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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_004955425:16,343,314...16,552,552
Ensembl chrNW_004955425:16,344,141...16,493,527 		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_004955449:8,722,043...8,846,165
Ensembl chrNW_004955449:8,721,784...8,846,200 		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_004955403:49,970,398...49,989,095
Ensembl chrNW_004955403:49,970,398...49,989,137 		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_004955449:8,722,043...8,846,165
Ensembl chrNW_004955449:8,721,784...8,846,200 		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_004955493:7,144,389...7,148,613 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_004955468:11,898,786...11,924,341
Ensembl chrNW_004955468:11,898,915...11,922,400 		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_004955449:8,450,292...8,635,393
Ensembl chrNW_004955449:8,460,577...8,635,417 		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_004955449:8,365,951...8,406,988
Ensembl chrNW_004955449:8,379,164...8,406,988 		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_004955449:8,072,910...8,220,763
Ensembl chrNW_004955449:8,160,986...8,221,951 		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_004955449:8,722,043...8,846,165
Ensembl chrNW_004955449:8,721,784...8,846,200 		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_004955449:8,896,454...9,009,304
Ensembl chrNW_004955449:8,896,454...9,009,304 		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_004955449:7,858,156...8,017,569
Ensembl chrNW_004955449:7,923,801...8,017,569 		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_004955449:8,242,327...8,306,012
Ensembl chrNW_004955449:8,241,990...8,308,562 		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_004955461:6,793,877...7,119,859
Ensembl chrNW_004955461:6,797,018...7,119,569 		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_004955547:2,086,215...2,201,300
Ensembl chrNW_004955547:2,086,178...2,195,971 		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_004955528:391,749...395,181
Ensembl chrNW_004955528:391,749...395,181 		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_004955545:1,078,319...1,106,938
Ensembl chrNW_004955545:1,078,319...1,106,938 		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_004955528:878,837...893,427
Ensembl chrNW_004955528:877,073...893,484 		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_004955528:519,887...529,012
Ensembl chrNW_004955528:519,887...529,012 		JBrowse link
G Bhlhe23 basic helix-loop-helix family member e23 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chrNW_004955528:1,094,234...1,094,674 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_004955528:919,246...922,581
Ensembl chrNW_004955528:919,246...922,619 		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_004955403:50,268,490...50,304,033
Ensembl chrNW_004955403:50,267,212...50,304,262 		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_004955403:49,970,398...49,989,095
Ensembl chrNW_004955403:49,970,398...49,989,137 		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_004955528:825,314...840,994
Ensembl chrNW_004955528:825,308...841,270 		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_004955545:1,065,457...1,077,056
Ensembl chrNW_004955545:1,065,457...1,077,526 		JBrowse link
G Clu clusterin ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chrNW_004955403:50,160,598...50,175,876
Ensembl chrNW_004955403:50,160,598...50,175,876 		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_004955528:847,416...878,741 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_004955528:1,286,314...1,305,863 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_004955444:12,989,210...12,991,300 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_004955455:5,881,631...6,005,514
Ensembl chrNW_004955455:5,881,691...6,003,035 		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_004955528:1,153,181...1,207,346
Ensembl chrNW_004955528:1,162,836...1,207,596 		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_004955528:317,891...366,299
Ensembl chrNW_004955528:317,891...366,293 		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_004955528:717,338...726,383
Ensembl chrNW_004955528:717,338...729,692 		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_004955403:50,565,496...50,635,226
Ensembl chrNW_004955403:50,565,583...50,637,294 		JBrowse link
G Ephx2 epoxide hydrolase 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chrNW_004955403:49,999,563...50,038,800
Ensembl chrNW_004955403:49,999,563...50,041,572 		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_004955403:50,306,726...50,328,015
Ensembl chrNW_004955403:50,307,681...50,372,822 		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_004955403:51,076,323...51,102,435
Ensembl chrNW_004955403:51,076,319...51,102,435 		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_004955403:50,835,073...50,887,523
Ensembl chrNW_004955403:50,835,121...50,887,532 		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_004955528:670,563...672,995
Ensembl chrNW_004955528:670,563...672,995 		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_004955403:50,899,658...50,959,077
Ensembl chrNW_004955403:50,899,523...50,959,071 		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_004955408:15,766,161...15,857,121
Ensembl chrNW_004955408:15,765,984...15,857,244 		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_004955528:1,146,313...1,153,093
Ensembl chrNW_004955528:1,146,313...1,153,093 		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_004955528:603,817...638,698
Ensembl chrNW_004955528:611,736...638,698 		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_004955528:652,381...666,923
Ensembl chrNW_004955528:652,543...668,744 		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_004955528:737,416...792,885
Ensembl chrNW_004955528:737,416...791,321 		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_004955528:490,319...492,943
Ensembl chrNW_004955528:490,471...491,688 		JBrowse link
G Nkain4 sodium/potassium transporting ATPase interacting 4 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chrNW_004955528:903,195...917,522
Ensembl chrNW_004955528:903,176...918,903 		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_004955403:50,507,971...50,558,881
Ensembl chrNW_004955403:50,507,116...50,558,826 		JBrowse link
G Pbk PDZ binding kinase ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chrNW_004955403:50,332,167...50,353,147
Ensembl chrNW_004955403:50,330,981...50,352,570 		JBrowse link
G Pnoc prepronociceptin ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chrNW_004955403:50,735,567...50,755,892
Ensembl chrNW_004955403:50,735,390...50,755,902 		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_004955528:701,182...718,037 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_004955528:687,996...695,596
Ensembl chrNW_004955528:687,996...695,596 		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_004955528:531,680...578,003
Ensembl chrNW_004955528:532,385...572,398 		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_004955528:279,481...284,386
Ensembl chrNW_004955528:281,932...284,386 		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_004955403:50,185,857...50,223,340
Ensembl chrNW_004955403:50,185,037...50,226,030 		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_004955403:50,386,212...50,486,335
Ensembl chrNW_004955403:50,386,125...50,486,361 		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_004955528:1,124,430...1,139,476
Ensembl chrNW_004955528:1,124,437...1,139,476 		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_004955528:485,653...488,923
Ensembl chrNW_004955528:486,140...488,920 		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_004955528:204,729...206,772 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_004955528:677,332...685,903
Ensembl chrNW_004955528:677,628...684,340 		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_004955528:577,536...583,850
Ensembl chrNW_004955528:577,536...583,850 		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_004955528:1,269,387...1,286,124 JBrowse link
G Tnfrsf6b TNF receptor superfamily member 6b ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004955528:529,817...531,577 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_004955528:371,761...389,714
Ensembl chrNW_004955528:371,761...389,705 		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_004955528:297,952...311,306
Ensembl chrNW_004955528:297,952...311,306 		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_004955528:935,182...951,722
Ensembl chrNW_004955528:935,182...951,722 		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_004955528:438,826...485,484
Ensembl chrNW_004955528:438,859...475,543 		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_004955528:493,051...519,780
Ensembl chrNW_004955528:493,051...519,780 		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_004955403:50,761,334...50,772,286
Ensembl chrNW_004955403:50,757,203...50,795,418 		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_004955528:288,494...297,850
Ensembl chrNW_004955528:288,735...294,898 		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_004955493:7,113,194...7,141,944
Ensembl chrNW_004955493:7,113,319...7,143,582 		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_004955493:7,144,389...7,148,613 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14333
    syndrome 9842
      infancy electroclinical syndrome 116
        benign familial infantile epilepsy 68
          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 55
Path 2
Term Annotations click to browse term
  disease 14333
    disease of anatomical entity 14027
      nervous system disease 12344
        central nervous system disease 11065
          brain disease 10383
            epilepsy 2719
              electroclinical syndrome 1394
                infancy electroclinical syndrome 116
                  benign familial infantile epilepsy 68
                    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 55
paths to the root