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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
 primary_id: MESH:D003294
 alt_id: RDO:0005271
For additional species annotation, visit the Alliance of Genome Resources.


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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 chr12:13,715,843...13,718,813
Ensembl chr12:13,715,843...13,718,841
JBrowse link
G Ano3 anoctamin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25344690 NCBI chr 3:101,843,516...102,203,368
Ensembl chr 3:101,840,630...102,151,489
JBrowse link
G Avp arginine vasopressin IDA RGD PMID:12438923 RGD:1579871 NCBI chr 3:123,117,482...123,119,460
Ensembl chr 3:123,117,492...123,119,460
JBrowse link
G Casp1 caspase 1 treatment IEP RGD PMID:30947016 RGD:25823138 NCBI chr 8:2,605,743...2,614,637
Ensembl chr 8:2,604,962...2,614,631
JBrowse link
G Casp12 caspase 12 IEP RGD PMID:18675883 RGD:2311454 NCBI chr 8:2,658,892...2,686,160
Ensembl chr 8:2,659,865...2,686,160
JBrowse link
G Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A susceptibility ISO RGD PMID:29223763 RGD:27095962 NCBI chr11:34,858,339...34,958,733
Ensembl chr11:34,865,532...34,956,536
JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25362483 NCBI chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 IEP mRNA:increased expression:hippocampus (rat) RGD PMID:24373994 RGD:13504853 NCBI chr 1:263,246,248...263,269,762
Ensembl chr 1:263,246,248...263,269,762
JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 IEP mRNA:increased expression:hippocampus (rat) RGD PMID:24373994 RGD:13504853 NCBI chr19:9,587,637...9,613,323
Ensembl chr19:9,587,653...9,613,340
JBrowse link
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 IEP RGD PMID:15837575 RGD:9686385 NCBI chr 2:50,099,576...50,499,799
Ensembl chr 2:50,099,576...50,499,799
JBrowse link
G Hcn2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 IEP RGD PMID:15837575 RGD:9686385 NCBI chr 7:12,851,730...12,870,087
Ensembl chr 7:12,851,739...12,874,215
JBrowse link
G Il1b interleukin 1 beta IDA RGD PMID:16393156 RGD:1626672 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO rat model treated with human protein RGD PMID:16393156 RGD:1626672 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Impa2 inositol monophosphatase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15557493 NCBI chr18:63,016,577...63,050,123
Ensembl chr18:63,016,577...63,047,781
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:65,367,812...65,367,921
Ensembl chr  X:65,367,812...65,367,921
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO associated with influenza; protein:increased expression:serum RGD PMID:17529876 RGD:5130920 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Febrile convulsions ClinVar PMID:21520333 PMID:25741868 PMID:28492532 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 treatment IEP RGD PMID:30947016 RGD:25823138 NCBI chr10:45,884,324...45,918,290
Ensembl chr10:45,893,018...45,918,254
JBrowse link
G Npy neuropeptide Y IEP mRNA:increased expression:dentate gyrus (rat) RGD PMID:15800380 RGD:1580179 NCBI chr 4:79,557,856...79,565,059
Ensembl chr 4:79,557,854...79,565,097
JBrowse link
G Nrg1 neuregulin 1 ISO associated with influenza;mRNA:increased expression:blood (human) RGD PMID:16690933 RGD:39456106 NCBI chr16:62,969,573...64,065,063
Ensembl chr16:63,837,216...64,057,434
JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Complex febrile seizures ClinVar PMID:25741868 NCBI chr  X:104,387,346...104,493,914
Ensembl chr  X:104,391,607...104,493,757
JBrowse link
G Prrt2 proline-rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Complex febrile seizures ClinVar PMID:28492532 NCBI chr 1:198,451,042...198,454,998
Ensembl chr 1:198,451,324...198,454,914
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 seizures
DNA:missense mutations:cds:p.E539A,p.N1417H(rat)
CTD
ClinVar
PMID:21480876 PMID:25344690 PMID:25362483, PMID:20410126, PMID:20410126 RGD:12792282, RGD:12792282 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
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 1:89,550,738...89,560,469
Ensembl chr 1:89,550,738...89,560,719
JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25344690 NCBI chr 3:51,687,910...51,822,008
Ensembl chr 3:51,687,809...51,822,250
JBrowse link
G Stx1b syntaxin 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:25362483 NCBI chr 1:199,251,842...199,270,465
Ensembl chr 1:199,251,844...199,270,627
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Febrile seizures ClinVar PMID:23965844 PMID:25741868 PMID:28492532 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link
Childhood Absence Epilepsy 2 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: Epilepsy, childhood absence 2 ClinVar PMID:11326274 PMID:11326275 PMID:11748509 PMID:12097483 PMID:12117362 PMID:12477709 PMID:15342642 PMID:15470132 PMID:15866052 PMID:16510738 PMID:16924025 PMID:17148443 PMID:18094250 PMID:18414213 PMID:18566737 PMID:20485450 PMID:20551311 PMID:21425109 PMID:22190369 PMID:22539854 PMID:22750526 PMID:23708187 PMID:23720301 PMID:23935098 PMID:24407264 PMID:24480790 PMID:24630281 PMID:24811917 PMID:25726841 PMID:25730860 PMID:25731747 PMID:25741868 PMID:26467025 PMID:27066572 PMID:27334371 PMID:27340224 PMID:27367160 PMID:27864268 PMID:27899622 PMID:28460589 PMID:28492532 PMID:29100083 PMID:29358611 PMID:29778030 NCBI chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900
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: Familial Febrile Seizures ClinVar PMID:21698661 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:52,583,953...52,664,209
Ensembl chr 3:52,583,951...52,664,209
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 2:8,926,843...9,504,455
Ensembl chr 2:8,926,850...9,504,134
JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Febrile seizures, familial, 1 ClinVar PMID:25741868 NCBI chr 3:52,583,953...52,664,209
Ensembl chr 3:52,583,951...52,664,209
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: Febrile seizures, familial, 11 OMIM
ClinVar
PMID:21922598 PMID:23105115 PMID:25741868 PMID:26467025 PMID:26648591 PMID:27781031 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 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 PMID:19949041 PMID:21453355 PMID:21561445 PMID:22188362 PMID:22292851 PMID:22591328 PMID:22992668 PMID:23859570 PMID:25155934 PMID:26314341 PMID:26555147 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
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 NCBI chr 3:52,583,953...52,664,209
Ensembl chr 3:52,583,951...52,664,209
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: Febrile seizures, familial, 4
ClinVar Annotator: match by term: CONVULSIONS, FAMILIAL FEBRILE, 4
ClinVar Annotator: match by OMIM:604352
OMIM
ClinVar
PMID:12402266 PMID:14740321 PMID:15671307 PMID:18414213 PMID:22135276 PMID:22334370 PMID:24033266 PMID:24498627 PMID:25741868 PMID:26164827 PMID:26467025 PMID:27575413 PMID:28041643 PMID:28492532 PMID:30180840 NCBI chr 2:8,926,843...9,504,455
Ensembl chr 2:8,926,850...9,504,134
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: Familial febrile seizures 8
ClinVar Annotator: match by term: CONVULSIONS, FAMILIAL FEBRILE, 8
ClinVar
OMIM
PMID:9894880 PMID:11326274 PMID:11326275 PMID:11748509 PMID:12097483 PMID:12117362 PMID:15342642 PMID:15470132 PMID:15866052 PMID:16510738 PMID:16924025 PMID:17148443 PMID:18094250 PMID:23708187 PMID:23935098 PMID:24630281 PMID:25726841 PMID:25730860 PMID:25731747 PMID:25741868 PMID:26467025 PMID:27864268 PMID:28492532 PMID:29100083 PMID:29358611 NCBI chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900
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 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus ClinVar NCBI chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900
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
PMID:24337656 PMID:25741868 PMID:26467025 PMID:28492532, PMID:11823106 RGD:1358571 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
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:5421039 PMID:9461582 PMID:9539778 PMID:9697698 PMID:9894880 PMID:11254444 PMID:11263970 PMID:11866477 PMID:12011299 PMID:12486163 PMID:14504340 PMID:14690046 PMID:15710580 PMID:15857929 PMID:16205844 PMID:17020904 PMID:17928445 PMID:18941776 PMID:20437590 PMID:20628201 PMID:21994374 PMID:22292491 PMID:22425777 PMID:23527921 PMID:23584539 PMID:24065921 PMID:24567321 PMID:24605816 PMID:24623842 PMID:24747835 PMID:25741868 PMID:25827112 PMID:26467025 PMID:27216889 PMID:27277800 PMID:28331474 PMID:28492532 PMID:206282012 NCBI chr 1:89,550,738...89,560,469
Ensembl chr 1:89,550,738...89,560,719
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:21698661 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:52,583,953...52,664,209
Ensembl chr 3:52,583,951...52,664,209
JBrowse link
G Slc32a1 solute carrier family 32 member 1 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus ClinVar NCBI chr 3:155,102,980...155,107,815
Ensembl chr 3:155,103,150...155,107,817
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 null
ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 1
ClinVar PMID:9126059 PMID:10521305 PMID:10742094 PMID:11254444 PMID:11254445 PMID:11524484 PMID:11567038 PMID:11756608 PMID:12086636 PMID:12576172 PMID:12919402 PMID:14672992 PMID:14702334 PMID:16075041 PMID:16525050 PMID:17507202 PMID:17561957 PMID:18076640 PMID:18413471 PMID:18804930 PMID:18930999 PMID:19464195 PMID:20117752 PMID:20522430 PMID:20550552 PMID:20600615 PMID:20729507 PMID:22780858 PMID:23195492 PMID:25348405 PMID:25576396 PMID:25741868 PMID:26096185 PMID:27066544 PMID:28192756 PMID:28492532 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
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
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:5421039 PMID:9461582 PMID:9539778 PMID:9697698 PMID:9894880 PMID:11254444 PMID:11263970 PMID:11866477 PMID:12011299 PMID:12486163 PMID:14504340 PMID:14690046 PMID:15671291 PMID:15710580 PMID:15857929 PMID:16205844 PMID:17020904 PMID:17604911 PMID:17629415 PMID:17928445 PMID:18941776 PMID:19522081 PMID:19808477 PMID:20226894 PMID:20437590 PMID:20628201 PMID:20662403 PMID:21994374 PMID:22155597 PMID:22155598 PMID:22284586 PMID:22292491 PMID:22425777 PMID:22840528 PMID:23414114 PMID:23465283 PMID:23527921 PMID:23584539 PMID:23861362 PMID:24033266 PMID:24065921 PMID:24529773 PMID:24567321 PMID:24605816 PMID:24623842 PMID:24662403 PMID:24747835 PMID:25253298 PMID:25668026 PMID:25741868 PMID:25827112 PMID:26042039 PMID:26467025 PMID:26498160 PMID:27216889 PMID:27277800 PMID:27435932 PMID:27896052 PMID:28218389 PMID:28331474 PMID:28341588 PMID:28492532 PMID:28837624 PMID:29758173 PMID:31465153 PMID:206282012 NCBI chr 1:89,550,738...89,560,469
Ensembl chr 1:89,550,738...89,560,719
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: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 10 OMIM
ClinVar
PMID:25741868 PMID:29936235 PMID:30351409 NCBI chr 2:50,099,576...50,499,799
Ensembl chr 2:50,099,576...50,499,799
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 Scn1a sodium voltage-gated channel alpha subunit 1 ISO DNA:missense mutations:cds:p.T875M, p.R1648H (human)
ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 2
ClinVar Annotator: match by term: GEFS+, TYPE 2
ClinVar Annotator: match by OMIM:604403
ClinVar
OMIM
PMID:9126059 PMID:10486327 PMID:10521305 PMID:10742094 PMID:11118488 PMID:11254444 PMID:11254445 PMID:11359211 PMID:11524484 PMID:11567038 PMID:11756608 PMID:12083760 PMID:12086636 PMID:12566275 PMID:12576172 PMID:12610651 PMID:12754708 PMID:12821740 PMID:14504318 PMID:14702334 PMID:14738421 PMID:15277629 PMID:15508916 PMID:16075041 PMID:16199547 PMID:16326807 PMID:16458823 PMID:16505326 PMID:16541393 PMID:16713913 PMID:16713920 PMID:17054684 PMID:17166794 PMID:17347258 PMID:17561957 PMID:17903680 PMID:18021921 PMID:18056581 PMID:18413471 PMID:18414213 PMID:18804930 PMID:18930999 PMID:19236456 PMID:19359143 PMID:19522081 PMID:19589774 PMID:19673951 PMID:20100831 PMID:20301494 PMID:20431604 PMID:20522430 PMID:20550552 PMID:20729507 PMID:20831750 PMID:20879882 PMID:21248271 PMID:21371021 PMID:21396429 PMID:21713554 PMID:21719429 PMID:21864321 PMID:22011963 PMID:22071555 PMID:22150645 PMID:22151702 PMID:22409937 PMID:22550089 PMID:22612257 PMID:22780858 PMID:22848613 PMID:23195492 PMID:23398550 PMID:23398611 PMID:23527921 PMID:23808377 PMID:23884151 PMID:23934111 PMID:24066114 PMID:24136861 PMID:24168886 PMID:24328833 PMID:24337656 PMID:24464349 PMID:25348405 PMID:25378155 PMID:25741868 PMID:26096185 PMID:26188943 PMID:26467025 PMID:26845707 PMID:26990884 PMID:27231140 PMID:27236449 PMID:27267376 PMID:27465585 PMID:27781031 PMID:27864847 PMID:28148630 PMID:28192756 PMID:28492532 PMID:29100083 PMID:29358611 PMID:29739726 PMID:29760947 PMID:30525188 PMID:30619928 PMID:30659983 PMID:32238909 PMID:32581362, PMID:10742094 RGD:727292 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
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: Generalized epilepsy with febrile seizures plus, type 7
ClinVar Annotator: match by term: GEFS+, TYPE 7
OMIM
ClinVar
PMID:10514109 PMID:10852559 PMID:10852560 PMID:14985375 PMID:15385606 PMID:15955112 PMID:17470132 PMID:18347287 PMID:18414213 PMID:19304393 PMID:19549232 PMID:19763161 PMID:20301342 PMID:22604722 PMID:23129781 PMID:25250524 PMID:25741868 PMID:25993546 PMID:26467025 PMID:26920677 PMID:27504264 PMID:28492532 PMID:29176367 PMID:29911575 PMID:30642272 PMID:31372899 PMID:32581362 NCBI chr 3:52,583,953...52,664,209
Ensembl chr 3:52,583,951...52,664,209
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 Stx1b syntaxin 1B ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 ClinVar
OMIM
PMID:11591834 PMID:18479394 PMID:25362483 PMID:25741868 PMID:26467025 PMID:26818399 PMID:28492532 PMID:30737342 NCBI chr 1:199,251,842...199,270,465
Ensembl chr 1:199,251,844...199,270,627
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 1:199,287,384...199,295,606
Ensembl chr 1:199,287,710...199,294,979
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 1:199,310,935...199,321,231
Ensembl chr 1:199,310,935...199,320,727
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:27864268 PMID:28492532 PMID:29100083 PMID:29358611 NCBI chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900
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 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus type 5 ClinVar PMID:15115768 PMID:16023832 PMID:16256272 PMID:16452673 PMID:17559416 PMID:23216579 PMID:26467025 PMID:28383543 PMID:28492532 NCBI chr 5:172,797,478...172,809,374
Ensembl chr 5:172,797,450...172,809,353
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          brain disease 8405
            epilepsy 1505
              Febrile Seizures 38
                Febrile Seizures Associated with Afebrile Seizures 0
                familial febrile seizures + 5
                generalized epilepsy with febrile seizures plus + 10
paths to the root