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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 2:164,634,688...164,662,132
Ensembl chr 2:164,634,685...164,646,802 		JBrowse link
G Actr5 ARP5 actin-related protein 5 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:158,466,800...158,481,131
Ensembl chr 2:158,466,808...158,481,131 		JBrowse link
G Ada adenosine deaminase ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:163,565,703...163,592,154
Ensembl chr 2:163,568,504...163,592,159 		JBrowse link
G Adig adipogenin ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:158,344,532...158,350,118
Ensembl chr 2:158,344,532...158,350,118 		JBrowse link
G Alpha-re alpha-globin locus regulatory region ISO ClinVar Annotator: match by term: Focal epilepsy ClinVar PMID:25741868 PMID:28492532 NCBI chr11:32,181,303...32,220,102 JBrowse link
G Arfgef1 ADP ribosylation factor guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:25741868 NCBI chr 1:10,207,732...10,303,306
Ensembl chr 1:10,207,796...10,302,895 		JBrowse link
G Arhgap40 Rho GTPase activating protein 40 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:158,354,682...158,392,786
Ensembl chr 2:158,354,716...158,392,682 		JBrowse link
G Bdnf brain derived neurotrophic factor ISO GAD PMID:15118671 RGD:1331525 NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352 		JBrowse link
G Blcap bladder cancer associated protein ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:157,398,282...157,408,281
Ensembl chr 2:157,398,282...157,413,194 		JBrowse link
G Bpi bactericidal permeablility increasing protein ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:158,099,983...158,126,453
Ensembl chr 2:158,100,014...158,126,451 		JBrowse link
G Brca2 breast cancer 2, early onset ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:10923033 PMID:18779604 PMID:20104584 PMID:25741868 PMID:26467025 More... NCBI chr 5:150,445,759...150,493,612
Ensembl chr 5:150,446,095...150,493,794 		JBrowse link
G Cacna1h calcium channel, voltage-dependent, T type, alpha 1H subunit ISO ClinVar Annotator: match by term: Focal epilepsy ClinVar PMID:25741868 NCBI chr17:25,593,259...25,655,308
Ensembl chr17:25,593,259...25,652,759 		JBrowse link
G Caprin1 cell cycle associated protein 1 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:25741868 NCBI chr 2:103,593,292...103,627,946
Ensembl chr 2:103,593,286...103,627,994 		JBrowse link
G Ccn5 cellular communication network factor 5 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:163,662,724...163,675,066
Ensembl chr 2:163,662,781...163,675,066 		JBrowse link
G Cd40 CD40 antigen ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868 		JBrowse link
G Cdh22 cadherin 22 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:164,953,421...165,076,892
Ensembl chr 2:164,953,427...165,076,773 		JBrowse link
G Cdkl5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Focal epilepsy ClinVar PMID:25741868 NCBI chr  X:159,567,241...159,777,673
Ensembl chr  X:159,554,919...159,777,700 		JBrowse link
G Cfap96 cilia and flagella associated protein 96 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:25741868 PMID:25741905 PMID:28492532 PMID:33473208 NCBI chr 8:46,387,980...46,428,290
Ensembl chr 8:46,406,643...46,428,477 		JBrowse link
G Chd6 chromodomain helicase DNA binding protein 6 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:160,788,898...160,951,006
Ensembl chr 2:160,788,898...160,950,995 		JBrowse link
G Cnr1 cannabinoid receptor 1 ISO RGD PMID:19595742 RGD:2314658 NCBI chr 4:33,923,171...33,948,831
Ensembl chr 4:33,924,593...33,948,831 		JBrowse link
G Cntnap2 contactin associated protein-like 2 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:25741868 NCBI chr 6:45,036,995...47,278,330
Ensembl chr 6:45,036,291...47,281,147 		JBrowse link
G Cpa6 carboxypeptidase A6 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:21922598 PMID:23105115 PMID:25741868 PMID:26467025 PMID:26648591 More... NCBI chr 1:10,366,016...10,790,277
Ensembl chr 1:10,394,945...10,790,170 		JBrowse link
G Ctnnbl1 catenin, beta like 1 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:157,579,321...157,733,823
Ensembl chr 2:157,579,321...157,733,534 		JBrowse link
G Ctsa cathepsin A ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:164,674,792...164,682,952
Ensembl chr 2:164,674,793...164,682,952 		JBrowse link
G D630003M21Rik RIKEN cDNA D630003M21 gene ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:158,024,453...158,071,837
Ensembl chr 2:158,024,453...158,071,142 		JBrowse link
G Dbndd2 dysbindin domain containing 2 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:164,309,073...164,335,243
Ensembl chr 2:164,328,026...164,335,239 		JBrowse link
G Dhx35 DEAH-box helicase 35 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:158,636,674...158,700,141
Ensembl chr 2:158,636,727...158,700,134 		JBrowse link
G Dlgap4 DLG associated protein 4 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:156,455,431...156,606,283
Ensembl chr 2:156,455,625...156,606,283 		JBrowse link
G Dnttip1 deoxynucleotidyltransferase, terminal, interacting protein 1 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:164,587,935...164,610,140
Ensembl chr 2:164,587,903...164,610,527 		JBrowse link
G Dsn1 DSN1 homolog, MIS12 kinetochore complex component ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:156,836,982...156,848,995
Ensembl chr 2:156,837,185...156,849,074 		JBrowse link
G Elmo2 engulfment and cell motility 2 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:165,129,951...165,168,421
Ensembl chr 2:165,129,951...165,168,399 		JBrowse link
G Emilin3 elastin microfibril interfacer 3 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:160,748,358...160,754,259
Ensembl chr 2:160,748,357...160,754,248 		JBrowse link
G Eppin epididymal peptidase inhibitor ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:164,430,263...164,435,491
Ensembl chr 2:164,430,263...164,435,514 		JBrowse link
G Eya2 EYA transcriptional coactivator and phosphatase 2 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:165,436,892...165,613,645
Ensembl chr 2:165,436,952...165,613,647 		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 2:158,610,011...158,628,557
Ensembl chr 2:158,610,013...158,628,557 		JBrowse link
G Fitm2 fat storage-inducing transmembrane protein 2 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:163,310,623...163,314,549
Ensembl chr 2:163,308,299...163,314,549 		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 2:163,280,387...163,297,264
Ensembl chr 2:163,280,396...163,297,244 		JBrowse link
G Ghrh growth hormone releasing hormone ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:157,171,416...157,190,645
Ensembl chr 2:157,171,417...157,189,426 		JBrowse link
G Gnb1 guanine nucleotide binding protein (G protein), 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 4:155,575,514...155,643,726
Ensembl chr 4:155,575,818...155,643,726 		JBrowse link
G Grin2a glutamate receptor, ionotropic, NMDA2A (epsilon 1) ISO ClinVar Annotator: match by term: partial epilepsy ClinVar PMID:23933819 PMID:23933820 PMID:25164438 PMID:25741868 PMID:26467025 More... NCBI chr16:9,385,765...9,813,744
Ensembl chr16:9,385,762...9,813,424 		JBrowse link
G Gtsf1l gametocyte specific factor 1-like ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:162,928,956...162,931,529
Ensembl chr 2:162,928,954...162,929,775 		JBrowse link
G Hnf4a hepatic nuclear factor 4, alpha ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:163,348,731...163,414,827
Ensembl chr 2:163,348,728...163,414,830 		JBrowse link
G Ift52 intraflagellar transport 52 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:162,859,200...162,888,075
Ensembl chr 2:162,859,274...162,888,061 		JBrowse link
G Jph2 junctophilin 2 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:163,178,162...163,239,969
Ensembl chr 2:163,178,162...163,239,913 		JBrowse link
G Kcna6 potassium voltage-gated channel, shaker-related, subfamily, member 6 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:25741868 NCBI chr 6:126,685,292...126,717,610
Ensembl chr 6:126,685,292...126,717,637 		JBrowse link
G Kcnk15 potassium channel, subfamily K, member 15 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:163,695,670...163,700,794
Ensembl chr 2:163,695,571...163,701,666 		JBrowse link
G Kcns1 K+ voltage-gated channel, subfamily S, 1 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:164,005,539...164,013,865
Ensembl chr 2:164,005,539...164,013,033 		JBrowse link
G Kcnt1 potassium 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 2:25,753,807...25,808,285
Ensembl chr 2:25,753,746...25,808,285 		JBrowse link
G L3mbtl1 L3MBTL1 histone methyl-lysine binding protein ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:162,784,260...162,819,726
Ensembl chr 2:162,785,392...162,816,442 		JBrowse link
G Lbp lipopolysaccharide binding protein ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:158,148,413...158,174,772
Ensembl chr 2:158,148,413...158,174,772 		JBrowse link
G Lpin3 lipin 3 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:160,722,590...160,747,920
Ensembl chr 2:160,722,590...160,747,922 		JBrowse link
G Mafb MAF bZIP transcription factor B ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:160,205,597...160,208,985
Ensembl chr 2:160,205,623...160,208,985 		JBrowse link
G Manbal mannosidase, beta A, lysosomal-like ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:157,209,514...157,238,683
Ensembl chr 2:157,209,514...157,238,683 		JBrowse link
G Matn4 matrilin 4 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:164,231,313...164,247,080
Ensembl chr 2:164,231,313...164,247,080 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Focal epilepsy ClinVar PMID:25741868 NCBI chr  X:73,070,198...73,129,296
Ensembl chr  X:73,070,198...73,129,296 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar
RGD		 PMID:32581362 PMID:20303372 RGD:8547934 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		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 2:157,050,468...157,121,612
Ensembl chr 2:157,050,470...157,121,469 		JBrowse link
G Mtcl2 microtubule crosslinking factor 2 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:156,852,361...156,921,185
Ensembl chr 2:156,857,719...156,921,174 		JBrowse link
G Mybl2 myeloblastosis oncogene-like 2 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:162,896,246...162,926,608
Ensembl chr 2:162,896,607...162,926,608 		JBrowse link
G Myl9 myosin, light polypeptide 9, regulatory ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:156,617,373...156,623,578
Ensembl chr 2:156,617,340...156,623,578 		JBrowse link
G Naa15 N(alpha)-acetyltransferase 15, NatA auxiliary subunit ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar NCBI chr 3:51,323,437...51,383,406
Ensembl chr 3:51,322,569...51,383,928 		JBrowse link
G Ncoa3 nuclear receptor coactivator 3 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:165,834,557...165,915,162
Ensembl chr 2:165,834,556...165,915,162 		JBrowse link
G Ncoa5 nuclear receptor coactivator 5 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:164,842,273...164,876,794
Ensembl chr 2:164,842,277...164,876,787 		JBrowse link
G Ndrg3 N-myc downstream regulated gene 3 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:156,769,262...156,834,052
Ensembl chr 2:156,769,265...156,833,976 		JBrowse link
G Neurl2 neuralized E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:164,672,650...164,675,516
Ensembl chr 2:164,672,652...164,675,376 		JBrowse link
G Nnat neuronatin ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:157,401,936...157,404,445
Ensembl chr 2:157,401,998...157,404,442 		JBrowse link
G Nprl3 nitrogen permease regulator-like 3 ISO ClinVar Annotator: match by term: Focal epilepsy ClinVar PMID:25741868 PMID:28492532 NCBI chr11:32,181,963...32,217,707
Ensembl chr11:32,175,628...32,217,707 		JBrowse link
G Nras neuroblastoma ras oncogene ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:25741868 PMID:29493581 NCBI chr 3:102,965,643...102,975,230
Ensembl chr 3:102,965,601...102,975,230 		JBrowse link
G Ocstamp osteoclast stimulatory transmembrane protein ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:165,237,370...165,242,314
Ensembl chr 2:165,235,680...165,242,325 		JBrowse link
G Oser1 oxidative stress responsive serine rich 1 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:163,247,742...163,266,422
Ensembl chr 2:163,247,742...163,266,617 		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 2:163,866,685...163,892,458
Ensembl chr 2:163,867,370...163,892,458 		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:132,483,609...132,589,802
Ensembl chr  X:132,483,609...132,589,736 		JBrowse link
G Pcif1 phosphorylated CTD interacting factor 1 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:164,721,288...164,733,360
Ensembl chr 2:164,721,224...164,736,374 		JBrowse link
G Pigt phosphatidylinositol glycan anchor biosynthesis, class T ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:164,339,461...164,350,221
Ensembl chr 2:164,339,440...164,350,221 		JBrowse link
G Pkig protein kinase inhibitor, gamma ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:163,500,306...163,568,078
Ensembl chr 2:163,500,306...163,568,078 		JBrowse link
G Plcg1 phospholipase C, gamma 1 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:160,573,230...160,617,680
Ensembl chr 2:160,573,220...160,617,680 		JBrowse link
G Pltp phospholipid transfer protein ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:164,681,441...164,699,564
Ensembl chr 2:164,681,438...164,699,631 		JBrowse link
G Ppp1r16b protein phosphatase 1, regulatory subunit 16B ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:158,508,653...158,608,254
Ensembl chr 2:158,507,318...158,608,254 		JBrowse link
G Prickle1 prickle planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Focal seizures with impairment of consciousness or awareness ClinVar NCBI chr15:93,396,992...93,494,147
Ensembl chr15:93,396,995...93,493,772 		JBrowse link
G Ptprt protein tyrosine phosphatase receptor type T ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:161,363,908...162,503,106
Ensembl chr 2:161,363,910...162,503,067 		JBrowse link
G R3hdml R3H domain containing-like ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:163,333,364...163,344,532
Ensembl chr 2:163,334,238...163,344,532 		JBrowse link
G Rab5if RAB5 interacting factor ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:156,705,042...156,715,483
Ensembl chr 2:156,705,048...156,715,483 		JBrowse link
G Ralgapb Ral GTPase activating protein, beta subunit (non-catalytic) ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:158,251,722...158,341,173
Ensembl chr 2:158,251,768...158,341,173 		JBrowse link
G Rbl1 RB transcriptional corepressor like 1 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:156,987,813...157,046,454
Ensembl chr 2:156,987,813...157,046,454 		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 2:164,244,996...164,257,368
Ensembl chr 2:164,245,061...164,257,368 		JBrowse link
G Rims4 regulating synaptic membrane exocytosis 4 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:163,701,676...163,760,893
Ensembl chr 2:163,701,671...163,760,603 		JBrowse link
G Rpn2 ribophorin II ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:157,121,018...157,168,238
Ensembl chr 2:157,120,937...157,168,239 		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 2:157,870,395...157,920,127
Ensembl chr 2:157,870,417...157,974,217 		JBrowse link
G Samhd1 SAM domain and HD domain, 1 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:156,939,454...156,977,016
Ensembl chr 2:156,939,453...156,977,185 		JBrowse link
G Scn1a sodium channel, voltage-gated, type I, alpha 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 2:66,101,125...66,271,181
Ensembl chr 2:66,101,122...66,271,184 		JBrowse link
G Scn2a sodium channel, voltage-gated, type II, alpha ISO ClinVar Annotator: match by term: Focal epilepsy ClinVar PMID:25741868 NCBI chr 2:65,451,108...65,597,791
Ensembl chr 2:65,451,115...65,597,791 		JBrowse link
G Scn4a sodium channel, voltage-gated, type IV, alpha ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:1338909 PMID:7809121 PMID:11723275 PMID:20076800 PMID:22926674 More... NCBI chr11:106,208,374...106,256,385
Ensembl chr11:106,209,418...106,244,114 		JBrowse link
G Scn8a sodium channel, voltage-gated, type VIII, alpha ISO ClinVar Annotator: match by term: Focal epilepsy | ClinVar Annotator: match by term: Focal seizures with impairment of consciousness or awareness ClinVar PMID:18414213 PMID:25741868 PMID:27210545 PMID:27875746 PMID:28492532 NCBI chr15:100,766,600...100,943,819
Ensembl chr15:100,767,739...100,943,819 		JBrowse link
G Sdc4 syndecan 4 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:164,266,167...164,285,512
Ensembl chr 2:164,266,167...164,285,807 		JBrowse link
G Semg1 semenogelin 1 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:164,077,849...164,080,261
Ensembl chr 2:164,077,849...164,080,386 		JBrowse link
G Serinc3 serine incorporator 3 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:163,466,577...163,487,767
Ensembl chr 2:163,465,192...163,487,051 		JBrowse link
G Sgk2 serum/glucocorticoid regulated kinase 2 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:162,829,249...162,856,059
Ensembl chr 2:162,829,250...162,856,047 		JBrowse link
G Sla2 Src-like-adaptor 2 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:156,716,071...156,729,161
Ensembl chr 2:156,714,377...156,729,112 		JBrowse link
G Slc12a5 solute carrier family 12, member 5 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:164,802,766...164,841,651
Ensembl chr 2:164,802,722...164,841,651 		JBrowse link
G Slc13a3 solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:165,247,215...165,315,117
Ensembl chr 2:165,246,948...165,315,150 		JBrowse link
G Slc2a10 solute carrier family 2 (facilitated glucose transporter), member 10 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:165,345,817...165,361,837
Ensembl chr 2:165,345,707...165,361,837 		JBrowse link
G Slc32a1 solute carrier family 32 (GABA vesicular transporter), member 1 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:158,449,158...158,457,667
Ensembl chr 2:158,452,687...158,457,668 		JBrowse link
G Slc35c2 solute carrier family 35, member C2 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:165,118,442...165,129,808
Ensembl chr 2:165,118,474...165,129,789 		JBrowse link
G Slpi secretory leukocyte peptidase inhibitor ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:164,195,990...164,231,086
Ensembl chr 2:164,195,990...164,231,015 		JBrowse link
G Snap25 synaptosomal-associated protein 25 ISO ClinVar Annotator: match by term: Focal epilepsy ClinVar PMID:25741868 PMID:33299146 NCBI chr 2:136,555,359...136,624,348
Ensembl chr 2:136,555,373...136,624,348 		JBrowse link
G Snhg11 small nucleolar RNA host gene 11 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:158,217,633...158,228,394
Ensembl chr 2:158,217,558...158,228,071 		JBrowse link
G Snx21 sorting nexin family member 21 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:164,627,535...164,635,730
Ensembl chr 2:164,627,743...164,635,736 		JBrowse link
G Spata25 spermatogenesis associated 25 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:164,669,302...164,670,454
Ensembl chr 2:164,668,309...164,670,457 		JBrowse link
G Spint3 serine peptidase inhibitor, Kunitz type, 3 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:164,411,641...164,415,355
Ensembl chr 2:164,411,615...164,415,379 		JBrowse link
G Spint4 serine protease inhibitor, Kunitz type 4 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:164,540,421...164,544,368
Ensembl chr 2:164,540,421...164,544,373 		JBrowse link
G Src Rous sarcoma oncogene ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:157,265,828...157,313,758
Ensembl chr 2:157,260,364...157,313,782 		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 2:162,773,428...162,779,041
Ensembl chr 2:162,773,448...162,779,041 		JBrowse link
G Stk4 serine/threonine kinase 4 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:163,916,033...163,997,444
Ensembl chr 2:163,912,242...163,997,444 		JBrowse link
G Sulf2 sulfatase 2 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:165,915,819...165,997,603
Ensembl chr 2:165,915,009...165,997,583 		JBrowse link
G Sys1 SYS1 Golgi-localized integral membrane protein homolog (S. cerevisiae) ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:164,297,736...164,322,141
Ensembl chr 2:164,298,884...164,321,558 		JBrowse link
G Tgif2 TGFB-induced factor homeobox 2 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:156,681,737...156,697,490
Ensembl chr 2:156,681,927...156,697,490 		JBrowse link
G Tgm2 transglutaminase 2, C polypeptide ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:157,958,325...157,988,312
Ensembl chr 2:157,958,322...157,988,356 		JBrowse link
G Tldc2 TBC/LysM associated domain containing 2 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:156,918,542...156,938,868
Ensembl chr 2:156,928,975...156,938,402 		JBrowse link
G Tnnc2 troponin C2, fast ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:164,619,081...164,621,654
Ensembl chr 2:164,619,081...164,621,887 		JBrowse link
G Tomm34 translocase of outer mitochondrial membrane 34 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:163,895,458...163,913,168
Ensembl chr 2:163,895,460...163,913,089 		JBrowse link
G Top1 topoisomerase (DNA) I ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:160,487,901...160,564,684
Ensembl chr 2:160,487,808...160,564,684 		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 2:163,045,047...163,166,092
Ensembl chr 2:163,045,045...163,166,090 		JBrowse link
G Trp53rka transformation related protein 53 regulating kinase A ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:165,332,032...165,335,244
Ensembl chr 2:165,332,030...165,335,244 		JBrowse link
G Trp53tg5 transformation related protein 53 target 5 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:164,308,303...164,315,787
Ensembl chr 2:164,312,221...164,315,644 		JBrowse link
G Tti1 TELO2 interacting protein 1 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:157,823,723...157,870,382
Ensembl chr 2:157,823,723...157,870,353 		JBrowse link
G Ttpal tocopherol (alpha) transfer protein-like ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:163,444,206...163,460,933
Ensembl chr 2:163,444,234...163,460,933 		JBrowse link
G Ube2c ubiquitin-conjugating enzyme E2C ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:164,611,849...164,614,822
Ensembl chr 2:164,611,818...164,620,742 		JBrowse link
G Ufsp2 UFM1-specific peptidase 2 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:25741868 PMID:25741905 PMID:28492532 PMID:33473208 NCBI chr 8:46,428,551...46,449,995
Ensembl chr 8:46,428,565...46,449,995 		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 2:157,756,573...157,786,639
Ensembl chr 2:157,756,573...157,786,639 		JBrowse link
G Wfdc10 WAP four-disulfide core domain 10 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:164,497,966...164,499,288
Ensembl chr 2:164,497,966...164,499,288 		JBrowse link
G Wfdc11 WAP four-disulfide core domain 11 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:164,504,814...164,516,011
Ensembl chr 2:164,504,814...164,516,007 		JBrowse link
G Wfdc12 WAP four-disulfide core domain 12 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:164,031,151...164,032,528
Ensembl chr 2:164,031,151...164,032,528 		JBrowse link
G Wfdc13 WAP four-disulfide core domain 13 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:164,527,027...164,529,626
Ensembl chr 2:164,527,027...164,529,626 		JBrowse link
G Wfdc2 WAP four-disulfide core domain 2 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:164,404,635...164,410,430
Ensembl chr 2:164,404,333...164,410,430 		JBrowse link
G Wfdc3 WAP four-disulfide core domain 3 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:164,573,222...164,587,914
Ensembl chr 2:164,573,100...164,587,851 		JBrowse link
G Wfdc5 WAP four-disulfide core domain 5 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:164,018,245...164,024,662
Ensembl chr 2:164,018,247...164,024,662 		JBrowse link
G Wfdc6a WAP four-disulfide core domain 6A ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:164,421,439...164,427,704
Ensembl chr 2:164,421,439...164,427,367 		JBrowse link
G Wfdc8 WAP four-disulfide core domain 8 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:164,438,378...164,455,545
Ensembl chr 2:164,438,378...164,455,546 		JBrowse link
G Wfdc9 WAP four-disulfide core domain 9 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:164,491,547...164,499,263
Ensembl chr 2:164,491,551...164,498,503 		JBrowse link
G Ywhab tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:163,837,082...163,860,508
Ensembl chr 2:163,836,880...163,860,508 		JBrowse link
G Zfp334 zinc finger protein 334 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:165,216,184...165,230,234
Ensembl chr 2:165,216,184...165,230,179 		JBrowse link
G Zfp335 zinc finger protein 335 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:164,733,802...164,756,034
Ensembl chr 2:164,733,802...164,753,677 		JBrowse link
G Zhx3 zinc fingers and homeoboxes 3 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:160,612,367...160,714,910
Ensembl chr 2:160,590,628...160,714,918 		JBrowse link
G Zmynd8 zinc finger, MYND-type containing 8 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:165,626,072...165,740,896
Ensembl chr 2:165,626,072...165,740,936 		JBrowse link
G Zswim1 zinc finger SWIM-type containing 1 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:164,664,933...164,668,791
Ensembl chr 2:164,664,606...164,668,791 		JBrowse link
G Zswim3 zinc finger SWIM-type containing 3 ISO ClinVar Annotator: match by term: Focal-onset seizure ClinVar PMID:32581362 NCBI chr 2:164,647,034...164,664,047
Ensembl chr 2:164,647,018...164,664,050 		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:25921748 PMID:28492532 NCBI chr 2:181,134,999...181,136,773
Ensembl chr 2:181,134,999...181,136,773 		JBrowse link
G Arfgap1 ADP-ribosylation factor GTPase activating protein 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 2:180,608,290...180,624,319
Ensembl chr 2:180,609,018...180,624,319 		JBrowse link
G Arfrp1 ADP-ribosylation factor related protein 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:25921748 PMID:28492532 NCBI chr 2:180,999,483...181,007,197
Ensembl chr 2:180,999,483...181,007,197 		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 2:180,416,174...180,418,693
Ensembl chr 2:180,416,174...180,418,693 		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 2:180,570,402...180,575,803
Ensembl chr 2:180,570,816...180,575,803 		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 chr14:66,074,751...66,104,053
Ensembl chr14:66,074,751...66,104,056 		JBrowse link
G Chrna2 cholinergic receptor nicotinic alpha 2 subunit ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy | ClinVar Annotator: match by term: Nocturnal frontal lobe epilepsy ClinVar PMID:9536098 PMID:16199547 PMID:16826524 PMID:17576681 PMID:18414213 More... NCBI chr14:66,370,685...66,390,397
Ensembl chr14:66,372,488...66,390,397 		JBrowse link
G Chrna4 cholinergic receptor, nicotinic, alpha polypeptide 4 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 2:180,664,104...180,685,339
Ensembl chr 2:180,660,173...180,685,339 		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: Nocturnal frontal lobe epilepsy ClinVar
RGD		 PMID:9536098 PMID:11062464 PMID:11104662 PMID:11906688 PMID:16199547 More... RGD:737782 NCBI chr 3:89,660,755...89,671,939
Ensembl chr 3:89,653,502...89,671,939 		JBrowse link
G Clu clusterin ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr14:66,206,093...66,218,992
Ensembl chr14:66,205,932...66,218,996 		JBrowse link
G Col20a1 collagen, type XX, alpha 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 2:180,626,629...180,659,338
Ensembl chr 2:180,628,328...180,660,156 		JBrowse link
G Col9a3 collagen, type IX, alpha 3 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 2:180,239,895...180,263,985
Ensembl chr 2:180,239,583...180,263,982 		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 3:19,747,565...19,749,560
Ensembl chr 3:19,747,565...19,749,560 		JBrowse link
G Depdc5 DEP domain containing 5 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 chr 5:33,020,996...33,151,581
Ensembl chr 5:33,021,045...33,151,580 		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 2:180,299,757...180,351,886
Ensembl chr 2:180,299,757...180,351,792 		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:25921748 PMID:28492532 NCBI chr 2:181,162,141...181,194,679
Ensembl chr 2:181,162,278...181,196,926 		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 2:180,783,551...180,798,808
Ensembl chr 2:180,789,446...180,798,807 		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 chr14:65,767,895...65,830,561
Ensembl chr14:65,767,898...65,830,524 		JBrowse link
G Ephx2 epoxide hydrolase 2, cytoplasmic ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr14:66,321,821...66,361,971
Ensembl chr14:66,321,823...66,361,949 		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 chr14:66,056,476...66,071,418
Ensembl chr14:66,056,487...66,071,443 		JBrowse link
G Extl3 exostosin-like glycosyltransferase 3 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr14:65,289,508...65,387,322
Ensembl chr14:65,289,509...65,387,304 		JBrowse link
G Fbxo16 F-box protein 16 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr14:65,504,067...65,561,422
Ensembl chr14:65,504,067...65,561,422 		JBrowse link
G Fndc11 fibronectin type III domain containing 11 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:25921748 PMID:28492532 NCBI chr 2:180,854,385...180,864,649
Ensembl chr 2:180,861,806...180,864,647 		JBrowse link
G Fzd3 frizzled class receptor 3 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr14:65,429,890...65,499,912
Ensembl chr14:65,429,898...65,499,912 		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:33391346 NCBI chr11:41,801,017...41,891,684
Ensembl chr11:41,801,030...41,891,684 		JBrowse link
G Gid8 GID complex subunit 8 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 2:180,351,874...180,363,392
Ensembl chr 2:180,351,910...180,360,526 		JBrowse link
G Gmeb2 glucocorticoid modulatory element binding protein 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:25921748 PMID:28492532 NCBI chr 2:180,893,240...180,933,481
Ensembl chr 2:180,893,242...180,929,828 		JBrowse link
G Helz2 helicase with zinc finger 2, transcriptional coactivator ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:25921748 PMID:28492532 NCBI chr 2:180,869,408...180,883,851
Ensembl chr 2:180,869,408...180,883,820 		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 2:180,717,372...180,777,368
Ensembl chr 2:180,717,372...180,777,093 		JBrowse link
G Lgi1 leucine-rich repeat LGI family, member 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar NCBI chr19:38,253,135...38,297,387
Ensembl chr19:38,252,984...38,300,662 		JBrowse link
G Lime1 Lck interacting transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:25921748 PMID:28492532 NCBI chr 2:181,023,028...181,025,421
Ensembl chr 2:181,021,871...181,025,421 		JBrowse link
G Mef2c myocyte enhancer factor 2C ISO ClinVar Annotator: match by term: Autosomal dominant epilepsy ClinVar NCBI chr13:83,652,136...83,815,197
Ensembl chr13:83,652,153...83,815,199 		JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Autosomal dominant epilepsy ClinVar PMID:28492532 NCBI chr 4:148,533,039...148,642,142
Ensembl chr 4:148,533,068...148,642,140 		JBrowse link
G Nkain4 Na+/K+ transporting ATPase interacting 4 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 2:180,576,559...180,596,730
Ensembl chr 2:180,576,565...180,596,492 		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 chr14:65,830,901...65,885,893
Ensembl chr14:65,835,995...65,885,980 		JBrowse link
G Oplah 5-oxoprolinase (ATP-hydrolysing) ISO ClinVar Annotator: match by term: Nocturnal frontal lobe epilepsy ClinVar PMID:25741868 NCBI chr15:76,180,803...76,215,381
Ensembl chr15:76,180,801...76,212,215 		JBrowse link
G Pbk PDZ binding kinase ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr14:66,043,337...66,055,271
Ensembl chr14:66,043,286...66,055,271 		JBrowse link
G Pnoc prepronociceptin ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr14:65,638,931...65,662,908
Ensembl chr14:65,638,122...65,662,921 		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 2:180,828,615...180,830,297
Ensembl chr 2:180,829,040...180,830,564 		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 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26339676 PMID:26467025 More... NCBI chr12:103,160,712...103,208,967
Ensembl chr12:103,163,167...103,208,409 		JBrowse link
G Ptk6 PTK6 protein tyrosine kinase 6 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:25921748 PMID:28492532 NCBI chr 2:180,836,917...180,845,408
Ensembl chr 2:180,835,514...180,844,582 		JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:25921748 PMID:28492532 NCBI chr 2:180,961,504...180,998,409
Ensembl chr 2:180,961,532...180,998,409 		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 chr14:66,156,844...66,191,427
Ensembl chr14:66,156,843...66,191,384 		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 chr14:65,903,852...66,002,275
Ensembl chr14:65,903,852...66,002,275 		JBrowse link
G Scn1a sodium channel, voltage-gated, type I, alpha 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 2:66,101,125...66,271,181
Ensembl chr 2:66,101,122...66,271,184 		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 2:180,363,989...180,384,073
Ensembl chr 2:180,367,056...180,384,073 		JBrowse link
G Slc6a1 solute carrier family 6 (neurotransmitter transporter, GABA), member 1 ISO ClinVar Annotator: match by term: Autosomal dominant epilepsy ClinVar PMID:25865495 PMID:27959697 PMID:28191889 PMID:28492532 PMID:34006619 NCBI chr 6:114,259,735...114,294,491
Ensembl chr 6:114,259,596...114,294,493 		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:25921748 PMID:28492532 NCBI chr 2:180,847,356...180,854,964
Ensembl chr 2:180,847,355...180,854,978 		JBrowse link
G Stmn3 stathmin-like 3 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:25921748 PMID:28492532 NCBI chr 2:180,948,252...180,956,293
Ensembl chr 2:180,948,252...180,956,293 		JBrowse link
G Syngap1 synaptic Ras GTPase activating protein 1 homolog (rat) ISO ClinVar Annotator: match by term: Autosomal dominant epilepsy ClinVar PMID:23161826 PMID:25741868 PMID:26989088 PMID:28492532 NCBI chr17:27,160,186...27,191,408
Ensembl chr17:27,160,227...27,191,408 		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 chr17:24,394,405...24,424,536
Ensembl chr17:24,394,405...24,424,536 		JBrowse link
G Tcfl5 transcription factor-like 5 (basic helix-loop-helix) ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 2:180,263,749...180,284,540
Ensembl chr 2:180,263,749...180,284,501 		JBrowse link
G Tpd52l2 tumor protein D52-like 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:25921748 PMID:28492532 NCBI chr 2:181,138,951...181,160,103
Ensembl chr 2:181,138,935...181,159,759 		JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Autosomal dominant epilepsy ClinVar NCBI chr 2:28,531,005...28,581,183
Ensembl chr 2:28,531,240...28,581,179 		JBrowse link
G Ythdf1 YTH N6-methyladenosine RNA binding protein 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 2:180,546,170...180,562,729
Ensembl chr 2:180,546,170...180,562,742 		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:25921748 PMID:28492532 NCBI chr 2:181,012,105...181,134,776
Ensembl chr 2:181,029,555...181,101,219 		JBrowse link
G Zfp395 zinc finger protein 395 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr14:65,595,796...65,636,379
Ensembl chr14:65,595,838...65,636,379 		JBrowse link
G Zgpat zinc finger, CCCH-type with G patch domain ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:25921748 PMID:28492532 NCBI chr 2:181,006,724...181,022,586
Ensembl chr 2:181,006,721...181,025,421 		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 polypeptide 4 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 1
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:7476881 PMID:7550350 PMID:7647781 PMID:8696332 PMID:8833159 More... NCBI chr 2:180,664,104...180,685,339
Ensembl chr 2:180,660,173...180,685,339 		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 3:89,660,755...89,671,939
Ensembl chr 3:89,653,502...89,671,939 		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
IAGP		 ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 3 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, type 3
CTD Direct Evidence: marker/mechanism
OMIM:605375		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:11062464 PMID:11094099 PMID:11104662 PMID:11906688 More... NCBI chr 3:89,660,755...89,671,939
Ensembl chr 3:89,653,502...89,671,939 		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, nocturnal frontal lobe, type 4
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16222669 PMID:16826524 PMID:17576681 PMID:18414213 More... NCBI chr14:66,370,685...66,390,397
Ensembl chr14:66,372,488...66,390,397 		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, sub-family A member 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 2:25,318,611...25,338,556
Ensembl chr 2:25,318,715...25,338,552 		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 2:26,483,069...26,494,429
Ensembl chr 2:26,483,069...26,494,429 		JBrowse link
G Ajm1 apical junction component 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 2:25,465,428...25,471,760
Ensembl chr 2:25,465,428...25,471,769 		JBrowse link
G C8g complement component 8, gamma polypeptide ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 2:25,388,662...25,391,731
Ensembl chr 2:25,388,663...25,391,731 		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 2:25,816,850...25,873,574
Ensembl chr 2:25,816,850...25,873,294 		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 2:26,242,199...26,250,957
Ensembl chr 2:26,242,188...26,250,930 		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 2:25,498,641...25,507,690
Ensembl chr 2:25,498,647...25,507,690 		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 2:25,346,855...25,348,789
Ensembl chr 2:25,346,850...25,348,788 		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 2:26,518,469...26,526,509
Ensembl chr 2:26,518,469...26,526,509 		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 2:26,238,130...26,242,122
Ensembl chr 2:26,238,133...26,242,122 		JBrowse link
G Dpp7 dipeptidylpeptidase 7 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 2:25,242,302...25,246,365
Ensembl chr 2:25,242,288...25,246,371 		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 2:25,447,838...25,452,096
Ensembl chr 2:25,447,859...25,452,094 		JBrowse link
G Egfl7 EGF-like domain 7 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 2:26,471,095...26,482,694
Ensembl chr 2:26,470,026...26,483,132 		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 2:25,285,886...25,291,335
Ensembl chr 2:25,285,886...25,291,333 		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 2:26,272,810...26,279,352
Ensembl chr 2:26,272,814...26,279,328 		JBrowse link
G Fbxw5 F-box and WD-40 domain protein 5 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 2:25,390,762...25,395,482
Ensembl chr 2:25,390,762...25,395,483 		JBrowse link
G Fut7 fucosyltransferase 7 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 2:25,312,363...25,316,386
Ensembl chr 2:25,313,279...25,316,386 		JBrowse link
G Gpsm1 G-protein signalling modulator 1 (AGS3-like, C. elegans) ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 2:26,204,623...26,238,249
Ensembl chr 2:26,205,527...26,238,249 		JBrowse link
G Grin1 glutamate receptor, ionotropic, NMDA1 (zeta 1) ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 2:25,181,189...25,209,199
Ensembl chr 2:25,181,193...25,209,199 		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 2:26,286,261...26,299,313
Ensembl chr 2:26,286,261...26,299,215 		JBrowse link
G Kcnt1 potassium 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:18479385 PMID:20301348 More... NCBI chr 2:25,753,807...25,808,285
Ensembl chr 2:25,753,746...25,808,285 		JBrowse link
G Lcn10 lipocalin 10 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 2:25,572,738...25,576,093
Ensembl chr 2:25,572,738...25,576,093 		JBrowse link
G Lcn12 lipocalin 12 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 2:25,380,857...25,384,073
Ensembl chr 2:25,380,857...25,383,923 		JBrowse link
G Lcn15 lipocalin 15 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 2:25,534,156...25,538,813 JBrowse link
G Lcn6 lipocalin 6 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 2:25,566,650...25,571,620
Ensembl chr 2:25,566,798...25,571,620 		JBrowse link
G Lcn8 lipocalin 8 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 2:25,543,130...25,546,229
Ensembl chr 2:25,543,132...25,546,229 		JBrowse link
G Lhx3 LIM homeobox protein 3 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 2:26,090,224...26,098,261
Ensembl chr 2:26,090,224...26,098,301 		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 2:25,453,124...25,461,328
Ensembl chr 2:25,453,127...25,464,857 		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 2:25,222,742...25,242,225
Ensembl chr 2:25,222,350...25,242,224 		JBrowse link
G Mir126a microRNA 126a ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 2:26,481,369...26,481,441
Ensembl chr 2:26,481,369...26,481,441 		JBrowse link
G Nacc2 nucleus accumbens associated 2, BEN and BTB (POZ) domain containing ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 2:25,945,547...26,012,823
Ensembl chr 2:25,945,547...26,013,232 		JBrowse link
G Notch1 notch 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675 		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 2:25,293,067...25,299,504
Ensembl chr 2:25,289,363...25,299,506 		JBrowse link
G Paxx non-homologous end joining factor ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 2:25,345,132...25,352,666
Ensembl chr 2:25,345,153...25,351,106 		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 2:25,463,442...25,465,528
Ensembl chr 2:25,463,442...25,465,236 		JBrowse link
G Pmpca peptidase (mitochondrial processing) alpha ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 2:26,275,554...26,287,134
Ensembl chr 2:26,279,351...26,287,134 		JBrowse link
G Ptgds prostaglandin D2 synthase (brain) ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 2:25,356,723...25,360,080
Ensembl chr 2:25,356,721...25,360,058 		JBrowse link
G Qsox2 quiescin Q6 sulfhydryl oxidase 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 2:26,099,136...26,127,411
Ensembl chr 2:26,098,649...26,127,537 		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 2:25,473,029...25,498,493
Ensembl chr 2:25,473,030...25,498,533 		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 2:25,261,974...25,268,225
Ensembl chr 2:25,262,333...25,268,225 		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 2:26,299,443...26,336,138
Ensembl chr 2:26,299,443...26,335,228 		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 2:26,252,777...26,270,666
Ensembl chr 2:26,252,777...26,270,665 		JBrowse link
G Snhg7 small nucleolar RNA host gene 7 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 2:26,527,188...26,530,256
Ensembl chr 2:26,527,180...26,530,295 		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 chr15:36,175,629...36,235,767
Ensembl chr15:36,178,245...36,235,767 		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 2:25,510,078...25,512,059
Ensembl chr 2:25,510,079...25,512,017 		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 2:26,026,819...26,030,518
Ensembl chr 2:26,026,826...26,030,533 		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 2:25,407,994...25,436,952
Ensembl chr 2:25,407,994...25,436,952 		JBrowse link
G Uap1l1 UDP-N-acteylglucosamine pyrophosphorylase 1-like 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 2:25,251,501...25,255,695
Ensembl chr 2:25,249,901...25,255,694 		JBrowse link
G Ubac1 ubiquitin associated domain containing 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:28492532 NCBI chr 2:25,886,970...25,911,793
Ensembl chr 2:25,888,555...25,911,759 		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 chr 8:41,793,683...41,850,681
Ensembl chr 8:41,793,234...41,827,810 		JBrowse link
G Chd2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:28492532 PMID:29358611 NCBI chr 7:73,076,400...73,191,494
Ensembl chr 7:73,076,386...73,191,578 		JBrowse link
G Cntnap2 contactin associated protein-like 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:18179895 PMID:22872700 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 6:45,036,995...47,278,330
Ensembl chr 6:45,036,291...47,281,147 		JBrowse link
G Cpa6 carboxypeptidase A6 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:21922598 PMID:23105115 PMID:25741868 PMID:26467025 PMID:26648591 More... NCBI chr 1:10,366,016...10,790,277
Ensembl chr 1:10,394,945...10,790,170 		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 chr10:78,261,504...78,263,456
Ensembl chr10:78,261,503...78,263,456 		JBrowse link
G Depdc5 DEP domain containing 5 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:24591017 PMID:25366275 PMID:25741868 PMID:26505888 PMID:28166811 More... NCBI chr 5:33,020,996...33,151,581
Ensembl chr 5:33,021,045...33,151,580 		JBrowse link
G Epm2a epilepsy, progressive myoclonic epilepsy, type 2 gene alpha ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr10:11,218,435...11,335,408
Ensembl chr10:11,219,148...11,335,388 		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 chr11:41,801,017...41,891,684
Ensembl chr11:41,801,030...41,891,684 		JBrowse link
G Grin1 glutamate receptor, ionotropic, NMDA1 (zeta 1) ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 2:25,181,189...25,209,199
Ensembl chr 2:25,181,193...25,209,199 		JBrowse link
G Grin2a glutamate receptor, ionotropic, NMDA2A (epsilon 1) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Rolandic epilepsy		 CTD
ClinVar		 PMID:7574460 PMID:16199547 PMID:18414213 PMID:23933818 PMID:23933819 More... NCBI chr16:9,385,765...9,813,744
Ensembl chr16:9,385,762...9,813,424 		JBrowse link
G Ier3ip1 immediate early response 3 interacting protein 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:29358611 NCBI chr18:77,017,723...77,029,310
Ensembl chr18:77,017,713...77,029,308 		JBrowse link
G Kcnq2 potassium voltage-gated channel, subfamily Q, member 2 ISO ClinVar Annotator: match by term: Benign Rolandic epilepsy ClinVar PMID:18625963 NCBI chr 2:180,717,372...180,777,368
Ensembl chr 2:180,717,372...180,777,093 		JBrowse link
G Kcnq3 potassium voltage-gated channel, subfamily Q, member 3 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:18625963 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr15:65,858,223...66,158,485
Ensembl chr15:65,858,236...66,158,491 		JBrowse link
G Kcnt1 potassium channel, subfamily T, member 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr 2:25,753,807...25,808,285
Ensembl chr 2:25,753,746...25,808,285 		JBrowse link
G Maf MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532 PMID:29358611 NCBI chr 8:116,429,992...116,433,633
Ensembl chr 8:116,409,681...116,434,533 		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:132,483,609...132,589,802
Ensembl chr  X:132,483,609...132,589,736 		JBrowse link
G Plcb1 phospholipase C, beta 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 2:134,628,084...135,317,178
Ensembl chr 2:134,627,987...135,317,178 		JBrowse link
G Prickle1 prickle planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:21901791 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr15:93,396,992...93,494,147
Ensembl chr15:93,396,995...93,493,772 		JBrowse link
G Prickle2 prickle planar cell polarity protein 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532 PMID:29358611 NCBI chr 6:92,347,876...92,683,233
Ensembl chr 6:92,347,889...92,683,136 		JBrowse link
G Rbfox1 RNA binding protein, fox-1 homolog (C. elegans) 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:24039908 PMID:25741868 PMID:26467025 PMID:28346479 PMID:28492532 More... NCBI chr16:5,702,566...7,230,344
Ensembl chr16:5,703,219...7,229,390 		JBrowse link
G Rbfox3 RNA binding protein, fox-1 homolog (C. elegans) 3 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr11:118,380,586...118,802,423
Ensembl chr11:118,380,588...118,802,423 		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 5:22,089,452...22,549,703
Ensembl chr 5:22,089,452...22,549,700 		JBrowse link
G Scarb2 scavenger receptor class B, member 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:28492532 PMID:29358611 NCBI chr 5:92,589,170...92,653,516
Ensembl chr 5:92,589,173...92,654,692 		JBrowse link
G Scn1a sodium channel, voltage-gated, type I, alpha ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:11254445 PMID:12610651 PMID:18021921 PMID:19200853 PMID:19522081 More... NCBI chr 2:66,101,125...66,271,181
Ensembl chr 2:66,101,122...66,271,184 		JBrowse link
G Scn1b sodium channel, voltage-gated, type I, beta ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:28492532 PMID:29358611 PMID:29758173 NCBI chr 7:30,815,949...30,826,436
Ensembl chr 7:30,815,949...30,826,428 		JBrowse link
G Scn2a sodium channel, voltage-gated, type II, alpha ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:28492532 PMID:29358611 NCBI chr 2:65,451,108...65,597,791
Ensembl chr 2:65,451,115...65,597,791 		JBrowse link
G Scn9a sodium channel, voltage-gated, type IX, alpha ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:18414213 PMID:20478850 PMID:23895530 PMID:24776970 PMID:24848745 More... NCBI chr 2:66,310,424...66,465,456
Ensembl chr 2:66,310,424...66,465,306 		JBrowse link
G Slc2a1 solute carrier family 2 (facilitated glucose transporter), member 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 4:118,966,001...118,994,527
Ensembl chr 4:118,965,908...118,995,180 		JBrowse link
G Slc6a1 solute carrier family 6 (neurotransmitter transporter, GABA), member 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:28492532 PMID:29358611 NCBI chr 6:114,259,735...114,294,491
Ensembl chr 6:114,259,596...114,294,493 		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 4:124,960,465...124,967,836
Ensembl chr 4:124,960,465...124,967,835 		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 2:29,855,572...29,921,463
Ensembl chr 2:29,855,572...29,921,463 		JBrowse link
G Strada STE20-related kinase adaptor alpha ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532 PMID:29358611 NCBI chr11:106,053,739...106,084,460
Ensembl chr11:106,054,156...106,092,994 		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 4:118,219,937...118,266,483
Ensembl chr 4:118,219,940...118,266,470 		JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:24033266 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr17:24,394,405...24,424,536
Ensembl chr17:24,394,405...24,424,536 		JBrowse link
G Wwox WW domain-containing oxidoreductase ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr 8:115,166,377...116,079,451
Ensembl chr 8:115,166,395...116,079,447 		JBrowse link
complex partial epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn3a sodium channel, voltage-gated, type III, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18242854 NCBI chr 2:65,287,462...65,397,935
Ensembl chr 2:65,288,607...65,397,971 		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 chr16:84,751,236...84,972,187
Ensembl chr16:84,746,573...84,970,654 		JBrowse link
G Depdc5 DEP domain containing 5 ISO ClinVar Annotator: match by term: Familial focal epilepsy with variable foci ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 More... NCBI chr 5:33,020,996...33,151,581
Ensembl chr 5:33,021,045...33,151,580 		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 9:107,419,405...107,422,905
Ensembl chr 9:107,419,425...107,422,905 		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 channel, voltage-sensitive 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 4:141,131,668...141,143,440
Ensembl chr 4:141,131,664...141,143,325 		JBrowse link
G Depdc5 DEP domain containing 5 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:16199547 PMID:17576681 PMID:20864493 PMID:23542697 More... NCBI chr 5:33,020,996...33,151,581
Ensembl chr 5:33,021,045...33,151,580 		JBrowse link
G Nprl2 NPR2 like, GATOR1 complex subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:107,419,405...107,422,905
Ensembl chr 9:107,419,425...107,422,905 		JBrowse link
G Nprl3 nitrogen permease regulator-like 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:32,181,963...32,217,707
Ensembl chr11:32,175,628...32,217,707 		JBrowse link
G Scn3a sodium channel, voltage-gated, type III, alpha ISO ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:65,287,462...65,397,935
Ensembl chr 2:65,288,607...65,397,971 		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 channel, voltage-sensitive 2 ISO ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 2 ClinVar PMID:25741868 NCBI chr16:20,521,185...20,536,496
Ensembl chr16:20,521,714...20,536,496 		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:30359775 More... NCBI chr 4:43,629,015...43,651,437
Ensembl chr 4:43,631,935...43,651,244 		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 9:107,419,405...107,422,905
Ensembl chr 9:107,419,425...107,422,905 		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:30359775 More... NCBI chr 4:43,651,330...43,653,594
Ensembl chr 4:43,651,335...43,653,594 		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 Alpha-re alpha-globin locus regulatory region ISO ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 3 | ClinVar Annotator: match by term: NPRL3-related condition ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:26285051 More... NCBI chr11:32,181,303...32,220,102 JBrowse link
G Nprl3 nitrogen permease regulator-like 3 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 chr11:32,181,963...32,217,707
Ensembl chr11:32,175,628...32,217,707 		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 channel, voltage-gated, type III, alpha ISO ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 4 | ClinVar Annotator: match by term: SCN3A- Related Disorder | ClinVar Annotator: match by term: SCN3A-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18242854 PMID:20420834 PMID:24157691 More... NCBI chr 2:65,287,462...65,397,935
Ensembl chr 2:65,288,607...65,397,971 		JBrowse link
Familial Temporal Epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chr10:41,351,693...41,363,026
Ensembl chr10:41,352,310...41,363,028 		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 chr19:38,043,423...38,062,873
Ensembl chr19:38,043,459...38,062,871 		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 chr19:38,085,527...38,102,711
Ensembl chr19:38,085,519...38,102,711 		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 chr19:38,176,925...38,213,078
Ensembl chr19:38,176,929...38,212,604 		JBrowse link
G Grin2a glutamate receptor, ionotropic, NMDA2A (epsilon 1) ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 ClinVar PMID:25741868 NCBI chr16:9,385,765...9,813,744
Ensembl chr16:9,385,762...9,813,424 		JBrowse link
G Lgi1 leucine-rich repeat LGI family, member 1 ISO
IAGP		 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
CTD Direct Evidence: marker/mechanism
OMIM:600512		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:11810107 PMID:11978770 PMID:12205652 PMID:12601709 More... NCBI chr19:38,253,135...38,297,387
Ensembl chr19:38,252,984...38,300,662 		JBrowse link
G Mical1 microtubule associated monooxygenase, calponin and LIM domain containing 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr10:41,351,693...41,363,026
Ensembl chr10:41,352,310...41,363,028 		JBrowse link
G Myof myoferlin ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 ClinVar PMID:24206907 PMID:28492532 NCBI chr19:37,887,484...38,032,025
Ensembl chr19:37,887,484...38,032,025 		JBrowse link
G Pde6c phosphodiesterase 6C, cGMP specific, cone, alpha prime ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 ClinVar PMID:24206907 PMID:28492532 NCBI chr19:38,121,220...38,172,391
Ensembl chr19:38,121,229...38,172,406 		JBrowse link
G Rbp4 retinol binding protein 4, plasma ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 ClinVar PMID:24206907 PMID:28492532 NCBI chr19:38,105,068...38,113,769
Ensembl chr19:38,105,077...38,113,729 		JBrowse link
G Reln reelin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1
ClinVar Annotator: match by term: Autosomal dominant epilepsy with auditory features | ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1		 CTD
ClinVar		 PMID:2564880 PMID:14515139 PMID:14593429 PMID:18414213 PMID:20697953 More... NCBI chr 5:22,089,452...22,549,703
Ensembl chr 5:22,089,452...22,549,700 		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 1:10,366,016...10,790,277
Ensembl chr 1:10,394,945...10,790,170 		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, sub-family 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 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CPA6-related condition | ClinVar Annotator: match by term: Familial temporal lobe epilepsy 5		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:17576681 PMID:21922598 PMID:23105115 PMID:25741868 More... NCBI chr 1:10,366,016...10,790,277
Ensembl chr 1:10,394,945...10,790,170 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10973257 PMID:14515139 PMID:14593429 PMID:18414213 PMID:20697953 More... NCBI chr 5:22,089,452...22,549,703
Ensembl chr 5:22,089,452...22,549,700 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:17576681 PMID:25691535 PMID:25741868 PMID:28492532 NCBI chr19:3,459,915...3,464,544
Ensembl chr19:3,459,915...3,464,544 		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 receptor, ionotropic, NMDA2A (epsilon 1) 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7574460 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr16:9,385,765...9,813,744
Ensembl chr16:9,385,762...9,813,424 		JBrowse link
G Sptan1 spectrin alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:29,855,572...29,921,463
Ensembl chr 2:29,855,572...29,921,463 		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 polypeptide 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12823585 PMID:14996991 PMID:17881519 NCBI chr 2:180,664,104...180,685,339
Ensembl chr 2:180,660,173...180,685,339 		JBrowse link
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:14996991 NCBI chr 3:89,660,755...89,671,939
Ensembl chr 3:89,653,502...89,671,939 		JBrowse link
G Kcnt1 potassium channel, subfamily T, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23086396 NCBI chr 2:25,753,807...25,808,285
Ensembl chr 2:25,753,746...25,808,285 		JBrowse link
G Slc4a10 solute carrier family 4, sodium bicarbonate cotransporter-like, member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18413482 NCBI chr 2:61,876,815...62,157,087
Ensembl chr 2:61,876,806...62,157,074 		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 3:89,660,755...89,671,939
Ensembl chr 3:89,653,502...89,671,939 		JBrowse link
G Scn8a sodium channel, voltage-gated, type VIII, alpha ISO ClinVar Annotator: match by term: Focal clonic seizure ClinVar PMID:25741868 NCBI chr15:100,766,600...100,943,819
Ensembl chr15:100,767,739...100,943,819 		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 ADP-ribosylation factor-like 13A ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:133,088,250...133,108,779
Ensembl chr  X:133,088,250...133,108,777 		JBrowse link
G Btk Bruton agammaglobulinemia tyrosine kinase ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:133,443,083...133,484,366
Ensembl chr  X:133,443,085...133,484,319 		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:133,206,777...133,263,853
Ensembl chr  X:133,208,833...133,263,388 		JBrowse link
G Cstf2 cleavage stimulation factor, 3' pre-RNA subunit 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:132,959,925...132,987,571
Ensembl chr  X:132,959,936...132,987,568 		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:133,304,868...133,357,323
Ensembl chr  X:133,305,300...133,357,322 		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:133,488,912...133,501,707
Ensembl chr  X:133,488,898...133,501,874 		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:132,987,170...133,038,455
Ensembl chr  X:132,987,170...133,122,705 		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:133,486,403...133,488,811
Ensembl chr  X:133,486,403...133,488,811 		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:23352160 PMID:23831613 PMID:23871722 More... NCBI chr  X:132,809,155...132,833,195
Ensembl chr  X:132,809,175...132,833,195 		JBrowse link
G Sytl4 synaptotagmin-like 4 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:132,837,134...132,882,569
Ensembl chr  X:132,837,134...132,882,561 		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:133,360,865...133,377,254
Ensembl chr  X:133,360,867...133,377,239 		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:133,438,005...133,442,419
Ensembl chr  X:133,438,005...133,442,614 		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:133,195,974...133,206,718
Ensembl chr  X:133,195,974...133,206,718 		JBrowse link
G Trmt2b TRM2 tRNA methyltransferase 2B ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:133,123,704...133,177,770
Ensembl chr  X:133,123,088...133,177,733 		JBrowse link
G Xkrx X-linked Kx blood group related, X-linked ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:133,049,786...133,086,747
Ensembl chr  X:133,049,792...133,062,825 		JBrowse link
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp | ClinVar Annotator: match by term: Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10072049 PMID:18414213 PMID:20727515 PMID:23526554 PMID:24033266 More... NCBI chr17:24,394,405...24,424,536
Ensembl chr17:24,394,405...24,424,536 		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, sub-family B member 1A ISO mRNA:increased expression:dentate gyrus (rat) RGD PMID:15380564 RGD:1358367 NCBI chr 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575 		JBrowse link
G Abcb1b ATP-binding cassette, sub-family B member 1B ISO RGD PMID:16928449 RGD:1598560 NCBI chr 5:8,848,147...8,916,314
Ensembl chr 5:8,848,147...8,916,315 		JBrowse link
G Actb actin, beta ISO protein:decreased expression:forebrain, postsynaptic density RGD PMID:11226670 RGD:5147998 NCBI chr 5:142,888,870...142,892,509
Ensembl chr 5:142,888,870...142,892,509 		JBrowse link
G Add1 adducin 1 ISO protein:decreased expression:forebrain, postsynaptic density RGD PMID:11226670 RGD:5147998 NCBI chr 5:34,731,008...34,789,652
Ensembl chr 5:34,731,008...34,789,652 		JBrowse link
G Adk adenosine kinase ISO RGD PMID:21635241 PMID:21635241 RGD:6482302, RGD:6482302 NCBI chr14:21,102,622...21,498,637
Ensembl chr14:21,102,642...21,498,637 		JBrowse link
G Agt angiotensinogen ISO RGD PMID:22542773 RGD:8549466 NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445 		JBrowse link
G Ak2 adenylate kinase 2 ISO RGD PMID:22246993 RGD:11100024 NCBI chr 4:128,887,017...128,905,322
Ensembl chr 4:128,885,751...128,905,322 		JBrowse link
G Aqp4 aquaporin 4 ISO DNA:SNPs: :multiple (human) RGD PMID:19864112 RGD:5148036 NCBI chr18:15,522,451...15,544,039
Ensembl chr18:15,522,553...15,544,039 		JBrowse link
G Arhgap33 Rho GTPase activating protein 33 HEP protein:increased phosphorylation:hippocampus RGD PMID:30996354 RGD:126848765 NCBI chr 7:30,221,651...30,234,596
Ensembl chr 7:30,221,651...30,234,485 		JBrowse link
G Avp arginine vasopressin ISO RGD PMID:12438923 RGD:1579871 NCBI chr 2:130,422,540...130,424,508
Ensembl chr 2:130,422,540...130,424,474 		JBrowse link
G Azgp1 alpha-2-glycoprotein 1, zinc ISO protein:decreased expression:brain neuron RGD PMID:28576733 RGD:153350152 NCBI chr 5:137,979,783...137,988,495
Ensembl chr 5:137,979,782...137,988,495 		JBrowse link
G Bdkrb1 bradykinin receptor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15196965 NCBI chr12:105,570,350...105,571,770
Ensembl chr12:105,569,344...105,571,687 		JBrowse link
G Bdkrb2 bradykinin receptor, beta 2 ISO CTD Direct Evidence: therapeutic CTD PMID:15196965 NCBI chr12:105,529,431...105,561,503
Ensembl chr12:105,529,485...105,561,496 		JBrowse link
G Cabp1 calcium binding protein 1 ISO protein:altered expression:brain RGD PMID:12941472 RGD:14399955 NCBI chr 5:115,306,750...115,332,440
Ensembl chr 5:115,306,748...115,332,440 		JBrowse link
G Cacna1a calcium channel, voltage-dependent, P/Q type, alpha 1A subunit ISO RGD PMID:10448056 RGD:10054441 NCBI chr 8:85,065,257...85,366,880
Ensembl chr 8:85,065,268...85,366,875 		JBrowse link
G Casp2 caspase 2 disease_progression ISO RGD PMID:17627033 RGD:4107076 NCBI chr 6:42,241,942...42,259,442
Ensembl chr 6:42,241,919...42,259,442 		JBrowse link
G Cdc42 cell division cycle 42 ISO RGD PMID:19700661 RGD:5688272 NCBI chr 4:137,047,011...137,085,007
Ensembl chr 4:137,047,007...137,085,031 		JBrowse link
G Cnr1 cannabinoid receptor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:20498848 NCBI chr 4:33,923,171...33,948,831
Ensembl chr 4:33,924,593...33,948,831 		JBrowse link
G Crh corticotropin releasing hormone ISO mRNA:increased expression:dentate gyrus (rat) RGD PMID:9037416 RGD:5508845 NCBI chr 3:19,747,565...19,749,560
Ensembl chr 3:19,747,565...19,749,560 		JBrowse link
G Crhbp corticotropin releasing hormone binding protein ISO mRNA:increased expression:dentate gyrus (rat) RGD PMID:9037416 RGD:5508845 NCBI chr13:95,567,884...95,581,339
Ensembl chr13:95,567,879...95,581,432 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 ISO RGD PMID:28104461 RGD:13463105 NCBI chr 1:128,515,936...128,520,036
Ensembl chr 1:128,515,936...128,520,030 		JBrowse link
G Cyfip1 cytoplasmic FMR1 interacting protein 1 ISO mRNA, protein:increased expression:temporal lobe (human) RGD PMID:26000921 RGD:11568065 NCBI chr 7:55,491,556...55,582,381
Ensembl chr 7:55,491,493...55,582,350 		JBrowse link
G Dbn1 drebrin 1 ISO mRNA,protein:altered expression:hippocampus: RGD PMID:21240918 RGD:10398806 NCBI chr13:55,621,241...55,635,874
Ensembl chr13:55,621,242...55,635,924 		JBrowse link
G Dcx doublecortin ISO protein:decreased expression:hippocampus RGD PMID:20888264 RGD:12904713 NCBI chr  X:142,638,838...142,716,392
Ensembl chr  X:142,638,838...142,716,307 		JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO protein:decreased expression:forebrain, postsynaptic density RGD PMID:11226670 RGD:5147998 NCBI chr11:69,908,029...69,938,107
Ensembl chr11:69,907,768...69,938,348 		JBrowse link
G Dtnbp1 dystrobrevin binding protein 1 ISO protein:increased expression:temporal cortex
protein:increased expression:cerebral cortex, hippocampus		 RGD PMID:22337344 PMID:22337344 RGD:11251761, RGD:11251761 NCBI chr13:45,075,552...45,155,614
Ensembl chr13:45,075,551...45,155,623 		JBrowse link
G Foxo3 forkhead box O3 ISO protein:increased expression:hippocampus,mitochondrion: RGD PMID:23278239 RGD:10402198 NCBI chr10:42,057,841...42,152,691
Ensembl chr10:42,057,837...42,152,751 		JBrowse link
G Fyn Fyn proto-oncogene ISO protein:increased expression:forebrain, postsynaptic density RGD PMID:11226670 RGD:5147998 NCBI chr10:39,245,735...39,441,377
Ensembl chr10:39,244,851...39,441,377 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO RGD PMID:18381650 RGD:6484554 NCBI chr14:34,032,684...34,066,990
Ensembl chr14:34,032,684...34,067,222 		JBrowse link
G Glul glutamate-ammonia ligase ISO
IAGP		 protein:decreased expression, decreased activity:hippocampus (human) MouseDO
RGD		 PMID:14723991 PMID:18669513 RGD:2301555, RGD:2301554 NCBI chr 1:153,775,692...153,785,469
Ensembl chr 1:153,775,690...153,785,469 		JBrowse link
G Grik5 glutamate receptor, ionotropic, kainate 5 (gamma 2) ISO mRNA:increased expression:hippocampus
protein:decreased expression:forebrain, postsynaptic density		 RGD PMID:9848088 PMID:11226670 RGD:2316538, RGD:5147998 NCBI chr 7:24,709,274...24,775,421
Ensembl chr 7:24,709,274...24,771,771 		JBrowse link
G Grin2b glutamate receptor, ionotropic, NMDA2B (epsilon 2) ISO mRNA:decreased expression:hippocampus pyramidal layer (human) RGD PMID:9761317 RGD:13432039 NCBI chr 6:135,690,219...136,150,658
Ensembl chr 6:135,690,231...136,150,509 		JBrowse link
G Grm1 glutamate receptor, metabotropic 1 ISO protein:increased expression:forebrain, postsynaptic density
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:15694259 PMID:11226670 RGD:5147998 NCBI chr10:10,561,803...10,958,126
Ensembl chr10:10,561,803...10,958,100 		JBrowse link
G Grm2 glutamate receptor, metabotropic 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18804094 NCBI chr 9:106,521,733...106,533,308
Ensembl chr 9:106,520,294...106,533,281 		JBrowse link
G Grm3 glutamate receptor, metabotropic 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18804094 NCBI chr 5:9,535,235...9,776,087
Ensembl chr 5:9,535,541...9,775,170 		JBrowse link
G Grm4 glutamate receptor, metabotropic 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15694259 NCBI chr17:27,641,361...27,732,800
Ensembl chr17:27,641,361...27,740,377 		JBrowse link
G Grm5 glutamate receptor, metabotropic 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15694259 NCBI chr 7:87,233,212...87,784,271
Ensembl chr 7:87,233,376...87,784,115 		JBrowse link
G Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO mRNA:increased expression:hippocampus:
protein:decreased expression:hippocampus:		 RGD PMID:12890777 PMID:21905079 PMID:12890777 RGD:9686145, RGD:9686146, RGD:9686145 NCBI chr13:117,738,856...118,117,564
Ensembl chr13:117,738,856...118,123,954 		JBrowse link
G Hdac2 histone deacetylase 2 ISO protein:increased expression:timporal lobe: RGD PMID:21987499 RGD:9590259 NCBI chr10:36,850,293...36,877,885
Ensembl chr10:36,850,540...36,877,885 		JBrowse link
G Kcna1 potassium voltage-gated channel, shaker-related subfamily, member 1 IAGP MouseDO NCBI chr 6:126,613,426...126,622,764
Ensembl chr 6:126,617,360...126,623,347 		JBrowse link
G Kcnab1 potassium voltage-gated channel, shaker-related subfamily, beta member 1 susceptibility ISO DNA:snps, haplotypes:multiple (human) RGD PMID:21333500 RGD:9743959 NCBI chr 3:64,856,636...65,285,643
Ensembl chr 3:64,856,617...65,285,644 		JBrowse link
G Kcnc4 potassium voltage gated channel, Shaw-related subfamily, member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20971086 NCBI chr 3:107,345,614...107,367,617
Ensembl chr 3:107,345,619...107,366,868 		JBrowse link
G Kcnn4 potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 ISO RGD PMID:25016931 RGD:329969891 NCBI chr 7:24,069,750...24,084,635
Ensembl chr 7:24,069,688...24,086,115 		JBrowse link
G Kdr kinase insert domain protein receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17533168 NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118 		JBrowse link
G Map2 microtubule-associated protein 2 ISO protein:decreased expression:brain RGD PMID:22265658 RGD:6483080 NCBI chr 1:66,214,337...66,481,742
Ensembl chr 1:66,214,432...66,481,742 		JBrowse link
G Mapt microtubule-associated protein tau ISO RGD PMID:28595035 RGD:13800901 NCBI chr11:104,120,235...104,222,916
Ensembl chr11:104,122,216...104,222,916 		JBrowse link
G Mbp myelin basic protein ISO protein:decreased expression:hippocampus: RGD PMID:23727401 RGD:7327195 NCBI chr18:82,492,883...82,603,762
Ensembl chr18:82,493,271...82,603,762 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:cerebral cortex RGD PMID:22459050 RGD:8547829 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G mt-Co3 cytochrome c oxidase III, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:17092649 NCBI chr MT:8,607...9,390
Ensembl chr MT:8,607...9,390 		JBrowse link
G mt-Nd1 NADH dehydrogenase 1, mitochondrial IEP mRNA:increased expression:brain (mouse) RGD PMID:10581412 RGD:5490286 NCBI chr MT:2,751...3,707
Ensembl chr MT:2,751...3,707 		JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO associated with Status Epilepticus RGD PMID:19474323 RGD:10041000 NCBI chr 4:148,533,039...148,642,142
Ensembl chr 4:148,533,068...148,642,140 		JBrowse link
G Nos1 nitric oxide synthase 1, neuronal ISO protein:increased expression:forebrain, postsynaptic density RGD PMID:11226670 RGD:5147998 NCBI chr 5:118,004,904...118,096,905
Ensembl chr 5:117,919,097...118,096,905 		JBrowse link
G Npy neuropeptide Y treatment ISO CTD Direct Evidence: therapeutic CTD
RGD		 PMID:15716408 PMID:18477594 RGD:10434563 NCBI chr 6:49,799,690...49,806,487
Ensembl chr 6:49,799,690...49,806,487 		JBrowse link
G Npy1r neuropeptide Y receptor Y1 ISO RGD PMID:15337376 RGD:1642609 NCBI chr 8:67,149,595...67,159,452
Ensembl chr 8:67,149,844...67,159,444 		JBrowse link
G Npy2r neuropeptide Y receptor Y2 ISO CTD Direct Evidence: therapeutic CTD
RGD		 PMID:15716408 PMID:15337376 RGD:1642609 NCBI chr 3:82,445,688...82,455,404
Ensembl chr 3:82,445,690...82,455,391 		JBrowse link
G Nsf N-ethylmaleimide sensitive fusion protein ISO protein:increased expression:forebrain, postsynaptic density RGD PMID:11226670 RGD:5147998 NCBI chr11:103,712,608...103,844,882
Ensembl chr11:103,712,608...103,844,882 		JBrowse link
G Ntrk2 neurotrophic tyrosine kinase, receptor, type 2 ISO protein:increased expression:forebrain, postsynaptic density RGD PMID:11226670 RGD:5147998 NCBI chr13:58,954,363...59,281,782
Ensembl chr13:58,954,383...59,281,784 		JBrowse link
G P2rx4 purinergic receptor P2X, ligand-gated ion channel 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19084381 NCBI chr 5:122,845,581...122,867,802
Ensembl chr 5:122,845,607...122,867,801 		JBrowse link
G P2rx7 purinergic receptor P2X, ligand-gated ion channel, 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12121326 PMID:19084381 NCBI chr 5:122,781,990...122,830,399
Ensembl chr 5:122,781,974...122,829,495 		JBrowse link
G Pdyn prodynorphin ISO DNA:repeats:promoter: (human) RGD PMID:11835385 RGD:1358556 NCBI chr 2:129,528,469...129,541,858
Ensembl chr 2:129,528,485...129,541,764 		JBrowse link
G Pgf placental growth factor ISO protein:increased expression:temporal cortex RGD PMID:22079325 RGD:6483774 NCBI chr12:85,213,413...85,224,087
Ensembl chr12:85,213,409...85,224,564 		JBrowse link
G Prickle1 prickle planar cell polarity protein 1 treatment ISO protein:increased expression:hippocampus: RGD PMID:21905079 RGD:9686146 NCBI chr15:93,396,992...93,494,147
Ensembl chr15:93,396,995...93,493,772 		JBrowse link
G Ptprz1 protein tyrosine phosphatase receptor type Z, polypeptide 1 ISO RGD PMID:11292447 RGD:9589829 NCBI chr 6:22,875,302...23,052,915
Ensembl chr 6:22,875,501...23,052,915 		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 9:89,791,565...89,909,032
Ensembl chr 9:89,791,961...89,909,030 		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 5:22,089,452...22,549,703
Ensembl chr 5:22,089,452...22,549,700 		JBrowse link
G Rgma repulsive guidance molecule family member A ISO protein:decreased expression:CA3 field of hippocampus RGD PMID:25420768 RGD:9850144 NCBI chr 7:73,025,268...73,069,647
Ensembl chr 7:73,025,257...73,069,647 		JBrowse link
G Shh sonic hedgehog ISO protein:increased expression:temporal cortex
protein:increased expression:hippocampus, temporal cortex 		RGD PMID:21376786 PMID:21376786 RGD:12859046, RGD:12859046 NCBI chr 5:28,661,838...28,672,099
Ensembl chr 5:28,661,813...28,672,254 		JBrowse link
G Slc12a2 solute carrier family 12, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19674083 NCBI chr18:58,011,505...58,079,893
Ensembl chr18:58,011,750...58,079,893 		JBrowse link
G Slc12a5 solute carrier family 12, member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19674083 NCBI chr 2:164,802,766...164,841,651
Ensembl chr 2:164,802,722...164,841,651 		JBrowse link
G Slc1a1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11906504 NCBI chr19:28,812,535...28,891,360
Ensembl chr19:28,812,449...28,891,360 		JBrowse link
G Slc32a1 solute carrier family 32 (GABA vesicular transporter), member 1 IAGP MouseDO NCBI chr 2:158,449,158...158,457,667
Ensembl chr 2:158,452,687...158,457,668 		JBrowse link
G Slc6a1 solute carrier family 6 (neurotransmitter transporter, GABA), member 1 IEP protein:decreased expression:hippocampus RGD PMID:15248296 RGD:1643206 NCBI chr 6:114,259,735...114,294,491
Ensembl chr 6:114,259,596...114,294,493 		JBrowse link
G Slit2 slit guidance ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20153733 NCBI chr 5:48,138,633...48,465,077
Ensembl chr 5:48,140,480...48,465,075 		JBrowse link
G Tek TEK receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17533168 NCBI chr 4:94,627,322...94,763,213
Ensembl chr 4:94,627,526...94,763,213 		JBrowse link
G Trpv1 transient receptor potential cation channel, subfamily V, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20144892 NCBI chr11:73,124,975...73,152,148
Ensembl chr11:73,125,118...73,152,068 		JBrowse link
G Vdac2 voltage-dependent anion channel 2 ISO protein:increased expression:hippocampus RGD PMID:18186018 RGD:10003053 NCBI chr14:21,881,629...21,895,947
Ensembl chr14:21,875,306...21,895,947 		JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18534255 NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17533168 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
Term paths to the root
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  disease 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        central nervous system disease 12085
          brain disease 11342
            epilepsy 2808
              focal epilepsy 372
                Focal Epilepsy with Speech Disorder and with or without Mental Retardation 2
                Partial Epilepsy with Pericentral Spikes 0
                benign epilepsy with centrotemporal spikes + 50
                complex partial epilepsy 1
                familial focal epilepsy with variable foci + 10
                frontal lobe epilepsy + 108
                partial motor epilepsy 2
                partial sensory epilepsy + 0
                simple partial epilepsy 0
                temporal lobe epilepsy + 89
paths to the root