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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:temporal lobe epilepsy
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Accession:DOID:3328 term browser browse the term
Definition:A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see EPILEPSY, COMPLEX PARTIAL) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion). (From Adams et al., Principles of Neurology, 6th ed, p321)
Synonyms:exact_synonym: Lateral Temporal Epilepsies;   Lateral Temporal Epilepsy;   TLE;   Temporal Lobe Epilepsies;   Uncinate Epilepsies;   childhood benign psychomotor epilepsy;   uncinate epilepsy
 primary_id: MESH:D004833
 alt_id: RDO:0002687
 xref: OMIM:PS600512
For additional species annotation, visit the Alliance of Genome Resources.


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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 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Abcb1b ATP-binding cassette, subfamily B (MDR/TAP), member 1B IDA RGD PMID:16928449 RGD:1598560 NCBI chr 4:22,225,123...22,307,577
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Actb actin, beta IEP protein:decreased expression:forebrain, postsynaptic density RGD PMID:11226670 RGD:5147998 NCBI chr12:13,715,843...13,718,813
Ensembl chr12:13,715,843...13,718,841
JBrowse link
G Add1 adducin 1 IEP protein:decreased expression:forebrain, postsynaptic density RGD PMID:11226670 RGD:5147998 NCBI chr14:81,367,466...81,426,610
Ensembl chr14:81,367,468...81,426,496
JBrowse link
G Adk adenosine kinase IEP
ISO
RGD PMID:21635241, PMID:21635241 RGD:6482302, RGD:6482302 NCBI chr15:3,033,535...3,435,888
Ensembl chr15:3,033,495...3,435,888
JBrowse link
G Agt angiotensinogen IEP RGD PMID:22542773 RGD:8549466 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Ak2 adenylate kinase 2 IEP RGD PMID:22246993 RGD:11100024 NCBI chr 5:147,185,474...147,204,050
Ensembl chr 5:147,185,474...147,204,050
JBrowse link
G Aqp4 aquaporin 4 ISO DNA:SNPs: :multiple (human) RGD PMID:19864112 RGD:5148036 NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
JBrowse link
G Avp arginine vasopressin IDA RGD PMID:12438923 RGD:1579871 NCBI chr 3:123,117,482...123,119,460
Ensembl chr 3:123,117,492...123,119,460
JBrowse link
G Bdkrb1 bradykinin receptor B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15196965 NCBI chr 6:129,437,423...129,441,553
Ensembl chr 6:129,438,158...129,440,574
JBrowse link
G Bdkrb2 bradykinin receptor B2 ISO CTD Direct Evidence: therapeutic CTD PMID:15196965 NCBI chr 6:129,399,468...129,429,676
Ensembl chr 6:129,399,468...129,429,676
JBrowse link
G Cabp1 calcium binding protein 1 IEP protein:altered expression:brain RGD PMID:12941472 RGD:14399955 NCBI chr12:47,185,449...47,209,785
Ensembl chr12:47,179,664...47,209,784
JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A IEP RGD PMID:10448056 RGD:10054441 NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
JBrowse link
G Casp2 caspase 2 disease_progression ISO RGD PMID:17627033 RGD:4107076 NCBI chr 4:71,652,358...71,670,228
Ensembl chr 4:71,652,354...71,670,239
JBrowse link
G Cdc42 cell division cycle 42 IEP RGD PMID:19700661 RGD:5688272 NCBI chr 5:155,690,267...155,728,385
Ensembl chr 5:155,691,390...155,728,300
JBrowse link
G Cnr1 cannabinoid receptor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:20498848 NCBI chr 5:49,307,584...49,333,064
Ensembl chr 5:49,311,030...49,333,056
JBrowse link
G Crh corticotropin releasing hormone IEP mRNA:increased expression:dentate gyrus (rat) RGD PMID:9037416 RGD:5508845 NCBI chr 2:104,459,999...104,461,863
Ensembl chr 2:104,459,999...104,461,863
JBrowse link
G Crhbp corticotropin releasing hormone binding protein IEP mRNA:increased expression:dentate gyrus (rat) RGD PMID:9037416 RGD:5508845 NCBI chr 2:25,141,471...25,153,334
Ensembl chr 2:25,141,471...25,153,334
JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 IMP RGD PMID:28104461 RGD:13463105 NCBI chr13:45,314,952...45,318,856
Ensembl chr13:45,314,933...45,318,878
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 1:114,258,773...114,347,138
Ensembl chr 1:114,258,719...114,347,137
JBrowse link
G Dbn1 drebrin 1 IEP mRNA,protein:altered expression:hippocampus: RGD PMID:21240918 RGD:10398806 NCBI chr17:9,679,511...9,693,878
Ensembl chr17:9,679,628...9,693,820
JBrowse link
G Dcx doublecortin ISO protein:decreased expression:hippocampus RGD PMID:20888264 RGD:12904713 NCBI chr  X:115,098,675...115,175,515
Ensembl chr  X:115,098,675...115,175,299
JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 IEP protein:decreased expression:forebrain, postsynaptic density RGD PMID:11226670 RGD:5147998 NCBI chr10:56,625,845...56,655,543
Ensembl chr10:56,627,411...56,653,599
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 chr17:20,090,136...20,182,332
Ensembl chr17:20,090,246...20,182,206
JBrowse link
G Foxo3 forkhead box O3 ISO protein:increased expression:hippocampus,mitochondrion: RGD PMID:23278239 RGD:10402198 NCBI chr20:46,428,078...46,519,156
Ensembl chr20:46,428,124...46,519,144
JBrowse link
G Fyn FYN proto-oncogene, Src family tyrosine kinase IEP protein:increased expression:forebrain, postsynaptic density RGD PMID:11226670 RGD:5147998 NCBI chr20:44,436,354...44,630,316
Ensembl chr20:44,436,403...44,630,317
JBrowse link
G Glud1 glutamate dehydrogenase 1 IEP RGD PMID:18381650 RGD:6484554 NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
JBrowse link
G Glul glutamate-ammonia ligase IDA
ISS
ISO
inhibition results in recurrent seizures
protein:decreased expression, decreased activity:hippocampus (human)
MouseDO PMID:18669513, PMID:14723991 RGD:2301554, RGD:2301555 NCBI chr13:71,331,052...71,340,207
Ensembl chr13:71,331,052...71,340,229
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 1:81,885,516...81,946,731
Ensembl chr 1:81,885,521...81,946,714
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 4:169,541,620...170,000,216
Ensembl chr 4:169,560,387...169,999,873
JBrowse link
G Grm1 glutamate metabotropic receptor 1 IEP
ISO
protein:increased expression:forebrain, postsynaptic density
CTD Direct Evidence: marker/mechanism
CTD PMID:15694259, PMID:11226670 RGD:5147998 NCBI chr 1:4,753,141...5,165,859
Ensembl chr 1:4,753,144...5,165,859
JBrowse link
G Grm2 glutamate metabotropic receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18804094 NCBI chr 8:115,344,999...115,358,628
Ensembl chr 8:115,344,999...115,358,046
JBrowse link
G Grm3 glutamate metabotropic receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18804094 NCBI chr 4:21,316,761...21,567,561
Ensembl chr 4:21,317,695...21,560,490
JBrowse link
G Grm4 glutamate metabotropic receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15694259 NCBI chr20:6,745,682...6,791,521
Ensembl chr20:6,745,682...6,791,519
JBrowse link
G Grm5 glutamate metabotropic receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15694259 NCBI chr 1:151,207,846...151,785,038
Ensembl chr 1:151,439,409...151,783,392
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 2:50,099,576...50,499,799
Ensembl chr 2:50,099,576...50,499,799
JBrowse link
G Hdac2 histone deacetylase 2 ISO protein:increased expression:timporal lobe: RGD PMID:21987499 RGD:9590259 NCBI chr20:43,084,870...43,108,198
Ensembl chr20:43,084,870...43,108,198
JBrowse link
G Kcna1 potassium voltage-gated channel subfamily A member 1 ISS MouseDO NCBI chr 4:159,190,781...159,192,526
Ensembl chr 4:159,190,804...159,192,526
JBrowse link
G Kcnab1 potassium voltage-gated channel subfamily A member regulatory beta subunit 1 susceptibility ISO DNA:snps, haplotypes:multiple (human) RGD PMID:21333500 RGD:9743959 NCBI chr 2:155,555,798...156,011,438
Ensembl chr 2:155,718,359...156,009,526
JBrowse link
G Kcnc4 potassium voltage-gated channel subfamily C member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20971086 NCBI chr 2:210,220,908...210,241,447
Ensembl chr 2:210,220,908...210,241,455
JBrowse link
G Kdr kinase insert domain receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17533168 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G Map2 microtubule-associated protein 2 IEP protein:decreased expression:brain RGD PMID:22265658 RGD:6483080 NCBI chr 9:73,204,753...73,462,965
Ensembl chr 9:73,319,710...73,462,972
JBrowse link
G Mapt microtubule-associated protein tau ISO RGD PMID:28595035 RGD:13800901 NCBI chr10:92,289,002...92,386,517
Ensembl chr10:92,288,910...92,386,517
JBrowse link
G Mbp myelin basic protein IEP protein:decreased expression:hippocampus: RGD PMID:23727401 RGD:7327195 NCBI chr18:79,326,738...79,437,310
Ensembl chr18:79,326,738...79,437,310
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:cerebral cortex RGD PMID:22459050 RGD:8547829 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
JBrowse link
G Nos1 nitric oxide synthase 1 IEP protein:increased expression:forebrain, postsynaptic density RGD PMID:11226670 RGD:5147998 NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
JBrowse link
G Npy neuropeptide Y treatment ISO CTD Direct Evidence: therapeutic CTD PMID:15716408, PMID:18477594 RGD:10434563 NCBI chr 4:79,557,856...79,565,059
Ensembl chr 4:79,557,854...79,565,097
Ensembl chr 4:79,557,854...79,565,097
JBrowse link
G Npy1r neuropeptide Y receptor Y1 ISO RGD PMID:15337376 RGD:1642609 NCBI chr16:24,779,480...24,789,131
Ensembl chr16:24,779,477...24,788,740
JBrowse link
G Npy2r neuropeptide Y receptor Y2 ISO CTD Direct Evidence: therapeutic CTD PMID:15716408, PMID:15337376 RGD:1642609 NCBI chr 2:181,528,949...181,538,145
Ensembl chr 2:181,530,832...181,531,978
JBrowse link
G Nsf N-ethylmaleimide sensitive factor, vesicle fusing ATPase IEP protein:increased expression:forebrain, postsynaptic density RGD PMID:11226670 RGD:5147998 NCBI chr10:91,879,608...91,986,242
Ensembl chr10:91,878,633...92,008,082
JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 IEP protein:increased expression:forebrain, postsynaptic density RGD PMID:11226670 RGD:5147998 NCBI chr17:5,934,651...6,245,778
Ensembl chr17:5,933,729...6,244,676
JBrowse link
G P2rx4 purinergic receptor P2X 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19084381 NCBI chr12:39,308,022...39,325,673
Ensembl chr12:39,308,025...39,325,673
JBrowse link
G P2rx7 purinergic receptor P2X 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12121326 PMID:19084381 NCBI chr12:39,353,613...39,396,042
Ensembl chr12:39,353,613...39,396,042
JBrowse link
G Pdyn prodynorphin ISO DNA:repeats:promoter: (human) RGD PMID:11835385 RGD:1358556 NCBI chr 3:122,194,327...122,206,671
Ensembl chr 3:122,194,329...122,206,671
JBrowse link
G Pgf placental growth factor ISO protein:increased expression:temporal cortex RGD PMID:22079325 RGD:6483774 NCBI chr 6:108,994,016...109,004,598
Ensembl chr 6:108,994,018...109,004,598
JBrowse link
G Prickle1 prickle planar cell polarity protein 1 treatment IMP protein:increased expression:hippocampus: RGD PMID:21905079 RGD:9686146 NCBI chr 7:134,702,964...134,799,437
Ensembl chr 7:134,702,964...134,722,215
JBrowse link
G Ptprz1 protein tyrosine phosphatase, receptor type Z1 IEP RGD PMID:11292447 RGD:9589829 NCBI chr 4:49,941,046...50,140,764
Ensembl chr 4:49,941,304...50,140,762
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 8:97,277,250...97,405,095
Ensembl chr 8:97,277,456...97,405,102
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 4:9,347,533...9,774,257
Ensembl chr 4:9,347,528...9,773,670
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 1:134,699,053...134,742,512
Ensembl chr 1:134,699,299...134,742,514
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 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link
G Slc12a2 solute carrier family 12 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19674083 NCBI chr18:52,917,124...52,985,281
Ensembl chr18:52,917,124...52,985,261
JBrowse link
G Slc12a5 solute carrier family 12 member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19674083 NCBI chr 3:161,433,303...161,465,078
Ensembl chr 3:161,425,988...161,462,879
JBrowse link
G Slc1a1 solute carrier family 1 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11906504 NCBI chr 1:246,955,017...247,035,159
Ensembl chr 1:246,954,980...247,037,056
JBrowse link
G Slc6a1 solute carrier family 6 member 1 IEP protein:decreased expression:hippocampus RGD PMID:15248296 RGD:1643206 NCBI chr 4:146,258,842...146,292,176
Ensembl chr 4:146,276,862...146,292,213
JBrowse link
G Slit2 slit guidance ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20153733 NCBI chr14:66,831,848...67,171,491
Ensembl chr14:66,831,848...67,170,361
JBrowse link
G Tek TEK receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17533168 NCBI chr 5:113,725,717...113,852,799
Ensembl chr 5:113,725,717...113,852,799
JBrowse link
G Trpv1 transient receptor potential cation channel, subfamily V, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20144892 NCBI chr10:59,799,123...59,824,208
Ensembl chr10:59,799,123...59,824,679
JBrowse link
G Vdac2 voltage-dependent anion channel 2 IEP protein:increased expression:hippocampus RGD PMID:18186018 RGD:10003053 NCBI chr15:2,634,622...2,648,548
Ensembl chr15:2,634,624...2,648,551
JBrowse link
G Vdr vitamin D receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18534255 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17533168 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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: Familial temporal lobe epilepsy 1 ClinVar PMID:28492532 NCBI chr 1:256,745,251...256,760,794
Ensembl chr 1:256,745,288...256,760,796
JBrowse link
G Ffar4 free fatty acid receptor 4 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 1 ClinVar PMID:28492532 NCBI chr 1:256,786,124...256,804,156
Ensembl chr 1:256,786,124...256,804,156
JBrowse link
G Fra10ac1 FRA10A associated CGG repeat 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 1 ClinVar PMID:28492532 NCBI chr 1:256,881,688...256,913,617
Ensembl chr 1:256,881,771...256,914,260
JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 1 ClinVar PMID:25741868 NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990
JBrowse link
G Lgi1 leucine-rich, glioma inactivated 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 1
ClinVar Annotator: match by term: Epilepsy, lateral temporal lobe, autosomal dominant
ClinVar Annotator: match by OMIM:600512
OMIM
ClinVar
PMID:9536098 PMID:11810107 PMID:11978770 PMID:12205652 PMID:12601709 PMID:12771268 PMID:14510822 PMID:15079010 PMID:15079011 PMID:15349881 PMID:15660777 PMID:15857855 PMID:17296837 PMID:17562837 PMID:17576681 PMID:18625862 PMID:18711109 PMID:21504429 PMID:22496201 PMID:24206907 PMID:25485908 PMID:25741868 PMID:26467025 PMID:26773249 PMID:26993267 PMID:28492532 PMID:29133209 NCBI chr 1:256,955,944...256,996,835
Ensembl chr 1:256,955,652...256,999,253
JBrowse link
G Mical1 microtubule associated monooxygenase, calponin and LIM domain containing 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial temporal lobe epilepsy 1
CTD
ClinVar
PMID:25741868 NCBI chr20:46,199,981...46,211,930
Ensembl chr20:46,199,981...46,211,930
JBrowse link
G Myof myoferlin ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 1 ClinVar PMID:28492532 NCBI chr 1:256,585,410...256,734,727
Ensembl chr 1:256,585,410...256,734,730
JBrowse link
G Pde6c phosphodiesterase 6C ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 1 ClinVar PMID:28492532 NCBI chr 1:256,822,099...256,885,879
Ensembl chr 1:256,822,334...256,877,810
JBrowse link
G Rbp4 retinol binding protein 4 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 1 ClinVar PMID:28492532 NCBI chr 1:256,806,476...256,813,678
Ensembl chr 1:256,806,472...256,813,711
JBrowse link
G Reln reelin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial temporal lobe epilepsy 1
ClinVar Annotator: match by term: Epilepsy, lateral temporal lobe, autosomal dominant
CTD
ClinVar
PMID:2564880 PMID:14515139 PMID:18414213 PMID:24467814 PMID:25648840 PMID:25741868 PMID:26046367 PMID:26467025 PMID:28419454 PMID:28492532 PMID:29056246 PMID:29358611 PMID:31134136 PMID:31875159 NCBI chr 4:9,347,533...9,774,257
Ensembl chr 4:9,347,528...9,773,670
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 5:8,215,443...8,574,655
Ensembl chr 5:8,459,660...8,574,655
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 PMID:10716719 PMID:11502320 PMID:12189368 PMID:12686700 PMID:15452305 PMID:15452306 PMID:15805193 PMID:16580900 PMID:16912956 PMID:16912957 PMID:17178268 PMID:17898703 PMID:18334914 PMID:19514130 PMID:20017669 PMID:20707787 PMID:21209234 PMID:21383334 PMID:21902500 PMID:22296372 PMID:22992668 PMID:23632726 PMID:24034787 PMID:24624916 PMID:24703092 PMID:25007187 PMID:25012726 PMID:25303299 PMID:25556837 PMID:25582575 PMID:27399166 PMID:27883323 PMID:28346387 PMID:28379874 PMID:28525903 PMID:29474345, PMID:24590840 RGD:11041150 NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
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: Epilepsy, familial temporal lobe, 5 OMIM
ClinVar
PMID:21922598 PMID:23105115 PMID:25741868 PMID:26467025 PMID:26648591 PMID:28166811 PMID:28492532 PMID:28761347 PMID:29358611 PMID:32581362 NCBI chr 5:8,215,443...8,574,655
Ensembl chr 5:8,459,660...8,574,655
JBrowse link
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: Epilepsy, familial temporal lobe, 7 ClinVar
OMIM
PMID:25741868 PMID:26046367 PMID:28492532 PMID:29358611 PMID:31134136 PMID:32860008 NCBI chr 4:9,347,533...9,774,257
Ensembl chr 4:9,347,528...9,773,670
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 7 ClinVar PMID:15731757 PMID:21267002 PMID:25741868 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
JBrowse link
familial temporal lobe epilepsy 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gal galanin and GMAP prepropeptide ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 8 ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:25691535 PMID:25741868 PMID:28492532 NCBI chr 1:218,653,059...218,657,922
Ensembl chr 1:218,652,917...218,657,925
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        central nervous system disease 10192
          brain disease 9565
            epilepsy 1877
              focal epilepsy 161
                temporal lobe epilepsy 86
                  Familial Temporal Epilepsy + 14
paths to the root