Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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:epilepsy
go back to main search page
Accession:DOID:1826 term browser browse the term
Definition:A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy). (From Adams et al., Principles of Neurology, 6th ed, p313)
Synonyms:exact_synonym: Epilepsies;   Epileptic Seizure;   Epileptic Seizures;   Seizures;   aura;   auras;   awakening epilepsy;   cryptogenic epilepsies;   cryptogenic epilepsy;   epilepsy syndrome;   epileptic syndrome;   seizure disorder;   seizure disorders;   single seizure;   single seizures
 narrow_synonym: EPILEPSY, MITOCHONDRIAL;   Epilepsy, benign familial juvenile;   INTRACTABLE SEIZURE
 related_synonym: sudden unexpected death in epilepsy
 primary_id: MESH:D004827
 alt_id: MESH:D000080485;   OMIA:001596
 xref: ICD10CM:G40.909;   ICD9CM:345.9;   NCI:C3020;   OMIM:PS613339
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A treatment ISO
IEP
DNA:SNP: :3435C>T (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:8001500, PMID:19570321, PMID:12686700, PMID:28303499 RGD:1358366, RGD:13524859 NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Abcb1b ATP-binding cassette, subfamily B (MDR/TAP), member 1B IDA RGD PMID:15380564 RGD:1358367 NCBI chr 4:22,225,123...22,307,577
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:17945527, PMID:20547083, PMID:28492532, PMID:30311386 NCBI chr 1:201,981,362...202,022,771
Ensembl chr 1:201,981,357...202,021,008
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO ClinVar Annotator: match by term: Epilepsy ClinVar PMID:7728148, PMID:25741868, PMID:30311386, PMID:31268215 NCBI chr 8:58,166,990...58,195,884
Ensembl chr 8:58,166,990...58,195,884
JBrowse link
G Ache acetylcholinesterase ISO RGD PMID:7634486 RGD:5688133 NCBI chr12:22,472,358...22,477,052
Ensembl chr12:22,472,358...22,478,753
JBrowse link
G Acmsd aminocarboxymuconate semialdehyde decarboxylase ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr13:44,424,689...44,468,734
Ensembl chr13:44,424,689...44,468,734
JBrowse link
G Acta1 actin, alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr19:56,674,072...56,677,084
Ensembl chr19:56,674,074...56,677,084
JBrowse link
G Adamtsl2 ADAMTS-like 2 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr 3:5,624,473...5,654,890
Ensembl chr 3:5,624,506...5,654,910
JBrowse link
G Adgrg1 adhesion G protein-coupled receptor G1 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr19:10,423,534...10,460,674
Ensembl chr19:10,423,501...10,460,674
JBrowse link
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:18414213, PMID:24033266 NCBI chr 2:8,926,843...9,504,455
Ensembl chr 2:8,926,850...9,504,134
JBrowse link
G Adra2a adrenoceptor alpha 2A ISO CTD Direct Evidence: therapeutic CTD PMID:17341653 NCBI chr 1:274,766,283...274,769,083
Ensembl chr 1:274,766,283...274,769,081
JBrowse link
G Agbl1 ATP/GTP binding protein-like 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr 1:137,798,862...138,711,126
Ensembl chr 1:137,799,185...138,711,126
JBrowse link
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 3:4,044,741...4,055,384
Ensembl chr 3:4,044,542...4,055,806
JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:20064661 NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15356194, PMID:17121744 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:26026163, PMID:26297558, PMID:30311386 NCBI chr 1:259,641,673...259,674,521
Ensembl chr 1:259,641,676...259,674,425
Ensembl chr 1:259,641,676...259,674,425
JBrowse link
G Aldh5a1 aldehyde dehydrogenase 5 family, member A1 ISS
ISO
ClinVar Annotator: match by term: Seizures MouseDO
ClinVar
PMID:25741868, PMID:28492532 NCBI chr17:42,133,076...42,159,413
Ensembl chr17:42,133,076...42,159,413
JBrowse link
G Aldh7a1 aldehyde dehydrogenase 7 family, member A1 ISO ClinVar Annotator: match by term: Intractable seizure
ClinVar Annotator: match by term: Seizures
ClinVar Annotator: match by term: Epilepsy
ClinVar PMID:16159904, PMID:16491085, PMID:17068770, PMID:17088338, PMID:17721876, PMID:18717709, PMID:19128417, PMID:20370816, PMID:22371912, PMID:22784480, PMID:23022070, PMID:23054014, PMID:23350806, PMID:23430810, PMID:24033266, PMID:25326637, PMID:25741868, PMID:26101365, PMID:26224730, PMID:26232297, PMID:26467025, PMID:28492532, PMID:29056246, PMID:30311386 NCBI chr18:51,619,007...51,651,267
Ensembl chr18:51,619,007...51,651,267
JBrowse link
G Aldob aldolase, fructose-bisphosphate B ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:1856829, PMID:2336380, PMID:8541450, PMID:11757579, PMID:12205126, PMID:12417303, PMID:15880727, PMID:18541450, PMID:19768653, PMID:20033295, PMID:20882353, PMID:23430936, PMID:28492532, PMID:30311386 NCBI chr 5:64,805,772...64,818,813
Ensembl chr 5:64,805,773...64,818,824
JBrowse link
G Alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr10:10,539,930...10,550,178
Ensembl chr10:10,539,930...10,550,138
JBrowse link
G Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Seizures
CTD
ClinVar
PMID:23033978, PMID:23934111, PMID:24781210, PMID:24896178, PMID:25732998, PMID:25741868, PMID:26138355, PMID:26482601, PMID:28492532, PMID:28940310, PMID:29942082, PMID:32238909, PMID:32681751 NCBI chr  X:115,561,329...115,589,792
Ensembl chr  X:115,561,332...115,619,505
JBrowse link
G Alpl alkaline phosphatase, biomineralization associated ISO ClinVar Annotator: match by term: Epilepsy
ClinVar Annotator: match by term: Seizures
ClinVar PMID:11479741, PMID:16583935, PMID:17253930, PMID:21956185, PMID:28492532, PMID:30311386 NCBI chr 5:156,086,496...156,141,513
Ensembl chr 5:156,086,497...156,141,537
JBrowse link
G Amacr alpha-methylacyl-CoA racemase ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 2:60,949,276...60,961,342
Ensembl chr 2:60,949,256...60,961,326
JBrowse link
G Amt aminomethyltransferase ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:15272469, PMID:16450403, PMID:25741868, PMID:27362913, PMID:28492532, PMID:30311386 NCBI chr 8:117,068,388...117,078,633
Ensembl chr 8:117,068,582...117,077,913
JBrowse link
G Ank1 ankyrin 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:28492532, PMID:30311386 NCBI chr16:73,681,422...73,912,605
Ensembl chr16:73,681,422...73,827,488
JBrowse link
G Ankrd11 ankyrin repeat domain 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Seizures
CTD
ClinVar
PMID:25741868, PMID:29942082, PMID:30311386 NCBI chr19:55,703,831...55,862,446
Ensembl chr19:55,703,824...55,737,500
JBrowse link
G Ano5 anoctamin 5 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:9673985, PMID:20096397, PMID:21186264, PMID:21739273, PMID:21820307, PMID:22194990, PMID:22336395, PMID:22402862, PMID:22499103, PMID:22742934, PMID:22980763, PMID:23041008, PMID:23606453, PMID:23607914, PMID:23757202, PMID:24022920, PMID:24232312, PMID:24843231, PMID:25741868, PMID:25891276, PMID:26467025, PMID:27708273, PMID:28492532, PMID:30311386 NCBI chr 1:106,873,580...106,971,769
Ensembl chr 1:106,896,790...106,968,885
JBrowse link
G Ap4s1 adaptor related protein complex 4 subunit sigma 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25552650, PMID:25741868, PMID:28492532, PMID:28708303, PMID:30311386 NCBI chr 6:72,461,977...72,502,717
Ensembl chr 6:72,461,977...72,503,847
JBrowse link
G Apc2 APC regulator of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:28492532 NCBI chr 7:12,258,468...12,280,459
Ensembl chr 7:12,258,468...12,275,609
JBrowse link
G Arhgef15 Rho guanine nucleotide exchange factor 15 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:28492532, PMID:30311386 NCBI chr10:55,532,097...55,545,675
Ensembl chr10:55,532,077...55,544,429
JBrowse link
G Arhgef9 Cdc42 guanine nucleotide exchange factor 9 ISO ClinVar Annotator: match by term: Epilepsy
ClinVar Annotator: match by term: Seizures
ClinVar PMID:30311386 NCBI chr  X:64,249,576...64,428,444
Ensembl chr  X:64,248,278...64,428,592
JBrowse link
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636
JBrowse link
G Arid1b AT-rich interaction domain 1B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Seizures
CTD
ClinVar
PMID:15057123, PMID:22405089, PMID:25741868, PMID:28323383, PMID:29942082, PMID:30311386 NCBI chr 1:45,923,119...46,232,301
Ensembl chr 1:45,923,222...46,234,874
JBrowse link
G Arpin actin-related protein 2/3 complex inhibitor ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 1:141,664,790...141,672,789
Ensembl chr 1:141,662,850...141,672,810
JBrowse link
G Arr3 arrestin 3 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr  X:70,438,590...70,452,140
Ensembl chr  X:70,438,617...70,452,067
JBrowse link
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Epilepsy ClinVar PMID:1670590, PMID:1671769, PMID:1975241, PMID:7815434, PMID:7825603, PMID:8095918, PMID:8104633, PMID:8455580, PMID:8723680, PMID:8962139, PMID:9090526, PMID:9096767, PMID:9600244, PMID:10477432, PMID:11456299, PMID:15952986, PMID:16546179, PMID:16678723, PMID:18786133, PMID:19815439, PMID:20301309, PMID:20646068, PMID:21167507, PMID:25741868, PMID:26462614, PMID:26467025, PMID:27289174, PMID:28492532, PMID:28670130, PMID:30057904, PMID:30293248, PMID:30311386 NCBI chr 7:130,446,644...130,452,632
Ensembl chr 7:130,446,668...130,451,283
JBrowse link
G Ash1l ASH1 like histone lysine methyltransferase ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 2:188,252,592...188,389,251
Ensembl chr 2:188,253,220...188,389,250
JBrowse link
G Asic1 acid sensing ion channel subunit 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 NCBI chr 7:141,324,714...141,354,937
Ensembl chr 7:141,326,321...141,354,937
JBrowse link
G Asxl1 ASXL transcriptional regulator 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 NCBI chr 3:148,832,231...148,902,356
Ensembl chr 3:148,837,814...148,900,452
JBrowse link
G Asxl3 ASXL transcriptional regulator 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29942082 NCBI chr18:13,322,148...13,496,230
Ensembl chr18:13,386,133...13,491,735
JBrowse link
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:9887333, PMID:10330348, PMID:10817650, PMID:10980530, PMID:12810666, PMID:15390180, PMID:16266405, PMID:20153123, PMID:22585167, PMID:25614872, PMID:25741868, PMID:26506520, PMID:27159176, PMID:28492532, PMID:30311386 NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Epilepsy
ClinVar Annotator: match by term: Seizures
ClinVar PMID:25741868, PMID:30311386, PMID:30690204 NCBI chr13:90,651,682...90,676,629
Ensembl chr13:90,651,686...90,676,629
JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO DNA:missense mutations: :p.G358V (c.1073G>T), p.I363N (c.1088T>A) (human)
ClinVar Annotator: match by term: Seizures
ClinVar Annotator: match by term: Epilepsy
ClinVar PMID:22842232, PMID:24100174, PMID:24523486, PMID:24631656, PMID:24842602, PMID:25447930, PMID:25681536, PMID:25741868, PMID:26297560, PMID:26410222, PMID:28492532, PMID:30311386, PMID:30657467, PMID:25656163 RGD:11576281 NCBI chr 1:81,852,423...81,881,565
Ensembl chr 1:81,852,429...81,881,549
JBrowse link
G Atp6v0c ATPase H+ transporting V0 subunit C ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 NCBI chr10:13,537,031...13,543,407
Ensembl chr10:13,537,033...13,542,077
JBrowse link
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:10502777, PMID:12885331, PMID:16283883, PMID:17264425, PMID:17919502, PMID:18034201, PMID:18286826, PMID:18371106, PMID:20517649, PMID:21610751, PMID:22735241, PMID:23518715, PMID:23789284, PMID:26799313, PMID:28492532, PMID:30311386 NCBI chr16:74,865,516...74,944,935
Ensembl chr16:74,865,516...74,945,286
JBrowse link
G Atp8a2 ATPase phospholipid transporting 8A2 ISO ClinVar Annotator: match by term: Seizure Disorders ClinVar NCBI chr15:39,955,689...40,488,737
Ensembl chr15:40,000,322...40,428,800
JBrowse link
G Auts2 activator of transcription and developmental regulator AUTS2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Seizures
CTD
ClinVar
PMID:20502679, PMID:30311386 NCBI chr12:27,155,362...28,252,752
Ensembl chr12:28,212,333...28,251,816
JBrowse link
G Aven apoptosis and caspase activation inhibitor ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 3:103,980,612...104,117,193
Ensembl chr 3:104,042,168...104,117,192
JBrowse link
G Bche butyrylcholinesterase ISO RGD PMID:7634486 RGD:5688133 NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
JBrowse link
G Bckdk branched chain ketoacid dehydrogenase kinase ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:26467025, PMID:28492532 NCBI chr 1:199,351,628...199,356,299
Ensembl chr 1:199,351,628...199,356,881
JBrowse link
G Bcl2l2 Bcl2-like 2 IEP protein:increased expression: hippocampu RGD PMID:11403928 RGD:14394514 NCBI chr15:33,543,774...33,549,165
Ensembl chr15:33,544,312...33,549,164
JBrowse link
G Bcorl1 BCL6 co-repressor-like 1 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr  X:135,187,468...135,233,859
Ensembl chr  X:135,187,468...135,233,839
JBrowse link
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 NCBI chr 9:81,868,158...81,872,201
Ensembl chr 9:81,868,265...81,872,197
JBrowse link
G Bdkrb1 bradykinin receptor B1 IDA RGD PMID:12746865 RGD:704381 NCBI chr 6:129,437,423...129,441,553
Ensembl chr 6:129,438,158...129,440,574
JBrowse link
G Bdkrb2 bradykinin receptor B2 IDA RGD PMID:12746865 RGD:704381 NCBI chr 6:129,399,468...129,429,676
Ensembl chr 6:129,399,468...129,429,676
JBrowse link
G Bdnf brain-derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15282290 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G Becn1 beclin 1 IEP mRNA,protein:increased expression:hippocampus RGD PMID:20838925 RGD:6483076 NCBI chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297
JBrowse link
G Bet1 Bet1 golgi vesicular membrane trafficking protein ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 NCBI chr 4:29,082,368...29,092,638
Ensembl chr 4:29,082,365...29,092,753
JBrowse link
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868, PMID:30054298 NCBI chr17:15,673,649...15,718,035
Ensembl chr17:15,673,650...15,718,035
JBrowse link
G Bmp4 bone morphogenetic protein 4 IEP mRNA:increased expression:dentate gyrus RGD PMID:17286956 RGD:1643597 NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
JBrowse link
G Bmpr2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:12358323, PMID:25741868 NCBI chr 9:66,568,074...66,683,019
Ensembl chr 9:66,568,074...66,676,494
JBrowse link
G Brpf1 bromodomain and PHD finger containing, 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr 4:145,264,445...145,280,943
Ensembl chr 4:145,264,462...145,280,857
JBrowse link
G Bsn bassoon (presynaptic cytomatrix protein) ISS MouseDO NCBI chr 8:116,873,721...116,965,396
Ensembl chr 8:116,873,721...116,965,396
JBrowse link
G Btd biotinidase ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:9232193, PMID:9375914, PMID:9654207, PMID:10400129, PMID:10801053, PMID:11313766, PMID:17185019, PMID:20224900, PMID:22698809, PMID:23644139, PMID:24797656, PMID:25423671, PMID:25741868, PMID:26361991, PMID:26467025, PMID:26810761, PMID:27329734, PMID:27657684, PMID:28492532, PMID:28498829, PMID:30311386 NCBI chr16:7,758,192...7,791,301
Ensembl chr16:7,758,996...7,791,243
JBrowse link
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:28492532, PMID:30311386 NCBI chr 3:110,367,949...110,420,471
Ensembl chr 3:110,367,939...110,420,458
JBrowse link
G C1qa complement C1q A chain ISS MouseDO NCBI chr 5:155,261,254...155,264,101
Ensembl chr 5:155,261,250...155,264,143
JBrowse link
G C2cd3 C2 domain containing 3 centriole elongation regulator ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 1:165,382,279...165,480,088
Ensembl chr 1:165,382,690...165,479,655
JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Seizures
ClinVar Annotator: match by term: Epilepsy
ClinVar PMID:1564484, PMID:3358708, PMID:8898206, PMID:8988170, PMID:9005860, PMID:9302278, PMID:9403487, PMID:9436730, PMID:9559993, PMID:9879686, PMID:11179022, PMID:11564488, PMID:11723274, PMID:12707077, PMID:14718690, PMID:15300451, PMID:15483044, PMID:15710862, PMID:16043807, PMID:16325861, PMID:16595610, PMID:17142831, PMID:17495624, PMID:17575281, PMID:18498393, PMID:18541804, PMID:18940563, PMID:19484318, PMID:19811514, PMID:20097664, PMID:20129625, PMID:20156848, PMID:20204399, PMID:20233618, PMID:20682717, PMID:21183743, PMID:22249839, PMID:23441182, PMID:23771276, PMID:23831250, PMID:23934111, PMID:25735478, PMID:25741868, PMID:25758715, PMID:26814174, PMID:27476654, PMID:28007337, PMID:28492532, PMID:28742085, PMID:29056246, PMID:29100083, PMID:30283815, PMID:30311386 NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
JBrowse link
G Cacna1b calcium voltage-gated channel subunit alpha1 B ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 3:1,740,026...1,924,959
Ensembl chr 3:1,740,024...1,924,827
JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Seizure Disorders ClinVar NCBI chr 4:150,635,808...151,270,790
Ensembl chr 4:150,641,066...150,829,913
JBrowse link
G Cacna1e calcium voltage-gated channel subunit alpha1 E ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr13:71,899,445...72,534,992
Ensembl chr13:71,906,702...72,367,980
JBrowse link
G Cacna1g calcium voltage-gated channel subunit alpha1 G ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr10:82,129,071...82,197,828
Ensembl chr10:82,129,506...82,197,848
JBrowse link
G Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25074461 NCBI chr 4:15,706,974...16,130,848
Ensembl chr 4:15,710,417...16,130,848
JBrowse link
G Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 ISS
ISO
ClinVar Annotator: match by term: Seizures MouseDO
ClinVar
NCBI chr 8:116,154,661...116,285,643
Ensembl chr 8:116,154,736...116,284,985
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO ClinVar Annotator: match by term: Epilepsy ClinVar PMID:30311386 NCBI chr 6:26,657,507...26,680,459
Ensembl chr 6:26,657,780...26,680,284
JBrowse link
G Camk2d calcium/calmodulin-dependent protein kinase II delta IAGP DNA:SNP:intron:g.24024428G>T (rat) RGD PMID:20638246 RGD:6907065 NCBI chr 2:230,900,907...231,132,207
Ensembl chr 2:230,901,126...231,132,039
JBrowse link
G Camta1 calmodulin binding transcription activator 1 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 5:168,138,207...169,017,295
Ensembl chr 5:168,141,372...169,017,295
JBrowse link
G Capn1 calpain 1 treatment IEP RGD PMID:25924429 RGD:13792591 NCBI chr 1:221,346,081...221,370,965
Ensembl chr 1:221,346,066...221,370,322
JBrowse link
G Casd1 CAS1 domain containing 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr 4:29,638,280...29,693,151
Ensembl chr 4:29,639,154...29,691,928
JBrowse link
G Casr calcium-sensing receptor ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:28492532, PMID:30311386 NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
JBrowse link
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr 8:48,481,256...48,564,775
Ensembl chr 8:48,489,036...48,564,722
JBrowse link
G Cbs cystathionine beta synthase ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:7762555, PMID:8353501, PMID:9587029, PMID:10338090, PMID:10408774, PMID:12124992, PMID:12686134, PMID:14722927, PMID:15365998, PMID:16307898, PMID:16479318, PMID:20490928, PMID:20506325, PMID:22069143, PMID:22267502, PMID:22612060, PMID:25741868, PMID:28492532, PMID:29352562, PMID:30311386 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:28492532, PMID:30311386 NCBI chr14:71,895,128...71,979,452
Ensembl chr14:71,895,246...71,973,419
JBrowse link
G Ccnf cyclin F ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:22277662, PMID:24033266, PMID:24848745, PMID:25741868, PMID:26371875, PMID:26467025, PMID:27259978, PMID:27281533, PMID:28301460, PMID:28492532, PMID:29358611 NCBI chr10:13,594,687...13,619,935
Ensembl chr10:13,594,687...13,619,935
JBrowse link
G Cd36 CD36 molecule ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25074461 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Cdh8 cadherin 8 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr19:6,031,654...6,431,502
Ensembl chr19:6,046,665...6,426,216
JBrowse link
G Cdk11b cyclin-dependent kinase 11B ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 NCBI chr 5:173,051,900...173,078,049
Ensembl chr 5:173,052,063...173,078,046
JBrowse link
G Cdk13 cyclin-dependent kinase 13 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr17:49,833,194...49,922,932
Ensembl chr17:49,833,400...49,921,550
JBrowse link
G Cdk20 cyclin-dependent kinase 20 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr17:1,935,900...1,942,867
Ensembl chr17:1,936,163...1,942,865
JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29942082 NCBI chr  X:35,536,396...35,773,204
Ensembl chr  X:35,599,258...35,771,711
JBrowse link
G Cdon cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Epilepsy ClinVar PMID:30311386 NCBI chr 8:36,625,757...36,712,091
Ensembl chr 8:36,625,733...36,710,949
JBrowse link
G Cdyl chromodomain Y-like ISS MouseDO NCBI chr17:29,672,925...29,895,416
Ensembl chr17:29,674,164...29,895,386
JBrowse link
G Cep128 centrosomal protein 128 ISO ClinVar Annotator: match by term: Epilepsy ClinVar PMID:8964822, PMID:12050212, PMID:30311386 NCBI chr 6:114,759,474...115,158,004
Ensembl chr 6:114,759,474...115,157,854
JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Seizure Disorders ClinVar PMID:17564967, PMID:17705300, PMID:19466712, PMID:19764032, PMID:20683928, PMID:21245082, PMID:25741868, PMID:28041643, PMID:28492532, PMID:30311386 NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
JBrowse link
G Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,789
JBrowse link
G Cert1 ceramide transporter 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29942082 NCBI chr 2:27,365,145...27,469,797
Ensembl chr 2:27,365,148...27,469,779
JBrowse link
G Chd2 chromodomain helicase DNA binding protein 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Seizures
CTD
ClinVar
PMID:23708187, PMID:28492532, PMID:29942082, PMID:30311386 NCBI chr 1:134,757,934...134,873,053
Ensembl chr 1:134,757,934...134,871,167
JBrowse link
G Chd3 chromodomain helicase DNA binding protein 3 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr10:55,943,467...55,970,417
Ensembl chr10:55,943,446...55,965,216
JBrowse link
G Chkb choline kinase beta ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 NCBI chr 7:130,404,818...130,408,813
Ensembl chr 7:130,404,832...130,408,187
JBrowse link
G Chl1 cell adhesion molecule L1-like ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 NCBI chr 4:70,269,414...70,331,313
Ensembl chr 4:70,252,366...70,330,803
JBrowse link
G Chrm1 cholinergic receptor, muscarinic 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18333967 NCBI chr 1:224,869,087...224,885,101
Ensembl chr 1:224,882,439...224,884,205
JBrowse link
G Chrm2 cholinergic receptor, muscarinic 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18333967 NCBI chr 4:64,089,028...64,091,090
Ensembl chr 4:64,088,900...64,091,090
JBrowse link
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Epilepsy
ClinVar Annotator: match by term: Seizures
ClinVar PMID:24121633, PMID:27748205, PMID:28492532 NCBI chr 3:60,445,657...60,460,724
Ensembl chr 3:60,445,666...60,460,724
JBrowse link
G Chrna2 cholinergic receptor nicotinic alpha 2 subunit ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:24950454, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr15:42,808,897...42,825,179
Ensembl chr15:42,808,897...42,825,179
JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by term: Seizures
ClinVar Annotator: match by term: Epilepsy
ClinVar PMID:7895015, PMID:10563623, PMID:10643924, PMID:10939581, PMID:11904236, PMID:12887446, PMID:14623738, PMID:15154117, PMID:18414213, PMID:18479385, PMID:19020039, PMID:19058950, PMID:19237585, PMID:19628474, PMID:19628475, PMID:21107856, PMID:21683344, PMID:21753767, PMID:22036597, PMID:22118295, PMID:22873564, PMID:22883468, PMID:24385388, PMID:25741868, PMID:26467025, PMID:26561946, PMID:28492532, PMID:30311386 NCBI chr 3:176,533,182...176,547,965
Ensembl chr 3:176,527,516...176,548,208
JBrowse link
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:11906688, PMID:18414213, PMID:20736995, PMID:21703448, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 2:189,088,570...189,096,785
Ensembl chr 2:189,088,570...189,096,785
JBrowse link
G Cic capicua transcriptional repressor ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr 1:82,135,440...82,163,007
Ensembl chr 1:82,151,669...82,163,005
JBrowse link
G Cilk1 ciliogenesis associated kinase 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr 8:85,413,998...85,473,374
Ensembl chr 8:85,413,537...85,472,694
JBrowse link
G Cinp cyclin-dependent kinase 2-interacting protein ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:26539891 NCBI chr 6:135,290,528...135,304,422
Ensembl chr 6:135,290,530...135,304,422
JBrowse link
G Clcn2 chloride voltage-gated channel 2 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:17762171, PMID:28492532 NCBI chr11:82,862,664...82,876,165
Ensembl chr11:83,883,879...83,897,394
JBrowse link
G Clcnkb chloride voltage-gated channel Kb ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr 5:159,950,384...159,973,576
Ensembl chr 5:159,950,392...159,962,676
JBrowse link
G Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868, PMID:28492532 NCBI chr 1:197,986,384...197,999,726
Ensembl chr 1:197,986,385...197,997,664
JBrowse link
G Cln5 CLN5, intracellular trafficking protein ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:9662406, PMID:18414213, PMID:20157158, PMID:21990111, PMID:22727047, PMID:23374165, PMID:24767253, PMID:25741868, PMID:26467025, PMID:26990548, PMID:27069701, PMID:27533158, PMID:27884173, PMID:28492532 NCBI chr15:93,634,815...93,644,146 JBrowse link
G Cln6 CLN6, transmembrane ER protein ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:11727201, PMID:11791207, PMID:12815591, PMID:14997940, PMID:15265688, PMID:21359198, PMID:21549341, PMID:21990111, PMID:25359263, PMID:25741868, PMID:26075876, PMID:26467025, PMID:27535533, PMID:28492532, PMID:30285654 NCBI chr 8:67,733,215...67,748,170
Ensembl chr 8:67,733,215...67,748,172
JBrowse link
G Cln8 CLN8, transmembrane ER and ERGIC protein ISO ClinVar Annotator: match by term: Seizures
ClinVar Annotator: match by term: Seizure Disorders
ClinVar PMID:21990111, PMID:25741868, PMID:26467025, PMID:26657971, PMID:28454995, PMID:28492532, PMID:29503925 NCBI chr16:79,828,321...79,838,212
Ensembl chr16:79,828,324...79,838,212
JBrowse link
G Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr 1:266,530,421...266,651,292
Ensembl chr 1:266,530,477...266,649,398
JBrowse link
G Cnot1 CCR4-NOT transcription complex, subunit 1 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr19:9,668,186...9,761,605
Ensembl chr19:9,668,186...9,761,605
JBrowse link
G Cnpy3 canopy FGF signaling regulator 3 ISO ClinVar Annotator: match by term: Epilepsy ClinVar PMID:30311386 NCBI chr 9:16,543,715...16,558,441
Ensembl chr 9:16,543,688...16,558,456
JBrowse link
G Cntnap2 contactin associated protein 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epilepsy
CTD
ClinVar
PMID:20502679, PMID:21962519, PMID:25741868 NCBI chr 4:74,700,539...77,025,463 JBrowse link
G Cobll1 cordon-bleu WH2 repeat protein-like 1 ISO ClinVar Annotator: match by term: Epilepsy ClinVar PMID:25741868 NCBI chr 3:51,137,104...51,298,956
Ensembl chr 3:51,137,076...51,297,852
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868, PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153
JBrowse link
G Col9a3 collagen type IX alpha 3 chain ISO ClinVar Annotator: match by term: Epilepsy ClinVar PMID:25741868 NCBI chr 3:176,102,287...176,124,839
Ensembl chr 3:176,102,351...176,124,306
JBrowse link
G Coq6 coenzyme Q6 monooxygenase ISO ClinVar Annotator: match by term: Epilepsy ClinVar PMID:30311386 NCBI chr 6:108,076,393...108,087,782
Ensembl chr 6:108,076,306...108,087,696
JBrowse link
G Cp ceruloplasmin ISO RGD PMID:7914452 RGD:1358523 NCBI chr 2:104,744,249...104,803,034
Ensembl chr 2:104,744,461...104,799,853
JBrowse link
G Cpa6 carboxypeptidase A6 ISO ClinVar Annotator: match by term: Seizure Disorders
ClinVar Annotator: match by term: Seizures
ClinVar PMID:21922598, PMID:23105115, PMID:25741868, PMID:26467025, PMID:26648591, PMID:28492532, PMID:28761347, PMID:29358611, PMID:32581362 NCBI chr 5:8,215,443...8,574,655
Ensembl chr 5:8,459,660...8,574,655
JBrowse link
G Cplane1 ciliogenesis and planar polarity effector 1 ISO ClinVar Annotator: match by term: Epilepsy
ClinVar Annotator: match by term: Seizures
ClinVar PMID:25407461, PMID:25741868, PMID:26092869, PMID:28125082, PMID:28492532, PMID:30311386 NCBI chr 2:57,274,175...57,350,003
NCBI chr 2:57,444,373...57,472,465
Ensembl chr 2:57,276,919...57,348,481
JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039
JBrowse link
G Crh corticotropin releasing hormone ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:22984453, PMID:23593457, PMID:24395520, PMID:26467025, PMID:28492532 NCBI chr 2:104,459,999...104,461,863
Ensembl chr 2:104,459,999...104,461,863
JBrowse link
G Csrnp3 cysteine and serine rich nuclear protein 3 ISO ClinVar Annotator: match by term: Epilepsy ClinVar PMID:25741868 NCBI chr 3:51,883,559...52,120,290
Ensembl chr 3:51,883,559...52,120,290
JBrowse link
G Csrp3 cysteine and glycine rich protein 3 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr 1:104,147,205...104,166,389
Ensembl chr 1:104,147,206...104,166,367
JBrowse link
G Cstb cystatin B ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868, PMID:28492532 NCBI chr20:10,966,357...10,968,399
Ensembl chr20:10,966,331...10,968,432
JBrowse link
G Ctdp1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr18:76,922,913...76,985,095
Ensembl chr18:76,922,934...76,984,203
JBrowse link
G Ctsa cathepsin A ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 3:161,298,750...161,304,627
Ensembl chr 3:161,298,962...161,304,625
JBrowse link
G Ctsd cathepsin D ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:10218883, PMID:16670177, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 1:215,541,570...215,553,446
Ensembl chr 1:215,541,542...215,553,451
JBrowse link
G Ctsf cathepsin F ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:17828264, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 1:220,114,228...220,119,976
Ensembl chr 1:220,114,228...220,119,976
JBrowse link
G Cyfip2 cytoplasmic FMR1 interacting protein 2 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868, PMID:29534297, PMID:30664714 NCBI chr10:31,278,746...31,419,235
Ensembl chr10:31,278,746...31,419,235
JBrowse link
G Cyp2u1 cytochrome P450, family 2, subfamily u, polypeptide 1 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 2:236,414,131...236,431,650
Ensembl chr 2:236,414,135...236,431,683
JBrowse link
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:9802883, PMID:18252231, PMID:19812052, PMID:28492532, PMID:30311386 NCBI chr 2:102,701,903...102,871,257
Ensembl chr 2:102,701,903...102,871,257
JBrowse link
G D2hgdh D-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 NCBI chr 9:100,956,570...100,974,393
Ensembl chr 9:100,956,477...100,974,551
JBrowse link
G Daam1 dishevelled associated activator of morphogenesis 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 NCBI chr 6:94,606,675...94,739,026
Ensembl chr 6:94,636,222...94,739,026
JBrowse link
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:17384640, PMID:19592391, PMID:22843165, PMID:23065766, PMID:23652419, PMID:24005482, PMID:24407472, PMID:25741868, PMID:30311386 NCBI chr13:78,857,638...78,885,464
Ensembl chr13:78,857,638...78,885,464
JBrowse link
G Ddx3x DEAD-box helicase 3, X-linked ISO CTD Direct Evidence: marker/mechanism CTD PMID:29942082 NCBI chr  X:10,400,363...10,414,010
Ensembl chr  X:10,400,366...10,413,995
JBrowse link
G Ddx54 DEAD-box helicase 54 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:31256877 NCBI chr12:41,469,642...41,484,887
Ensembl chr12:41,470,557...41,485,122
JBrowse link
G Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:14510823, PMID:20864493, PMID:23542697, PMID:23869883, PMID:24283814, PMID:25366275, PMID:25599672, PMID:25741868, PMID:26000329, PMID:26467025, PMID:26505888, PMID:27066554, PMID:28102150, PMID:28492532, PMID:28717674, PMID:29356177, PMID:29358611, PMID:30311386 NCBI chr14:83,089,000...83,219,576
Ensembl chr14:83,089,000...83,219,464
JBrowse link
G Dgkz diacylglycerol kinase zeta ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr 3:80,844,002...80,886,487
Ensembl chr 3:80,844,005...80,875,817
JBrowse link
G Dhx16 DEAH-box helicase 16 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:31256877 NCBI chr20:3,368,971...3,386,087
Ensembl chr20:3,367,150...3,386,106
JBrowse link
G Dhx30 DExH-box helicase 30 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:29100085 NCBI chr 8:118,160,315...118,194,674
Ensembl chr 8:118,160,299...118,187,791
JBrowse link
G Dhx34 DExH-box helicase 34 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:31256877 NCBI chr 1:78,069,260...78,112,488
Ensembl chr 1:78,090,044...78,112,488
JBrowse link
G Dhx37 DEAH-box helicase 37 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:31256877 NCBI chr12:36,594,058...36,614,165
Ensembl chr12:36,594,047...36,614,210
JBrowse link
G Dipk1b divergent protein kinase domain 1B ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 3:4,083,797...4,091,550
Ensembl chr 3:4,083,864...4,092,289
JBrowse link
G Dlg3 discs large MAGUK scaffold protein 3 ISO ClinVar Annotator: match by term: Seizure Disorders ClinVar NCBI chr  X:70,596,246...70,648,529
Ensembl chr  X:70,596,576...70,648,532
JBrowse link
G Dmtf1 cyclin D binding myb-like transcription factor 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25074461 NCBI chr 4:21,862,297...21,902,798
Ensembl chr 4:21,862,313...21,902,762
JBrowse link
G Dnah7 dynein, axonemal, heavy chain 7 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 9:60,070,087...60,330,121
NCBI chr 9:59,564,253...59,595,347
Ensembl chr 9:60,070,739...60,330,125
Ensembl chr 9:60,070,739...60,330,125
JBrowse link
G Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 3:177,012,714...177,047,787
Ensembl chr 3:177,013,604...177,043,902
JBrowse link
G Dnajc7 DnaJ heat shock protein family (Hsp40) member C7 ISO ClinVar Annotator: match by term: Epilepsy ClinVar PMID:25741868 NCBI chr10:88,498,271...88,533,730
Ensembl chr10:88,498,238...88,533,829
JBrowse link
G Dnm1 dynamin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29942082 NCBI chr 3:11,338,081...11,382,043
Ensembl chr 3:11,338,083...11,382,043
JBrowse link
G Dock7 dedicator of cytokinesis 7 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:28492532 NCBI chr 5:117,595,194...117,780,844
Ensembl chr 5:117,596,136...117,780,777
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO ClinVar Annotator: match by term: Epilepsy ClinVar PMID:7832988, PMID:8051923, PMID:8698850, PMID:8892022, PMID:9323575, PMID:9439663, PMID:9470816, PMID:9686374, PMID:10071185, PMID:10657402, PMID:10803677, PMID:11156223, PMID:11350878, PMID:11555601, PMID:11895907, PMID:11953843, PMID:11988088, PMID:12209976, PMID:12360106, PMID:12912951, PMID:15017333, PMID:15858133, PMID:16151913, PMID:16361556, PMID:17000685, PMID:17064846, PMID:17121937, PMID:17165084, PMID:17203168, PMID:17335544, PMID:17700593, PMID:18299612, PMID:18443386, PMID:18600527, PMID:19104657, PMID:19473056, PMID:19795123, PMID:19858398, PMID:20385995, PMID:20507294, PMID:20530282, PMID:20803296, PMID:20809970, PMID:20819423, PMID:21410976, PMID:21498394, PMID:21723269, PMID:21919607, PMID:22339448, PMID:22992668, PMID:23328581, PMID:23335937, PMID:23481061, PMID:23585145, PMID:23603345, PMID:23736036, PMID:23930673, PMID:24167597, PMID:24590654, PMID:24647007, PMID:24648345, PMID:24700034, PMID:24817302, PMID:24923815, PMID:25381393, PMID:25410891, PMID:25590979, PMID:25677447, PMID:25741868, PMID:26099996, PMID:26216193, PMID:26265035, PMID:26467025, PMID:26603945, PMID:26794347, PMID:26804652, PMID:26846104, PMID:26967565, PMID:27454530, PMID:27738344, PMID:27864592, PMID:28295243, PMID:28481884, PMID:28929491, PMID:29065426, PMID:29134491, PMID:29152729, PMID:30348537 NCBI chr 2:221,823,692...222,694,627
Ensembl chr 2:221,823,687...222,694,627
JBrowse link
G Dusp29 dual specificity phosphatase 29 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr15:2,766,929...2,806,573
Ensembl chr15:2,766,710...2,806,536
JBrowse link
G Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Seizures
CTD
ClinVar
PMID:18414213, PMID:25326635, PMID:25741868, PMID:25920557, PMID:28053047, PMID:28492532, PMID:29034068, PMID:29942082 NCBI chr11:34,858,339...34,958,733
Ensembl chr11:34,865,532...34,956,536
JBrowse link
G Eef1a2 eukaryotic translation elongation factor 1 alpha 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Seizures
CTD
ClinVar
PMID:26467025, PMID:28492532, PMID:29942082 NCBI chr 3:176,657,104...176,666,282
Ensembl chr 3:176,657,107...176,666,282
JBrowse link
G Eef1b2 eukaryotic translation elongation factor 1 beta 2 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 9:69,953,440...69,956,158
Ensembl chr 9:69,953,440...69,956,160
JBrowse link
G Eef2kmt eukaryotic elongation factor 2 lysine methyltransferase ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr10:10,530,302...10,540,428
Ensembl chr10:10,530,365...10,540,428
JBrowse link
G Egf epidermal growth factor ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr 2:68,820,616...68,895,537 JBrowse link
G Egfl7 EGF-like-domain, multiple 7 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 3:4,034,759...4,044,280
Ensembl chr 3:4,034,921...4,043,936
JBrowse link
G Egr1 early growth response 1 ISO protein:increased expression:hippocampus (mouse) RGD PMID:21559295 RGD:5131860 NCBI chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429
JBrowse link
G Eif2b1 eukaryotic translation initiation factor 2B subunit alpha ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr12:37,444,136...37,452,391
Ensembl chr12:37,444,072...37,465,398
JBrowse link
G Eif2b4 eukaryotic translation initiation factor 2B subunit delta ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr 6:26,546,917...26,552,474
Ensembl chr 6:26,546,924...26,552,430
JBrowse link
G Elapor2 endosome-lysosome associated apoptosis and autophagy regulator family member 2 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25074461 NCBI chr 4:21,563,848...21,757,668
Ensembl chr 4:21,584,369...21,668,570
JBrowse link
G Epm2a EPM2A glucan phosphatase, laforin ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:11735300, PMID:14706656, PMID:16021330, PMID:17010495, PMID:17389303, PMID:18414213, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 1:5,448,958...5,571,512
Ensembl chr 1:5,448,958...5,571,512
JBrowse link
G Erg ETS transcription factor ERG ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr11:35,645,317...35,749,637
Ensembl chr11:35,646,116...35,749,594
JBrowse link
G Ermard ER membrane-associated RNA degradation ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 1:56,982,742...57,008,076
Ensembl chr 1:56,982,821...57,001,665
JBrowse link
G Ern1 endoplasmic reticulum to nucleus signaling 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19558813 NCBI chr10:94,588,555...94,682,072
Ensembl chr10:94,588,555...94,681,914
JBrowse link
G Fam161b FAM161 centrosomal protein B ISO ClinVar Annotator: match by term: Epilepsy ClinVar PMID:30311386 NCBI chr 6:108,060,019...108,076,303
Ensembl chr 6:108,061,063...108,076,186
JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Epilepsy
ClinVar Annotator: match by term: Seizures
ClinVar PMID:15477547, PMID:16177225, PMID:17088268, PMID:17426723, PMID:17438011, PMID:17950645, PMID:17980715, PMID:18414213, PMID:18991199, PMID:19010300, PMID:20691285, PMID:21038416, PMID:21228398, PMID:23783014, PMID:24033266, PMID:25462018, PMID:25741868, PMID:26104464, PMID:26467025, PMID:28492532 NCBI chr 1:141,116,565...141,172,997
Ensembl chr 1:141,120,166...141,172,483
JBrowse link
G Fastkd2 FAST kinase domains 2 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr 9:70,448,386...70,471,420
Ensembl chr 9:70,450,444...70,470,550
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868, PMID:30311386 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Fbxl3 F-box and leucine-rich repeat protein 3 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:9662406, PMID:18414213, PMID:20157158, PMID:21990111, PMID:23374165, PMID:24767253, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr15:93,647,307...93,667,395
Ensembl chr15:93,647,310...93,667,395
JBrowse link
G Fgf23 fibroblast growth factor 23 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr 4:159,622,404...159,630,082
Ensembl chr 4:159,622,404...159,630,082
JBrowse link
G Flna filamin A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Seizures
protein:increased expression:cerebral cortex, astrocyte, perinuclear region of cytoplasm (human)
CTD
ClinVar
PMID:11914408, PMID:25741868, PMID:30311386, PMID:18596546 RGD:11565133 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
JBrowse link
G Flt4 Fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Epilepsy ClinVar PMID:30311386 NCBI chr10:35,078,782...35,120,296
Ensembl chr10:35,078,726...35,121,599
JBrowse link
G Folr1 folate receptor alpha ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Seizures
CTD
ClinVar
PMID:19732866, PMID:21937992, PMID:25741868, PMID:27535533, PMID:27884173, PMID:28492532, PMID:29661558 NCBI chr 1:166,934,457...166,945,864
Ensembl chr 1:166,934,460...166,943,592
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:15973680 NCBI chr 6:109,300,433...109,303,299
Ensembl chr 6:109,300,433...109,303,299
JBrowse link
G Fosb FosB proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:16391389 NCBI chr 1:80,214,691...80,221,417
Ensembl chr 1:80,214,494...80,221,710
JBrowse link
G Foxg1 forkhead box G1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29942082 NCBI chr 6:69,971,227...69,974,037
Ensembl chr 6:69,971,227...69,974,037
JBrowse link
G Foxp1 forkhead box P1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 NCBI chr 4:131,362,178...131,963,466
Ensembl chr 4:131,366,744...131,694,755
JBrowse link
G Foxred1 FAD-dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr 8:36,401,317...36,410,589
Ensembl chr 8:36,403,493...36,410,612
JBrowse link
G Frmpd4 FERM and PDZ domain containing 4 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr  X:27,231,648...28,206,890
Ensembl chr  X:28,072,826...28,204,260
JBrowse link
G Frrs1l ferric-chelate reductase 1-like ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:21147040, PMID:25741868, PMID:27236917, PMID:27239025, PMID:28492532, PMID:32860008 NCBI chr 5:73,997,958...74,029,381
Ensembl chr 5:74,000,227...74,029,238
JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Intractable seizure
ClinVar Annotator: match by term: Seizures
ClinVar Annotator: match by term: Epilepsy
ClinVar PMID:9126483, PMID:11992121, PMID:16530959, PMID:16569738, PMID:16718694, PMID:18414213, PMID:20551311, PMID:21714819, PMID:22190369, PMID:23934111, PMID:24623842, PMID:24811917, PMID:25741868, PMID:26467025, PMID:26918889, PMID:27353043, PMID:27521439, PMID:28251550, PMID:28492532, PMID:29655203, PMID:30311386 NCBI chr10:27,310,718...27,371,802
Ensembl chr10:27,310,725...27,366,665
JBrowse link
G Gabrb2 gamma-aminobutyric acid type A receptor subunit beta 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Seizures
CTD
ClinVar
PMID:29942082, PMID:30311386 NCBI chr10:27,973,694...28,193,072
Ensembl chr10:27,973,681...28,187,565
JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Seizures
ClinVar Annotator: match by term: Epilepsy
CTD
ClinVar
PMID:15878204, PMID:18514161, PMID:19935738, PMID:20550555, PMID:25726841, PMID:25741868, PMID:26467025, PMID:26845707, PMID:26950270, PMID:28492532, PMID:29942082 NCBI chr 1:113,034,251...113,265,364
Ensembl chr 1:112,976,770...113,265,364
JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:23708187, PMID:25726841, PMID:25730860, PMID:25741868, PMID:26467025, PMID:27864268, PMID:28492532, PMID:29100083, PMID:29358611 NCBI chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900
JBrowse link
G Gad2 glutamate decarboxylase 2 ISS MouseDO NCBI chr17:89,171,576...89,234,770
Ensembl chr17:89,171,250...89,238,040
JBrowse link
G Gal galanin and GMAP prepropeptide ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr 1:218,653,059...218,657,922
Ensembl chr 1:218,652,917...218,657,925
JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Epilepsy ClinVar PMID:25741868 NCBI chr 3:52,174,469...52,212,395
Ensembl chr 3:52,175,547...52,212,412
JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 7:12,314,848...12,317,998
Ensembl chr 7:12,314,848...12,317,998
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase IEP RGD PMID:30143487 RGD:13792618 NCBI chr 4:157,676,336...157,680,322
Ensembl chr 4:157,676,595...157,679,962
JBrowse link
G Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr15:46,386,703...46,458,679
Ensembl chr15:46,386,712...46,432,965
JBrowse link
G Gatm glycine amidinotransferase ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 3:114,711,570...114,728,155
Ensembl chr 3:114,711,562...114,728,410
JBrowse link
G Gdf1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,767
JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO RGD PMID:19162016 RGD:6218965 NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238
JBrowse link
G Gdpd2 glycerophosphodiester phosphodiesterase domain containing 2 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr  X:70,563,381...70,572,295
Ensembl chr  X:70,563,570...70,572,295
JBrowse link
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21177194 NCBI chr10:90,990,762...90,999,435
Ensembl chr10:90,990,762...90,999,506
JBrowse link
G Gfm1 G elongation factor, mitochondrial 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr 2:164,601,575...164,646,478
Ensembl chr 2:164,601,586...164,646,439
JBrowse link
G Ghr growth hormone receptor ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:10984309, PMID:25741868, PMID:30311386 NCBI chr 2:53,149,225...53,413,954
Ensembl chr 2:53,150,370...53,413,638
JBrowse link
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
G Gja8 gap junction protein, alpha 8 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr 2:199,050,854...199,052,470
Ensembl chr 2:199,050,854...199,052,470
JBrowse link
G Gla galactosidase, alpha ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:2393552, PMID:16773563, PMID:18830871, PMID:20110537, PMID:20122163, PMID:20716442, PMID:21890869, PMID:21946453, PMID:22205110, PMID:22437327, PMID:22551898, PMID:23306324, PMID:23922385, PMID:23935525, PMID:24033266, PMID:24365053, PMID:24395922, PMID:24582695, PMID:24661928, PMID:24829596, PMID:25179549, PMID:25468652, PMID:25741868, PMID:26305465, PMID:26866599, PMID:28299312, PMID:28409012, PMID:28492532, PMID:28596458, PMID:28646478, PMID:28941980, PMID:29330335, PMID:29631605, PMID:30311386, PMID:30569317, PMID:30773290, PMID:31291414, PMID:31449323, PMID:31566927, PMID:31654629, PMID:31907047, PMID:32418857, PMID:32531501 NCBI chr  X:105,405,915...105,417,331
Ensembl chr  X:105,406,792...105,417,323
JBrowse link
G Gldc glycine decarboxylase ISO ClinVar Annotator: match by term: Epilepsy ClinVar PMID:30311386 NCBI chr 1:248,295,140...248,377,122
Ensembl chr 1:248,297,331...248,377,093
JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Epilepsy
ClinVar Annotator: match by term: Seizures
ClinVar PMID:25741868, PMID:30311386 NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
JBrowse link
G Glra1 glycine receptor, alpha 1 ISO ClinVar Annotator: match by term: Epilepsy ClinVar PMID:30311386 NCBI chr10:40,851,955...40,954,364
Ensembl chr10:40,855,559...40,953,651
JBrowse link
G Gnai1 G protein subunit alpha i1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25074461 NCBI chr 4:13,405,136...13,486,866
Ensembl chr 4:13,405,136...13,485,883
JBrowse link
G Gnao1 G protein subunit alpha o1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29942082 NCBI chr19:11,513,201...11,669,578
Ensembl chr19:11,513,201...11,669,578
JBrowse link
G Gnat3 G protein subunit alpha transducin 3 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25074461 NCBI chr 4:13,827,764...13,878,126
Ensembl chr 4:13,827,756...13,878,126
JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Epilepsy
ClinVar Annotator: match by term: Seizures
ClinVar PMID:9596582, PMID:10819326, PMID:24033266, PMID:25485910, PMID:25741868, PMID:25741901, PMID:27108799, PMID:27513193, PMID:27668284, PMID:28087732, PMID:30194818, PMID:32963807 NCBI chr 5:172,914,025...172,981,403
Ensembl chr 5:172,934,990...172,979,986
JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 5:59,511,738...59,553,421
Ensembl chr 5:59,512,872...59,553,416
JBrowse link
G Gosr2 golgi SNAP receptor complex member 2 ISO ClinVar Annotator: match by term: Seizures
ClinVar Annotator: match by term: Seizure Disorders
ClinVar PMID:19057520, PMID:21549339, PMID:23449775, PMID:25326637, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr10:91,735,772...91,756,123
Ensembl chr10:91,736,780...91,756,081
JBrowse link
G Gphn gephyrin ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 6:101,327,874...101,859,169
Ensembl chr 6:101,532,518...101,859,164
JBrowse link
G Gpld1 glycosylphosphatidylinositol specific phospholipase D1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868, PMID:28492532 NCBI chr17:42,085,027...42,131,344
Ensembl chr17:42,085,028...42,127,678
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19499324 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
JBrowse link
G Gria1 glutamate ionotropic receptor AMPA type subunit 1 IEP protein:increased expression:hippocampus (rat) RGD PMID:19154779 RGD:2326034 NCBI chr10:42,441,723...42,760,200
Ensembl chr10:42,614,713...42,760,200
JBrowse link
G Grik2 glutamate ionotropic receptor kainate type subunit 2 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr20:53,791,428...54,517,691
Ensembl chr20:53,789,760...54,517,709
JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Seizures
CTD
ClinVar
PMID:20890276, PMID:23933818, PMID:28492532, PMID:29358611, PMID:30311386, PMID:30544257 NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990
JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B IEP
ISO
protein:increased expression:hippocampus (rat)
ClinVar Annotator: match by term: Seizures
ClinVar Annotator: match by term: Epilepsy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16407536, PMID:25741868, PMID:28377535, PMID:28492532, PMID:29942082, PMID:30311386, PMID:19154779 RGD:2326034 NCBI chr 4:169,541,620...170,000,216
Ensembl chr 4:169,560,387...169,999,873
JBrowse link
G Grm1 glutamate metabotropic receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19853022 NCBI chr 1:4,753,141...5,165,859
Ensembl chr 1:4,753,144...5,165,859
JBrowse link
G Grm3 glutamate metabotropic receptor 3 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25074461 NCBI chr 4:21,316,761...21,567,561
Ensembl chr 4:21,317,695...21,560,490
JBrowse link
G Grm7 glutamate metabotropic receptor 7 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 4:142,452,616...143,368,460
Ensembl chr 4:142,780,987...143,367,578
JBrowse link
G Grm8 glutamate metabotropic receptor 8 IDA RGD PMID:17940877 RGD:6484665 NCBI chr 4:54,474,344...55,409,526
Ensembl chr 4:54,474,136...55,407,922
JBrowse link
G Grn granulin precursor ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:16950801, PMID:17202431, PMID:17228326, PMID:17345602, PMID:17371905, PMID:17436289, PMID:17984093, PMID:18183624, PMID:18184915, PMID:18223198, PMID:18234697, PMID:18314228, PMID:18464284, PMID:18543312, PMID:18565828, PMID:18752597, PMID:18838661, PMID:19012866, PMID:19158106, PMID:19632744, PMID:19649643, PMID:20020531, PMID:20028451, PMID:20142524, PMID:21800185, PMID:22312439, PMID:22995991, PMID:23684369, PMID:23724906, PMID:23742080, PMID:23759146, PMID:23990795, PMID:24503614, PMID:25104557, PMID:25333068, PMID:25741868, PMID:26159191, PMID:26467025, PMID:26652843, PMID:26811050, PMID:27632209, PMID:27790088, PMID:27884173, PMID:27997711, PMID:28492532, PMID:30279455 NCBI chr10:90,377,103...90,383,207
Ensembl chr10:90,376,933...90,383,205
JBrowse link
G H1f4 H1.4 linker histone, cluster member ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr17:43,734,461...43,735,120
Ensembl chr17:43,734,461...43,735,120
JBrowse link
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12890777 NCBI chr 2:50,099,576...50,499,799
Ensembl chr 2:50,099,576...50,499,799
JBrowse link
G Hcn2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 ISO ClinVar Annotator: match by term: Epilepsy ClinVar PMID:30311386 NCBI chr 7:12,851,730...12,870,087
Ensembl chr 7:12,851,739...12,874,215
JBrowse link
G Hes1 hes family bHLH transcription factor 1 treatment IMP RGD PMID:23928226 RGD:9685365 NCBI chr11:74,312,837...74,315,249
Ensembl chr11:74,312,806...74,315,248
JBrowse link
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:1827944, PMID:1837283, PMID:2934978, PMID:6236221, PMID:9694901, PMID:14577003, PMID:15714079, PMID:16088929, PMID:18490185, PMID:19091716, PMID:22441121, PMID:25860343, PMID:28492532, PMID:30311386 NCBI chr 8:64,325,435...64,350,775
Ensembl chr 8:64,325,435...64,350,773
JBrowse link
G Hgf hepatocyte growth factor ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25074461 NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
JBrowse link
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:28492532 NCBI chr16:70,876,557...70,909,443 JBrowse link
G Hivep1 HIVEP zinc finger 1 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr17:22,278,103...22,403,362
Ensembl chr17:22,278,798...22,311,392
JBrowse link
G Hk1 hexokinase 1 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr20:31,911,460...31,979,780
Ensembl chr20:31,912,262...31,956,649
JBrowse link
G Hlcs holocarboxylase synthetase ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr11:34,357,372...34,537,798
Ensembl chr11:34,352,287...34,526,931
JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr 8:48,667,278...48,674,673
Ensembl chr 8:48,667,275...48,674,748
JBrowse link
G Hnrnpu heterogeneous nuclear ribonucleoprotein U ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Seizures
CTD
ClinVar
PMID:25326635, PMID:25741868, PMID:28815871, PMID:29942082 NCBI chr13:96,222,093...96,238,845
Ensembl chr13:96,225,912...96,238,572
JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:9482850, PMID:9915948, PMID:10419023, PMID:10497229, PMID:16385454, PMID:25741868, PMID:25967389, PMID:26970254, PMID:27290639, PMID:28492532, PMID:30311386 NCBI chr18:44,810,462...44,897,677
Ensembl chr18:44,810,388...44,897,640
JBrowse link
G Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr 5:155,812,096...155,913,751 JBrowse link
G Htr7 5-hydroxytryptamine receptor 7 ISO RGD PMID:17485199 RGD:6482190 NCBI chr 1:254,547,964...254,671,811
Ensembl chr 1:254,547,620...254,671,778
JBrowse link
G Htra1 HtrA serine peptidase 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:19387015, PMID:25741868, PMID:26063658, PMID:32101834, PMID:32581362 NCBI chr 1:201,499,067...201,548,508
Ensembl chr 1:201,499,028...201,548,513
JBrowse link
G Ice2 interactor of little elongation complex ELL subunit 2 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 8:75,625,147...75,666,959
Ensembl chr 8:75,625,174...75,666,866
JBrowse link
G Ier3ip1 immediate early response 3 interacting protein 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:29358611 NCBI chr 4:132,140,802...132,152,059
Ensembl chr 4:132,140,802...132,151,740
JBrowse link
G Ifih1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:28492532, PMID:30311386 NCBI chr 3:48,557,696...48,604,097
Ensembl chr 3:48,557,696...48,604,097
JBrowse link
G Il1b interleukin 1 beta IEP protein:increased expression:brain,plasma RGD PMID:28303499 RGD:13524859 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il6 interleukin 6 IEP protein:increased expression:brain,plasma RGD PMID:28303499 RGD:13524859 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Ilk integrin-linked kinase ISO CTD Direct Evidence: therapeutic CTD PMID:20064661 NCBI chr 1:170,578,941...170,585,192
Ensembl chr 1:170,578,889...170,585,189
JBrowse link
G Ino80 INO80 complex ATPase subunit ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25558065 NCBI chr 3:111,186,371...111,266,542
Ensembl chr 3:111,187,711...111,266,542
JBrowse link
G Iqsec2 IQ motif and Sec7 domain ArfGEF 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29942082 NCBI chr  X:22,212,137...22,293,810
Ensembl chr  X:22,212,132...22,294,402
JBrowse link
G Irf2bpl interferon regulatory factor 2 binding protein-like ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 6:110,901,940...110,904,288
Ensembl chr 6:110,901,940...110,904,288
JBrowse link
G Itpa inosine triphosphatase ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:28492532 NCBI chr 3:123,209,611...123,221,266
Ensembl chr 3:123,209,608...123,221,269
JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 ISO RGD PMID:10426189 RGD:6482816 NCBI chr 4:140,247,297...140,580,749
Ensembl chr 4:140,247,313...140,580,748
JBrowse link
G Kansl1 KAT8 regulatory NSL complex subunit 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr10:92,388,045...92,517,449
Ensembl chr10:92,389,530...92,476,109
JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868, PMID:30311386 NCBI chr15:2,811,933...2,966,833
Ensembl chr15:2,813,537...2,966,576
JBrowse link
G Kcna1 potassium voltage-gated channel subfamily A member 1 ISS MouseDO NCBI chr 4:159,190,781...159,192,526
Ensembl chr 4:159,190,804...159,192,526
JBrowse link
G Kcna2 potassium voltage-gated channel subfamily A member 2 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868, PMID:26467025, PMID:28019661, PMID:28492532 NCBI chr 2:209,838,607...209,852,471
Ensembl chr 2:209,838,869...209,852,471
JBrowse link
G Kcnab2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11580756 NCBI chr 5:169,570,327...169,658,875
Ensembl chr 5:169,572,517...169,658,875
JBrowse link
G Kcnb1 potassium voltage-gated channel subfamily B member 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:163,850,785...163,935,610
Ensembl chr 3:163,850,785...163,935,617
JBrowse link
G Kcnc1 potassium voltage-gated channel subfamily C member 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr 1:102,414,352...102,456,718
Ensembl chr 1:102,414,625...102,456,411
JBrowse link
G Kcnc2 potassium voltage-gated channel subfamily C member 2 susceptibility ISO RGD PMID:11124984 RGD:9831375 NCBI chr 7:54,978,453...55,159,362
Ensembl chr 7:54,980,120...55,159,351
JBrowse link
G Kcnd3 potassium voltage-gated channel subfamily D member 3 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 NCBI chr 2:207,923,775...208,140,727
Ensembl chr 2:207,923,775...208,140,727
JBrowse link
G Kcnh1 potassium voltage-gated channel subfamily H member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Seizures
CTD
ClinVar
PMID:9738473, PMID:18203178, PMID:23424202, PMID:25420144, PMID:25711872, PMID:25741868, PMID:25915598, PMID:26264464, PMID:26818738, PMID:29942082, PMID:32581362, PMID:32860008 NCBI chr13:110,920,712...111,232,291
Ensembl chr13:110,920,737...111,232,269
JBrowse link
G Kcnh5 potassium voltage-gated channel subfamily H member 5 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:28492532 NCBI chr 6:97,872,831...98,157,087
Ensembl chr 6:97,872,831...98,157,087
JBrowse link
G Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 8:33,490,280...33,519,127
Ensembl chr 8:33,514,042...33,518,165
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:21458570, PMID:23965030, PMID:24378235, PMID:25741868, PMID:26467025, PMID:27182706, PMID:27535533, PMID:27677466, PMID:27884173, PMID:28492532, PMID:29615871, PMID:30304693 NCBI chr13:90,722,945...90,753,338
Ensembl chr13:90,723,092...90,752,581
JBrowse link
G Kcnj15 potassium inwardly-rectifying channel, subfamily J, member 15 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr11:35,545,185...35,588,517
Ensembl chr11:35,568,182...35,585,390
JBrowse link
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:23644778, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr10:99,429,337...99,442,520
Ensembl chr10:99,437,436...99,439,114
JBrowse link
G Kcnj6 potassium inwardly-rectifying channel, subfamily J, member 6 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr11:35,011,007...35,262,362
Ensembl chr11:35,024,196...35,099,383
JBrowse link
G Kcnk2 potassium two pore domain channel subfamily K member 2 susceptibility ISO RGD PMID:15175651 RGD:9831121 NCBI chr13:107,690,111...107,886,476
Ensembl chr13:107,690,087...107,886,476
JBrowse link
G Kcnk4 potassium two pore domain channel subfamily K member 4 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868, PMID:30290154 NCBI chr 1:222,182,997...222,192,139
Ensembl chr 1:222,183,276...222,189,604
JBrowse link
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr15:344,204...1,048,849
Ensembl chr15:344,360...1,047,956
JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Seizures
ClinVar Annotator: match by term: Epilepsy
CTD
ClinVar
PMID:3360469, PMID:6965523, PMID:8327138, PMID:9425895, PMID:9430594, PMID:9872318, PMID:10323247, PMID:10781098, PMID:11572947, PMID:11690625, PMID:12742592, PMID:12754513, PMID:14534157, PMID:14985406, PMID:15608631, PMID:16464983, PMID:16829045, PMID:17475800, PMID:17675531, PMID:17872363, PMID:18238816, PMID:18414213, PMID:18483067, PMID:19380078, PMID:19453707, PMID:20119593, PMID:20196795, PMID:21685056, PMID:22169383, PMID:22275249, PMID:22926866, PMID:23360469, PMID:23621294, PMID:23692823, PMID:23708187, PMID:23849776, PMID:24107868, PMID:24318194, PMID:24375629, PMID:24586341, PMID:25326637, PMID:25533962, PMID:25740509, PMID:25741868, PMID:25959266, PMID:25982755, PMID:26007637, PMID:26138355, PMID:26467025, PMID:26704558, PMID:26795593, PMID:26993267, PMID:27334371, PMID:27535030, PMID:27602407, PMID:27779742, PMID:27861786, PMID:28399683, PMID:28492532, PMID:28602030, PMID:28867141, PMID:29056246, PMID:29129156, PMID:29720203, PMID:29942082, PMID:30185235, PMID:30311386, PMID:31199083, PMID:32860008 NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
JBrowse link
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:16235065, PMID:17765802, PMID:18625963, PMID:19344764, PMID:21703448, PMID:23596459, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29358611 NCBI chr 7:106,714,479...107,009,639
Ensembl chr 7:106,717,229...107,009,330
JBrowse link
G Kcnq5 potassium voltage-gated channel subfamily Q member 5 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 9:27,565,869...28,141,114
Ensembl chr 9:27,562,959...27,761,733
JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Epilepsy
ClinVar Annotator: match by term: Seizures
ClinVar PMID:18414213, PMID:25339316, PMID:25741868, PMID:26105150, PMID:26140313, PMID:26467025, PMID:26740507, PMID:26786403, PMID:27029629, PMID:28488083, PMID:28492532, PMID:28554332, PMID:29358611, PMID:29422393, PMID:30311386 NCBI chr 3:3,310,641...3,366,558
Ensembl chr 3:3,310,954...3,365,340
JBrowse link
G Kcnt2 potassium sodium-activated channel subfamily T member 2 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 NCBI chr13:57,130,855...57,520,263
Ensembl chr13:57,131,395...57,521,836
JBrowse link
G Kctd7 potassium channel tetramerization domain containing 7 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr12:30,024,080...30,033,357
Ensembl chr12:30,024,081...30,033,357
JBrowse link
G Kdm5c lysine demethylase 5C ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr  X:22,302,664...22,349,298
Ensembl chr  X:22,302,485...22,348,627
JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 9:100,171,851...100,253,626
Ensembl chr 9:100,171,772...100,253,609
JBrowse link
G Kif2a kinesin family member 2A ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 2:38,145,507...38,208,765
Ensembl chr 2:38,147,601...38,208,719
JBrowse link
G Kif4a kinesin family member 4A ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr  X:70,461,700...70,561,084
Ensembl chr  X:70,461,718...70,561,189
JBrowse link
G Kif5a kinesin family member 5A ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:28492532, PMID:30311386, PMID:23217743 RGD:12859092 NCBI chr 7:70,515,832...70,552,897
Ensembl chr 7:70,513,343...70,556,827
JBrowse link
G Kirrel2 kirre like nephrin family adhesion molecule 2 ISO ClinVar Annotator: match by term: Epilepsy ClinVar PMID:25741868 NCBI chr 1:88,909,829...88,921,154
Ensembl chr 1:88,910,415...88,920,291
JBrowse link
G Klln killin, p53-regulated DNA replication inhibitor ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25669429, PMID:25741868, PMID:27535533 NCBI chr 1:251,417,849...251,420,794 JBrowse link
G Kmt2c lysine methyltransferase 2C ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 4:82,506...109,986
NCBI chr 4:6,083,650...6,294,413
Ensembl chr 4:6,083,736...6,292,516
JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868, PMID:30311386 NCBI chr 7:140,507,137...140,542,479
Ensembl chr 7:140,489,492...140,546,908
JBrowse link
G Kmt2e lysine methyltransferase 2E ISO ClinVar Annotator: match by term: Seizure Disorders ClinVar PMID:25741868, PMID:31079897 NCBI chr 4:8,187,751...8,255,578
Ensembl chr 4:8,187,751...8,255,514
JBrowse link
G Krit1 KRIT1, ankyrin repeat containing ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr 4:27,438,609...27,473,150
Ensembl chr 4:27,438,609...27,473,150
JBrowse link
G L2hgdh L-2-hydroxyglutarate dehydrogenase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epilepsy
CTD
ClinVar
PMID:15385440, PMID:30311386 NCBI chr 6:92,016,560...92,057,643
Ensembl chr 6:92,016,622...92,057,816
JBrowse link
G Lamc3 laminin subunit gamma 3 ISO ClinVar Annotator: match by term: Epilepsy ClinVar NCBI chr 3:9,265,407...9,327,107
Ensembl chr 3:9,267,122...9,326,993
JBrowse link
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr16:10,878,348...10,943,016
Ensembl chr16:10,878,334...10,941,501
JBrowse link
G Lgi1 leucine-rich, glioma inactivated 1 IMP
ISO
DNA:missense mutation:cds:p.L385R (c.1154T>G)(rat)
ClinVar Annotator: match by term: Seizures
ClinVar PMID:21504429, PMID:25741868, PMID:26773249, PMID:28492532, PMID:30311386, PMID:22589250 RGD:12792971 NCBI chr 1:256,955,944...256,996,835
Ensembl chr 1:256,955,652...256,999,253
JBrowse link
G Lgi1m1Kyo leucine-rich, glioma inactivated 1; ENU induced mutant1, Kyo IMP DNA:missense mutation:cds:p.L385R (c.1154T>G) RGD PMID:22589250 RGD:12792971
G Lrpprc leucine-rich pentatricopeptide repeat containing ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:28492532 NCBI chr 6:7,984,043...8,066,874
Ensembl chr 6:7,984,019...8,066,868
JBrowse link
G Lyst lysosomal trafficking regulator ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:28492532, PMID:30311386 NCBI chr17:90,323,055...90,522,091 JBrowse link
G Magel2 MAGE family member L2 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868, PMID:30311386 NCBI chr 1:123,015,404...123,019,945
Ensembl chr 1:123,015,746...123,019,522
JBrowse link
G Man1b1 mannosidase, alpha, class 1B, member 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:28492532 NCBI chr 3:2,547,259...2,569,051
Ensembl chr 3:2,547,986...2,569,049
JBrowse link
G Map1b microtubule-associated protein 1B ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 2:29,675,391...29,768,750
Ensembl chr 2:29,675,391...29,768,750
JBrowse link
G Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr10:14,259,394...14,299,276
Ensembl chr10:14,260,787...14,299,167
JBrowse link
G Mapt microtubule-associated protein tau treatment IDA RGD PMID:28595035 RGD:13800901 NCBI chr10:92,289,002...92,386,517
Ensembl chr10:92,288,910...92,386,517
JBrowse link
G MAST1 microtubule associated serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr19:26,026,045...26,053,762
Ensembl chr19:26,026,043...26,053,762
JBrowse link
G Mbd5 methyl-CpG binding domain protein 5 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:33,364,812...33,504,144
Ensembl chr 3:33,440,191...33,504,238
JBrowse link
G Mcrip2 MAPK regulated co-repressor interacting protein 2 ISO ClinVar Annotator: match by term: Epilepsy ClinVar PMID:28492532 NCBI chr10:15,230,801...15,235,740
Ensembl chr10:15,230,801...15,235,740
JBrowse link
G Mdga2 MAM domain containing glycosylphosphatidylinositol anchor 2 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 6:88,442,620...89,292,454
Ensembl chr 6:88,447,749...88,917,070
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Seizures
ClinVar Annotator: match by term: Epilepsy
CTD
ClinVar
PMID:8177735, PMID:10508514, PMID:10767337, PMID:10814718, PMID:10854091, PMID:11035019, PMID:11055898, PMID:11058114, PMID:11227330, PMID:11245712, PMID:11524741, PMID:11738883, PMID:12075485, PMID:12111643, PMID:12180070, PMID:12615169, PMID:12966523, PMID:15057977, PMID:15558314, PMID:16169931, PMID:16473305, PMID:16690727, PMID:16832102, PMID:16844334, PMID:17089071, PMID:17142618, PMID:17236109, PMID:17267601, PMID:17351020, PMID:17387578, PMID:18174559, PMID:18337588, PMID:19652677, PMID:19914908, PMID:20151026, PMID:21154482, PMID:21160487, PMID:21954873, PMID:21982064, PMID:22277191, PMID:23421866, PMID:23696494, PMID:23921973, PMID:24399845, PMID:24458799, PMID:25741868, PMID:27354166, PMID:27799067, PMID:28492532, PMID:29655203, PMID:29942082, PMID:30311386 NCBI chr  X:156,650,389...156,713,813
Ensembl chr  X:156,655,960...156,705,233
JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr  X:71,174,653...71,197,812
Ensembl chr  X:71,174,699...71,197,812
JBrowse link
G Med13 mediator complex subunit 13 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr10:73,702,327...73,787,084
Ensembl chr10:73,702,327...73,787,083
JBrowse link
G Mef2c myocyte enhancer factor 2C ISO ClinVar Annotator: match by term: Seizure Disorders
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:20412115, PMID:29942082 NCBI chr 2:11,658,534...11,822,788
Ensembl chr 2:11,658,568...11,822,787
JBrowse link
G Mefv MEFV innate immuity regulator, pyrin ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:9288094, PMID:9288758, PMID:9781020, PMID:10364520, PMID:10787449, PMID:11464248, PMID:15643295, PMID:15942916, PMID:16785446, PMID:16889173, PMID:18353061, PMID:19790133, PMID:20008920, PMID:21290976, PMID:22037353, PMID:23334425, PMID:23907647, PMID:24318677, PMID:25741868, PMID:27030597, PMID:28492532, PMID:30171907, PMID:30311386 NCBI chr10:12,045,813...12,056,229
Ensembl chr10:12,046,541...12,056,311
JBrowse link
G Mettl26 methyltransferase like 26 ISO ClinVar Annotator: match by term: Epilepsy ClinVar PMID:28492532 NCBI chr10:15,239,753...15,255,054
Ensembl chr10:15,241,590...15,252,413
JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:17564970, PMID:18414213, PMID:19177532, PMID:19201763, PMID:19277732, PMID:21990111, PMID:22668694, PMID:25227500, PMID:25333361, PMID:25439737, PMID:25741868, PMID:26467025, PMID:26681805, PMID:28041643, PMID:28492532, PMID:28586915, PMID:29924869, PMID:30311386 NCBI chr 2:127,706,618...127,784,129
Ensembl chr 2:127,699,761...127,781,003
JBrowse link
G Mif macrophage migration inhibitory factor IDA RGD PMID:20626060 RGD:4890972 NCBI chr20:13,715,219...13,732,980
Ensembl chr20:13,732,198...13,732,859
JBrowse link
G Mir125a microRNA 125a treatment IDA RGD PMID:31490757 RGD:26884457 NCBI chr 1:59,704,827...59,704,911
Ensembl chr 1:59,704,827...59,704,911
JBrowse link
G Mir126b microRNA 126b ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 3:4,042,488...4,042,560 JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:cerebral cortex, hippocampus RGD PMID:23182966 RGD:13204763 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mrgbp MRG domain binding protein ISO ClinVar Annotator: match by term: Epilepsy ClinVar PMID:25741868 NCBI chr 3:175,924,456...175,927,925
Ensembl chr 3:176,087,700...176,090,268
JBrowse link
G Msx2 msh homeobox 2 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr17:11,683,862...11,689,527
Ensembl chr17:11,683,862...11,689,527
JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Epilepsy ClinVar PMID:30311386 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Seizure Disorders ClinVar PMID:28027978 NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
JBrowse link
G Mt-cyb mitochondrially encoded cytochrome b ISO ClinVar Annotator: match by term: Seizure Disorders ClinVar PMID:28027978 NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
JBrowse link
G Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 ISO ClinVar Annotator: match by term: Seizure Disorders ClinVar PMID:28027978 NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942
JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Seizure Disorders
ClinVar Annotator: match by term: Seizures
ClinVar PMID:25741868, PMID:28027978 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:21907147, PMID:22499348, PMID:23499752, PMID:24088041, PMID:24123792, PMID:24461907, PMID:25058219, PMID:25288793, PMID:25741868, PMID:25911677, PMID:26060307, PMID:26633545, PMID:27290639, PMID:28058511, PMID:28492532, PMID:30311386 NCBI chr 8:70,952,209...70,986,393
Ensembl chr 8:70,952,203...70,986,408
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:27830187, PMID:28492532 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO ClinVar Annotator: match by term: Seizures
ClinVar Annotator: match by term: Seizure disorder
ClinVar PMID:8968736, PMID:9235907, PMID:12068375, PMID:25526710, PMID:25558065, PMID:25741868, PMID:25856670, PMID:28492532, PMID:28666289, PMID:30311386, PMID:32581362 NCBI chr17:66,210,444...66,295,014
Ensembl chr17:66,210,461...66,295,014
JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:10369261, PMID:10369262, PMID:11313769, PMID:12444096, PMID:12634869, PMID:15536479, PMID:21228398, PMID:22038276, PMID:23692791, PMID:23979089, PMID:24033266, PMID:24088041, PMID:24177804, PMID:24233262, PMID:24360083, PMID:24470648, PMID:24561416, PMID:25708585, PMID:25741868, PMID:25866490, PMID:26633545, PMID:26977311, PMID:28492532, PMID:30311386 NCBI chr12:47,904,266...47,920,457
Ensembl chr12:47,904,719...47,919,400
JBrowse link
G Mycbp2 MYC binding protein 2 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr15:87,405,472...87,450,812
NCBI chr15:93,678,062...93,901,556
Ensembl chr15:87,506,959...93,868,301
JBrowse link
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
JBrowse link
G Myocd myocardin ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25558065 NCBI chr10:51,682,053...51,781,458
Ensembl chr10:51,683,540...51,778,986
JBrowse link
G Myrf myelin regulatory factor ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 1:226,260,558...226,292,650
Ensembl chr 1:226,260,558...226,292,480
JBrowse link
G Nacc1 nucleus accumbens associated 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr19:25,783,686...25,801,526
Ensembl chr19:25,783,900...25,801,526
JBrowse link
G Nalcn sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:26923739 NCBI chr15:109,734,092...110,046,729
Ensembl chr15:109,735,595...110,046,704
JBrowse link
G Nbea neurobeachin ISO ClinVar Annotator: match by term: Epilepsy ClinVar PMID:25741868 NCBI chr 2:145,011,648...145,513,439 JBrowse link
G Nbn nibrin ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:9590180, PMID:9620777, PMID:10398434, PMID:10852373, PMID:11093281, PMID:11279524, PMID:11953735, PMID:12123493, PMID:12505263, PMID:12833396, PMID:14973119, PMID:15185344, PMID:16033915, PMID:16544999, PMID:17103455, PMID:18606567, PMID:18940477, PMID:19635536, PMID:19908051, PMID:20444919, PMID:22131123, PMID:22293976, PMID:22941933, PMID:23317186, PMID:23765759, PMID:24033266, PMID:24113799, PMID:25186627, PMID:25485873, PMID:25741868, PMID:25980754, PMID:26083025, PMID:26467025, PMID:26681312, PMID:26822949, PMID:26845104, PMID:27150568, PMID:27616075, PMID:28492532, PMID:30311386 NCBI chr 5:29,622,347...29,656,877
Ensembl chr 5:29,622,281...29,656,864
JBrowse link
G Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:10545952, PMID:11673586, PMID:12020273, PMID:14970747, PMID:16326995, PMID:23643385, PMID:25741868, PMID:30311386 NCBI chr 7:130,326,597...130,343,655
Ensembl chr 7:130,326,600...130,342,493
JBrowse link
G Ndufaf5 NADH:ubiquinone oxidoreductase complex assembly factor 5 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:28492532, PMID:30311386 NCBI chr 3:133,232,412...133,261,932
Ensembl chr 3:133,232,432...133,261,973
JBrowse link
G Necap1 NECAP endocytosis associated 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:28492532 NCBI chr 4:155,709,712...155,724,801
Ensembl chr 4:155,709,613...155,724,790
JBrowse link
G Nexmif neurite extension and migration factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29942082 NCBI chr  X:74,943,440...75,053,559
Ensembl chr  X:74,945,082...74,968,405
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:10543400, PMID:10607834, PMID:10862084, PMID:11258625, PMID:12566521, PMID:19076627, PMID:22155606, PMID:22190595, PMID:23668869, PMID:23758643, PMID:25741868, PMID:28492532, PMID:30311386, PMID:31533797 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
JBrowse link
G Nf2 neurofibromin 2 IEP protein:increased expression:cerebral cortex, hippocampus RGD PMID:16468657 RGD:2315002 NCBI chr14:84,996,905...85,088,547
Ensembl chr14:84,996,905...85,088,523
JBrowse link
G Nhlrc1 NHL repeat containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:12958597, PMID:16529633, PMID:18414213, PMID:23806086, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr17:18,059,382...18,060,572
Ensembl chr17:18,059,382...18,060,572
JBrowse link
G Nipa1 NIPA magnesium transporter 1 ISO ClinVar Annotator: match by term: Epilepsy ClinVar PMID:30311386 NCBI chr 1:114,385,484...114,422,741
Ensembl chr 1:114,386,757...114,422,733
JBrowse link
G Nnt nicotinamide nucleotide transhydrogenase ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:28492532, PMID:30311386 NCBI chr 2:52,189,523...52,283,095
Ensembl chr 2:52,189,529...52,282,548
JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
G Notch3 notch receptor 3 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr 7:14,138,495...14,189,688
Ensembl chr 7:14,138,495...14,189,688
JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Epilepsy ClinVar PMID:28492532 NCBI chr18:3,616,878...3,662,656
Ensembl chr18:3,616,878...3,662,683
JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:28492532, PMID:30311386 NCBI chr 5:59,128,186...59,147,321
Ensembl chr 5:59,128,315...59,147,255
JBrowse link
G Nprl2 NPR2-like, GATOR1 complex subunit ISO ClinVar Annotator: match by term: Epilepsy ClinVar PMID:30311386 NCBI chr 8:116,297,950...116,301,123
Ensembl chr 8:116,297,950...116,301,122
JBrowse link
G Nprl3 NPR3-like, GATOR1 complex subunit ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:28492532 NCBI chr10:15,620,824...15,661,332
Ensembl chr10:15,620,871...15,661,331
JBrowse link
G Npy neuropeptide Y ISO CTD Direct Evidence: therapeutic CTD PMID:8868293, PMID:20064661 NCBI chr 4:79,557,856...79,565,059
Ensembl chr 4:79,557,854...79,565,097
JBrowse link
G Npy2r neuropeptide Y receptor Y2 ISO CTD Direct Evidence: therapeutic CTD PMID:8868293 NCBI chr 2:181,528,949...181,538,145
Ensembl chr 2:181,530,832...181,531,978
JBrowse link
G Nr1i2 nuclear receptor subfamily 1, group I, member 2 treatment IEP RGD PMID:28303499 RGD:13524859 NCBI chr11:65,022,100...65,058,546
Ensembl chr11:65,022,100...65,058,545
JBrowse link
G Nr4a2 nuclear receptor subfamily 4, group A, member 2 ISO ClinVar Annotator: match by term: Seizure Disorders ClinVar NCBI chr 3:43,111,258...43,128,391
Ensembl chr 3:43,111,240...43,119,159
JBrowse link
G Nrxn1 neurexin 1 ISO ClinVar Annotator: match by term: Seizure Disorders
ClinVar Annotator: match by term: Seizures
ClinVar PMID:28492532, PMID:30311386 NCBI chr 6:13,886,757...15,191,660
Ensembl chr 6:13,886,740...15,191,660
JBrowse link
G Nrxn2 neurexin 2 ISO ClinVar Annotator: match by term: Seizure Disorders ClinVar NCBI chr 1:221,792,191...221,908,047
Ensembl chr 1:221,792,221...221,908,049
JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Seizures
ClinVar Annotator: match by term: Epilepsy
ClinVar PMID:28492532, PMID:30311386 NCBI chr17:9,840,859...9,955,391
Ensembl chr17:9,844,133...9,952,898
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 NCBI chr  X:152,933,118...152,964,399
Ensembl chr  X:152,933,069...152,964,390
JBrowse link
G Ntng1 netrin G1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr 2:212,695,464...213,073,046
Ensembl chr 2:212,696,624...212,852,870
JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 ISO RGD PMID:20445044 RGD:5684907 NCBI chr17:5,934,651...6,245,778
Ensembl chr17:5,933,729...6,244,676
JBrowse link
G Ntsr1 neurotensin receptor 1 ISO ClinVar Annotator: match by term: Epilepsy ClinVar PMID:25741868 NCBI chr 3:175,982,313...176,046,345
Ensembl chr 3:175,885,894...176,046,345
JBrowse link
G Nup133 nucleoporin 133 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr19:56,681,965...56,731,404
Ensembl chr19:56,681,979...56,731,372
JBrowse link
G Ogfr opioid growth factor receptor ISO ClinVar Annotator: match by term: Epilepsy ClinVar PMID:25741868 NCBI chr 3:176,093,662...176,099,949
Ensembl chr 3:175,930,505...176,099,987
JBrowse link
G Oprd1 opioid receptor, delta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2415332 NCBI chr 5:150,288,126...150,323,063
Ensembl chr 5:150,288,126...150,323,063
JBrowse link
G Oprm1 opioid receptor, mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2415332 NCBI chr 1:43,454,803...43,704,948
Ensembl chr 1:43,454,803...43,704,948
JBrowse link
G Otc ornithine transcarbamylase ISO ClinVar Annotator: match by term: Epilepsy ClinVar PMID:30311386 NCBI chr  X:13,524,804...13,601,074
Ensembl chr  X:13,524,607...13,601,069
JBrowse link
G Otog otogelin ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:10655058, PMID:24033266, PMID:25741868, PMID:28492532, PMID:29907799 NCBI chr 1:102,258,124...102,327,201
Ensembl chr 1:102,258,124...102,327,201
JBrowse link
G Otud6b OTU deubiquitinase 6B ISO ClinVar Annotator: match by term: Seizure Disorders ClinVar PMID:25741868, PMID:28343629 NCBI chr 5:28,333,019...28,350,093
Ensembl chr 5:28,333,019...28,349,927
JBrowse link
G Oxr1 oxidation resistance 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:31785787 NCBI chr 7:80,351,774...80,788,094
Ensembl chr 7:80,351,774...80,788,094
JBrowse link
G P2rx2 purinergic receptor P2X 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12941474 NCBI chr12:52,397,666...52,401,005
Ensembl chr12:52,397,792...52,401,015
JBrowse link
G P2rx4 purinergic receptor P2X 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12941474 NCBI chr12:39,308,022...39,325,673
Ensembl chr12:39,308,025...39,325,673
JBrowse link
G P2ry4 pyrimidinergic receptor P2Y4 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr  X:70,421,599...70,447,109
Ensembl chr  X:70,426,951...70,428,364
JBrowse link
G Pacs1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:9695949, PMID:23159249, PMID:25326635, PMID:25356970, PMID:25522177, PMID:25741868, PMID:25741881, PMID:26795593, PMID:26842493, PMID:26944241, PMID:27681385, PMID:28111752, PMID:28471432, PMID:28492532, PMID:28554332, PMID:28628100, PMID:28975623, PMID:29550517, PMID:30113927, PMID:30311386, PMID:30690871, PMID:32963807 NCBI chr 1:220,515,117...220,645,611
Ensembl chr 1:220,516,316...220,644,636
JBrowse link
G Pacs2 phosphofurin acidic cluster sorting protein 2 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 6:137,824,136...137,889,144
Ensembl chr 6:137,824,213...137,887,418
JBrowse link
G Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:1301187, PMID:9298832, PMID:11486900, PMID:15171997, PMID:15557004, PMID:16198137, PMID:17935162, PMID:18299955, PMID:18538294, PMID:18956252, PMID:21147011, PMID:22330942, PMID:23500595, PMID:23559577, PMID:23764561, PMID:23792259, PMID:24033266, PMID:24350308, PMID:25155776, PMID:25596310, PMID:25741868, PMID:26467025, PMID:26666653, PMID:26803807, PMID:27682710, PMID:28492532, PMID:30311386 NCBI chr 7:28,066,639...28,129,772
Ensembl chr 7:28,066,635...28,129,769
JBrowse link
G Pcdh19 protocadherin 19 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Seizures
ClinVar Annotator: match by term: Epilepsy
CTD
ClinVar
PMID:18469813, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr  X:104,387,346...104,493,914
Ensembl chr  X:104,391,607...104,493,757
JBrowse link
G Pcdhb5 protocadherin beta 5 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25558065 NCBI chr18:30,398,113...30,400,695
Ensembl chr18:30,398,113...30,400,695
JBrowse link
G Pclo piccolo (presynaptic cytomatrix protein) ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25074461 NCBI chr 4:16,454,904...17,058,921
Ensembl chr 4:16,454,904...17,058,921
JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868, PMID:30311386 NCBI chr  X:37,329,779...37,343,410
Ensembl chr  X:37,329,779...37,343,410
JBrowse link
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr15:18,540,826...18,546,855
Ensembl chr15:18,539,210...18,546,854
JBrowse link
G Pdzd11 PDZ domain containing 11 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr  X:70,458,601...70,461,635
Ensembl chr  X:70,458,603...70,461,635
JBrowse link
G Pex2 peroxisomal biogenesis factor 2 ISO ClinVar Annotator: match by term: Epilepsy ClinVar PMID:1546315, PMID:9452066, PMID:9585609, PMID:10528859, PMID:21031596, PMID:28492532, PMID:30311386 NCBI chr 2:98,251,756...98,269,185
Ensembl chr 2:98,252,925...98,269,184
JBrowse link
G Pex7 peroxisomal biogenesis factor 7 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:8295403, PMID:10083738, PMID:11781871, PMID:21465523, PMID:26587300, PMID:28492532, PMID:30311386 NCBI chr 1:15,311,768...15,374,702
Ensembl chr 1:15,311,770...15,374,850
JBrowse link
G Pgf placental growth factor ISO protein:increased expression:cerebrospinal fluid RGD PMID:22160787 RGD:6483572 NCBI chr 6:108,994,016...109,004,598
Ensembl chr 6:108,994,018...109,004,598
JBrowse link
G Phf6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr  X:158,698,353...158,739,855
Ensembl chr  X:158,698,356...158,739,838
Ensembl chr  X:158,698,356...158,739,838
JBrowse link
G Phf8 PHD finger protein 8 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr  X:21,063,487...21,168,750
Ensembl chr  X:21,063,562...21,168,750
JBrowse link
G Phgdh phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868, PMID:30311386 NCBI chr 2:200,484,245...200,513,564
Ensembl chr 2:200,484,246...200,513,564
JBrowse link
G Phox2b paired-like homeobox 2b ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr14:42,711,169...42,718,707
Ensembl chr14:42,714,315...42,717,010
JBrowse link
G Pigg phosphatidylinositol glycan anchor biosynthesis, class G ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 NCBI chr14:2,410,339...2,438,630
Ensembl chr14:2,410,342...2,438,592
JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:28492532 NCBI chr 5:58,461,055...58,470,699
Ensembl chr 5:58,461,759...58,469,399
JBrowse link
G Pigp phosphatidylinositol glycan anchor biosynthesis, class P ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr11:34,592,128...34,598,253
Ensembl chr11:34,592,121...34,598,275
JBrowse link
G Pigq phosphatidylinositol glycan anchor biosynthesis, class Q ISO ClinVar Annotator: match by term: Seizure Disorders
ClinVar Annotator: match by term: Seizures
ClinVar PMID:9463366, PMID:9729469, PMID:10373468, PMID:11418246, PMID:22265715, PMID:24463883, PMID:24852103, PMID:25558065, PMID:25741868, PMID:25851949, PMID:27513193, PMID:28492532, PMID:30311386, PMID:31148362 NCBI chr10:15,289,530...15,305,593
Ensembl chr10:15,289,536...15,305,549
JBrowse link
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 ISO ClinVar Annotator: match by term: Epilepsy ClinVar PMID:30311386 NCBI chr16:20,415,109...20,424,982
Ensembl chr16:20,416,432...20,424,980
JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 NCBI chr10:13,914,057...13,962,008
Ensembl chr10:13,915,214...13,962,008
JBrowse link
G Plcb1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:18414213, PMID:24747189, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 3:127,721,244...128,419,565
Ensembl chr 3:128,155,069...128,419,545
JBrowse link
G Plp1 proteolipid protein 1 ISO ClinVar Annotator: match by term: Epilepsy ClinVar PMID:25741868, PMID:30311386 NCBI chr  X:107,494,326...107,511,355
Ensembl chr  X:107,496,072...107,511,348
JBrowse link
G Plxna1 plexin A1 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 4:121,217,658...121,262,697
Ensembl chr 4:121,217,629...121,257,885
JBrowse link
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 1:100,853,475...100,859,202
Ensembl chr 1:100,853,902...100,859,084
JBrowse link
G Pnpo pyridoxamine 5'-phosphate oxidase ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:24266778, PMID:24645144, PMID:24658933, PMID:24781210, PMID:25741868, PMID:25762494, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr10:84,874,926...84,881,190
Ensembl chr10:84,874,927...84,881,190
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO DNA:missense mutations:cds:p.A467T,p.W748S(human)
ClinVar Annotator: match by term: Seizures
ClinVar Annotator: match by term: Seizure Disorders
ClinVar Annotator: match by term: Epilepsy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:632821, PMID:11431686, PMID:11571332, PMID:12073019, PMID:12210792, PMID:12297582, PMID:12565911, PMID:12707443, PMID:12825077, PMID:12872260, PMID:12975295, PMID:14557557, PMID:14635118, PMID:14694057, PMID:15122711, PMID:15181170, PMID:15349879, PMID:15351195, PMID:15477547, PMID:15534189, PMID:15689359, PMID:15824347, PMID:15917273, PMID:15929042, PMID:16024923, PMID:16080118, PMID:16130100, PMID:16177225, PMID:16368709, PMID:16401742, PMID:16545482, PMID:16621917, PMID:16634032, PMID:16638794, PMID:16639411, PMID:16715201, PMID:16929381, PMID:16940310, PMID:16943369, PMID:17088268, PMID:17280874, PMID:17426723, PMID:17436221, PMID:17438011, PMID:17452231, PMID:17846414, PMID:17894835, PMID:17950645, PMID:17980715, PMID:18156159, PMID:18195149, PMID:18195151, PMID:18294203, PMID:18321754, PMID:18414213, PMID:18487244, PMID:18500570, PMID:18546343, PMID:18546365, PMID:18585914, PMID:18716558, PMID:18783964, PMID:18828154, PMID:18991199, PMID:19010300, PMID:19103152, PMID:19125351, PMID:19189930, PMID:19251978, PMID:19307547, PMID:19364868, PMID:19478085, PMID:19501198, PMID:19538466, PMID:19566497, PMID:19578034, PMID:19629138, PMID:19752458, PMID:19762913, PMID:19766516, PMID:19813183, PMID:19815814, PMID:20138553, PMID:20142534, PMID:20153822, PMID:20176107, PMID:20185557, PMID:20227526, PMID:20301791, PMID:20385918, PMID:20434700, PMID:20438629, PMID:20513108, PMID:20576279, PMID:20691285, PMID:20803511, PMID:20818383, PMID:20837861, PMID:20843780, PMID:20981092, PMID:21038416, PMID:21138766, PMID:21228000, PMID:21228398, PMID:21235791, PMID:21236670, PMID:21276947, PMID:21305355, PMID:21357833, PMID:21455106, PMID:21515089, PMID:21647632, PMID:21654874, PMID:21670405, PMID:21686371, PMID:21824913, PMID:21856450, PMID:21880868, PMID:21956653, PMID:21993618, PMID:22006280, PMID:22166854, PMID:22189570, PMID:22237560, PMID:22342071, PMID:22616202, PMID:22647225, PMID:22711370, PMID:22727047, PMID:22931735, PMID:22933815, PMID:22987704, PMID:22995991, PMID:23066759, PMID:23077218, PMID:23208208, PMID:23212759, PMID:23248042, PMID:23250882, PMID:23251356, PMID:23299917, PMID:23324391, PMID:23426270, PMID:23430834, PMID:23446635, PMID:23448099, PMID:23545419, PMID:23665194, PMID:23783014, PMID:23804100, PMID:23808377, PMID:23811324, PMID:23873972, PMID:23921535, PMID:24033266, PMID:24091540, PMID:24122062, PMID:24259288, PMID:24265579, PMID:24272679, PMID:24331360, PMID:24508722, PMID:24725338, PMID:24841123, PMID:25025039, PMID:25118206, PMID:25281868, PMID:25286830, PMID:25356970, PMID:25462018, PMID:25488682, PMID:25585994, PMID:25660390, PMID:25713120, PMID:25741868, PMID:25850945, PMID:25940035, PMID:26077851, PMID:26095671, PMID:26104464, PMID:26337858, PMID:26357557, PMID:26467025, PMID:26468652, PMID:26557169, PMID:26607151, PMID:26735972, PMID:26755490, PMID:26942291, PMID:26942292, PMID:26968897, PMID:27016405, PMID:27119776, PMID:27185166, PMID:27271921, PMID:27290639, PMID:27345795, PMID:27422324, PMID:27538604, PMID:27822509, PMID:27826120, PMID:27838477, PMID:27987238, PMID:28128857, PMID:28130605, PMID:28154168, PMID:28206745, PMID:28284481, PMID:28337550, PMID:28471437, PMID:28480171, PMID:28492532, PMID:28634151, PMID:28771251, PMID:28776642, PMID:28812649, PMID:28837072, PMID:28865037, PMID:28901595, PMID:28958595, PMID:29029963, PMID:29190809, PMID:29272804, PMID:29341116, PMID:29358615, PMID:29423831, PMID:29474836, PMID:29574624, PMID:29588995, PMID:29712893, PMID:29920680, PMID:29992832, PMID:30021052, PMID:30255931, PMID:30311386, PMID:30373890, PMID:30843307, PMID:18238797 RGD:8694298 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
G Polk DNA polymerase kappa ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868, PMID:26046662 NCBI chr 2:27,305,718...27,364,906
Ensembl chr 2:27,305,728...27,364,906
JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Epilepsy ClinVar PMID:21131976, PMID:25741868, PMID:30311386 NCBI chr 9:17,120,759...17,124,871
Ensembl chr 9:17,120,759...17,124,871
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:20708863 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:15637732, PMID:17559086, PMID:18513969, PMID:19222032, PMID:25326635, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 3:11,253,424...11,271,873
Ensembl chr 3:11,254,026...11,271,872
JBrowse link
G Ppia peptidylprolyl isomerase A IDA RGD PMID:20626060 RGD:4890972 NCBI chr14:86,673,775...86,677,443
Ensembl chr14:86,673,775...86,677,443
JBrowse link
G Ppp3ca protein phosphatase 3 catalytic subunit alpha ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868, PMID:28942967, PMID:30311386 NCBI chr 2:241,909,332...242,186,861
Ensembl chr 2:241,909,832...242,184,854
JBrowse link
G Ppt1 palmitoyl-protein thioesterase 1 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 5:140,538,260...140,558,163
Ensembl chr 5:140,538,260...140,558,162
JBrowse link
G Prickle1 prickle planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:18414213, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29358611 NCBI chr 7:134,702,964...134,799,437
Ensembl chr 7:134,702,964...134,722,215
JBrowse link
G Prickle2 prickle planar cell polarity protein 2 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 4:124,238,167...124,584,176
Ensembl chr 4:124,238,167...124,338,176
JBrowse link
G Prodh1 proline dehydrogenase 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:11510941, PMID:12217952, PMID:15662599, PMID:20524212, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr11:87,058,478...87,075,785
Ensembl chr11:87,058,616...87,075,785
JBrowse link
G Prop1 PROP paired-like homeobox 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:11549674, PMID:15126542, PMID:15472232, PMID:16735499, PMID:17526936, PMID:21863341, PMID:22024773, PMID:26608600, PMID:26886902, PMID:28492532, PMID:28734020, PMID:30266296, PMID:30311386 NCBI chr10:36,449,920...36,452,381
Ensembl chr10:36,449,920...36,452,378
JBrowse link
G Prrt2 proline-rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:11179027, PMID:22101681, PMID:22120146, PMID:22131361, PMID:22209761, PMID:22243967, PMID:22399141, PMID:22623405, PMID:22744660, PMID:22782515, PMID:22832103, PMID:22845787, PMID:22870186, PMID:22875091, PMID:22877996, PMID:22985072, PMID:23077017, PMID:23077024, PMID:23077026, PMID:23126439, PMID:23180180, PMID:23182655, PMID:23299620, PMID:23343561, PMID:23532549, PMID:23535490, PMID:23768507, PMID:23771590, PMID:24074546, PMID:24370076, PMID:24609974, PMID:24661410, PMID:25457817, PMID:25502464, PMID:25522171, PMID:25595153, PMID:25667652, PMID:25741868, PMID:25915028, PMID:26384010, PMID:26446061, PMID:26467025, PMID:26544041, PMID:26561923, PMID:26598493, PMID:26598494, PMID:26621826, PMID:26717662, PMID:26876767, PMID:26993267, PMID:27123484, PMID:28074849, PMID:28492532, PMID:29334453, PMID:30311386 NCBI chr 1:198,451,042...198,454,998
Ensembl chr 1:198,451,324...198,454,914
JBrowse link
G Psph phosphoserine phosphatase ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr12:30,514,128...30,526,551
Ensembl chr12:30,514,112...30,526,557
JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25669429, PMID:25741868, PMID:27535533, PMID:30311386 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Pum1 pumilio RNA-binding family member 1 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 5:148,781,239...148,911,776
Ensembl chr 5:148,781,222...148,911,803
JBrowse link
G Pura purine rich element binding protein A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Seizures
CTD
ClinVar
PMID:29942082, PMID:30311386 NCBI chr18:29,104,712...29,114,918
Ensembl chr18:29,110,242...29,111,156
JBrowse link
G Qars1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr 8:117,297,670...117,305,708
Ensembl chr 8:117,297,670...117,305,702
JBrowse link
G Rab40c Rab40c, member RAS oncogene family ISO ClinVar Annotator: match by term: Epilepsy ClinVar PMID:28492532 NCBI chr10:15,247,913...15,283,111
Ensembl chr10:15,247,914...15,282,951
JBrowse link
G Rab9b RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Epilepsy ClinVar PMID:25741868, PMID:30311386 NCBI chr  X:107,531,404...107,542,510
Ensembl chr  X:107,531,404...107,542,510
JBrowse link
G Rai1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr10:46,511,271...46,571,591
Ensembl chr10:46,511,271...46,571,583
JBrowse link
G Rapsn receptor-associated protein of the synapse ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:11791205, PMID:12651869, PMID:12730725, PMID:12796535, PMID:12807980, PMID:12929188, PMID:14504330, PMID:14659409, PMID:14729848, PMID:15036330, PMID:15286164, PMID:15328566, PMID:15482960, PMID:16945936, PMID:17190963, PMID:19620612, PMID:20157724, PMID:20562457, PMID:20930056, PMID:21228398, PMID:21305573, PMID:24033266, PMID:24319099, PMID:25194721, PMID:25264167, PMID:25741868, PMID:26467025, PMID:26782015, PMID:26910802, PMID:26927095, PMID:28492532, PMID:29053879, PMID:29054425, PMID:29189923, PMID:30124556, PMID:30266223, PMID:30311386 NCBI chr 3:79,859,815...79,869,486
Ensembl chr 3:79,860,179...79,869,524
JBrowse link
G Recql RecQ like helicase ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 NCBI chr 4:176,581,892...176,606,520
Ensembl chr 4:176,581,897...176,606,382
JBrowse link
G Recql4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:24728327, PMID:28492532, PMID:30311386 NCBI chr 7:117,765,892...117,773,128
Ensembl chr 7:117,763,783...117,773,134
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit treatment IEP RGD PMID:28303499 RGD:13524859 NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
JBrowse link
G Reln reelin ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:28492532 NCBI chr 4:9,347,533...9,774,257
Ensembl chr 4:9,347,528...9,773,670
JBrowse link
G Rft1 RFT1 homolog ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr16:6,712,387...6,746,711
Ensembl chr16:6,712,389...6,746,696
JBrowse link
G RGD1311251 similar to RIKEN cDNA 4930550C14 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:9887333, PMID:10330348, PMID:10817650, PMID:10980530, PMID:12810666, PMID:15390180, PMID:16266405, PMID:20153123, PMID:22585167, PMID:25614872, PMID:25741868, PMID:26506520, PMID:27159176, PMID:28492532, PMID:30311386 NCBI chr 8:57,983,168...58,012,474
Ensembl chr 8:57,983,556...58,011,962
JBrowse link
G Rgs4 regulator of G-protein signaling 4 treatment IDA RGD PMID:28320185 RGD:13524511 NCBI chr13:88,054,817...88,061,108
Ensembl chr13:88,054,817...88,061,108
JBrowse link
G Rheb Ras homolog, mTORC1 binding ISO ClinVar Annotator: match by term: Epilepsy ClinVar PMID:25741868 NCBI chr 4:6,827,429...6,873,384
Ensembl chr 4:6,827,429...6,873,383
JBrowse link
G Ripply3 ripply transcriptional repressor 3 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr11:34,557,679...34,565,776
Ensembl chr11:34,557,679...34,565,776
JBrowse link
G Rogdi rogdi atypical leucine zipper ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:28492532 NCBI chr10:10,761,477...10,766,096
Ensembl chr10:10,761,477...10,766,095
JBrowse link
G Rorb RAR-related orphan receptor B ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 1:234,252,757...234,442,597
Ensembl chr 1:234,252,757...234,435,839
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr 3:104,117,307...104,665,151
Ensembl chr 3:104,118,063...104,504,204
JBrowse link
G S100b S100 calcium binding protein B IEP protein:increased expression:hippocampus RGD PMID:21402140 RGD:5508766 NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856
JBrowse link
G Scamp5 secretory carrier membrane protein 5 ISS MouseDO NCBI chr 8:62,221,820...62,266,269
Ensembl chr 8:62,220,892...62,248,017
JBrowse link
G Scarb2 scavenger receptor class B, member 2 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:18308289, PMID:25088547, PMID:25741868, PMID:26467025, PMID:26836416, PMID:28222800, PMID:28492532, PMID:29261713, PMID:29358611 NCBI chr14:17,064,173...17,115,620
Ensembl chr14:17,064,353...17,115,963
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Seizure Disorders
ClinVar Annotator: match by term: Seizures
ClinVar Annotator: match by term: Epilepsy
ClinVar Annotator: match by term: Seizure disorder
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11254444, PMID:11254445, PMID:12566275, PMID:12610651, PMID:12754708, PMID:14504318, PMID:14738421, PMID:15805193, PMID:17054684, PMID:17054685, PMID:17347258, PMID:17561957, PMID:18021921, PMID:18056581, PMID:18413471, PMID:18414213, PMID:18804930, PMID:18930999, PMID:19200853, PMID:19236456, PMID:19359143, PMID:19522081, PMID:19585586, PMID:19589774, PMID:19694741, PMID:20431604, PMID:20729507, PMID:20879882, PMID:21248271, PMID:21396429, PMID:21703448, PMID:21713554, PMID:21719429, PMID:21868258, PMID:22011963, PMID:22550089, PMID:22612257, PMID:22780858, PMID:22848613, PMID:23195492, PMID:23398611, PMID:23708187, PMID:23808377, PMID:23934111, PMID:24168886, PMID:24328833, PMID:24337656, PMID:24464349, PMID:25348405, PMID:25669891, PMID:25741868, PMID:25885068, PMID:26096185, PMID:26467025, PMID:26845707, PMID:26990884, PMID:27113213, PMID:27236449, PMID:27864847, PMID:28492532, PMID:28544625, PMID:29358611, PMID:29852413, PMID:29942082, PMID:30311386, PMID:32581362 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Epilepsy
ClinVar Annotator: match by term: Seizures
ClinVar PMID:5421039, PMID:9461582, PMID:9539778, PMID:9697698, PMID:9894880, PMID:11254444, PMID:11263970, PMID:11866477, PMID:12011299, PMID:12486163, PMID:14504340, PMID:14690046, PMID:15671291, PMID:15710580, PMID:15857929, PMID:16205844, PMID:17020904, PMID:17928445, PMID:18941776, PMID:19522081, PMID:20226894, PMID:20437590, PMID:20628201, PMID:20662403, PMID:21994374, PMID:22292491, PMID:22425777, PMID:23527921, PMID:23584539, PMID:23861362, PMID:24065921, PMID:24529773, PMID:24567321, PMID:24605816, PMID:24623842, PMID:24662403, PMID:24747835, PMID:25253298, PMID:25668026, PMID:25741868, PMID:25827112, PMID:26042039, PMID:26467025, PMID:27207958, PMID:27216889, PMID:27277800, PMID:28331474, PMID:28492532, PMID:28837624, PMID:206282012 NCBI chr 1:89,550,738...89,560,469
Ensembl chr 1:89,550,738...89,560,719
JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Seizures
ClinVar Annotator: match by term: Epilepsy
CTD
ClinVar
PMID:16464983, PMID:18414213, PMID:23708187, PMID:25741868, PMID:28492532, PMID:29942082, PMID:30311386 NCBI chr 3:51,687,910...51,822,008
Ensembl chr 3:51,687,809...51,822,250
JBrowse link
G Scn3a sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Epilepsy ClinVar PMID:25741868 NCBI chr 3:51,530,897...51,643,140
Ensembl chr 3:51,532,627...51,643,140
JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Seizures
ClinVar Annotator: match by term: Epilepsy
CTD
ClinVar
PMID:23708187, PMID:25741868, PMID:26993267, PMID:27864847, PMID:28492532, PMID:28923014, PMID:29432985, PMID:29942082, PMID:30171078, PMID:30615093, PMID:32581362 NCBI chr 7:142,575,629...142,683,659
Ensembl chr 7:142,575,672...142,684,114
JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Epilepsy
ClinVar Annotator: match by term: Seizures
ClinVar PMID:19763161, PMID:21698661, PMID:22136189, PMID:23280954, PMID:25741868, PMID:25993546, PMID:26264438, PMID:26467025, PMID:26675522, PMID:26920677, PMID:28492532, PMID:28590052, PMID:29176367, PMID:29911575, PMID:30311386, PMID:30316835 NCBI chr 3:52,583,953...52,664,209
Ensembl chr 3:52,583,951...52,664,209
JBrowse link
G Sec16a SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 3:3,856,218...3,890,785
Ensembl chr 3:3,856,218...3,890,758
JBrowse link
G Sec24d SEC24 homolog D, COPII coat complex component ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25558065 NCBI chr 2:227,455,704...227,562,801
Ensembl chr 2:227,455,722...227,562,319
JBrowse link
G Selenow selenoprotein W ISO CTD Direct Evidence: marker/mechanism CTD PMID:19499324 NCBI chr 1:77,530,692...77,535,765
Ensembl chr 1:77,533,148...77,535,681
Ensembl chr 1:77,533,148...77,535,681
JBrowse link
G Sema3a semaphorin 3A ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25074461 NCBI chr 4:18,170,375...18,545,190
Ensembl chr 4:18,178,656...18,396,035
JBrowse link
G Sema3c semaphorin 3C ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25074461 NCBI chr 4:14,318,276...14,490,438
Ensembl chr 4:14,318,274...14,490,446
JBrowse link
G Sema3d semaphorin 3D ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25074461 NCBI chr 4:19,224,378...19,413,519
Ensembl chr 4:19,224,310...19,413,484
JBrowse link
G Sema3e semaphorin 3E ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25074461 NCBI chr 4:17,314,745...17,594,659
Ensembl chr 4:17,272,511...17,594,598
JBrowse link
G Setbp1 SET binding protein 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868, PMID:30311386 NCBI chr18:75,090,733...75,432,446
Ensembl chr18:75,095,632...75,207,306
JBrowse link
G Setd1a SET domain containing 1A, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr 1:199,222,584...199,247,993
Ensembl chr 1:199,225,100...199,247,988
JBrowse link
G Setd1b SET domain containing 1B, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Epilepsy ClinVar PMID:25741868 NCBI chr12:38,843,167...38,869,180
Ensembl chr12:38,845,621...38,869,346
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:26467025, PMID:30311386 NCBI chr 3:7,680,430...7,731,815
Ensembl chr 3:7,686,503...7,730,539
JBrowse link
G Sgce sarcoglycan, epsilon ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr 4:29,726,140...29,769,902
Ensembl chr 4:29,726,146...29,778,039
JBrowse link
G Sgsh N-sulfoglucosamine sulfohydrolase ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:9285796, PMID:9401012, PMID:10601282, PMID:11182930, PMID:15146460, PMID:15542396, PMID:18407553, PMID:21061399, PMID:22976768, PMID:24314109, PMID:25741868, PMID:28492532, PMID:28844463, PMID:30311386, PMID:30809705, PMID:31536183 NCBI chr10:108,469,312...108,479,094 JBrowse link
G Shank3 SH3 and multiple ankyrin repeat domains 3 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:32581362 NCBI chr 7:130,474,278...130,534,679
Ensembl chr 7:130,474,279...130,534,679
JBrowse link
G Sik1 salt-inducible kinase 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr20:10,670,747...10,680,279
Ensembl chr20:10,668,411...10,680,283
JBrowse link
G Sim2 SIM bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr11:34,315,739...34,355,183
Ensembl chr11:34,316,295...34,354,027
JBrowse link
G Sin3a SIN3 transcription regulator family member A ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr 8:61,748,590...61,803,314
Ensembl chr 8:61,762,768...61,803,099
JBrowse link
G Sirt1 sirtuin 1 IEP protein:increased expression:brain RGD PMID:23644113 RGD:9585747 NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
JBrowse link
G Slc12a2 solute carrier family 12 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18550034 NCBI chr18:52,917,124...52,985,281
Ensembl chr18:52,917,124...52,985,261
JBrowse link
G Slc12a5 solute carrier family 12 member 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Seizures
CTD
ClinVar
PMID:12000122, PMID:18550034, PMID:30311386 NCBI chr 3:161,433,303...161,465,078
Ensembl chr 3:161,425,988...161,462,879
JBrowse link
G Slc13a5 solute carrier family 13 member 5 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868, PMID:26467025, PMID:27600704, PMID:28492532, PMID:28673551 NCBI chr10:58,806,581...58,835,549
Ensembl chr10:58,810,058...58,834,538
JBrowse link
G Slc17a5 solute carrier family 17 member 5 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:10581036, PMID:10947946, PMID:11992753, PMID:12359136, PMID:12794687, PMID:12794688, PMID:15510212, PMID:15516337, PMID:18695252, PMID:20301643, PMID:21781115, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 8:85,891,245...85,926,466
Ensembl chr 8:85,891,257...85,926,450
JBrowse link
G Slc19a3 solute carrier family 19 member 3 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:28492532 NCBI chr 9:88,762,775...88,828,553
Ensembl chr 9:88,764,073...88,816,898
JBrowse link
G Slc1a1 solute carrier family 1 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12151515 NCBI chr 1:246,955,017...247,035,159
Ensembl chr 1:246,954,980...247,037,056
JBrowse link
G Slc1a2 solute carrier family 1 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19853022 NCBI chr 3:92,518,679...92,665,731
Ensembl chr 3:92,640,752...92,665,644
JBrowse link
G Slc1a3 solute carrier family 1 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19853022 NCBI chr 2:57,860,881...57,935,363
Ensembl chr 2:57,860,834...57,935,363
JBrowse link
G Slc25a1 solute carrier family 25 member 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:23561848, PMID:30311386 NCBI chr11:87,204,248...87,207,265
Ensembl chr11:87,204,175...87,207,264
JBrowse link
G Slc25a12 solute carrier family 25 member 12 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:28492532 NCBI chr 3:57,881,951...57,998,214
Ensembl chr 3:57,882,370...57,957,346
JBrowse link
G Slc25a22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Epilepsy
ClinVar Annotator: match by term: Seizures
ClinVar PMID:18414213, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 1:214,410,388...214,418,236
Ensembl chr 1:214,410,417...214,414,897
JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:1714544, PMID:10766892, PMID:10980529, PMID:12752470, PMID:18577546, PMID:19798636, PMID:20129935, PMID:20221955, PMID:20687207, PMID:21555602, PMID:21791420, PMID:21832227, PMID:22492876, PMID:23280796, PMID:23306390, PMID:23443458, PMID:24963779, PMID:25326635, PMID:25741868, PMID:26193382, PMID:26216499, PMID:26304067, PMID:26336901, PMID:26537434, PMID:26598494, PMID:28492532 NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
JBrowse link
G Slc35a3 solute carrier family 35 member A3 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr 2:219,705,618...219,741,886
Ensembl chr 2:219,705,620...219,741,886
JBrowse link
G Slc38a11 solute carrier family 38, member 11 ISO ClinVar Annotator: match by term: Epilepsy ClinVar PMID:25741868 NCBI chr 3:51,370,388...51,416,873
Ensembl chr 3:51,371,923...51,416,646
JBrowse link
G Slc4a10 solute carrier family 4 member 10 ISO CTD Direct Evidence: therapeutic CTD PMID:18165320 NCBI chr 3:47,995,812...48,287,897
Ensembl chr 3:47,995,959...48,287,910
JBrowse link
G Slc6a1 solute carrier family 6 member 1 IEP
ISO
protein:decreased expression:hippocampus
ClinVar Annotator: match by term: Seizures
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:28492532, PMID:29942082, PMID:32581362, PMID:12196583 RGD:1643214 NCBI chr 4:146,258,842...146,292,176
Ensembl chr 4:146,276,862...146,292,213
JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 NCBI chr  X:157,129,987...157,139,321
Ensembl chr  X:157,129,987...157,139,291
JBrowse link
G Slco1a5 solute carrier organic anion transporter family, member 1A5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19570321 NCBI chr 4:176,445,856...176,528,117
Ensembl chr 4:176,445,858...176,528,110
JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:28492532, PMID:30311386 NCBI chr 8:22,648,323...22,739,468
Ensembl chr 8:22,648,323...22,739,468
JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29942082 NCBI chr  X:21,710,976...21,755,708
Ensembl chr  X:21,711,019...21,755,525
JBrowse link
G Snap25 synaptosome associated protein 25 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Seizures
CTD
ClinVar
PMID:26467025, PMID:28492532, PMID:29942082 NCBI chr 3:129,697,408...129,788,417
Ensembl chr 3:129,599,353...129,788,400
JBrowse link
G Snx14 sorting nexin 14 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386, PMID:32581362 NCBI chr 8:96,018,943...96,088,405
Ensembl chr 8:96,023,445...96,088,405
JBrowse link
G Sparcl1 SPARC like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18488994 NCBI chr14:6,994,261...7,025,309
Ensembl chr14:6,994,190...7,025,308
JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 6:22,230,067...22,282,166
Ensembl chr 6:22,230,928...22,281,886
JBrowse link
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Epilepsy
ClinVar Annotator: match by term: Seizures
ClinVar Annotator: match by term: Seizure Disorders
ClinVar PMID:18414213, PMID:20228407, PMID:22258530, PMID:25224718, PMID:25741868, PMID:26467025, PMID:26539891, PMID:28492532, PMID:29358611, PMID:30311386 NCBI chr 3:8,534,437...8,599,259
Ensembl chr 3:8,534,440...8,599,260
JBrowse link
G St3gal5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:28492532 NCBI chr 4:99,937,499...99,999,905
Ensembl chr 4:99,937,558...99,999,902
JBrowse link
G Stambp Stam binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23542699 NCBI chr 4:115,249,343...115,277,340
Ensembl chr 4:115,249,351...115,275,068
JBrowse link
G Strada STE20 related adaptor alpha ISO ClinVar Annotator: match by term: Seizure Disorders ClinVar NCBI chr10:94,355,369...94,384,404
Ensembl chr10:94,355,384...94,384,339
JBrowse link
G Stx1b syntaxin 1B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epilepsy
ClinVar Annotator: match by term: Seizures
CTD
ClinVar
PMID:25362483, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr 1:199,251,842...199,270,465
Ensembl chr 1:199,251,844...199,270,627
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Seizures
CTD
ClinVar
PMID:24189369, PMID:25418441, PMID:25741868, PMID:28133863, PMID:28492532, PMID:29942082 NCBI chr 3:11,823,779...11,885,479
Ensembl chr 3:11,823,785...11,885,417
JBrowse link
G Syn1 synapsin I ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868, PMID:30311386 NCBI chr  X:1,321,315...1,379,202
Ensembl chr  X:1,321,315...1,379,198
JBrowse link
G Syn2 synapsin II ISS MouseDO NCBI chr 4:147,037,179...147,195,096
Ensembl chr 4:147,037,179...147,195,096
JBrowse link
G Syne2 spectrin repeat containing nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr 6:98,884,269...99,153,551 JBrowse link
G Syngap1 synaptic Ras GTPase activating protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Seizures
CTD
ClinVar
PMID:23708187, PMID:25741868, PMID:29942082 NCBI chr20:5,535,434...5,564,657
Ensembl chr20:5,535,432...5,564,437
JBrowse link
G Synj1 synaptojanin 1 ISO ClinVar Annotator: match by term: Epilepsy ClinVar PMID:28492532, PMID:30311386 NCBI chr11:31,105,784...31,181,573
Ensembl chr11:31,104,787...31,180,642
JBrowse link
G Szt2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868, PMID:26467025, PMID:28491533, PMID:28492532, PMID:28556953, PMID:29358611, PMID:30311386 NCBI chr 5:137,192,120...137,238,384
Ensembl chr 5:137,190,875...137,238,354
JBrowse link
G Tacr3 tachykinin receptor 3 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:18422838, PMID:22031817, PMID:23329188, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 2:240,021,152...240,118,971
Ensembl chr 2:240,021,152...240,118,971
JBrowse link
G Tanc2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 ISO ClinVar Annotator: match by term: Epilepsy ClinVar PMID:31616000 NCBI chr10:93,811,350...94,132,418
Ensembl chr10:93,811,350...94,127,697
JBrowse link
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: Epilepsy ClinVar PMID:25741868, PMID:26805781, PMID:29369572 NCBI chr11:86,793,959...86,840,556
Ensembl chr11:86,797,557...86,840,573
JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Epilepsy
ClinVar Annotator: match by term: Seizures
ClinVar PMID:10574461, PMID:18414213, PMID:22277662, PMID:24033266, PMID:24291220, PMID:24387994, PMID:24848745, PMID:25741868, PMID:25769375, PMID:26371875, PMID:26467025, PMID:27259978, PMID:27281533, PMID:28292732, PMID:28301460, PMID:28428906, PMID:28492532, PMID:29358611, PMID:29671961, PMID:30311386 NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
JBrowse link
G Tbl1xr1 TBL1X receptor 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 2:107,221,913...107,359,229
Ensembl chr 2:107,233,054...107,359,229
JBrowse link
G Tbr1 T-box brain transcription factor 1 ISO ClinVar Annotator: match by term: Epilepsy ClinVar PMID:25741868 NCBI chr 3:47,677,720...47,685,902
Ensembl chr 3:47,677,720...47,685,902
JBrowse link
G Tcfl5 transcription factor like 5 ISO ClinVar Annotator: match by term: Epilepsy ClinVar PMID:25741868 NCBI chr 3:176,124,846...176,144,531
Ensembl chr 3:176,125,482...176,144,531
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29483653 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Th tyrosine hydroxylase IEP
ISO
protein:decreased activity:cerebral cortex (rat)
ClinVar Annotator: match by term: Seizures
ClinVar PMID:2019643, PMID:8817341, PMID:10407773, PMID:12891655, PMID:19282209, PMID:20198643, PMID:20430833, PMID:23480488, PMID:24753243, PMID:28492532, PMID:30311386, PMID:19605093 RGD:5128800 NCBI chr 1:216,073,034...216,080,287
Ensembl chr 1:216,073,031...216,080,287
JBrowse link
G Tnf tumor necrosis factor IEP protein:increased expression:brain,plasma RGD PMID:28303499 RGD:13524859 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:17464555, PMID:20652909, PMID:25741868, PMID:28492532 NCBI chr10:47,399,834...47,422,907
Ensembl chr10:47,412,582...47,420,951
JBrowse link
G Tpp1 tripeptidyl peptidase 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:10330339, PMID:18414213, PMID:19038966, PMID:21990111, PMID:22752289, PMID:22832778, PMID:23266810, PMID:24033266, PMID:24091540, PMID:24767253, PMID:25741868, PMID:26467025, PMID:27776828, PMID:28492532, PMID:28717666 NCBI chr 1:170,588,036...170,594,159
Ensembl chr 1:170,588,035...170,594,168
JBrowse link
G Trim8 tripartite motif-containing 8 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 1:266,255,797...266,270,694
Ensembl chr 1:266,255,797...266,270,694
JBrowse link
G Trio trio Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 2:80,471,398...80,769,313
Ensembl chr 2:80,473,202...80,667,481
JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Epilepsy ClinVar PMID:25741868, PMID:28492532 NCBI chr 1:101,293,300...101,323,484
Ensembl chr 1:101,293,409...101,323,960
JBrowse link
G Tsc1 TSC complex subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Seizures
CTD
ClinVar
PMID:9242607, PMID:9328481, PMID:9803264, PMID:9863590, PMID:9924605, PMID:10227394, PMID:10363127, PMID:10533067, PMID:11112665, PMID:12015165, PMID:12112044, PMID:14756965, PMID:15798777, PMID:16981987, PMID:17304050, PMID:18032745, PMID:21062901, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29286531, PMID:30311386, PMID:32238909 NCBI chr 3:7,219,955...7,269,063
Ensembl chr 3:7,237,192...7,265,145
JBrowse link
G Tsc2 TSC complex subunit 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Seizures
ClinVar Annotator: match by term: Epilepsy
CTD
ClinVar
PMID:17304050, PMID:21062901, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
JBrowse link
G Tshr thyroid stimulating hormone receptor ISO ClinVar Annotator: match by term: Epilepsy ClinVar PMID:8964822, PMID:12050212, PMID:30311386 NCBI chr 6:115,170,290...115,306,871
Ensembl chr 6:115,170,865...115,306,871
JBrowse link
G Ttc3 tetratricopeptide repeat domain 3 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr11:34,598,324...34,739,986
Ensembl chr11:34,598,492...34,738,791
JBrowse link
G Tulp1 TUB like protein 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr20:7,931,673...7,943,601
Ensembl chr20:7,931,674...7,943,575
JBrowse link
G Tusc3 tumor suppressor candidate 3 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:23806237, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr16:56,248,125...56,396,491
Ensembl chr16:56,247,659...56,396,502
JBrowse link
G Txnrd1 thioredoxin reductase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19499324 NCBI chr 7:26,946,124...26,984,400
Ensembl chr 7:26,946,125...26,984,400
JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:10852545, PMID:12529715, PMID:19853446, PMID:24033266, PMID:25741868, PMID:30311386 NCBI chr 7:130,342,481...130,347,845
Ensembl chr 7:130,342,483...130,347,587
JBrowse link
G Uba1 ubiquitin-like modifier activating enzyme 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr  X:1,723,135...1,745,147
Ensembl chr  X:1,723,174...1,741,701
JBrowse link
G Ube3a ubiquitin protein ligase E3A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15878204 NCBI chr 1:116,586,901...116,678,161
Ensembl chr 1:116,587,815...116,679,973
JBrowse link
G Ube4a ubiquitination factor E4A ISO ClinVar Annotator: match by term: Epilepsy ClinVar NCBI chr 8:49,229,713...49,271,894
Ensembl chr 8:49,229,717...49,271,834
JBrowse link
G Ufm1 ubiquitin-fold modifier 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868, PMID:28931644, PMID:30311386, PMID:32860008 NCBI chr 2:143,096,268...143,104,412
Ensembl chr 2:143,096,271...143,104,412
JBrowse link
G Urb2 URB2 ribosome biogenesis homolog ISO ClinVar Annotator: match by term: Epilepsy ClinVar PMID:25741868 NCBI chr19:56,802,843...56,827,017
Ensembl chr19:56,803,382...56,826,960
JBrowse link
G Usp9x ubiquitin specific peptidase 9, X-linked ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr  X:10,510,033...10,660,555
Ensembl chr  X:10,510,033...10,630,297
JBrowse link
G Vdac1 voltage-dependent anion channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17893921 NCBI chr10:37,724,915...37,752,827
Ensembl chr10:37,724,915...37,752,826
JBrowse link
G Vdac2 voltage-dependent anion channel 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17893921 NCBI chr15:2,634,622...2,648,548
Ensembl chr15:2,634,624...2,648,551
JBrowse link
G Vps26c VPS26 endosomal protein sorting factor C ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr11:34,764,053...34,792,446
Ensembl chr11:34,764,721...34,791,993
JBrowse link
G Wdr37 WD repeat domain 37 ISO ClinVar Annotator: match by term: Seizure Disorders ClinVar PMID:31327508, PMID:31327510, PMID:31474318 NCBI chr17:57,983,937...58,051,011
Ensembl chr17:57,983,937...58,050,992
JBrowse link
G Wdr45 WD repeat domain 45 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29942082 NCBI chr  X:15,621,249...15,627,159
Ensembl chr  X:15,621,209...15,627,235
JBrowse link
G Wdr62 WD repeat domain 62 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 1:90,995,545...91,034,592
Ensembl chr 1:88,694,824...88,734,223
JBrowse link
G Wdr73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:32581362 NCBI chr 1:142,711,955...142,720,292
Ensembl chr 1:142,711,789...142,720,257
JBrowse link
G Wfikkn1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 ISO ClinVar Annotator: match by term: Epilepsy ClinVar PMID:28492532 NCBI chr10:15,243,429...15,245,757
Ensembl chr10:15,243,429...15,245,757
JBrowse link
G Wwox WW domain-containing oxidoreductase ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr19:46,761,353...47,695,247 JBrowse link
G Xpr1 xenotropic and polytropic retrovirus receptor 1 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr13:72,918,552...73,056,785
Ensembl chr13:72,918,490...73,056,875
JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr 3:29,857,289...29,985,932
Ensembl chr 3:29,862,473...29,996,865
JBrowse link
G Zfp142 zinc finger protein 142 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 9:81,844,138...81,868,086
Ensembl chr 9:81,844,138...81,868,086
JBrowse link
G Zfp292 zinc finger protein 292 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 5:50,282,084...50,362,344
Ensembl chr 5:50,282,084...50,362,344
JBrowse link
G Zfp462 zinc finger protein 462 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 5:71,679,841...71,824,077
Ensembl chr 5:71,742,911...71,823,139
JBrowse link
G Zswim6 zinc finger, SWIM-type containing 6 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 2:38,978,042...39,042,886
Ensembl chr 2:38,979,865...39,007,976
JBrowse link
absence epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Absence seizures ClinVar PMID:30311386 NCBI chr 1:134,757,934...134,873,053
Ensembl chr 1:134,757,934...134,871,167
JBrowse link
G Reln reelin ISO ClinVar Annotator: match by term: Absence seizures ClinVar PMID:28492532, PMID:30311386 NCBI chr 4:9,347,533...9,774,257
Ensembl chr 4:9,347,528...9,773,670
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Absence seizures ClinVar PMID:11254445, PMID:18021921, PMID:21396429, PMID:22550089, PMID:22780858, PMID:23398611, PMID:25741868, PMID:26990884, PMID:28492532, PMID:29358611, PMID:30311386 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Absence seizures ClinVar PMID:25741868 NCBI chr 3:52,583,953...52,664,209
Ensembl chr 3:52,583,951...52,664,209
JBrowse link
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO ClinVar Annotator: match by term: AICA-RIBOSURIA DUE TO ATIC DEFICIENCY
ClinVar Annotator: match by term: AICAR transformylase/IMP cyclohydrolase deficiency
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:15114530, PMID:25741868, PMID:32557644 NCBI chr 9:78,862,013...78,882,061
Ensembl chr 9:78,862,013...78,882,060
JBrowse link
Alcohol Withdrawal Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc29a1 solute carrier family 29 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21283641 NCBI chr 9:17,784,468...17,799,008
Ensembl chr 9:17,784,468...17,799,005
JBrowse link
G Slc6a3 solute carrier family 6 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27219321 NCBI chr 1:32,323,011...32,363,983
Ensembl chr 1:32,321,580...32,363,983
JBrowse link
Arthrogryposis, Mental Retardation, and Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc35a3 solute carrier family 35 member A3 ISO ClinVar Annotator: match by term: Arthrogryposis, mental retardation, and seizures
ClinVar Annotator: match by OMIM:615553
OMIM
ClinVar
PMID:24031089, PMID:25741868, PMID:28492532, PMID:28777481 NCBI chr 2:219,705,618...219,741,886
Ensembl chr 2:219,705,620...219,741,886
JBrowse link
autosomal dominant mental retardation 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mef2c myocyte enhancer factor 2C ISO ClinVar Annotator: match by term: Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
ClinVar Annotator: match by OMIM:613443
OMIM
ClinVar
PMID:7679508, PMID:18414213, PMID:19592390, PMID:19876902, PMID:20333642, PMID:20513142, PMID:22031302, PMID:23001426, PMID:24088041, PMID:25741868, PMID:25741869, PMID:26633545, PMID:27255693, PMID:27748065, PMID:28492532, PMID:28554332, PMID:29706646, PMID:30376817 NCBI chr 2:11,658,534...11,822,788
Ensembl chr 2:11,658,568...11,822,787
JBrowse link
Autosomal Dominant Mental Retardation 60 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap2m1 adaptor related protein complex 2 subunit mu 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER 60 WITH SEIZURES OMIM
ClinVar
PMID:25741868, PMID:31104773 NCBI chr11:84,041,184...84,047,542
Ensembl chr11:84,041,184...84,047,546
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 3:176,985,900...176,987,797
Ensembl chr 3:176,985,900...176,987,796
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 3:176,857,667...176,865,105
Ensembl chr 3:176,859,151...176,865,103
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:18414213, PMID:24950454, PMID:25741868, PMID:25847220, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr15:42,808,897...42,825,179
Ensembl chr15:42,808,897...42,825,179
JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:7476881, PMID:7550350, PMID:7647781, PMID:7895015, PMID:8696332, PMID:8833159, PMID:9339675, PMID:10448807, PMID:10563623, PMID:10643924, PMID:10939581, PMID:10964949, PMID:11904236, PMID:12887446, PMID:14623738, PMID:18414213, PMID:18479385, PMID:18685138, PMID:19020039, PMID:19058950, PMID:19237585, PMID:19628474, PMID:19628475, PMID:20016990, PMID:21107856, PMID:21683344, PMID:21753767, PMID:22036597, PMID:22118295, PMID:22873564, PMID:22883468, PMID:24385388, PMID:25741868, PMID:25921748, PMID:26467025, PMID:26561946, PMID:28492532, PMID:29454195, PMID:29590070 NCBI chr 3:176,533,182...176,547,965
Ensembl chr 3:176,527,516...176,548,208
JBrowse link
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:11062464, PMID:11104662, PMID:11906688, PMID:17900292, PMID:18414213, PMID:18456869, PMID:20736995, PMID:21703448, PMID:22036597, PMID:25741868, PMID:26467025, PMID:28492532, PMID:11104662 RGD:737782 NCBI chr 2:189,088,570...189,096,785
Ensembl chr 2:189,088,570...189,096,785
JBrowse link
G Crh corticotropin releasing hormone ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:16222669, PMID:23593457, PMID:24395520 NCBI chr 2:104,459,999...104,461,863
Ensembl chr 2:104,459,999...104,461,863
JBrowse link
G Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:25741868 NCBI chr14:83,089,000...83,219,576
Ensembl chr14:83,089,000...83,219,464
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 3:177,012,714...177,047,787
Ensembl chr 3:177,013,604...177,043,902
JBrowse link
G Eef1a2 eukaryotic translation elongation factor 1 alpha 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:25921748, PMID:28492532 NCBI chr 3:176,657,104...176,666,282
Ensembl chr 3:176,657,107...176,666,282
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 3:176,721,100...176,724,736
Ensembl chr 3:176,721,827...176,725,837
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 3:176,756,006...176,791,960
Ensembl chr 3:176,753,860...176,791,960
JBrowse link
G Helz2 helicase with zinc finger 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:25921748, PMID:28492532 NCBI chr 3:176,730,024...176,744,382
Ensembl chr 3:176,731,769...176,744,377
JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:25921748, PMID:28492532 NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
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 3:176,881,881...176,888,230
Ensembl chr 3:176,882,027...176,884,350
JBrowse link
G Oplah 5-oxoprolinase (ATP-hydrolysing) ISO ClinVar Annotator: match by term: Nocturnal frontal lobe epilepsy ClinVar PMID:25741868 NCBI chr 7:117,353,951...117,394,205
Ensembl chr 7:117,353,786...117,369,159
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:25921748, PMID:28492532 NCBI chr 3:176,690,507...176,692,272
Ensembl chr 3:176,691,329...176,692,271
JBrowse link
G Prima1 proline rich membrane anchor 1 ISO ClinVar Annotator: match by term: Nocturnal frontal lobe epilepsy ClinVar PMID:26467025, PMID:28492532 NCBI chr 6:127,075,954...127,127,985
Ensembl chr 6:127,075,954...127,127,413
JBrowse link
G Ptk6 protein tyrosine kinase 6 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:25921748, PMID:28492532 NCBI chr 3:176,698,305...176,706,896
Ensembl chr 3:176,698,305...176,706,896
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 3:176,818,012...176,856,531
Ensembl chr 3:176,818,437...176,856,531
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Autosomal dominant epilepsy ClinVar PMID:10486327, PMID:10742094, PMID:11118488, PMID:12086636, PMID:14702334, PMID:14738421, PMID:18930999, PMID:20100831, PMID:20522430, PMID:21844054, PMID:21864321, PMID:23195492, PMID:24277604, PMID:25378155, PMID:25741868, PMID:27267376, PMID:28150151, PMID:28492532, PMID:28842445, PMID:29655203, PMID:29760947, PMID:30525188, PMID:30659983 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
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 3:176,709,742...176,716,146
Ensembl chr 3:176,709,743...176,716,146
JBrowse link
G Stmn3 stathmin 3 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:25921748, PMID:28492532 NCBI chr 3:176,808,016...176,816,108
Ensembl chr 3:176,808,017...176,816,162
JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Autosomal dominant epilepsy ClinVar PMID:27541164, PMID:28492532 NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
JBrowse link
G Tpd52l2 TPD52 like 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:25921748, PMID:28492532 NCBI chr 3:176,989,333...177,009,425
Ensembl chr 3:176,989,672...177,008,419
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 3:176,888,502...176,959,009
Ensembl chr 3:176,890,806...176,958,880
JBrowse link
G Zgpat zinc finger CCCH-type and G-patch domain containing ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:25921748, PMID:28492532 NCBI chr 3:176,865,078...176,881,603
Ensembl chr 3:176,865,156...176,881,549
JBrowse link
autosomal dominant nocturnal frontal lobe epilepsy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, type 1
ClinVar Annotator: match by OMIM:600513
OMIM
ClinVar
PMID:7476881, PMID:7550350, PMID:7647781, PMID:7806245, PMID:8696332, PMID:8833159, PMID:9339675, PMID:10448807, PMID:10563623, PMID:10643924, PMID:10939581, PMID:11904236, PMID:12887446, PMID:14623738, PMID:18685138, PMID:19020039, PMID:19237585, PMID:19628475, PMID:20016990, PMID:21107856, PMID:21753767, PMID:22036597, PMID:22118295, PMID:22873564, PMID:22883468, PMID:24385388, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29590070 NCBI chr 3:176,533,182...176,547,965
Ensembl chr 3:176,527,516...176,548,208
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 ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, type 3 OMIM
ClinVar
PMID:11062464, PMID:11094099, PMID:11104662, PMID:11906688, PMID:17900292, PMID:18414213, PMID:18456869, PMID:20736995, PMID:21703448, PMID:22036597, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 2:189,088,570...189,096,785
Ensembl chr 2:189,088,570...189,096,785
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: Seizures, benign familial infantile, 6
ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, type 4
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:610353
OMIM
ClinVar
CTD
PMID:16826524, PMID:18414213, PMID:19383498, PMID:24950454, PMID:25741868, PMID:25770198, PMID:25847220, PMID:26467025, PMID:28492532 NCBI chr15:42,808,897...42,825,179
Ensembl chr15:42,808,897...42,825,179
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 Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5
ClinVar Annotator: match by OMIM:615005
OMIM
ClinVar
PMID:7895015, PMID:18414213, PMID:18479385, PMID:23086396, PMID:23086397, PMID:23599387, PMID:24463883, PMID:24591078, PMID:25042079, PMID:25326635, PMID:25326637, PMID:25339316, PMID:25482562, PMID:25590979, PMID:25741868, PMID:25985138, PMID:26122718, PMID:26140313, PMID:26269628, PMID:26369628, PMID:26467025, PMID:26648591, PMID:26740507, PMID:27064559, PMID:27652284, PMID:27779742, PMID:28492532, PMID:29186148 NCBI chr 3:3,310,641...3,366,558
Ensembl chr 3:3,310,954...3,365,340
JBrowse link
G Spag1 sperm associated antigen 1 ISO ClinVar Annotator: match by This custom term has been created by RGD curators.
ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5
ClinVar PMID:24055112, PMID:25741868, PMID:26228299, PMID:27637300, PMID:28492532 NCBI chr 7:74,994,379...75,054,294
Ensembl chr 7:74,994,605...75,054,293
JBrowse link
autosomal dominant non-syndromic intellectual disability 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apold1 apolipoprotein L domain containing 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 6 ClinVar PMID:23918416, PMID:27656287, PMID:28492532, PMID:28503605 NCBI chr 4:168,752,142...168,755,024
Ensembl chr 4:168,752,133...168,755,023
JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 6 ClinVar PMID:23918416, PMID:27656287, PMID:28492532, PMID:28503605 NCBI chr 4:168,689,043...168,694,159
Ensembl chr 4:168,689,163...168,693,964
JBrowse link
G Ddx47 DEAD-box helicase 47 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 6 ClinVar PMID:23918416, PMID:27656287, PMID:28492532, PMID:28503605 NCBI chr 4:168,775,134...168,787,594
Ensembl chr 4:168,775,111...168,787,730
JBrowse link
G Emp1 epithelial membrane protein 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 6 ClinVar PMID:23918416, PMID:27656287, PMID:28492532, PMID:28503605 NCBI chr 4:169,161,076...169,181,967
Ensembl chr 4:169,147,243...169,181,966
JBrowse link
G Fam234b family with sequence similarity 234, member B ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 6 ClinVar PMID:23918416, PMID:27656287, PMID:28492532, PMID:28503605 NCBI chr 4:168,976,797...169,052,750
Ensembl chr 4:168,976,859...169,019,561
JBrowse link
G Gprc5a G protein-coupled receptor, class C, group 5, member A ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 6 ClinVar PMID:23918416, PMID:27656287, PMID:28492532, PMID:28503605 NCBI chr 4:168,832,937...168,851,650
Ensembl chr 4:168,832,910...168,851,652
JBrowse link
G Gprc5d G protein-coupled receptor, class C, group 5, member D ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 6 ClinVar PMID:23918416, PMID:27656287, PMID:28492532, PMID:28503605 NCBI chr 4:168,872,897...168,884,925
Ensembl chr 4:168,872,897...168,884,886
JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 6
ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES
ClinVar Annotator: match by OMIM:613970
OMIM
ClinVar
PMID:16537520, PMID:17357078, PMID:18414213, PMID:20890276, PMID:21572417, PMID:22796429, PMID:22833210, PMID:23033978, PMID:23160955, PMID:23408766, PMID:23718928, PMID:23918416, PMID:23933819, PMID:23933820, PMID:23934111, PMID:24126926, PMID:24267886, PMID:24272827, PMID:24999380, PMID:25326635, PMID:25326637, PMID:25356899, PMID:25741868, PMID:25741869, PMID:26350515, PMID:26467025, PMID:27572814, PMID:27605359, PMID:27616045, PMID:27656287, PMID:27818011, PMID:27839871, PMID:28283559, PMID:28377535, PMID:28440294, PMID:28492532, PMID:28503605, PMID:28554332, PMID:28708303, PMID:28856709 NCBI chr 4:169,541,620...170,000,216
Ensembl chr 4:169,560,387...169,999,873
JBrowse link