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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 lobe epilepsy 1
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Accession:DOID:0060748 term browser browse the term
Definition:A temporal lobe epilepsy characterized by autosomal dominant inheritance of partial seizures originating from the temporal lobe that are often accompanied by auditory symptoms and that has_material_basis_in heterozygous mutation in the LGI1 gene on chromosome 10q24. (DO)
Synonyms:exact_synonym: ADLTE;   ADPEAF;   AUTOSOMAL DOMINANT EPILEPSY WITH AUDITORY FEATURES;   Autosomal Dominant Lateral Temporal Lobe Epilepsy;   Autosomal dominant partial epilepsy with auditory features;   ETL1;   LGI1-RELATED CONDITION;   partial epilepsy with auditory features
 primary_id: MESH:C537297
 alt_id: OMIM:600512;   RDO:0003114;   RDO:0008760
 xref: NCI:C141441



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: 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
CTD Direct Evidence: marker/mechanism
OMIM:600512
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
CTD
MouseDO
ClinVar
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: 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        Neurologic Manifestations 10039
          sleep disorder 153
            familial temporal lobe epilepsy 1 10
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            epilepsy 2802
              focal epilepsy 370
                temporal lobe epilepsy 89
                  Familial Temporal Epilepsy 13
                    familial temporal lobe epilepsy 1 10
paths to the root