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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 chr13:134,082,266...134,124,826
Ensembl chr13:134,081,697...134,124,826 		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 NCBI chr 3:18,048,614...18,052,481 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 4:90,341,316...90,371,040
Ensembl chr 4:90,291,344...90,396,160 		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 chr15:72,040,854...72,242,269
Ensembl chr15:72,040,851...72,236,464 		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 chr15:72,276,502...72,343,524
Ensembl chr15:72,293,614...72,342,435 		JBrowse link
G LOC100515171 sodium channel protein type 2 subunit alpha ISO OMIM NCBI chr15:71,864,753...71,999,219
Ensembl chr15:71,864,739...71,999,212 		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 chr15:72,529,866...72,696,715
Ensembl chr15:72,529,875...72,678,067 		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 chr15:71,717,330...71,824,190
Ensembl chr15:71,717,334...71,824,160 		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 chr15:72,745,706...72,912,352
Ensembl chr15:72,748,692...72,912,407 		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 chr15:72,430,250...72,512,503
Ensembl chr15:72,430,725...72,512,491 		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 4:8,669,969...8,978,656
Ensembl chr 4:8,670,176...8,970,342 		JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 ISO OMIM NCBI chr 5:16,977,468...17,173,831
Ensembl chr 5:16,977,700...17,169,564 		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 4:8,078,163...8,110,906
Ensembl chr 4:8,078,156...8,110,829 		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 chr15:72,040,854...72,242,269
Ensembl chr15:72,040,851...72,236,464 		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 4:8,531,612...8,605,904
Ensembl chr 4:8,532,739...8,608,587 		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 chr15:72,276,502...72,343,524
Ensembl chr15:72,293,614...72,342,435 		JBrowse link
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Benign familial neonatal seizures ClinVar PMID:18625963 PMID:19464834 NCBI chr17:62,459,277...62,506,403
Ensembl chr17:62,459,279...62,506,425 		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 4:8,669,969...8,978,656
Ensembl chr 4:8,670,176...8,970,342 		JBrowse link
G LOC100515171 sodium channel protein type 2 subunit alpha 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 chr15:71,864,753...71,999,219
Ensembl chr15:71,864,739...71,999,212 		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 4:8,014,445...8,069,335
Ensembl chr 4:8,014,446...8,069,333 		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 4:8,394,874...8,468,309
Ensembl chr 4:8,394,861...8,468,513 		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 chr15:72,529,866...72,696,715
Ensembl chr15:72,529,875...72,678,067 		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 chr15:71,717,330...71,824,190
Ensembl chr15:71,717,334...71,824,160 		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 chr15:72,745,706...72,912,352
Ensembl chr15:72,748,692...72,912,407 		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 4:8,166,829...8,247,396 JBrowse link
G TG thyroglobulin ISO ClinVar Annotator: match by term: Benign familial neonatal seizures ClinVar PMID:28492532 PMID:29383681 PMID:29852413 NCBI chr 4:8,158,395...8,382,435
Ensembl chr 4:8,158,396...8,382,435 		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 4:8,467,572...8,516,316
Ensembl chr 4:8,486,002...8,516,296 		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 chr15:72,430,250...72,512,503
Ensembl chr15:72,430,725...72,512,491 		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 chr 6:49,905,851...49,927,437 JBrowse link
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 ISO OMIM NCBI chr17:62,459,277...62,506,403
Ensembl chr17:62,459,279...62,506,425 		JBrowse link
Benign Familial Neonatal Seizures, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Benign familial neonatal seizures 2 ClinVar PMID:12742592 PMID:15249611 PMID:17129708 PMID:28492532 PMID:29314763 More... NCBI chr17:62,459,277...62,506,403
Ensembl chr17:62,459,279...62,506,425 		JBrowse link
G KCNQ3 potassium voltage-gated channel subfamily Q member 3 ISO OMIM NCBI chr 4:8,669,969...8,978,656
Ensembl chr 4:8,670,176...8,970,342 		JBrowse link
Benign Neonatal Epilepsy 1, and/or Myokymia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Epilepsy, benign neonatal, 1, and/or myokymia ClinVar PMID:24375629 PMID:25741868 NCBI chr17:62,459,277...62,506,403
Ensembl chr17:62,459,279...62,506,425 		JBrowse link
Benign Neonatal Epilepsy, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Benign Neonatal Epilepsy 1 ClinVar PMID:2847176 PMID:3360469 PMID:4055306 PMID:9425895 PMID:9536098 More... NCBI chr17:62,459,277...62,506,403
Ensembl chr17:62,459,279...62,506,425 		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 2:129,663,226...129,709,728
Ensembl chr 2:129,662,296...129,713,729 		JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 ISO RGD PMID:12953268 RGD:1358436 NCBI chr 4:90,341,316...90,371,040
Ensembl chr 4:90,291,344...90,396,160 		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 chr15:72,040,854...72,242,269
Ensembl chr15:72,040,851...72,236,464 		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 chr15:72,276,502...72,343,524
Ensembl chr15:72,293,614...72,342,435 		JBrowse link
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19380078 PMID:26910900 NCBI chr17:62,459,277...62,506,403
Ensembl chr17:62,459,279...62,506,425 		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 4:8,669,969...8,978,656
Ensembl chr 4:8,670,176...8,970,342 		JBrowse link
G LOC100515171 sodium channel protein type 2 subunit alpha 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 chr15:71,864,753...71,999,219
Ensembl chr15:71,864,739...71,999,212 		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 chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,153...54,906,856 		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 chr15:72,529,866...72,696,715
Ensembl chr15:72,529,875...72,678,067 		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 chr15:71,717,330...71,824,190
Ensembl chr15:71,717,334...71,824,160 		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 chr15:72,745,706...72,912,352
Ensembl chr15:72,748,692...72,912,407 		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 chr15:72,430,250...72,512,503
Ensembl chr15:72,430,725...72,512,491 		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:43,250,449...43,284,458
Ensembl chr  X:43,246,786...43,283,990 		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:43,128,938...43,146,777
Ensembl chr  X:43,129,062...43,146,770 		JBrowse link
G CCDC22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:43,285,232...43,303,865
Ensembl chr  X:43,285,246...43,307,204 		JBrowse link
G CLCN5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:43,779,016...43,809,472
Ensembl chr  X:43,613,756...43,813,140 		JBrowse link
G EBP EBP cholestenol delta-isomerase ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:42,670,592...42,678,571 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:42,942,033...42,946,715 JBrowse link
G FOXP3 forkhead box P3 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:43,303,777...43,328,164
Ensembl chr  X:43,303,782...43,328,735 		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:42,898,431...42,905,939
Ensembl chr  X:42,898,442...42,905,976 		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:42,877,034...42,889,285
Ensembl chr  X:42,877,140...42,889,271 		JBrowse link
G GPKOW G-patch domain and KOW motifs ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:43,177,264...43,192,021
Ensembl chr  X:43,177,264...43,191,830 		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:43,043,613...43,070,363
Ensembl chr  X:43,043,029...43,070,669 		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:42,917,911...42,941,894
Ensembl chr  X:42,917,960...42,941,890 		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:43,032,355...43,043,310
Ensembl chr  X:43,032,357...43,041,760 		JBrowse link
G LOC100513450 P antigen family member 4 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:43,489,559...43,496,654
Ensembl chr  X:43,490,120...43,496,656 		JBrowse link
G MAGIX MAGI family member, X-linked ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:43,206,680...43,212,889
Ensembl chr  X:43,207,054...43,211,628 		JBrowse link
G MIR532 microRNA mir-532 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:43,705,258...43,705,337
Ensembl chr  X:43,705,258...43,705,337 		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:43,001,491...43,029,471
Ensembl chr  X:43,000,227...43,029,465 		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:42,947,688...42,952,222
Ensembl chr  X:42,947,686...42,952,221 		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:42,993,547...42,998,575
Ensembl chr  X:42,993,551...42,998,576 		JBrowse link
G PLP2 proteolipid protein 2 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:43,215,372...43,218,318
Ensembl chr  X:43,215,282...43,220,623 		JBrowse link
G PPP1R3F protein phosphatase 1 regulatory subunit 3F ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:43,328,199...43,344,503
Ensembl chr  X:43,328,127...43,344,492 		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:42,976,086...42,981,732
Ensembl chr  X:42,975,410...42,981,725 		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:43,147,473...43,150,350 JBrowse link
G PRICKLE3 prickle planar cell polarity protein 3 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:43,218,271...43,230,368
Ensembl chr  X:43,218,271...43,230,819 		JBrowse link
G RBM3 RNA binding motif protein 3 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:42,704,019...42,707,587
Ensembl chr  X:42,704,026...42,707,584 		JBrowse link
G SLC35A2 solute carrier family 35 member A2 ISO OMIM NCBI chr  X:42,981,801...42,992,091
Ensembl chr  X:42,981,803...42,992,081 		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:42,797,309...42,811,457
Ensembl chr  X:42,797,828...42,814,003 		JBrowse link
G SYP synaptophysin ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:43,232,190...43,246,764
Ensembl chr  X:43,232,195...43,246,682 		JBrowse link
G TBC1D25 TBC1 domain family member 25 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:42,682,267...42,696,579
Ensembl chr  X:42,682,268...42,696,579 		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:43,100,375...43,116,377
Ensembl chr  X:43,100,005...43,116,227 		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:42,970,586...42,976,287
Ensembl chr  X:42,970,092...42,976,440 		JBrowse link
G USP27X ubiquitin specific peptidase 27 X-linked ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:43,553,454...43,557,247
Ensembl chr  X:43,555,005...43,556,321 		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:42,774,597...42,793,055
Ensembl chr  X:42,774,588...42,793,055 		JBrowse link
G WDR13 WD repeat domain 13 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:42,715,097...42,730,200
Ensembl chr  X:42,722,785...42,730,199 		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:43,150,691...43,155,981
Ensembl chr  X:43,147,476...43,156,195 		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 chr 3:39,689,133...39,732,466
Ensembl chr 3:39,689,202...39,732,979 		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:91,644,586...91,708,695 JBrowse link
G ARX aristaless related homeobox ISO OMIM NCBI chr  X:21,067,631...21,079,850
Ensembl chr  X:21,067,613...21,079,524 		JBrowse link
G BRICD5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr 3:39,780,707...39,782,478
Ensembl chr 3:39,780,940...39,782,466 		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 chr 2:65,491,784...65,871,068 JBrowse link
G CASKIN1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr 3:39,794,400...39,811,381
Ensembl chr 3:39,794,450...39,810,318 		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 chr 3:39,585,597...39,603,088
Ensembl chr 3:39,585,602...39,603,083 		JBrowse link
G DNASE1L2 deoxyribonuclease 1 like 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr 3:39,757,725...39,761,497 JBrowse link
G E4F1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr 3:39,757,679...39,773,024
Ensembl chr 3:39,757,290...39,772,208 		JBrowse link
G ECI1 enoyl-CoA delta isomerase 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr 3:39,750,742...39,758,516 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 chr 1:140,566,443...140,906,516
Ensembl chr 1:140,566,287...140,905,658 		JBrowse link
G GNAO1 G protein subunit alpha o1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr 6:29,416,574...29,592,874
Ensembl chr 6:29,416,708...29,592,516 		JBrowse link
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24747641 NCBI chr16:29,439,294...29,808,855
Ensembl chr16:29,439,263...29,809,748 		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 4:109,534,923...109,570,172
Ensembl chr 4:109,557,377...109,560,998 		JBrowse link
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:62,459,277...62,506,403
Ensembl chr17:62,459,279...62,506,425 		JBrowse link
G LOC100523244 casein kinase I ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar NCBI chr 5:9,594,461...9,620,483 JBrowse link
G MAF MAF bZIP transcription factor ISO ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1		 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 6:8,468,736...8,910,012
Ensembl chr 6:8,468,112...8,485,223 		JBrowse link
G MLST8 MTOR associated protein, LST8 homolog ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr 3:39,778,746...39,786,206
Ensembl chr 3:39,778,754...39,788,309 		JBrowse link
G NAPB NSF attachment protein beta ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar NCBI chr17:30,361,439...30,396,105
Ensembl chr17:30,359,420...30,396,078 		JBrowse link
G NRXN2 neurexin 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar NCBI chr 2:7,454,771...7,554,180
Ensembl chr 2:7,478,750...7,515,943 		JBrowse link
G NTN3 netrin 3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr 3:39,572,430...39,575,717
Ensembl chr 3:39,572,531...39,574,971 		JBrowse link
G PGP phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr 3:39,776,815...39,779,669
Ensembl chr 3:39,776,839...39,779,670 		JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr 3:39,849,579...39,899,455
Ensembl chr 3:39,849,609...39,899,455 		JBrowse link
G PLCB1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr17:17,007,197...17,745,314
Ensembl chr17:17,007,261...17,745,312 		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:20,756,674...21,064,265
Ensembl chr  X:20,756,201...21,102,061 		JBrowse link
G RAB26 RAB26, member RAS oncogene family ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr 3:39,831,981...39,837,510
Ensembl chr 3:39,831,982...39,837,440 		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 chr 3:39,739,058...39,749,600
Ensembl chr 3:39,739,308...39,758,376 		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 chr15:72,529,866...72,696,715
Ensembl chr15:72,529,875...72,678,067 		JBrowse link
G SLC35A2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr  X:42,981,801...42,992,091
Ensembl chr  X:42,981,803...42,992,081 		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 6:167,363,348...167,596,892
Ensembl chr 6:167,363,355...167,595,871 		JBrowse link
G SYNJ1 synaptojanin 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr13:196,230,101...196,330,512
Ensembl chr13:196,230,089...196,330,465 		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 6:167,811,589...167,861,321
Ensembl chr 6:167,811,594...167,861,307 		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 chr 3:39,545,688...39,572,320 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 chr 3:39,580,181...39,584,414
Ensembl chr 3:39,580,200...39,584,386 		JBrowse link
G TRAF7 TNF receptor associated factor 7 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr 3:39,811,803...39,828,450
Ensembl chr 3:39,810,606...39,828,395 		JBrowse link
G TSC2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr 3:39,898,924...39,935,579
Ensembl chr 3:39,898,922...39,937,371 		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 chr 6:8,910,209...9,871,048
Ensembl chr 6:8,911,139...9,871,102 		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 chr15:72,040,854...72,242,269
Ensembl chr15:72,040,851...72,236,464 		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 chr15:72,276,502...72,343,524
Ensembl chr15:72,293,614...72,342,435 		JBrowse link
G LOC100515171 sodium channel protein type 2 subunit alpha ISO OMIM NCBI chr15:71,864,753...71,999,219
Ensembl chr15:71,864,739...71,999,212 		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 chr15:72,529,866...72,696,715
Ensembl chr15:72,529,875...72,678,067 		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 chr15:71,717,330...71,824,190
Ensembl chr15:71,717,334...71,824,160 		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 chr15:72,745,706...72,912,352
Ensembl chr15:72,748,692...72,912,407 		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 chr15:72,430,250...72,512,503
Ensembl chr15:72,430,725...72,512,491 		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 chr17:17,007,197...17,745,314
Ensembl chr17:17,007,261...17,745,312 		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 chr 6:54,870,359...54,880,814
Ensembl chr 6:54,870,361...54,880,807 		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 chr 5:16,977,468...17,173,831
Ensembl chr 5:16,977,700...17,169,564 		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
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
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
G ARRDC1 arrestin domain containing 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532
G C8G complement C8 gamma chain ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532
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
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
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
G CLIC3 chloride intracellular channel 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532
G CYSRT1 cysteine rich tail 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532
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
G DNLZ DNL-type zinc finger ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532
G DPH7 diphthamide biosynthesis 7 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532
G DPP7 dipeptidyl peptidase 7 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532
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
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
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
G ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532
G ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532
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
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
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
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
G FUT7 fucosyltransferase 7 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532
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
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
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
G KCNT1 potassium sodium-activated channel subfamily T member 1 ISO OMIM
G LCN10 lipocalin 10 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532
G LCN12 lipocalin 12 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532
G LCN15 lipocalin 15 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532
G LCN6 lipocalin 6 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532
G LHX3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532
G LOC100513261 14 kDa phosphohistidine phosphatase ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532
G LOC100515171 sodium channel protein type 2 subunit alpha ISO ClinVar Annotator: match by term: Malignant migrating partial seizures of infancy ClinVar PMID:25741868 NCBI chr15:71,864,753...71,999,219
Ensembl chr15:71,864,739...71,999,212 		JBrowse link
G LOC110258087 endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase-like ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532
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
G MIR126 microRNA mir-126 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532
G MRPL41 mitochondrial ribosomal protein L41 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532
G NACC2 NACC family member 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532
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
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
G NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532
G NOXA1 NADPH oxidase activator 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532
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
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
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
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
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
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
G PTGDS prostaglandin D2 synthase ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532
G QSOX2 quiescin sulfhydryl oxidase 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532
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
G RNF208 ring finger protein 208 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532
G RNF224 ring finger protein 224 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532
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
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
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
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
G SSNA1 SS nuclear autoantigen 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532
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
G TMEM141 transmembrane protein 141 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532
G TMEM203 transmembrane protein 203 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532
G TMEM210 transmembrane protein 210 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532
G TMEM250 transmembrane protein 250 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532
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
G TPRN taperin ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532
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
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
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
G UBAC1 UBA domain containing 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532
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
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 6:167,363,348...167,596,892
Ensembl chr 6:167,363,355...167,595,871 		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 chr 3:39,545,688...39,572,320 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 chr 6:29,416,574...29,592,874
Ensembl chr 6:29,416,708...29,592,516 		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 6:167,811,589...167,861,321
Ensembl chr 6:167,811,594...167,861,307 		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 chr16:61,656,583...61,723,428
Ensembl chr16:61,656,583...61,724,257 		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:15,370,327...15,518,746
Ensembl chr  X:15,371,805...15,463,615 		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:16,252,407...16,312,426
Ensembl chr  X:16,252,414...16,312,439 		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:14,635,795...14,703,934 JBrowse link
G CDKL5 cyclin dependent kinase like 5 severity ISO DNA:mutations:cds: OMIM
RGD		 PMID:22678952 RGD:12791015 NCBI chr  X:14,858,826...15,096,969
Ensembl chr  X:14,858,931...15,078,855 		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:16,429,625...16,449,581
Ensembl chr  X:16,429,627...16,449,557 		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:15,716,898...15,867,377
Ensembl chr  X:15,715,991...15,867,120 		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:16,327,718...16,423,546
Ensembl chr  X:16,327,965...16,423,375 		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:13,854,950...14,209,085
Ensembl chr  X:13,855,340...14,209,664 		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:15,699,924...15,718,908
Ensembl chr  X:15,700,050...15,718,904 		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:15,279,398...15,365,731
Ensembl chr  X:15,283,102...15,365,565 		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:15,111,230...15,251,415
Ensembl chr  X:15,111,328...15,251,232 		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:14,246,776...14,633,071
Ensembl chr  X:14,244,279...14,309,143 		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:16,452,401...16,576,854
Ensembl chr  X:16,452,405...16,575,364 		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:15,080,972...15,099,426
Ensembl chr  X:15,084,043...15,108,937 		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:14,210,164...14,222,053 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:14,715,357...14,823,016
Ensembl chr  X:14,717,605...14,823,413 		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:15,887,131...16,229,212
Ensembl chr  X:15,885,412...16,224,238 		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 chr 5:62,603,260...62,648,170
Ensembl chr 5:62,603,252...62,648,101 		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 chr 3:25,296,202...25,327,054
Ensembl chr 3:25,296,204...25,327,054 		JBrowse link
G AICDA activation induced cytidine deaminase ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 5:62,777,236...62,787,342
Ensembl chr 5:62,777,352...62,787,483 		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 chr 5:62,811,819...62,820,532
Ensembl chr 5:62,810,879...62,820,173 		JBrowse link
G ATN1 atrophin 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 5:63,782,159...63,795,648
Ensembl chr 5:63,782,162...63,795,648 		JBrowse link
G C1R complement C1r ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 5:63,644,097...63,655,149 JBrowse link
G C1RL complement C1r subcomponent like ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 5:63,623,398...63,640,065
Ensembl chr 5:63,591,517...63,640,063 		JBrowse link
G C1S complement C1s ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 5:63,670,309...63,681,466 JBrowse link
G C3AR1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 5:63,088,778...63,098,750 JBrowse link
G C5H12orf57 chromosome 5 C12orf57 homolog ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 5:63,779,510...63,781,307
Ensembl chr 5:63,779,511...63,781,308 		JBrowse link
G CD163 CD163 molecule ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 5:63,300,200...63,334,497
Ensembl chr 5:63,300,146...63,334,498 		JBrowse link
G CD163L1 CD163 molecule-like 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 5:63,488,674...63,514,536 JBrowse link
G CDCA3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 5:63,858,905...63,861,902
Ensembl chr 5:63,859,538...63,864,269 		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 chr 5:63,219,229...63,228,566 JBrowse link
G CLSTN3 calsyntenin 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 5:63,572,062...63,612,177
Ensembl chr 5:63,572,062...63,610,618 		JBrowse link
G DPPA3 developmental pluripotency associated 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 5:62,861,492...62,868,131 JBrowse link
G EMG1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 5:63,746,326...63,751,469
Ensembl chr 5:63,745,476...63,751,469 		JBrowse link
G ENO2 enolase 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 5:63,799,927...63,809,067
Ensembl chr 5:63,799,339...63,836,688 		JBrowse link
G FOXJ2 forkhead box J2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 5:63,061,978...63,087,689
Ensembl chr 5:63,061,978...63,087,686 		JBrowse link
G GDF3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 5:62,835,926...62,841,827
Ensembl chr 5:62,835,979...62,841,665 		JBrowse link
G GNB3 G protein subunit beta 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 5:63,863,656...63,871,352
Ensembl chr 5:63,863,661...63,870,433 		JBrowse link
G LOC110258709 C-type lectin domain family 4 member A-like ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532
G LPCAT3 lysophosphatidylcholine acyltransferase 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 5:63,707,674...63,746,369
Ensembl chr 5:63,708,010...63,756,476 		JBrowse link
G LRRC23 leucine rich repeat containing 23 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 5:63,809,298...63,836,629
Ensembl chr 5:63,809,306...63,817,225 		JBrowse link
G MFAP5 microfibril associated protein 5 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 5:62,742,520...62,757,522
Ensembl chr 5:62,742,315...62,759,190 		JBrowse link
G NANOG Nanog homeobox ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 5:62,931,642...62,939,086
Ensembl chr 5:62,932,382...62,939,082 		JBrowse link
G NANOGNB NANOG neighbor homeobox ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 5:62,900,756...62,905,366 JBrowse link
G NECAP1 NECAP endocytosis associated 1 ISO OMIM NCBI chr 5:63,122,280...63,135,550
Ensembl chr 5:63,122,325...63,188,981 		JBrowse link
G P3H3 prolyl 3-hydroxylase 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 5:63,871,506...63,885,294
Ensembl chr 5:63,871,508...63,884,835 		JBrowse link
G PEX5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 5:63,542,422...63,562,762
Ensembl chr 5:63,542,431...63,562,849 		JBrowse link
G PHB2 prohibitin 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 5:63,751,566...63,756,480
Ensembl chr 5:63,751,558...63,756,478 		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 chr 5:63,762,109...63,779,086
Ensembl chr 5:63,762,112...63,808,350 		JBrowse link
G RBP5 retinol binding protein 5 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 5:63,601,101...63,605,301 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 chr 5:62,676,220...62,715,273
Ensembl chr 5:62,676,223...62,715,071 		JBrowse link
G SLC2A3 solute carrier family 2 member 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 5:62,963,635...63,041,955 JBrowse link
G TPI1 triosephosphate isomerase 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 5:63,839,473...63,842,853
Ensembl chr 5:63,837,506...63,843,137 		JBrowse link
G USP5 ubiquitin specific peptidase 5 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 5:63,843,742...63,858,835
Ensembl chr 5:63,843,742...63,858,751 		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 6:149,836,417...149,845,854
Ensembl chr 6:149,832,541...149,845,831 		JBrowse link
G DOCK7 dedicator of cytokinesis 7 ISO OMIM NCBI chr 6:149,745,375...149,971,853
Ensembl chr 6:149,747,529...149,972,158 		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 chr16:29,439,294...29,808,855
Ensembl chr16:29,439,263...29,809,748 		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 chr12:52,573,521...52,581,755
Ensembl chr12:52,576,401...52,581,755 		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 chr12:50,903,358...50,917,187
Ensembl chr12:50,903,438...50,920,437 		JBrowse link
G ASGR1 asialoglycoprotein receptor 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr12:52,536,738...52,540,636
Ensembl chr12:52,536,738...52,544,996 		JBrowse link
G ASGR2 asialoglycoprotein receptor 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr12:52,479,404...52,506,569
Ensembl chr12:52,461,396...52,506,574 		JBrowse link
G BCL6B BCL6B transcription repressor ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr12:52,427,405...52,433,231
Ensembl chr12:52,426,941...52,433,231 		JBrowse link
G C12H17orf100 chromosome 12 C17orf100 homolog ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr12:50,644,783...50,728,768 JBrowse link
G C12H17orf49 chromosome 12 C17orf49 homolog ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr12:52,418,989...52,421,938
Ensembl chr12:52,418,484...52,421,955 		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 chr12:52,461,750...52,464,632 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 chr12:52,550,138...52,574,021
Ensembl chr12:52,550,141...52,575,156 		JBrowse link
G FBXO39 F-box protein 39 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr12:50,635,915...50,723,841 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 chr12:50,737,158...50,793,187
Ensembl chr12:50,728,910...50,898,336 		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 chr12:50,728,681...50,734,469
Ensembl chr12:50,728,676...50,736,075 		JBrowse link
G MIR195 microRNA mir-195 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr12:52,422,039...52,422,118
Ensembl chr12:52,422,039...52,422,118 		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 chr12:50,898,493...50,903,238
Ensembl chr12:50,898,501...50,903,464 		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 chr12:50,806,302...50,898,316
Ensembl chr12:50,728,910...50,898,336 		JBrowse link
G RNASEK ribonuclease K ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr12:52,416,903...52,418,876
Ensembl chr12:52,417,135...52,418,873 		JBrowse link
G SLC13A5 solute carrier family 13 member 5 ISO OMIM NCBI chr12:50,679,900...50,710,985
Ensembl chr12:50,679,252...50,710,983 		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 chr12:52,434,607...52,442,476
Ensembl chr12:52,440,113...52,442,435 		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 chr12:52,435,519...52,439,631
Ensembl chr12:52,435,537...52,439,994 		JBrowse link
G TEKT1 tektin 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr12:50,526,188...50,552,083
Ensembl chr12:50,526,190...50,580,553 		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 chr12:50,734,669...50,737,309
Ensembl chr12:50,734,619...50,737,309 		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 chr17:50,631,844...50,732,253
Ensembl chr17:50,631,092...50,732,243 		JBrowse link
G CSE1L chromosome segregation 1 like ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 26 ClinVar PMID:28492532 NCBI chr17:50,744,896...50,796,835
Ensembl chr17:50,744,910...50,797,548 		JBrowse link
G DDX27 DEAD-box helicase 27 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 26 ClinVar PMID:28492532 NCBI chr17:50,903,247...50,923,484
Ensembl chr17:50,903,198...50,924,813 		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 chr17:51,032,163...51,152,566
Ensembl chr17:51,039,956...51,144,696 		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 chr17:50,804,959...50,903,155
Ensembl chr17:50,804,962...50,869,225 		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 chr17:50,925,789...50,958,722
Ensembl chr17:50,925,789...50,958,705 		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 chr 5:58,477,862...58,948,735
Ensembl chr 5:58,480,526...58,927,583 		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 chr15:3,649,859...4,096,459
Ensembl chr15:3,659,015...4,096,248 		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 chr 6:8,468,736...8,910,012
Ensembl chr 6:8,468,112...8,485,223 		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 9:124,776,516...124,813,358
Ensembl chr 9:124,773,498...124,812,928 		JBrowse link
G WWOX WW domain containing oxidoreductase ISO OMIM NCBI chr 6:8,910,209...9,871,048
Ensembl chr 6:8,911,139...9,871,102 		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 chr 6:13,298,336...13,321,423
Ensembl chr 6:13,298,348...13,321,364 		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 chr 2:491,288...498,773
Ensembl chr 2:491,299...498,769 		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 chr13:206,803,219...206,906,363
Ensembl chr13:206,751,103...206,906,353 		JBrowse link
G CBS cystathionine beta-synthase ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr13:206,205,942...206,231,363 JBrowse link
G CRYAA crystallin alpha A ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr13:206,293,877...206,297,050 JBrowse link
G CSTB cystatin B ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr13:206,706,060...206,710,598
Ensembl chr13:206,706,063...206,710,646 		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 chr13:207,042,929...207,051,814 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 chr13:206,545,353...206,629,151 JBrowse link
G NDUFV3 NADH:ubiquinone oxidoreductase subunit V3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr13:206,111,337...206,123,987 JBrowse link
G PDE9A phosphodiesterase 9A ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr13:205,938,342...206,034,981
Ensembl chr13:205,938,334...206,034,981 		JBrowse link
G PDXK pyridoxal kinase ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr13:206,676,905...206,699,047
Ensembl chr13:206,676,730...206,703,327 		JBrowse link
G PKNOX1 PBX/knotted 1 homeobox 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr13:206,159,264...206,195,471
Ensembl chr13:206,151,647...206,195,470 		JBrowse link
G PWP2 PWP2 small subunit processome component ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr13:207,015,047...207,031,752 JBrowse link
G RRP1 ribosomal RNA processing 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr13:206,722,591...206,736,000
Ensembl chr13:206,722,595...206,735,997 		JBrowse link
G RRP1B ribosomal RNA processing 1B ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr13:206,629,176...206,653,374
Ensembl chr13:206,629,178...206,653,371 		JBrowse link
G RSPH1 radial spoke head component 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr13:205,808,923...205,827,098
Ensembl chr13:205,806,686...205,827,204 		JBrowse link
G SIK1 salt inducible kinase 1 ISO OMIM NCBI chr13:206,454,695...206,465,802 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 chr13:205,826,948...205,901,824
Ensembl chr13:205,826,779...205,904,276 		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 chr13:206,936,311...207,013,112
Ensembl chr13:206,934,972...207,013,102 		JBrowse link
G U2AF1 U2 small nuclear RNA auxiliary factor 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr13:206,244,772...206,257,697 JBrowse link
G WDR4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr13:206,074,943...206,094,713
Ensembl chr13:206,074,943...206,094,297 		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 1:268,355,032...268,365,659
Ensembl chr 1:268,355,032...268,365,598 		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 1:267,639,636...267,672,918
Ensembl chr 1:267,639,636...267,672,923 		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 1:268,616,040...268,619,638 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 1:268,277,083...268,280,493
Ensembl chr 1:268,275,891...268,281,057 		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 1:268,209,190...268,213,909
Ensembl chr 1:268,209,396...268,213,921 		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 1:268,618,972...268,642,064
Ensembl chr 1:268,617,087...268,642,058 		JBrowse link
G DNM1 dynamin 1 ISO OMIM NCBI chr 1:268,653,045...268,702,233
Ensembl chr 1:268,653,039...268,702,223 		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 1:268,420,273...268,423,557
Ensembl chr 1:268,418,444...268,423,552 		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 1:268,309,379...268,343,861
Ensembl chr 1:268,306,120...268,343,827 		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 1:268,281,298...268,309,397
Ensembl chr 1:268,287,729...268,309,411 		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 1:267,772,408...267,922,731
Ensembl chr 1:267,771,636...267,923,392 		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 1:268,609,975...268,614,651 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 1:267,207,273...267,290,862
Ensembl chr 1:267,207,561...267,291,145 		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 1:267,964,875...268,008,833
Ensembl chr 1:267,964,928...268,008,825 		JBrowse link
G MIR199B microRNA mir-199b 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 1:268,691,520...268,691,593
Ensembl chr 1:268,691,502...268,691,610 		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 1:268,522,131...268,531,528 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 1:268,010,297...268,066,022
Ensembl chr 1:268,010,297...268,065,930 		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 1:268,409,113...268,417,580
Ensembl chr 1:268,408,032...268,421,829 		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 1:268,585,725...268,591,356
Ensembl chr 1:268,583,439...268,590,855 		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 1:268,213,685...268,215,498
Ensembl chr 1:268,213,687...268,215,523 		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 1:267,437,066...267,770,444
Ensembl chr 1:267,480,750...267,770,442 		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 1:267,961,398...267,964,881 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 1:268,238,967...268,270,395
Ensembl chr 1:268,237,679...268,270,361 		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 1:268,531,752...268,575,195
Ensembl chr 1:268,531,752...268,576,996 		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 1:267,925,184...267,934,096
Ensembl chr 1:267,925,193...267,937,038 		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 1:268,391,851...268,402,449
Ensembl chr 1:268,391,854...268,402,407 		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 1:268,371,569...268,383,559 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 1:268,116,124...268,205,805
Ensembl chr 1:268,116,118...268,213,921 		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 1:268,233,103...268,237,478
Ensembl chr 1:268,233,110...268,237,459 		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 1:268,215,559...268,233,175
Ensembl chr 1:268,215,993...268,233,171 		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 1:267,436,988...267,465,619
Ensembl chr 1:267,436,990...267,465,619 		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 1:267,391,575...267,410,947
Ensembl chr 1:267,391,621...267,413,600 		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 1:267,941,953...267,959,754
Ensembl chr 1:267,942,101...267,966,192 		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 4:109,534,923...109,570,172
Ensembl chr 4:109,557,377...109,560,998 		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 NCBI chr17:62,729,995...62,732,060
Ensembl chr17:62,730,062...62,731,474 		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 chr17:61,692,923...61,698,138
Ensembl chr17:61,692,945...61,698,146 		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 chr17:62,380,060...62,391,836 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 NCBI chr17:62,636,584...62,642,485
Ensembl chr17:62,636,588...62,642,490 		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 chr17:62,217,583...62,228,599 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 chr17:62,351,663...62,356,220 JBrowse link
G CABLES2 Cdk5 and Abl enzyme substrate 2 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:61,764,933...61,778,394
Ensembl chr17:61,764,937...61,778,418 		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 chr17:62,424,672...62,436,646
Ensembl chr17:62,420,546...62,436,165 		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 chr17:62,395,383...62,419,054 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 chr17:62,074,108...62,094,228
Ensembl chr17:62,075,125...62,093,540 		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 chr17:62,126,026...62,174,095
Ensembl chr17:62,125,122...62,174,071 		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 NCBI chr17:62,754,630...62,780,470
Ensembl chr17:62,773,940...62,777,311 		JBrowse link
G EEF1A2 eukaryotic translation elongation factor 1 alpha 2 ISO OMIM NCBI chr17:62,517,811...62,526,379
Ensembl chr17:62,517,503...62,526,384 		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 NCBI chr17:62,558,294...62,559,961
Ensembl chr17:62,556,867...62,560,616 		JBrowse link
G GATA5 GATA binding protein 5 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:61,824,891...61,834,742
Ensembl chr17:61,824,899...61,834,267 		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 chr17:62,174,222...62,181,107
Ensembl chr17:62,033,014...62,181,480 		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 NCBI chr17:62,568,546...62,595,880
Ensembl chr17:62,568,547...62,584,822 		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 NCBI chr 6:59,916,378...59,932,537
Ensembl chr 6:59,919,847...59,931,735 		JBrowse link
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 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 chr17:62,459,277...62,506,403
Ensembl chr17:62,459,279...62,506,425 		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 chr17:61,698,370...61,747,795 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 NCBI chr17:62,652,618...62,655,342 JBrowse link
G MIR1 microRNA mir-1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:61,894,036...61,894,143
Ensembl chr17:61,894,036...61,894,143 		JBrowse link
G MIR133A-1 microRNA mir-133a-1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:61,904,781...61,904,883
Ensembl chr17:61,904,781...61,904,883 		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 chr17:62,058,401...62,062,962 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 chr17:62,356,862...62,369,461
Ensembl chr17:62,356,422...62,380,859 		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 chr17:61,989,601...62,038,299
Ensembl chr17:61,989,112...62,035,345 		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 chr17:62,065,483...62,072,950
Ensembl chr17:62,065,456...62,072,950 		JBrowse link
G OSBPL2 oxysterol binding protein like 2 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:61,643,263...61,683,178
Ensembl chr17:61,643,366...61,685,819 		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... NCBI chr17:62,537,510...62,539,012 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 NCBI chr17:62,815,509...62,857,795
Ensembl chr17:62,815,284...62,861,865 		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 NCBI chr17:62,538,853...62,547,866
Ensembl chr17:62,538,855...62,546,730 		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 chr17:61,778,579...61,794,258
Ensembl chr17:61,778,568...61,794,352 		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 chr17:61,763,606...61,764,823
Ensembl chr17:61,763,552...61,764,824 		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 NCBI chr17:62,611,844...62,636,628 JBrowse link
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 NCBI chr17:62,809,504...62,813,993
Ensembl chr17:62,809,505...62,813,991 		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 chr17:62,186,114...62,200,091
Ensembl chr17:62,186,092...62,200,081 		JBrowse link
G SLC2A4RG SLC2A4 regulator ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:62,655,992...62,659,620
Ensembl chr17:62,653,032...62,659,617 		JBrowse link
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 chr17:61,947,636...61,969,391
Ensembl chr17:61,947,595...61,970,779 		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 NCBI chr17:62,549,025...62,555,904
Ensembl chr17:62,549,183...62,557,988 		JBrowse link
G STMN3 stathmin 3 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:62,600,450...62,609,851
Ensembl chr17:62,551,171...62,608,843 		JBrowse link
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 chr17:62,093,906...62,115,669
Ensembl chr17:62,085,327...62,115,716 		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 NCBI chr17:62,635,024...62,637,520 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 NCBI chr17:62,733,555...62,750,566
Ensembl chr17:62,733,593...62,750,557 		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 NCBI chr17:62,785,419...62,796,396
Ensembl chr17:62,785,419...62,807,552 		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 chr17:62,329,302...62,341,312
Ensembl chr17:62,329,302...62,341,509 		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 NCBI chr17:62,659,779...62,715,221
Ensembl chr17:62,659,784...62,709,239 		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 NCBI chr17:62,640,988...62,652,478
Ensembl chr17:62,635,018...62,655,865 		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 chr17:48,192,072...48,230,674
Ensembl chr17:48,191,988...48,231,294 		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 chr17:32,458,351...32,474,827
Ensembl chr17:32,455,459...32,474,786 		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:91,644,586...91,708,695 JBrowse link
G DCX doublecortin ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 36 ClinVar PMID:28492532 NCBI chr  X:91,317,671...91,644,572
Ensembl chr  X:91,323,768...91,644,567 		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 1:249,898,994...249,905,397 JBrowse link
G CTNNAL1 catenin alpha like 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 37 ClinVar PMID:28492532 NCBI chr 1:250,005,444...250,078,448
Ensembl chr 1:250,004,270...250,182,521 		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 1:249,905,550...249,980,570
Ensembl chr 1:249,905,472...249,981,641 		JBrowse link
G FRRS1L ferric chelate reductase 1 like ISO OMIM NCBI chr 1:250,187,568...250,220,716
Ensembl chr 1:250,194,230...250,220,716 		JBrowse link
G MIR32 microRNA mir-32 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 37 ClinVar PMID:28492532 NCBI chr 1:250,115,904...250,115,973
Ensembl chr 1:250,115,904...250,115,973 		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 chr14:59,396,958...59,409,008
Ensembl chr14:59,396,961...59,408,958 		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 chr15:77,895,935...78,021,930
Ensembl chr15:77,895,935...78,098,383 		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:14,858,826...15,096,969
Ensembl chr  X:14,858,931...15,078,855 		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 1:267,964,875...268,008,833
Ensembl chr 1:267,964,928...268,008,825 		JBrowse link
G NIBAN2 niban apoptosis regulator 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 4 ClinVar PMID:25741868 NCBI chr 1:268,010,297...268,066,022
Ensembl chr 1:268,010,297...268,065,930 		JBrowse link
G STXBP1 syntaxin binding protein 1 ISO OMIM NCBI chr 1:268,116,124...268,205,805
Ensembl chr 1:268,116,118...268,213,921 		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 8:35,167,615...35,190,587
Ensembl chr 8:35,167,621...35,190,587 		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 chr 2:25,603,892...25,771,840
Ensembl chr 2:25,604,950...25,848,276 		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 chr 2:65,491,784...65,871,068 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 chr 1:140,566,443...140,906,516
Ensembl chr 1:140,566,287...140,905,658 		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 chr13:73,733,508...73,831,496
Ensembl chr13:73,730,171...73,831,701 		JBrowse link
G UBA5 ubiquitin like modifier activating enzyme 5 ISO OMIM NCBI chr13:73,831,485...73,859,781
Ensembl chr13:73,822,920...73,868,375 		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 8:36,978,014...37,354,950
Ensembl chr 8:36,978,547...37,355,009 		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 chr 6:53,809,590...53,849,535
Ensembl chr 6:53,806,174...53,847,788 		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 chr13:129,237,500...129,817,992
Ensembl chr13:129,240,067...129,817,466 		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 chr 7:52,202,649...52,294,154
Ensembl chr 7:52,202,778...52,294,152 		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 chr 9:268,372...357,334
Ensembl chr 9:268,383...357,329 		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 1:268,936,120...269,002,261
Ensembl chr 1:268,936,025...269,002,261 		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 chr 3:111,887,017...111,914,511
Ensembl chr 3:111,887,020...111,914,495 		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 3:10,120,121...10,132,705
Ensembl chr 3:10,120,084...10,132,830 		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 3:10,131,508...10,212,611
Ensembl chr 3:10,132,016...10,212,748 		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 chr 6:44,597,461...44,607,488
Ensembl chr 6:44,597,713...44,607,490 		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 chr13:196,230,101...196,330,512
Ensembl chr13:196,230,089...196,330,465 		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 chr10:17,475,266...17,497,060
Ensembl chr10:17,475,270...17,497,130 		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 chr13:200,686,716...200,695,537 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 3:9,994,802...10,023,296 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
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 chr10:30,030,050...30,429,938
Ensembl chr10:30,033,379...30,429,882 		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 1:240,107,469...240,495,917
Ensembl chr 1:240,107,465...240,495,907 		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 7:38,014,766...38,025,752
Ensembl chr 7:38,014,750...38,025,159 		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 9:68,253,023...68,490,327
Ensembl chr 9:68,252,704...68,487,619 		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 chr15:71,717,330...71,824,190
Ensembl chr15:71,717,334...71,824,160 		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 8:197,876...231,721
Ensembl chr 8:197,881...232,038 		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 chr14:7,223,209...7,254,813 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 chr16:65,852,584...66,001,576
Ensembl chr16:65,852,588...66,001,559 		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
G PACS2 phosphofurin acidic cluster sorting protein 2 ISO OMIM
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 chr14:32,311,781...32,587,194
Ensembl chr14:32,311,751...32,587,204 		JBrowse link
G SH2B3 SH2B adaptor protein 3 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67 ClinVar PMID:20404132 NCBI chr14:32,623,286...32,664,606
Ensembl chr14:32,623,308...32,664,598 		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 chr13:25,773,345...25,934,770
Ensembl chr13:25,773,981...25,935,828 		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 9:122,827,386...123,318,372
Ensembl chr 9:122,931,808...123,317,141 		JBrowse link
developmental and epileptic encephalopathy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 ISO OMIM NCBI chr17:62,459,277...62,506,403
Ensembl chr17:62,459,279...62,506,425 		JBrowse link
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:59,967,712...60,013,938
Ensembl chr  X:59,967,635...60,120,021 		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 7:9,105,422...9,666,886
Ensembl chr 7:9,105,802...9,675,230 		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 7:9,685,273...9,708,781
Ensembl chr 7:9,685,259...9,708,781 		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 chr15:95,513,414...95,606,029
Ensembl chr15:95,513,380...95,598,311 		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 chr12:22,709,473...22,713,785
Ensembl chr12:22,709,609...22,713,782 		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 chr13:90,034,584...90,178,525
Ensembl chr13:90,034,344...90,178,129 		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 chr16:61,441,622...61,543,375
Ensembl chr16:61,441,626...61,543,361 		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 6:157,588,985...157,595,175
Ensembl chr 6:157,589,024...157,595,171 		JBrowse link
developmental and epileptic encephalopathy 76 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TFR2 transferrin receptor 2 ISO OMIM NCBI chr 3:8,554,322...8,568,774
Ensembl chr 3:8,539,318...8,578,884 		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 NCBI chr 3:41,164,399...41,177,453
Ensembl chr 3:41,160,656...41,176,508 		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 8:36,344,633...36,474,840
Ensembl chr 8:36,347,023...36,502,460 		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 chr 1:140,486,107...140,568,204
Ensembl chr 1:140,486,103...140,567,893 		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:50,159,912...50,578,020 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 chr 1:116,447,171...116,492,917
Ensembl chr 1:116,425,654...116,522,390 		JBrowse link
G PIGB phosphatidylinositol glycan anchor biosynthesis class B ISO OMIM NCBI chr 1:116,492,910...116,519,673
Ensembl chr 1:116,491,886...116,532,934 		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 chr 1:116,519,834...116,522,515 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 chr 1:120,138,249...120,298,603
Ensembl chr 1:120,138,334...120,298,711 		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 chr 6:20,407,203...20,431,849
Ensembl chr 6:20,407,198...20,432,068 		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 chr 3:77,975,450...78,032,471
Ensembl chr 3:77,975,440...78,031,731 		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 8:30,725,281...30,759,359
Ensembl chr 8:30,725,288...30,759,326 		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:46,143,738...46,202,187
Ensembl chr  X:46,144,920...46,220,378 		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 chr13:31,650,880...31,656,320
Ensembl chr13:31,650,875...31,656,326 		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 1:76,839,448...76,863,745
Ensembl chr 1:76,839,731...76,863,738 		JBrowse link
G CDK19 cyclin dependent kinase 19 ISO OMIM NCBI chr 1:76,589,050...76,793,476
Ensembl chr 1:76,589,050...76,793,384 		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 chr 3:78,247,229...78,263,085
Ensembl chr 3:78,244,999...78,440,488 		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 chr15:76,991,863...77,034,819
Ensembl chr15:76,991,928...77,034,817 		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:113,460,191...113,955,691
Ensembl chr  X:113,460,191...113,932,715 		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 4:97,704,805...97,730,498 JBrowse link
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 ISO ClinVar Annotator: match by term: Dravet syndrome ClinVar NCBI chr16:61,441,622...61,543,375
Ensembl chr16:61,441,626...61,543,361 		JBrowse link
G LYSMD1 LysM domain containing 1 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 4:98,082,551...98,093,427
Ensembl chr 4:98,082,540...98,095,322 		JBrowse link
G PI4KB phosphatidylinositol 4-kinase beta ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 4:97,918,234...97,949,929
Ensembl chr 4:97,918,245...97,949,924 		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 4:98,012,941...98,062,166
Ensembl chr 4:98,012,944...98,056,815 		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 4:97,776,579...97,833,287
Ensembl chr 4:97,776,589...97,833,285 		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 4:97,835,544...97,837,909
Ensembl chr 4:97,835,546...97,837,921 		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 4:97,994,060...98,004,727
Ensembl chr 4:97,994,065...98,004,688 		JBrowse link
G RFX5 regulatory factor X5 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 4:97,901,955...97,913,283
Ensembl chr 4:97,888,460...97,913,283 		JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 ISO OMIM NCBI chr15:72,529,866...72,696,715
Ensembl chr15:72,529,875...72,678,067 		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 chr15:72,745,706...72,912,352
Ensembl chr15:72,748,692...72,912,407 		JBrowse link
G SELENBP1 selenium binding protein 1 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 4:97,860,925...97,894,007
Ensembl chr 4:97,849,067...97,894,303 		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 4:97,533,643...97,620,816
Ensembl chr 4:97,525,151...97,620,789 		JBrowse link
G TMOD4 tropomodulin 4 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 4:98,074,380...98,079,346
Ensembl chr 4:98,074,496...98,079,343 		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 4:98,093,426...98,096,819
Ensembl chr 4:98,091,704...98,119,413 		JBrowse link
G TUFT1 tuftelin 1 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 4:97,648,817...97,704,654
Ensembl chr 4:97,645,332...97,703,595 		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 4:98,062,261...98,074,074
Ensembl chr 4:98,062,256...98,074,059 		JBrowse link
G ZNF687 zinc finger protein 687 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 4:97,949,931...97,959,058
Ensembl chr 4:97,949,987...97,958,889 		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... NCBI chr17:62,729,995...62,732,060
Ensembl chr17:62,730,062...62,731,474 		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 chr17:61,692,923...61,698,138
Ensembl chr17:61,692,945...61,698,146 		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 1:268,355,032...268,365,659
Ensembl chr 1:268,355,032...268,365,598 		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 1:267,639,636...267,672,918
Ensembl chr 1:267,639,636...267,672,923 		JBrowse link
G ANO9 anoctamin 9 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:232,761...250,966
Ensembl chr 2:232,197...250,935 		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 chr 2:580,169...628,098
Ensembl chr 2:580,173...628,092 		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 chr17:62,380,060...62,391,836 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... NCBI chr17:62,636,584...62,642,485
Ensembl chr17:62,636,588...62,642,490 		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 chr12:53,495,409...53,506,373
Ensembl chr12:53,495,453...53,506,352 		JBrowse link
G ART1 ADP-ribosyltransferase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 9:6,432,513...6,443,639
Ensembl chr 9:6,433,177...6,443,603 		JBrowse link
G ART5 ADP-ribosyltransferase 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 9:6,443,768...6,449,203 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 chr 2:1,558,459...1,560,112
Ensembl chr 2:1,558,459...1,560,112 		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 chr 2:192,903...206,862
Ensembl chr 2:192,886...204,875 		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 1:268,616,040...268,619,638 JBrowse link
G BHLHE23 basic helix-loop-helix family member e23 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:62,217,583...62,228,599 JBrowse link
G BIRC7 baculoviral IAP repeat containing 7 ISO