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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:benign familial infantile epilepsy
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Accession:DOID:0060169 term browser browse the term
Definition:An infancy electroclinical syndrome that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae. (DO)
Synonyms:exact_synonym: BFIC;   BFIE;   benign familial infantile convulsion;   benign familial infantile convulsions;   benign familial infantile convulsions syndrome;   benign familial infantile seizures
 xref: GARD:1518;   GARD:857;   MIM:PS601764;   NCI:C183308;   ORDO:306

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benign familial infantile epilepsy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jmjd1c jumonji domain containing 1C ISO ClinVar Annotator: match by term: Benign familial infantile epilepsy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936753:1,413,935...1,645,974
Ensembl chrNW_004936753:1,414,240...1,645,161 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Benign familial infantile convulsions syndrome | ClinVar Annotator: match by term: Benign familial infantile epilepsy | ClinVar Annotator: match by term: Benign infantile familial convulsions ClinVar PMID:11326335 PMID:15048894 PMID:17021166 PMID:18479388 PMID:23360469 More... NCBI chrNW_004936469:13,872,701...14,019,170
Ensembl chrNW_004936469:13,872,701...13,971,005 		JBrowse link
autosomal dominant nocturnal frontal lobe epilepsy 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna2 cholinergic receptor nicotinic alpha 2 subunit ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 4 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, type 4 OMIM
ClinVar		 PMID:9536098 PMID:16222669 PMID:16826524 PMID:17576681 PMID:18414213 More... NCBI chrNW_004936675:327,501...334,493
Ensembl chrNW_004936675:327,501...334,581 		JBrowse link
benign familial infantile seizures 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Seizures, benign familial infantile, 1 ClinVar PMID:37578743 NCBI chrNW_004936469:13,872,701...14,019,170
Ensembl chrNW_004936469:13,872,701...13,971,005 		JBrowse link
benign familial infantile seizures 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prrt2 proline rich transmembrane protein 2 ISO ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 2 | ClinVar Annotator: match by term: Seizures, benign familial infantile, 2 OMIM
ClinVar		 PMID:2131349 PMID:9579893 PMID:11179027 PMID:11346027 PMID:12953268 More... NCBI chrNW_004936501:12,660,181...12,663,788
Ensembl chrNW_004936501:12,659,905...12,663,110 		JBrowse link
benign familial infantile seizures 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar NCBI chrNW_004936740:489,357...514,235
Ensembl chrNW_004936740:488,154...514,308 		JBrowse link
G Csrnp3 cysteine and serine rich nuclear protein 3 ISO ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004936469:13,628,830...13,808,970
Ensembl chrNW_004936469:13,631,182...13,770,257 		JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004936469:13,538,349...13,576,608
Ensembl chrNW_004936469:13,538,258...13,576,657 		JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004936469:13,194,769...13,345,979
Ensembl chrNW_004936469:13,256,925...13,345,978 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3 | ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 OMIM
ClinVar		 PMID:2635020 PMID:3508699 PMID:6660252 PMID:9536098 PMID:11326335 More... NCBI chrNW_004936469:13,872,701...14,019,170
Ensembl chrNW_004936469:13,872,701...13,971,005 		JBrowse link
G Scn3a sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004936469:14,072,182...14,180,552
Ensembl chrNW_004936469:14,101,868...14,179,998 		JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004936469:13,063,971...13,153,030
Ensembl chrNW_004936469:13,064,043...13,152,974 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004936469:13,365,168...13,454,340
Ensembl chrNW_004936469:13,365,087...13,454,340 		JBrowse link
benign familial infantile seizures 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 ISO ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 5 ClinVar PMID:23020937 PMID:23934111 PMID:24851285 PMID:25740509 PMID:25741868 More... NCBI chrNW_004936470:16,712,508...17,009,648
Ensembl chrNW_004936470:16,712,703...17,009,397 		JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 5 | ClinVar Annotator: match by term: Seizures, benign familial infantile, 5 OMIM
ClinVar		 PMID:9536098 PMID:12374766 PMID:17576681 PMID:17881658 PMID:18414213 More... NCBI chrNW_004936512:9,164,310...9,281,795
Ensembl chrNW_004936512:9,164,262...9,279,688 		JBrowse link
benign familial infantile seizures 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd16b abhydrolase domain containing 16B ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004936514:11,068,762...11,070,162
Ensembl chrNW_004936514:11,068,762...11,070,162 		JBrowse link
G Adar adenosine deaminase RNA specific ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chrNW_004936580:4,183,016...4,208,341
Ensembl chrNW_004936580:4,183,079...4,203,435 		JBrowse link
G Arfgap1 ARF GTPase activating protein 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chrNW_004936514:10,627,700...10,641,157
Ensembl chrNW_004936514:10,627,639...10,640,869 		JBrowse link
G Arfrp1 ADP ribosylation factor related protein 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004936514:10,956,111...10,964,756
Ensembl chrNW_004936514:10,955,829...10,964,762 		JBrowse link
G Birc7 baculoviral IAP repeat containing 7 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chrNW_004936514:10,618,347...10,622,906
Ensembl chrNW_004936514:10,618,289...10,622,931 		JBrowse link
G Ccdc25 coiled-coil domain containing 25 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chrNW_004936675:626,572...666,632
Ensembl chrNW_004936675:626,587...666,425 		JBrowse link
G Chrna2 cholinergic receptor nicotinic alpha 2 subunit ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy | ClinVar Annotator: match by term: Seizures, benign familial infantile, 6 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16826524 PMID:17576681 PMID:18414213 More... NCBI chrNW_004936675:327,501...334,493
Ensembl chrNW_004936675:327,501...334,581 		JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:3089211 PMID:7476881 PMID:7550350 PMID:7647781 PMID:8696332 More... NCBI chrNW_004936514:10,680,893...10,695,859
Ensembl chrNW_004936514:10,680,859...10,695,865 		JBrowse link
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:9536098 PMID:11062464 PMID:11104662 PMID:11906688 PMID:16199547 More... NCBI chrNW_004936580:4,165,255...4,179,285
Ensembl chrNW_004936580:4,166,619...4,186,443 		JBrowse link
G Clu clusterin ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chrNW_004936675:499,745...513,515
Ensembl chrNW_004936675:499,199...513,836 		JBrowse link
G Col20a1 collagen type XX alpha 1 chain ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chrNW_004936514:10,642,919...10,674,393
Ensembl chrNW_004936514:10,645,429...10,672,975 		JBrowse link
G Col9a3 collagen type IX alpha 3 chain ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chrNW_004936514:10,319,187...10,340,921 JBrowse link
G Crh corticotropin releasing hormone ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:23086396 PMID:23593457 PMID:24395520 PMID:25741868 NCBI chrNW_004936496:7,759,656...7,761,555
Ensembl chrNW_004936496:7,760,532...7,761,122 		JBrowse link
G Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24283814 PMID:25366275 PMID:25741868 PMID:28492532 PMID:28549235 More... NCBI chrNW_004936755:871,935...1,024,538
Ensembl chrNW_004936755:872,815...1,024,057 		JBrowse link
G Dido1 death inducer-obliterator 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chrNW_004936514:10,370,961...10,422,484
Ensembl chrNW_004936514:10,370,959...10,403,889 		JBrowse link
G Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004936514:11,131,666...11,139,404
Ensembl chrNW_004936514:11,131,074...11,139,446 		JBrowse link
G Eef1a2 eukaryotic translation elongation factor 1 alpha 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 More... NCBI chrNW_004936514:10,799,002...10,807,132
Ensembl chrNW_004936514:10,798,671...10,807,132 		JBrowse link
G Elp3 elongator acetyltransferase complex subunit 3 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chrNW_004936675:933,698...1,014,919
Ensembl chrNW_004936675:933,676...1,016,242 		JBrowse link
G Ephx2 epoxide hydrolase 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chrNW_004936675:350,357...392,919
Ensembl chrNW_004936675:350,342...392,551 		JBrowse link
G Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chrNW_004936675:670,915...697,696
Ensembl chrNW_004936675:670,915...697,668 		JBrowse link
G Extl3 exostosin like glycosyltransferase 3 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chrNW_004936675:1,448,381...1,479,735
Ensembl chrNW_004936675:1,448,366...1,477,216 		JBrowse link
G Fbxo16 F-box protein 16 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chrNW_004936675:1,208,170...1,262,131
Ensembl chrNW_004936675:1,208,566...1,262,409 		JBrowse link
G Fndc11 fibronectin type III domain containing 11 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004936514:10,847,406...10,848,415
Ensembl chrNW_004936514:10,847,414...10,848,607 		JBrowse link
G Fzd3 frizzled class receptor 3 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chrNW_004936675:1,275,500...1,334,878
Ensembl chrNW_004936675:1,275,470...1,333,540 		JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:25741868 PMID:28492532 PMID:33391346 NCBI chrNW_004936515:1,609,370...1,670,412
Ensembl chrNW_004936515:1,607,722...1,671,336 		JBrowse link
G Gid8 GID complex subunit 8 homolog ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chrNW_004936514:10,422,620...10,429,272
Ensembl chrNW_004936514:10,422,617...10,431,837 		JBrowse link
G Gmeb2 glucocorticoid modulatory element binding protein 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004936514:10,876,039...10,904,022
Ensembl chrNW_004936514:10,876,029...10,904,055 		JBrowse link
G Helz2 helicase with zinc finger 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004936514:10,851,149...10,863,252
Ensembl chrNW_004936514:10,852,109...10,863,969 		JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 More... NCBI chrNW_004936514:10,735,247...10,787,682
Ensembl chrNW_004936514:10,735,809...10,787,678 		JBrowse link
G Lime1 Lck interacting transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004936514:10,980,136...10,983,323 JBrowse link
G Nuggc nuclear GTPase, germinal center associated ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chrNW_004936675:885,015...931,657
Ensembl chrNW_004936675:885,039...920,253 		JBrowse link
G Pbk PDZ binding kinase ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chrNW_004936675:704,001...722,769
Ensembl chrNW_004936675:704,516...722,755 		JBrowse link
G Pnoc prepronociceptin ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chrNW_004936675:1,113,435...1,134,916
Ensembl chrNW_004936675:1,113,435...1,134,910 		JBrowse link
G Ppdpf pancreatic progenitor cell differentiation and proliferation factor ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 More... NCBI chrNW_004936514:10,820,874...10,822,054
Ensembl chrNW_004936514:10,820,889...10,822,054 		JBrowse link
G Prpf6 pre-mRNA processing factor 6 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chrNW_004936514:11,175,410...11,220,928
Ensembl chrNW_004936514:11,175,526...11,220,241 		JBrowse link
G Ptk6 protein tyrosine kinase 6 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004936514:10,826,013...10,833,170
Ensembl chrNW_004936514:10,826,724...10,832,954 		JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004936514:10,920,979...10,954,483
Ensembl chrNW_004936514:10,922,322...10,954,402 		JBrowse link
G Samd10 sterile alpha motif domain containing 10 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chrNW_004936514:11,169,167...11,173,956
Ensembl chrNW_004936514:11,167,305...11,173,877 		JBrowse link
G Scara3 scavenger receptor class A member 3 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chrNW_004936675:541,829...561,110
Ensembl chrNW_004936675:535,210...561,119 		JBrowse link
G Scara5 scavenger receptor class A member 5 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chrNW_004936675:763,467...868,021
Ensembl chrNW_004936675:765,378...863,843 		JBrowse link
G Slc17a9 solute carrier family 17 member 9 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chrNW_004936514:10,435,261...10,450,976
Ensembl chrNW_004936514:10,435,275...10,450,960 		JBrowse link
G Slc2a4rg SLC2A4 regulator ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004936514:10,984,174...10,987,574
Ensembl chrNW_004936514:10,984,171...10,987,127 		JBrowse link
G Sox18 SRY-box transcription factor 18 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chrNW_004936514:11,231,327...11,233,292
Ensembl chrNW_004936514:11,231,305...11,233,337 		JBrowse link
G Srms src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004936514:10,835,931...10,843,303
Ensembl chrNW_004936514:10,836,156...10,843,303 		JBrowse link
G Stmn3 stathmin 3 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004936514:10,910,444...10,914,676
Ensembl chrNW_004936514:10,906,732...10,912,960 		JBrowse link
G Tcfl5 transcription factor like 5 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chrNW_004936514:10,340,920...10,358,354
Ensembl chrNW_004936514:10,341,578...10,358,380 		JBrowse link
G Tpd52l2 TPD52 like 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004936514:11,072,148...11,092,454
Ensembl chrNW_004936514:11,072,113...11,094,269 		JBrowse link
G Uckl1 uridine-cytidine kinase 1 like 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chrNW_004936514:11,144,641...11,156,470
Ensembl chrNW_004936514:11,144,026...11,156,455 		JBrowse link
G Ythdf1 YTH N6-methyladenosine RNA binding protein F1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chrNW_004936514:10,587,877...10,603,373
Ensembl chrNW_004936514:10,587,222...10,603,478 		JBrowse link
G Zbtb46 zinc finger and BTB domain containing 46 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004936514:10,987,728...11,027,450
Ensembl chrNW_004936514:10,987,984...11,027,502 		JBrowse link
G Zgpat zinc finger CCCH-type and G-patch domain containing ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004936514:10,965,220...10,980,298
Ensembl chrNW_004936514:10,965,219...10,980,194 		JBrowse link
G Znf395 zinc finger protein 395 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chrNW_004936675:1,141,169...1,162,394
Ensembl chrNW_004936675:1,141,145...1,152,564 		JBrowse link
G Znf512b zinc finger protein 512B ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chrNW_004936514:11,156,602...11,166,404
Ensembl chrNW_004936514:11,159,416...11,165,202 		JBrowse link
Familial Infantile Convulsions and Paroxysmal Choreoathetosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mvp major vault protein ISO ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial ClinVar PMID:25741868 NCBI chrNW_004936501:12,598,907...12,610,306
Ensembl chrNW_004936501:12,599,036...12,655,910 		JBrowse link
G Prrt2 proline rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial | ClinVar Annotator: match by term: PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS OMIM
ClinVar		 PMID:11179027 PMID:11346027 PMID:16199547 PMID:18414213 PMID:20301633 More... NCBI chrNW_004936501:12,660,181...12,663,788
Ensembl chrNW_004936501:12,659,905...12,663,110 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14637
    syndrome 10017
      infancy electroclinical syndrome 118
        benign familial infantile epilepsy 66
          Familial Infantile Convulsions and Paroxysmal Choreoathetosis 2
          autosomal dominant nocturnal frontal lobe epilepsy 4 1
          benign familial infantile seizures 1 1
          benign familial infantile seizures 2 1
          benign familial infantile seizures 3 8
          benign familial infantile seizures 4 0
          benign familial infantile seizures 5 2
          benign familial infantile seizures 6 53
Path 2
Term Annotations click to browse term
  disease 14637
    disease of anatomical entity 14326
      nervous system disease 12613
        central nervous system disease 11277
          brain disease 10584
            epilepsy 2751
              electroclinical syndrome 1415
                infancy electroclinical syndrome 118
                  benign familial infantile epilepsy 66
                    Familial Infantile Convulsions and Paroxysmal Choreoathetosis 2
                    autosomal dominant nocturnal frontal lobe epilepsy 4 1
                    benign familial infantile seizures 1 1
                    benign familial infantile seizures 2 1
                    benign familial infantile seizures 3 8
                    benign familial infantile seizures 4 0
                    benign familial infantile seizures 5 2
                    benign familial infantile seizures 6 53
paths to the root