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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 focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes. (DO)
Synonyms:exact_synonym: TLE;   childhood benign psychomotor epilepsy;   lateral temporal epilepsies;   lateral temporal epilepsy;   temporal lobe epilepsies;   uncinate epilepsies;   uncinate epilepsy
 primary_id: MESH:D004833
 xref: EFO:0000773;   NCI:C177244;   OMIM:PS600512
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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, sub-family B 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 Ano4 anoctamin 4 ISO ClinVar Annotator: match by term: Temporal lobe epilepsy ClinVar NCBI chr 7:23,329,015...23,738,423
Ensembl chr 7:23,329,070...23,738,434 		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 Azgp1 alpha-2-glycoprotein 1, zinc-binding ISO protein:decreased expression:brain neuron RGD PMID:28576733 RGD:153350152 NCBI chr12:16,930,990...16,939,333
Ensembl chr12:16,931,024...16,939,091 		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 Fos Fos proto-oncogene, AP-1 transcription factor subunit treatment IEP RGD PMID:33559830 RGD:405650612 NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036 		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 chr13:65,969,053...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...49,899,983
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 chr20:40,548,244...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...195,100,244
Ensembl chr 2:195,071,769...195,099,233 		JBrowse link
G Kcnn4 potassium calcium-activated channel subfamily N member 4 IMP RGD PMID:25016931 RGD:329969891 NCBI chr 1:79,956,380...79,974,354
Ensembl chr 1:79,959,322...79,974,340 		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
NCBI chr MT:8,599...9,382
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
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
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 3:153,696,517...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
Familial Temporal Epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mical1 microtubule associated monooxygenase, calponin and LIM domain containing 1 ISO ClinVar Annotator: match by term: MICAL1-related Lateral temporal epilepsy ClinVar PMID:9536098 PMID:17576681 PMID:28492532 NCBI chr20:44,974,137...44,986,089
Ensembl chr20:44,974,138...44,986,089 		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 chr10:5,629,683...6,053,262
Ensembl chr10:5,631,369...6,044,637 		JBrowse link
G Lgi1 leucine-rich, glioma inactivated 1 ISO
ISS		 ClinVar Annotator: match by term: Autosomal dominant epilepsy with auditory features | ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 | ClinVar Annotator: match by term: LGI1-related condition
OMIM:600512
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:11810107 PMID:11978770 PMID:12205652 PMID:12601709 More... NCBI chr 1:236,043,269...236,084,617
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 PMID:28492532 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 1:235,909,583...235,965,435
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
ClinVar Annotator: match by term: Autosomal dominant epilepsy with auditory features | ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1		 CTD
ClinVar		 PMID:2564880 PMID:14515139 PMID:14593429 PMID:18414213 PMID:20697953 More... NCBI chr 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 PMID:25741868 NCBI chr 5:8,526,708...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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CPA6-related condition | ClinVar Annotator: match by term: Familial temporal lobe epilepsy 5		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:17576681 PMID:21922598 PMID:23105115 PMID:25741868 More... NCBI chr 5:8,526,708...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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10973257 PMID:14515139 PMID:14593429 PMID:18414213 PMID:20697953 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 Gal galanin and GMAP prepropeptide ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:17576681 PMID:25691535 PMID:25741868 PMID:28492532 NCBI chr 1:200,650,439...200,655,302
Ensembl chr 1:200,650,439...200,654,959 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        central nervous system disease 12430
          brain disease 11668
            epilepsy 2809
              focal epilepsy 372
                temporal lobe epilepsy 91
                  Familial Temporal Epilepsy + 13
paths to the root