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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 chr20:21,330,990...21,508,580
Ensembl chr20:21,332,147...21,463,122 		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 chr 3:70,710,862...70,845,569
Ensembl chr 3:50,302,877...50,437,214 		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 chr15:44,517,862...44,534,144
Ensembl chr15:40,342,317...40,358,601 		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 chr 3:70,710,862...70,845,569
Ensembl chr 3:50,302,877...50,437,214 		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 1:191,054,962...191,059,632
Ensembl chr 1:181,604,545...181,628,850 		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 chr13:87,261,964...87,286,911
Ensembl chr13:84,729,601...84,754,544 		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 chr 3:70,906,587...71,102,596
Ensembl chr 3:50,498,633...50,685,950 		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 3:71,150,559...71,187,321
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: Seizures, benign familial infantile, 3 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 3:71,360,840...71,479,870
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: 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 3:70,710,862...70,845,569
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: Seizures, benign familial infantile, 3 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 3:70,554,496...70,666,198
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: Seizures, benign familial infantile, 3 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 3:71,553,185...71,701,377
Ensembl chr 3:51,145,146...51,293,516 		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 3:71,269,425...71,343,936
Ensembl chr 3:50,861,367...50,935,903 		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 chr 7:99,614,089...99,914,736
Ensembl chr 7:97,730,465...98,025,653 		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 chr 7:133,860,901...134,034,809
Ensembl chr 7:131,982,480...132,151,292 		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 3:188,972,198...188,974,095
Ensembl chr 3:168,594,609...168,619,762 		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 2:177,436,076...177,475,969
Ensembl chr 2:175,138,403...175,178,282 		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 3:188,462,125...188,477,515
Ensembl chr 3:168,084,614...168,099,933 		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 3:188,844,013...188,851,473
Ensembl chr 3:168,466,496...168,473,914 		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 3:188,266,572...188,268,786
Ensembl chr 3:167,889,009...167,891,223 		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 3:188,425,392...188,430,174
Ensembl chr 3:168,047,824...168,052,606 		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 chr15:44,230,927...44,263,317
Ensembl chr15:40,055,368...40,087,758 		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 chr15:44,517,862...44,534,144
Ensembl chr15:40,342,317...40,358,601 		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 chr 3:188,506,802...188,535,558
Ensembl chr 3:168,136,266...168,156,957 		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 2:177,479,091...177,487,306
Ensembl chr 2:175,181,402...175,189,619 		JBrowse link
G Clu clusterin ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr15:44,336,619...44,375,861
Ensembl chr15:40,174,617...40,200,315 		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 chr 3:188,477,663...188,512,326
Ensembl chr 3:168,084,560...168,135,309 		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 chr 3:188,089,337...188,112,034
Ensembl chr 3:167,711,840...167,734,465 		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 2:104,059,184...104,061,048
Ensembl chr 2:102,143,055...102,144,919 		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 chr14:81,956,777...82,087,392
Ensembl chr14:77,732,297...77,862,794 		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 3:188,150,100...188,203,445
Ensembl chr 3:167,772,770...167,817,218 		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 3:188,999,508...189,033,455
Ensembl chr 3:168,621,969...168,655,935 		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 3:188,643,455...188,652,633
Ensembl chr 3:168,195,357...168,275,071 		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 chr15:43,930,234...43,992,065
Ensembl chr15:39,754,632...39,816,445 		JBrowse link
G Ephx2 epoxide hydrolase 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr15:44,465,447...44,503,157
Ensembl chr15:40,289,902...40,327,615 		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 chr15:44,210,124...44,230,785
Ensembl chr15:40,034,568...40,055,306
Ensembl chr15:40,034,568...40,055,306 		JBrowse link
G Extl3 exostosin-like glycosyltransferase 3 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr15:43,469,293...43,559,760
Ensembl chr15:39,293,605...39,338,898 		JBrowse link
G Fbxo16 F-box protein 16 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr15:43,667,207...43,717,096
Ensembl chr15:39,492,377...39,541,480 		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 3:188,708,045...188,710,670
Ensembl chr 3:168,330,602...168,334,617 		JBrowse link
G Fzd3 frizzled class receptor 3 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr15:43,596,962...43,664,047
Ensembl chr15:39,421,355...39,488,369 		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 chr10:26,876,926...26,965,523
Ensembl chr10:26,374,694...26,464,346 		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 chr 3:188,203,571...188,214,324
Ensembl chr 3:167,826,060...167,834,814 		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 3:188,740,210...188,778,377
Ensembl chr 3:168,362,650...168,400,788 		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 chr 3:188,716,370...188,730,776
Ensembl chr 3:168,338,813...168,353,159 		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 3:188,572,345...188,631,391
Ensembl chr 3:168,195,357...168,275,071 		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 3:188,868,338...188,870,661
Ensembl chr 3:168,490,074...168,493,127 		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 chr 3:188,430,862...188,451,561
Ensembl chr 3:168,053,066...168,073,925 		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 chr15:43,997,446...44,041,716
Ensembl chr15:39,821,855...39,866,122 		JBrowse link
G Pbk PDZ binding kinase ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr15:44,198,506...44,209,572
Ensembl chr15:40,023,002...40,034,014 		JBrowse link
G Pnoc prepronociceptin ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr15:43,800,240...43,827,841
Ensembl chr15:39,624,641...39,651,867 		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 3:188,676,821...188,678,599
Ensembl chr 3:168,299,791...168,301,036 		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 chr 3:189,084,465...189,148,705
Ensembl chr 3:168,704,299...168,774,991 		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 chr 3:188,684,633...188,693,224
Ensembl chr 3:168,307,073...168,315,664 		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 3:188,778,329...188,842,877
Ensembl chr 3:168,419,579...168,465,348 		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 3:189,077,795...189,082,069
Ensembl chr 3:168,700,284...168,705,248 		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 chr15:44,315,422...44,348,416
Ensembl chr15:40,140,161...40,172,894 		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 chr15:44,055,576...44,160,593
Ensembl chr15:39,880,035...39,983,373 		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 3:188,211,106...188,233,553
Ensembl chr 3:167,839,385...167,855,985 		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 chr 3:188,871,509...188,874,652 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 chr 3:189,163,000...189,164,802
Ensembl chr 3:168,785,490...168,787,290 		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 3:188,696,070...188,702,474
Ensembl chr 3:168,318,512...168,324,915 		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 chr 3:188,794,358...188,802,494
Ensembl chr 3:168,416,810...168,425,056 		JBrowse link
G Tcfl5 transcription factor like 5 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:188,112,037...188,131,883
Ensembl chr 3:167,734,473...167,754,282 		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 chr 3:188,972,321...188,995,721
Ensembl chr 3:168,594,609...168,619,762 		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 3:189,052,365...189,064,939
Ensembl chr 3:168,674,849...168,698,091 		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 chr 3:188,402,228...188,417,740
Ensembl chr 3:168,024,663...168,040,172 		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 3:188,874,826...188,949,005
Ensembl chr 3:168,499,583...168,568,782 		JBrowse link
G Zfp395 zinc finger protein 395 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr15:43,757,350...43,797,513
Ensembl chr15:39,608,080...39,619,950 		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 3:189,065,036...189,075,587
Ensembl chr 3:168,687,521...168,698,091 		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 chr 3:188,851,376...188,867,914
Ensembl chr 3:168,473,981...168,490,380 		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 1:191,025,259...191,052,866
Ensembl chr 1:181,594,734...181,622,380 		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 1:191,054,962...191,059,632
Ensembl chr 1:181,604,545...181,628,850 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    syndrome 11397
      infancy electroclinical syndrome 118
        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 19134
    disease of anatomical entity 18447
      nervous system disease 14354
        central nervous system disease 12627
          brain disease 11847
            epilepsy 2936
              electroclinical syndrome 1516
                infancy electroclinical syndrome 118
                  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