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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 IAGP ClinVar Annotator: match by term: Benign familial infantile epilepsy ClinVar PMID:25741868 PMID:28492532 NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850 		JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 IAGP ClinVar Annotator: match by term: Benign familial infantile epilepsy
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 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310 		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 IAGP
EXP		 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 chr 8:27,459,756...27,479,261
Ensembl chr 8:27,459,756...27,479,883 		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 IAGP ClinVar Annotator: match by term: Seizures, benign familial infantile, 1 ClinVar PMID:37578743 NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310 		JBrowse link
benign familial infantile seizures 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MVP-DT MVP divergent transcript IAGP ClinVar Annotator: match by term: Seizures, benign familial infantile, 2
ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 2		 ClinVar PMID:2131349 PMID:9579893 PMID:11179027 PMID:11346027 PMID:12953268 More... NCBI chr16:29,808,644...29,820,367
Ensembl chr16:29,808,636...29,821,252 		JBrowse link
G PRRT2 proline rich transmembrane protein 2 IAGP ClinVar Annotator: match by term: Seizures, benign familial infantile, 2
ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 2		 ClinVar
OMIM		 PMID:2131349 PMID:9579893 PMID:11179027 PMID:11346027 PMID:12953268 More... NCBI chr16:29,812,193...29,815,881
Ensembl chr16:29,811,382...29,815,892 		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 IAGP ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591 		JBrowse link
G CSRNP3 cysteine and serine rich nuclear protein 3 IAGP ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:165,469,698...165,689,407
Ensembl chr 2:165,469,647...165,689,407 		JBrowse link
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 IAGP ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:165,747,588...165,794,692
Ensembl chr 2:165,747,588...165,846,201 		JBrowse link
G LOC100506124 uncharacterized LOC100506124 IAGP ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 2:165,857,475...165,871,941 JBrowse link
G LOC120977013 Sharpr-MPRA regulatory region 13511 IAGP ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 2:165,293,739...165,294,033 JBrowse link
G LOC126806396 BRD4-independent group 4 enhancer GRCh37_chr2:166317128-166318327 IAGP ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 2:165,460,618...165,461,817 JBrowse link
G LOC129388938 MPRA-validated peak3912 silencer IAGP ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 2:165,574,005...165,574,205 JBrowse link
G LOC129935043 ATAC-STARR-seq lymphoblastoid silent region 12066 IAGP ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 2:165,193,304...165,193,353 JBrowse link
G LOC129935044 ATAC-STARR-seq lymphoblastoid active region 16726 IAGP ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 2:165,595,066...165,595,115 JBrowse link
G LOC129935045 ATAC-STARR-seq lymphoblastoid active region 16727 IAGP ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 2:165,595,186...165,595,235 JBrowse link
G LOC129935046 ATAC-STARR-seq lymphoblastoid active region 16728 IAGP ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 2:165,874,554...165,874,753 JBrowse link
G LOC129935047 ATAC-STARR-seq lymphoblastoid active region 16729 IAGP ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 2:165,898,024...165,898,113 JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,182,806 		JBrowse link
G SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 IAGP ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 2:165,957,418...166,036,400
Ensembl chr 2:165,957,188...166,390,771 		JBrowse link
G SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 IAGP ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 2:166,081,531...166,301,784
Ensembl chr 2:165,957,188...166,390,771 		JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 IAGP
EXP		 DNA: missense mutation: exon 16 : p.N1001K
ClinVar Annotator: match by term: Seizures, benign familial infantile, 3
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		 ClinVar
CTD
OMIM
RGD		 PMID:2635020 PMID:3508699 PMID:6660252 PMID:9536098 PMID:11326335 More... RGD:13207596 NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310 		JBrowse link
G SCN3A sodium voltage-gated channel alpha subunit 3 IAGP ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:165,087,526...165,204,050
Ensembl chr 2:165,087,526...165,204,050 		JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 IAGP ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001 		JBrowse link
G TTC21B tetratricopeptide repeat domain 21B IAGP ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:165,873,362...165,953,776
Ensembl chr 2:165,857,475...165,953,851 		JBrowse link
G TTC21B-AS1 TTC21B antisense RNA 1 IAGP ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 2:165,933,857...165,948,321
Ensembl chr 2:165,933,749...165,949,891 		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 IAGP ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 5 ClinVar PMID:23020937 PMID:23934111 PMID:24851285 PMID:25740509 PMID:25741868 More... NCBI chr 8:132,120,861...132,481,095
Ensembl chr 8:132,120,861...132,481,095 		JBrowse link
G LOC114803470 SCN8A eExon liver enhancer IAGP ClinVar Annotator: match by term: Seizures, benign familial infantile, 5
ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 5		 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr12:51,662,737...51,663,319 JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 IAGP 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 chr12:51,591,233...51,812,864
Ensembl chr12:51,590,266...51,812,864 		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 IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,861,498...63,862,988
Ensembl chr20:63,861,498...63,862,988 		JBrowse link
G ADAR adenosine deaminase RNA specific IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013 		JBrowse link
G AL121827.1 novel transcript, antisense to CHRNA4 IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr20:63,359,988...63,371,177
Ensembl chr20:63,359,988...63,371,177 		JBrowse link
G ARFGAP1 ARF GTPase activating protein 1 IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr20:63,272,813...63,289,790
Ensembl chr20:63,272,785...63,289,790 		JBrowse link
G ARFRP1 ARF related protein 1 IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,698,647...63,707,976
Ensembl chr20:63,698,642...63,708,025 		JBrowse link
G BHLHE23 basic helix-loop-helix family member e23 IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr20:63,005,927...63,006,964
Ensembl chr20:63,005,927...63,007,035 		JBrowse link
G BIRC7 baculoviral IAP repeat containing 7 IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr20:63,235,905...63,240,495
Ensembl chr20:63,235,883...63,240,495 		JBrowse link
G CCDC25 coiled-coil domain containing 25 IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 8:27,733,316...27,772,640
Ensembl chr 8:27,733,316...27,772,653 		JBrowse link
G CHRNA2 cholinergic receptor nicotinic alpha 2 subunit IAGP 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 8:27,459,756...27,479,261
Ensembl chr 8:27,459,756...27,479,883 		JBrowse link
G CHRNA4 cholinergic receptor nicotinic alpha 4 subunit IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:3089211 PMID:7476881 PMID:7550350 PMID:7647781 PMID:8696332 More... NCBI chr20:63,343,223...63,361,349
Ensembl chr20:63,343,223...63,378,401 		JBrowse link
G CHRNB2 cholinergic receptor nicotinic beta 2 subunit IAGP 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 1:154,567,778...154,580,013
Ensembl chr 1:154,567,778...154,580,013 		JBrowse link
G CLU clusterin IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700 		JBrowse link
G COL20A1 collagen type XX alpha 1 chain IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr20:63,293,186...63,334,806
Ensembl chr20:63,293,186...63,334,851 		JBrowse link
G COL9A3 collagen type IX alpha 3 chain IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr20:62,816,213...62,841,159
Ensembl chr20:62,816,244...62,841,159 		JBrowse link
G CRH corticotropin releasing hormone IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:23086396 PMID:23593457 PMID:24395520 PMID:25741868 NCBI chr 8:66,176,376...66,178,464
Ensembl chr 8:66,176,376...66,178,464 		JBrowse link
G DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24283814 PMID:25366275 PMID:25741868 PMID:28492532 PMID:28549235 More... NCBI chr22:31,753,968...31,908,033
Ensembl chr22:31,753,867...31,908,033 		JBrowse link
G DIDO1 death inducer-obliterator 1 IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr20:62,877,743...62,937,904
Ensembl chr20:62,877,738...62,937,952 		JBrowse link
G DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,895,126...63,936,011
Ensembl chr20:63,895,126...63,936,031 		JBrowse link
G EEF1A2 eukaryotic translation elongation factor 1 alpha 2 IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 More... NCBI chr20:63,488,014...63,499,083
Ensembl chr20:63,488,013...63,499,239 		JBrowse link
G ELP3 elongator acetyltransferase complex subunit 3 IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 8:28,090,232...28,191,153
Ensembl chr 8:28,089,673...28,191,156 		JBrowse link
G EPHX2 epoxide hydrolase 2 IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 8:27,491,143...27,548,626
Ensembl chr 8:27,490,781...27,545,564 		JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640 		JBrowse link
G EXTL3 exostosin like glycosyltransferase 3 IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,756,561 		JBrowse link
G FBXO16 F-box protein 16 IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 8:28,428,412...28,490,229
Ensembl chr 8:28,348,287...28,490,278 		JBrowse link
G FNDC11 fibronectin type III domain containing 11 IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,553,020...63,556,708
Ensembl chr20:63,547,891...63,556,695 		JBrowse link
G FZD3 frizzled class receptor 3 IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 8:28,494,212...28,574,258
Ensembl chr 8:28,494,205...28,574,267 		JBrowse link
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:25741868 PMID:28492532 PMID:33391346 NCBI chr 5:162,067,465...162,155,539
Ensembl chr 5:162,000,057...162,162,977 		JBrowse link
G GID8 GID complex subunit 8 homolog IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr20:62,938,147...62,948,475
Ensembl chr20:62,938,147...62,948,475 		JBrowse link
G GMEB2 glucocorticoid modulatory element binding protein 2 IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,587,605...63,627,101
Ensembl chr20:63,587,602...63,627,101 		JBrowse link
G HAR1A highly accelerated region 1A IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr20:63,101,292...63,104,386
Ensembl chr20:63,102,205...63,104,421 		JBrowse link
G HAR1B highly accelerated region 1B IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr20:63,095,493...63,102,319
Ensembl chr20:63,090,806...63,102,631 		JBrowse link
G HELZ2 helicase with zinc finger 2 IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,558,086...63,574,239
Ensembl chr20:63,558,086...63,574,239 		JBrowse link
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 More... NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,208...63,472,677 		JBrowse link
G LIME1 Lck interacting transmembrane adaptor 1 IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,735,701...63,739,103
Ensembl chr20:63,736,283...63,739,103 		JBrowse link
G LOC126863087 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:61986832-61988031 IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:26467025 More... NCBI chr20:63,355,480...63,356,679 JBrowse link
G LOC129931511 ATAC-STARR-seq lymphoblastoid silent region 1363 IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 1:154,567,949...154,568,078 JBrowse link
G LOC130000523 ATAC-STARR-seq lymphoblastoid active region 27476 IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:23086396 PMID:23593457 PMID:24395520 PMID:25741868 NCBI chr 8:66,177,350...66,177,419 JBrowse link
G NKAIN4 sodium/potassium transporting ATPase interacting 4 IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr20:63,240,784...63,254,921
Ensembl chr20:63,240,784...63,272,694 		JBrowse link
G NUGGC nuclear GTPase, germinal center associated IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 8:28,021,964...28,083,936
Ensembl chr 8:28,021,964...28,083,936 		JBrowse link
G PBK PDZ binding kinase IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 8:27,809,624...27,837,817
Ensembl chr 8:27,809,624...27,838,082 		JBrowse link
G PNOC prepronociceptin IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 8:28,316,988...28,343,351
Ensembl chr 8:28,316,986...28,343,355 		JBrowse link
G PPDPF pancreatic progenitor cell differentiation and proliferation factor IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 More... NCBI chr20:63,520,741...63,522,206
Ensembl chr20:63,520,754...63,527,076 		JBrowse link
G PRPF6 pre-mRNA processing factor 6 IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr20:63,981,132...64,033,100
Ensembl chr20:63,981,132...64,033,100 		JBrowse link
G PTK6 protein tyrosine kinase 6 IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,528,001...63,537,376
Ensembl chr20:63,528,001...63,537,376 		JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253 		JBrowse link
G SAMD10 sterile alpha motif domain containing 10 IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr20:63,974,116...63,980,144
Ensembl chr20:63,974,116...63,980,008 		JBrowse link
G SCARA3 scavenger receptor class A member 3 IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 8:27,633,463...27,734,141
Ensembl chr 8:27,633,868...27,676,776 		JBrowse link
G SCARA5 scavenger receptor class A member 5 IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 8:27,869,883...27,992,673
Ensembl chr 8:27,869,883...27,992,673 		JBrowse link
G SLC17A9 solute carrier family 17 member 9 IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr20:62,952,709...62,969,585
Ensembl chr20:62,952,707...62,969,585 		JBrowse link
G SLC2A4RG SLC2A4 regulator IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,739,776...63,744,050
Ensembl chr20:63,739,776...63,744,050 		JBrowse link
G SOX18 SRY-box transcription factor 18 IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr20:64,047,582...64,049,639
Ensembl chr20:64,047,582...64,049,639 		JBrowse link
G SRMS src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,538,489...63,547,749
Ensembl chr20:63,538,489...63,547,749 		JBrowse link
G STMN3 stathmin 3 IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,639,712...63,653,424
Ensembl chr20:63,639,705...63,657,682 		JBrowse link
G TCFL5 transcription factor like 5 IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr20:62,841,005...62,861,822
Ensembl chr20:62,841,005...62,861,822 		JBrowse link
G TNFRSF6B TNF receptor superfamily member 6b IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,696,652...63,698,684
Ensembl chr20:63,696,652...63,698,684 		JBrowse link
G TPD52L2 TPD52 like 2 IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,865,270...63,891,538
Ensembl chr20:63,865,228...63,891,545 		JBrowse link
G UCKL1 uridine-cytidine kinase 1 like 1 IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr20:63,939,829...63,956,416
Ensembl chr20:63,939,829...63,956,416 		JBrowse link
G YTHDF1 YTH N6-methyladenosine RNA binding protein F1 IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr20:63,195,429...63,216,131
Ensembl chr20:63,195,429...63,216,139 		JBrowse link
G ZBTB46 zinc finger and BTB domain containing 46 IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,743,670...63,833,895
Ensembl chr20:63,743,668...63,832,038 		JBrowse link
G ZGPAT zinc finger CCCH-type and G-patch domain containing IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,707,442...63,736,142
Ensembl chr20:63,707,465...63,736,142 		JBrowse link
G ZNF395 zinc finger protein 395 IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 8:28,345,590...28,386,460
Ensembl chr 8:28,345,590...28,402,701 		JBrowse link
G ZNF512B zinc finger protein 512B IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr20:63,956,704...63,969,930
Ensembl chr20:63,956,704...63,969,930 		JBrowse link
Familial Infantile Convulsions and Paroxysmal Choreoathetosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130058793 ATAC-STARR-seq lymphoblastoid active region 10682 IAGP ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial ClinVar PMID:25741868 NCBI chr16:29,825,128...29,825,207 JBrowse link
G LOC130058794 ATAC-STARR-seq lymphoblastoid active region 10683 IAGP ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial ClinVar PMID:25741868 NCBI chr16:29,825,268...29,825,397 JBrowse link
G MVP major vault protein IAGP ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial ClinVar PMID:25741868 NCBI chr16:29,820,394...29,848,039
Ensembl chr16:29,820,394...29,848,039 		JBrowse link
G MVP-DT MVP divergent transcript IAGP ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial
ClinVar Annotator: match by term: PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS
ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial | ClinVar Annotator: match by term: PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS		 ClinVar PMID:11179027 PMID:11346027 PMID:16199547 PMID:18414213 PMID:20301633 More... NCBI chr16:29,808,644...29,820,367
Ensembl chr16:29,808,636...29,821,252 		JBrowse link
G PRRT2 proline rich transmembrane protein 2 IAGP
EXP		 ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial
ClinVar Annotator: match by term: PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS
ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial | ClinVar Annotator: match by term: PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:11179027 PMID:11346027 PMID:16199547 PMID:18414213 PMID:20301633 More... NCBI chr16:29,812,193...29,815,881
Ensembl chr16:29,811,382...29,815,892 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 145369
    syndrome 38717
      infancy electroclinical syndrome 148
        benign familial infantile epilepsy 91
          Familial Infantile Convulsions and Paroxysmal Choreoathetosis 5
          autosomal dominant nocturnal frontal lobe epilepsy 4 1
          benign familial infantile seizures 1 1
          benign familial infantile seizures 2 2
          benign familial infantile seizures 3 20
          benign familial infantile seizures 4 0
          benign familial infantile seizures 5 3
          benign familial infantile seizures 6 62
Path 2
Term Annotations click to browse term
  disease 145369
    disease of anatomical entity 132557
      nervous system disease 70715
        central nervous system disease 50806
          brain disease 48114
            epilepsy 4024
              electroclinical syndrome 1963
                infancy electroclinical syndrome 148
                  benign familial infantile epilepsy 91
                    Familial Infantile Convulsions and Paroxysmal Choreoathetosis 5
                    autosomal dominant nocturnal frontal lobe epilepsy 4 1
                    benign familial infantile seizures 1 1
                    benign familial infantile seizures 2 2
                    benign familial infantile seizures 3 20
                    benign familial infantile seizures 4 0
                    benign familial infantile seizures 5 3
                    benign familial infantile seizures 6 62
paths to the root