188,535,558
Ensembl chr 3:188,501,209...188,535,105 		JBrowse link
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:14996991 NCBI chr 2:177,479,091...177,487,306
Ensembl chr 2:177,479,091...177,491,326 		JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23086396 NCBI chr 3:29,081,071...29,136,902
Ensembl chr 3:29,081,321...29,134,768 		JBrowse link
G Slc4a10 solute carrier family 4 member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18413482 NCBI chr 3:67,050,925...67,367,637
Ensembl chr 3:66,770,954...67,367,646 		JBrowse link
partial motor epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO ClinVar Annotator: match by term: Focal clonic seizure ClinVar PMID:25741868 NCBI chr 2:177,479,091...177,487,306
Ensembl chr 2:177,479,091...177,491,326 		JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Focal clonic seizure ClinVar PMID:25741868 NCBI chr 7:133,860,901...134,034,809
Ensembl chr 7:133,861,227...134,030,026 		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:101,673,637...101,699,986
Ensembl chr  X:101,673,652...101,699,984 		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:102,016,074...102,055,143 		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:101,809,192...101,860,935
Ensembl chr  X:101,809,659...101,860,934 		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:101,546,809...101,572,760
Ensembl chr  X:101,546,819...101,572,764 		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:101,900,743...101,951,403
Ensembl chr  X:101,901,011...101,951,403 		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:102,056,718...102,073,915 		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:101,572,340...101,595,520 		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:101,065,263...101,165,269 		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:102,058,573...102,062,162
Ensembl chr20:22,034,086...22,034,406 		JBrowse link
G Srpx2 sushi-repeat-containing protein, X-linked 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | ClinVar Annotator: match by term: SRPX2-related condition 		OMIM
CTD
ClinVar		 PMID:16497722 PMID:18718938 PMID:21053371 PMID:22091964 PMID:23352160 More... NCBI chr  X:101,399,748...101,425,486
Ensembl chr  X:101,399,853...101,425,484 		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:101,428,785...101,479,207
Ensembl chr  X:101,428,785...101,479,151 		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:101,953,508...101,968,336
Ensembl chr  X:101,953,508...101,968,407 		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:102,011,206...102,015,444
Ensembl chr  X:102,011,206...102,015,444 		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:101,796,623...101,807,471
Ensembl chr  X:101,796,623...101,807,470 		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:101,350,432...101,365,929
Ensembl chr  X:101,350,269...101,365,929 		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:101,716,656...101,777,105 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:101,385,686...101,395,371
Ensembl chr  X:101,385,694...101,392,627 		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:101,634,438...101,733,814
Ensembl chr  X:101,635,283...101,646,461 		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: RE-PED-WC | 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 chr10:13,711,930...13,740,902
Ensembl chr10:13,714,833...13,740,473 		JBrowse link
temporal lobe epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A IEP mRNA:increased expression:dentate gyrus (rat) RGD PMID:15380564 RGD:1358367 NCBI chr 4:26,312,403...26,488,456
Ensembl chr 4:26,312,409...26,397,135 		JBrowse link
G Abcb1b ATP-binding cassette, sub-family B member 1B IDA RGD PMID:16928449 RGD:1598560 NCBI chr 4:26,197,706...26,280,156
Ensembl chr 4:26,106,903...26,279,567 		JBrowse link
G Actb actin, beta IEP protein:decreased expression:forebrain, postsynaptic density RGD PMID:11226670 RGD:5147998 NCBI chr12:16,776,664...16,779,634
Ensembl chr12:16,776,661...16,780,242 		JBrowse link
G Add1 adducin 1 IEP protein:decreased expression:forebrain, postsynaptic density RGD PMID:11226670 RGD:5147998 NCBI chr14:80,333,242...80,401,641
Ensembl chr14:80,333,244...80,391,732 		JBrowse link
G Adk adenosine kinase IEP
ISO 		RGD PMID:21635241 PMID:21635241 RGD:6482302, RGD:6482302 NCBI chr15:2,912,543...3,295,745
Ensembl chr15:2,912,544...3,295,745 		JBrowse link
G Agt angiotensinogen IEP RGD PMID:22542773 RGD:8549466 NCBI chr19:69,426,540...69,447,017
Ensembl chr19:69,421,638...69,446,944 		JBrowse link
G Ak2 adenylate kinase 2 IEP RGD PMID:22246993 RGD:11100024 NCBI chr 5:146,609,469...146,649,008
Ensembl chr 5:146,630,445...146,650,610 		JBrowse link
G Ano4 anoctamin 4 ISO ClinVar Annotator: match by term: Temporal lobe epilepsy ClinVar NCBI chr 7:25,216,389...25,625,811
Ensembl chr 7:25,216,389...25,625,746 		JBrowse link
G Aqp4 aquaporin 4 ISO DNA:SNPs: :multiple (human) RGD PMID:19864112 RGD:5148036 NCBI chr18:6,782,389...6,799,034
Ensembl chr18:6,782,389...6,799,098 		JBrowse link
G Arhgap33 Rho GTPase activating protein 33 ISO protein:increased phosphorylation:hippocampus RGD PMID:30996354 RGD:126848765 NCBI chr 1:94,903,566...94,917,074
Ensembl chr 1:94,902,922...94,917,684 		JBrowse link
G Avp arginine vasopressin IDA RGD PMID:12438923 RGD:1579871 NCBI chr 3:138,246,544...138,248,522
Ensembl chr 3:138,246,554...138,248,522 		JBrowse link
G Azgp1 alpha-2-glycoprotein 1, zinc-binding ISO protein:decreased expression:brain neuron RGD PMID:28576733 RGD:153350152 NCBI chr12:22,044,685...22,051,248
Ensembl chr12:22,044,751...22,053,020 		JBrowse link
G Bdkrb1 bradykinin receptor B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15196965 NCBI chr 6:130,275,631...130,284,968
Ensembl chr 6:130,275,478...130,280,973 		JBrowse link
G Bdkrb2 bradykinin receptor B2 ISO CTD Direct Evidence: therapeutic CTD PMID:15196965 NCBI chr 6:130,237,055...130,267,205
Ensembl chr 6:130,237,255...130,267,209 		JBrowse link
G Cabp1 calcium binding protein 1 IEP protein:altered expression:brain RGD PMID:12941472 RGD:14399955 NCBI chr12:47,045,914...47,109,614
Ensembl chr12:47,085,292...47,109,611 		JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A IEP RGD PMID:10448056 RGD:10054441 NCBI chr19:40,425,560...40,724,810
Ensembl chr19:40,425,560...40,724,599 		JBrowse link
G Casp2 caspase 2 disease_progression ISO RGD PMID:17627033 RGD:4107076 NCBI chr 4:72,116,265...72,134,023
Ensembl chr 4:72,116,246...72,134,022 		JBrowse link
G Cdc42 cell division cycle 42 IEP RGD PMID:19700661 RGD:5688272 NCBI chr 5:154,838,478...154,876,629
Ensembl chr 5:154,839,631...154,876,627 		JBrowse link
G Cnr1 cannabinoid receptor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:20498848 NCBI chr 5:53,204,867...53,230,396
Ensembl chr 5:53,204,260...53,239,252 		JBrowse link
G Crh corticotropin releasing hormone IEP mRNA:increased expression:dentate gyrus (rat) RGD PMID:9037416 RGD:5508845 NCBI chr 2:104,059,184...104,061,048
Ensembl chr 2:104,058,770...104,061,386 		JBrowse link
G Crhbp corticotropin releasing hormone binding protein IEP mRNA:increased expression:dentate gyrus (rat) RGD PMID:9037416 RGD:5508845 NCBI chr 2:28,427,139...28,439,446
Ensembl chr 2:28,427,139...28,439,446 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 IMP RGD PMID:28104461 RGD:13463105 NCBI chr13:42,630,383...42,634,288
Ensembl chr13:42,630,104...42,634,459 		JBrowse link
G Cyfip1 cytoplasmic FMR1 interacting protein 1 IEP mRNA, protein:increased expression:hippocampus, cerebral cortex (rat) RGD PMID:26000921 RGD:11568065 NCBI chr 1:115,842,754...115,935,163
Ensembl chr 1:115,846,661...115,951,292 		JBrowse link
G Dbn1 drebrin 1 IEP mRNA,protein:altered expression:hippocampus: RGD PMID:21240918 RGD:10398806 NCBI chr17:9,155,729...9,170,121
Ensembl chr17:9,155,787...9,170,122 		JBrowse link
G Dcx doublecortin ISO protein:decreased expression:hippocampus RGD PMID:20888264 RGD:12904713 NCBI chr  X:112,227,455...112,370,291
Ensembl chr  X:112,227,455...112,304,161 		JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 IEP protein:decreased expression:forebrain, postsynaptic density RGD PMID:11226670 RGD:5147998 NCBI chr10:55,239,397...55,267,780
Ensembl chr10:55,236,869...55,265,839 		JBrowse link
G Dtnbp1 dystrobrevin binding protein 1 ISO
IEP 		protein:increased expression:temporal cortex
protein:increased expression:cerebral cortex, hippocampus 		RGD PMID:22337344 PMID:22337344 RGD:11251761, RGD:11251761 NCBI chr17:19,891,313...19,982,770
Ensembl chr17:19,891,337...19,984,418 		JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit treatment IEP RGD PMID:33559830 RGD:405650612 NCBI chr 6:110,852,188...110,855,054
Ensembl chr 6:110,852,190...110,855,598 		JBrowse link
G Foxo3 forkhead box O3 ISO protein:increased expression:hippocampus,mitochondrion: RGD PMID:23278239 RGD:10402198 NCBI chr20:47,251,968...47,348,254
Ensembl chr20:47,255,878...47,346,845 		JBrowse link
G Fyn FYN proto-oncogene, Src family tyrosine kinase IEP protein:increased expression:forebrain, postsynaptic density RGD PMID:11226670 RGD:5147998 NCBI chr20:44,322,635...44,514,498
Ensembl chr20:44,322,361...44,515,479 		JBrowse link
G Gdnf glial cell derived neurotrophic factor treatment IDA RGD PMID:25105891 RGD:405878065 NCBI chr 2:58,621,327...58,647,242
Ensembl chr 2:58,621,327...58,647,240 		JBrowse link
G Glud1 glutamate dehydrogenase 1 IEP RGD PMID:18381650 RGD:6484554 NCBI chr16:9,646,569...9,680,215
Ensembl chr16:9,646,509...9,680,210 		JBrowse link
G Glul glutamate-ammonia ligase IDA
ISS
ISO 		inhibition results in recurrent seizures
protein:decreased expression, decreased activity:hippocampus (human) 		MouseDO
RGD		 PMID:18669513 PMID:14723991 RGD:2301554, RGD:2301555 NCBI chr13:68,519,500...68,585,554
Ensembl chr13:68,576,067...68,585,520 		JBrowse link
G Grik5 glutamate ionotropic receptor kainate type subunit 5 ISO
IEP 		mRNA:increased expression:hippocampus
protein:decreased expression:forebrain, postsynaptic density 		RGD PMID:9848088 PMID:11226670 RGD:2316538, RGD:5147998 NCBI chr 1:89,733,736...89,795,769
Ensembl chr 1:89,733,741...89,794,962 		JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO mRNA:decreased expression:hippocampus pyramidal layer (human) RGD PMID:9761317 RGD:13432039 NCBI chr 4:170,297,811...170,775,420
Ensembl chr 4:170,322,617...170,773,570 		JBrowse link
G Grm1 glutamate metabotropic receptor 1 IEP
ISO 		protein:increased expression:forebrain, postsynaptic density
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:15694259 PMID:11226670 RGD:5147998 NCBI chr 1:6,878,542...7,273,447
Ensembl chr 1:6,878,545...7,273,443 		JBrowse link
G Grm2 glutamate metabotropic receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18804094 NCBI chr 8:116,158,810...116,171,857
Ensembl chr 8:116,158,810...116,171,857 		JBrowse link
G Grm3 glutamate metabotropic receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18804094 NCBI chr 4:25,319,218...25,600,721
Ensembl chr 4:25,319,942...25,564,764 		JBrowse link
G Grm4 glutamate metabotropic receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15694259 NCBI chr20:5,486,024...5,574,668
Ensembl chr20:5,482,977...5,574,668 		JBrowse link
G Grm5 glutamate metabotropic receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15694259 NCBI chr 1:150,722,711...151,297,585
Ensembl chr 1:150,733,678...151,296,649 		JBrowse link
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 IEP
ISO 		mRNA:increased expression:hippocampus:
protein:decreased expression:hippocampus: 		RGD PMID:12890777 PMID:21905079 PMID:12890777 RGD:9686145, RGD:9686146, RGD:9686145 NCBI chr 2:51,228,710...51,632,806
Ensembl chr 2:51,228,710...51,632,806 		JBrowse link
G Hdac2 histone deacetylase 2 ISO protein:increased expression:timporal lobe: RGD PMID:21987499 RGD:9590259 NCBI chr20:42,101,815...42,126,486
Ensembl chr20:42,102,861...42,126,311 		JBrowse link
G Kcna1 potassium voltage-gated channel subfamily A member 1 ISS MouseDO NCBI chr 4:161,150,378...161,160,051
Ensembl chr 4:161,147,418...161,160,044 		JBrowse link
G Kcnab1 potassium voltage-gated channel subfamily A regulatory beta subunit 1 susceptibility ISO DNA:snps, haplotypes:multiple (human) RGD PMID:21333500 RGD:9743959 NCBI chr 2:151,446,975...151,913,636
Ensembl chr 2:151,446,947...151,913,636 		JBrowse link
G Kcnc4 potassium voltage-gated channel subfamily C member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20971086 NCBI chr 2:197,747,095...197,788,467
Ensembl chr 2:197,759,010...197,788,433 		JBrowse link
G Kcnn4 potassium calcium-activated channel subfamily N member 4 IMP RGD PMID:25016931 RGD:329969891 NCBI chr 1:89,084,306...89,102,279
Ensembl chr 1:89,086,814...89,102,275 		JBrowse link
G Kdr kinase insert domain receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17533168 NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,572,049...32,615,192 		JBrowse link
G Map2 microtubule-associated protein 2 IEP protein:decreased expression:brain RGD PMID:22265658 RGD:6483080 NCBI chr 9:75,173,038...75,431,606
Ensembl chr 9:75,288,262...75,428,459 		JBrowse link
G Mapt microtubule-associated protein tau ISO RGD PMID:28595035 RGD:13800901 NCBI chr10:89,638,618...89,736,108
Ensembl chr10:89,638,599...89,736,108 		JBrowse link
G Mbp myelin basic protein IEP protein:decreased expression:hippocampus: RGD PMID:23727401 RGD:7327195 NCBI chr18:78,130,652...78,241,174
Ensembl chr18:78,130,325...78,241,174 		JBrowse link
G Mical1 microtubule associated monooxygenase, calponin and LIM domain containing 1 ISO ClinVar Annotator: match by term: MICAL1-related Lateral temporal epilepsy ClinVar PMID:9536098 PMID:17576681 PMID:28492532 NCBI chr20:46,547,983...46,568,487
Ensembl chr20:46,556,536...46,568,487 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:cerebral cortex RGD PMID:22459050 RGD:8547829 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:174,084,123...174,111,442 		JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO CTD Direct Evidence: marker/mechanism CTD PMID:17092649 NCBI chr MT:8,599...9,382
Ensembl chr MT:8,584...9,367 		JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO mRNA:increased expression:brain (mouse) RGD PMID:10581412 RGD:5490286 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,729...3,685 		JBrowse link
G Mtor mechanistic target of rapamycin kinase IMP associated with Status Epilepticus RGD PMID:19474323 RGD:10041000 NCBI chr 5:164,167,985...164,277,438
Ensembl chr 5:164,167,928...164,277,435 		JBrowse link
G Nos1 nitric oxide synthase 1 IEP protein:increased expression:forebrain, postsynaptic density RGD PMID:11226670 RGD:5147998 NCBI chr12:44,276,011...44,456,371
Ensembl chr12:44,287,614...44,371,837 		JBrowse link
G Npy neuropeptide Y treatment ISO CTD Direct Evidence: therapeutic CTD
RGD		 PMID:15716408 PMID:18477594 RGD:10434563 NCBI chr 4:80,212,111...80,219,310
Ensembl chr 4:80,212,111...80,219,310 		JBrowse link
G Npy1r neuropeptide Y receptor Y1 ISO RGD PMID:15337376 RGD:1642609 NCBI chr16:27,804,416...27,814,070
Ensembl chr16:27,804,416...27,813,387 		JBrowse link
G Npy2r neuropeptide Y receptor Y2 ISO CTD Direct Evidence: therapeutic CTD
RGD		 PMID:15716408 PMID:15337376 RGD:1642609 NCBI chr 2:170,200,027...170,210,286
Ensembl chr 2:170,200,027...170,210,448 		JBrowse link
G Nsf N-ethylmaleimide sensitive factor, vesicle fusing ATPase IEP protein:increased expression:forebrain, postsynaptic density RGD PMID:11226670 RGD:5147998 NCBI chr10:89,227,937...89,357,383
Ensembl chr10:89,227,937...89,367,621 		JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 IEP protein:increased expression:forebrain, postsynaptic density RGD PMID:11226670 RGD:5147998 NCBI chr17:5,560,558...5,875,899
Ensembl chr17:5,564,570...5,874,628 		JBrowse link
G P2rx4 purinergic receptor P2X 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19084381 NCBI chr12:39,505,438...39,523,349
Ensembl chr12:39,505,438...39,523,094 		JBrowse link
G P2rx7 purinergic receptor P2X 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12121326 PMID:19084381 NCBI chr12:39,550,531...39,594,984
Ensembl chr12:39,540,567...39,595,193 		JBrowse link
G Pdyn prodynorphin ISO DNA:repeats:promoter: (human) RGD PMID:11835385 RGD:1358556 NCBI chr 3:137,354,161...137,366,503
Ensembl chr 3:137,354,161...137,366,503 		JBrowse link
G Pgf placental growth factor ISO protein:increased expression:temporal cortex RGD PMID:22079325 RGD:6483774 NCBI chr 6:110,547,165...110,557,747
Ensembl chr 6:110,547,153...110,557,747 		JBrowse link
G Prickle1 prickle planar cell polarity protein 1 treatment IMP protein:increased expression:hippocampus: RGD PMID:21905079 RGD:9686146 NCBI chr 7:126,518,587...126,614,581
Ensembl chr 7:126,518,587...126,614,581 		JBrowse link
G Ptprz1 protein tyrosine phosphatase, receptor type Z1 IEP RGD PMID:11292447 RGD:9589829 NCBI chr 4:52,363,006...52,560,905
Ensembl chr 4:52,363,295...52,560,903 		JBrowse link
G Rasgrf1 RAS protein-specific guanine nucleotide-releasing factor 1 ISO protein:decreased expression:temporal neocortex (human) RGD PMID:23200899 RGD:10003135 NCBI chr 8:99,324,986...99,454,099
Ensembl chr 8:99,324,749...99,454,089 		JBrowse link
G Reln reelin severity ISO mRNA:decreased expression:hippocampus (human)
protein: increased methylation: brain 		RGD PMID:12122039 PMID:19287316 RGD:2317926, RGD:13207524 NCBI chr 4:13,628,440...14,055,201
Ensembl chr 4:13,628,399...14,055,162 		JBrowse link
G Rgma repulsive guidance molecule BMP co-receptor a IEP protein:decreased expression:CA3 field of hippocampus RGD PMID:25420768 RGD:9850144 NCBI chr 1:136,538,782...136,582,763
Ensembl chr 1:136,538,759...136,582,763 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO
IEP 		protein:increased expression:temporal cortex
protein:increased expression:hippocampus, temporal cortex 		RGD PMID:21376786 PMID:21376786 RGD:12859046, RGD:12859046 NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:7,687,846...7,697,901 		JBrowse link
G Slc12a2 solute carrier family 12 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19674083 NCBI chr18:53,546,263...53,614,478
Ensembl chr18:53,546,333...53,614,470 		JBrowse link
G Slc12a5 solute carrier family 12 member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19674083 NCBI chr 3:174,115,833...174,155,112
Ensembl chr 3:174,115,833...174,155,112 		JBrowse link
G Slc1a1 solute carrier family 1 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11906504 NCBI chr 1:235,963,455...236,043,572
Ensembl chr 1:235,963,437...236,045,469 		JBrowse link
G Slc32a1 solute carrier family 32 member 1 ISS MouseDO NCBI chr 3:167,687,245...167,691,714
Ensembl chr 3:167,687,098...167,691,731 		JBrowse link
G Slc6a1 solute carrier family 6 member 1 IEP protein:decreased expression:hippocampus RGD PMID:15248296 RGD:1643206 NCBI chr 4:149,004,447...149,037,840
Ensembl chr 4:149,004,635...149,037,839 		JBrowse link
G Slit2 slit guidance ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20153733 NCBI chr14:66,829,661...67,168,517
Ensembl chr14:66,829,661...67,167,146 		JBrowse link
G Tek TEK receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17533168 NCBI chr 5:114,722,815...114,849,535
Ensembl chr 5:114,723,006...114,849,991 		JBrowse link
G Trpv1 transient receptor potential cation channel, subfamily V, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20144892 NCBI chr10:58,349,936...58,375,021
Ensembl chr10:58,340,223...58,375,021 		JBrowse link
G Vdac2 voltage-dependent anion channel 2 IEP protein:increased expression:hippocampus RGD PMID:18186018 RGD:10003053 NCBI chr15:2,512,214...2,526,105
Ensembl chr15:2,512,216...2,532,229 		JBrowse link
G Vdr vitamin D receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18534255 NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:130,866,745...130,916,757 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17533168 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:22,439,392...22,468,194 		JBrowse link
G Ywhaq tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta ISO protein:decreased expression:mitochondria, hippocampus RGD PMID:16981892 RGD:1625714 NCBI chr 6:46,664,358...46,694,875
Ensembl chr 6:46,664,358...46,694,875 		JBrowse link
G Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta ISO protein:increased expression:membrane-bounded organelle, hippocampus RGD PMID:16981892 RGD:1625714 NCBI chr 7:69,826,404...69,848,702
Ensembl chr 7:69,826,404...69,849,007 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            epilepsy 2950
              focal epilepsy 387
                Focal Epilepsy with Speech Disorder and with or without Mental Retardation 1
                Partial Epilepsy with Pericentral Spikes 0
                benign epilepsy with centrotemporal spikes + 52
                complex partial epilepsy 1
                familial focal epilepsy with variable foci + 15
                frontal lobe epilepsy + 112
                partial motor epilepsy 2
                partial sensory epilepsy + 0
                simple partial epilepsy 0
                temporal lobe epilepsy + 95
paths to the root