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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:Familial Temporal Epilepsy
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Accession:DOID:9004342 term browser browse the term
Synonyms:exact_synonym: Familial temporal lobe epilepsy
 primary_id: MESH:C536956
 alt_id: RDO:0002686
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
familial temporal lobe epilepsy 1 term browser
Symbol Object Name 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: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:18625862, PMID:18711109, PMID:19191227, PMID:21504429, PMID:22323750, PMID:22496201, PMID:23621105, PMID:24206907, PMID:25485908, PMID:25741868, PMID:26459092, PMID:26467025, PMID:26773249, PMID:26818738, PMID:27760137, PMID:28492532, PMID:30311386 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 CTD 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:30311386, PMID:31134136 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 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 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 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: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 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:30311386, 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 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:25691535, 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 16035
    Developmental Diseases 9546
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8378
        genetic disease 7877
          Familial Temporal Epilepsy 14
            familial temporal lobe epilepsy 1 10
            familial temporal lobe epilepsy 2 1
            familial temporal lobe epilepsy 3 1
            familial temporal lobe epilepsy 4 0
            familial temporal lobe epilepsy 5 1
            familial temporal lobe epilepsy 6 0
            familial temporal lobe epilepsy 7 2
            familial temporal lobe epilepsy 8 1
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      nervous system disease 10903
        central nervous system disease 9050
          brain disease 8375
            epilepsy 1532
              focal epilepsy 156
                temporal lobe epilepsy 86
                  Familial Temporal Epilepsy 14
                    familial temporal lobe epilepsy 1 10
                    familial temporal lobe epilepsy 2 1
                    familial temporal lobe epilepsy 3 1
                    familial temporal lobe epilepsy 4 0
                    familial temporal lobe epilepsy 5 1
                    familial temporal lobe epilepsy 6 0
                    familial temporal lobe epilepsy 7 2
                    familial temporal lobe epilepsy 8 1
paths to the root

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