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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:neonatal period electroclinical syndrome
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Accession:DOID:0050702 term browser browse the term
Definition:An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age. (DO)
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Autosomal Recessive Infantile Epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TNK2 tyrosine kinase non receptor 2 ISO ClinVar Annotator: match by term: Autosomal recessive infantile epilepsy ClinVar PMID:23686771 PMID:25741868 PMID:26595808 NCBI chr 3:193,254,017...193,302,863 JBrowse link
Benign Familial Infantile Seizures, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRRT2 proline rich transmembrane protein 2 ISO OMIM Ensembl chr16:30,183,352...30,187,862 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 ISO ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar NCBI chr 1:135,469,495...135,497,303
Ensembl chr 1:139,390,549...139,418,303
JBrowse link
G CSRNP3 cysteine and serine rich nuclear protein 3 ISO ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr2B:52,744,717...52,962,741
Ensembl chr2B:170,122,687...170,311,348
JBrowse link
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr2B:53,014,933...53,066,330
Ensembl chr2B:170,335,216...170,539,231
JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr2B:53,258,614...53,348,131
Ensembl chr2B:170,736,651...170,822,014
JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 ISO OMIM NCBI chr2B:52,514,918...52,667,225
Ensembl chr2B:169,928,323...170,027,509
JBrowse link
G SCN3A sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr2B:52,363,020...52,479,818
Ensembl chr2B:169,722,134...169,838,590
JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr2B:53,468,290...53,643,747
Ensembl chr2B:170,944,974...171,054,013
JBrowse link
G TTC21B tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr2B:53,140,199...53,220,535
Ensembl chr2B:170,616,444...170,699,471
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 ISO ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 5 ClinVar PMID:23020937 PMID:23934111 PMID:25740509 PMID:25741868 PMID:26350515 More... NCBI chr 8:128,769,930...129,134,671
Ensembl chr 8:131,755,454...131,815,237
JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 ISO OMIM NCBI chr12:36,950,057...37,172,235
Ensembl chr12:37,730,900...37,876,357
JBrowse link
benign familial neonatal epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCN4 cellular communication network factor 4 ISO ClinVar Annotator: match by term: Benign familial neonatal seizures ClinVar PMID:28492532 PMID:29383681 PMID:29852413 NCBI chr 8:129,842,580...129,884,528
Ensembl chr 8:132,818,397...132,858,861
JBrowse link
G CSRNP3 cysteine and serine rich nuclear protein 3 ISO ClinVar Annotator: match by term: Benign familial infantile convulsions ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr2B:52,744,717...52,962,741
Ensembl chr2B:170,122,687...170,311,348
JBrowse link
G DNAAF11 dynein axonemal assembly factor 11 ISO ClinVar Annotator: match by term: Benign familial neonatal seizures ClinVar PMID:28492532 PMID:29383681 PMID:29852413 NCBI chr 8:129,223,591...129,329,535
Ensembl chr 8:132,199,607...132,305,351
JBrowse link
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Benign familial infantile convulsions ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr2B:53,014,933...53,066,330
Ensembl chr2B:170,335,216...170,539,231
JBrowse link
G KCNQ3 potassium voltage-gated channel subfamily Q member 3 ISO ClinVar Annotator: match by term: Benign familial neonatal seizures
ClinVar Annotator: match by term: Benign familial neonatal-infantile seizures
ClinVar PMID:9425900 PMID:9536098 PMID:14534157 PMID:16199547 PMID:16235065 More... NCBI chr 8:128,769,930...129,134,671
Ensembl chr 8:131,755,454...131,815,237
JBrowse link
G NDRG1 N-myc downstream regulated 1 ISO ClinVar Annotator: match by term: Benign familial neonatal seizures ClinVar PMID:28492532 PMID:29383681 PMID:29852413 NCBI chr 8:129,891,918...129,952,489
Ensembl chr 8:132,866,245...132,926,514
JBrowse link
G PHF20L1 PHD finger protein 20 like 1 ISO ClinVar Annotator: match by term: Benign familial neonatal seizures ClinVar PMID:28492532 PMID:29383681 PMID:29852413 NCBI chr 8:129,427,157...129,500,633
Ensembl chr 8:132,403,053...132,474,452
JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Benign familial infantile convulsions ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr2B:53,258,614...53,348,131
Ensembl chr2B:170,736,651...170,822,014
JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Benign familial neonatal-infantile seizures
ClinVar Annotator: match by term: Benign familial neonatal seizures
ClinVar Annotator: match by term: Benign familial infantile convulsions
ClinVar PMID:11738931 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr2B:52,514,918...52,667,225
Ensembl chr2B:169,928,323...170,027,509
JBrowse link
G SCN3A sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Benign familial infantile convulsions ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr2B:52,363,020...52,479,818
Ensembl chr2B:169,722,134...169,838,590
JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Benign familial infantile convulsions ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr2B:53,468,290...53,643,747
Ensembl chr2B:170,944,974...171,054,013
JBrowse link
G SLA Src like adaptor ISO ClinVar Annotator: match by term: Benign familial neonatal seizures ClinVar PMID:28492532 PMID:29383681 PMID:29852413 NCBI chr 8:129,690,546...129,757,660
Ensembl chr 8:132,666,411...132,732,669
JBrowse link
G TG thyroglobulin ISO ClinVar Annotator: match by term: Benign familial neonatal seizures ClinVar PMID:28492532 PMID:29383681 PMID:29852413 NCBI chr 8:129,519,431...129,789,699
Ensembl chr 8:132,495,516...132,764,918
JBrowse link
G TMEM71 transmembrane protein 71 ISO ClinVar Annotator: match by term: Benign familial neonatal seizures ClinVar PMID:28492532 PMID:29383681 PMID:29852413 NCBI chr 8:129,363,661...129,429,101
Ensembl chr 8:132,339,621...132,388,523
JBrowse link
G TTC21B tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Benign familial infantile convulsions
ClinVar Annotator: match by term: Benign familial neonatal seizures
ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr2B:53,140,199...53,220,535
Ensembl chr2B:170,616,444...170,699,471
JBrowse link
Benign Familial Neonatal Seizures, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Benign familial neonatal seizures 1 ClinVar NCBI chr19:38,854,243...38,882,034 JBrowse link
Benign Familial Neonatal Seizures, 2 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 ISO OMIM NCBI chr 8:128,769,930...129,134,671
Ensembl chr 8:131,755,454...131,815,237
JBrowse link
benign neonatal seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH7A1 aldehyde dehydrogenase 7 family member A1 ISO ClinVar Annotator: match by term: neonatal seizures ClinVar PMID:16199547 PMID:16491085 PMID:20554659 PMID:21733724 PMID:25741868 More... NCBI chr 5:121,946,527...122,000,273 JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 ISO RGD PMID:12953268 RGD:1358436 NCBI chr 1:135,469,495...135,497,303
Ensembl chr 1:139,390,549...139,418,303
JBrowse link
G CSRNP3 cysteine and serine rich nuclear protein 3 ISO ClinVar Annotator: match by term: Epilepsy, benign neonatal-infantile ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr2B:52,744,717...52,962,741
Ensembl chr2B:170,122,687...170,311,348
JBrowse link
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Epilepsy, benign neonatal-infantile ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr2B:53,014,933...53,066,330
Ensembl chr2B:170,335,216...170,539,231
JBrowse link
G KCNQ3 potassium voltage-gated channel subfamily Q member 3 ISO ClinVar Annotator: match by term: Benign Neonatal Epilepsy
ClinVar Annotator: match by term: Benign familial neonatal seizures
ClinVar PMID:16235065 PMID:17765802 PMID:18625963 PMID:19344764 PMID:21703448 More... NCBI chr 8:128,769,930...129,134,671
Ensembl chr 8:131,755,454...131,815,237
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: neonatal seizures ClinVar PMID:14635118 PMID:16919951 PMID:20185557 PMID:21357833 PMID:21550804 More... NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739
JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Epilepsy, benign neonatal-infantile ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr2B:53,258,614...53,348,131
Ensembl chr2B:170,736,651...170,822,014
JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Epilepsy, benign neonatal-infantile
ClinVar Annotator: match by term: Benign Neonatal Epilepsy
ClinVar PMID:11738931 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr2B:52,514,918...52,667,225
Ensembl chr2B:169,928,323...170,027,509
JBrowse link
G SCN3A sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Epilepsy, benign neonatal-infantile ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr2B:52,363,020...52,479,818
Ensembl chr2B:169,722,134...169,838,590
JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Epilepsy, benign neonatal-infantile ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr2B:53,468,290...53,643,747
Ensembl chr2B:170,944,974...171,054,013
JBrowse link
G TTC21B tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Epilepsy, benign neonatal-infantile ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr2B:53,140,199...53,220,535
Ensembl chr2B:170,616,444...170,699,471
JBrowse link
congenital disorder of glycosylation type IIm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1F calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:41,504,804...41,533,501
Ensembl chr  X:49,356,994...49,385,678
JBrowse link
G CCDC120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar Annotator: match by term: SLC35A2-CDG
ClinVar PMID:28492532 NCBI chr  X:41,341,834...41,367,761
Ensembl chr  X:49,207,391...49,223,552
JBrowse link
G CCDC22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:41,535,439...41,550,547
Ensembl chr  X:49,387,980...49,402,742
JBrowse link
G CLCN5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:42,137,523...42,299,716
Ensembl chr  X:49,854,165...50,006,363
JBrowse link
G EBP EBP cholestenol delta-isomerase ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:40,820,042...40,826,957 JBrowse link
G ERAS ES cell expressed Ras ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar Annotator: match by term: SLC35A2-CDG
ClinVar PMID:28492532 NCBI chr  X:41,125,895...41,127,757
Ensembl chr  X:48,986,812...48,987,513
JBrowse link
G FOXP3 forkhead box P3 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:41,550,462...41,567,492
Ensembl chr  X:49,402,652...49,417,029
JBrowse link
G GATA1 GATA binding protein 1 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar Annotator: match by term: SLC35A2-CDG
ClinVar PMID:28492532 NCBI chr  X:41,088,724...41,092,190
Ensembl chr  X:48,945,394...48,953,126
JBrowse link
G GLOD5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar Annotator: match by term: SLC35A2-CDG
ClinVar PMID:28492532 NCBI chr  X:41,060,152...41,071,654
Ensembl chr  X:48,920,747...48,932,442
JBrowse link
G GPKOW G-patch domain and KOW motifs ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:41,413,165...41,423,780
Ensembl chr  X:49,267,657...49,278,495
JBrowse link
G GRIPAP1 GRIP1 associated protein 1 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar Annotator: match by term: SLC35A2-CDG
ClinVar PMID:28492532 NCBI chr  X:41,271,762...41,300,327
Ensembl chr  X:49,128,760...49,157,059
JBrowse link
G HDAC6 histone deacetylase 6 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar Annotator: match by term: SLC35A2-CDG
ClinVar PMID:28492532 NCBI chr  X:41,099,539...41,122,650
Ensembl chr  X:48,960,430...48,982,642
JBrowse link
G KCND1 potassium voltage-gated channel subfamily D member 1 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar Annotator: match by term: SLC35A2-CDG
ClinVar PMID:28492532 NCBI chr  X:41,258,803...41,270,036
Ensembl chr  X:49,115,933...49,127,030
JBrowse link
G OTUD5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar Annotator: match by term: SLC35A2-CDG
ClinVar PMID:28492532 NCBI chr  X:41,219,536...41,256,219 JBrowse link
G PAGE4 PAGE family member 4 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:42,044,199...42,048,954
Ensembl chr  X:49,758,858...49,763,611
JBrowse link
G PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar Annotator: match by term: SLC35A2-CDG
ClinVar PMID:28492532 NCBI chr  X:41,128,785...41,133,284
Ensembl chr  X:48,988,948...48,990,028
JBrowse link
G PIM2 Pim-2 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar Annotator: match by term: SLC35A2-CDG
ClinVar PMID:28492532 NCBI chr  X:41,210,494...41,216,552
Ensembl chr  X:49,068,721...49,074,731
JBrowse link
G PLP2 proteolipid protein 2 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr 5:175,735,372...175,735,931 JBrowse link
G PPP1R3F protein phosphatase 1 regulatory subunit 3F ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:41,569,825...41,587,523 JBrowse link
G PQBP1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar Annotator: match by term: SLC35A2-CDG
ClinVar PMID:28492532 NCBI chr  X:41,188,244...41,200,312
Ensembl chr  X:49,053,030...49,058,585
JBrowse link
G PRAF2 PRA1 domain family member 2 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar Annotator: match by term: SLC35A2-CDG
ClinVar PMID:28492532 NCBI chr  X:41,369,432...41,372,322
Ensembl chr  X:49,224,864...49,233,960
JBrowse link
G PRICKLE3 prickle planar cell polarity protein 3 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:41,474,569...41,486,986
Ensembl chr  X:49,327,145...49,338,613
JBrowse link
G RBM3 RNA binding motif protein 3 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:40,872,745...40,876,611
Ensembl chr  X:48,734,777...48,738,077
JBrowse link
G SUV39H1 SUV39H1 histone lysine methyltransferase ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar Annotator: match by term: SLC35A2-CDG
ClinVar PMID:28492532 NCBI chr  X:40,993,911...41,007,362
Ensembl chr  X:48,855,494...48,868,131
JBrowse link
G SYP synaptophysin ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:41,487,538...41,500,039
Ensembl chr  X:49,340,021...49,352,420
JBrowse link
G TBC1D25 TBC1 domain family member 25 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:40,837,887...40,860,885
Ensembl chr  X:48,701,740...48,724,366
JBrowse link
G TFE3 transcription factor binding to IGHM enhancer 3 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar Annotator: match by term: SLC35A2-CDG
ClinVar PMID:28492532 NCBI chr  X:41,326,802...41,341,574
Ensembl chr  X:49,182,795...49,197,194
JBrowse link
G TIMM17B translocase of inner mitochondrial membrane 17B ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar Annotator: match by term: SLC35A2-CDG
ClinVar PMID:28492532 NCBI chr  X:41,191,130...41,195,561
Ensembl chr  X:49,049,175...49,053,452
JBrowse link
G USP27X ubiquitin specific peptidase 27 X-linked ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:42,093,799...42,097,346
Ensembl chr  X:49,809,559...49,810,875
JBrowse link
G WAS WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar Annotator: match by term: SLC35A2-CDG
ClinVar PMID:28492532 NCBI chr  X:40,982,132...40,989,767
Ensembl chr  X:48,842,765...48,850,380
JBrowse link
G WDR13 WD repeat domain 13 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:40,895,793...40,907,183
Ensembl chr  X:48,757,416...48,765,111
JBrowse link
G WDR45 WD repeat domain 45 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar Annotator: match by term: SLC35A2-CDG
ClinVar PMID:28492532 NCBI chr  X:41,372,722...41,400,441
Ensembl chr  X:49,224,864...49,233,960
JBrowse link
developmental and epileptic encephalopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA3 ATP binding cassette subfamily A member 3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr16:1,132,435...1,196,226
Ensembl chr16:2,376,006...2,437,427
JBrowse link
G ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:100,794,882...100,874,083
Ensembl chr  X:111,253,717...111,332,534
JBrowse link
G ARX aristaless related homeobox ISO OMIM NCBI chr  X:17,598,858...17,612,544 JBrowse link
G BRICD5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr16:1,067,543...1,069,836
Ensembl chr16:2,310,660...2,312,995
JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr19:12,769,586...13,189,022
Ensembl chr19:13,507,102...13,804,729
JBrowse link
G CASKIN1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr16:1,035,826...1,055,005 JBrowse link
G CCNF cyclin F ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 More... NCBI chr16:1,285,379...1,314,972
Ensembl chr16:2,529,371...2,556,438
JBrowse link
G CSNK1E casein kinase 1 epsilon ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar NCBI chr22:19,202,599...19,229,344 JBrowse link
G DNASE1L2 deoxyribonuclease 1 like 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr16:1,093,669...1,096,123
Ensembl chr16:2,336,768...2,338,391
JBrowse link
G E4F1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr16:1,080,205...1,092,996
Ensembl chr16:2,323,461...2,335,695
JBrowse link
G ECI1 enoyl-CoA delta isomerase 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr16:1,097,165...1,108,726
Ensembl chr16:2,339,864...2,351,385
JBrowse link
G GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr15:3,129,481...3,357,495
Ensembl chr15:23,981,359...24,058,357
JBrowse link
G GNAO1 G protein subunit alpha o1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr16:36,473,852...36,643,789
Ensembl chr16:55,606,920...55,776,619
JBrowse link
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24747641 NCBI chr 5:64,673,392...65,116,259
Ensembl chr 5:69,724,767...70,158,761
JBrowse link
G KCNA2 potassium voltage-gated channel subfamily A member 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:8663992 PMID:8663993 PMID:15694325 PMID:16002579 PMID:21044565 More... NCBI chr 1:113,187,158...113,256,260
Ensembl chr 1:127,090,829...127,092,328
JBrowse link
G LOC100972297 polycystin-1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr16:604,927...1,697,831 JBrowse link
G LOC100977490 ras-related protein Rab-26 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr16:1,006,847...1,012,263 JBrowse link
G MAF MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome
ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr16:60,188,494...60,194,871 JBrowse link
G MLST8 MTOR associated protein, LST8 homolog ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr16:1,063,534...1,067,706
Ensembl chr16:2,306,451...2,310,828
JBrowse link
G NAPB NSF attachment protein beta ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar NCBI chr20:23,316,153...23,363,142
Ensembl chr20:23,667,469...23,713,935
JBrowse link
G NRXN2 neurexin 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar NCBI chr11:59,959,917...60,078,093
Ensembl chr11:63,303,659...63,409,687
JBrowse link
G NTN3 netrin 3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr16:1,323,148...1,330,713
Ensembl chr16:2,571,072...2,573,173
JBrowse link
G PGP phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr16:1,070,291...1,073,123 JBrowse link
G PLCB1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr20:8,106,665...8,858,572
Ensembl chr20:7,887,960...8,636,019
JBrowse link
G POLA1 DNA polymerase alpha 1, catalytic subunit ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr  X:17,290,805...17,592,163
Ensembl chr  X:24,657,878...24,960,231
JBrowse link
G RNPS1 RNA binding protein with serine rich domain 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr16:1,110,249...1,124,975 JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:16458823 PMID:20522430 PMID:22151702 PMID:23195492 PMID:23808377 More... NCBI chr2B:53,258,614...53,348,131
Ensembl chr2B:170,736,651...170,822,014
JBrowse link
G ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr 1:43,006,963...43,232,968
Ensembl chr 1:44,409,904...44,603,658
JBrowse link
G SYNJ1 synaptojanin 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr21:18,990,526...19,088,839
Ensembl chr21:32,368,949...32,466,994
JBrowse link
G SZT2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:42,691,292...42,754,046
Ensembl chr 1:44,068,998...44,129,456
JBrowse link
G TBC1D24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1
ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome
ClinVar PMID:9536098 PMID:10574461 PMID:16855591 PMID:17576681 PMID:18414213 More... NCBI chr16:1,331,630...1,362,320
Ensembl chr16:2,581,835...2,603,912
JBrowse link
G TEDC2 tubulin epsilon and delta complex 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr16:1,316,181...1,321,075
Ensembl chr16:2,559,493...2,564,370
JBrowse link
G TRAF7 TNF receptor associated factor 7 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr16:1,013,831...1,036,486
Ensembl chr16:2,266,194...2,279,031
JBrowse link
G TSC2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569
JBrowse link
G WWOX WW domain containing oxidoreductase ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome
ClinVar Annotator: match by term: OHTAHARA SYNDROME, X-LINKED
ClinVar PMID:9536098 PMID:11572989 PMID:16199547 PMID:17576681 PMID:20480411 More... NCBI chr16:58,689,609...59,800,333
Ensembl chr16:78,125,302...79,231,546
JBrowse link
developmental and epileptic encephalopathy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSRNP3 cysteine and serine rich nuclear protein 3 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 11 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr2B:52,744,717...52,962,741
Ensembl chr2B:170,122,687...170,311,348
JBrowse link
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 11 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr2B:53,014,933...53,066,330
Ensembl chr2B:170,335,216...170,539,231
JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 11 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr2B:53,258,614...53,348,131
Ensembl chr2B:170,736,651...170,822,014
JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 ISO OMIM NCBI chr2B:52,514,918...52,667,225
Ensembl chr2B:169,928,323...170,027,509
JBrowse link
G SCN3A sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 11 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr2B:52,363,020...52,479,818
Ensembl chr2B:169,722,134...169,838,590
JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 11 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr2B:53,468,290...53,643,747
Ensembl chr2B:170,944,974...171,054,013
JBrowse link
G TTC21B tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 11 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr2B:53,140,199...53,220,535
Ensembl chr2B:170,616,444...170,699,471
JBrowse link
developmental and epileptic encephalopathy 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLCB1 phospholipase C beta 1 ISO OMIM NCBI chr20:8,106,665...8,858,572
Ensembl chr20:7,887,960...8,636,019
JBrowse link
G PNKP polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 12
ClinVar PMID:9536098 PMID:10446192 PMID:11112660 PMID:15381417 PMID:16199547 More... NCBI chr19:46,874,216...46,880,954
Ensembl chr19:55,790,048...55,796,762
JBrowse link
developmental and epileptic encephalopathy 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCN8A sodium voltage-gated channel alpha subunit 8 ISO OMIM NCBI chr12:36,950,057...37,172,235
Ensembl chr12:37,730,900...37,876,357
JBrowse link
developmental and epileptic encephalopathy 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA2 ATP binding cassette subfamily A member 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:108,067,633...108,089,742
Ensembl chr 9:137,036,696...137,057,776
JBrowse link
G AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:107,749,195...107,763,033
Ensembl chr 9:136,722,914...136,737,286
JBrowse link
G AJM1 apical junction component 1 homolog ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:107,898,222...107,908,125 JBrowse link
G ANAPC2 anaphase promoting complex subunit 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:108,234,949...108,248,227
Ensembl chr 9:137,204,356...137,217,652
JBrowse link
G ARRDC1 arrestin domain containing 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:108,711,276...108,720,942
Ensembl chr 9:137,664,787...137,668,688
JBrowse link
G C8G complement C8 gamma chain ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:108,003,376...108,005,648
Ensembl chr 9:136,974,556...136,976,152
JBrowse link
G C9H9orf163 chromosome 9 C9orf163 homolog ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:107,561,734...107,562,397 JBrowse link
G CAMSAP1 calmodulin regulated spectrin associated protein 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:106,881,023...106,979,501
Ensembl chr 9:135,866,980...135,944,911
JBrowse link
G CARD9 caspase recruitment domain family member 9 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:107,432,709...107,446,271
Ensembl chr 9:136,416,279...136,424,756
JBrowse link
G CCDC183 coiled-coil domain containing 183 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:107,853,783...107,865,565
Ensembl chr 9:136,824,266...136,835,166
JBrowse link
G CLIC3 chloride intracellular channel 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:108,054,934...108,057,100
Ensembl chr 9:137,023,505...137,025,361
JBrowse link
G CYSRT1 cysteine rich tail 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:108,284,155...108,285,850
Ensembl chr 9:137,252,943...137,254,611
JBrowse link
G DIPK1B divergent protein kinase domain 1B ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:107,786,349...107,798,873
Ensembl chr 9:136,760,243...136,769,833
JBrowse link
G DNLZ DNL-type zinc finger ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:107,432,709...107,436,360 JBrowse link
G DPH7 diphthamide biosynthesis 7 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:108,635,082...108,680,315
Ensembl chr 9:137,597,639...137,627,279
JBrowse link
G DPP7 dipeptidyl peptidase 7 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:108,170,361...108,189,498 JBrowse link
G EDF1 endothelial differentiation related factor 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:107,919,200...107,923,415
Ensembl chr 9:136,889,383...136,891,133
JBrowse link
G EGFL7 EGF like domain multiple 7 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:107,735,192...107,748,729
Ensembl chr 9:136,708,783...136,722,448
JBrowse link
G EHMT1 euchromatic histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:108,724,568...108,951,077
Ensembl chr 9:137,764,950...137,895,564
JBrowse link
G ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:108,108,780...108,114,806
Ensembl chr 9:137,077,207...137,083,031
JBrowse link
G ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:108,503,511...108,511,822
Ensembl chr 9:137,468,154...137,472,092
JBrowse link
G ENTR1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:107,474,676...107,483,625
Ensembl chr 9:136,454,597...136,463,414
JBrowse link
G EXD3 exonuclease 3'-5' domain containing 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:108,366,206...108,490,346
Ensembl chr 9:137,336,229...137,427,312
JBrowse link
G FAM166A family with sequence similarity 166 member A ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:108,303,199...108,310,953
Ensembl chr 9:137,271,636...137,275,827
JBrowse link
G FBXW5 F-box and WD repeat domain containing 5 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:107,998,949...108,003,247
Ensembl chr 9:136,969,957...136,973,945
JBrowse link
G FUT7 fucosyltransferase 7 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:108,090,793...108,093,513
Ensembl chr 9:137,058,831...137,061,607
JBrowse link
G GPSM1 G protein signaling modulator 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:107,400,819...107,432,165
Ensembl chr 9:136,383,929...136,410,561
JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:108,198,350...108,228,887
Ensembl chr 9:137,168,722...137,197,382
JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:107,502,838...107,516,325
Ensembl chr 9:136,483,144...136,492,731
JBrowse link
G KCNT1 potassium sodium-activated channel subfamily T member 1 ISO OMIM NCBI chr 9:106,773,184...106,867,490
Ensembl chr 9:135,763,956...135,852,482
JBrowse link
G LCN12 lipocalin 12 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:108,008,222...108,014,028
Ensembl chr 9:136,981,665...136,984,643
JBrowse link
G LCN15 lipocalin 15 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:107,818,230...107,828,652
Ensembl chr 9:136,788,329...136,794,304
JBrowse link
G LCN8 lipocalin 8 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:107,811,520...107,817,297
Ensembl chr 9:136,783,245...136,787,178
JBrowse link
G LCNL1 lipocalin like 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:108,043,835...108,045,585
Ensembl chr 9:137,012,430...137,013,864
JBrowse link
G LHX3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:107,271,131...107,280,001
Ensembl chr 9:136,252,880...136,260,366
JBrowse link
G LINC02908 long intergenic non-protein coding RNA 2908 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:108,093,280...108,097,369 JBrowse link
G LOC100991383 RING finger protein 208 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:108,279,801...108,281,695
Ensembl chr 9:137,248,765...137,249,550
JBrowse link
G LRRC26 leucine rich repeat containing 26 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:108,228,889...108,230,178
Ensembl chr 9:137,198,298...137,199,602
JBrowse link
G MAMDC4 MAM domain containing 4 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:107,908,156...107,917,883
Ensembl chr 9:136,878,324...136,888,065
JBrowse link
G MAN1B1 mannosidase alpha class 1B member 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:108,148,020...108,168,931
Ensembl chr 9:137,118,361...137,139,066
JBrowse link
G MRPL41 mitochondrial ribosomal protein L41 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:108,631,543...108,632,733 JBrowse link
G NACC2 NACC family member 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:107,079,113...107,168,332
Ensembl chr 9:136,066,229...136,105,176
JBrowse link
G NDOR1 NADPH dependent diflavin oxidoreductase 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:108,265,305...108,278,923
Ensembl chr 9:137,233,940...137,247,716
JBrowse link
G NELFB negative elongation factor complex member B ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:108,314,535...108,333,050
Ensembl chr 9:137,278,964...137,301,751
JBrowse link
G NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740
JBrowse link
G NOXA1 NADPH oxidase activator 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:108,490,455...108,503,555
Ensembl chr 9:137,455,874...137,468,196
JBrowse link
G NPDC1 neural proliferation, differentiation and control 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:108,100,164...108,107,324
Ensembl chr 9:137,068,846...137,072,257
JBrowse link
G NRARP NOTCH regulated ankyrin repeat protein ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:108,358,959...108,361,586 JBrowse link
G NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:108,518,698...108,531,316
Ensembl chr 9:137,482,420...137,495,990
JBrowse link
G PAXX PAXX non-homologous end joining factor ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:108,052,793...108,055,298
Ensembl chr 9:137,021,230...137,022,805
JBrowse link
G PHPT1 phosphohistidine phosphatase 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:107,906,160...107,908,130 JBrowse link
G PMPCA peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:107,483,608...107,499,176
Ensembl chr 9:136,464,070...136,477,569
JBrowse link
G PNPLA7 patatin like phospholipase domain containing 7 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:108,531,917...108,631,119
Ensembl chr 9:137,496,924...137,593,154
JBrowse link
G PTGDS prostaglandin D2 synthase ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:108,037,994...108,042,136 JBrowse link
G QSOX2 quiescin sulfhydryl oxidase 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:107,281,207...107,320,420
Ensembl chr 9:136,261,578...136,282,774
JBrowse link
G RABL6 RAB, member RAS oncogene family like 6 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:107,865,764...107,898,073
Ensembl chr 9:136,849,527...136,868,545
JBrowse link
G RNF224 ring finger protein 224 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:108,287,236...108,289,186
Ensembl chr 9:137,255,866...137,257,947
JBrowse link
G SAPCD2 suppressor APC domain containing 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:108,122,658...108,132,397 JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Malignant migrating partial seizures of infancy ClinVar PMID:25741868 NCBI chr2B:52,514,918...52,667,225
Ensembl chr2B:169,928,323...170,027,509
JBrowse link
G SEC16A SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:107,516,556...107,560,930
Ensembl chr 9:136,493,957...136,533,655
JBrowse link
G SLC34A3 solute carrier family 34 member 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:108,290,905...108,296,186
Ensembl chr 9:137,259,243...137,264,947
JBrowse link
G SNAPC4 small nuclear RNA activating complex polypeptide 4 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:107,448,180...107,473,022
Ensembl chr 9:136,428,732...136,450,653
JBrowse link
G SSNA1 SS nuclear autoantigen 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:108,248,263...108,250,002
Ensembl chr 9:137,217,653...137,219,406
JBrowse link
G STPG3 sperm-tail PG-rich repeat containing 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:108,310,511...108,314,233
Ensembl chr 9:137,278,844...137,282,670
JBrowse link
G TMEM141 transmembrane protein 141 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:107,849,421...107,851,438 JBrowse link
G TMEM203 transmembrane protein 203 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:108,252,170...108,265,276
Ensembl chr 9:137,233,273...137,233,683
JBrowse link
G TMEM210 transmembrane protein 210 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:108,231,003...108,232,819
Ensembl chr 9:137,200,480...137,201,612
JBrowse link
G TMEM250 transmembrane protein 250 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:107,187,362...107,191,642
Ensembl chr 9:136,170,880...136,171,292
JBrowse link
G TOR4A torsin family 4 member A ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:108,337,814...108,342,723
Ensembl chr 9:137,307,626...137,310,283
JBrowse link
G TPRN taperin ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:108,251,235...108,261,541 JBrowse link
G TRAF2 TNF receptor associated factor 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:107,938,935...107,984,797
Ensembl chr 9:136,917,358...136,955,331
JBrowse link
G TUBB4B tubulin beta 4B class IVb ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:108,300,868...108,303,321
Ensembl chr 9:137,268,942...137,271,758
JBrowse link
G UAP1L1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:108,138,569...108,145,644
Ensembl chr 9:137,108,764...137,115,793
JBrowse link
G UBAC1 UBA domain containing 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:107,004,643...107,033,286
Ensembl chr 9:135,988,020...136,016,046
JBrowse link
G ZMYND19 zinc finger MYND-type containing 19 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:108,682,634...108,696,671
Ensembl chr 9:137,630,101...137,642,871
JBrowse link
developmental and epileptic encephalopathy 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 ISO OMIM NCBI chr 1:43,006,963...43,232,968
Ensembl chr 1:44,409,904...44,603,658
JBrowse link
developmental and epileptic encephalopathy 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TBC1D24 TBC1 domain family member 24 ISO OMIM NCBI chr16:1,331,630...1,362,320
Ensembl chr16:2,581,835...2,603,912
JBrowse link
developmental and epileptic encephalopathy 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNAO1 G protein subunit alpha o1 ISO OMIM NCBI chr16:36,473,852...36,643,789
Ensembl chr16:55,606,920...55,776,619
JBrowse link
developmental and epileptic encephalopathy 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SZT2 SZT2 subunit of KICSTOR complex ISO OMIM NCBI chr 1:42,691,292...42,754,046
Ensembl chr 1:44,068,998...44,129,456
JBrowse link
developmental and epileptic encephalopathy 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 ISO OMIM NCBI chr 5:157,234,725...157,287,475
Ensembl chr 5:163,928,392...163,981,117
JBrowse link
developmental and epileptic encephalopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRG2 adhesion G protein-coupled receptor G2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:11,610,278...11,747,059
Ensembl chr  X:18,973,638...19,054,159
JBrowse link
G BCLAF3 BCLAF1 and THRAP3 family member 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:12,537,084...12,609,183
Ensembl chr  X:19,899,762...19,949,483
JBrowse link
G BEND2 BEN domain containing 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 More... NCBI chr  X:10,786,031...10,844,265
Ensembl chr  X:18,151,097...18,208,838
JBrowse link
G CDKL5 cyclin dependent kinase like 5 severity ISO DNA:mutations:cds: OMIM
RGD
PMID:22678952 RGD:12791015 NCBI chr  X:11,047,357...11,261,172
Ensembl chr  X:18,492,329...18,638,735
JBrowse link
G EIF1AX eukaryotic translation initiation factor 1A X-linked ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:12,743,907...12,764,313
Ensembl chr  X:20,103,872...20,123,464
JBrowse link
G MAP3K15 mitogen-activated protein kinase kinase kinase 15 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:11,984,867...12,137,090
Ensembl chr  X:19,346,814...19,518,249
JBrowse link
G MAP7D2 MAP7 domain containing 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:12,624,994...12,736,318
Ensembl chr  X:19,989,048...20,096,192
JBrowse link
G NHS NHS actin remodeling regulator ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 More... NCBI chr  X:9,988,584...10,359,110
Ensembl chr  X:17,358,416...17,728,178
JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:11,967,944...11,985,837
Ensembl chr  X:19,330,508...19,348,443
JBrowse link
G PHKA2 phosphorylase kinase regulatory subunit alpha 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:11,513,747...11,605,382
Ensembl chr  X:18,877,476...18,968,730
JBrowse link
G PPEF1 protein phosphatase with EF-hand domain 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:11,311,905...11,448,676
Ensembl chr  X:18,675,714...18,812,412
JBrowse link
G RAI2 retinoic acid induced 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 More... NCBI chr  X:10,423,258...10,484,740 JBrowse link
G RPS6KA3 ribosomal protein S6 kinase A3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:12,772,368...12,893,062
Ensembl chr  X:20,133,898...20,251,244
JBrowse link
G RS1 retinoschisin 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2
ClinVar Annotator: match by term: INFANTILE SPASM SYNDROME, X-LINKED 2
ClinVar PMID:9536098 PMID:15499549 PMID:16813600 PMID:17546640 PMID:17576681 More... NCBI chr  X:11,259,222...11,282,289
Ensembl chr  X:18,624,687...18,657,315
JBrowse link
G SCML1 Scm polycomb group protein like 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 More... NCBI chr  X:10,360,555...10,378,123
Ensembl chr  X:17,736,355...17,745,591
JBrowse link
G SCML2 Scm polycomb group protein like 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 More... NCBI chr  X:10,862,608...10,977,851
Ensembl chr  X:18,226,256...18,344,155
JBrowse link
G SH3KBP1 SH3 domain containing kinase binding protein 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:12,154,789...12,511,949
Ensembl chr  X:19,517,952...19,822,931
JBrowse link
developmental and epileptic encephalopathy 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2ML1 alpha-2-macroglobulin like 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:8,909,111...8,961,857
Ensembl chr12:9,122,447...9,192,371
JBrowse link
G ACSM4 acyl-CoA synthetase medium chain family member 4 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:7,448,372...7,474,634
Ensembl chr12:7,613,474...7,637,536
JBrowse link
G AICDA activation induced cytidine deaminase ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:8,688,392...8,699,008
Ensembl chr12:8,904,273...8,913,917
JBrowse link
G APOBEC1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:7,777,734...7,793,960
Ensembl chr12:7,939,262...7,944,203
JBrowse link
G ATN1 atrophin 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:7,057,430...7,071,767
Ensembl chr12:6,978,576...6,990,580
JBrowse link
G C12H12orf57 chromosome 12 C12orf57 homolog ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:7,073,251...7,075,408
Ensembl chr12:6,978,576...6,990,580
JBrowse link
G C1R complement C1r ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:7,211,162...7,222,673
Ensembl chr12:7,126,723...7,137,895
JBrowse link
G C1RL complement C1r subcomponent like ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:7,224,675...7,239,524
Ensembl chr12:7,139,094...7,155,196
JBrowse link
G C1S complement C1s ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:7,191,679...7,202,036
Ensembl chr12:7,106,157...7,117,614
JBrowse link
G C3AR1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:8,178,064...8,186,206
Ensembl chr12:8,220,933...8,222,381
JBrowse link
G CD163 CD163 molecule ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:7,616,714...7,649,768
Ensembl chr12:7,775,343...7,810,023
JBrowse link
G CD163L1 CD163 molecule like 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:7,497,261...7,590,057
Ensembl chr12:7,656,113...7,749,646
JBrowse link
G CDCA3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:6,980,656...6,983,796
Ensembl chr12:6,890,095...6,895,364
JBrowse link
G CLEC4A C-type lectin domain family 4 member A ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:8,242,240...8,257,860
Ensembl chr12:8,285,174...8,300,029
JBrowse link
G CLEC4C C-type lectin domain family 4 member C ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:7,852,796...7,873,559
Ensembl chr12:8,012,508...8,030,370
JBrowse link
G CLEC4D C-type lectin domain family 4 member D ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:8,599,654...8,608,494
Ensembl chr12:8,814,680...8,823,484
JBrowse link
G CLEC4E C-type lectin domain family 4 member E ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:8,620,618...8,627,610 JBrowse link
G CLEC6A C-type lectin domain containing 6A ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:8,537,766...8,560,736
Ensembl chr12:8,752,778...8,775,738
JBrowse link
G CLSTN3 calsyntenin 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:7,260,361...7,288,903
Ensembl chr12:7,175,951...7,204,526
JBrowse link
G DPPA3 developmental pluripotency associated 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:7,834,298...7,841,064 JBrowse link
G EMG1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:7,102,619...7,108,594
Ensembl chr12:7,018,291...7,023,807
JBrowse link
G ENO2 enolase 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:7,043,807...7,053,178
Ensembl chr12:6,958,960...6,968,342
JBrowse link
G FAM90A1 family with sequence similarity 90 member A1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:8,343,013...8,346,624 JBrowse link
G FOXJ2 forkhead box J2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:8,152,037...8,175,291
Ensembl chr12:8,194,519...8,217,778
JBrowse link
G GDF3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:7,813,288...7,819,418
Ensembl chr12:7,972,907...7,979,815
JBrowse link
G GNB3 G protein subunit beta 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:6,971,854...6,979,214
Ensembl chr12:6,883,280...6,890,692
JBrowse link
G LPCAT3 lysophosphatidylcholine acyltransferase 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:7,107,925...7,149,982
Ensembl chr12:7,024,015...7,065,945
JBrowse link
G LRRC23 leucine rich repeat containing 23 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:7,033,989...7,043,704
Ensembl chr12:6,948,809...6,958,880
JBrowse link
G MFAP5 microfibril associated protein 5 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:8,731,893...8,746,850
Ensembl chr12:8,944,872...8,961,876
JBrowse link
G NANOG Nanog homeobox ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:7,913,037...7,919,715 JBrowse link
G NANOGNB NANOG neighbor homeobox ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:7,888,876...7,897,769 JBrowse link
G NECAP1 NECAP endocytosis associated 1 ISO OMIM NCBI chr12:8,201,908...8,217,043
Ensembl chr12:8,243,785...8,282,647
JBrowse link
G P3H3 prolyl 3-hydroxylase 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:6,960,193...6,971,691
Ensembl chr12:6,872,035...6,883,187
JBrowse link
G PEX5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:7,318,637...7,340,428
Ensembl chr12:7,235,049...7,255,815
JBrowse link
G PHB2 prohibitin 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:7,097,073...7,102,474
Ensembl chr12:7,013,195...7,018,053
JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:7,075,879...7,093,041
Ensembl chr12:6,991,099...7,008,830
JBrowse link
G RBP5 retinol binding protein 5 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:7,253,922...7,261,145
Ensembl chr12:7,169,592...7,175,800
JBrowse link
G RIMKLB ribosomal modification protein rimK like family member B ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:8,752,509...8,869,226
Ensembl chr12:8,999,423...9,077,179
JBrowse link
G SLC2A14 solute carrier family 2 member 14 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:7,936,348...8,014,318
Ensembl chr12:8,094,327...8,113,460
JBrowse link
G TPI1 triosephosphate isomerase 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:6,999,275...7,002,678
Ensembl chr12:6,910,813...6,913,612
JBrowse link
G USP5 ubiquitin specific peptidase 5 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:6,983,941...6,998,469
Ensembl chr12:6,895,416...6,909,936
JBrowse link
developmental and epileptic encephalopathy 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANGPTL3 angiopoietin like 3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 23 ClinVar PMID:28492532 NCBI chr 1:61,855,870...61,863,476
Ensembl chr 1:63,670,516...63,679,194
JBrowse link
G DOCK7 dedicator of cytokinesis 7 ISO OMIM NCBI chr 1:61,713,217...61,946,371
Ensembl chr 1:63,529,227...63,740,970
JBrowse link
developmental and epileptic encephalopathy 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO OMIM NCBI chr 5:64,673,392...65,116,259
Ensembl chr 5:69,724,767...70,158,761
JBrowse link
developmental and epileptic encephalopathy 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACADVL acyl-CoA dehydrogenase very long chain ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr17:7,249,717...7,255,165
Ensembl chr17:7,234,283...7,242,417
JBrowse link
G AIPL1 aryl hydrocarbon receptor interacting protein like 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr17:6,463,812...6,473,636
Ensembl chr17:6,450,420...6,461,868
JBrowse link
G ALOX12 arachidonate 12-lipoxygenase, 12S type ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr17:7,026,839...7,041,598
Ensembl chr17:7,014,591...7,029,602
JBrowse link
G ASGR1 asialoglycoprotein receptor 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr17:7,203,387...7,209,602
Ensembl chr17:7,191,076...7,196,992
JBrowse link
G ASGR2 asialoglycoprotein receptor 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr17:7,131,490...7,145,110
Ensembl chr17:7,119,432...7,133,520
JBrowse link
G BCL6B BCL6B transcription repressor ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr17:7,053,841...7,061,523
Ensembl chr17:7,042,775...7,046,741
JBrowse link
G C17H17orf49 chromosome 17 C17orf49 homolog ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr17:7,045,486...7,048,370
Ensembl chr17:7,033,360...7,036,634
JBrowse link
G CLEC10A C-type lectin domain containing 10A ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr17:7,104,887...7,111,883
Ensembl chr17:7,092,968...7,097,462
JBrowse link
G DLG4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr17:7,219,911...7,247,509
Ensembl chr17:7,207,483...7,235,985
JBrowse link
G FBXO39 F-box protein 39 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr17:6,806,312...6,818,183
Ensembl chr17:6,795,514...6,806,969
JBrowse link
G KIAA0753 KIAA0753 ortholog ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr17:6,615,903...6,678,233
Ensembl chr17:6,603,983...6,662,083
JBrowse link
G LOC100995017 XIAP-associated factor 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr17:6,785,040...6,806,177
Ensembl chr17:6,774,951...6,794,947
JBrowse link
G MED31 mediator complex subunit 31 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr17:6,681,675...6,689,115
Ensembl chr17:6,669,582...6,676,882
JBrowse link
G PIMREG PICALM interacting mitotic regulator ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr17:6,482,837...6,489,480
Ensembl chr17:6,471,520...6,478,156
JBrowse link
G PITPNM3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr17:6,492,567...6,595,645
Ensembl chr17:6,481,590...6,584,379
JBrowse link
G RNASEK ribonuclease K ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr17:7,043,269...7,045,379
Ensembl chr17:7,031,283...7,033,393
JBrowse link
G SLC13A5 solute carrier family 13 member 5 ISO OMIM NCBI chr17:6,721,620...6,751,840
Ensembl chr17:6,709,647...6,738,683
JBrowse link
G SLC16A11 solute carrier family 16 member 11 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr17:7,072,436...7,075,242 JBrowse link
G SLC16A13 solute carrier family 16 member 13 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr17:7,066,765...7,071,082
Ensembl chr17:7,055,038...7,059,170
JBrowse link
G TEKT1 tektin 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr17:6,830,517...6,862,596
Ensembl chr17:6,819,230...6,851,014
JBrowse link
G TXNDC17 thioredoxin domain containing 17 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr17:6,678,375...6,680,902
Ensembl chr17:6,666,067...6,668,475
JBrowse link
developmental and epileptic encephalopathy 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARFGEF2 ADP ribosylation factor guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 26 ClinVar PMID:28492532 NCBI chr20:45,262,330...45,376,237
Ensembl chr20:46,327,753...46,442,518
JBrowse link
G CSE1L chromosome segregation 1 like ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 26 ClinVar PMID:28492532 NCBI chr20:45,386,124...45,436,283
Ensembl chr20:46,452,485...46,502,207
JBrowse link
G DDX27 DEAD-box helicase 27 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 26 ClinVar PMID:28492532 NCBI chr20:45,557,430...45,582,569
Ensembl chr20:46,621,585...46,647,238
JBrowse link
G KCNB1 potassium voltage-gated channel subfamily B member 1 susceptibility
exacerbates
ISO DNA:missense mutations, nonsense mutations, frameshift mutation:CDS:multiple (human)
DNA:missense mutation:CDS:p.G379R (mouse)
OMIM
RGD
PMID:28806457 PMID:33132203 RGD:126908008 RGD:126908009 NCBI chr20:45,636,371...45,821,536
Ensembl chr20:46,776,274...46,885,521
JBrowse link
G STAU1 staufen double-stranded RNA binding protein 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 26 ClinVar PMID:28492532 NCBI chr20:45,452,639...45,526,512
Ensembl chr20:46,517,772...46,578,024
JBrowse link
G ZNFX1 zinc finger NFX1-type containing 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 26 ClinVar PMID:28492532 NCBI chr20:45,585,137...45,616,769
Ensembl chr20:46,642,081...46,681,289
JBrowse link
developmental and epileptic encephalopathy 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B ISO OMIM NCBI chr12:13,543,104...13,987,437
Ensembl chr12:13,969,387...14,388,799
JBrowse link
G MBD5 methyl-CpG binding domain protein 5 ISO ClinVar Annotator: match by term: developmental delay with intractable seizures ClinVar PMID:26467025 PMID:28492532 NCBI chr2B:11,347,218...11,842,644
Ensembl chr2B:152,754,368...152,874,042
JBrowse link
developmental and epileptic encephalopathy 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAF MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 28 ClinVar PMID:25741868 NCBI chr16:60,188,494...60,194,871 JBrowse link
G NCF2 neutrophil cytosolic factor 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 28 ClinVar PMID:16937026 PMID:23821607 PMID:25741868 PMID:28492532 NCBI chr 1:159,085,923...159,121,259
Ensembl chr 1:163,243,636...163,278,420
JBrowse link
G WWOX WW domain containing oxidoreductase ISO OMIM NCBI chr16:58,689,609...59,800,333
Ensembl chr16:78,125,302...79,231,546
JBrowse link
developmental and epileptic encephalopathy 29 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS1 alanyl-tRNA synthetase 1 ISO OMIM NCBI chr16:54,727,601...54,763,458
Ensembl chr16:70,086,735...70,121,902
JBrowse link
developmental and epileptic encephalopathy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC25A22 solute carrier family 25 member 22 ISO OMIM NCBI chr11:807,886...815,770
Ensembl chr11:851,998...858,121
JBrowse link
developmental and epileptic encephalopathy 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGPAT3 1-acylglycerol-3-phosphate O-acyltransferase 3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr21:30,120,899...30,243,438
Ensembl chr21:43,479,513...43,540,453
JBrowse link
G CBS cystathionine beta-synthase ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr21:29,361,519...29,385,610 JBrowse link
G CSTB cystatin B ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr21:30,030,359...30,032,899 JBrowse link
G GATD3 glutamine amidotransferase class 1 domain containing 3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr21:30,391,586...30,403,698 JBrowse link
G HSF2BP heat shock transcription factor 2 binding protein ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr21:29,787,768...29,916,089
Ensembl chr21:43,088,012...43,214,760
JBrowse link
G LOC100973922 splicing factor U2AF 35 kDa subunit-like protein ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr21:29,399,601...29,414,156 JBrowse link
G NDUFV3 NADH:ubiquinone oxidoreductase subunit V3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr21:29,205,714...29,222,057
Ensembl chr21:42,516,295...42,531,750
JBrowse link
G PDE9A phosphodiesterase 9A ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr21:28,963,181...29,088,395
Ensembl chr21:42,275,697...42,398,681
JBrowse link
G PKNOX1 PBX/knotted 1 homeobox 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr21:29,282,883...29,341,998
Ensembl chr21:42,622,065...42,647,329
JBrowse link
G PWP2 PWP2 small subunit processome component ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr21:30,364,398...30,389,202 JBrowse link
G RRP1 ribosomal RNA processing 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr21:30,045,143...30,061,243
Ensembl chr21:43,343,786...43,358,401
JBrowse link
G RRP1B ribosomal RNA processing 1B ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr21:29,916,109...29,952,749
Ensembl chr21:43,217,516...43,251,192
JBrowse link
G RSPH1 radial spoke head component 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr21:28,779,994...28,804,130
Ensembl chr21:42,098,212...42,121,610
JBrowse link
G SIK1 salt inducible kinase 1 ISO OMIM NCBI chr21:29,675,040...29,689,408 JBrowse link
G SLC37A1 solute carrier family 37 member 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr21:28,821,106...28,891,158
Ensembl chr21:42,138,959...42,208,322
JBrowse link
G TRAPPC10 trafficking protein particle complex subunit 10 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr21:30,269,085...30,363,396
Ensembl chr21:43,581,617...43,656,740
JBrowse link
G WDR4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr21:29,161,429...29,191,672
Ensembl chr21:42,472,371...42,502,336
JBrowse link
developmental and epileptic encephalopathy 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AK1 adenylate kinase 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:98,987,348...98,997,252
Ensembl chr 9:127,657,338...127,678,245
JBrowse link
G ANGPTL2 angiopoietin like 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:98,206,703...98,242,169
Ensembl chr 9:126,861,212...126,896,677
JBrowse link
G BBLN bublin coiled coil protein ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:99,281,258...99,284,930
Ensembl chr 9:127,951,037...127,954,779
JBrowse link
G CDK9 cyclin dependent kinase 9 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:98,905,468...98,909,923
Ensembl chr 9:127,580,862...127,584,935
JBrowse link
G CFAP157 cilia and flagella associated protein 157 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:98,825,719...98,834,780
Ensembl chr 9:127,497,791...127,506,177
JBrowse link
G CIZ1 CDKN1A interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:8335685 PMID:10608808 PMID:11031245 PMID:11553700 PMID:18469812 More... NCBI chr 9:99,282,821...99,325,404
Ensembl chr 9:127,956,915...127,982,449
JBrowse link
G DNM1 dynamin 1 ISO OMIM NCBI chr 9:99,324,385...99,376,262
Ensembl chr 9:128,004,508...128,044,690
JBrowse link
G DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:99,055,271...99,058,058
Ensembl chr 9:127,725,780...127,729,589
JBrowse link
G ENG endoglin ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641
JBrowse link
G FAM102A family with sequence similarity 102 member A ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:99,061,030...99,101,144
Ensembl chr 9:127,731,243...127,771,098
JBrowse link
G FPGS folylpolyglutamate synthase ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:98,921,986...98,933,542
Ensembl chr 9:127,593,592...127,604,200
JBrowse link
G GARNL3 GTPase activating Rap/RanGAP domain like 3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:98,343,954...98,514,381
Ensembl chr 9:127,038,457...127,168,056
JBrowse link
G LCN2 lipocalin 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:99,259,278...99,274,494
Ensembl chr 9:127,940,799...127,944,798
JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:97,730,850...97,820,554
Ensembl chr 9:126,240,722...126,322,420
JBrowse link
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:98,571,796...98,623,581
Ensembl chr 9:127,245,508...127,297,645
JBrowse link
G NAIF1 nuclear apoptosis inducing factor 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:99,181,980...99,188,002
Ensembl chr 9:127,853,002...127,859,049
JBrowse link
G NIBAN2 niban apoptosis regulator 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:98,625,411...98,689,077
Ensembl chr 9:127,299,475...127,371,459
JBrowse link
G PIP5KL1 phosphatidylinositol-4-phosphate 5-kinase like 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:99,041,687...99,051,031
Ensembl chr 9:127,712,944...127,722,332
JBrowse link
G PTGES2 prostaglandin E synthase 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:99,241,257...99,249,022
Ensembl chr 9:127,912,363...127,918,036
JBrowse link
G PTRH1 peptidyl-tRNA hydrolase 1 homolog ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:98,813,010...98,835,732
Ensembl chr 9:127,484,509...127,507,753
JBrowse link
G RALGPS1 Ral GEF with PH domain and SH3 binding motif 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:98,033,100...98,342,582
Ensembl chr 9:126,689,557...126,992,628
JBrowse link
G RPL12 ribosomal protein L12 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:98,567,972...98,571,748
Ensembl chr 9:127,241,688...127,245,450
JBrowse link
G SH2D3C SH2 domain containing 3C ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:98,858,018...98,899,661
Ensembl chr 9:127,530,733...127,571,016
JBrowse link
G SLC25A25 solute carrier family 25 member 25 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:99,188,906...99,229,771
Ensembl chr 9:127,859,948...127,900,922
JBrowse link
G SLC2A8 solute carrier family 2 member 8 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:98,517,880...98,534,333
Ensembl chr 9:127,171,671...127,182,460
JBrowse link
G ST6GALNAC4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:99,027,846...99,037,025
Ensembl chr 9:127,699,013...127,708,515
JBrowse link
G ST6GALNAC6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:99,005,336...99,025,296
Ensembl chr 9:127,677,841...127,697,880
JBrowse link
G STXBP1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:98,731,527...98,811,608
Ensembl chr 9:127,434,080...127,486,152
JBrowse link
G TOR2A torsin family 2 member A ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:98,851,255...98,855,086
Ensembl chr 9:127,523,547...127,527,403
JBrowse link
G TTC16 tetratricopeptide repeat domain 16 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:98,834,850...98,851,253
Ensembl chr 9:127,506,866...127,523,545
JBrowse link
G ZBTB34 zinc finger and BTB domain containing 34 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:97,979,000...98,004,219
Ensembl chr 9:126,652,091...126,653,605
JBrowse link
G ZBTB43 zinc finger and BTB domain containing 43 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:97,923,985...97,956,579
Ensembl chr 9:126,458,685...126,460,088
JBrowse link
G ZNF79 zinc finger protein 79 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:98,548,125...98,565,632 JBrowse link
developmental and epileptic encephalopathy 32 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNA2 potassium voltage-gated channel subfamily A member 2 ISO OMIM NCBI chr 1:113,187,158...113,256,260
Ensembl chr 1:127,090,829...127,092,328
JBrowse link
developmental and epileptic encephalopathy 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD16B abhydrolase domain containing 16B ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 Ensembl chr20:61,783,486...61,784,895 JBrowse link
G ADRM1 ADRM1 26S proteasome ubiquitin receptor ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:58,667,601...58,673,566
Ensembl chr20:59,985,358...59,991,668
JBrowse link
G ARFGAP1 ADP ribosylation factor GTPase activating protein 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:59,656,731...59,674,802
Ensembl chr20:61,197,583...61,214,635
JBrowse link
G ARFRP1 ADP ribosylation factor related protein 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 Ensembl chr20:61,622,386...61,630,949 JBrowse link
G BHLHE23 basic helix-loop-helix family member e23 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:59,385,608...59,392,078 JBrowse link
G BIRC7 baculoviral IAP repeat containing 7 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:59,618,530...59,623,612
Ensembl chr20:61,157,302...61,161,932
JBrowse link
G CHRNA4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33
ClinVar PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 More... NCBI chr20:59,730,759...59,748,678
Ensembl chr20:61,270,631...61,283,005
JBrowse link
G COL20A1 collagen type XX alpha 1 chain ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:59,678,028...59,716,822
Ensembl chr20:61,219,950...61,254,432
JBrowse link
G COL9A3 collagen type IX alpha 3 chain ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:59,203,959...59,229,221
Ensembl chr20:60,499,089...60,521,871
JBrowse link
G DIDO1 death inducer-obliterator 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:59,264,759...59,325,092
Ensembl chr20:60,556,923...60,617,265
JBrowse link
G DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 Ensembl chr20:61,848,236...61,856,265 JBrowse link
G EEF1A2 eukaryotic translation elongation factor 1 alpha 2 ISO OMIM Ensembl chr20:61,412,122...61,421,735 JBrowse link
G FNDC11 fibronectin type III domain containing 11 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 Ensembl chr20:61,481,269...61,482,225 JBrowse link
G GID8 GID complex subunit 8 homolog ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:59,325,193...59,335,588
Ensembl chr20:60,617,762...60,627,792
JBrowse link
G GMEB2 glucocorticoid modulatory element binding protein 2 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 Ensembl chr20:61,513,870...61,544,993 JBrowse link
G HELZ2 helicase with zinc finger 2 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 Ensembl chr20:61,483,623...61,498,083 JBrowse link
G LAMA5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:58,673,850...58,677,760
Ensembl chr20:59,992,130...60,055,765
JBrowse link
G LIME1 Lck interacting transmembrane adaptor 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059
G LOC100988530 CDK5 and ABL1 enzyme substrate 2 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:58,775,288...58,791,855 JBrowse link
G MIR1-1HG MIR1-1 host gene ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:58,936,162...58,957,480 JBrowse link
G MRGBP MRG domain binding protein ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:59,183,842...59,187,982 JBrowse link
G NKAIN4 sodium/potassium transporting ATPase interacting 4 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:59,623,891...59,637,916
Ensembl chr20:61,162,915...61,171,567
JBrowse link
G NTSR1 neurotensin receptor 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:59,100,110...59,151,563
Ensembl chr20:60,392,736...60,446,056
JBrowse link
G OGFR opioid growth factor receptor ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:59,191,791...59,201,149
Ensembl chr20:60,488,962...60,495,228
JBrowse link
G PPDPF pancreatic progenitor cell differentiation and proliferation factor ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 ClinVar PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 More... Ensembl chr20:61,446,522...61,447,653 JBrowse link
G PRPF6 pre-mRNA processing factor 6 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 Ensembl chr20:61,899,076...61,948,088 JBrowse link
G PTK6 protein tyrosine kinase 6 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 Ensembl chr20:61,453,386...61,462,951 JBrowse link
G RBBP8NL RBBP8 N-terminal like ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:58,794,817...58,812,530
Ensembl chr20:60,095,450...60,112,408
JBrowse link
G RPS21 ribosomal protein S21 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:58,749,013...58,750,899
Ensembl chr20:60,072,483...60,073,962
JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059
G SAMD10 sterile alpha motif domain containing 10 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 Ensembl chr20:61,892,527...61,897,863 JBrowse link
G SLC17A9 solute carrier family 17 member 9 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:59,339,779...59,356,396
Ensembl chr20:60,631,969...60,647,278
JBrowse link
G SLC2A4RG SLC2A4 regulator ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059
G SLCO4A1 solute carrier organic anion transporter family member 4A1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:59,030,815...59,076,132
Ensembl chr20:60,339,319...60,355,374
JBrowse link
G SRMS src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 Ensembl chr20:61,465,539...61,473,057 JBrowse link
G STMN3 stathmin 3 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059
G TCFL5 transcription factor like 5 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:59,229,243...59,250,033 JBrowse link
G TNFRSF6B TNF receptor superfamily member 6b ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 Ensembl chr20:61,618,321...61,621,611 JBrowse link
G TPD52L2 TPD52 like 2 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 Ensembl chr20:61,787,310...61,808,876 JBrowse link
G UCKL1 uridine-cytidine kinase 1 like 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 Ensembl chr20:61,860,084...61,876,194 JBrowse link
G YTHDF1 YTH N6-methyladenosine RNA binding protein 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:59,575,703...59,596,447
Ensembl chr20:61,116,645...61,135,769
JBrowse link
G ZBTB46 zinc finger and BTB domain containing 46 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 Ensembl chr20:61,667,319...61,713,895 JBrowse link
G ZGPAT zinc finger CCCH-type and G-patch domain containing ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 Ensembl chr20:61,630,271...61,662,967 JBrowse link
G ZNF512B zinc finger protein 512B ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 Ensembl chr20:61,879,322...61,885,634 JBrowse link
developmental and epileptic encephalopathy 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC12A5 solute carrier family 12 member 5 ISO OMIM NCBI chr20:42,359,005...42,397,412
Ensembl chr20:43,445,182...43,483,132
JBrowse link
developmental and epileptic encephalopathy 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ITPA inosine triphosphatase ISO OMIM NCBI chr20:3,295,075...3,309,546
Ensembl chr20:3,056,395...3,070,924
JBrowse link
developmental and epileptic encephalopathy 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit ISO OMIM NCBI chr  X:100,794,882...100,874,083
Ensembl chr  X:111,253,717...111,332,534
JBrowse link
G DCX doublecortin ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 36 ClinVar PMID:28492532 NCBI chr  X:100,411,871...100,529,833
Ensembl chr  X:110,875,032...110,988,582
JBrowse link
developmental and epileptic encephalopathy 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABITRAM actin binding transcription modulator ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 37 ClinVar PMID:28492532 NCBI chr 9:80,085,138...80,101,685
Ensembl chr 9:108,258,285...108,274,538
JBrowse link
G CTNNAL1 catenin alpha like 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 37 ClinVar PMID:28492532 NCBI chr 9:80,093,492...80,164,461 JBrowse link
G ELP1 elongator acetyltransferase complex subunit 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 37 ClinVar PMID:28492532 NCBI chr 9:80,020,131...80,085,076
Ensembl chr 9:108,194,011...108,258,500
JBrowse link
G FRRS1L ferric chelate reductase 1 like ISO OMIM NCBI chr 9:80,283,385...80,320,293 JBrowse link
G TMEM245 transmembrane protein 245 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 37 ClinVar PMID:28492532 NCBI chr 9:80,166,075...80,272,812
Ensembl chr 9:108,344,392...108,445,380
JBrowse link
developmental and epileptic encephalopathy 38 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARV1 ARV1 homolog, fatty acid homeostasis modulator ISO OMIM NCBI chr 1:206,527,777...206,549,606
Ensembl chr 1:211,554,553...211,576,484
JBrowse link
developmental and epileptic encephalopathy 39 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC25A12 solute carrier family 25 member 12 ISO OMIM NCBI chr2B:59,071,123...59,297,327
Ensembl chr2B:176,532,940...176,641,894
JBrowse link
developmental and epileptic encephalopathy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDKL5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 4 ClinVar PMID:25741868 NCBI chr  X:11,047,357...11,261,172
Ensembl chr  X:18,492,329...18,638,735
JBrowse link
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 4 ClinVar PMID:25741868 NCBI chr 9:98,571,796...98,623,581
Ensembl chr 9:127,245,508...127,297,645
JBrowse link
G NIBAN2 niban apoptosis regulator 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 4 ClinVar PMID:25741868 NCBI chr 9:98,625,411...98,689,077
Ensembl chr 9:127,299,475...127,371,459
JBrowse link
G STXBP1 syntaxin binding protein 1 ISO OMIM NCBI chr 9:98,731,527...98,811,608
Ensembl chr 9:127,434,080...127,486,152
JBrowse link
developmental and epileptic encephalopathy 40 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GUF1 GTP binding elongation factor GUF1 ISO OMIM NCBI chr 4:39,007,780...39,042,999
Ensembl chr 4:44,857,648...44,877,751
JBrowse link
developmental and epileptic encephalopathy 41 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC1A2 solute carrier family 1 member 2 ISO OMIM NCBI chr11:35,223,811...35,392,799
Ensembl chr11:35,107,920...35,265,878
JBrowse link
developmental and epileptic encephalopathy 42 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO OMIM NCBI chr19:12,769,586...13,189,022
Ensembl chr19:13,507,102...13,804,729
JBrowse link
developmental and epileptic encephalopathy 43 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 ISO OMIM NCBI chr15:3,129,481...3,357,495
Ensembl chr15:23,981,359...24,058,357
JBrowse link
developmental and epileptic encephalopathy 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAD11 acyl-CoA dehydrogenase family member 11 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 44 ClinVar PMID:25741868 NCBI chr 3:129,631,105...129,732,894
Ensembl chr 3:137,107,834...137,209,550
JBrowse link
G UBA5 ubiquitin like modifier activating enzyme 5 ISO OMIM NCBI chr 3:129,732,314...129,752,579
Ensembl chr 3:137,209,715...137,227,147
JBrowse link
developmental and epileptic encephalopathy 45 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GABRB1 gamma-aminobutyric acid type A receptor subunit beta1 ISO OMIM NCBI chr 4:74,727,321...75,164,407
Ensembl chr 4:85,459,225...85,857,321
JBrowse link
developmental and epileptic encephalopathy 46 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRIN2D glutamate ionotropic receptor NMDA type subunit 2D ISO OMIM NCBI chr19:45,392,258...45,447,004 JBrowse link
developmental and epileptic encephalopathy 47 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF12 fibroblast growth factor 12 ISO OMIM NCBI chr 3:189,430,811...190,017,254
Ensembl chr 3:199,778,545...200,358,744
JBrowse link
developmental and epileptic encephalopathy 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP3B2 adaptor related protein complex 3 subunit beta 2 ISO OMIM NCBI chr15:62,888,359...62,938,758
Ensembl chr15:80,557,967...80,607,475
JBrowse link
developmental and epileptic encephalopathy 49 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DENND5A DENN domain containing 5A ISO OMIM NCBI chr11:9,267,037...9,395,677
Ensembl chr11:9,006,855...9,077,241
JBrowse link
developmental and epileptic encephalopathy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPTAN1 spectrin alpha, non-erythrocytic 1 ISO OMIM NCBI chr 9:99,674,819...99,755,973
Ensembl chr 9:128,341,739...128,422,971
JBrowse link
developmental and epileptic encephalopathy 50 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO OMIM NCBI chr2A:27,218,699...27,245,156
Ensembl chr2A:27,306,527...27,332,804
JBrowse link
developmental and epileptic encephalopathy 51 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MDH2 malate dehydrogenase 2 ISO OMIM NCBI chr 7:67,953,759...67,973,270
Ensembl chr 7:82,497,800...82,516,526
JBrowse link
G STYXL1 serine/threonine/tyrosine interacting like 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 51 ClinVar PMID:25741868 NCBI chr 7:67,973,316...68,024,986
Ensembl chr 7:82,446,562...82,497,769
JBrowse link
developmental and epileptic encephalopathy 52 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCN1B sodium voltage-gated channel beta subunit 1 ISO OMIM NCBI chr19:31,974,499...31,984,488
Ensembl chr19:40,711,281...40,724,052
JBrowse link
developmental and epileptic encephalopathy 53 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SYNJ1 synaptojanin 1 ISO OMIM NCBI chr21:18,990,526...19,088,839
Ensembl chr21:32,368,949...32,466,994
JBrowse link
developmental and epileptic encephalopathy 54 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HNRNPU heterogeneous nuclear ribonucleoprotein U ISO OMIM NCBI chr 1:220,450,218...220,461,412
Ensembl chr 1:225,817,899...225,842,031
JBrowse link
developmental and epileptic encephalopathy 55 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIGP phosphatidylinositol glycan anchor biosynthesis class P ISO OMIM NCBI chr21:23,427,190...23,435,170
Ensembl chr21:36,781,890...36,789,748
JBrowse link
developmental and epileptic encephalopathy 56 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma ISO OMIM NCBI chr 7:67,661,589...67,693,814 JBrowse link
developmental and epileptic encephalopathy 57 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNT2 potassium sodium-activated channel subfamily T member 2 ISO OMIM NCBI chr 1:171,722,130...172,112,927
Ensembl chr 1:176,003,920...176,390,592
JBrowse link
developmental and epileptic encephalopathy 58 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NTRK2 neurotrophic receptor tyrosine kinase 2 ISO OMIM NCBI chr 9:39,663,986...40,208,770
Ensembl chr 9:84,021,837...84,372,678
JBrowse link
developmental and epileptic encephalopathy 59 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GABBR2 gamma-aminobutyric acid type B receptor subunit 2 ISO OMIM NCBI chr 9:69,377,091...69,799,867
Ensembl chr 9:97,500,904...97,790,605
JBrowse link
developmental and epileptic encephalopathy 60 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNPY3 canopy FGF signaling regulator 3 ISO OMIM NCBI chr 6:42,518,140...42,528,239
Ensembl chr 6:43,812,791...43,824,252
JBrowse link
developmental and epileptic encephalopathy 61 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAM22 ADAM metallopeptidase domain 22 ISO OMIM NCBI chr 7:79,930,613...80,197,498
Ensembl chr 7:93,579,306...93,840,484
JBrowse link
developmental and epileptic encephalopathy 62 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCN3A sodium voltage-gated channel alpha subunit 3 ISO OMIM NCBI chr2B:52,363,020...52,479,818
Ensembl chr2B:169,722,134...169,838,590
JBrowse link
developmental and epileptic encephalopathy 63 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPLX1 complexin 1 ISO OMIM NCBI chr 4:889,037...930,046
Ensembl chr 4:819,833...858,953
JBrowse link
Developmental and Epileptic Encephalopathy 64 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RHOBTB2 Rho related BTB domain containing 2 ISO OMIM NCBI chr 8:22,246,075...22,269,443
Ensembl chr 8:19,183,931...19,209,420
JBrowse link
developmental and epileptic encephalopathy 65 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYFIP2 cytoplasmic FMR1 interacting protein 2 ISO OMIM NCBI chr 5:152,667,136...152,796,575
Ensembl chr 5:159,292,029...159,418,077
JBrowse link
developmental and epileptic encephalopathy 66 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRF1 BRF1 RNA polymerase III transcription initiation factor subunit ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 66 ClinVar PMID:25741868 NCBI chr14:85,851,908...85,950,489
Ensembl chr14:105,635,757...105,714,465
JBrowse link
G PACS2 phosphofurin acidic cluster sorting protein 2 ISO OMIM NCBI chr14:85,935,807...86,035,935
Ensembl chr14:105,737,878...105,810,349
JBrowse link
developmental and epileptic encephalopathy 67 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CUX2 cut like homeobox 2 ISO OMIM NCBI chr12:108,600,286...108,975,588
Ensembl chr12:112,175,555...112,311,221
JBrowse link
G SH2B3 SH2B adaptor protein 3 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67 ClinVar PMID:20404132 NCBI chr12:108,977,344...109,024,029 JBrowse link
developmental and epileptic encephalopathy 68 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRAK1 trafficking kinesin protein 1 ISO OMIM NCBI chr 3:41,920,678...42,135,881
Ensembl chr 3:42,262,630...42,399,068
JBrowse link
developmental and epileptic encephalopathy 69 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1E calcium voltage-gated channel subunit alpha1 E ISO OMIM NCBI chr 1:156,796,855...157,296,987
Ensembl chr 1:160,628,089...160,949,270
JBrowse link
developmental and epileptic encephalopathy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NEXMIF neurite extension and migration factor ISO ClinVar Annotator: match by term: Continuous spike and waves during slow-wave sleep syndrome ClinVar PMID:23615299 PMID:25741868 PMID:27358180 PMID:28492532 PMID:29693785 NCBI chr  X:63,985,226...64,177,750
Ensembl chr  X:74,107,799...74,114,635
JBrowse link
developmental and epileptic encephalopathy 70 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PHACTR1 phosphatase and actin regulator 1 ISO OMIM NCBI chr 6:12,560,862...13,136,126
Ensembl chr 6:12,922,871...13,505,609
JBrowse link
G TBC1D7 TBC1 domain family member 7 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 70
ClinVar PMID:23033978 PMID:30256902 NCBI chr 6:13,150,677...13,174,661
Ensembl chr 6:13,491,734...13,546,853
JBrowse link
developmental and epileptic encephalopathy 71 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLS glutaminase ISO OMIM NCBI chr2B:78,182,117...78,267,071
Ensembl chr2B:196,098,910...196,183,323
JBrowse link
developmental and epileptic encephalopathy 72 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NEUROD2 neuronal differentiation 2 ISO OMIM NCBI chr17:17,680,415...17,685,053 JBrowse link
developmental and epileptic encephalopathy 73 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RNF13 ring finger protein 13 ISO OMIM NCBI chr 3:146,828,951...146,983,613
Ensembl chr 3:154,408,822...154,563,298
JBrowse link
developmental and epileptic encephalopathy 74 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 ISO OMIM NCBI chr 5:157,436,113...157,529,586
Ensembl chr 5:164,068,122...164,222,179
JBrowse link
developmental and epileptic encephalopathy 75 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PARS2 prolyl-tRNA synthetase 2, mitochondrial ISO OMIM NCBI chr 1:54,032,594...54,040,274
Ensembl chr 1:55,622,726...55,624,750
JBrowse link
developmental and epileptic encephalopathy 76 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTL6B actin like 6B ISO OMIM NCBI chr 7:92,670,166...92,683,571
Ensembl chr 7:106,070,839...106,083,646
JBrowse link
developmental and epileptic encephalopathy 77 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIGQ phosphatidylinositol glycan anchor biosynthesis class Q ISO OMIM Ensembl chr16:585,901...600,482 JBrowse link
developmental and epileptic encephalopathy 78 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GABRA2 gamma-aminobutyric acid type A receptor subunit alpha2 ISO OMIM NCBI chr 4:75,762,568...75,913,708
Ensembl chr 4:86,491,837...86,638,166
JBrowse link
developmental and epileptic encephalopathy 79 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 ISO OMIM NCBI chr15:2,953,857...3,036,722
Ensembl chr15:24,300,300...24,382,730
JBrowse link
developmental and epileptic encephalopathy 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 ISO OMIM NCBI chr  X:52,779,238...52,946,480
Ensembl chr  X:62,862,115...63,010,512
JBrowse link
developmental and epileptic encephalopathy 80 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCPG1 cell cycle progression 1 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80 ClinVar NCBI chr15:34,324,670...34,382,141
Ensembl chr15:52,647,392...52,701,880
JBrowse link
G PIGB phosphatidylinositol glycan anchor biosynthesis class B ISO OMIM NCBI chr15:34,288,600...34,325,079
Ensembl chr15:52,611,474...52,647,797
JBrowse link
G PIGBOS1 PIGB opposite strand 1 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 80
ClinVar PMID:17343268 PMID:31256876 NCBI chr15:34,286,568...34,325,835
Ensembl chr15:52,610,151...52,610,315
JBrowse link
developmental and epileptic encephalopathy 81 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DMXL2 Dmx like 2 ISO OMIM NCBI chr15:30,386,009...30,557,976
Ensembl chr15:48,719,150...48,890,708
JBrowse link
developmental and epileptic encephalopathy 82 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GOT2 glutamic-oxaloacetic transaminase 2 ISO OMIM NCBI chr16:38,995,770...39,022,750
Ensembl chr16:58,120,781...58,147,378
JBrowse link
developmental and epileptic encephalopathy 83 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UGP2 UDP-glucose pyrophosphorylase 2 ISO OMIM NCBI chr2A:63,906,778...63,959,346
Ensembl chr2A:65,043,871...65,084,175
JBrowse link
developmental and epileptic encephalopathy 84 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UGDH UDP-glucose 6-dehydrogenase ISO OMIM NCBI chr 4:33,827,532...33,856,204
Ensembl chr 4:39,681,300...39,708,215
JBrowse link
Developmental and Epileptic Encephalopathy 85 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMC1A structural maintenance of chromosomes 1A ISO OMIM NCBI chr  X:45,576,100...45,637,314
Ensembl chr  X:53,697,154...53,745,636
JBrowse link
developmental and epileptic encephalopathy 86 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DALRD3 DALR anticodon binding domain containing 3 ISO OMIM NCBI chr 3:48,940,126...48,945,717
Ensembl chr 3:50,021,669...50,024,522
JBrowse link
developmental and epileptic encephalopathy 87 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMD1 adenosylmethionine decarboxylase 1 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 87 ClinVar PMID:25741868 PMID:32330417 NCBI chr 6:108,678,741...108,699,695
Ensembl chr 6:112,761,072...112,782,074
JBrowse link
G CDK19 cyclin dependent kinase 19 ISO OMIM NCBI chr 6:108,413,832...108,619,053
Ensembl chr 6:112,483,434...112,686,987
JBrowse link
developmental and epileptic encephalopathy 88 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MDH1 malate dehydrogenase 1 ISO OMIM NCBI chr2A:63,658,933...63,677,257
Ensembl chr2A:64,785,132...64,803,631
JBrowse link
developmental and epileptic encephalopathy 89 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GAD1 glutamate decarboxylase 1 ISO OMIM NCBI chr2B:58,100,623...58,145,045
Ensembl chr2B:175,558,538...175,602,944
JBrowse link
Developmental and Epileptic Encephalopathy 90 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF13 fibroblast growth factor 13 ISO OMIM NCBI chr  X:127,764,648...128,353,928
Ensembl chr  X:138,023,016...138,103,217
JBrowse link
Dravet syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CGN cingulin ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 1:126,869,973...126,897,024 JBrowse link
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 ISO ClinVar Annotator: match by term: Dravet syndrome ClinVar NCBI chr 5:157,436,113...157,529,586
Ensembl chr 5:164,068,122...164,222,179
JBrowse link
G LYSMD1 LysM domain containing 1 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 1:126,508,575...126,515,165
Ensembl chr 1:130,157,237...130,163,752
JBrowse link
G PI4KB phosphatidylinositol 4-kinase beta ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 1:126,653,794...126,689,690
Ensembl chr 1:130,300,844...130,336,311
JBrowse link
G PIP5K1A phosphatidylinositol-4-phosphate 5-kinase type 1 alpha ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 1:126,547,793...126,598,618
Ensembl chr 1:130,195,974...130,246,198
JBrowse link
G POGZ pogo transposable element derived with ZNF domain ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 1:126,761,777...126,818,262
Ensembl chr 1:130,407,426...130,463,909
JBrowse link
G PSMB4 proteasome 20S subunit beta 4 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 1:126,758,604...126,760,989
Ensembl chr 1:130,404,234...130,406,638
JBrowse link
G PSMD4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 1:126,603,753...126,616,553
Ensembl chr 1:130,251,323...130,264,256
JBrowse link
G RFX5 regulatory factor X5 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 1:126,699,772...126,706,486
Ensembl chr 1:130,345,977...130,352,317
JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 ISO OMIM NCBI chr2B:53,258,614...53,348,131
Ensembl chr2B:170,736,651...170,822,014
JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Dravet syndrome
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar PMID:21698661 PMID:23895530 PMID:25250524 PMID:25741868 PMID:26467025 More... NCBI chr2B:53,468,290...53,643,747
Ensembl chr2B:170,944,974...171,054,013
JBrowse link
G SELENBP1 selenium binding protein 1 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 1:126,723,445...126,731,852
Ensembl chr 1:130,369,065...130,377,419
JBrowse link
G SNX27 sorting nexin 27 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar Annotator: match by term: Dravet syndrome
ClinVar PMID:9536098 PMID:17576681 PMID:25894286 PMID:28492532 NCBI chr 1:126,968,370...127,052,942
Ensembl chr 1:130,612,787...130,695,863
JBrowse link
G TMOD4 tropomodulin 4 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 1:126,519,159...126,525,502
Ensembl chr 1:130,167,570...130,173,663
JBrowse link
G TNFAIP8L2 TNF alpha induced protein 8 like 2 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 1:126,504,849...126,508,578
Ensembl chr 1:130,156,187...130,156,741
JBrowse link
G TUFT1 tuftelin 1 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 1:126,898,611...126,941,893
Ensembl chr 1:130,543,043...130,586,147
JBrowse link
G VPS72 vacuolar protein sorting 72 homolog ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 1:126,525,642...126,539,432
Ensembl chr 1:130,174,051...130,187,785
JBrowse link
G ZNF687 zinc finger protein 687 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 1:126,643,627...126,654,154
Ensembl chr 1:130,294,126...130,300,949
JBrowse link
early infantile epileptic encephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD16B abhydrolase domain containing 16B ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... Ensembl chr20:61,783,486...61,784,895 JBrowse link
G ADRM1 ADRM1 26S proteasome ubiquitin receptor ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:58,667,601...58,673,566
Ensembl chr20:59,985,358...59,991,668
JBrowse link
G AK1 adenylate kinase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 9:98,987,348...98,997,252
Ensembl chr 9:127,657,338...127,678,245
JBrowse link
G ANGPTL2 angiopoietin like 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:98,206,703...98,242,169
Ensembl chr 9:126,861,212...126,896,677
JBrowse link
G ANO9 anoctamin 9 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:415,570...441,389
Ensembl chr11:453,054...477,950
JBrowse link
G AP2A2 adaptor related protein complex 2 subunit alpha 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:945,170...1,034,860
Ensembl chr11:1,005,473...1,076,652
JBrowse link
G ARFGAP1 ADP ribosylation factor GTPase activating protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:59,656,731...59,674,802
Ensembl chr20:61,197,583...61,214,635
JBrowse link
G ARFRP1 ADP ribosylation factor related protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... Ensembl chr20:61,622,386...61,630,949 JBrowse link
G ARHGEF15 Rho guanine nucleotide exchange factor 15 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar PMID:9536098 PMID:17576681 PMID:23647072 PMID:25741868 PMID:28166811 More... NCBI chr17:43,336,764...43,349,787
Ensembl chr17:48,070,223...48,082,499
JBrowse link
G ART1 ADP-ribosyltransferase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:3,523,996...3,542,778
Ensembl chr11:3,631,635...3,649,888
JBrowse link
G ART5 ADP-ribosyltransferase 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:3,517,870...3,522,726
Ensembl chr11:3,624,409...3,628,204
JBrowse link
G ASCL2 achaete-scute family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:2,305,497...2,308,080 JBrowse link
G B4GALNT4 beta-1,4-N-acetyl-galactosaminyltransferase 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:369,563...381,909 JBrowse link
G BBLN bublin coiled coil protein ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 9:99,281,258...99,284,930
Ensembl chr 9:127,951,037...127,954,779