Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  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:focal epilepsy
go back to main search page
Accession:DOID:2234 term browser browse the term
Definition:An epilepsy syndrome that is characterised by seizures that are preceded by an isolated disturbance of a cerebral function and arise from an epileptic focus, a small portion of the brain that serves as the irritant driving the epileptic response. (DO)
Synonyms:exact_synonym: Abdominal Epilepsy;   Amygdalo-Hippocampal Epilepsies;   Amygdalo-Hippocampal Epilepsy;   Benign Occipital Epilepsies;   Benign Occipital Epilepsy;   Childhood Benign Focal Epilepsy;   Childhood Benign Occipital Epilepsy;   Digestive Epilepsies;   Digestive Epilepsy;   Epilepsies, Partial;   Focal Epilepsies;   Focal Seizure Disorder;   Focal Seizure Disorders;   Gelastic Epilepsies;   Gelastic Epilepsy;   Localization-Related Epilepsies;   Localization-Related Epilepsy;   Occipital Lobe Epilepsies;   Occipital Lobe Epilepsy;   Partial Epilepsy;   Partial Seizure Disorder;   Partial Seizure Disorders;   Partial Seizures, Simple, Consciousness Preserved;   Rhinencephalic Epilepsies;   Rhinencephalic Epilepsy;   Seizure, Uncinate;   Subclinical Seizure;   Subclinical Seizures;   abdominal epilepsies;   localisation-related epilepsy;   uncinate seizures
 narrow_synonym: FOCAL SEIZURES WITH IMPAIRMENT OF CONSCIOUSNESS OR AWARENESS
 primary_id: MESH:D004828
 xref: NCI:C122812;   OMIM:PS604364
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
focal epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bdnf brain-derived neurotrophic factor ISO GAD PMID:15118671 RGD:1331525 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Focal seizures with impairment of consciousness or awareness ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:205,731,814...205,743,430
Ensembl chr 1:205,733,872...205,743,421
JBrowse link
G Cacna1h calcium voltage-gated channel subunit alpha1 H ISO ClinVar Annotator: match by term: Focal epilepsy ClinVar PMID:25741868 NCBI chr10:14,390,104...14,448,204
Ensembl chr10:14,390,113...14,448,376
JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Focal epilepsy ClinVar PMID:25741868 NCBI chr  X:33,757,605...33,988,075
Ensembl chr  X:33,821,257...33,986,582
JBrowse link
G Cnr1 cannabinoid receptor 1 IMP RGD PMID:19595742 RGD:2314658 NCBI chr 5:48,408,543...48,436,099
Ensembl chr 5:48,408,574...48,435,099
JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Focal seizures with impairment of consciousness or awareness ClinVar PMID:25485910 PMID:25741868 PMID:27108799 PMID:32134617 NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: partial epilepsy ClinVar PMID:23933819 PMID:23933820 PMID:25164438 PMID:25741868 PMID:26467025 More... NCBI chr10:5,630,684...6,043,341
Ensembl chr10:5,631,369...6,044,637
JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Focal epilepsy
CTD
ClinVar
PMID:18414213 PMID:23086397 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:8,682,964...8,736,615
Ensembl chr 3:8,682,113...8,736,667
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Focal epilepsy ClinVar PMID:25741868 NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689
JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP RGD PMID:20303372 RGD:8547934 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Prickle1 prickle planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Focal seizures with impairment of consciousness or awareness ClinVar NCBI chr 7:124,639,142...124,735,027
Ensembl chr 7:124,639,142...124,658,113
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Focal epilepsy | ClinVar Annotator: match by term: Focal seizures with impairment of consciousness or awareness ClinVar PMID:12566275 PMID:14672992 PMID:16199547 PMID:17347258 PMID:17903680 More... NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Focal epilepsy ClinVar PMID:25741868 NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214
JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Focal epilepsy | ClinVar Annotator: match by term: Focal seizures with impairment of consciousness or awareness ClinVar PMID:18414213 PMID:25741868 PMID:27210545 PMID:28492532 NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292
JBrowse link
G Snap25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: Focal epilepsy ClinVar PMID:25741868 PMID:33299146 NCBI chr 3:124,041,898...124,123,761
Ensembl chr 3:124,041,898...124,123,760
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 3:168,594,677...168,596,574
Ensembl chr 3:168,594,609...168,619,762
JBrowse link
G Arfgap1 ADP-ribosylation factor GTPase activating protein 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:168,084,560...168,099,948
Ensembl chr 3:168,084,614...168,099,933
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 3:168,466,351...168,473,960
Ensembl chr 3:168,466,496...168,473,914
JBrowse link
G Bhlhe23 basic helix-loop-helix family, member e23 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:167,889,009...167,891,223
Ensembl chr 3:167,889,009...167,891,223
JBrowse link
G Birc7 baculoviral IAP repeat-containing 7 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:168,047,824...168,052,606
Ensembl chr 3:168,047,824...168,052,606
JBrowse link
G Chrna2 cholinergic receptor nicotinic alpha 2 subunit ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy | ClinVar Annotator: match by term: Nocturnal frontal lobe epilepsy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:24950454 More... NCBI chr15:40,342,317...40,358,601
Ensembl chr15:40,342,317...40,358,601
JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy | ClinVar Annotator: match by term: Nocturnal frontal lobe epilepsy ClinVar PMID:7476881 PMID:7550350 PMID:7647781 PMID:8696332 PMID:8833159 More... NCBI chr 3:168,136,246...168,157,839
Ensembl chr 3:168,136,266...168,156,957
JBrowse link
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar
RGD
PMID:9536098 PMID:11062464 PMID:11104662 PMID:11906688 PMID:17576681 More... RGD:737782 NCBI chr 2:175,181,402...175,189,619
Ensembl chr 2:175,181,402...175,189,619
JBrowse link
G Col20a1 collagen type XX alpha 1 chain ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:168,102,475...168,134,759
Ensembl chr 3:168,084,560...168,135,309
JBrowse link
G Col9a3 collagen type IX alpha 3 chain ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:167,711,776...167,734,468
Ensembl chr 3:167,711,840...167,734,465
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 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919
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 chr14:77,732,297...77,862,924
Ensembl chr14:77,732,297...77,862,794
JBrowse link
G Dido1 death inducer-obliterator 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:167,772,535...167,825,894
Ensembl chr 3:167,772,770...167,817,218
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 3:168,621,905...168,656,570
Ensembl chr 3:168,621,969...168,655,935
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:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 More... NCBI chr 3:168,265,893...168,275,071
Ensembl chr 3:168,195,357...168,275,071
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 3:168,330,607...168,333,111
Ensembl chr 3:168,330,602...168,334,617
JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:25741868 PMID:28492532 PMID:33391346 NCBI chr10:26,376,805...26,463,680
Ensembl chr10:26,374,694...26,464,346
JBrowse link
G Gid8 GID complex subunit 8 homolog ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:167,826,006...167,836,759
Ensembl chr 3:167,826,060...167,834,814
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 3:168,362,650...168,400,788
Ensembl chr 3:168,362,650...168,400,788
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 3:168,338,813...168,353,219
Ensembl chr 3:168,338,813...168,353,159
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:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 More... NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
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 3:168,490,535...168,496,627
Ensembl chr 3:168,490,074...168,493,127
JBrowse link
G Nkain4 Sodium/potassium transporting ATPase interacting 4 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:168,053,294...168,073,944
Ensembl chr 3:168,053,066...168,073,925
JBrowse link
G Oplah 5-oxoprolinase (ATP-hydrolysing) ISO ClinVar Annotator: match by term: Nocturnal frontal lobe epilepsy ClinVar PMID:25741868 NCBI chr 7:108,011,472...108,051,751
Ensembl chr 7:108,011,475...108,035,297
JBrowse link
G Ppdpf pancreatic progenitor cell differentiation and proliferation factor ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 More... NCBI chr 3:168,299,309...168,301,040
Ensembl chr 3:168,299,791...168,301,036
JBrowse link
G Prima1 proline rich membrane anchor 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy | ClinVar Annotator: match by term: Nocturnal frontal lobe epilepsy ClinVar PMID:9536098 PMID:17576681 PMID:26467025 PMID:28492532 NCBI chr 6:122,338,365...122,390,955
Ensembl chr 6:122,338,370...122,389,921
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 3:168,307,073...168,315,664
Ensembl chr 3:168,307,073...168,315,664
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 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:10486327 PMID:10742094 PMID:11118488 PMID:11940708 PMID:12083760 More... NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
JBrowse link
G Slc17a9 solute carrier family 17 member 9 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:167,839,246...167,857,462
Ensembl chr 3:167,839,385...167,855,985
JBrowse link
G Slc2a4rg SLC2A4 regulator ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:25921748 PMID:28492532 NCBI chr 3:168,493,975...168,497,616 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 3:168,318,511...168,324,915
Ensembl chr 3:168,318,512...168,324,915
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 3:168,416,810...168,424,946
Ensembl chr 3:168,416,810...168,425,056
JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Autosomal dominant epilepsy ClinVar PMID:27541164 PMID:28492532 PMID:28663785 PMID:31112829 NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050
JBrowse link
G Tcfl5 transcription factor like 5 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:167,734,471...167,754,174
Ensembl chr 3:167,734,473...167,754,282
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 3:168,598,449...168,618,201
Ensembl chr 3:168,594,609...168,619,762
JBrowse link
G Ythdf1 YTH N(6)-methyladenosine RNA binding protein 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:168,024,660...168,040,172
Ensembl chr 3:168,024,663...168,040,172
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 3:168,497,294...168,567,799
Ensembl chr 3:168,499,583...168,568,782
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 3:168,473,836...168,490,380
Ensembl chr 3:168,473,981...168,490,380
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: Autosomal dominant nocturnal frontal lobe epilepsy 1 OMIM
ClinVar
PMID:7476881 PMID:7550350 PMID:7647781 PMID:7806245 PMID:8696332 More... NCBI chr 3:168,136,246...168,157,839
Ensembl chr 3:168,136,266...168,156,957
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: Autosomal dominant nocturnal frontal lobe epilepsy 3 OMIM
ClinVar
PMID:9536098 PMID:11062464 PMID:11094099 PMID:11104662 PMID:11906688 More... NCBI chr 2:175,181,402...175,189,619
Ensembl chr 2:175,181,402...175,189,619
JBrowse link
autosomal dominant nocturnal frontal lobe epilepsy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna2 cholinergic receptor nicotinic alpha 2 subunit ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 4 | ClinVar Annotator: match by term: Seizures, benign familial infantile, 6
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:16826524 PMID:18414213 PMID:19383498 PMID:24950454 PMID:25741868 More... NCBI chr15:40,342,317...40,358,601
Ensembl chr15:40,342,317...40,358,601
JBrowse link
autosomal dominant nocturnal frontal lobe epilepsy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca2 ATP binding cassette subfamily A member 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,244,515...8,264,545
Ensembl chr 3:8,244,639...8,264,537
JBrowse link
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:9,416,842...9,428,567
Ensembl chr 3:9,416,843...9,428,371
JBrowse link
G Ajm1 apical junction component 1 homolog ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,394,942...8,401,559
Ensembl chr 3:8,392,889...8,401,321
JBrowse link
G Anapc2 anaphase promoting complex subunit 2 ISO ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,086,434...8,098,182
Ensembl chr 3:8,086,462...8,098,178
JBrowse link
G Arrdc1 arrestin domain containing 1 ISO ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:7,735,002...7,742,195
Ensembl chr 3:7,735,011...7,742,197
JBrowse link
G C8g complement C8 gamma chain ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,320,495...8,323,495
Ensembl chr 3:8,305,920...8,323,495
JBrowse link
G Camsap1 calmodulin regulated spectrin-associated protein 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,746,176...8,806,072
Ensembl chr 3:8,746,176...8,806,072
JBrowse link
G Card9 caspase recruitment domain family, member 9 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:9,171,814...9,180,310
Ensembl chr 3:9,171,815...9,180,237
JBrowse link
G Ccdc183 coiled-coil domain containing 183 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,428,784...8,438,948
Ensembl chr 3:8,428,787...8,437,194
JBrowse link
G Clic3 chloride intracellular channel 3 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,271,416...8,274,023
Ensembl chr 3:8,272,097...8,274,018
JBrowse link
G Cysrt1 cysteine rich tail 1 ISO ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,054,195...8,057,846
Ensembl chr 3:8,053,482...8,059,721
JBrowse link
G Dipk1b divergent protein kinase domain 1B ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:9,455,914...9,464,169
Ensembl chr 3:9,456,409...9,464,161
JBrowse link
G Dnlz DNL-type zinc finger ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:9,169,948...9,171,881
Ensembl chr 3:9,169,793...9,180,551
JBrowse link
G Dph7 diphthamide biosynthesis 7 ISO ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:7,770,385...7,778,994
Ensembl chr 3:7,770,379...7,778,982
JBrowse link
G Dpp7 dipeptidylpeptidase 7 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,165,091...8,169,343
Ensembl chr 3:8,165,091...8,169,355
JBrowse link
G Edf1 endothelial differentiation-related factor 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,377,058...8,381,363
Ensembl chr 3:8,366,613...8,381,363
JBrowse link
G Egfl7 EGF-like-domain, multiple 7 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:9,404,622...9,416,879
Ensembl chr 3:9,407,520...9,416,879
JBrowse link
G Ehmt1 euchromatic histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:7,580,680...7,729,046
Ensembl chr 3:7,580,683...7,729,007
JBrowse link
G Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,213,575...8,219,094
Ensembl chr 3:8,213,663...8,226,866
JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:7,885,277...7,895,517
Ensembl chr 3:7,889,909...7,895,296
JBrowse link
G Entr1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:9,200,967...9,207,688
Ensembl chr 3:9,200,967...9,207,688
JBrowse link
G Fam166a family with sequence similarity 166, member A ISO ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,030,548...8,038,370
Ensembl chr 3:8,033,246...8,037,961
JBrowse link
G Fbxw5 F-box and WD repeat domain containing 5 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,322,543...8,327,092
Ensembl chr 3:8,322,543...8,327,092
JBrowse link
G Fut7 fucosyltransferase 7 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,237,687...8,242,273
Ensembl chr 3:8,239,384...8,242,260
JBrowse link
G Gpsm1 G-protein signaling modulator 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:9,140,816...9,167,828
Ensembl chr 3:9,128,636...9,167,827
JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603
JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450
JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18414213 PMID:18479385 PMID:19264732 More... NCBI chr 3:8,682,964...8,736,615
Ensembl chr 3:8,682,113...8,736,667
JBrowse link
G Lcn10 lipocalin 10 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,490,781...8,494,334
Ensembl chr 3:8,490,781...8,494,333
JBrowse link
G Lcn12 lipocalin 12 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,312,404...8,320,206
Ensembl chr 3:8,305,920...8,323,495
JBrowse link
G Lcn6 lipocalin 6 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,484,013...8,489,577
Ensembl chr 3:8,484,013...8,489,574
JBrowse link
G Lcn8 lipocalin 8 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,467,934...8,473,691
Ensembl chr 3:8,467,934...8,470,918
JBrowse link
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:9,027,425...9,034,480
JBrowse link
G Lrrc26 leucine rich repeat containing 26 ISO ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,102,361...8,103,687
Ensembl chr 3:8,102,361...8,103,687
JBrowse link
G Mamdc4 MAM domain containing 4 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,382,387...8,391,003
Ensembl chr 3:8,382,387...8,391,003
JBrowse link
G Man1b1 mannosidase, alpha, class 1B, member 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,143,877...8,165,007
Ensembl chr 3:8,143,381...8,165,006
JBrowse link
G Mir126b microRNA 126b ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:9,415,087...9,415,159 JBrowse link
G Mrpl41 mitochondrial ribosomal protein L41 ISO ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:7,780,658...7,781,576
Ensembl chr 3:7,779,143...7,782,818
JBrowse link
G Nacc2 NACC family member 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,879,952...8,946,660
Ensembl chr 3:8,883,065...8,946,660
JBrowse link
G Ndor1 NADPH dependent diflavin oxidoreductase 1 ISO ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,062,629...8,070,873
Ensembl chr 3:8,062,630...8,070,860
JBrowse link
G Nelfb negative elongation factor complex member B ISO ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,010,883...8,027,403
Ensembl chr 3:8,010,888...8,027,403
JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
JBrowse link
G Noxa1 NADPH oxidase activator 1 ISO ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:7,895,488...7,907,011
Ensembl chr 3:7,895,488...7,905,967
JBrowse link
G Npdc1 neural proliferation, differentiation and control, 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,220,446...8,226,446
Ensembl chr 3:8,213,663...8,226,866
JBrowse link
G Nrarp Notch-regulated ankyrin repeat protein ISO ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:7,992,582...7,995,136
Ensembl chr 3:7,992,552...7,995,133
JBrowse link
G Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor ISO ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:7,861,846...7,870,615
Ensembl chr 3:7,861,872...7,870,614
JBrowse link
G Paxx PAXX, non-homologous end joining factor ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,274,762...8,276,338
Ensembl chr 3:8,274,762...8,276,521
JBrowse link
G Phpt1 phosphohistidine phosphatase 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,392,926...8,394,325 JBrowse link
G Pmpca peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:9,207,731...9,216,846
Ensembl chr 3:9,207,717...9,216,844
JBrowse link
G Pnpla7 patatin-like phospholipase domain containing 7 ISO ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:7,782,572...7,861,504
Ensembl chr 3:7,782,572...7,861,497
JBrowse link
G Ptgds prostaglandin D2 synthase ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,281,899...8,284,833
Ensembl chr 3:8,281,899...8,284,833
JBrowse link
G Qsox2 quiescin sulfhydryl oxidase 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:9,034,994...9,064,649
Ensembl chr 3:9,034,994...9,064,664
JBrowse link
G Rabl6 RAB, member RAS oncogene family-like 6 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,402,666...8,428,588
Ensembl chr 3:8,402,672...8,428,611
JBrowse link
G Rnf208 ring finger protein 208 ISO ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,057,808...8,059,721
Ensembl chr 3:8,043,685...8,059,844
JBrowse link
G Rnf224 ring finger protein 224 ISO ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,050,353...8,052,861
Ensembl chr 3:8,051,475...8,051,945
JBrowse link
G Sapcd2 suppressor APC domain containing 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,186,089...8,195,119
Ensembl chr 3:8,187,266...8,192,546
JBrowse link
G Sec16a SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:9,229,687...9,264,837
Ensembl chr 3:9,229,687...9,264,273
JBrowse link
G Slc34a3 solute carrier family 34 member 3 ISO ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,044,294...8,050,034
Ensembl chr 3:8,044,296...8,049,970
JBrowse link
G Snapc4 small nuclear RNA activating complex, polypeptide 4 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:9,182,061...9,200,819
Ensembl chr 3:9,182,067...9,199,518
JBrowse link
G Spag1 sperm associated antigen 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 ClinVar PMID:24055112 PMID:25741868 PMID:28492532 PMID:30067075 NCBI chr 7:67,361,474...67,421,369
Ensembl chr 7:67,361,477...67,421,368
JBrowse link
G Ssna1 SS nuclear autoantigen 1 ISO ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,084,949...8,086,417
Ensembl chr 3:8,084,974...8,086,356
JBrowse link
G Stpg3 sperm-tail PG-rich repeat containing 3 ISO ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,028,122...8,030,546
Ensembl chr 3:8,028,131...8,034,601
JBrowse link
G Tmem141 transmembrane protein 141 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,439,533...8,441,491
Ensembl chr 3:8,439,533...8,441,491
JBrowse link
G Tmem203 transmembrane protein 203 ISO ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,070,904...8,071,732
Ensembl chr 3:8,070,914...8,071,867
JBrowse link
G Tmem210 transmembrane protein 210 ISO ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,100,595...8,101,643
Ensembl chr 3:8,100,590...8,101,643
JBrowse link
G Tmem250 transmembrane protein 250 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,962,657...8,966,349
Ensembl chr 3:8,962,657...8,966,349
JBrowse link
G Tor4a torsin family 4, member A ISO ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,004,292...8,007,979
Ensembl chr 3:8,002,023...8,008,042
JBrowse link
G Tprn taperin ISO ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,076,164...8,083,642
Ensembl chr 3:8,075,137...8,083,642
JBrowse link
G Traf2 Tnf receptor-associated factor 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,341,950...8,366,609
Ensembl chr 3:8,341,951...8,366,538
JBrowse link
G Tubb4b tubulin, beta 4B class IVb ISO ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,037,844...8,040,294
Ensembl chr 3:8,037,799...8,040,296
JBrowse link
G Uap1l1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,172,335...8,180,505
Ensembl chr 3:8,173,216...8,180,443
JBrowse link
G Ubac1 UBA domain containing 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,825,444...8,848,055
Ensembl chr 3:8,825,447...8,848,028
JBrowse link
G Zmynd19 zinc finger, MYND-type containing 19 ISO ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:7,758,086...7,778,982
Ensembl chr 3:7,758,133...7,767,514
JBrowse link
benign epilepsy with centrotemporal spikes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asah1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr16:50,966,404...50,997,827
Ensembl chr16:50,966,229...51,008,233
JBrowse link
G Chd2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:28492532 PMID:29358611 NCBI chr 1:127,188,146...127,317,041
Ensembl chr 1:127,190,059...127,300,502
JBrowse link
G Cntnap2 contactin associated protein 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr 4:74,109,455...76,366,434
Ensembl chr 4:74,109,472...76,362,027
JBrowse link
G Cpa6 carboxypeptidase A6 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:21922598 PMID:23105115 PMID:25741868 PMID:26467025 PMID:26648591 More... NCBI chr 5:8,559,745...8,888,492
Ensembl chr 5:8,526,741...8,888,485
JBrowse link
G Cstb cystatin B ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:8596935 PMID:9054946 PMID:9342192 PMID:15329070 PMID:15483648 More... NCBI chr20:10,245,462...10,247,505
Ensembl chr20:10,245,462...10,247,526
JBrowse link
G Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:24591017 PMID:25741868 PMID:26505888 PMID:28492532 PMID:29358611 NCBI chr14:77,732,297...77,862,924
Ensembl chr14:77,732,297...77,862,794
JBrowse link
G Epm2a EPM2A glucan phosphatase, laforin ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 1:5,727,111...5,845,338
Ensembl chr 1:5,727,066...5,920,555
JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:23708187 PMID:25726841 PMID:25730860 PMID:27864268 PMID:28492532 More... NCBI chr10:26,376,805...26,463,680
Ensembl chr10:26,374,694...26,464,346
JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603
JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Rolandic epilepsy
CTD
ClinVar
PMID:7574460 PMID:16199547 PMID:18414213 PMID:23933818 PMID:23933819 More... NCBI chr10:5,630,684...6,043,341
Ensembl chr10:5,631,369...6,044,637
JBrowse link
G Ier3ip1 immediate early response 3 interacting protein 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 4:132,331,372...132,342,316
Ensembl chr 4:132,332,180...132,342,316
JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Benign Rolandic epilepsy ClinVar PMID:18625963 NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
JBrowse link
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:18625963 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr 7:97,730,219...98,025,652
Ensembl chr 7:97,730,465...98,025,653
JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr 3:8,682,964...8,736,615
Ensembl chr 3:8,682,113...8,736,667
JBrowse link
G Maf MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532 PMID:29358611 NCBI chr19:43,353,867...43,713,162
Ensembl chr19:43,360,342...43,712,365
JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:18414213 PMID:19214208 PMID:19752159 PMID:20713952 PMID:25741868 More... NCBI chr  X:96,767,686...96,873,477
Ensembl chr  X:96,771,947...96,873,524
JBrowse link
G Plcb1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 3:122,059,968...122,772,896
Ensembl chr 3:122,060,031...122,772,869
JBrowse link
G Prickle1 prickle planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:21901791 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr 7:124,639,142...124,735,027
Ensembl chr 7:124,639,142...124,658,113
JBrowse link
G Prickle2 prickle planar cell polarity protein 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532 PMID:29358611 NCBI chr 4:124,869,552...125,214,862
Ensembl chr 4:124,869,552...125,214,824
JBrowse link
G Rbfox1 RNA binding fox-1 homolog 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:26467025 PMID:28346479 PMID:28492532 PMID:29358611 NCBI chr10:8,152,198...10,248,120
Ensembl chr10:8,152,198...9,686,659
JBrowse link
G Rbfox3 RNA binding fox-1 homolog 3 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr10:103,720,355...104,157,277
Ensembl chr10:103,720,636...104,156,935
JBrowse link
G Reln reelin ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:14515139 PMID:14593429 PMID:20697953 PMID:24828792 PMID:25620207 More... NCBI chr 4:12,736,177...13,162,956
Ensembl chr 4:12,736,130...13,162,211
JBrowse link
G Scarb2 scavenger receptor class B, member 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:28492532 PMID:29358611 NCBI chr14:15,558,271...15,609,813
Ensembl chr14:15,558,236...15,609,813
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:11254445 PMID:12610651 PMID:18021921 PMID:19200853 PMID:19522081 More... NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532 PMID:29358611 NCBI chr 1:86,353,917...86,363,836
Ensembl chr 1:86,353,917...86,363,739
JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:28492532 PMID:29358611 NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214
JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:18414213 PMID:20478850 PMID:24776970 PMID:24848745 PMID:25250524 More... NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516
JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
JBrowse link
G Slc6a1 solute carrier family 6 member 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532 PMID:29358611 NCBI chr 4:147,448,961...147,482,295
Ensembl chr 4:147,466,965...147,482,293
JBrowse link
G Snip1 Smad nuclear interacting protein 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532 PMID:29358611 NCBI chr 5:137,328,371...137,335,846
Ensembl chr 5:137,328,371...137,335,845
JBrowse link
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25224718 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr 3:13,241,164...13,306,047
Ensembl chr 3:13,241,217...13,306,046
JBrowse link
G Strada STE20 related adaptor alpha ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532 PMID:29358611 NCBI chr10:91,094,849...91,123,890
Ensembl chr10:91,094,687...91,123,830
JBrowse link
G Szt2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:28492532 PMID:29358611 NCBI chr 5:131,897,250...131,943,953
Ensembl chr 5:131,897,275...131,943,904
JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:24033266 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050
JBrowse link
G Wwox WW domain-containing oxidoreductase ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391
JBrowse link
complex partial epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn3a sodium voltage-gated channel alpha subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18242854 NCBI chr 3:50,146,411...50,258,119
Ensembl chr 3:50,148,139...50,258,119
JBrowse link
Familial Focal Epilepsy, with Variable Foci 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcnkb chloride voltage-gated channel Kb ISO ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 1 ClinVar PMID:25741868 PMID:30773290 NCBI chr 5:153,710,086...153,733,162
Ensembl chr 5:153,710,094...153,732,153
JBrowse link
G Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: DEPDC5-Related Disorder | ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 1 | ClinVar Annotator: match by term: Familial focal epilepsy with variable foci
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:9851433 PMID:10577924 PMID:10825362 PMID:14510823 More... NCBI chr14:77,732,297...77,862,924
Ensembl chr14:77,732,297...77,862,794
JBrowse link
G Nprl2 NPR2-like, GATOR1 complex subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:108,215,823...108,218,996
Ensembl chr 8:108,215,814...108,218,996
JBrowse link
G Nprl3 NPR3-like, GATOR1 complex subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:15,355,361...15,395,812
Ensembl chr10:15,355,355...15,395,810
JBrowse link
Familial Focal Epilepsy, with Variable Foci 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 2 ClinVar PMID:25741868 PMID:30408610 NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580
JBrowse link
G Nprl2 NPR2-like, GATOR1 complex subunit ISO ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 2 OMIM
ClinVar
PMID:25741868 PMID:26505888 PMID:27173016 NCBI chr 8:108,215,823...108,218,996
Ensembl chr 8:108,215,814...108,218,996
JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 2 ClinVar PMID:25741868 PMID:30408610 NCBI chr 5:57,901,681...57,903,894
Ensembl chr 5:57,901,682...57,903,894
JBrowse link
Familial Focal Epilepsy, with Variable Foci 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nprl3 NPR3-like, GATOR1 complex subunit ISO ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 3 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25640679 PMID:25741868 More... NCBI chr10:15,355,361...15,395,812
Ensembl chr10:15,355,355...15,395,810
JBrowse link
Familial Focal Epilepsy, with Variable Foci 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn3a sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 4 | ClinVar Annotator: match by term: SCN3A- Related Disorder OMIM
ClinVar
PMID:24157691 PMID:24157694 PMID:25741868 PMID:26467025 PMID:28235671 More... NCBI chr 3:50,146,411...50,258,119
Ensembl chr 3:50,148,139...50,258,119
JBrowse link
familial temporal lobe epilepsy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep55 centrosomal protein 55 ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 ClinVar PMID:24206907 PMID:28492532 NCBI chr 1:235,832,823...235,848,401
Ensembl chr 1:235,832,878...235,848,394
JBrowse link
G Ffar4 free fatty acid receptor 4 ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 ClinVar PMID:24206907 PMID:28492532 NCBI chr 1:235,873,576...235,891,597
Ensembl chr 1:235,873,576...235,891,597
JBrowse link
G Fra10ac1 FRA10A associated CGG repeat 1 ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 ClinVar PMID:24206907 PMID:28492532 NCBI chr 1:235,969,071...236,001,074
Ensembl chr 1:235,969,112...236,001,210
JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 ClinVar PMID:25741868 NCBI chr10:5,630,684...6,043,341
Ensembl chr10:5,631,369...6,044,637
JBrowse link
G Lgi1 leucine-rich, glioma inactivated 1 ISO ClinVar Annotator: match by term: Autosomal dominant epilepsy with auditory features | ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 OMIM
ClinVar
PMID:9536098 PMID:11810107 PMID:11978770 PMID:12205652 PMID:12601709 More... NCBI chr 1:236,043,376...236,084,270
Ensembl chr 1:236,042,954...236,084,616
JBrowse link
G Mical1 microtubule associated monooxygenase, calponin and LIM domain containing 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1
CTD
ClinVar
PMID:25741868 NCBI chr20:44,974,137...44,986,089
Ensembl chr20:44,974,138...44,986,089
JBrowse link
G Myof myoferlin ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 ClinVar PMID:24206907 PMID:28492532 NCBI chr 1:235,673,666...235,822,413
Ensembl chr 1:235,673,666...235,822,334
JBrowse link
G Pde6c phosphodiesterase 6C ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 ClinVar PMID:24206907 PMID:28492532 NCBI chr 1:235,909,473...235,965,460
Ensembl chr 1:235,909,775...235,965,315
JBrowse link
G Rbp4 retinol binding protein 4 ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 ClinVar PMID:24206907 PMID:28492532 NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
JBrowse link
G Reln reelin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1
CTD
ClinVar
PMID:2564880 PMID:14515139 PMID:18414213 PMID:24467814 PMID:25648840 More... NCBI chr 4:12,736,177...13,162,956
Ensembl chr 4:12,736,130...13,162,211
JBrowse link
familial temporal lobe epilepsy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpa6 carboxypeptidase A6 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 2 ClinVar NCBI chr 5:8,559,745...8,888,492
Ensembl chr 5:8,526,741...8,888,485
JBrowse link
familial temporal lobe epilepsy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A ISO mRNA, protein:increased expression:hippocampus, temporal lobe (human)
ClinVar Annotator: match by term: MDR1 POLYMORPHISM
ClinVar
RGD
PMID:10716719 PMID:11502320 PMID:12686700 PMID:15452305 PMID:15452306 More... RGD:11041150 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
JBrowse link
familial temporal lobe epilepsy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpa6 carboxypeptidase A6 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 5 OMIM
ClinVar
PMID:21922598 PMID:23105115 PMID:25741868 PMID:26467025 PMID:26648591 More... NCBI chr 5:8,559,745...8,888,492
Ensembl chr 5:8,526,741...8,888,485
JBrowse link
familial temporal lobe epilepsy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Reln reelin ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 7 OMIM
ClinVar
PMID:14515139 PMID:14593429 PMID:20697953 PMID:24828792 PMID:25620207 More... NCBI chr 4:12,736,177...13,162,956
Ensembl chr 4:12,736,130...13,162,211
JBrowse link
familial temporal lobe epilepsy 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn3 actinin alpha 3 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,159,081...202,175,012
Ensembl chr 1:202,159,082...202,175,012
JBrowse link
G Acy3 aminoacylase 3 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:201,279,751...201,285,803
Ensembl chr 1:201,279,851...201,283,175
JBrowse link
G Ahnak AHNAK nucleoprotein ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:205,882,223...205,970,934
Ensembl chr 1:205,882,273...205,970,926
JBrowse link
G Aip aryl-hydrocarbon receptor-interacting protein ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:201,407,287...201,419,220
Ensembl chr 1:201,407,288...201,419,122
JBrowse link
G Aldh3b1 aldehyde dehydrogenase 3 family, member B1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:201,145,309...201,162,675
Ensembl chr 1:201,145,309...201,163,921
JBrowse link
G Aldh3b2 aldehyde dehydrogenase 3 family, member B2 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:201,250,260...201,264,699
Ensembl chr 1:201,253,157...201,264,705
JBrowse link
G Ankrd13d ankyrin repeat domain 13D ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:201,565,712...201,577,987
Ensembl chr 1:201,565,712...201,577,933
JBrowse link
G Ap5b1 adaptor related protein complex 5 subunit beta 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,876,272...202,880,303
Ensembl chr 1:202,876,272...202,880,289
JBrowse link
G Arl2 ADP-ribosylation factor like GTPase 2 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:203,434,129...203,446,156
Ensembl chr 1:203,434,129...203,446,119
JBrowse link
G Asrgl1 asparaginase and isoaspartyl peptidase 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:206,006,103...206,027,115
Ensembl chr 1:206,006,109...206,027,108
JBrowse link
G Atg2a autophagy related 2A ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:203,542,559...203,562,242
Ensembl chr 1:203,542,559...203,562,242
JBrowse link
G Atl3 atlastin GTPase 3 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:204,680,958...204,727,360
Ensembl chr 1:204,680,968...204,723,354
JBrowse link
G B3gat3 beta-1,3-glucuronyltransferase 3 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:205,817,374...205,823,928
Ensembl chr 1:205,817,378...205,837,807
JBrowse link
G B4gat1 beta-1,4-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,343,268...202,345,490
Ensembl chr 1:202,343,240...202,346,065
JBrowse link
G Bad BCL2-associated agonist of cell death ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823
JBrowse link
G Banf1 BAF nuclear assembly factor 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,672,170...202,674,215
Ensembl chr 1:202,671,305...202,674,188
JBrowse link
G Batf2 basic leucine zipper ATF-like transcription factor 2 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:203,467,291...203,479,428
Ensembl chr 1:203,468,097...203,475,889
JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,184,812...202,204,118
Ensembl chr 1:202,186,125...202,204,086
JBrowse link
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:206,629,340...206,646,085
Ensembl chr 1:206,629,500...206,646,063
JBrowse link
G Bles03 basophilic leukemia expressed protein BLES03 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,734,555...202,736,809
Ensembl chr 1:202,734,555...202,736,804
JBrowse link
G Brms1 BRMS1, transcriptional repressor and anoikis regulator ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,345,766...202,355,028
Ensembl chr 1:202,345,704...202,355,028
JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:205,731,814...205,743,430
Ensembl chr 1:205,733,872...205,743,421
JBrowse link
G Cabp2 calcium binding protein 2 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:201,374,649...201,380,469
Ensembl chr 1:201,375,276...201,380,469
JBrowse link
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:201,428,671...201,442,950
Ensembl chr 1:201,428,672...201,433,172
JBrowse link
G Capn1 calpain 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:203,275,912...203,300,848
Ensembl chr 1:203,277,344...203,300,177
JBrowse link
G Carns1 carnosine synthase 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:201,459,061...201,470,019
Ensembl chr 1:201,459,076...201,469,845
JBrowse link
G Catsper1 cation channel, sperm associated 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,643,009...202,652,059
Ensembl chr 1:202,643,038...202,651,824
JBrowse link
G Catsperz catsper channel auxiliary subunit zeta ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:204,114,816...204,118,582 JBrowse link
G Cblif cobalamin binding intrinsic factor ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:208,605,983...208,620,231
Ensembl chr 1:208,605,983...208,620,344
JBrowse link
G Ccdc85b coiled-coil domain containing 85B ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,763,645...202,764,631
Ensembl chr 1:202,763,631...202,764,703
JBrowse link
G Ccdc86 coiled-coil domain containing 86 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:207,590,946...207,596,527
Ensembl chr 1:207,590,168...207,596,544
JBrowse link
G Ccdc87 coiled-coil domain containing 87 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,135,021...202,137,717
Ensembl chr 1:202,134,963...202,138,337
JBrowse link
G Ccdc88b coiled-coil domain containing 88B ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:204,036,913...204,052,878
Ensembl chr 1:204,036,918...204,052,970
JBrowse link
G Ccs copper chaperone for superoxide dismutase ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,113,792...202,134,931
Ensembl chr 1:202,113,804...202,134,915
JBrowse link
G Cd248 CD248 molecule ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,373,676...202,376,240
Ensembl chr 1:202,373,676...202,376,240
JBrowse link
G Cd5 Cd5 molecule ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:207,365,337...207,386,313
Ensembl chr 1:207,365,337...207,386,313
JBrowse link
G Cd6 Cd6 molecule ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:207,442,873...207,481,703
Ensembl chr 1:207,442,877...207,481,634
JBrowse link
G Cdc42bpg CDC42 binding protein kinase gamma ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:203,608,339...203,628,502
Ensembl chr 1:203,608,574...203,628,502
JBrowse link
G Cdc42ep2 CDC42 effector protein 2 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:203,202,000...203,210,891
Ensembl chr 1:203,201,873...203,210,897
JBrowse link
G Cdca5 cell division cycle associated 5 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:203,378,550...203,392,027
Ensembl chr 1:203,378,577...203,392,023
JBrowse link
G Cdk2ap2 cyclin-dependent kinase 2 associated protein 2 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:201,391,056...201,393,137
Ensembl chr 1:201,391,466...201,393,137
JBrowse link
G Cfl1 cofilin 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,796,012...202,801,337
Ensembl chr 1:202,786,627...202,817,587
JBrowse link
G Chka choline kinase alpha ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:201,076,804...201,125,517
Ensembl chr 1:201,076,860...201,125,516
JBrowse link
G Chrm1 cholinergic receptor, muscarinic 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:205,567,046...205,583,001
Ensembl chr 1:205,567,220...205,582,356
JBrowse link
G Clcf1 cardiotrophin-like cytokine factor 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:201,507,763...201,517,607
Ensembl chr 1:201,507,859...201,517,605
JBrowse link
G Cnih2 cornichon family AMPA receptor auxiliary protein 2 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,399,416...202,405,110
Ensembl chr 1:202,399,419...202,405,089
JBrowse link
G Coro1b coronin 1B ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:201,442,977...201,448,416
Ensembl chr 1:201,443,014...201,448,416
JBrowse link
G Cox8a cytochrome c oxidase subunit 8A ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:204,402,118...204,404,439 JBrowse link
G Cpsf7 cleavage and polyadenylation specific factor 7 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:207,167,690...207,191,865
Ensembl chr 1:207,167,859...207,191,905
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055
JBrowse link
G Cst6 cystatin E/M ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,655,322...202,657,030
Ensembl chr 1:202,655,322...202,657,030
JBrowse link
G Ctsf cathepsin F ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,152,777...202,158,525
Ensembl chr 1:202,152,728...202,158,525
JBrowse link
G Ctsw cathepsin W ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,772,395...202,777,021
Ensembl chr 1:202,772,572...202,775,964
JBrowse link
G Cyb561a3 cytochrome b561 family, member A3 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:207,216,185...207,237,575
Ensembl chr 1:207,226,230...207,237,571
JBrowse link
G Dagla diacylglycerol lipase, alpha ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:206,890,635...206,947,332
Ensembl chr 1:206,890,638...206,947,232
JBrowse link
G Ddb1 damage-specific DNA binding protein 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:207,252,890...207,278,685
Ensembl chr 1:207,252,890...207,278,676
JBrowse link
G Dnajc4 DnaJ heat shock protein family (Hsp40) member C4 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:204,178,189...204,182,412
Ensembl chr 1:204,178,191...204,182,387
JBrowse link
G Dpf2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:203,183,674...203,199,037
Ensembl chr 1:203,183,686...203,198,983
JBrowse link
G Dpp3 dipeptidylpeptidase 3 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,204,683...202,228,501
Ensembl chr 1:202,204,693...202,228,541
JBrowse link
G Drap1 Dr1 associated protein 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,731,775...202,734,468
Ensembl chr 1:202,731,788...202,734,425
JBrowse link
G Eef1g eukaryotic translation elongation factor 1 gamma ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:205,860,713...205,871,319
Ensembl chr 1:205,860,698...205,872,382
JBrowse link
G Efemp2 EGF containing fibulin extracellular matrix protein 2 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,781,692...202,789,784
Ensembl chr 1:202,781,665...202,789,414
JBrowse link
G Ehbp1l1 EH domain binding protein 1-like 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,994,115...203,014,320
Ensembl chr 1:202,994,118...203,014,270
JBrowse link
G Ehd1 EH-domain containing 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:203,579,850...203,602,226
Ensembl chr 1:203,579,869...203,602,212
JBrowse link
G Eif1ad eukaryotic translation initiation factor 1A domain containing ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,674,362...202,679,662
Ensembl chr 1:202,674,185...202,679,658
JBrowse link
G Eml3 EMAP like 3 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:205,826,354...205,837,790
Ensembl chr 1:205,817,378...205,837,807
JBrowse link
G Esrra estrogen related receptor, alpha ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:204,104,100...204,114,182
Ensembl chr 1:204,104,101...204,114,268
JBrowse link
G Fads1 fatty acid desaturase 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:206,827,724...206,842,734
Ensembl chr 1:206,827,765...206,842,734
JBrowse link
G Fads2 fatty acid desaturase 2 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:206,707,384...206,747,333
Ensembl chr 1:206,708,783...206,748,789
JBrowse link
G Fads3 fatty acid desaturase 3 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:206,685,667...206,702,538
Ensembl chr 1:206,685,894...206,704,769
JBrowse link
G Fam89b family with sequence similarity 89, member B ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:203,015,772...203,017,890
Ensembl chr 1:203,015,773...203,017,367
JBrowse link
G Fau FAU ubiquitin like and ribosomal protein S30 fusion ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:203,350,226...203,351,741
Ensembl chr 1:203,350,189...203,351,742
JBrowse link
G Fen1 flap structure-specific endonuclease 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:206,845,126...206,849,821
Ensembl chr 1:206,844,884...206,850,003
JBrowse link
G Fermt3 FERM domain containing kindlin 3 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:204,189,483...204,207,683
Ensembl chr 1:204,189,484...204,207,587
JBrowse link
G Fibp FGF1 intracellular binding protein ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,768,065...202,772,405
Ensembl chr 1:202,768,078...202,772,399
JBrowse link
G Flrt1 fibronectin leucine rich transmembrane protein 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:204,275,785...204,292,844
Ensembl chr 1:204,275,367...204,353,750
JBrowse link
G Fosl1 FOS like 1, AP-1 transcription factor subunit ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,754,549...202,763,057
Ensembl chr 1:202,754,529...202,764,930
JBrowse link
G Frmd8 FERM domain containing 8 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:203,143,216...203,163,868
Ensembl chr 1:203,143,218...203,163,870
JBrowse link
G Fth1 ferritin heavy chain 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:206,627,142...206,629,430
Ensembl chr 1:206,627,103...206,725,424
JBrowse link
G Gal galanin and GMAP prepropeptide ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25691535 PMID:25741868 PMID:28492532 NCBI chr 1:200,650,439...200,655,302
Ensembl chr 1:200,650,439...200,654,959
JBrowse link
G Gal3st3 galactose-3-O-sulfotransferase 3 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,593,692...202,603,446
Ensembl chr 1:202,593,692...202,603,445
JBrowse link
G Ganab glucosidase II alpha subunit ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:205,793,810...205,813,701
Ensembl chr 1:205,793,895...205,813,695
JBrowse link
G Gng3 G protein subunit gamma 3 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:205,731,837...205,733,603
Ensembl chr 1:205,731,837...205,733,603
JBrowse link
G Gpha2 glycoprotein hormone subunit alpha 2 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:203,525,952...203,527,271
Ensembl chr 1:203,526,122...203,527,270
JBrowse link
G Gpr137 G protein-coupled receptor 137 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:204,129,636...204,132,622
Ensembl chr 1:204,129,636...204,133,082
JBrowse link
G Gpr152 G protein-coupled receptor 152 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:201,435,854...201,438,373
Ensembl chr 1:201,435,884...201,437,443
JBrowse link
G Grk2 G protein-coupled receptor kinase 2 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:201,581,480...201,601,580
Ensembl chr 1:201,581,480...201,601,582
JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
JBrowse link
G Hnrnpul2 heterogeneous nuclear ribonucleoprotein U-like 2 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:205,713,431...205,725,553
Ensembl chr 1:205,711,886...205,725,553
JBrowse link
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:200,506,641...200,529,293
Ensembl chr 1:200,506,338...200,529,514
JBrowse link
G Incenp inner centromere protein ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:206,520,655...206,550,575
Ensembl chr 1:206,523,380...206,553,265
JBrowse link
G Ints5 integrator complex subunit 5 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:205,788,906...205,793,685
Ensembl chr 1:205,788,906...205,793,685
JBrowse link
G Kat5 lysine acetyltransferase 5 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,895,751...202,903,178
Ensembl chr 1:202,895,751...202,903,458
JBrowse link
G Kcnk4 potassium two pore domain channel subfamily K member 4 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:204,117,941...204,129,494
Ensembl chr 1:204,114,572...204,125,925
JBrowse link
G Kcnk7 potassium two pore domain channel subfamily K member 7 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,988,801...202,992,842
Ensembl chr 1:202,990,198...202,992,872
JBrowse link
G Kdm2a lysine demethylase 2A ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:201,612,427...201,682,359
Ensembl chr 1:201,612,453...201,680,787
JBrowse link
G Klc2 kinesin light chain 2 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,414,555...202,424,787
Ensembl chr 1:202,414,557...202,424,672
JBrowse link
G Kmt5b lysine methyltransferase 5B ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:201,000,444...201,049,819
Ensembl chr 1:201,000,444...201,049,819
JBrowse link
G Lgals12 galectin 12 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:204,832,065...204,842,759
Ensembl chr 1:204,832,065...204,842,759
JBrowse link
G LOC120095728 small nucleolar RNA SNORD22 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr11:9,097,799...9,097,923
Ensembl chr11:9,097,799...9,097,923
JBrowse link
G LOC120100229 small nucleolar RNA SNORD27 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:205,620,094...205,620,167
Ensembl chr 1:205,620,094...205,620,167
JBrowse link
G LOC120100230 small nucleolar RNA SNORD26 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:205,619,818...205,619,892
Ensembl chr 1:205,619,818...205,619,892
JBrowse link
G LOC120100231 small nucleolar RNA SNORD30 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:205,621,234...205,621,302
Ensembl chr 1:205,621,234...205,621,302
JBrowse link
G LOC689065 hypothetical protein LOC689065 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:201,784,009...201,785,916
Ensembl chr 1:201,784,009...201,785,916
JBrowse link
G Lrfn4 leucine rich repeat and fibronectin type III domain containing 4 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:201,888,569...201,891,861
Ensembl chr 1:201,888,569...201,891,861
JBrowse link
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581
JBrowse link
G Lrrc10b leucine rich repeat containing 10B ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:207,096,471...207,097,699
Ensembl chr 1:207,022,919...207,098,045
JBrowse link
G Lrrn4cl LRRN4 C-terminal like ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:205,743,580...205,759,879 JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975
JBrowse link
G Macrod1 mono-ADP ribosylhydrolase 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:204,246,238...204,387,027
Ensembl chr 1:204,246,166...204,389,716
JBrowse link
G Majin membrane anchored junction protein ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:203,487,777...203,524,098
Ensembl chr 1:203,488,069...203,524,092
JBrowse link
G Map3k11 mitogen-activated protein kinase kinase kinase 11 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,975,353...202,988,655
Ensembl chr 1:202,975,353...202,988,652
JBrowse link
G Map4k2 mitogen activated protein kinase kinase kinase kinase 2 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:203,645,098...203,660,515
Ensembl chr 1:203,645,153...203,660,331
JBrowse link
G Mark2 microtubule affinity regulating kinase 2 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:204,461,029...204,526,247
Ensembl chr 1:204,461,030...204,525,652
JBrowse link
G Men1 menin 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
JBrowse link
G Mir192 microRNA 192 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:203,564,946...203,565,055
Ensembl chr 1:203,564,946...203,565,055
JBrowse link
G Mir194-2 microRNA 194-2 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:203,564,761...203,564,845
Ensembl chr 1:203,564,761...203,564,845
JBrowse link
G mrpl11 mitochondrial ribosomal protein L11 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,264,419...202,267,288
Ensembl chr 1:202,264,471...202,267,756
JBrowse link
G Mrpl21 mitochondrial ribosomal protein L21 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:200,529,416...200,542,568
Ensembl chr 1:200,529,416...200,537,896
JBrowse link
G Mrpl49 mitochondrial ribosomal protein L49 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:203,346,068...203,350,040
Ensembl chr 1:203,332,481...203,350,049
JBrowse link
G Ms4a1 membrane spanning 4-domains A1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:207,906,370...207,927,028
Ensembl chr 1:207,906,374...207,918,512
JBrowse link
G Ms4a10 membrane spanning 4-domains A10 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:207,611,312...207,624,452
Ensembl chr 1:207,611,312...207,624,452
JBrowse link
G Ms4a12 membrane spanning 4-domains A12 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:207,881,065...207,894,633
Ensembl chr 1:207,882,333...207,893,938
JBrowse link
G Ms4a13-ps1 membrane spanning 4-domains A13, pseudogene 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:207,843,457...207,872,137
Ensembl chr 1:207,843,432...207,872,137
JBrowse link
G Ms4a14 membrane spanning 4-domains A14 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:207,949,423...207,964,937
Ensembl chr 1:207,949,426...207,964,937
JBrowse link
G Ms4a15 membrane spanning 4-domains A15 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:207,628,305...207,641,799
Ensembl chr 1:207,628,305...207,641,799
JBrowse link
G Ms4a18 membrane spanning 4-domains A18 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:207,644,858...207,662,471
Ensembl chr 1:207,645,780...207,665,793
JBrowse link
G Ms4a2 membrane spanning 4-domains A2 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:208,440,179...208,448,716
Ensembl chr 1:208,440,361...208,448,310
JBrowse link
G Ms4a3 membrane spanning 4-domains A3 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:208,462,300...208,480,129
Ensembl chr 1:208,462,301...208,480,101
JBrowse link
G Ms4a4a membrane spanning 4-domains A4A ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:208,060,507...208,085,121
Ensembl chr 1:208,046,971...208,085,119
JBrowse link
G Ms4a5 membrane spanning 4-domains A5 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:207,927,052...207,934,886
Ensembl chr 1:207,927,052...207,934,836
JBrowse link
G Ms4a6a membrane spanning 4-domains A6A ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:208,401,465...208,414,831
Ensembl chr 1:208,401,466...208,414,758
JBrowse link
G Ms4a7 membrane spanning 4-domains A7 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:207,968,761...207,984,812
Ensembl chr 1:207,968,761...207,983,260
JBrowse link
G Ms4a8 membrane spanning 4-domains A8 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:207,730,665...207,744,260
Ensembl chr 1:207,730,665...207,744,324
JBrowse link
G Mta2 metastasis associated 1 family, member 2 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:205,838,181...205,846,903
Ensembl chr 1:205,837,964...205,846,946
JBrowse link
G Mus81 MUS81 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,790,295...202,796,008
Ensembl chr 1:202,790,466...202,795,843
JBrowse link
G Myrf myelin regulatory factor ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:206,854,175...206,886,276
Ensembl chr 1:206,854,175...206,886,157
JBrowse link
G Naa40 N(alpha)-acetyltransferase 40, NatD catalytic subunit ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:204,410,636...204,430,890
Ensembl chr 1:204,413,498...204,430,717
JBrowse link
G Naaladl1 N-acetylated alpha-linked acidic dipeptidase-like 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:203,400,632...203,414,195
Ensembl chr 1:203,400,631...203,414,195
JBrowse link
G Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:201,140,585...201,144,573
Ensembl chr 1:201,140,585...201,144,511
JBrowse link
G Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:201,300,365...201,305,461
Ensembl chr 1:201,299,985...201,305,466
JBrowse link
G Npas4 neuronal PAS domain protein 4 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,281,260...202,298,681
Ensembl chr 1:202,281,958...202,286,724
JBrowse link
G Nrxn2 neurexin 2 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:203,726,420...203,842,301
Ensembl chr 1:203,735,753...203,842,297
JBrowse link
G Nudt22 nudix hydrolase 22 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:204,182,797...204,186,421
Ensembl chr 1:204,182,802...204,186,280
JBrowse link
G Nudt8 nudix hydrolase 8 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:201,293,660...201,295,233
Ensembl chr 1:201,292,619...201,295,224
JBrowse link
G Nxf1 nuclear RNA export factor 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:205,655,442...205,668,637
Ensembl chr 1:205,655,375...205,668,636
JBrowse link
G Oosp2 oocyte secreted protein 2 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:208,480,265...208,496,843
Ensembl chr 1:208,484,500...208,496,216
JBrowse link
G Otub1 OTU deubiquitinase, ubiquitin aldehyde binding 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:204,387,215...204,395,495
Ensembl chr 1:204,387,215...204,395,483
JBrowse link
G Ovol1 ovo like transcriptional repressor 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,855,261...202,868,858
Ensembl chr 1:202,855,265...202,866,831
JBrowse link
G Pacs1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,437,503...202,569,473
Ensembl chr 1:202,437,505...202,569,473
JBrowse link
G Pc pyruvate carboxylase ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380
JBrowse link
G Pcnx3 pecanex 3 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,951,322...202,974,167
Ensembl chr 1:202,951,322...202,976,561
JBrowse link
G Peli3 pellino E3 ubiquitin protein ligase family member 3 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,230,034...202,242,900
Ensembl chr 1:202,232,228...202,242,857
JBrowse link
G Pga5 pepsinogen A5 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:207,317,021...207,327,156
Ensembl chr 1:207,317,021...207,327,156
JBrowse link
G Pitpnm1 phosphatidylinositol transfer protein, membrane-associated 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:201,394,099...201,407,523
Ensembl chr 1:201,394,149...201,407,522
JBrowse link
G Plaat3 phospholipase A and acyltransferase 3 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:204,782,608...204,816,397
Ensembl chr 1:204,782,729...204,817,667
JBrowse link
G Plaat5 phospholipase A and acyltransferase 5 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:204,847,600...204,878,456
Ensembl chr 1:204,847,600...204,878,184
JBrowse link
G Plcb3 phospholipase C beta 3 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:204,143,257...204,160,384
Ensembl chr 1:204,144,956...204,160,228
JBrowse link
G Pola2 DNA polymerase alpha 2, accessory subunit ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:203,227,183...203,251,350
Ensembl chr 1:203,203,388...203,251,348
JBrowse link
G Pold4 DNA polymerase delta 4, accessory subunit ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:201,526,591...201,528,406
Ensembl chr 1:201,526,665...201,528,401
JBrowse link
G Polr2g RNA polymerase II subunit G ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:205,689,160...205,692,537
Ensembl chr 1:205,689,160...205,692,686
JBrowse link
G Ppp1ca protein phosphatase 1 catalytic subunit alpha ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:201,485,117...201,488,734
Ensembl chr 1:201,485,085...201,497,327
JBrowse link
G Ppp1r14b protein phosphatase 1, regulatory (inhibitor) subunit 14B ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:204,165,210...204,167,320
Ensembl chr 1:204,163,299...204,167,319
JBrowse link
G Ppp1r32 protein phosphatase 1, regulatory subunit 32 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:207,113,807...207,122,378
Ensembl chr 1:207,113,809...207,122,358
JBrowse link
G Ppp2r5b protein phosphatase 2, regulatory subunit B', beta ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:203,527,268...203,535,442
Ensembl chr 1:203,527,270...203,535,416
JBrowse link
G Ppp6r3 protein phosphatase 6, regulatory subunit 3 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:200,693,125...200,807,578
Ensembl chr 1:200,693,440...200,807,548
JBrowse link
G Prdx5 peroxiredoxin 5 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:204,099,826...204,103,589
Ensembl chr 1:204,099,826...204,114,268
JBrowse link
G Prpf19 pre-mRNA processing factor 19 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:207,541,582...207,552,664
Ensembl chr 1:207,541,595...207,552,662
JBrowse link
G Ptgdr2 prostaglandin D2 receptor 2 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:207,585,088...207,590,275
Ensembl chr 1:207,587,917...207,589,213
JBrowse link
G Ptprcap protein tyrosine phosphatase, receptor type, C-associated protein ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:201,449,133...201,451,293
Ensembl chr 1:201,449,113...201,451,288
JBrowse link
G Pygm glycogen phosphorylase, muscle associated ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:203,690,550...203,705,369
Ensembl chr 1:203,690,533...203,705,368
JBrowse link
G Rab1b RAB1B, member RAS oncogene family ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,405,759...202,413,850
Ensembl chr 1:202,405,759...202,413,868
JBrowse link
G Rab3il1 RAB3A interacting protein-like 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:206,646,168...206,682,718
Ensembl chr 1:206,646,155...206,679,972
JBrowse link
G Rad9a RAD9 checkpoint clamp component A ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:201,488,511...201,553,582
Ensembl chr 1:201,487,136...201,553,608
JBrowse link
G Rasgrp2 RAS guanyl releasing protein 2 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:203,705,777...203,722,993
Ensembl chr 1:203,707,481...203,722,993
JBrowse link
G Rbm14 RNA binding motif protein 14 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,076,940...202,105,688
Ensembl chr 1:202,078,287...202,105,665
JBrowse link
G Rbm4 RNA binding motif protein 4 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,078,442...202,087,506
Ensembl chr 1:202,085,279...202,105,380
JBrowse link
G Rbm4b RNA binding motif protein 4B ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,047,934...202,058,025
Ensembl chr 1:202,047,927...202,058,020
JBrowse link
G Rce1 Ras converting CAAX endopeptidase 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:201,899,358...201,902,593
Ensembl chr 1:201,899,358...201,902,484
JBrowse link
G Rcor2 REST corepressor 2 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:204,453,403...204,461,403
Ensembl chr 1:204,454,360...204,460,838
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
JBrowse link
G RGD1311946 similar to RIKEN cDNA 1810055G02 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:200,945,241...200,953,950
Ensembl chr 1:200,945,180...200,962,585
JBrowse link
G RGD1563323 similar to hypothetical protein FLJ22531 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:201,902,564...201,989,945 JBrowse link
G Rhod ras homolog family member D ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:201,708,699...201,724,405
Ensembl chr 1:201,708,699...201,722,632
JBrowse link
G Rin1 Ras and Rab interactor 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,355,729...202,362,731
Ensembl chr 1:202,355,890...202,362,729
JBrowse link
G Rnaseh2c ribonuclease H2, subunit C ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,894,504...202,895,675
Ensembl chr 1:202,894,643...202,897,516
JBrowse link
G Rom1 retinal outer segment membrane protein 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:205,824,050...205,826,058
Ensembl chr 1:205,824,052...205,826,175
JBrowse link
G Rps6ka4 ribosomal protein S6 kinase A4 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:204,021,805...204,032,781
Ensembl chr 1:204,021,806...204,032,761
JBrowse link
G Rps6kb2 ribosomal protein S6 kinase B2 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:201,451,265...201,458,096
Ensembl chr 1:201,451,265...201,458,078
JBrowse link
G Rtn3 reticulon 3 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:204,612,675...204,669,212
Ensembl chr 1:204,612,675...204,669,275
JBrowse link
G Sac3d1 SAC3 domain containing 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:203,414,181...203,416,619
Ensembl chr 1:203,414,187...203,416,604
JBrowse link
G Sart1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,690,472...202,699,136
Ensembl chr 1:202,690,459...202,699,136
JBrowse link
G Scgb1a1 secretoglobin family 1A member 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:205,977,060...205,980,610
Ensembl chr 1:205,977,060...205,980,610
JBrowse link
G Scgb1d2 secretoglobin, family 1D, member 2 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:206,228,682...206,233,587
Ensembl chr 1:206,228,778...206,231,785
JBrowse link
G Scgb1d4 secretoglobin family 1D member 4 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:206,330,454...206,333,329
Ensembl chr 1:206,330,454...206,333,329
JBrowse link
G Scgb2a1 secretoglobin, family 2A, member 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:206,497,848...206,501,211
Ensembl chr 1:206,497,849...206,501,211
Ensembl chr 1:206,497,849...206,501,211
JBrowse link
G Scyl1 SCY1 like pseudokinase 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:203,045,776...203,059,550
Ensembl chr 1:203,045,741...203,059,533
JBrowse link
G Sdhaf2 succinate dehydrogenase complex assembly factor 2 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:207,139,070...207,167,830
Ensembl chr 1:207,139,112...207,168,616
JBrowse link
G Sf1 splicing factor 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:203,670,016...203,683,432
Ensembl chr 1:203,670,018...203,684,330
JBrowse link
G Sf3b2 splicing factor 3b, subunit 2 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,570,423...202,590,774
Ensembl chr 1:202,570,423...202,590,759
JBrowse link
G Sipa1 signal-induced proliferation-associated 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,938,532...202,950,672
Ensembl chr 1:202,938,580...202,950,591
JBrowse link
G Slc15a3 solute carrier family 15 member 3 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:207,492,365...207,507,158
Ensembl chr 1:207,492,365...207,507,157
JBrowse link
G Slc22a12 solute carrier family 22 member 12 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:203,845,039...203,852,496
Ensembl chr 1:203,845,048...203,853,555
JBrowse link
G Slc22a22 solute carrier family 22 member 22 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 7:88,720,425...88,750,111
Ensembl chr 7:88,720,427...88,750,111
JBrowse link
G Slc22a24 solute carrier family 22, member 24 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:204,910,450...204,965,538
Ensembl chr 1:204,910,455...204,965,538
JBrowse link
G Slc22a25 solute carrier family 22, member 25 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:205,338,698...205,498,486
Ensembl chr 1:205,338,699...205,433,085
JBrowse link
G Slc22a6 solute carrier family 22 member 6 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:205,522,579...205,531,179
Ensembl chr 1:205,522,729...205,531,173
JBrowse link
G Slc22a8 solute carrier family 22 member 8 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:205,496,331...205,516,378
Ensembl chr 1:205,498,084...205,517,450
JBrowse link
G Slc25a45 solute carrier family 25, member 45 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:203,166,362...203,174,473
Ensembl chr 1:203,166,683...203,174,473
JBrowse link
G Slc29a2 solute carrier family 29 member 2 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,327,641...202,335,185
Ensembl chr 1:202,327,354...202,335,171
JBrowse link
G Slc3a2 solute carrier family 3 member 2 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:205,604,468...205,618,931
Ensembl chr 1:205,604,468...205,618,931
JBrowse link
G Snx15 sorting nexin 15 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:203,417,029...203,426,173
Ensembl chr 1:203,417,029...203,426,247
JBrowse link
G Snx32 sorting nexin 32 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,801,090...202,818,731
Ensembl chr 1:202,802,394...202,818,743
JBrowse link
G Spindoc spindlin interactor and repressor of chromatin binding ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:204,541,647...204,565,109
Ensembl chr 1:204,542,335...204,564,144
JBrowse link
G Sptbn2 spectrin, beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,002,970...202,045,343
Ensembl chr 1:202,002,970...202,044,283
JBrowse link
G Ssh3 slingshot protein phosphatase 3 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:201,557,167...201,565,577
Ensembl chr 1:201,557,169...201,564,753
JBrowse link
G Stip1 stress-induced phosphoprotein 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:204,209,434...204,228,452
Ensembl chr 1:204,178,932...204,228,476
JBrowse link
G Stx5 syntaxin 5 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:205,637,401...205,653,563
Ensembl chr 1:205,637,413...205,653,563
JBrowse link
G Syt12 synaptotagmin 12 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:201,729,307...201,760,192
Ensembl chr 1:201,730,371...201,759,609
JBrowse link
G Syt7 synaptotagmin 7 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:207,031,369...207,093,787
Ensembl chr 1:207,031,592...207,089,026
JBrowse link
G Syvn1 synoviolin 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:203,339,235...203,346,137
Ensembl chr 1:203,339,619...203,346,152
JBrowse link
G Taf6l TATA-box binding protein associated factor 6 like ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:205,672,147...205,684,721
Ensembl chr 1:205,672,149...205,684,655
JBrowse link
G Tbc1d10c TBC1 domain family, member 10C ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:201,476,258...201,484,876
Ensembl chr 1:201,477,157...201,564,920
JBrowse link
G Tbx10 T-box transcription factor 10 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:201,285,729...201,292,676
Ensembl chr 1:201,279,829...201,292,601
JBrowse link
G Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:201,127,034...201,138,787
Ensembl chr 1:201,127,034...201,138,742
JBrowse link
G Tesmin testis expressed metallothionein like protein ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:200,629,688...200,648,434
Ensembl chr 1:200,630,144...200,648,433
JBrowse link
G Tigd3 tigger transposable element derived 3 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:203,178,456...203,182,775
Ensembl chr 1:203,178,460...203,181,272
JBrowse link
G Tkfc triokinase and FMN cyclase ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:207,238,230...207,253,035
Ensembl chr 1:207,236,557...207,252,737
JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:203,355,930...203,360,287
Ensembl chr 1:203,355,931...203,360,270
JBrowse link
G Tmem109 transmembrane protein 109 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:207,519,628...207,530,245
Ensembl chr 1:207,519,624...207,530,215
JBrowse link
G Tmem132a transmembrane protein 132A ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:207,507,074...207,518,779
Ensembl chr 1:207,507,077...207,518,758
JBrowse link
G Tmem134 transmembrane protein 134 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:201,419,225...201,424,778
Ensembl chr 1:201,419,264...201,431,411
JBrowse link
G Tmem138 transmembrane protein 138 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:207,219,113...207,226,159 JBrowse link
G Tmem151a transmembrane protein 151A ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,387,397...202,392,243
Ensembl chr 1:202,388,240...202,392,182
JBrowse link
G Tmem179b transmembrane protein 179B ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:205,670,121...205,672,129
Ensembl chr 1:205,666,744...205,672,112
JBrowse link
G Tmem216 transmembrane protein 216 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:207,196,454...207,201,704
Ensembl chr 1:207,196,454...207,201,754
JBrowse link
G Tmem223 transmembrane protein 223 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:205,668,716...205,670,077
Ensembl chr 1:205,662,063...205,670,056
JBrowse link
G Tmem258 transmembrane protein 258 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:206,849,723...206,853,623 JBrowse link
G Trmt112 tRNA methyltransferase activator subunit 11-2 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:204,103,298...204,104,151 JBrowse link
G Trpt1 tRNA phosphotransferase 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:204,186,295...204,191,294
Ensembl chr 1:204,186,295...204,191,294
JBrowse link
G Tsga10ip testis specific 10 interacting protein ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,700,576...202,714,668
Ensembl chr 1:202,700,578...202,714,798
JBrowse link
G Ttc9c tetratricopeptide repeat domain 9C ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:205,701,768...205,712,782
Ensembl chr 1:205,701,768...205,712,773
JBrowse link
G Tut1 terminal uridylyl transferase 1, U6 snRNA-specific ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:205,848,691...205,859,767
Ensembl chr 1:205,848,772...205,859,764
JBrowse link
G Ubxn1 UBX domain protein 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:205,765,212...205,769,236
Ensembl chr 1:205,745,120...205,816,520
JBrowse link
G Unc93b1 unc-93 homolog B1, TLR signaling regulator ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:201,167,388...201,178,343
Ensembl chr 1:201,152,693...201,178,338
JBrowse link
G Uqcc3 ubiquinol-cytochrome c reductase complex assembly factor 3 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:205,773,591...205,774,369
Ensembl chr 1:205,772,780...205,774,376
JBrowse link
G Vegfb vascular endothelial growth factor B ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:204,172,297...204,178,046
Ensembl chr 1:204,172,225...204,177,944
JBrowse link
G Vps37c VPS37C subunit of ESCRT-I ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:207,336,694...207,362,295
Ensembl chr 1:207,336,731...207,362,289
JBrowse link
G Vps51 VPS51 subunit of GARP complex ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:203,360,434...203,370,295
Ensembl chr 1:203,360,440...203,370,430
JBrowse link
G Vwce von Willebrand factor C and EGF domains ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:207,280,714...207,327,215
Ensembl chr 1:207,282,356...207,312,986
JBrowse link
G Wdr74 WD repeat domain 74 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:205,631,769...205,636,563
Ensembl chr 1:205,631,824...205,636,563
JBrowse link
G Yif1a Yip1 interacting factor homolog A, membrane trafficking protein ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,394,923...202,399,125
Ensembl chr 1:202,394,897...202,399,427
JBrowse link
G Zbtb3 zinc finger and BTB domain containing 3 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:205,693,906...205,703,277
Ensembl chr 1:205,686,620...205,704,515
JBrowse link
G Zdhhc24 zinc finger, DHHC-type containing 24 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:202,175,832...202,181,943
Ensembl chr 1:202,175,807...202,182,880
JBrowse link
G Zfpl1 zinc finger protein-like 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:203,374,500...203,378,518
Ensembl chr 1:203,374,504...203,378,487
JBrowse link
G Zfta zinc finger translocation associated ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:204,603,806...204,612,845
Ensembl chr 1:204,604,103...204,612,688
JBrowse link
G Znhit2 zinc finger, HIT-type containing 2 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:203,354,297...203,355,578
Ensembl chr 1:203,354,138...203,355,636
JBrowse link
G Znrd2 zinc ribbon domain containing 2 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:203,017,682...203,019,465
Ensembl chr 1:203,017,682...203,019,465
JBrowse link
G Zp1 zona pellucida glycoprotein 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 ClinVar PMID:28492532 NCBI chr 1:207,560,881...207,567,261
Ensembl chr 1:207,560,881...207,567,261
JBrowse link
Focal Epilepsy with Speech Disorder and with or without Mental Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Dystonia, intellectual disability and language impairment | ClinVar Annotator: match by term: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT OMIM
ClinVar
PMID:7574460 PMID:16199547 PMID:18414213 PMID:20890276 PMID:21559497 More... NCBI chr10:5,630,684...6,043,341
Ensembl chr10:5,631,369...6,044,637
JBrowse link
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:13,241,164...13,306,047
Ensembl chr 3:13,241,217...13,306,046
JBrowse link
frontal lobe epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:12823585 PMID:14996991 PMID:17881519 NCBI chr 3:168,136,246...168,157,839
Ensembl chr 3:168,136,266...168,156,957
JBrowse link
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:14996991 NCBI chr 2:175,181,402...175,189,619
Ensembl chr 2:175,181,402...175,189,619
JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23086396 NCBI chr 3:8,682,964...8,736,615
Ensembl chr 3:8,682,113...8,736,667
JBrowse link
G Slc4a10 solute carrier family 4 member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18413482 NCBI chr 3:46,665,076...46,959,088
Ensembl chr 3:46,665,265...46,957,268
JBrowse link
partial motor epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO ClinVar Annotator: match by term: Focal clonic seizure ClinVar PMID:25741868 NCBI chr 2:175,181,402...175,189,619
Ensembl chr 2:175,181,402...175,189,619
JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Focal clonic seizure ClinVar PMID:25741868 NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292
JBrowse link
ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl13a ADP ribosylation factor like GTPase 13A ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:97,380,370...97,406,704
Ensembl chr  X:97,380,390...97,406,702
JBrowse link
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853
JBrowse link
G Cenpi centromere protein I ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:97,515,919...97,567,671
Ensembl chr  X:97,515,972...97,567,657
JBrowse link
G Cstf2 cleavage stimulation factor subunit 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:97,253,559...97,279,476
Ensembl chr  X:97,253,586...97,279,476
JBrowse link
G Drp2 dystrophin related protein 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:97,607,577...97,658,115
Ensembl chr  X:97,607,719...97,655,684
JBrowse link
G Gla galactosidase, alpha ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664
JBrowse link
G Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:97,780,890...97,786,846
Ensembl chr  X:97,780,785...97,787,041
JBrowse link
G LOC100910714 60S ribosomal protein L36a-like ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr13:4,300,010...4,300,535
Ensembl chr13:4,300,026...4,300,388
JBrowse link
G Nox1 NADPH oxidase 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:97,279,058...97,332,291
Ensembl chr  X:97,279,056...97,302,236
JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:96,767,686...96,873,477
Ensembl chr  X:96,771,947...96,873,524
JBrowse link
G Rpl36a ribosomal protein L36A ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:97,766,179...97,768,892
Ensembl chr  X:97,766,179...97,768,892
JBrowse link
G Srpx2 sushi-repeat-containing protein, X-linked 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked OMIM
ClinVar
PMID:16497722 PMID:18718938 PMID:23352160 PMID:23831613 PMID:23871722 More... NCBI chr  X:97,106,455...97,132,197
Ensembl chr  X:97,106,561...97,132,195
JBrowse link
G Sytl4 synaptotagmin-like 4 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:97,135,500...97,185,867
Ensembl chr  X:97,135,500...97,185,854
JBrowse link
G Taf7l TATA-box binding protein associated factor 7-like ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:97,660,222...97,675,241
Ensembl chr  X:97,660,222...97,675,023
JBrowse link
G Timm8a1 translocase of inner mitochondrial membrane 8A1 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:97,717,932...97,721,918
Ensembl chr  X:97,717,920...97,721,960
JBrowse link
G Tmem35a transmembrane protein 35A ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:97,503,350...97,514,198
Ensembl chr  X:97,503,350...97,514,197
JBrowse link
G Tnmd tenomodulin ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:97,057,137...97,072,634
Ensembl chr  X:97,057,137...97,072,634
JBrowse link
G Trmt2b tRNA methyltransferase 2 homolog B ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:97,425,712...97,483,821 JBrowse link
G Tspan6 tetraspanin 6 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:97,092,394...97,099,659
Ensembl chr  X:97,092,388...97,099,309
JBrowse link
G Xkrx XK related, X-linked ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:97,341,158...97,353,175
Ensembl chr  X:97,341,152...97,354,759
JBrowse link
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant ClinVar PMID:7574460 PMID:16199547 PMID:18414213 PMID:20890276 PMID:21559497 More... NCBI chr10:5,630,684...6,043,341
Ensembl chr10:5,631,369...6,044,637
JBrowse link
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:13,241,164...13,306,047
Ensembl chr 3:13,241,217...13,306,046
JBrowse link
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome OMIM
ClinVar
PMID:10072049 PMID:27281533 PMID:28492532 PMID:30108545 PMID:31112829 More... NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050
JBrowse link
temporal lobe epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A IEP mRNA:increased expression:dentate gyrus (rat) RGD PMID:15380564 RGD:1358367 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
JBrowse link
G Abcb1b ATP-binding cassette, subfamily B (MDR/TAP), member 1B IDA RGD PMID:16928449 RGD:1598560 NCBI chr 4:25,242,761...25,325,194
Ensembl chr 4:25,242,798...25,325,199
JBrowse link
G Actb actin, beta IEP protein:decreased expression:forebrain, postsynaptic density RGD PMID:11226670 RGD:5147998 NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877
JBrowse link
G Add1 adducin 1 IEP protein:decreased expression:forebrain, postsynaptic density RGD PMID:11226670 RGD:5147998 NCBI chr14:76,108,643...76,167,267
Ensembl chr14:76,108,654...76,167,182
JBrowse link
G Adk adenosine kinase IEP
ISO
RGD PMID:21635241 PMID:21635241 RGD:6482302, RGD:6482302 NCBI chr15:2,863,241...3,246,453
Ensembl chr15:2,863,244...3,246,510
JBrowse link
G Agt angiotensinogen IEP RGD PMID:22542773 RGD:8549466 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Ak2 adenylate kinase 2 IEP RGD PMID:22246993 RGD:11100024 NCBI chr 5:141,308,650...141,364,633
Ensembl chr 5:141,346,063...141,364,632
JBrowse link
G Aqp4 aquaporin 4 ISO DNA:SNPs: :multiple (human) RGD PMID:19864112 RGD:5148036 NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
JBrowse link
G Arhgap33 Rho GTPase activating protein 33 ISO protein:increased phosphorylation:hippocampus RGD PMID:30996354 RGD:126848765 NCBI chr 1:85,776,112...85,789,767
Ensembl chr 1:85,776,108...85,789,678
JBrowse link
G Avp arginine vasopressin IDA RGD PMID:12438923 RGD:1579871 NCBI chr 3:117,793,447...117,805,091
Ensembl chr 3:117,793,457...117,795,425
JBrowse link
G Bdkrb1 bradykinin receptor B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15196965 NCBI chr 6:124,510,827...124,514,475
Ensembl chr 6:124,510,870...124,513,747
JBrowse link
G Bdkrb2 bradykinin receptor B2 ISO CTD Direct Evidence: therapeutic CTD PMID:15196965 NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497
JBrowse link
G Cabp1 calcium binding protein 1 IEP protein:altered expression:brain RGD PMID:12941472 RGD:14399955 NCBI chr12:41,385,234...41,448,930
Ensembl chr12:41,378,897...41,448,927
JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A IEP RGD PMID:10448056 RGD:10054441 NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
JBrowse link
G Casp2 caspase 2 disease_progression ISO RGD PMID:17627033 RGD:4107076 NCBI chr 4:71,149,632...71,167,388
Ensembl chr 4:71,149,669...71,167,379
JBrowse link
G Cdc42 cell division cycle 42 IEP RGD PMID:19700661 RGD:5688272 NCBI chr 5:149,555,069...149,593,239
Ensembl chr 5:149,553,724...149,593,111
JBrowse link
G Cnr1 cannabinoid receptor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:20498848 NCBI chr 5:48,408,543...48,436,099
Ensembl chr 5:48,408,574...48,435,099
JBrowse link
G Crh corticotropin releasing hormone IEP mRNA:increased expression:dentate gyrus (rat) RGD PMID:9037416 RGD:5508845 NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919
JBrowse link
G Crhbp corticotropin releasing hormone binding protein IEP mRNA:increased expression:dentate gyrus (rat) RGD PMID:9037416 RGD:5508845 NCBI chr 2:26,692,403...26,704,710
Ensembl chr 2:26,692,403...26,704,710
JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 IMP RGD PMID:28104461 RGD:13463105 NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
JBrowse link
G Cyfip1 cytoplasmic FMR1 interacting protein 1 IEP mRNA, protein:increased expression:hippocampus, cerebral cortex (rat) RGD PMID:26000921 RGD:11568065 NCBI chr 1:106,710,924...106,799,393
Ensembl chr 1:106,711,016...106,799,386
JBrowse link
G Dbn1 drebrin 1 IEP mRNA,protein:altered expression:hippocampus: RGD PMID:21240918 RGD:10398806 NCBI chr17:9,150,608...9,164,982
Ensembl chr17:9,150,659...9,164,984
JBrowse link
G Dcx doublecortin ISO protein:decreased expression:hippocampus RGD PMID:20888264 RGD:12904713 NCBI chr  X:107,430,767...107,573,612
Ensembl chr  X:107,430,767...107,507,476
JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 IEP protein:decreased expression:forebrain, postsynaptic density RGD PMID:11226670 RGD:5147998 NCBI chr10:54,740,700...54,769,097
Ensembl chr10:54,739,470...54,767,153
JBrowse link
G Dtnbp1 dystrobrevin binding protein 1 ISO
IEP
protein:increased expression:temporal cortex
protein:increased expression:cerebral cortex, hippocampus
RGD PMID:22337344 PMID:22337344 RGD:11251761, RGD:11251761 NCBI chr17:19,685,218...19,776,668
Ensembl chr17:19,685,215...19,776,661
JBrowse link
G Foxo3 forkhead box O3 ISO protein:increased expression:hippocampus,mitochondrion: RGD PMID:23278239 RGD:10402198 NCBI chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561
JBrowse link
G Fyn FYN proto-oncogene, Src family tyrosine kinase IEP protein:increased expression:forebrain, postsynaptic density RGD PMID:11226670 RGD:5147998 NCBI chr20:42,767,733...42,960,903
Ensembl chr20:42,766,369...42,959,911
JBrowse link
G Glud1 glutamate dehydrogenase 1 IEP RGD PMID:18381650 RGD:6484554 NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957
JBrowse link
G Glul glutamate-ammonia ligase IDA
ISS
ISO
inhibition results in recurrent seizures
protein:decreased expression, decreased activity:hippocampus (human)
MouseDO
RGD
PMID:18669513 PMID:14723991 RGD:2301554, RGD:2301555 NCBI chr13:65,969,064...66,035,121
Ensembl chr13:66,025,630...66,035,108
JBrowse link
G Grik5 glutamate ionotropic receptor kainate type subunit 5 ISO
IEP
mRNA:increased expression:hippocampus
protein:decreased expression:forebrain, postsynaptic density
RGD PMID:9848088 PMID:11226670 RGD:2316538, RGD:5147998 NCBI chr 1:80,605,878...80,667,896
Ensembl chr 1:80,605,892...80,667,125
JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO mRNA:decreased expression:hippocampus pyramidal layer (human) RGD PMID:9761317 RGD:13432039 NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279
JBrowse link
G Grm1 glutamate metabotropic receptor 1 IEP
ISO
protein:increased expression:forebrain, postsynaptic density
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:15694259 PMID:11226670 RGD:5147998 NCBI chr 1:5,058,285...5,453,170
Ensembl chr 1:5,058,292...5,453,170
JBrowse link
G Grm2 glutamate metabotropic receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18804094 NCBI chr 8:107,280,099...107,293,159
Ensembl chr 8:107,280,099...107,293,146
JBrowse link
G Grm3 glutamate metabotropic receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18804094 NCBI chr 4:24,364,854...24,643,972
Ensembl chr 4:24,365,115...24,609,804
JBrowse link
G Grm4 glutamate metabotropic receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15694259 NCBI chr20:5,484,172...5,572,821
Ensembl chr20:5,481,124...5,572,821
JBrowse link
G Grm5 glutamate metabotropic receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15694259 NCBI chr 1:141,310,069...141,884,980
Ensembl chr 1:141,312,368...141,882,274
JBrowse link
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 IEP
ISO
mRNA:increased expression:hippocampus:
protein:decreased expression:hippocampus:
RGD PMID:12890777 PMID:21905079 PMID:12890777 RGD:9686145, RGD:9686146, RGD:9686145 NCBI chr 2:49,495,771...49,899,702
Ensembl chr 2:49,495,771...49,899,774
JBrowse link
G Hdac2 histone deacetylase 2 ISO protein:increased expression:timporal lobe: RGD PMID:21987499 RGD:9590259 NCBI chr20:40,548,250...40,571,609
Ensembl chr20:40,548,250...40,571,609
JBrowse link
G Kcna1 potassium voltage-gated channel subfamily A member 1 ISS MouseDO NCBI chr 4:159,464,223...159,472,905
Ensembl chr 4:159,464,188...159,472,682
JBrowse link
G Kcnab1 potassium voltage-gated channel subfamily A regulatory beta subunit 1 susceptibility ISO DNA:snps, haplotypes:multiple (human) RGD PMID:21333500 RGD:9743959 NCBI chr 2:149,137,025...149,603,540
Ensembl chr 2:149,137,041...149,603,534
JBrowse link
G Kcnc4 potassium voltage-gated channel subfamily C member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20971086 NCBI chr 2:195,063,967...195,099,233
Ensembl chr 2:195,071,769...195,099,233
JBrowse link
G Kdr kinase insert domain receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17533168 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
JBrowse link
G Map2 microtubule-associated protein 2 IEP protein:decreased expression:brain RGD PMID:22265658 RGD:6483080 NCBI chr 9:67,723,422...67,981,886
Ensembl chr 9:67,723,371...67,979,809
JBrowse link
G Mapt microtubule-associated protein tau ISO RGD PMID:28595035 RGD:13800901 NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129
JBrowse link
G Mbp myelin basic protein IEP protein:decreased expression:hippocampus: RGD PMID:23727401 RGD:7327195 NCBI chr18:75,855,878...75,966,404
Ensembl chr18:75,855,878...75,966,404
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:cerebral cortex RGD PMID:22459050 RGD:8547829 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO CTD Direct Evidence: marker/mechanism CTD PMID:17092649 NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO mRNA:increased expression:brain (mouse) RGD PMID:10581412 RGD:5490286 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
JBrowse link
G Mtor mechanistic target of rapamycin kinase IMP associated with Status Epilepticus RGD PMID:19474323 RGD:10041000 NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
JBrowse link
G Nos1 nitric oxide synthase 1 IEP protein:increased expression:forebrain, postsynaptic density RGD PMID:11226670 RGD:5147998 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
JBrowse link
G Npy neuropeptide Y treatment ISO CTD Direct Evidence: therapeutic CTD
RGD
PMID:15716408 PMID:18477594 RGD:10434563 NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495
JBrowse link
G Npy1r neuropeptide Y receptor Y1 ISO RGD PMID:15337376 RGD:1642609 NCBI chr16:23,037,788...23,047,330
Ensembl chr16:23,037,789...23,046,759
JBrowse link
G Npy2r neuropeptide Y receptor Y2 ISO CTD Direct Evidence: therapeutic CTD
RGD
PMID:15716408 PMID:15337376 RGD:1642609 NCBI chr 2:167,901,999...167,912,165
Ensembl chr 2:167,903,879...167,905,024
JBrowse link
G Nsf N-ethylmaleimide sensitive factor, vesicle fusing ATPase IEP protein:increased expression:forebrain, postsynaptic density RGD PMID:11226670 RGD:5147998 NCBI chr10:88,727,912...88,857,375
Ensembl chr10:88,727,912...88,857,386
JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 IEP protein:increased expression:forebrain, postsynaptic density RGD PMID:11226670 RGD:5147998 NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136
JBrowse link
G P2rx4 purinergic receptor P2X 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19084381 NCBI chr12:33,844,609...33,862,265
Ensembl chr12:33,844,396...33,862,253
JBrowse link
G P2rx7 purinergic receptor P2X 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12121326 PMID:19084381 NCBI chr12:33,889,709...33,934,168
Ensembl chr12:33,879,745...33,934,619
JBrowse link
G Pdyn prodynorphin ISO DNA:repeats:promoter: (human) RGD PMID:11835385 RGD:1358556 NCBI chr 3:116,900,990...116,913,334
Ensembl chr 3:116,900,992...116,913,334
JBrowse link
G Pgf placental growth factor ISO protein:increased expression:temporal cortex RGD PMID:22079325 RGD:6483774 NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
JBrowse link
G Prickle1 prickle planar cell polarity protein 1 treatment IMP protein:increased expression:hippocampus: RGD PMID:21905079 RGD:9686146 NCBI chr 7:124,639,142...124,735,027
Ensembl chr 7:124,639,142...124,658,113
JBrowse link
G Ptprz1 protein tyrosine phosphatase, receptor type Z1 IEP RGD PMID:11292447 RGD:9589829 NCBI chr 4:51,397,316...51,595,220
Ensembl chr 4:51,397,601...51,595,218
JBrowse link
G Rasgrf1 RAS protein-specific guanine nucleotide-releasing factor 1 ISO protein:decreased expression:temporal neocortex (human) RGD PMID:23200899 RGD:10003135 NCBI chr 8:90,445,154...90,574,274
Ensembl chr 8:90,445,154...90,574,269
JBrowse link
G Reln reelin severity ISO mRNA:decreased expression:hippocampus (human)
protein: increased methylation: brain
RGD PMID:12122039 PMID:19287316 RGD:2317926, RGD:13207524 NCBI chr 4:12,736,177...13,162,956
Ensembl chr 4:12,736,130...13,162,211
JBrowse link
G Rgma repulsive guidance molecule BMP co-receptor a IEP protein:decreased expression:CA3 field of hippocampus RGD PMID:25420768 RGD:9850144 NCBI chr 1:127,128,934...127,172,918
Ensembl chr 1:127,128,934...127,172,918
JBrowse link
G Shh sonic hedgehog signaling molecule ISO
IEP
protein:increased expression:temporal cortex
protein:increased expression:hippocampus, temporal cortex
RGD PMID:21376786 PMID:21376786 RGD:12859046, RGD:12859046 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
JBrowse link
G Slc12a2 solute carrier family 12 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19674083 NCBI chr18:51,348,282...51,416,448
Ensembl chr18:51,348,302...51,416,440
JBrowse link
G Slc12a5 solute carrier family 12 member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19674083 NCBI chr 3:153,696,522...153,735,801
Ensembl chr 3:153,696,517...153,735,765
JBrowse link
G Slc1a1 solute carrier family 1 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11906504 NCBI chr 1:226,549,932...226,631,925
Ensembl chr 1:226,549,842...226,630,402
JBrowse link
G Slc32a1 solute carrier family 32 member 1 ISS MouseDO NCBI chr 3:147,267,373...147,271,842
Ensembl chr 3:147,267,373...147,271,844
JBrowse link
G Slc6a1 solute carrier family 6 member 1 IEP protein:decreased expression:hippocampus RGD PMID:15248296 RGD:1643206 NCBI chr 4:147,448,961...147,482,295
Ensembl chr 4:147,466,965...147,482,293
JBrowse link
G Slit2 slit guidance ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20153733 NCBI chr14:62,616,337...62,955,934
Ensembl chr14:62,617,067...62,955,948
JBrowse link
G Tek TEK receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17533168 NCBI chr 5:109,607,077...109,733,805
Ensembl chr 5:109,607,077...109,733,804
JBrowse link
G Trpv1 transient receptor potential cation channel, subfamily V, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20144892 NCBI chr10:57,851,428...57,876,513
Ensembl chr10:57,851,428...57,876,513
JBrowse link
G Vdac2 voltage-dependent anion channel 2 IEP protein:increased expression:hippocampus RGD PMID:18186018 RGD:10003053 NCBI chr15:2,462,877...2,476,802
Ensembl chr15:2,463,056...2,476,553
JBrowse link
G Vdr vitamin D receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18534255 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17533168 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      nervous system disease 13146
        central nervous system disease 11274
          brain disease 10560
            epilepsy 2588
              focal epilepsy 512
                Familial Focal Epilepsy, with Variable Foci 1 4
                Familial Focal Epilepsy, with Variable Foci 2 3
                Familial Focal Epilepsy, with Variable Foci 3 1
                Familial Focal Epilepsy, with Variable Foci 4 1
                Focal Epilepsy with Speech Disorder and with or without Mental Retardation 2
                Partial Epilepsy with Pericentral Spikes 0
                benign epilepsy with centrotemporal spikes + 54
                complex partial epilepsy 1
                frontal lobe epilepsy + 113
                partial motor epilepsy 2
                partial sensory epilepsy + 0
                simple partial epilepsy 0
                temporal lobe epilepsy + 345
paths to the root