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
Accession: DOID:9004342
browse the term
Synonyms: exact_synonym: Familial temporal lobe epilepsy
narrow_synonym: MICAL1-RELATED LATERAL TEMPORAL EPILEPSY
primary_id: MESH:C536956
alt_id: RDO:0002686
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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
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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
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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
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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
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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
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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 PMID:12771268 PMID:14510822 PMID:15079010 PMID:15079011 PMID:15349881 PMID:15660777 PMID:15857855 PMID:17067999 PMID:17296837 PMID:17562837 PMID:17576681 PMID:18625862 PMID:18711109 PMID:19780791 PMID:20659151 PMID:20863412 PMID:21444903 PMID:21504429 PMID:22496201 PMID:24206907 PMID:25485908 PMID:25741868 PMID:26467025 PMID:26773249 PMID:26993267 PMID:27760137 PMID:28492532 PMID:29133209 PMID:29924869 PMID:30284771 PMID:32086284 More...
NCBI chr 1:236,043,269...236,084,617
Ensembl chr 1:236,042,954...236,084,616
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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
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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
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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
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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
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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 PMID:23287318 PMID:24467814 PMID:24828792 PMID:24848745 PMID:25620207 PMID:25648840 PMID:25741868 PMID:26467025 PMID:26544041 PMID:27064498 PMID:27884173 PMID:28419454 PMID:28492532 PMID:28677532 PMID:29056246 PMID:29358611 PMID:29969175 PMID:30190612 PMID:30891068 PMID:31875159 PMID:33004838 PMID:34426522 More...
NCBI chr 4:12,736,177...13,162,956
Ensembl chr 4:12,736,130...13,162,211
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Cpa6
carboxypeptidase A6
ISO
ClinVar Annotator: match by term: Familial temporal lobe epilepsy 2
ClinVar
NCBI chr 5:8,526,708...8,888,492
Ensembl chr 5:8,526,741...8,888,485
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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 PMID:15805193 PMID:17185560 PMID:22296372 PMID:24590840 More...
RGD:11041150
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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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 PMID:26467025 PMID:26648591 PMID:28166811 PMID:28492532 PMID:28761347 PMID:29358611 PMID:32581362 More...
NCBI chr 5:8,526,708...8,888,492
Ensembl chr 5:8,526,741...8,888,485
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Reln
reelin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Familial temporal lobe epilepsy 7
OMIM CTD ClinVar
PMID:10973257 PMID:14515139 PMID:14593429 PMID:18414213 PMID:20697953 PMID:24828792 PMID:25620207 PMID:25741868 PMID:26046367 PMID:26467025 PMID:27884173 PMID:28454995 PMID:28492532 PMID:29358611 PMID:32860008 PMID:33004838 PMID:33453592 PMID:34569441 More...
NCBI chr 4:12,736,177...13,162,956
Ensembl chr 4:12,736,130...13,162,211
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Gal
galanin and GMAP prepropeptide
ISO
ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
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
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