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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:infancy electroclinical syndrome
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Accession:DOID:0050703 term browser browse the term
Definition:An electroclinical syndrome with onset in infancy occurring between birth and one year of age. (DO)



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autosomal dominant nocturnal frontal lobe epilepsy 4 term browser
Symbol Object Name Qualifiers 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 epilepsy term browser
Symbol Object Name Qualifiers 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 seizures
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
benign familial infantile seizures 1 term browser
Symbol Object Name Qualifiers 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:26132555 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 Qualifiers 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
EXP
ClinVar Annotator: match by term: Seizures, benign familial infantile, 2
ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 2
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
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 Qualifiers 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...165,794,659
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...
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...
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...
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...
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...
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...166,149,214
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
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 2:165,933,857...165,949,891
JBrowse link
benign familial infantile seizures 5 term browser
Symbol Object Name Qualifiers 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:25740509 PMID:25741868 PMID:26350515 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: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 5 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:51,662,737...51,663,319 JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 IAGP
EXP
ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 5
ClinVar Annotator: match by term: Seizures, benign familial infantile, 5
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
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 Qualifiers 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:25921748 PMID:28492532 NCBI chr20:63,861,498...63,862,988
Ensembl chr20:63,861,498...63,862,988
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 ADP ribosylation factor 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 ADP ribosylation factor related protein 1 IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:25921748 PMID:28492532 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:17576681 PMID:18414213 PMID:21703448 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 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:25921748 PMID:28492532 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:25921748 PMID:28492532 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:25921748 PMID:28492532 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...63,104,386
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:25921748 PMID:28492532 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:25921748 PMID:28492532 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:25741868 PMID:26467025 PMID:28492532 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
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 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 chr20:63,520,765...63,522,206
JBrowse link
G PTK6 protein tyrosine kinase 6 IAGP ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:25921748 PMID:28492532 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:25921748 PMID:28492532 NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253
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:25921748 PMID:28492532 NCBI chr20:63,739,776...63,744,050
Ensembl chr20:63,739,776...63,744,050
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:25921748 PMID:28492532 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:25921748 PMID:28492532 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:25921748 PMID:28492532 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:25921748 PMID:28492532 NCBI chr20:63,865,270...63,891,538
Ensembl chr20:63,865,228...63,891,545
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:25921748 PMID:28492532 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:25921748 PMID:28492532 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
Dravet syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CGN cingulin IAGP ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 1:151,510,170...151,538,692
Ensembl chr 1:151,510,510...151,538,692
JBrowse link
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 IAGP ClinVar Annotator: match by term: Dravet syndrome ClinVar NCBI chr 5:162,067,465...162,155,539
Ensembl chr 5:162,000,057...162,162,977
JBrowse link
G LOC129931442 ATAC-STARR-seq lymphoblastoid silent region 1324 IAGP ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:25741868 PMID:28492532
G LYSMD1 LysM domain containing 1 IAGP ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 1:151,148,496...151,165,902
Ensembl chr 1:151,159,748...151,165,948
JBrowse link
G PI4KB phosphatidylinositol 4-kinase beta IAGP ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 1:151,291,797...151,327,715
Ensembl chr 1:151,291,797...151,327,715
JBrowse link
G PIP5K1A phosphatidylinositol-4-phosphate 5-kinase type 1 alpha IAGP ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 1:151,195,419...151,249,531
Ensembl chr 1:151,197,949...151,249,536
JBrowse link
G POGZ pogo transposable element derived with ZNF domain IAGP ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 1:151,402,724...151,459,494
Ensembl chr 1:151,402,724...151,459,494
JBrowse link
G PSMB4 proteasome 20S subunit beta 4 IAGP ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 1:151,399,573...151,401,937
Ensembl chr 1:151,399,560...151,401,937
JBrowse link
G PSMD4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 IAGP ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 1:151,254,734...151,267,479
Ensembl chr 1:151,254,709...151,267,479
JBrowse link
G RFX5 regulatory factor X5 IAGP ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 1:151,340,640...151,347,252
Ensembl chr 1:151,340,640...151,347,326
JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP
ISS
ClinVar Annotator: match by term: Dravet syndrome
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6A
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 6
OMIM:607208
ClinVar
MouseDO
OMIM
PMID:1893009 PMID:1893099 PMID:9536098 PMID:9573403 PMID:10486327 More... NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214
JBrowse link
G SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 IAGP ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar Annotator: match by term: Dravet syndrome
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6A
ClinVar PMID:1893009 PMID:9536098 PMID:9573403 PMID:10486327 PMID:10742094 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: Severe myoclonic epilepsy in infancy ClinVar PMID:21698661 PMID:23895530 PMID:25250524 PMID:25741868 PMID:26467025 More... NCBI chr 2:166,081,531...166,301,784
Ensembl chr 2:165,957,188...166,390,771
JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 IAGP ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449
JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 IAGP ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310
JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 IAGP ClinVar Annotator: match by term: Dravet syndrome
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar PMID:19763161 PMID:21698661 PMID:22136189 PMID:23280954 PMID:23895530 More... NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001
JBrowse link
G SCNM1 sodium channel modifier 1 IAGP ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 1:151,166,144...151,170,296
Ensembl chr 1:151,156,664...151,170,296
JBrowse link
G SELENBP1 selenium binding protein 1 IAGP ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 1:151,364,304...151,372,705
Ensembl chr 1:151,364,304...151,372,707
JBrowse link
G SNX27 sorting nexin 27 IAGP ClinVar Annotator: match by term: Dravet syndrome
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:25894286 PMID:28492532 More... NCBI chr 1:151,612,050...151,699,080
Ensembl chr 1:151,612,006...151,699,091
JBrowse link
G TMOD4 tropomodulin 4 IAGP ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 1:151,169,987...151,175,981
Ensembl chr 1:151,169,986...151,176,284
JBrowse link
G TNFAIP8L2 TNF alpha induced protein 8 like 2 IAGP ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 1:151,156,649...151,159,749
Ensembl chr 1:151,156,649...151,159,749
JBrowse link
G TUFT1 tuftelin 1 IAGP ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 1:151,540,309...151,583,583
Ensembl chr 1:151,540,305...151,583,583
JBrowse link
G VPS72 vacuolar protein sorting 72 homolog IAGP ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 1:151,176,304...151,190,197
Ensembl chr 1:151,176,304...151,195,321
JBrowse link
G ZNF687 zinc finger protein 687 IAGP ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 1:151,281,522...151,292,176
Ensembl chr 1:151,281,618...151,292,176
JBrowse link
Familial Infantile Convulsions and Paroxysmal Choreoathetosis term browser
Symbol Object Name Qualifiers 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: Infantile convulsions and 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: PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS
ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial
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: Infantile convulsions and 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
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
Norrie disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FZD4 frizzled class receptor 4 ISS
IAGP
OMIM:310600
ClinVar Annotator: match by term: Atrophia bulborum hereditaria
MouseDO
ClinVar
PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 More... NCBI chr11:86,945,679...86,955,395
Ensembl chr11:86,945,679...86,955,395
JBrowse link
G NDP norrin cystine knot growth factor NDP IAGP
ISS
EXP
ClinVar Annotator: match by term: Atrophia bulborum hereditaria
OMIM:310600
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
PMID:1303235 PMID:1303264 PMID:1307245 PMID:7558002 PMID:7627181 More... NCBI chr  X:43,948,776...43,973,390
Ensembl chr  X:43,948,776...43,973,395
JBrowse link
G NDP-AS1 NDP antisense RNA 1 IAGP ClinVar Annotator: match by term: Atrophia bulborum hereditaria ClinVar PMID:1303235 PMID:1303264 PMID:1307245 PMID:7558002 PMID:7627181 More... NCBI chr  X:43,949,732...43,971,552
Ensembl chr  X:43,949,732...43,971,582
JBrowse link
G PRSS23 serine protease 23 IAGP ClinVar Annotator: match by term: Atrophia bulborum hereditaria ClinVar PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 More... NCBI chr11:86,791,071...86,952,910
Ensembl chr11:86,791,059...86,952,910
JBrowse link
G TSPAN12 tetraspanin 12 IAGP ClinVar Annotator: match by term: Atrophia bulborum hereditaria ClinVar PMID:25250762 NCBI chr 7:120,787,320...120,858,335
Ensembl chr 7:120,787,320...120,858,402
JBrowse link
PEHO syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC88A coiled-coil domain containing 88A IAGP ClinVar Annotator: match by term: Peho-like syndrome
ClinVar Annotator: match by term: PEHO-like syndrome
ClinVar Annotator: match by term: PEHO syndrome
ClinVar PMID:25741868 PMID:26917597 PMID:28492532 NCBI chr 2:55,287,842...55,419,856
Ensembl chr 2:55,287,842...55,419,895
JBrowse link
G IGF1 insulin like growth factor 1 IEP protein:decreased expression:cerebrospinal fluid: RGD PMID:11701291 RGD:8548849 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744
JBrowse link
G KIF1A kinesin family member 1A IAGP ClinVar Annotator: match by term: PEHO syndrome ClinVar PMID:21376300 PMID:25253658 PMID:25265257 PMID:25533962 PMID:25741868 More... NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293
JBrowse link
G ZNHIT3 zinc finger HIT-type containing 3 IAGP
EXP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PEHO syndrome
OMIM
CTD
ClinVar
PMID:25741868 PMID:28335020 PMID:28492532 PMID:31048081 NCBI chr17:36,486,681...36,499,312
Ensembl chr17:36,486,629...36,499,310
JBrowse link
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TBC1D24 TBC1 domain family member 24 IAGP
EXP
ClinVar Annotator: match by term: Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
ClinVar Annotator: match by term: Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:10072049 PMID:18414213 PMID:20727515 PMID:23526554 PMID:24033266 More... NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,560
JBrowse link
West syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase treatment ISO RGD PMID:24321005 RGD:9588540 NCBI chr16:8,674,617...8,784,570
Ensembl chr16:8,674,596...8,784,575
JBrowse link
G ARX aristaless related homeobox ISO RGD PMID:19439424 RGD:11565833 NCBI chr  X:25,003,694...25,015,965
Ensembl chr  X:25,003,694...25,016,420
JBrowse link
G CDKL5 cyclin dependent kinase like 5 IAGP ClinVar Annotator: match by term: West syndrome
ClinVar Annotator: match by term: Infantile spasms
ClinVar PMID:16813600 PMID:18414213 PMID:18790821 PMID:21775177 PMID:22867051 More... NCBI chr  X:18,425,608...18,653,629
Ensembl chr  X:18,425,583...18,653,629
JBrowse link
G CFL1 cofilin 1 ISO protein:decreased expression:brain (rat) RGD PMID:24994451 RGD:11570411 NCBI chr11:65,854,673...65,858,180
Ensembl chr11:65,823,022...65,862,026
JBrowse link
G CRH corticotropin releasing hormone EXP CTD Direct Evidence: marker/mechanism CTD PMID:11341487 NCBI chr 8:66,176,376...66,178,464
Ensembl chr 8:66,176,376...66,178,464
JBrowse link
G DNM1 dynamin 1 IAGP ClinVar Annotator: match by term: West syndrome ClinVar PMID:25741868 NCBI chr 9:128,203,379...128,255,244
Ensembl chr 9:128,191,655...128,255,248
JBrowse link
G GAD1 glutamate decarboxylase 1 IAGP ClinVar Annotator: match by term: Infantile spasms ClinVar PMID:22662185 PMID:28492532 NCBI chr 2:170,813,210...170,861,151
Ensembl chr 2:170,813,213...170,861,151
JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16919904 NCBI chr 5:119,452,497...119,542,332
Ensembl chr 5:119,452,465...119,637,199
JBrowse link
G LOC120977013 Sharpr-MPRA regulatory region 13511 IAGP ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant ClinVar NCBI chr 2:165,293,739...165,294,033 JBrowse link
G LOC130004439 ATAC-STARR-seq lymphoblastoid active region 3829 IAGP ClinVar Annotator: match by term: Infantile spasms ClinVar PMID:28492532 NCBI chr10:96,645,472...96,645,541 JBrowse link
G LOC130004450 ATAC-STARR-seq lymphoblastoid silent region 2658 IAGP ClinVar Annotator: match by term: Infantile spasms ClinVar PMID:9536098 PMID:17576681 PMID:28492532 NCBI chr10:96,720,276...96,720,525 JBrowse link
G LOC130065410 ATAC-STARR-seq lymphoblastoid silent region 12669 IAGP ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Recessive ClinVar PMID:25741868 PMID:28492532 NCBI chr20:8,722,418...8,722,467 JBrowse link
G MAST4 microtubule associated serine/threonine kinase family member 4 IAGP ClinVar Annotator: match by term: Infantile spasms ClinVar NCBI chr 5:66,596,393...67,169,593
Ensembl chr 5:66,596,380...67,169,593
JBrowse link
G MC2R melanocortin 2 receptor IAGP DNA:snps:promoter:multiple (human) RGD PMID:19024088 RGD:6484693 NCBI chr18:13,882,044...13,915,707
Ensembl chr18:13,882,044...13,915,707
JBrowse link
G PIK3AP1 phosphoinositide-3-kinase adaptor protein 1 IAGP ClinVar Annotator: match by term: Infantile spasms
ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant
ClinVar PMID:9536098 PMID:17576681 PMID:25262651 PMID:25741868 PMID:28492532 NCBI chr10:96,593,315...96,720,514
Ensembl chr10:96,593,315...96,720,514
JBrowse link
G PLCB1 phospholipase C beta 1 IAGP ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Recessive ClinVar PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr20:8,132,266...8,884,900
Ensembl chr20:8,077,251...8,968,360
JBrowse link
G POMC proopiomelanocortin EXP CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:1324751 PMID:1327015 PMID:1656808 PMID:1965992 PMID:2551692 More... NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903
JBrowse link
G RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 IAGP ClinVar Annotator: match by term: Infantile spasms ClinVar PMID:32004447 NCBI chr14:35,538,356...35,809,295
Ensembl chr14:35,538,352...35,809,304
JBrowse link
G RS1 retinoschisin 1 IAGP ClinVar Annotator: match by term: West syndrome ClinVar PMID:16813600 PMID:18414213 PMID:21775177 PMID:22867051 PMID:25741868 More... NCBI chr  X:18,639,688...18,672,108
Ensembl chr  X:18,639,688...18,672,108
JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP ClinVar Annotator: match by term: West syndrome
ClinVar Annotator: match by term: Infantile spasm
ClinVar PMID:14504318 PMID:18930999 PMID:19563458 PMID:20452746 PMID:22848613 More... NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214
JBrowse link
G SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 IAGP ClinVar Annotator: match by term: West syndrome
ClinVar Annotator: match by term: Infantile spasm
ClinVar PMID:14504318 PMID:18930999 PMID:19563458 PMID:20452746 PMID:22848613 More... NCBI chr 2:165,957,418...166,036,400
Ensembl chr 2:165,957,188...166,390,771
JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 IAGP ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant
ClinVar Annotator: match by term: Infantile spasms
ClinVar Annotator: match by term: West syndrome
ClinVar PMID:18414213 PMID:19786696 PMID:20956790 PMID:23550958 PMID:23708187 More... NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310
JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 IAGP ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant ClinVar NCBI chr12:51,591,233...51,812,864
Ensembl chr12:51,590,266...51,812,864
JBrowse link
G SLC25A22 solute carrier family 25 member 22 IAGP ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Recessive ClinVar PMID:28492532 NCBI chr11:790,475...798,281
Ensembl chr11:790,475...798,281
JBrowse link
G SPTAN1 spectrin alpha, non-erythrocytic 1 IAGP ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:128,552,587...128,633,662
Ensembl chr 9:128,552,558...128,633,662
JBrowse link
G STXBP1 syntaxin binding protein 1 IAGP DNA:missense mutations, nonsense mutation, splice-site mutations:exon, intron:multiple
ClinVar Annotator: match by term: West syndrome
ClinVar Annotator: match by term: Infantile spasm
ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant
ClinVar
RGD
PMID:20887364 PMID:21193638 PMID:22612257 PMID:23934111 PMID:25326390 More... RGD:12903963 NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027
JBrowse link
G TRPM4 transient receptor potential cation channel subfamily M member 4 IAGP ClinVar Annotator: match by term: Hypsarrhythmia ClinVar PMID:25741868 PMID:28492532 NCBI chr19:49,157,792...49,211,836
Ensembl chr19:49,157,741...49,211,836
JBrowse link
G TSC1 TSC complex subunit 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18345974 NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874
JBrowse link
G TSC2 TSC complex subunit 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18345974 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
JBrowse link
G TUBA1A tubulin alpha 1a IAGP ClinVar Annotator: match by term: West syndrome ClinVar PMID:25741868 PMID:26130693 NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,080
JBrowse link
G UPB1 beta-ureidopropionase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18853477 NCBI chr22:24,495,332...24,528,390
Ensembl chr22:24,494,107...24,528,390
JBrowse link
G WWOX WW domain containing oxidoreductase IAGP ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Recessive ClinVar PMID:25411445 PMID:25741868 PMID:28492532 PMID:29808465 PMID:30356099 More... NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 40760
    syndrome 17742
      infancy electroclinical syndrome 139
        Dravet syndrome 24
        Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome 1
        West syndrome + 41
        benign familial infantile epilepsy + 85
Path 2
Term Annotations click to browse term
  disease 40760
    disease of anatomical entity 32068
      nervous system disease 25939
        central nervous system disease 23176
          brain disease 21615
            epilepsy 3644
              electroclinical syndrome 1758
                infancy electroclinical syndrome 139
                  Dravet syndrome 24
                  Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome 1
                  West syndrome + 41
                  benign familial infantile epilepsy + 85
paths to the root