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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_004624791:306,827...589,134
Ensembl chrNW_004624791:365,726...588,870 		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_004624758:22,182,468...22,200,076
Ensembl chrNW_004624758:22,182,951...22,200,063 		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_004624782:13,390,347...13,393,775 JBrowse link
benign familial infantile seizures 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csrnp3 cysteine and serine rich nuclear protein 3 ISO ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004624787:3,308,502...3,506,450
Ensembl chrNW_004624787:3,308,484...3,500,852 		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_004624787:3,557,946...3,613,235
Ensembl chrNW_004624787:3,559,903...3,591,615 		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_004624787:3,767,405...3,939,065
Ensembl chrNW_004624787:3,768,120...3,908,889 		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_004624732:222,657...330,959
Ensembl chrNW_004624732:251,860...328,917 		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_004624787:3,995,319...4,148,230
Ensembl chrNW_004624787:3,997,887...4,085,449 		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_004624787:3,685,700...3,745,018
Ensembl chrNW_004624787:3,686,088...3,744,895 		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_004624735:23,441,042...23,752,197
Ensembl chrNW_004624735:23,441,042...23,751,247 		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_004624816:498,737...631,850
Ensembl chrNW_004624816:499,179...631,936 		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_004624741:29,487,951...29,490,234 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_004624885:2,783,058...2,839,688
Ensembl chrNW_004624885:2,812,448...2,839,693 		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_004624741:28,971,320...28,986,699
Ensembl chrNW_004624741:28,971,239...28,986,717 		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_004624741:29,346,678...29,356,199
Ensembl chrNW_004624741:29,346,684...29,355,739 		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_004624741:28,762,079...28,766,989
Ensembl chrNW_004624741:28,766,303...28,766,920 		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_004624741:28,937,836...28,944,000 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_004624758:22,539,332...22,575,981
Ensembl chrNW_004624758:22,540,693...22,575,919 		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_004624758:22,182,468...22,200,076
Ensembl chrNW_004624758:22,182,951...22,200,063 		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_004624741:29,024,668...29,039,684
Ensembl chrNW_004624741:29,026,908...29,044,464 		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_004624885:2,839,607...2,851,934
Ensembl chrNW_004624885:2,843,899...2,848,522 		JBrowse link
G Clu clusterin ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chrNW_004624758:22,431,331...22,444,185
Ensembl chrNW_004624758:22,426,918...22,444,357 		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_004624741:28,986,897...29,018,995 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_004624741:28,591,529...28,610,382 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_004624744:25,194,458...25,196,658
Ensembl chrNW_004624744:25,194,495...25,196,488 		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_004624747:8,169,035...8,310,945
Ensembl chrNW_004624747:8,168,321...8,310,457 		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_004624741:28,646,938...28,700,683 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_004624741:29,515,338...29,562,619
Ensembl chrNW_004624741:29,515,298...29,562,617 		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_004624741:29,154,762...29,163,794
Ensembl chrNW_004624741:29,154,993...29,163,799 		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_004624758:22,838,077...22,904,627
Ensembl chrNW_004624758:22,837,374...22,903,714 		JBrowse link
G Ephx2 epoxide hydrolase 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chrNW_004624758:22,216,462...22,252,467
Ensembl chrNW_004624758:22,221,314...22,254,813 		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_004624758:22,578,565...22,600,731
Ensembl chrNW_004624758:22,578,528...22,600,804 		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_004624758:23,257,623...23,370,782
Ensembl chrNW_004624758:23,324,512...23,368,584 		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_004624758:23,090,074...23,143,907
Ensembl chrNW_004624758:23,100,932...23,143,984 		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_004624741:29,209,559...29,210,654
Ensembl chrNW_004624741:29,208,384...29,210,751 		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_004624758:23,147,512...23,240,711
Ensembl chrNW_004624758:23,147,452...23,230,879 		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_004624733:27,506,827...27,593,750
Ensembl chrNW_004624733:27,504,660...27,594,039 		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_004624741:28,700,817...28,707,527
Ensembl chrNW_004624741:28,701,018...28,707,527 		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_004624741:29,241,820...29,281,551
Ensembl chrNW_004624741:29,241,710...29,281,516 		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_004624741:29,213,954...29,228,567
Ensembl chrNW_004624741:29,212,634...29,228,731 		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_004624741:29,089,894...29,143,681
Ensembl chrNW_004624741:29,091,119...29,143,589 		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_004624741:29,390,743...29,393,457 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_004624741:28,945,367...28,965,672 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_004624758:22,777,511...22,838,082
Ensembl chrNW_004624758:22,777,612...22,838,061 		JBrowse link
G Pbk PDZ binding kinase ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chrNW_004624758:22,603,076...22,625,817
Ensembl chrNW_004624758:22,603,039...22,625,763 		JBrowse link
G Pnoc prepronociceptin ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chrNW_004624758:23,007,530...23,026,962
Ensembl chrNW_004624758:23,007,573...23,028,704 		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_004624741:29,177,443...29,178,629
Ensembl chrNW_004624741:29,177,455...29,178,625 		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_004624741:29,601,050...29,664,054
Ensembl chrNW_004624741:29,601,047...29,664,054 		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_004624741:29,183,992...29,192,091
Ensembl chrNW_004624741:29,185,300...29,191,863 		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_004624741:29,303,844...29,344,123
Ensembl chrNW_004624741:29,304,427...29,343,842 		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_004624741:29,595,489...29,599,819
Ensembl chrNW_004624741:29,596,069...29,599,799 		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_004624758:22,454,181...22,488,431
Ensembl chrNW_004624758:22,454,213...22,488,452 		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_004624758:22,661,136...22,757,578
Ensembl chrNW_004624758:22,663,129...22,753,776 		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_004624741:28,707,739...28,730,695 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_004624741:29,393,548...29,397,725
Ensembl chrNW_004624741:29,392,995...29,397,239 		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_004624741:29,679,274...29,681,069
Ensembl chrNW_004624741:29,679,091...29,681,049 		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_004624741:29,194,227...29,205,752
Ensembl chrNW_004624741:29,195,599...29,202,285 		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_004624741:29,292,321...29,299,623
Ensembl chrNW_004624741:29,292,076...29,299,621 		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_004624741:28,610,637...28,628,777
Ensembl chrNW_004624741:28,610,653...28,628,777 		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_004624741:29,344,160...29,345,947 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_004624741:29,492,109...29,511,410
Ensembl chrNW_004624741:29,492,288...29,509,952 		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_004624741:29,568,980...29,581,923
Ensembl chrNW_004624741:29,566,007...29,581,895 		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_004624741:28,918,466...28,933,593
Ensembl chrNW_004624741:28,917,942...28,933,599 		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_004624741:29,397,900...29,443,605
Ensembl chrNW_004624741:29,398,784...29,463,641 		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_004624741:29,355,960...29,390,543
Ensembl chrNW_004624741:29,356,260...29,390,300 		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_004624758:23,029,522...23,077,390
Ensembl chrNW_004624758:23,029,342...23,079,701 		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_004624741:29,581,973...29,592,212
Ensembl chrNW_004624741:29,584,872...29,590,986 		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_004624782:13,363,121...13,386,961
Ensembl chrNW_004624782:13,363,000...13,387,086 		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_004624782:13,390,347...13,393,775 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14231
    syndrome 9754
      infancy electroclinical syndrome 117
        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 0
          benign familial infantile seizures 2 1
          benign familial infantile seizures 3 6
          benign familial infantile seizures 4 0
          benign familial infantile seizures 5 2
          benign familial infantile seizures 6 56
Path 2
Term Annotations click to browse term
  disease 14231
    disease of anatomical entity 13933
      nervous system disease 12273
        central nervous system disease 10999
          brain disease 10313
            epilepsy 2694
              electroclinical syndrome 1380
                infancy electroclinical syndrome 117
                  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 0
                    benign familial infantile seizures 2 1
                    benign familial infantile seizures 3 6
                    benign familial infantile seizures 4 0
                    benign familial infantile seizures 5 2
                    benign familial infantile seizures 6 56
paths to the root