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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:Febrile Seizures
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Accession:DOID:9007956 term browser browse the term
Definition:Seizures that occur during a febrile episode. It is a common condition, affecting 2-5% of children aged 3 months to five years. An autosomal dominant pattern of inheritance has been identified in some families. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy (i.e., a nonfebrile seizure disorder) following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. (From Menkes, Textbook of Child Neurology, 5th ed, p784)
Synonyms:exact_synonym: COMPLEX FEBRILE SEIZURES;   Febrile Convulsion;   Febrile Convulsion Seizure;   Febrile Convulsion Seizures;   Febrile Convulsions;   Febrile Fit;   Febrile Fits;   Febrile Seizure;   Fever Convulsion;   Fever Convulsions;   Fever Seizure;   Fever Seizures;   Pyrexial Convulsion;   Pyrexial Convulsions;   Pyrexial Seizure;   Pyrexial Seizures;   febrile seizure, complex;   febrile seizure, simple
 narrow_synonym: MMR-related febrile seizures
 primary_id: MESH:D003294
 xref: EFO:0006519


show annotations for term's descendants           Sort by:
Febrile Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actb actin, beta IEP RGD PMID:23237195 RGD:9587751 NCBI chr12:16,776,664...16,779,634
Ensembl chr12:16,776,661...16,780,242 		JBrowse link
G Ano3 anoctamin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25344690 NCBI chr 3:117,690,242...118,004,695
Ensembl chr 3:117,692,103...118,004,675 		JBrowse link
G Arfgef3 ARFGEF family member 3 ISO ClinVar Annotator: match by term: febrile convulsion ClinVar PMID:25741868 NCBI chr 1:15,058,574...15,223,742
Ensembl chr 1:15,058,579...15,223,742 		JBrowse link
G Avp arginine vasopressin IDA RGD PMID:12438923 RGD:1579871 NCBI chr 3:138,246,544...138,248,522
Ensembl chr 3:138,246,554...138,248,522 		JBrowse link
G Casp1 caspase 1 treatment IEP RGD PMID:30947016 RGD:25823138 NCBI chr 8:10,746,338...10,882,295
Ensembl chr 8:10,746,333...10,882,275 		JBrowse link
G Casp12 caspase 12 IEP RGD PMID:18675883 RGD:2311454 NCBI chr 8:10,927,188...10,954,442
Ensembl chr 8:10,926,994...10,954,442 		JBrowse link
G Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A susceptibility ISO RGD PMID:29223763 RGD:27095962 NCBI chr11:47,360,824...47,479,033
Ensembl chr11:47,360,850...47,479,033 		JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25362483 NCBI chr10:26,876,926...26,965,523
Ensembl chr10:26,876,926...26,965,523 		JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 IEP mRNA:increased expression:hippocampus (rat) RGD PMID:24373994 RGD:13504853 NCBI chr 1:252,306,541...252,337,622
Ensembl chr 1:252,284,434...252,329,871 		JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 IEP mRNA:increased expression:hippocampus (rat) RGD PMID:24373994 RGD:13504853 NCBI chr19:9,180,428...9,206,113
Ensembl chr19:9,180,431...9,206,111 		JBrowse link
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 IEP RGD PMID:15837575 RGD:9686385 NCBI chr 2:51,228,710...51,632,806
Ensembl chr 2:51,228,710...51,632,806 		JBrowse link
G Hcn2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 IEP RGD PMID:15837575 RGD:9686385 NCBI chr 7:10,620,422...10,639,457
Ensembl chr 7:10,620,422...10,639,457 		JBrowse link
G Il1b interleukin 1 beta IDA RGD PMID:16393156 RGD:1626672 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO rat model treated with human protein RGD PMID:16393156 RGD:1626672 NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:27,509,798...27,525,732 		JBrowse link
G Impa2 inositol monophosphatase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15557493 NCBI chr18:63,104,113...63,135,232
Ensembl chr18:63,104,083...63,137,543 		JBrowse link
G Mir223 microRNA 223 treatment IEP
IDA 		RNA:decreased expression:hippocampus: RGD PMID:30947016 PMID:30947016 RGD:25823138, RGD:25823138 NCBI chr  X:65,151,383...65,151,492
Ensembl chr  X:65,151,383...65,151,492 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO associated with influenza; protein:increased expression:serum RGD PMID:17529876 RGD:5130920 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:174,084,123...174,111,442 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: febrile convulsion ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29089047 PMID:33471991 NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,804,266...65,034,946 		JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 treatment IEP RGD PMID:30947016 RGD:25823138 NCBI chr10:44,826,299...44,853,373
Ensembl chr10:44,828,014...44,853,394 		JBrowse link
G Npy neuropeptide Y IEP mRNA:increased expression:dentate gyrus (rat) RGD PMID:15800380 RGD:1580179 NCBI chr 4:80,212,111...80,219,310
Ensembl chr 4:80,212,111...80,219,310 		JBrowse link
G Nrg1 neuregulin 1 ISO associated with influenza;mRNA:increased expression:blood (human) RGD PMID:16690933 RGD:39456106 NCBI chr16:65,954,084...67,007,484
Ensembl chr16:65,953,865...66,999,849 		JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Complex febrile seizure ClinVar PMID:25741868 NCBI chr  X:101,061,002...101,166,777
Ensembl chr  X:101,065,263...101,165,269 		JBrowse link
G Prrt2 proline-rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Complex febrile seizure ClinVar PMID:28492532 NCBI chr 1:191,054,962...191,059,632
Ensembl chr 1:191,053,050...191,059,414 		JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 susceptibility ISO
IMP 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: febrile convulsion
DNA:missense mutations:cds:p.E539A,p.N1417H(rat) 		CTD
ClinVar
RGD		 PMID:21480876 PMID:25344690 PMID:25362483 PMID:20410126 PMID:20410126 RGD:12792282, RGD:12792282 NCBI chr 3:71,360,840...71,479,870
Ensembl chr 3:71,360,841...71,479,791 		JBrowse link
G Scn1am1Kyo sodium voltage-gated channel alpha subunit 1; ENU induced mutant1, Kyo IMP RGD PMID:20410126 RGD:12792282
G Scn1am2Kyo sodium voltage-gated channel alpha subunit 1; ENU induced mutant2, Kyo IMP RGD PMID:20410126 RGD:12792282
G Scn1b sodium voltage-gated channel beta subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25362483 NCBI chr 1:95,481,298...95,491,211
Ensembl chr 1:95,481,298...95,491,197 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: febrile convulsion 		CTD
ClinVar		 PMID:25344690 PMID:25741868 PMID:28492532 NCBI chr 3:70,710,862...70,845,569
Ensembl chr 3:70,710,954...70,845,279 		JBrowse link
G Slc30a3 solute carrier family 30 member 3 ISO ClinVar Annotator: match by term: febrile convulsion ClinVar NCBI chr 6:30,984,241...31,004,689
Ensembl chr 6:30,984,276...31,005,120 		JBrowse link
G Stx1b syntaxin 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:25362483 NCBI chr 1:191,846,016...191,864,878
Ensembl chr 1:191,833,743...191,871,633 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: febrile convulsion ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:159,837,032...159,849,816 		JBrowse link
G Unc13a unc-13 homolog A ISO ClinVar Annotator: match by term: febrile convulsion ClinVar PMID:25741868 PMID:28192369 NCBI chr16:18,367,891...18,415,808
Ensembl chr16:18,367,919...18,415,899 		JBrowse link
Childhood Absence Epilepsy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 ISO ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 ClinVar PMID:16718694 PMID:22190369 PMID:22539854 PMID:22750526 PMID:24407264 More... NCBI chr10:27,096,731...27,152,563
Ensembl chr10:27,096,740...27,152,442 		JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: GABRG2-related disorder ClinVar PMID:9536098 PMID:11326275 PMID:11748509 PMID:12097483 PMID:12117362 More... NCBI chr10:26,876,926...26,965,523
Ensembl chr10:26,876,926...26,965,523 		JBrowse link
familial febrile seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Febrile seizures, familial ClinVar PMID:21698661 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:71,553,185...71,701,377
Ensembl chr 3:71,553,189...71,701,377 		JBrowse link
familial febrile seizures 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Febrile seizures, familial, 1 ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:13,067,149...13,647,407
Ensembl chr 2:13,067,150...13,647,372 		JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Febrile seizures, familial, 1 ClinVar PMID:25741868 PMID:28492532 PMID:31394368 NCBI chr 3:71,553,185...71,701,377
Ensembl chr 3:71,553,189...71,701,377 		JBrowse link
familial febrile seizures 11 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: CONVULSIONS, FAMILIAL FEBRILE, 11 | ClinVar Annotator: match by term: Febrile seizures, familial, 11 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21922598 PMID:23105115 More... NCBI chr 5:13,309,660...13,671,429
Ensembl chr 5:13,309,660...13,671,429 		JBrowse link
familial febrile seizures 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hcn2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 17 | ClinVar Annotator: match by term: Febrile seizures, familial, 2 | ClinVar Annotator: match by term: HCN2 related developmental and epileptic encephalopathy | ClinVar Annotator: match by term: HCN2-related condition 		CTD
OMIM
ClinVar		 PMID:22131395 PMID:24033266 PMID:24324597 PMID:25741868 PMID:28492532 More... NCBI chr 7:10,620,422...10,639,457
Ensembl chr 7:10,620,422...10,639,457 		JBrowse link
Familial Febrile Seizures 3A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Febrile seizures, familial, 3a ClinVar PMID:15805193 PMID:16326807 PMID:17001291 PMID:17436242 PMID:19289736 More... NCBI chr 3:71,360,840...71,479,870
Ensembl chr 3:71,360,841...71,479,791 		JBrowse link
Familial Febrile Seizures 3B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Febrile seizures, familial, 3b ClinVar PMID:19763161 PMID:25741868 PMID:28492532 PMID:33216760 NCBI chr 3:71,553,185...71,701,377
Ensembl chr 3:71,553,189...71,701,377 		JBrowse link
familial febrile seizures 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: ADGRV1-related disorder | ClinVar Annotator: match by term: CONVULSIONS, FAMILIAL FEBRILE, 4 | ClinVar Annotator: match by term: Febrile seizures, familial, 4
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:3442652 PMID:9536098 PMID:12402266 PMID:14740321 PMID:15671307 More... NCBI chr 2:13,067,149...13,647,407
Ensembl chr 2:13,067,150...13,647,372 		JBrowse link
familial febrile seizures 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO ClinVar Annotator: match by term: CONVULSIONS, FAMILIAL FEBRILE, 8 | ClinVar Annotator: match by term: Febrile seizures, familial, 8 OMIM
ClinVar		 PMID:9536098 PMID:9894880 PMID:11326274 PMID:11326275 PMID:11748509 More... NCBI chr10:26,876,926...26,965,523
Ensembl chr10:26,876,926...26,965,523 		JBrowse link
generalized epilepsy with febrile seizures plus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ano4 anoctamin 4 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus ClinVar PMID:25741868 NCBI chr 7:25,216,389...25,625,811
Ensembl chr 7:25,216,389...25,625,746 		JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO
ISS 		ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus ClinVar
MouseDO		 NCBI chr10:26,876,926...26,965,523
Ensembl chr10:26,876,926...26,965,523 		JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO
ISS 		DNA:missense mutation:cds:p.V1417A (human)
ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus
OMIM:604233 | OMIM:604403 | OMIM:609800 | OMIM:611277 | OMIM:612279 | OMIM:613828 | OMIM:613863 		ClinVar
MouseDO
RGD		 PMID:24337656 PMID:25741868 PMID:26467025 PMID:27781031 PMID:28492532 More... RGD:1358571 NCBI chr 3:71,360,840...71,479,870
Ensembl chr 3:71,360,841...71,479,791 		JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISS
ISO 		OMIM:604233 | OMIM:604403 | OMIM:609800 | OMIM:611277 | OMIM:612279 | OMIM:613828 | OMIM:613863
ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus 		MouseDO
ClinVar		 PMID:9461582 PMID:9539778 PMID:9697698 PMID:9894880 PMID:11254444 More... NCBI chr 1:95,481,298...95,491,211
Ensembl chr 1:95,481,298...95,491,197 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus ClinVar NCBI chr 3:70,710,862...70,845,569
Ensembl chr 3:70,710,954...70,845,279 		JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus ClinVar PMID:20478850 PMID:21698661 PMID:23232607 PMID:25741868 PMID:25995458 More... NCBI chr 3:71,553,185...71,701,377
Ensembl chr 3:71,553,189...71,701,377 		JBrowse link
G Slc32a1 solute carrier family 32 member 1 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus ClinVar PMID:28842445 PMID:34038384 NCBI chr 3:167,687,245...167,691,714
Ensembl chr 3:167,687,098...167,691,731 		JBrowse link
G Stx1b syntaxin 1B ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus ClinVar NCBI chr 1:191,846,016...191,864,878
Ensembl chr 1:191,833,743...191,871,633 		JBrowse link
generalized epilepsy with febrile seizures plus 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 1 ClinVar PMID:9126059 PMID:10521305 PMID:10742094 PMID:11254444 PMID:11254445 More... NCBI chr 3:71,360,840...71,479,870
Ensembl chr 3:71,360,841...71,479,791 		JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 1
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9461582 PMID:9539778 PMID:9697698 PMID:9894880 PMID:11254444 More... NCBI chr 1:95,481,298...95,491,211
Ensembl chr 1:95,481,298...95,491,197 		JBrowse link
generalized epilepsy with febrile seizures plus 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 ISO ClinVar Annotator: match by term: GEFS+, TYPE 10 | ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 10 OMIM
ClinVar		 PMID:24747641 PMID:25678871 PMID:25741868 PMID:26073591 PMID:26467025 More... NCBI chr 2:51,228,710...51,632,806
Ensembl chr 2:51,228,710...51,632,806 		JBrowse link
generalized epilepsy with febrile seizures plus 2 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: Generalized epilepsy with febrile seizures plus, type 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:13,628,440...14,055,201
Ensembl chr 4:13,628,399...14,055,162 		JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO DNA:missense mutations:cds:p.T875M, p.R1648H (human)
ClinVar Annotator: match by term: GEFS+, TYPE 2 | ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 2
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM
RGD		 PMID:1893009 PMID:9126059 PMID:9536098 PMID:10486327 PMID:10521305 More... RGD:727292 NCBI chr 3:71,360,840...71,479,870
Ensembl chr 3:71,360,841...71,479,791 		JBrowse link
generalized epilepsy with febrile seizures plus 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: GEFS+, TYPE 7 | ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 7 ClinVar PMID:9536098 PMID:10514109 PMID:10852559 PMID:10852560 PMID:14985375 More... NCBI chr 3:71,553,185...71,701,377
Ensembl chr 3:71,553,189...71,701,377 		JBrowse link
generalized epilepsy with febrile seizures plus 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl7c BAF chromatin remodeling complex subunit BCL7C ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 ClinVar PMID:28492532 NCBI chr 1:191,703,432...191,754,751
Ensembl chr 1:191,691,089...191,754,641 		JBrowse link
G Cfap119 cilia and flagella associated protein 119 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 ClinVar PMID:28492532 NCBI chr 1:191,627,662...191,647,429
Ensembl chr 1:191,623,673...191,632,829 		JBrowse link
G Ctf1 cardiotrophin 1 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 ClinVar PMID:28492532 NCBI chr 1:191,758,512...191,771,259
Ensembl chr 1:191,757,477...191,776,395 		JBrowse link
G Fbxl19 F-box and leucine-rich repeat protein 19 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 ClinVar PMID:28492532 NCBI chr 1:191,786,981...191,811,314
Ensembl chr 1:191,789,428...191,811,314 		JBrowse link
G Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 ClinVar PMID:25362483 PMID:25741868 PMID:26818399 PMID:28492532 PMID:31273778 NCBI chr 1:191,842,688...191,845,919
Ensembl chr 1:191,842,636...191,845,921 		JBrowse link
G Orai3 ORAI calcium release-activated calcium modulator 3 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 ClinVar PMID:28492532 NCBI chr 1:191,811,671...191,816,530
Ensembl chr 1:191,811,424...191,816,530 		JBrowse link
G Phkg2 phosphorylase kinase catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 ClinVar PMID:28492532 NCBI chr 1:191,614,738...191,627,615
Ensembl chr 1:191,614,865...191,627,616 		JBrowse link
G Rnf40 ring finger protein 40 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 ClinVar PMID:28492532 NCBI chr 1:191,632,988...191,649,231
Ensembl chr 1:191,633,034...191,648,421 		JBrowse link
G Setd1a SET domain containing 1A, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 ClinVar PMID:28492532 NCBI chr 1:191,818,752...191,842,167
Ensembl chr 1:191,818,752...191,842,160 		JBrowse link
G Srcap Snf2-related CREBBP activator protein ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 ClinVar PMID:28492532 NCBI chr 1:191,554,043...191,607,096
Ensembl chr 1:191,554,043...191,604,265 		JBrowse link
G Stx1b syntaxin 1B ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 | ClinVar Annotator: match by term: STX1B-related condition OMIM
ClinVar		 PMID:9536098 PMID:11591834 PMID:16199547 PMID:17576681 PMID:25362483 More... NCBI chr 1:191,846,016...191,864,878
Ensembl chr 1:191,833,743...191,871,633 		JBrowse link
G Stx4 syntaxin 4 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 ClinVar PMID:25362483 PMID:26818399 PMID:28492532 NCBI chr 1:191,880,549...191,890,333
Ensembl chr 1:191,881,559...191,896,774 		JBrowse link
G Zfp629 zinc finger protein 629 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 ClinVar PMID:28492532 NCBI chr 1:191,648,753...191,689,082
Ensembl chr 1:191,639,332...191,663,832 		JBrowse link
G Zfp668 zinc finger protein 668 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 ClinVar PMID:25362483 PMID:26818399 PMID:28492532 NCBI chr 1:191,905,112...191,915,436
Ensembl chr 1:191,905,112...191,914,997 		JBrowse link
Generalized Epilepsy with Febrile Seizures Plus, Type 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc32a1 solute carrier family 32 member 1 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 12 OMIM
ClinVar		 PMID:25741868 PMID:28842445 PMID:34038384 PMID:36073542 NCBI chr 3:167,687,245...167,691,714
Ensembl chr 3:167,687,098...167,691,731 		JBrowse link
Generalized Epilepsy with Febrile Seizures Plus, Type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO ClinVar Annotator: match by term: GEFS+, TYPE 3 ClinVar PMID:23708187 PMID:25726841 PMID:25730860 PMID:25741868 PMID:27864268 More... NCBI chr10:26,876,926...26,965,523
Ensembl chr10:26,876,926...26,965,523 		JBrowse link
Generalized Epilepsy with Febrile Seizures Plus, Type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabrd gamma-aminobutyric acid type A receptor subunit delta susceptibility ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 10 | ClinVar Annotator: match by term: GABRD-related condition | ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus type 5 OMIM
ClinVar		 PMID:15115768 PMID:16023832 PMID:16256272 PMID:16452673 PMID:17559416 More... NCBI chr 5:171,240,813...171,252,709
Ensembl chr 5:171,240,789...171,253,094 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            epilepsy 2950
              Febrile Seizures 55
                Febrile Seizures Associated with Afebrile Seizures 0
                familial febrile seizures + 7
                generalized epilepsy with febrile seizures plus + 24
paths to the root