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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 chr 9:67,913,062...68,135,555 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 chr10:50,717,264...50,886,079
Ensembl chr10:50,717,271...50,888,145 		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 chr 8:25,571,958...25,591,982
Ensembl chr 8:25,571,863...25,591,788 		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 chr10:50,717,264...50,886,079
Ensembl chr10:50,717,271...50,888,145 		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 5:26,838,280...26,841,918
Ensembl chr 5:26,839,454...26,841,916 		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 chr20:3,801,044...3,828,680
Ensembl chr20:3,802,887...3,828,692 		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 chr10:50,967,138...51,184,378
Ensembl chr10:51,073,480...51,182,389 		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 chr10:51,237,150...51,284,301
Ensembl chr10:51,236,756...51,259,062 		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 chr10:51,490,204...51,653,916 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 chr10:50,717,264...50,886,079
Ensembl chr10:50,717,271...50,888,145 		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 chr10:50,563,560...50,679,179
Ensembl chr10:50,563,568...50,637,179 		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 chr10:51,711,446...51,898,856
Ensembl chr10:51,714,931...51,829,621 		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 chr10:51,365,156...51,449,207
Ensembl chr10:51,364,889...51,449,183 		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 8:126,566,288...126,921,354
Ensembl chr 8:126,566,545...126,622,712 		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 chr11:47,770,513...47,983,843
Ensembl chr11:47,838,358...47,978,399 		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 2:367,344...370,151
Ensembl chr 2:367,423...368,832 		JBrowse link
G ADAR adenosine deaminase RNA specific ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr20:9,194,611...9,241,102
Ensembl chr20:9,219,937...9,241,329 		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 2:918,508...936,175
Ensembl chr 2:917,479...936,138 		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 chr 2:520,084...528,640
Ensembl chr 2:520,953...530,889 		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 2:1,215,909...1,221,960
Ensembl chr 2:1,216,206...1,216,883 		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 2:965,811...970,983 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 chr 8:25,842,756...25,884,457
Ensembl chr 8:25,857,614...25,884,439 		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: 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 chr 8:25,571,958...25,591,982
Ensembl chr 8:25,571,863...25,591,788 		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 2:851,790...862,685 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 chr20:9,245,803...9,255,430
Ensembl chr20:9,247,231...9,253,795 		JBrowse link
G CLU clusterin ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 8:25,704,441...25,721,789
Ensembl chr 8:25,703,257...25,721,789 		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 2:874,205...913,666
Ensembl chr 2:876,882...912,778 		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 2:1,385,108...1,411,960 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 8:62,052,155...62,056,424
Ensembl chr 8:62,052,592...62,053,182 		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 chr19:14,634,836...14,798,050
Ensembl chr19:14,635,947...14,787,591 		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 2:1,285,027...1,345,726
Ensembl chr 2:1,285,051...1,345,846 		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 2:303,195...310,618
Ensembl chr 2:307,988...310,475 		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 2:712,020...724,843
Ensembl chr 2:713,522...724,859 		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 chr 8:26,190,992...26,291,085
Ensembl chr 8:26,190,944...26,292,890 		JBrowse link
G EPHX2 epoxide hydrolase 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 8:25,603,668...25,659,232
Ensembl chr 8:25,603,735...25,659,345 		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 chr 8:25,885,823...25,919,863
Ensembl chr 8:25,887,309...25,916,630 		JBrowse link
G EXTL3 exostosin like glycosyltransferase 3 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 8:26,729,772...26,861,953
Ensembl chr 8:26,821,141...26,864,926 		JBrowse link
G FBXO16 F-box protein 16 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 8:26,533,699...26,595,603
Ensembl chr 8:26,529,669...26,594,623 		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 2:648,792...652,890
Ensembl chr 2:648,883...649,836 		JBrowse link
G FZD3 frizzled class receptor 3 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 8:26,598,544...26,668,983
Ensembl chr 8:26,598,610...26,667,543 		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 chr23:64,422,519...64,512,124
Ensembl chr23:64,422,391...64,513,652 		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 2:1,277,963...1,284,925
Ensembl chr 2:1,274,813...1,284,944 		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 2:598,340...628,370
Ensembl chr 2:604,429...628,373 		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 2:632,572...647,618
Ensembl chr 2:633,042...647,613 		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 2:739,965...803,575
Ensembl chr 2:761,952...802,999 		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 2:491,618...494,446
Ensembl chr 2:491,096...493,147 		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 2:945,904...965,530
Ensembl chr 2:945,994...964,800 		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 chr 8:26,129,593...26,190,881 JBrowse link
G PBK PDZ binding kinase ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 8:25,921,124...25,943,349
Ensembl chr 8:25,921,133...25,943,062 		JBrowse link
G PNOC prepronociceptin ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 8:26,418,473...26,444,689
Ensembl chr 8:26,418,815...26,444,677 		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 2:686,413...687,865
Ensembl chr 2:686,129...687,892 		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 2:211,482...259,590
Ensembl chr 2:211,604...259,447 		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 2:667,440...676,380
Ensembl chr 2:667,510...676,109 		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 2:531,905...567,430
Ensembl chr 2:531,085...566,840 		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 2:260,273...266,808
Ensembl chr 2:261,551...265,400 		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 chr 8:25,741,988...25,779,224
Ensembl chr 8:25,742,127...25,782,247 		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 chr 8:25,975,310...26,097,312
Ensembl chr 8:25,975,122...26,097,102 		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 2:1,254,573...1,270,730
Ensembl chr 2:1,255,203...1,270,614 		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 2:487,282...490,957
Ensembl chr 2:483,483...490,435 		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 2:195,418...197,221 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 2:657,315...664,883
Ensembl chr 2:657,623...664,064 		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 2:567,440...584,080
Ensembl chr 2:573,912...584,276 		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 2:1,364,343...1,385,111 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 chr 2:529,470...531,798 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 2:343,782...359,474
Ensembl chr 2:342,247...359,295 		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 2:282,267...299,148
Ensembl chr 2:282,365...299,099 		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 2:985,373...1,010,533
Ensembl chr 2:985,425...1,012,091 		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 2:397,663...487,145
Ensembl chr 2:398,268...483,923 		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 2:494,547...520,081
Ensembl chr 2:494,771...519,519 		JBrowse link
G ZNF395 zinc finger protein 395 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 8:26,446,879...26,502,227
Ensembl chr 8:26,446,693...26,481,124 		JBrowse link
G ZNF512B zinc finger protein 512B ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 2:271,544...282,028
Ensembl chr 2:272,027...282,197 		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 5:26,805,070...26,833,043
Ensembl chr 5:26,801,753...26,833,199 		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 chr 5:26,838,280...26,841,918
Ensembl chr 5:26,839,454...26,841,916 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15416
    syndrome 10489
      infancy electroclinical syndrome 121
        benign familial infantile epilepsy 69
          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 56
Path 2
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  disease 15416
    disease of anatomical entity 15079
      nervous system disease 13232
        central nervous system disease 11823
          brain disease 11092
            epilepsy 2874
              electroclinical syndrome 1485
                infancy electroclinical syndrome 121
                  benign familial infantile epilepsy 69
                    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 56
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