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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 chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877 		JBrowse link
G Ano3 anoctamin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25344690 NCBI chr 3:97,235,671...97,550,090
Ensembl chr 3:97,238,354...97,550,154 		JBrowse link
G Arfgef3 ARFGEF family member 3 ISO ClinVar Annotator: match by term: Febrile seizures ClinVar PMID:25741868 NCBI chr 1:13,245,578...13,404,319
Ensembl chr 1:13,244,830...13,404,084 		JBrowse link
G Avp arginine vasopressin IDA RGD PMID:12438923 RGD:1579871 NCBI chr 3:117,793,447...117,805,091
Ensembl chr 3:117,793,457...117,795,425 		JBrowse link
G Casp1 caspase 1 treatment IEP RGD PMID:30947016 RGD:25823138 NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383 		JBrowse link
G Casp12 caspase 12 IEP RGD PMID:18675883 RGD:2311454 NCBI chr 8:2,642,296...2,669,549
Ensembl chr 8:2,642,434...2,674,037 		JBrowse link
G Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A susceptibility ISO RGD PMID:29223763 RGD:27095962 NCBI chr11:33,890,706...34,009,420
Ensembl chr11:33,890,490...34,009,420 		JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25362483 NCBI chr10:26,374,693...26,463,937
Ensembl chr10:26,374,694...26,464,346 		JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 IEP mRNA:increased expression:hippocampus (rat) RGD PMID:24373994 RGD:13504853 NCBI chr 1:242,357,293...242,381,535
Ensembl chr 1:242,357,306...242,380,633 		JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 IEP mRNA:increased expression:hippocampus (rat) RGD PMID:24373994 RGD:13504853 NCBI chr19:9,174,304...9,199,995
Ensembl chr19:9,174,311...9,199,994 		JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Febrile seizures ClinVar PMID:25741868 PMID:27159321 PMID:28492532 PMID:30755392 NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603 		JBrowse link
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 IEP RGD PMID:15837575 RGD:9686385 NCBI chr 2:49,495,771...49,899,983
Ensembl chr 2:49,495,771...49,899,774 		JBrowse link
G Hcn2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 IEP RGD PMID:15837575 RGD:9686385 NCBI chr 7:9,969,801...9,988,839
Ensembl chr 7:9,970,368...9,988,841 		JBrowse link
G Il1b interleukin 1 beta IDA RGD PMID:16393156 RGD:1626672 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO rat model treated with human protein RGD PMID:16393156 RGD:1626672 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Impa2 inositol monophosphatase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15557493 NCBI chr18:60,834,206...60,867,575
Ensembl chr18:60,834,246...60,865,641 		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:61,141,887...61,141,996
Ensembl chr  X:61,141,887...61,141,996 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO associated with influenza; protein:increased expression:serum RGD PMID:17529876 RGD:5130920 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Febrile seizures ClinVar PMID:21520333 PMID:23656349 PMID:25741868 PMID:28492532 PMID:29089047 More... NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658 		JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 treatment IEP RGD PMID:30947016 RGD:25823138 NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811 		JBrowse link
G Npy neuropeptide Y IEP mRNA:increased expression:dentate gyrus (rat) RGD PMID:15800380 RGD:1580179 NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495 		JBrowse link
G Nrg1 neuregulin 1 ISO associated with influenza;mRNA:increased expression:blood (human) RGD PMID:16690933 RGD:39456106 NCBI chr16:59,250,658...60,304,519
Ensembl chr16:59,250,854...60,296,884 		JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Complex febrile seizure ClinVar PMID:25741868 NCBI chr  X:96,767,686...96,873,477
Ensembl chr  X:96,771,947...96,873,524 		JBrowse link
G Prrt2 proline-rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Complex febrile seizure ClinVar PMID:28492532 NCBI chr 1:181,625,243...181,628,833
Ensembl chr 1:181,604,545...181,628,850 		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
RGD		 PMID:21480876 PMID:25344690 PMID:25362483 PMID:20410126 PMID:20410126 RGD:12792282, RGD:12792282 NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699 		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 1:86,353,917...86,363,820
Ensembl chr 1:86,353,917...86,363,739 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Febrile seizures | ClinVar Annotator: match by term: febrile convulsion		 CTD
ClinVar		 PMID:25344690 PMID:25741868 PMID:28492532 NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214 		JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Febrile seizures ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292 		JBrowse link
G Slc30a3 solute carrier family 30 member 3 ISO ClinVar Annotator: match by term: Febrile seizures ClinVar NCBI chr 6:25,264,310...25,284,720
Ensembl chr 6:25,275,528...25,284,720 		JBrowse link
G Stx1b syntaxin 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:25362483 NCBI chr 1:182,415,544...182,434,385
Ensembl chr 1:182,415,546...182,441,280 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Febrile seizures ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591 		JBrowse link
G Unc13a unc-13 homolog A ISO ClinVar Annotator: match by term: febrile convulsion ClinVar PMID:25741868 PMID:28192369 NCBI chr16:18,333,910...18,381,813
Ensembl chr16:18,336,229...18,381,872 		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 Annotator: match by term: GABRG2-Related Disorder ClinVar PMID:9536098 PMID:11326275 PMID:12097483 PMID:12117362 PMID:15342642 More... NCBI chr10:26,374,693...26,463,937
Ensembl chr10:26,374,694...26,464,346 		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 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516 		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 2:11,331,434...11,911,713
Ensembl chr 2:11,331,442...11,911,688 		JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: FEB1 ClinVar PMID:17347258 PMID:18930999 PMID:28492532 NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699 		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 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Febrile seizures, familial, 11		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21922598 PMID:23105115 More... NCBI chr 5:8,526,708...8,888,492
Ensembl chr 5:8,526,741...8,888,485 		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 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		 CTD
OMIM
ClinVar		 PMID:22131395 PMID:24324597 PMID:25741868 PMID:28492532 PMID:29064616 NCBI chr 7:9,969,801...9,988,839
Ensembl chr 7:9,970,368...9,988,841 		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 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699 		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 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516 		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: CONVULSIONS, FAMILIAL FEBRILE, 4 | ClinVar Annotator: match by term: Febrile seizures, familial, 4
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:12402266 PMID:14740321 PMID:15671307 PMID:16199547 PMID:18414213 More... NCBI chr 2:11,331,434...11,911,713
Ensembl chr 2:11,331,442...11,911,688 		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 | ClinVar Annotator: match by term: GABRG2-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:9894880 PMID:11326274 PMID:11326275 PMID:11748509 More... NCBI chr10:26,374,693...26,463,937
Ensembl chr10:26,374,694...26,464,346 		JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Febrile seizures, familial, 8 ClinVar PMID:25326635 PMID:25741868 PMID:25959266 PMID:27864847 PMID:28492532 More... NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071 		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 7:23,329,015...23,738,423
Ensembl chr 7:23,329,070...23,738,434 		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 chr10:26,374,693...26,463,937
Ensembl chr10:26,374,694...26,464,346 		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 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699 		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 1:86,353,917...86,363,820
Ensembl chr 1:86,353,917...86,363,739 		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 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214 		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:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516 		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 3:147,267,373...147,271,842
Ensembl chr 3:147,267,373...147,271,844 		JBrowse link
G Stx1b syntaxin 1B ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus ClinVar NCBI chr 1:182,415,544...182,434,385
Ensembl chr 1:182,415,546...182,441,280 		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 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699 		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 1:86,353,917...86,363,820
Ensembl chr 1:86,353,917...86,363,739 		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 2:49,495,771...49,899,983
Ensembl chr 2:49,495,771...49,899,774 		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: 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:1893099 PMID:9126059 PMID:9536098 PMID:10486327 More... RGD:727292 NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699 		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 Csrnp3 cysteine and serine rich nuclear protein 3 ISO ClinVar Annotator: match by term: GEFS+, TYPE 7 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 3:50,498,379...50,695,598
Ensembl chr 3:50,498,633...50,685,950 		JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: GEFS+, TYPE 7 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 3:50,742,500...50,779,266
Ensembl chr 3:50,742,512...50,766,268 		JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: GEFS+, TYPE 7 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: GEFS+, TYPE 7 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214 		JBrowse link
G Scn3a sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: GEFS+, TYPE 7 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 3:50,146,411...50,258,119
Ensembl chr 3:50,148,139...50,258,119 		JBrowse link
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 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: GEFS+, TYPE 7 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 3:50,861,367...50,935,880
Ensembl chr 3:50,861,367...50,935,903 		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 1:182,277,163...182,324,274
Ensembl chr 1:182,260,164...182,324,163 		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 1:182,197,171...182,216,936
Ensembl chr 1:182,192,947...182,202,338 		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 1:182,328,035...182,336,346
Ensembl chr 1:182,328,090...182,333,335 		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 1:182,356,899...182,380,839
Ensembl chr 1:182,360,830...182,380,083 		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 1:182,412,216...182,415,447
Ensembl chr 1:182,412,151...182,415,442 		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 1:182,381,196...182,386,055
Ensembl chr 1:182,344,293...182,386,052 		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 1:182,184,362...182,197,124
Ensembl chr 1:182,184,650...182,197,124 		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 1:182,202,475...182,217,899
Ensembl chr 1:182,202,600...182,217,241 		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 1:182,386,197...182,411,695
Ensembl chr 1:182,388,060...182,411,090 		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 1:182,123,562...182,172,643
Ensembl chr 1:182,118,416...182,176,610 		JBrowse link
G Stx1b syntaxin 1B ISO ClinVar Annotator: match by term: GEFS+, TYPE 9 | ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11591834 PMID:16199547 PMID:17576681 PMID:25362483 More... NCBI chr 1:182,415,544...182,434,385
Ensembl chr 1:182,415,546...182,441,280 		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 1:182,451,108...182,459,701
Ensembl chr 1:182,451,117...182,459,979 		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 1:182,217,499...182,258,585
Ensembl chr 1:182,210,935...182,230,016 		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 1:182,474,633...182,484,957
Ensembl chr 1:182,474,633...182,492,878 		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 3:147,267,373...147,271,842
Ensembl chr 3:147,267,373...147,271,844 		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 More... NCBI chr10:26,374,693...26,463,937
Ensembl chr10:26,374,694...26,464,346 		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 More... NCBI chr 5:165,958,508...165,970,407
Ensembl chr 5:165,958,484...165,970,411 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        central nervous system disease 12430
          brain disease 11668
            epilepsy 2809
              Febrile Seizures 60
                Febrile Seizures Associated with Afebrile Seizures 0
                familial febrile seizures + 7
                generalized epilepsy with febrile seizures plus + 27
paths to the root