Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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)
Synonyms:primary_id: RDO:9002461
 alt_id: RDO:9002708
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 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 SCN3A sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:21416599 PMID:21692795 PMID:21893419 PMID:23016767 PMID:23184456 PMID:26068938 PMID:27153334 PMID:28492532 NCBI chr15:71,717,330...71,824,190
Ensembl chr15:71,717,334...71,824,160
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 PMID:28135719 PMID:28492532 PMID:28628100 PMID:29655203 PMID:30578330 PMID:31177578 PMID:31238879 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 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:14534157 PMID:16235065 PMID:17765802 PMID:18249525 PMID:18354422 PMID:18625963 PMID:19344764 PMID:21687499 PMID:21703448 PMID:23020937 PMID:23146207 PMID:23360469 PMID:23596459 PMID:23934111 PMID:24375629 PMID:25052858 PMID:25278462 PMID:25740509 PMID:25741868 PMID:26350515 PMID:26467025 PMID:28135719 PMID:28492532 PMID:28628100 PMID:29358611 PMID:29383681 PMID:29655203 PMID:30578330 PMID:31177578 PMID:31238879 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 infantile convulsions
ClinVar Annotator: match by term: Benign familial neonatal seizures
ClinVar PMID:11738931 PMID:15048894 PMID:18414213 PMID:18479388 PMID:19702560 PMID:20956790 PMID:22029951 PMID:22581653 PMID:22591750 PMID:23550958 PMID:23849776 PMID:23934111 PMID:23935176 PMID:24579881 PMID:25326635 PMID:25326637 PMID:25741868 PMID:25772804 PMID:25818041 PMID:25937001 PMID:26467025 PMID:26645390 PMID:26648591 PMID:26993267 PMID:27159988 PMID:27328862 PMID:27781031 PMID:27824329 PMID:27867041 PMID:28065826 PMID:28087622 PMID:28379373 PMID:28492532 PMID:28628100 PMID:28708303 PMID:29186148 PMID:32860008 NCBI chr15:71,864,753...71,999,219
Ensembl chr15:71,864,739...71,999,212
JBrowse link
Benign Familial Neonatal Seizures, 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 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 PMID:31199083 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:16916607 PMID:22275249 PMID:22926866 PMID:23621294 PMID:23692823 PMID:25741868 PMID:25959266 PMID:26544041 PMID:27535030 PMID:27602407 PMID:27779742 PMID:28492532 PMID:30185235 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:16491085 PMID:20554659 PMID:21733724 PMID:25741868 PMID:28492532 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 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 PMID:23596459 PMID:25741868 PMID:26467025 PMID:28492532 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:15048894 PMID:18414213 PMID:18479388 PMID:19702560 PMID:20956790 PMID:22029951 PMID:22581653 PMID:22591750 PMID:23550958 PMID:23849776 PMID:23934111 PMID:23935176 PMID:24579881 PMID:25326635 PMID:25326637 PMID:25741868 PMID:25772804 PMID:25818041 PMID:25937001 PMID:26467025 PMID:26645390 PMID:26648591 PMID:26993267 PMID:27159988 PMID:27328862 PMID:27781031 PMID:27824329 PMID:27867041 PMID:28065826 PMID:28087622 PMID:28379373 PMID:28492532 PMID:28628100 PMID:28708303 PMID:29186148 PMID:32860008 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 PMID:21880868 PMID:25741868 PMID:28492532 NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,153...54,906,856
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 CCDC120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:43,128,938...43,146,777
Ensembl chr  X:43,129,062...43,146,770
JBrowse link
G ERAS ES cell expressed Ras ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:42,942,033...42,946,715 JBrowse link
G GATA1 GATA binding protein 1 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm 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 PMID:28492532 NCBI chr  X:42,877,034...42,889,285
Ensembl chr  X:42,877,140...42,889,271
JBrowse link
G GRIPAP1 GRIP1 associated protein 1 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm 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 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 PMID:28492532 NCBI chr  X:43,032,355...43,043,310
Ensembl chr  X:43,032,357...43,041,760
JBrowse link
G OTUD5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm 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 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 PMID:28492532 NCBI chr  X:42,993,547...42,998,575
Ensembl chr  X:42,993,551...42,998,576
JBrowse link
G PQBP1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm 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 PMID:28492532 NCBI chr  X:43,147,473...43,150,350 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 suppressor of variegation 3-9 homolog 1 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:42,797,309...42,811,457
Ensembl chr  X:42,797,828...42,814,003
JBrowse link
G TFE3 transcription factor binding to IGHM enhancer 3 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm 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 PMID:28492532 NCBI chr  X:42,970,586...42,976,287
Ensembl chr  X:42,970,092...42,976,440
JBrowse link
G WAS WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:42,774,597...42,793,055
Ensembl chr  X:42,774,588...42,793,055
JBrowse link
G WDR45 WD repeat domain 45 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm 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 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
Dravet syndrome 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 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 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 PMID:28235406 PMID:28440294 PMID:28492532 PMID:29264398 NCBI chr15:72,745,706...72,912,352
Ensembl chr15:72,748,692...72,912,407
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:28492532 NCBI chr 4:97,533,643...97,620,816
Ensembl chr 4:97,525,151...97,620,789
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: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr17:62,729,995...62,732,060
Ensembl chr17:62,730,062...62,731,474
JBrowse link
G AK1 adenylate kinase 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 1:268,355,032...268,365,659
Ensembl chr 1:268,355,032...268,365,598
JBrowse link
G ARFRP1 ADP ribosylation factor related protein 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 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: Early infantile epileptic encephalopathy ClinVar PMID:23647072 PMID:25741868 PMID:28492532 NCBI chr12:53,495,409...53,506,373
Ensembl chr12:53,495,453...53,506,352
JBrowse link
G BBLN bublin coiled coil protein ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 1:268,616,040...268,619,638 JBrowse link
G CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18487195 PMID:23339110 PMID:24358150 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30410802 NCBI chr13:32,845,110...32,988,851
Ensembl chr13:32,845,115...32,988,774
JBrowse link
G CDHR5 cadherin related family member 5 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:376,449...382,713
Ensembl chr 2:375,726...382,704
JBrowse link
G CDK9 cyclin dependent kinase 9 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 1:268,277,083...268,280,493
Ensembl chr 1:268,275,891...268,281,057
JBrowse link
G CEND1 cell cycle exit and neuronal differentiation 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:487,817...490,704
Ensembl chr 2:487,821...490,699
JBrowse link
G CERCAM cerebral endothelial cell adhesion molecule ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 1:268,834,967...268,847,236
Ensembl chr 1:268,830,049...268,847,230
JBrowse link
G CFAP157 cilia and flagella associated protein 157 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 1:268,209,190...268,213,909
Ensembl chr 1:268,209,396...268,213,921
JBrowse link
G CHRNA4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr17:62,424,672...62,436,646
Ensembl chr17:62,420,546...62,436,165
JBrowse link
G CIZ1 CDKN1A interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 1:268,618,972...268,642,064
Ensembl chr 1:268,617,087...268,642,058
JBrowse link
G COQ4 coenzyme Q4 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 1:268,756,690...268,768,355
Ensembl chr 1:268,756,722...268,768,343
JBrowse link
G CSRNP3 cysteine and serine rich nuclear protein 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28492532 NCBI chr15:72,040,854...72,242,269
Ensembl chr15:72,040,851...72,236,464
JBrowse link
G DEAF1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:404,514...427,584
Ensembl chr 2:404,532...427,542
JBrowse link
G DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr17:62,754,630...62,780,470
Ensembl chr17:62,773,940...62,777,311
JBrowse link
G DNM1 dynamin 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 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: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 1:268,420,273...268,423,557
Ensembl chr 1:268,418,444...268,423,552
JBrowse link
G DRD4 dopamine receptor D4 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:398,766...401,539
Ensembl chr 2:398,766...401,432
JBrowse link
G EEF1A2 eukaryotic translation elongation factor 1 alpha 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr17:62,517,811...62,526,379
Ensembl chr17:62,517,503...62,526,384
JBrowse link
G ENG endoglin ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 1:268,309,379...268,343,861
Ensembl chr 1:268,306,120...268,343,827
JBrowse link
G EPS8L2 EPS8 like 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:435,257...452,630
Ensembl chr 2:433,649...452,630
JBrowse link
G FNDC11 fibronectin type III domain containing 11 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr17:62,558,294...62,559,961
Ensembl chr17:62,556,867...62,560,616
JBrowse link
G FPGS folylpolyglutamate synthase ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 1:268,281,298...268,309,397
Ensembl chr 1:268,287,729...268,309,411
JBrowse link
G GABRA2 gamma-aminobutyric acid type A receptor subunit alpha2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:29422393 NCBI chr 8:36,344,633...36,474,840
Ensembl chr 8:36,347,023...36,502,460
JBrowse link
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28492532 NCBI chr15:72,276,502...72,343,524
Ensembl chr15:72,293,614...72,342,435
JBrowse link
G GATD1 glutamine amidotransferase like class 1 domain containing 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:472,766...484,609
Ensembl chr 2:474,296...480,736
JBrowse link
G GLE1 GLE1 RNA export mediator ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 1:268,894,281...268,922,752
Ensembl chr 1:268,894,276...268,922,742
JBrowse link
G GMEB2 glucocorticoid modulatory element binding protein 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr17:62,568,546...62,595,880
Ensembl chr17:62,568,547...62,584,822
JBrowse link
G GNAO1 G protein subunit alpha o1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:23993195 PMID:25741868 PMID:25966631 PMID:26060304 PMID:26467025 PMID:26485252 PMID:27068059 PMID:27072799 PMID:27625011 PMID:27864847 PMID:28202424 PMID:28357411 PMID:28492532 PMID:28688840 PMID:28747448 PMID:28817111 PMID:29390993 PMID:32581362 NCBI chr 6:29,416,574...29,592,874
Ensembl chr 6:29,416,708...29,592,516
JBrowse link
G GOLGA2 golgin A2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 1:268,702,823...268,721,174 JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:25741868 PMID:31422819 NCBI chr 6:20,407,203...20,431,849
Ensembl chr 6:20,407,198...20,432,068
JBrowse link
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:20437590 PMID:22131395 PMID:24747641 PMID:25678871 PMID:25741868 PMID:26073591 PMID:26467025 PMID:28488083 PMID:28492532 NCBI chr16:29,439,294...29,808,855
Ensembl chr16:29,439,263...29,809,748
JBrowse link
G HELZ2 helicase with zinc finger 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 6:59,916,378...59,932,537
Ensembl chr 6:59,919,847...59,931,735
JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501
JBrowse link
G IRF7 interferon regulatory factor 7 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:372,235...375,572
Ensembl chr 2:371,606...375,381
JBrowse link
G KCNB1 potassium voltage-gated channel subfamily B member 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy
ClinVar Annotator: match by term: developmental encephalopathy with epilepsy
ClinVar PMID:25741868 PMID:26477325 PMID:28252636 PMID:28492532 PMID:28806457 PMID:29264397 PMID:32581362 NCBI chr17:51,032,163...51,152,566
Ensembl chr17:51,039,956...51,144,696
JBrowse link
G KCNH5 potassium voltage-gated channel subfamily H member 5 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:23647072 PMID:24133262 PMID:25741868 PMID:28492532 NCBI chr 1:194,965,696...195,264,046
Ensembl chr 1:194,965,730...195,262,047
JBrowse link
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar Annotator: match by term: Ohtahara syndrome
ClinVar PMID:3360469 PMID:9425895 PMID:9872318 PMID:10482260 PMID:11175290 PMID:11572947 PMID:11690625 PMID:11784811 PMID:12742592 PMID:12754513 PMID:14534157 PMID:14985406 PMID:15596469 PMID:16039833 PMID:16597729 PMID:16916607 PMID:17475800 PMID:17872363 PMID:18353052 PMID:18414213 PMID:18483067 PMID:18515377 PMID:19344764 PMID:19380078 PMID:19453707 PMID:19559753 PMID:19822871 PMID:20119593 PMID:21685056 PMID:21937445 PMID:22013194 PMID:22169383 PMID:22275249 PMID:22455920 PMID:22926866 PMID:23360469 PMID:23440208 PMID:23621294 PMID:23692823 PMID:23708187 PMID:23934111 PMID:24107868 PMID:24318194 PMID:24371303 PMID:24375629 PMID:24463883 PMID:24586341 PMID:24759409 PMID:24811917 PMID:24904429 PMID:25052858 PMID:25262651 PMID:25326635 PMID:25473036 PMID:25533962 PMID:25590979 PMID:25740509 PMID:25741868 PMID:25818041 PMID:25880994 PMID:25951140 PMID:25959266 PMID:25982755 PMID:26007637 PMID:26073431 PMID:26138355 PMID:26148514 PMID:26446091 PMID:26467025 PMID:26544041 PMID:26704558 PMID:26758118 PMID:26993267 PMID:27334371 PMID:27466704 PMID:27535030 PMID:27602407 PMID:27779742 PMID:27781031 PMID:27861786 PMID:27864847 PMID:27888506 PMID:28133863 PMID:28139826 PMID:28283543 PMID:28399683 PMID:28420012 PMID:28492532 PMID:28602030 PMID:28687180 PMID:28717674 PMID:28867141 PMID:28926830 PMID:28973083 PMID:29056246 PMID:29186148 PMID:29190809 PMID:29215089 PMID:29263209 PMID:29314763 PMID:29390993 PMID:29429461 PMID:29644095 PMID:29655203 PMID:29720203 PMID:29933521 PMID:30109124 PMID:30126342 PMID:30174244 PMID:30185235 PMID:30478917 PMID:31152295 PMID:31199083 PMID:32488064 PMID:32581362 PMID:32860008 NCBI chr17:62,459,277...62,506,403
Ensembl chr17:62,459,279...62,506,425
JBrowse link
G LCN2 lipocalin 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 1:268,609,975...268,614,651 JBrowse link
G LIME1 Lck interacting transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr17:62,652,618...62,655,342 JBrowse link
G LMNTD2 lamin tail domain containing 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:323,642...329,782
Ensembl chr 2:323,647...329,660
JBrowse link
G LOC100515171 sodium channel protein type 2 subunit alpha ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28492532 NCBI chr15:71,864,753...71,999,219
Ensembl chr15:71,864,739...71,999,212
JBrowse link
G LOC100517372 cytochrome b561 domain-containing protein 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18487195 PMID:23339110 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr13:32,834,206...32,837,007
Ensembl chr13:32,825,597...32,837,002
JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:303,836...323,701
Ensembl chr 2:304,429...323,700
JBrowse link
G MIR199B microRNA mir-199b ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 1:268,691,520...268,691,593
Ensembl chr 1:268,691,502...268,691,610
JBrowse link
G MIR219B microRNA mir-219b ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 1:268,816,967...268,817,050
Ensembl chr 1:268,816,961...268,817,057
JBrowse link
G NAIF1 nuclear apoptosis inducing factor 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 1:268,522,131...268,531,528 JBrowse link
G ODF2 outer dense fiber of sperm tails 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 1:268,856,755...268,893,390
Ensembl chr 1:268,856,768...268,893,387
JBrowse link
G PHRF1 PHD and ring finger domains 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:340,536...371,699
Ensembl chr 2:340,516...371,693
JBrowse link
G PIGP phosphatidylinositol glycan anchor biosynthesis class P ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28334793 PMID:31139695 PMID:32042915 NCBI chr13:200,686,716...200,695,537 JBrowse link
G PIP5KL1 phosphatidylinositol-4-phosphate 5-kinase like 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 1:268,409,113...268,417,580
Ensembl chr 1:268,408,032...268,421,829
JBrowse link
G PPDPF pancreatic progenitor cell differentiation and proliferation factor ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr17:62,537,510...62,539,012 JBrowse link
G PTGES2 prostaglandin E synthase 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 1:268,585,725...268,591,356
Ensembl chr 1:268,583,439...268,590,855
JBrowse link
G PTK6 protein tyrosine kinase 6 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr17:62,538,853...62,547,866
Ensembl chr17:62,538,855...62,546,730
JBrowse link
G PTRH1 peptidyl-tRNA hydrolase 1 homolog ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 1:268,213,685...268,215,498
Ensembl chr 1:268,213,687...268,215,523
JBrowse link
G RASSF7 Ras association domain family member 7 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:329,830...332,505
Ensembl chr 2:329,711...332,522
JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr17:62,611,844...62,636,628 JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar Annotator: match by term: Ohtahara syndrome
ClinVar PMID:1868258 PMID:1893099 PMID:9126059 PMID:10486327 PMID:10521305 PMID:10742094 PMID:11118488 PMID:11254444 PMID:11254445 PMID:11359211 PMID:11567038 PMID:11940708 PMID:12083760 PMID:12086636 PMID:12535936 PMID:12566275 PMID:12576172 PMID:12610651 PMID:12754708 PMID:12821740 PMID:12919402 PMID:14504318 PMID:14672992 PMID:14702334 PMID:14738421 PMID:15087100 PMID:15277629 PMID:15508916 PMID:15694566 PMID:16075041 PMID:16210358 PMID:16458823 PMID:16541393 PMID:16713913 PMID:16713920 PMID:16865694 PMID:17054684 PMID:17054685 PMID:17129991 PMID:17166794 PMID:17347258 PMID:17537961 PMID:17561957 PMID:17679682 PMID:17903680 PMID:18021921 PMID:18056581 PMID:18076640 PMID:18330841 PMID:18413471 PMID:18414213 PMID:18479393 PMID:18554359 PMID:18804930 PMID:18930999 PMID:19200853 PMID:19236456 PMID:19303743 PMID:19359143 PMID:19400878 PMID:19522081 PMID:19563349 PMID:19585586 PMID:19589774 PMID:19763161 PMID:19782004 PMID:20100831 PMID:20110217 PMID:20117752 PMID:20431604 PMID:20452746 PMID:20522430 PMID:20550552 PMID:20562086 PMID:20600615 PMID:20729507 PMID:20738378 PMID:20831750 PMID:20879882 PMID:21248271 PMID:21371021 PMID:21396429 PMID:21416599 PMID:21425109 PMID:21692795 PMID:21703448 PMID:21713554 PMID:21719429 PMID:21844054 PMID:21864321 PMID:21868258 PMID:21906962 PMID:22011963 PMID:22050978 PMID:22071555 PMID:22092154 PMID:22140375 PMID:22147323 PMID:22150645 PMID:22151702 PMID:22409937 PMID:22550089 PMID:22612257 PMID:22780858 PMID:22848613 PMID:23016767 PMID:23086956 PMID:23103419 PMID:23184456 PMID:23195492 PMID:23398550 PMID:23398611 PMID:23527921 PMID:23662938 PMID:23708187 PMID:23762420 PMID:23808377 PMID:23821540 PMID:23884151 PMID:23895530 PMID:23934111 PMID:24097157 PMID:24136861 PMID:24155976 PMID:24168886 PMID:24277604 PMID:24328833 PMID:24337656 PMID:24472396 PMID:24502503 PMID:24623842 PMID:24656210 PMID:24679980 PMID:25243660 PMID:25326635 PMID:25348405 PMID:25378155 PMID:25401298 PMID:25459968 PMID:25459969 PMID:25524840 PMID:25576396 PMID:25669891 PMID:25741868 PMID:25818041 PMID:25885068 PMID:26068938 PMID:26096185 PMID:26169758 PMID:26188943 PMID:26252084 PMID:26339958 PMID:26467025 PMID:26544041 PMID:26633542 PMID:26699486 PMID:26845707 PMID:26990884 PMID:26993267 PMID:27029629 PMID:27066544 PMID:27113213 PMID:27197941 PMID:27231140 PMID:27236449 PMID:27267376 PMID:27465585 PMID:27652284 PMID:27781031 PMID:27864847 PMID:28012175 PMID:28074849 PMID:28079314 PMID:28084635 PMID:28102150 PMID:28148630 PMID:28150151 PMID:28192756 PMID:28202706 PMID:28387369 PMID:28492532 PMID:28544625 PMID:28708303 PMID:28794249 PMID:28842445 PMID:28951233 PMID:29056246 PMID:29100083 PMID:29141279 PMID:29142202 PMID:29186148 PMID:29314583 PMID:29358611 PMID:29408779 PMID:29460957 PMID:29655203 PMID:29760947 PMID:29852413 PMID:30146492 PMID:30182498 PMID:30321769 PMID:30525188 PMID:30558019 PMID:30619928 PMID:30659983 PMID:30977726 PMID:31001185 PMID:31009440 PMID:31791873 PMID:32238909 PMID:32581362 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: Early infantile epileptic encephalopathy ClinVar PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28492532 NCBI chr15:71,717,330...71,824,190
Ensembl chr15:71,717,334...71,824,160
JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:12374766 PMID:15525788 PMID:15800189 PMID:17881658 PMID:18414213 PMID:19465131 PMID:20869590 PMID:22365152 PMID:23020937 PMID:24874546 PMID:24888894 PMID:25046240 PMID:25227913 PMID:25239001 PMID:25326635 PMID:25326637 PMID:25568300 PMID:25741868 PMID:25785782 PMID:25849321 PMID:25951352 PMID:26029160 PMID:26220391 PMID:26235739 PMID:26297079 PMID:26467025 PMID:26647175 PMID:26900580 PMID:26993267 PMID:27210545 PMID:27779742 PMID:27781031 PMID:27864847 PMID:27875746 PMID:27900360 PMID:28387369 PMID:28492532 PMID:28676574 PMID:28702509 PMID:28735751 PMID:28923014 PMID:29100083 PMID:29121005 PMID:29186148 PMID:29432985 PMID:29588952 PMID:29655203 PMID:29720203 PMID:30109124 PMID:30171078 PMID:30615093 NCBI chr 5:16,977,468...17,173,831
Ensembl chr 5:16,977,700...17,169,564
JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28202706 PMID:28492532 NCBI chr15:72,745,706...72,912,352
Ensembl chr15:72,748,692...72,912,407
JBrowse link
G SCT secretin ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:382,783...385,082
Ensembl chr 2:383,799...384,642
JBrowse link
G SH2D3C SH2 domain containing 3C ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 1:268,238,967...268,270,395
Ensembl chr 1:268,237,679...268,270,361
JBrowse link
G SLC25A22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar Annotator: match by term: Ohtahara syndrome
ClinVar PMID:18414213 PMID:25741868 PMID:26467025 PMID:27843123 PMID:28255779 PMID:28492532 NCBI chr 2:491,288...498,773
Ensembl chr 2:491,299...498,769
JBrowse link
G SLC25A25 solute carrier family 25 member 25 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 1:268,531,752...268,575,195
Ensembl chr 1:268,531,752...268,576,996
JBrowse link
G SLC27A4 solute carrier family 27 member 4 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 1:268,773,792...268,788,208
Ensembl chr 1:268,756,680...268,788,791
JBrowse link
G SLC2A4RG SLC2A4 regulator ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr17:62,655,992...62,659,620
Ensembl chr17:62,653,032...62,659,617
JBrowse link
G SPTAN1 spectrin alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18414213 PMID:18469812 PMID:22258530 PMID:25224718 PMID:25741868 PMID:26467025 PMID:26539891 PMID:26704558 PMID:26865513 PMID:28199897 PMID:28492532 PMID:29264391 PMID:29358611 PMID:29655203 NCBI chr 1:268,936,120...269,002,261
Ensembl chr 1:268,936,025...269,002,261
JBrowse link
G SRMS src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr17:62,549,025...62,555,904
Ensembl chr17:62,549,183...62,557,988
JBrowse link
G ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18414213 PMID:23252400 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 6:167,363,348...167,596,892
Ensembl chr 6:167,363,355...167,595,871
JBrowse link
G ST6GALNAC4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 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: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 1:268,371,569...268,383,559 JBrowse link
G STMN3 stathmin 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr17:62,600,450...62,609,851
Ensembl chr17:62,551,171...62,608,843
JBrowse link
G STXBP1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18414213 PMID:18469812 PMID:19557857 PMID:20876469 PMID:20887364 PMID:21762454 PMID:21770924 PMID:22211739 PMID:22495311 PMID:22722545 PMID:23409955 PMID:23662938 PMID:23708187 PMID:23757202 PMID:23934111 PMID:24033266 PMID:24189369 PMID:24315539 PMID:24623842 PMID:24781210 PMID:25008876 PMID:25131622 PMID:25356970 PMID:25418441 PMID:25497044 PMID:25556537 PMID:25693842 PMID:25714420 PMID:25741868 PMID:26384463 PMID:26467025 PMID:26514728 PMID:26544041 PMID:26633542 PMID:26648591 PMID:26795593 PMID:26865513 PMID:26918652 PMID:26993267 PMID:27069701 PMID:27171548 PMID:27184330 PMID:27779742 PMID:28133863 PMID:28387360 PMID:28387369 PMID:28492532 PMID:28628100 PMID:28947817 PMID:29186148 PMID:29264391 PMID:29314583 PMID:29896790 PMID:30109124 PMID:31255830 PMID:31474318 PMID:32238909 PMID:32581362 NCBI chr 1:268,116,124...268,205,805
Ensembl chr 1:268,116,118...268,213,921
JBrowse link
G SWI5 SWI5 homologous recombination repair protein ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 1:268,720,232...268,726,527
Ensembl chr 1:268,719,554...268,726,527
JBrowse link
G TALDO1 transaldolase 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:464,781...472,836
Ensembl chr 2:435,125...473,744
JBrowse link
G TMEM80 transmembrane protein 80 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:428,297...433,533
Ensembl chr 2:428,295...433,533
JBrowse link
G TNFRSF6B TNF receptor superfamily member 6b ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr17:62,635,024...62,637,520 JBrowse link
G TOR2A torsin family 2 member A ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 1:268,233,103...268,237,478
Ensembl chr 1:268,233,110...268,237,459
JBrowse link
G TPD52L2 TPD52 like 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr17:62,733,555...62,750,566
Ensembl chr17:62,733,593...62,750,557
JBrowse link
G TRUB2 TruB pseudouridine synthase family member 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 1:268,745,815...268,757,771
Ensembl chr 1:268,746,329...268,757,494
JBrowse link
G TTC16 tetratricopeptide repeat domain 16 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 1:268,215,559...268,233,175
Ensembl chr 1:268,215,993...268,233,171
JBrowse link
G TTC21B tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28492532 NCBI chr15:72,430,250...72,512,503
Ensembl chr15:72,430,725...72,512,491
JBrowse link
G UBA5 ubiquitin like modifier activating enzyme 5 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24033266 PMID:25741868 PMID:27545674 PMID:27545681 PMID:27926783 PMID:28492532 PMID:28965491 PMID:29286531 NCBI chr13:73,831,485...73,859,781
Ensembl chr13:73,822,920...73,868,375
JBrowse link
G URM1 ubiquitin related modifier 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 1:268,798,439...268,815,553
Ensembl chr 1:268,798,462...268,815,166
JBrowse link
G ZBTB46 zinc finger and BTB domain containing 46 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 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: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr17:62,640,988...62,652,478
Ensembl chr17:62,635,018...62,655,865
JBrowse link
early infantile epileptic encephalopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 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 CACNA1A calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr 2:65,491,784...65,871,068 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 PMID:26467025 PMID:27259978 PMID:27281533 PMID:28301460 PMID:28492532 PMID:29358611 NCBI chr 3:39,585,597...39,603,088
Ensembl chr 3:39,585,602...39,603,083
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 PMID:25477152 PMID:25741868 PMID:25751627 PMID:27733563 PMID:28492532 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:25741868 PMID:26467025 PMID:28492532 PMID:29358611 PMID:29390993 NCBI chr 6:8,468,736...8,910,012
Ensembl chr 6:8,468,112...8,485,223
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 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 SCN1A sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 PMID:28492532 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:10574461 PMID:16855591 PMID:18414213 PMID:20727515 PMID:22277662 PMID:23184456 PMID:23526554 PMID:23806086 PMID:24033266 PMID:24088043 PMID:24291220 PMID:24387994 PMID:24848745 PMID:25169651 PMID:25557349 PMID:25719194 PMID:25741868 PMID:25769375 PMID:26207815 PMID:26371875 PMID:26467025 PMID:26668325 PMID:27259978 PMID:27281533 PMID:27502353 PMID:27541164 PMID:28072960 PMID:28292732 PMID:28301460 PMID:28428906 PMID:28492532 PMID:28663785 PMID:29100083 PMID:29358611 PMID:29671961 PMID:30108545 PMID:30180405 PMID:30311386 PMID:30335140 PMID:31112829 PMID:31257402 NCBI chr 3:39,545,688...39,572,320 JBrowse link
G WWOX WW domain containing oxidoreductase ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar Annotator: match by term: OHTAHARA SYNDROME, X-LINKED
ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome
ClinVar PMID:11572989 PMID:20480411 PMID:21983861 PMID:24082139 PMID:24456803 PMID:25403906 PMID:25411445 PMID:25558065 PMID:25612104 PMID:25741868 PMID:26467025 PMID:27495153 PMID:27569545 PMID:27717089 PMID:27884173 PMID:28492532 PMID:29358611 PMID:29390993 PMID:29675105 PMID:29852413 PMID:29905011 NCBI chr 6:8,910,209...9,871,048
Ensembl chr 6:8,911,139...9,871,102
JBrowse link
early infantile epileptic encephalopathy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
early infantile 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 PMID:10446192 PMID:11112660 PMID:15381417 PMID:18414213 PMID:20118933 PMID:22508754 PMID:23224214 PMID:23708187 PMID:24033266 PMID:25558065 PMID:25728773 PMID:25741868 PMID:26467025 PMID:26993267 PMID:27066567 PMID:27066586 PMID:27232581 PMID:28492532 PMID:29056246 PMID:29261713 PMID:29498415 PMID:29655203 PMID:29720203 PMID:29924869 PMID:30039206 PMID:31061747 NCBI chr 6:54,870,359...54,880,814
Ensembl chr 6:54,870,361...54,880,807
JBrowse link
early infantile 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
early infantile epileptic encephalopathy 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAMSAP1 calmodulin regulated spectrin associated protein 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:28492532
G CARD9 caspase recruitment domain family member 9 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:28492532
G DNLZ DNL-type zinc finger ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:28492532
G ENTR1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:28492532
G GPSM1 G protein signaling modulator 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:28492532
G INPP5E inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:28492532
G KCNT1 potassium sodium-activated channel subfamily T member 1 ISO OMIM
G LHX3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar 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 NACC2 NACC family member 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:28492532
G NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:28492532
G PMPCA peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:28492532
G QSOX2 quiescin sulfhydryl oxidase 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:28492532
G SEC16A SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:28492532
G SNAPC4 small nuclear RNA activating complex polypeptide 4 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:28492532
G TMEM250 transmembrane protein 250 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:28492532
G UBAC1 UBA domain containing 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:28492532
early infantile 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
early infantile 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
early infantile 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
early infantile 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
early infantile 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
early infantile epileptic encephalopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 PMID:23828526 PMID:25315662 PMID:28492532 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 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 PMID:23828526 PMID:25315662 PMID:28492532 NCBI chr  X:13,854,950...14,209,085
Ensembl chr  X:13,855,340...14,209,664
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 PMID:23828526 PMID:25315662 PMID:28492532 NCBI chr  X:14,246,776...14,633,071
Ensembl chr  X:14,244,279...14,309,143
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:15499549 PMID:16813600 PMID:18076117 PMID:18414213 PMID:18564362 PMID:19241098 PMID:19428276 PMID:19780792 PMID:20479760 PMID:20493745 PMID:21160487 PMID:21770923 PMID:21775177 PMID:21802232 PMID:22867051 PMID:23184456 PMID:23242510 PMID:23828526 PMID:25315662 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29264392 PMID:29655203 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 PMID:23828526 PMID:25315662 PMID:28492532 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 PMID:23828526 PMID:25315662 PMID:28492532 NCBI chr  X:14,715,357...14,823,016
Ensembl chr  X:14,717,605...14,823,413
JBrowse link
early infantile epileptic encephalopathy 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 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 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 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 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
early infantile epileptic encephalopathy 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
early infantile 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
early infantile epileptic encephalopathy 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIPL1 aryl hydrocarbon receptor interacting protein like 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr12:50,903,358...50,917,187
Ensembl chr12:50,903,438...50,920,437
JBrowse link
G C12H17orf100 chromosome 12 C17orf100 homolog ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr12:50,644,783...50,728,768 JBrowse link
G KIAA0753 KIAA0753 ortholog ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar 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:28492532 NCBI chr12:50,728,681...50,734,469
Ensembl chr12:50,728,676...50,736,075
JBrowse link
G PIMREG PICALM interacting mitotic regulator ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar 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:28492532 NCBI chr12:50,806,302...50,898,316
Ensembl chr12:50,728,910...50,898,336
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 TXNDC17 thioredoxin domain containing 17 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr12:50,734,669...50,737,309
Ensembl chr12:50,734,619...50,737,309
JBrowse link
early infantile 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 ISO OMIM 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
early infantile 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:28492532 NCBI chr15:3,649,859...4,096,459
Ensembl chr15:3,659,015...4,096,248
JBrowse link
early infantile epileptic encephalopathy 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
early infantile 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
early infantile 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
early infantile 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 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 GATD3A glutamine amidotransferase like class 1 domain containing 3A 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 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 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 SIK1 salt inducible kinase 1 ISO OMIM NCBI chr13:206,454,695...206,465,802 JBrowse link
G TRAPPC10 trafficking protein particle complex 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
early infantile epileptic encephalopathy 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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:19084268 PMID:23977156 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28667181 PMID:29668686 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 MIR199B microRNA mir-199b ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:28492532 NCBI chr 1:268,691,520...268,691,593
Ensembl chr 1:268,691,502...268,691,610
JBrowse link
early infantile 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
early infantile epileptic encephalopathy 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 KCNQ2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 ClinVar PMID:27441201 PMID:28492532 NCBI chr17:62,459,277...62,506,403
Ensembl chr17:62,459,279...62,506,425
JBrowse link
G PPDPF pancreatic progenitor cell differentiation and proliferation factor ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 ClinVar PMID:28492532 NCBI chr17:62,537,510...62,539,012 JBrowse link
early infantile 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
early infantile 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
early infantile 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
early infantile epileptic encephalopathy 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
early infantile 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
early infantile 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
early infantile 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
early infantile 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
early infantile 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
early infantile 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
G DPYD dihydropyrimidine dehydrogenase ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42 ClinVar PMID:25741868 NCBI chr 4:119,931,471...120,712,461
Ensembl chr 4:119,931,458...120,712,462
JBrowse link
early infantile 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
early infantile epileptic encephalopathy 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
early infantile 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
early infantile 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
early infantile 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
early infantile 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
early infantile 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
early infantile 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
early infantile 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
early infantile 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
early infantile 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
early infantile 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
early infantile 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
early infantile 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
early infantile 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
early infantile 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
early infantile 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
early infantile 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
early infantile 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
early infantile 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
early infantile 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
early infantile 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
early infantile 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
early infantile epileptic encephalopathy 66 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PACS2 phosphofurin acidic cluster sorting protein 2 ISO OMIM
early infantile 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: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
early infantile 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
early infantile 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
early infantile epileptic encephalopathy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PCDH19 protocadherin 19 ISO OMIM NCBI chr  X:82,031,365...82,153,159
Ensembl chr  X:82,036,165...82,151,453
JBrowse link
G SRPX2 sushi repeat containing protein X-linked 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 9 ClinVar PMID:23712037 PMID:27179713 PMID:28492532 PMID:29377098 NCBI chr  X:82,336,741...82,363,868
Ensembl chr  X:82,336,798...82,363,860
JBrowse link
G TNMD tenomodulin ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 9 ClinVar PMID:23712037 PMID:27179713 PMID:28492532 PMID:29377098 NCBI chr  X:82,269,323...82,292,083
Ensembl chr  X:82,269,239...82,292,248
JBrowse link
G TSPAN6 tetraspanin 6 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 9 ClinVar PMID:23712037 PMID:27179713 PMID:28492532 PMID:29377098 NCBI chr  X:82,323,634...82,328,919
Ensembl chr  X:82,323,624...82,328,903
JBrowse link
Early Infantile 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
Early Infantile 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
Early Infantile 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
Early Infantile 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
Early Infantile 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 PMID:23033978 PMID:30256902 NCBI chr 7:9,685,273...9,708,781
Ensembl chr 7:9,685,259...9,708,781
JBrowse link
Early Infantile 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
Early Infantile 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
Early Infantile 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
Early Infantile 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
Early Infantile 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
Early Infantile Epileptic Encephalopathy, 76 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTL6B actin like 6B ISO OMIM NCBI chr 3:8,554,322...8,568,774
Ensembl chr 3:8,539,318...8,578,884
JBrowse link
Early Infantile 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
Early Infantile 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
Early Infantile 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
Early Infantile 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 PMID:17343268 PMID:31256876 NCBI chr 1:116,519,834...116,522,515 JBrowse link
Early Infantile 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
Early Infantile 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
Early Infantile 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
Early Infantile 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
Early Infantile 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
Early Infantile 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
Early Infantile 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
early myoclonic encephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G JMJD1C jumonji domain containing 1C ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy
ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
ClinVar PMID:22495311 PMID:26181491 PMID:28492532 NCBI chr14:66,640,845...66,966,911
Ensembl chr14:66,640,849...66,967,077
JBrowse link
G KCND2 potassium voltage-gated channel subfamily D member 2 ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy ClinVar PMID:24501278 PMID:28492532 PMID:29581270 NCBI chr18:26,139,457...26,624,210
Ensembl chr18:26,141,506...26,623,034
JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
ClinVar Annotator: match by term: Early myoclonic encephalopathy
ClinVar PMID:10521305 PMID:10742094 PMID:11254444 PMID:11254445 PMID:11359211 PMID:11567038 PMID:12086636 PMID:12610651 PMID:12821740 PMID:14702334 PMID:14738421 PMID:16541393 PMID:17054684 PMID:17347258 PMID:17561957 PMID:18021921 PMID:18056581 PMID:18413471 PMID:18414213 PMID:18930999 PMID:19200853 PMID:19236456 PMID:19359143 PMID:19522081 PMID:19589774 PMID:19782004 PMID:20431604 PMID:20522430 PMID:20729507 PMID:20879882 PMID:21396429 PMID:21713554 PMID:21906962 PMID:22150645 PMID:22550089 PMID:22612257 PMID:22780858 PMID:23195492 PMID:23398611 PMID:23884151 PMID:24066114 PMID:24136861 PMID:24168886 PMID:25741868 PMID:26096185 PMID:26467025 PMID:26544041 PMID:26845707 PMID:26990884 PMID:27236449 PMID:27864847 PMID:28192756 PMID:28492532 PMID:29100083 PMID:29358611 PMID:30311386 NCBI chr15:72,529,866...72,696,715
Ensembl chr15:72,529,875...72,678,067
JBrowse link
G SLC25A22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy ClinVar PMID:15592994 PMID:18414213 PMID:19780765 PMID:24596948 PMID:25741868 PMID:26467025 PMID:27843123 PMID:28492532 NCBI chr 2:491,288...498,773
Ensembl chr 2:491,299...498,769
JBrowse link
G TBC1D24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile ClinVar PMID:24033266 PMID:25741868 PMID:25769375 PMID:26371875 PMID:27281533 PMID:28292732 PMID:28428906 PMID:28492532 NCBI chr 3:39,545,688...39,572,320 JBrowse link
Familial Infantile Convulsions and Paroxysmal Choreoathetosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MVP major vault protein ISO ClinVar Annotator: match by term: Infantile convulsions and paroxysmal choreoathetosis, familial ClinVar PMID:25741868 NCBI chr 3:18,056,548...18,081,169
Ensembl chr 3:18,052,935...18,081,155
JBrowse link
G PRRT2 proline rich transmembrane protein 2 ISO OMIM NCBI chr 3:18,048,614...18,052,481 JBrowse link
microcephaly, seizures, and developmental delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PNKP polynucleotide kinase 3'-phosphatase ISO OMIM NCBI chr 6:54,870,359...54,880,814
Ensembl chr 6:54,870,361...54,880,807
JBrowse link
multiple congenital anomalies-hypotonia-seizures syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIGA phosphatidylinositol glycan anchor biosynthesis class A ISO OMIM NCBI chr  X:11,871,746...11,886,519
Ensembl chr  X:11,871,746...11,886,440
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12682
    syndrome 6152
      electroclinical syndrome 379
        neonatal period electroclinical syndrome 257
          benign familial neonatal epilepsy + 8
          benign neonatal seizures + 11
          early infantile epileptic encephalopathy + 248
          early myoclonic encephalopathy + 5
Path 2
Term Annotations click to browse term
  disease 12682
    disease of anatomical entity 12220
      nervous system disease 9962
        central nervous system disease 8410
          brain disease 7763
            epilepsy 1433
              electroclinical syndrome 379
                neonatal period electroclinical syndrome 257
                  benign familial neonatal epilepsy + 8
                  benign neonatal seizures + 11
                  early infantile epileptic encephalopathy + 248
                  early myoclonic encephalopathy + 5
paths to the root