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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


show annotations for term's descendants           Sort by:
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 chr10:66,932,189...67,092,105
Ensembl chr10:66,931,904...67,092,105 		JBrowse link
G Scn2a sodium channel, voltage-gated, type II, alpha 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 chr 2:65,451,108...65,597,791
Ensembl chr 2:65,451,115...65,597,791 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16222669 PMID:16826524 PMID:17576681 PMID:18414213 More... NCBI chr14:66,370,685...66,390,397
Ensembl chr14:66,372,488...66,390,397 		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 channel, voltage-gated, type II, alpha ISO ClinVar Annotator: match by term: Seizures, benign familial infantile, 1 ClinVar PMID:37578743 NCBI chr 2:65,451,108...65,597,791
Ensembl chr 2:65,451,115...65,597,791 		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 chr 7:126,616,707...126,620,800
Ensembl chr 7:126,616,703...126,620,383 		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, alpha 2 polypeptide ISO ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar NCBI chr 1:172,099,276...172,125,631
Ensembl chr 1:172,099,276...172,125,631 		JBrowse link
G Csrnp3 cysteine-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 chr 2:65,675,628...65,866,958
Ensembl chr 2:65,676,111...65,861,890 		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 chr 2:65,913,110...65,955,217
Ensembl chr 2:65,913,110...65,955,338 		JBrowse link
G Scn1a sodium channel, voltage-gated, type I, alpha ISO ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:66,101,125...66,271,181
Ensembl chr 2:66,101,122...66,271,184 		JBrowse link
G Scn2a sodium channel, voltage-gated, type II, alpha ISO ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3 | ClinVar Annotator: match by term: Seizures, benign familial infantile, 3
CTD Direct Evidence: marker/mechanism
DNA: missense mutation: exon 16 : p.N1001K		 OMIM
ClinVar
CTD
RGD		 PMID:2635020 PMID:3508699 PMID:6660252 PMID:9536098 PMID:11326335 More... RGD:13207596 NCBI chr 2:65,451,108...65,597,791
Ensembl chr 2:65,451,115...65,597,791 		JBrowse link
G Scn3a sodium channel, voltage-gated, type III, alpha ISO ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:65,287,462...65,397,935
Ensembl chr 2:65,288,607...65,397,971 		JBrowse link
G Scn9a sodium channel, voltage-gated, type IX, alpha ISO ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:66,310,424...66,465,456
Ensembl chr 2:66,310,424...66,465,306 		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 chr 2:66,014,131...66,087,144
Ensembl chr 2:66,014,671...66,086,961 		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 chr15:65,858,223...66,158,485
Ensembl chr15:65,858,236...66,158,491 		JBrowse link
G Scn8a sodium channel, voltage-gated, type VIII, alpha 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 chr15:100,766,600...100,943,819
Ensembl chr15:100,767,739...100,943,819 		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 chr 2:181,134,999...181,136,773
Ensembl chr 2:181,134,999...181,136,773 		JBrowse link
G Adar adenosine deaminase, RNA-specific ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:89,622,321...89,660,756
Ensembl chr 3:89,622,329...89,660,753 		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 chr 2:180,608,290...180,624,319
Ensembl chr 2:180,609,018...180,624,319 		JBrowse link
G Arfrp1 ARF 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 chr 2:180,999,483...181,007,197
Ensembl chr 2:180,999,483...181,007,197 		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 chr 2:180,416,174...180,418,693
Ensembl chr 2:180,416,174...180,418,693 		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 chr 2:180,570,402...180,575,803
Ensembl chr 2:180,570,816...180,575,803 		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 chr14:66,074,751...66,104,053
Ensembl chr14:66,074,751...66,104,056 		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 chr14:66,370,685...66,390,397
Ensembl chr14:66,372,488...66,390,397 		JBrowse link
G Chrna4 cholinergic receptor, nicotinic, alpha polypeptide 4 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 chr 2:180,664,104...180,685,339
Ensembl chr 2:180,660,173...180,685,339 		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 chr 3:89,660,755...89,671,939
Ensembl chr 3:89,653,502...89,671,939 		JBrowse link
G Clu clusterin ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr14:66,206,093...66,218,992
Ensembl chr14:66,205,932...66,218,996 		JBrowse link
G Col20a1 collagen, type XX, alpha 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 2:180,626,629...180,659,338
Ensembl chr 2:180,628,328...180,660,156 		JBrowse link
G Col9a3 collagen, type IX, alpha 3 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 2:180,239,895...180,263,985
Ensembl chr 2:180,239,583...180,263,982 		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 chr 3:19,747,565...19,749,560
Ensembl chr 3:19,747,565...19,749,560 		JBrowse link
G Depdc5 DEP domain containing 5 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 chr 5:33,020,996...33,151,581
Ensembl chr 5:33,021,045...33,151,580 		JBrowse link
G Dido1 death inducer-obliterator 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 2:180,299,757...180,351,886
Ensembl chr 2:180,299,757...180,351,792 		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 chr 2:181,162,141...181,194,679
Ensembl chr 2:181,162,278...181,196,926 		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 chr 2:180,783,551...180,798,808
Ensembl chr 2:180,789,446...180,798,807 		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 chr14:65,767,895...65,830,561
Ensembl chr14:65,767,898...65,830,524 		JBrowse link
G Ephx2 epoxide hydrolase 2, cytoplasmic ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr14:66,321,821...66,361,971
Ensembl chr14:66,321,823...66,361,949 		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 chr14:66,056,476...66,071,418
Ensembl chr14:66,056,487...66,071,443 		JBrowse link
G Extl3 exostosin-like glycosyltransferase 3 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr14:65,289,508...65,387,322
Ensembl chr14:65,289,509...65,387,304 		JBrowse link
G Fbxo16 F-box protein 16 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr14:65,504,067...65,561,422
Ensembl chr14:65,504,067...65,561,422 		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 chr 2:180,854,385...180,864,649
Ensembl chr 2:180,861,806...180,864,647 		JBrowse link
G Fzd3 frizzled class receptor 3 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr14:65,429,890...65,499,912
Ensembl chr14:65,429,898...65,499,912 		JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor, subunit gamma 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:25741868 PMID:28492532 PMID:33391346 NCBI chr11:41,801,017...41,891,684
Ensembl chr11:41,801,030...41,891,684 		JBrowse link
G Gid8 GID complex subunit 8 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 2:180,351,874...180,363,392
Ensembl chr 2:180,351,910...180,360,526 		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 chr 2:180,893,240...180,933,481
Ensembl chr 2:180,893,242...180,929,828 		JBrowse link
G Helz2 helicase with zinc finger 2, transcriptional coactivator ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 2:180,869,408...180,883,851
Ensembl chr 2:180,869,408...180,883,820 		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 chr 2:180,717,372...180,777,368
Ensembl chr 2:180,717,372...180,777,093 		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 chr 2:181,023,028...181,025,421
Ensembl chr 2:181,021,871...181,025,421 		JBrowse link
G Nkain4 Na+/K+ transporting ATPase interacting 4 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 2:180,576,559...180,596,730
Ensembl chr 2:180,576,565...180,596,492 		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 chr14:65,830,901...65,885,893
Ensembl chr14:65,835,995...65,885,980 		JBrowse link
G Pbk PDZ binding kinase ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr14:66,043,337...66,055,271
Ensembl chr14:66,043,286...66,055,271 		JBrowse link
G Pnoc prepronociceptin ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr14:65,638,931...65,662,908
Ensembl chr14:65,638,122...65,662,921 		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 chr 2:180,828,615...180,830,297
Ensembl chr 2:180,829,040...180,830,564 		JBrowse link
G Prpf6 pre-mRNA splicing factor 6 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 2:181,243,112...181,297,454
Ensembl chr 2:181,233,661...181,297,453 		JBrowse link
G Ptk6 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 chr 2:180,836,917...180,845,408
Ensembl chr 2:180,835,514...180,844,582 		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 chr 2:180,961,504...180,998,409
Ensembl chr 2:180,961,532...180,998,409 		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 chr 2:181,237,008...181,241,227
Ensembl chr 2:181,237,011...181,241,005 		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 chr14:66,156,844...66,191,427
Ensembl chr14:66,156,843...66,191,384 		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 chr14:65,903,852...66,002,275
Ensembl chr14:65,903,852...66,002,275 		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 chr 2:180,363,989...180,384,073
Ensembl chr 2:180,367,056...180,384,073 		JBrowse link
G Sox18 SRY (sex determining region Y)-box 18 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 2:181,311,630...181,313,433
Ensembl chr 2:181,311,629...181,313,433 		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 chr 2:180,847,356...180,854,964
Ensembl chr 2:180,847,355...180,854,978 		JBrowse link
G Stmn3 stathmin-like 3 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 2:180,948,252...180,956,293
Ensembl chr 2:180,948,252...180,956,293 		JBrowse link
G Tcfl5 transcription factor-like 5 (basic helix-loop-helix) ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 2:180,263,749...180,284,540
Ensembl chr 2:180,263,749...180,284,501 		JBrowse link
G Tpd52l2 tumor protein D52-like 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 2:181,138,951...181,160,103
Ensembl chr 2:181,138,935...181,159,759 		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 chr 2:181,210,942...181,223,820
Ensembl chr 2:181,210,942...181,226,685 		JBrowse link
G Ythdf1 YTH N6-methyladenosine RNA binding protein 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 2:180,546,170...180,562,729
Ensembl chr 2:180,546,170...180,562,742 		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 chr 2:181,012,105...181,134,776
Ensembl chr 2:181,029,555...181,101,219 		JBrowse link
G Zfp395 zinc finger protein 395 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr14:65,595,796...65,636,379
Ensembl chr14:65,595,838...65,636,379 		JBrowse link
G Zfp512b zinc finger protein 512B ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 2:181,223,925...181,234,572
Ensembl chr 2:181,223,896...181,234,596 		JBrowse link
G Zgpat zinc finger, CCCH-type with G patch domain ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 2:181,006,724...181,022,586
Ensembl chr 2:181,006,721...181,025,421 		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 chr 7:126,586,036...126,613,729
Ensembl chr 7:126,586,032...126,613,793 		JBrowse link
G Prrt2 proline-rich transmembrane protein 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial | ClinVar Annotator: match by term: PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS		 OMIM
CTD
ClinVar		 PMID:11179027 PMID:11346027 PMID:16199547 PMID:18414213 PMID:20301633 More... NCBI chr 7:126,616,707...126,620,800
Ensembl chr 7:126,616,703...126,620,383 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16268
    syndrome 10905
      infancy electroclinical syndrome 119
        benign familial infantile epilepsy 67
          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 54
Path 2
Term Annotations click to browse term
  disease 16268
    disease of anatomical entity 15860
      nervous system disease 13799
        central nervous system disease 12320
          brain disease 11561
            epilepsy 2940
              electroclinical syndrome 1524
                infancy electroclinical syndrome 119
                  benign familial infantile epilepsy 67
                    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 54
paths to the root