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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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



show annotations for term's descendants           Sort by:
 
Autosomal Recessive Infantile Epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnk2 tyrosine kinase, non-receptor, 2 ISO ClinVar Annotator: match by term: Autosomal recessive infantile epilepsy ClinVar PMID:23686771 PMID:25741868 PMID:26595808 NCBI chr11:68,114,725...68,154,254
Ensembl chr11:68,114,726...68,154,009
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 ClinVar Annotator: match by term: Seizures, benign familial infantile, 2
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:9579893 PMID:11179027 PMID:12953268 PMID:22101681 PMID:22120146 More... NCBI chr 1:181,625,243...181,628,905
Ensembl chr 1:181,604,545...181,628,850
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 chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544
JBrowse link
G Csrnp3 cysteine and serine rich nuclear protein 3 ISO ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 3:50,498,379...50,695,598
Ensembl chr 3:50,498,633...50,685,950
JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 3:50,742,500...50,779,266
Ensembl chr 3:50,742,512...50,766,268
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Seizures, benign familial infantile, 3
ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3
DNA: missense mutation: exon 16 : p.N1001K
OMIM
ClinVar
RGD
PMID:3508699 PMID:6660252 PMID:9536098 PMID:11326335 PMID:11371648 More... RGD:13207596 NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214
JBrowse link
G Scn3a sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 3:50,146,411...50,258,119
Ensembl chr 3:50,148,139...50,258,119
JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516
JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 3:50,861,367...50,935,782
Ensembl chr 3:50,861,367...50,935,903
JBrowse link
Benign Familial Infantile Seizures, 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 ISO ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 5 ClinVar PMID:23020937 PMID:23934111 PMID:25740509 PMID:25741868 PMID:26350515 More... NCBI chr 7:97,730,219...98,025,652
Ensembl chr 7:97,730,465...98,025,653
JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Seizures, benign familial infantile, 5
ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 5
ClinVar
OMIM
PMID:12374766 PMID:17881658 PMID:18414213 PMID:22365152 PMID:25326635 More... NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292
JBrowse link
benign familial neonatal epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccn4 cellular communication network factor 4 ISO ClinVar Annotator: match by term: Benign familial neonatal seizures ClinVar PMID:28492532 PMID:29383681 PMID:29852413 NCBI chr 7:98,645,238...98,677,253
Ensembl chr 7:98,645,182...98,677,248
JBrowse link
G Csrnp3 cysteine and serine rich nuclear protein 3 ISO ClinVar Annotator: match by term: Benign familial infantile convulsions ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 3:50,498,379...50,695,598
Ensembl chr 3:50,498,633...50,685,950
JBrowse link
G Dnaaf11 dynein axonemal assembly factor 11 ISO ClinVar Annotator: match by term: Benign familial neonatal seizures ClinVar PMID:28492532 PMID:29383681 PMID:29852413 NCBI chr 7:98,141,525...98,245,906
Ensembl chr 7:98,144,763...98,245,837
JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Benign familial infantile convulsions ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 3:50,742,500...50,779,266
Ensembl chr 3:50,742,512...50,766,268
JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Benign familial neonatal seizures ClinVar PMID:18625963 PMID:19464834 NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
JBrowse link
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 ISO ClinVar Annotator: match by term: Benign familial neonatal seizures ClinVar PMID:9425900 PMID:9536098 PMID:14534157 PMID:16199547 PMID:16235065 More... NCBI chr 7:97,730,219...98,025,652
Ensembl chr 7:97,730,465...98,025,653
JBrowse link
G Ndrg1 N-myc downstream regulated 1 ISO ClinVar Annotator: match by term: Benign familial neonatal seizures ClinVar PMID:28492532 PMID:29383681 PMID:29852413 NCBI chr 7:98,684,487...98,725,869
Ensembl chr 7:98,684,487...98,725,880
JBrowse link
G Phf20l1 PHD finger protein 20-like 1 ISO ClinVar Annotator: match by term: Benign familial neonatal seizures ClinVar PMID:28492532 PMID:29383681 PMID:29852413 NCBI chr 7:98,330,580...98,396,526
Ensembl chr 7:98,330,580...98,396,526
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Benign familial infantile convulsions ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Benign familial neonatal-infantile seizures
ClinVar Annotator: match by term: Benign familial infantile convulsions
ClinVar PMID:11738931 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214
JBrowse link
G Scn3a sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Benign familial infantile convulsions ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 3:50,146,411...50,258,119
Ensembl chr 3:50,148,139...50,258,119
JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Benign familial infantile convulsions ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516
JBrowse link
G Sla src-like adaptor ISO ClinVar Annotator: match by term: Benign familial neonatal seizures ClinVar PMID:28492532 PMID:29383681 PMID:29852413 NCBI chr 7:98,534,431...98,584,810
Ensembl chr 7:98,535,368...98,584,648
JBrowse link
G Tg thyroglobulin ISO ClinVar Annotator: match by term: Benign familial neonatal seizures ClinVar PMID:28492532 PMID:29383681 PMID:29852413 NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210
JBrowse link
G Tmem71 transmembrane protein 71 ISO ClinVar Annotator: match by term: Benign familial neonatal seizures ClinVar PMID:28492532 PMID:29383681 PMID:29852413 NCBI chr 7:98,276,975...98,323,161
Ensembl chr 7:98,276,975...98,315,858
JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Benign familial infantile convulsions
ClinVar Annotator: match by term: Benign familial neonatal seizures
ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 3:50,861,367...50,935,782
Ensembl chr 3:50,861,367...50,935,903
JBrowse link
Benign Familial Neonatal Seizures, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Benign familial neonatal seizures 1 ClinVar NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Benign familial neonatal seizures 1
ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1, and/or myokymia
ClinVar Annotator: match by OMIM:121200
OMIM
ClinVar
PMID:2847176 PMID:3360469 PMID:4055306 PMID:7980108 PMID:9425895 More... NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
JBrowse link
Benign Familial Neonatal Seizures, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Benign familial neonatal seizures 2 ClinVar PMID:12742592 PMID:15249611 PMID:17129708 PMID:28492532 PMID:29314763 More... NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
JBrowse link
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 ISO ClinVar Annotator: match by term: Benign familial neonatal seizures 2
ClinVar Annotator: match by term: Autosomal dominant form of benign neonatal seizures
DNA:missense mutation:cds:p.W309R (human)
DNA:missense mutation:cds:p.G263V (human)
ClinVar Annotator: match by OMIM:121201
OMIM
ClinVar
RGD
PMID:1859177 PMID:9425900 PMID:10852552 PMID:14534157 PMID:16235065 More... RGD:9686433, RGD:9686418 NCBI chr 7:97,730,219...98,025,652
Ensembl chr 7:97,730,465...98,025,653
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 chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
JBrowse link
Benign Neonatal Epilepsy, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Benign Neonatal Epilepsy 1 ClinVar PMID:2847176 PMID:3360469 PMID:4055306 PMID:9425895 PMID:9536098 More... NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
JBrowse link
benign neonatal seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh7a1 aldehyde dehydrogenase 7 family, member A1 ISO ClinVar Annotator: match by term: neonatal seizures ClinVar PMID:16199547 PMID:16491085 PMID:20554659 PMID:21733724 PMID:25741868 More... NCBI chr18:50,003,242...50,042,193
Ensembl chr18:50,009,934...50,042,193
JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO RGD PMID:12953268 RGD:1358436 NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544
JBrowse link
G Csrnp3 cysteine and serine rich nuclear protein 3 ISO ClinVar Annotator: match by term: Epilepsy, benign neonatal-infantile ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 3:50,498,379...50,695,598
Ensembl chr 3:50,498,633...50,685,950
JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Epilepsy, benign neonatal-infantile ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 3:50,742,500...50,779,266
Ensembl chr 3:50,742,512...50,766,268
JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19380078 PMID:26910900 NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
JBrowse link
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 ISO
ISS
ClinVar Annotator: match by term: Benign Neonatal Epilepsy
ClinVar Annotator: match by term: Benign familial neonatal seizures
OMIM:121200 | OMIM:121201 | OMIM:269720
ClinVar
MouseDO
PMID:16235065 PMID:17765802 PMID:18625963 PMID:19344764 PMID:21703448 More... NCBI chr 7:97,730,219...98,025,652
Ensembl chr 7:97,730,465...98,025,653
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: neonatal seizures ClinVar PMID:14635118 PMID:16919951 PMID:20185557 PMID:21357833 PMID:21550804 More... NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Epilepsy, benign neonatal-infantile ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Epilepsy, benign neonatal-infantile ClinVar PMID:11738931 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214
JBrowse link
G Scn3a sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Epilepsy, benign neonatal-infantile ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 3:50,146,411...50,258,119
Ensembl chr 3:50,148,139...50,258,119
JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Epilepsy, benign neonatal-infantile ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516
JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Epilepsy, benign neonatal-infantile ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 3:50,861,367...50,935,782
Ensembl chr 3:50,861,367...50,935,903
JBrowse link
congenital disorder of glycosylation type IIm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,868,096...14,896,413
Ensembl chr  X:14,868,024...14,896,413
JBrowse link
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:14,753,594...14,772,745
Ensembl chr  X:14,753,696...14,772,743
JBrowse link
G Ccdc22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,898,296...14,910,244
Ensembl chr  X:14,898,296...14,910,244
JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,185,353...15,339,977
Ensembl chr  X:15,185,451...15,334,264
JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,299,427...14,305,826
Ensembl chr  X:14,299,448...14,305,826
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:14,573,987...14,578,455
Ensembl chr  X:14,573,987...14,578,374
JBrowse link
G Foxp3 forkhead box P3 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838
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:14,529,706...14,537,530
Ensembl chr  X:14,529,702...14,537,530
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:14,473,994...14,488,797
Ensembl chr  X:14,473,994...14,488,683
JBrowse link
G Gpkow G patch domain and KOW motifs ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,791,601...14,806,384
Ensembl chr  X:14,791,610...14,806,384
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:14,678,896...14,708,747
Ensembl chr  X:14,678,898...14,708,679
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:14,550,645...14,572,445
Ensembl chr  X:14,551,044...14,572,441
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:14,661,688...14,678,745
Ensembl chr  X:14,662,357...14,677,233
JBrowse link
G Magix MAGI family member, X-linked ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,824,114...14,832,466
Ensembl chr  X:14,824,188...14,831,045
JBrowse link
G Mir500 microRNA 500 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,258,778...15,258,857
Ensembl chr  X:15,258,768...15,258,859
JBrowse link
G Mir532 microRNA 532 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,247,315...15,247,393
Ensembl chr  X:15,247,315...15,247,393
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:14,626,173...14,659,331
Ensembl chr  X:14,626,164...14,659,573
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:14,580,036...14,583,478
Ensembl chr  X:14,580,038...14,583,566
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:14,617,582...14,622,851
Ensembl chr  X:14,617,582...14,622,851
JBrowse link
G Plp2 proteolipid protein 2 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,834,249...14,837,648
Ensembl chr  X:14,834,231...14,838,514
JBrowse link
G Ppp1r3f protein phosphatase 1, regulatory subunit 3F ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,915,740...14,945,249
Ensembl chr  X:14,929,323...14,945,193
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:14,603,516...14,608,091
Ensembl chr  X:14,603,539...14,608,087
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:14,773,398...14,776,035
Ensembl chr  X:14,773,420...14,775,909
JBrowse link
G Prickle3 prickle planar cell polarity protein 3 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,837,647...14,849,305
Ensembl chr  X:14,837,650...14,848,218
JBrowse link
G Rbm3 RNA binding motif protein 3 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,348,909...14,352,387
Ensembl chr  X:14,348,910...14,353,580
JBrowse link
G Slc35a2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: SLC35A2-CDG
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar Annotator: match by OMIM:300896
OMIM
ClinVar
PMID:23561849 PMID:24115232 PMID:25262651 PMID:25741868 PMID:26350515 More... NCBI chr  X:14,608,145...14,616,937
Ensembl chr  X:14,608,055...14,616,678
JBrowse link
G Suv39h1 SUV39H1 histone lysine methyltransferase ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:141,793,695...141,795,558 JBrowse link
G Syp synaptophysin ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,849,444...14,864,553
Ensembl chr  X:14,849,444...14,864,745
JBrowse link
G Tbc1d25 TBC1 domain family, member 25 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,314,095...14,339,171
Ensembl chr  X:14,314,414...14,338,275
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:14,729,547...14,742,830
Ensembl chr  X:14,729,550...14,742,571
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:14,596,330...14,603,491
Ensembl chr  X:14,594,577...14,603,416
JBrowse link
G Usp27x ubiquitin specific peptidase 27, X-linked ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,123,642...15,126,855
Ensembl chr  X:15,124,596...15,125,912
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:14,405,096...14,413,850
Ensembl chr  X:14,405,124...14,413,849
JBrowse link
G Wdr13 WD repeat domain 13 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,362,479...14,373,727
Ensembl chr  X:14,362,860...14,373,727
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:14,776,280...14,782,197
Ensembl chr  X:14,776,293...14,782,202
JBrowse link
developmental and epileptic encephalopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca3 ATP binding cassette subfamily A member 3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745
JBrowse link
G Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:107,885,039...107,906,264
Ensembl chr  X:107,885,064...107,893,002
JBrowse link
G Arx aristaless related homeobox 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
associated with Mental Retardation, X-Linked;DNA:insertion:cds:c.333_334ins(GCG)7 (human)
ClinVar Annotator: match by OMIM:308350
ClinVar Annotator: match by null
OMIM
ClinVar
RGD
PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:9536098 More... RGD:11565846, RGD:11565838 NCBI chr  X:58,016,233...58,028,149
Ensembl chr  X:58,016,233...58,028,142
JBrowse link
G Bricd5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr10:13,498,726...13,500,259
Ensembl chr10:13,498,381...13,500,259
JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
JBrowse link
G Caskin1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr10:13,512,684...13,533,380
Ensembl chr10:13,513,465...13,533,377
JBrowse link
G Ccnf cyclin F ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 More... NCBI chr10:13,253,073...13,279,140
Ensembl chr10:13,253,380...13,279,101
JBrowse link
G Csnk1e casein kinase 1, epsilon ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar NCBI chr 7:110,983,322...111,006,926
Ensembl chr 7:110,983,318...111,006,794
JBrowse link
G Dnase1l2 deoxyribonuclease 1 like 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr10:13,471,850...13,473,447
Ensembl chr10:13,471,479...13,473,763
JBrowse link
G E4f1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr10:13,471,478...13,495,018
Ensembl chr10:13,474,456...13,485,974
JBrowse link
G Eci1 enoyl-CoA delta isomerase 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr10:13,456,715...13,470,061
Ensembl chr10:13,456,563...13,470,061
JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr 1:108,467,047...108,702,522
Ensembl chr 1:108,296,124...108,698,961
JBrowse link
G Gnao1 G protein subunit alpha o1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr19:11,034,874...11,192,502
Ensembl chr19:11,035,956...11,192,493
JBrowse link
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24747641 NCBI chr 2:49,495,771...49,899,702
Ensembl chr 2:49,495,771...49,899,774
JBrowse link
G Kcna2 potassium voltage-gated channel subfamily A member 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:8663992 PMID:8663993 PMID:15694325 PMID:16002579 PMID:21044565 More... NCBI chr 2:194,704,555...194,718,387
Ensembl chr 2:194,704,639...194,718,400
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 chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
JBrowse link
G Maf MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr19:43,353,867...43,713,162
Ensembl chr19:43,360,342...43,712,365
JBrowse link
G Mlst8 MTOR associated protein, LST8 homolog ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr10:13,498,377...13,504,128
Ensembl chr10:13,498,388...13,504,128
JBrowse link
G Napb NSF attachment protein beta ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar NCBI chr 3:136,132,248...136,179,225
Ensembl chr 3:136,133,428...136,179,345
JBrowse link
G Nrxn2 neurexin 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar NCBI chr 1:203,726,420...203,842,301
Ensembl chr 1:203,735,753...203,842,297
JBrowse link
G Ntn3 netrin 3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr10:13,236,905...13,240,001
Ensembl chr10:13,236,905...13,240,001
JBrowse link
G Pgp phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr10:13,495,232...13,497,858
Ensembl chr10:13,494,291...13,497,858
JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
JBrowse link
G Plcb1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr 3:122,059,968...122,772,896
Ensembl chr 3:122,060,031...122,772,869
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:58,034,617...58,348,612
Ensembl chr  X:58,034,619...58,348,536
JBrowse link
G Rab26 RAB26, member RAS oncogene family ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr10:13,553,395...13,558,063
Ensembl chr10:13,553,395...13,558,030
JBrowse link
G Rnps1 RNA binding protein with serine rich domain 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr10:13,445,516...13,455,858
Ensembl chr10:13,445,653...13,455,858
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:16458823 PMID:20522430 PMID:22151702 PMID:23195492 PMID:23808377 More... NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
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:14,608,145...14,616,937
Ensembl chr  X:14,608,055...14,616,678
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 5:131,470,348...131,670,794
Ensembl chr 5:131,470,348...131,670,810
JBrowse link
G Synj1 synaptojanin 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr11:30,192,629...30,269,277
Ensembl chr11:30,192,629...30,269,220
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 5:131,897,250...131,943,953
Ensembl chr 5:131,897,275...131,943,904
JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1
ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome
ClinVar PMID:9536098 PMID:10574461 PMID:16855591 PMID:17576681 PMID:18414213 More... NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050
JBrowse link
G Tedc2 tubulin epsilon and delta complex 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr10:13,246,032...13,251,196
Ensembl chr10:13,246,037...13,251,124
JBrowse link
G Traf7 TNF receptor associated factor 7 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr10:13,533,570...13,552,290
Ensembl chr10:13,533,570...13,552,203
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
JBrowse link
G Wwox WW domain-containing oxidoreductase ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome
ClinVar PMID:9536098 PMID:11572989 PMID:16199547 PMID:17576681 PMID:20480411 More... NCBI chr19:42,432,141...43,360,278 JBrowse link
developmental and epileptic encephalopathy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csrnp3 cysteine and serine rich nuclear protein 3 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 11 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 3:50,498,379...50,695,598
Ensembl chr 3:50,498,633...50,685,950
JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 11 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 3:50,742,500...50,779,266
Ensembl chr 3:50,742,512...50,766,268
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 11 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 11
ClinVar Annotator: match by OMIM:613721
OMIM
ClinVar
PMID:11326335 PMID:11738931 PMID:15028761 PMID:15048894 PMID:16199547 More... NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214
JBrowse link
G Scn3a sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 11 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 3:50,146,411...50,258,119
Ensembl chr 3:50,148,139...50,258,119
JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 11 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516
JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 11 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 3:50,861,367...50,935,782
Ensembl chr 3:50,861,367...50,935,903
JBrowse link
developmental and epileptic encephalopathy 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plcb1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12
ClinVar Annotator: match by OMIM:613722
OMIM
ClinVar
PMID:9305844 PMID:9536098 PMID:17576681 PMID:18414213 PMID:20833646 More... NCBI chr 3:122,059,968...122,772,896
Ensembl chr 3:122,060,031...122,772,869
JBrowse link
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 ClinVar PMID:9536098 PMID:10446192 PMID:11112660 PMID:15381417 PMID:16199547 More... NCBI chr 1:95,341,465...95,346,921
Ensembl chr 1:95,341,620...95,346,920
JBrowse link
developmental and epileptic encephalopathy 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 13
ClinVar Annotator: match by OMIM:614558
OMIM
ClinVar
PMID:12374766 PMID:15525788 PMID:15800189 PMID:17881658 PMID:18414213 More... NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292
JBrowse link
developmental and epileptic encephalopathy 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca2 ATP binding cassette subfamily A member 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,244,515...8,264,545
Ensembl chr 3:8,244,639...8,264,537
JBrowse link
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:9,416,842...9,428,567
Ensembl chr 3:9,416,843...9,428,371
JBrowse link
G Ajm1 apical junction component 1 homolog ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,394,942...8,401,559
Ensembl chr 3:8,392,889...8,401,321
JBrowse link
G Anapc2 anaphase promoting complex subunit 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,086,434...8,098,182
Ensembl chr 3:8,086,462...8,098,178
JBrowse link
G Arrdc1 arrestin domain containing 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:7,735,002...7,742,195
Ensembl chr 3:7,735,011...7,742,197
JBrowse link
G C8g complement C8 gamma chain ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,320,495...8,323,495
Ensembl chr 3:8,305,920...8,323,495
JBrowse link
G Camsap1 calmodulin regulated spectrin-associated protein 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,746,176...8,806,072
Ensembl chr 3:8,746,176...8,806,072
JBrowse link
G Card9 caspase recruitment domain family, member 9 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:9,171,814...9,180,310
Ensembl chr 3:9,171,815...9,180,237
JBrowse link
G Ccdc183 coiled-coil domain containing 183 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,428,784...8,438,948
Ensembl chr 3:8,428,787...8,437,194
JBrowse link
G Clic3 chloride intracellular channel 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,271,416...8,274,023
Ensembl chr 3:8,272,097...8,274,018
JBrowse link
G Cysrt1 cysteine rich tail 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,054,195...8,057,846
Ensembl chr 3:8,053,482...8,059,721
JBrowse link
G Dipk1b divergent protein kinase domain 1B ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:9,455,914...9,464,169
Ensembl chr 3:9,456,409...9,464,161
JBrowse link
G Dnlz DNL-type zinc finger ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:9,169,948...9,171,881
Ensembl chr 3:9,169,793...9,180,551
JBrowse link
G Dph7 diphthamide biosynthesis 7 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:7,770,385...7,778,994
Ensembl chr 3:7,770,379...7,778,982
JBrowse link
G Dpp7 dipeptidylpeptidase 7 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,165,091...8,169,343
Ensembl chr 3:8,165,091...8,169,355
JBrowse link
G Edf1 endothelial differentiation-related factor 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,377,058...8,381,363
Ensembl chr 3:8,366,613...8,381,363
JBrowse link
G Egfl7 EGF-like-domain, multiple 7 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:9,404,622...9,416,879
Ensembl chr 3:9,407,520...9,416,879
JBrowse link
G Ehmt1 euchromatic histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:7,580,680...7,729,046
Ensembl chr 3:7,580,683...7,729,007
JBrowse link
G Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,213,575...8,219,094
Ensembl chr 3:8,213,663...8,226,866
JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:7,885,277...7,895,517
Ensembl chr 3:7,889,909...7,895,296
JBrowse link
G Entr1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:9,200,967...9,207,688
Ensembl chr 3:9,200,967...9,207,688
JBrowse link
G Fam166a family with sequence similarity 166, member A ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,030,548...8,038,370
Ensembl chr 3:8,033,246...8,037,961
JBrowse link
G Fbxw5 F-box and WD repeat domain containing 5 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,322,543...8,327,092
Ensembl chr 3:8,322,543...8,327,092
JBrowse link
G Fut7 fucosyltransferase 7 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,237,687...8,242,273
Ensembl chr 3:8,239,384...8,242,260
JBrowse link
G Gpsm1 G-protein signaling modulator 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:9,140,816...9,167,828
Ensembl chr 3:9,128,636...9,167,827
JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603
JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450
JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14
ClinVar Annotator: match by OMIM:614959
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18414213 PMID:18479385 PMID:19264732 More... NCBI chr 3:8,682,964...8,736,615
Ensembl chr 3:8,682,113...8,736,667
JBrowse link
G Lcn10 lipocalin 10 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,490,781...8,494,334
Ensembl chr 3:8,490,781...8,494,333
JBrowse link
G Lcn12 lipocalin 12 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,312,404...8,320,206 JBrowse link
G Lcn6 lipocalin 6 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,484,013...8,489,577
Ensembl chr 3:8,484,013...8,489,574
JBrowse link
G Lcn8 lipocalin 8 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,467,934...8,473,691
Ensembl chr 3:8,467,934...8,470,918
JBrowse link
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:9,027,425...9,034,480
JBrowse link
G Lrrc26 leucine rich repeat containing 26 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,102,361...8,103,687
Ensembl chr 3:8,102,361...8,103,687
JBrowse link
G Mamdc4 MAM domain containing 4 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,382,387...8,391,003
Ensembl chr 3:8,382,387...8,391,003
JBrowse link
G Man1b1 mannosidase, alpha, class 1B, member 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,143,877...8,165,007
Ensembl chr 3:8,143,381...8,165,006
JBrowse link
G Mir126b microRNA 126b ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:9,415,087...9,415,159 JBrowse link
G Mrpl41 mitochondrial ribosomal protein L41 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:7,780,658...7,781,576
Ensembl chr 3:7,779,143...7,782,818
JBrowse link
G Nacc2 NACC family member 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,879,952...8,946,660
Ensembl chr 3:8,883,065...8,946,660
JBrowse link
G Ndor1 NADPH dependent diflavin oxidoreductase 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,062,629...8,070,873
Ensembl chr 3:8,062,630...8,070,860
JBrowse link
G Nelfb negative elongation factor complex member B ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,010,883...8,027,403
Ensembl chr 3:8,010,888...8,027,403
JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
JBrowse link
G Noxa1 NADPH oxidase activator 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:7,895,488...7,907,011
Ensembl chr 3:7,895,488...7,905,967
JBrowse link
G Npdc1 neural proliferation, differentiation and control, 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,220,446...8,226,446 JBrowse link
G Nrarp Notch-regulated ankyrin repeat protein ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:7,992,582...7,995,136
Ensembl chr 3:7,992,552...7,995,133
JBrowse link
G Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:7,861,846...7,870,615
Ensembl chr 3:7,861,872...7,870,614
JBrowse link
G Paxx PAXX, non-homologous end joining factor ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,274,762...8,276,338
Ensembl chr 3:8,274,762...8,276,521
JBrowse link
G Phpt1 phosphohistidine phosphatase 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,392,926...8,394,325 JBrowse link
G Pmpca peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:9,207,731...9,216,846
Ensembl chr 3:9,207,717...9,216,844
JBrowse link
G Pnpla7 patatin-like phospholipase domain containing 7 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:7,782,572...7,861,504
Ensembl chr 3:7,782,572...7,861,497
JBrowse link
G Ptgds prostaglandin D2 synthase ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,281,899...8,284,833
Ensembl chr 3:8,281,899...8,284,833
JBrowse link
G Qsox2 quiescin sulfhydryl oxidase 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:9,034,994...9,064,649
Ensembl chr 3:9,034,994...9,064,664
JBrowse link
G Rabl6 RAB, member RAS oncogene family-like 6 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,402,666...8,428,588
Ensembl chr 3:8,402,672...8,428,611
JBrowse link
G Rnf208 ring finger protein 208 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,057,808...8,059,721
Ensembl chr 3:8,043,685...8,059,844
JBrowse link
G Rnf224 ring finger protein 224 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,050,353...8,052,861
Ensembl chr 3:8,051,475...8,051,945
JBrowse link
G Sapcd2 suppressor APC domain containing 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,186,089...8,195,119
Ensembl chr 3:8,187,266...8,192,546
JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Malignant migrating partial seizures of infancy ClinVar PMID:25741868 NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214
JBrowse link
G Sec16a SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:9,229,687...9,264,837
Ensembl chr 3:9,229,687...9,264,273
JBrowse link
G Slc34a3 solute carrier family 34 member 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,044,294...8,050,034
Ensembl chr 3:8,044,296...8,049,970
JBrowse link
G Snapc4 small nuclear RNA activating complex, polypeptide 4 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:9,182,061...9,200,819
Ensembl chr 3:9,182,067...9,199,518
JBrowse link
G Ssna1 SS nuclear autoantigen 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,084,949...8,086,417
Ensembl chr 3:8,084,974...8,086,356
JBrowse link
G Stpg3 sperm-tail PG-rich repeat containing 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,028,122...8,030,546
Ensembl chr 3:8,028,131...8,034,601
JBrowse link
G Tmem141 transmembrane protein 141 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,439,533...8,441,491
Ensembl chr 3:8,439,533...8,441,491
JBrowse link
G Tmem203 transmembrane protein 203 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,070,904...8,071,732
Ensembl chr 3:8,070,914...8,071,867
JBrowse link
G Tmem210 transmembrane protein 210 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,100,595...8,101,643
Ensembl chr 3:8,100,590...8,101,643
JBrowse link
G Tmem250 transmembrane protein 250 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,962,657...8,966,349
Ensembl chr 3:8,962,657...8,966,349
JBrowse link
G Tor4a torsin family 4, member A ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,004,292...8,007,979
Ensembl chr 3:8,002,023...8,008,042
JBrowse link
G Tprn taperin ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,076,164...8,083,642
Ensembl chr 3:8,075,137...8,083,642
JBrowse link
G Traf2 Tnf receptor-associated factor 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,341,950...8,366,609
Ensembl chr 3:8,341,951...8,366,538
JBrowse link
G Tubb4b tubulin, beta 4B class IVb ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,037,844...8,040,294
Ensembl chr 3:8,037,799...8,040,296
JBrowse link
G Uap1l1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,172,335...8,180,505
Ensembl chr 3:8,173,216...8,180,443
JBrowse link
G Ubac1 UBA domain containing 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,825,444...8,848,055
Ensembl chr 3:8,825,447...8,848,028
JBrowse link
G Zmynd19 zinc finger, MYND-type containing 19 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:7,758,086...7,778,982
Ensembl chr 3:7,758,133...7,767,514
JBrowse link
developmental and epileptic encephalopathy 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 15
ClinVar Annotator: match by term: Epilepsy due to perinatal stroke
OMIM
ClinVar
PMID:18414213 PMID:23252400 PMID:25741868 PMID:28492532 PMID:30089820 More... NCBI chr 5:131,470,348...131,670,794
Ensembl chr 5:131,470,348...131,670,810
JBrowse link
developmental and epileptic encephalopathy 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 16 OMIM
ClinVar
PMID:23526554 PMID:23806086 PMID:24033266 PMID:24088043 PMID:24291220 More... NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050
JBrowse link
developmental and epileptic encephalopathy 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnao1 G protein subunit alpha o1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 17
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 17
ClinVar Annotator: match by OMIM:615473
OMIM
ClinVar
PMID:18414213 PMID:23993195 PMID:25741868 PMID:25966631 PMID:26060304 More... NCBI chr19:11,034,874...11,192,502
Ensembl chr19:11,035,956...11,192,493
JBrowse link
developmental and epileptic encephalopathy 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Szt2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 18
ClinVar Annotator: match by OMIM:615476
OMIM
ClinVar
PMID:23932106 PMID:25741868 PMID:26467025 PMID:27248490 PMID:28492532 More... NCBI chr 5:131,897,250...131,943,953
Ensembl chr 5:131,897,275...131,943,904
JBrowse link
developmental and epileptic encephalopathy 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 ISO ClinVar Annotator: match by OMIM:615744
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 19
ClinVar
OMIM
PMID:16718694 PMID:18414213 PMID:24623842 PMID:25741868 PMID:26467025 More... NCBI chr10:26,595,151...26,650,611
Ensembl chr10:26,595,160...26,650,864
JBrowse link
developmental and epileptic encephalopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg2 adhesion G protein-coupled receptor G2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:34,297,402...34,422,590
Ensembl chr  X:34,297,402...34,422,609
JBrowse link
G Bclaf3 BCLAF1 and THRAP3 family member 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:35,257,228...35,328,883
Ensembl chr  X:35,263,576...35,328,816
JBrowse link
G Bend2 BEN domain containing 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 More... NCBI chr  X:33,365,748...33,389,773 JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 severity ISO ClinVar Annotator: match by OMIM:300672
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2
ClinVar Annotator: match by term: INFANTILE SPASM SYNDROME, X-LINKED 2
DNA:mutations:cds:
ClinVar
OMIM
RGD
PMID:9536098 PMID:15492925 PMID:15499549 PMID:15689447 PMID:15917271 More... RGD:12791015 NCBI chr  X:33,757,605...33,988,075
Ensembl chr  X:33,821,257...33,986,582
JBrowse link
G Eif1ax eukaryotic translation initiation factor 1A, X-linked ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:35,498,698...35,513,402
Ensembl chr  X:35,498,517...35,513,335
JBrowse link
G Map3k15 mitogen-activated protein kinase kinase kinase 15 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:34,713,150...34,859,054 JBrowse link
G Map7d2 MAP7 domain containing 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:35,372,453...35,488,073
Ensembl chr  X:35,372,700...35,488,091
JBrowse link
G Nhs NHS actin remodeling regulator ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 More... NCBI chr  X:32,551,974...32,892,961
Ensembl chr  X:32,552,026...32,889,992
JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:34,700,481...34,714,309
Ensembl chr  X:34,700,409...34,714,311
JBrowse link
G Phka2 phosphorylase kinase regulatory subunit alpha 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:34,170,959...34,293,498 JBrowse link
G Ppef1 protein phosphatase with EF-hand domain 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:33,994,503...34,151,704
Ensembl chr  X:34,021,350...34,151,701
JBrowse link
G Rai2 retinoic acid induced 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 More... NCBI chr  X:32,948,656...33,011,222
Ensembl chr  X:32,948,656...33,011,264
JBrowse link
G Rps6ka3 ribosomal protein S6 kinase A3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:35,517,306...35,623,296
Ensembl chr  X:35,517,306...35,623,207
JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2
ClinVar Annotator: match by term: INFANTILE SPASM SYNDROME, X-LINKED 2
ClinVar PMID:9536098 PMID:15499549 PMID:16813600 PMID:17546640 PMID:17576681 More... NCBI chr  X:33,963,657...33,992,115
Ensembl chr  X:33,963,657...33,992,115
JBrowse link
G Scml1 Scm polycomb group protein like 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 More... NCBI chr  X:32,893,100...32,912,686 JBrowse link
G Scml2 Scm polycomb group protein like 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 More... NCBI chr  X:33,523,179...33,677,672
Ensembl chr  X:33,524,530...33,652,742
JBrowse link
G Sh3kbp1 SH3 domain-containing kinase-binding protein 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:34,877,862...35,223,013
Ensembl chr  X:34,877,866...35,222,747
JBrowse link
developmental and epileptic encephalopathy 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsm4 acyl-CoA synthetase medium-chain family member 4 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 1:174,053,931...174,078,345
Ensembl chr 1:174,053,931...174,078,341
JBrowse link
G Aicda activation-induced cytidine deaminase ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
JBrowse link
G Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 4:155,800,030...155,828,515
Ensembl chr 4:155,800,887...155,827,390
JBrowse link
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 4:157,554,287...157,568,092
Ensembl chr 4:157,551,276...157,568,132
JBrowse link
G C1r complement C1r ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 4:157,412,718...157,423,483
Ensembl chr 4:157,412,692...157,423,484
JBrowse link
G C1rl complement C1r subcomponent like ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 4:157,394,183...157,410,771
Ensembl chr 4:157,394,200...157,410,134
JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 4:157,430,249...157,442,438
Ensembl chr 4:157,430,117...157,442,303
JBrowse link
G C3ar1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 4:156,074,747...156,084,680
Ensembl chr 4:156,075,389...156,084,701
JBrowse link
G Cd163 CD163 molecule ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
JBrowse link
G Cdca3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 4:157,634,775...157,638,799
Ensembl chr 4:157,634,928...157,638,799
JBrowse link
G Clec4a C-type lectin domain family 4, member A ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 4:156,340,439...156,434,212
Ensembl chr 4:156,414,688...156,432,402
JBrowse link
G Clec4a1 C-type lectin domain family 4, member A1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 4:156,173,894...156,186,009
Ensembl chr 4:156,173,894...156,186,008
JBrowse link
G Clec4a3 C-type lectin domain family 4, member A3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 4:156,214,030...156,224,818
Ensembl chr 4:156,214,718...156,224,817
JBrowse link
G Clec4b2 C-type lectin domain family 4, member B2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 4:156,462,742...156,486,240
Ensembl chr 4:156,462,742...156,486,240
JBrowse link
G Clec4d C-type lectin domain family 4, member D ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 4:156,589,591...156,598,969
Ensembl chr 4:156,589,792...156,598,848
JBrowse link
G Clec4e C-type lectin domain family 4, member E ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 4:156,606,927...156,612,911
Ensembl chr 4:156,607,614...156,612,767
JBrowse link
G Clstn3 calsyntenin 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 4:157,331,494...157,364,769
Ensembl chr 4:157,331,494...157,364,769
JBrowse link
G Dppa3 developmental pluripotency-associated 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 4:155,851,461...155,854,845
Ensembl chr 4:155,815,296...155,854,861
JBrowse link
G Emg1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 4:157,509,258...157,517,540
Ensembl chr 4:157,509,277...157,517,540
JBrowse link
G Eno2 enolase 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 4:157,572,085...157,580,971
Ensembl chr 4:157,572,088...157,580,980
JBrowse link
G Fam90a1 family with sequence similarity 90, member A1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr16:70,098,439...70,106,147 JBrowse link
G Foxj2 forkhead box J2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 4:156,047,043...156,073,540
Ensembl chr 4:156,046,969...156,073,518
JBrowse link
G Gdf3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 4:155,831,572...155,835,953
Ensembl chr 4:155,830,909...155,835,937
JBrowse link
G Gnb3 G protein subunit beta 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 4:157,639,468...157,645,171
Ensembl chr 4:157,639,469...157,645,173
JBrowse link
G Grcc10 gene rich cluster, C10 gene ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 4:157,551,276...157,552,924 JBrowse link
G Lpcat3 lysophosphatidylcholine acyltransferase 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 4:157,468,397...157,509,889
Ensembl chr 4:157,468,290...157,509,880
JBrowse link
G Lrrc23 leucine rich repeat containing 23 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 4:157,581,285...157,592,188
Ensembl chr 4:157,581,291...157,591,860
JBrowse link
G Mfap5 microfibril associated protein 5 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 4:155,727,925...155,750,458
Ensembl chr 4:155,727,925...155,750,458
JBrowse link
G Mir141 microRNA 141 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 4:157,523,239...157,523,332
Ensembl chr 4:157,523,239...157,523,332
JBrowse link
G Mir200c microRNA 200c ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 4:157,523,679...157,523,747 JBrowse link
G Nanog Nanog homeobox ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 4:155,943,737...155,951,116
Ensembl chr 4:155,943,737...155,951,116
JBrowse link
G Necap1 NECAP endocytosis associated 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 OMIM
ClinVar
PMID:24399846 PMID:25558065 PMID:25741868 PMID:28492532 PMID:30525121 More... NCBI chr 4:156,103,935...156,119,068
Ensembl chr 4:156,103,988...156,119,068
JBrowse link
G P3h3 prolyl 3-hydroxylase 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 4:157,646,238...157,662,035 JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431
JBrowse link
G Phb2 prohibitin 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 4:157,517,662...157,522,268
Ensembl chr 4:157,517,577...157,522,272
JBrowse link
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 4:157,526,034...157,550,783
Ensembl chr 4:157,526,035...157,550,984
JBrowse link
G Rimklb ribosomal modification protein rimK-like family member B ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 4:155,664,392...155,706,888 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 4:155,960,944...156,026,000
Ensembl chr 4:155,960,946...156,025,472
JBrowse link
G Spsb2 splA/ryanodine receptor domain and SOCS box containing 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 4:157,612,921...157,615,293
Ensembl chr 4:157,613,401...157,615,284
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541
JBrowse link
G Usp5 ubiquitin specific peptidase 5 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 4:157,619,643...157,634,711
Ensembl chr 4:157,619,643...157,634,711
JBrowse link
developmental and epileptic encephalopathy 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Angptl3 angiopoietin-like 3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 23 ClinVar PMID:28492532 NCBI chr 5:113,703,007...113,710,044
Ensembl chr 5:113,703,012...113,709,957
JBrowse link
G Dock7 dedicator of cytokinesis 7 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 23
ClinVar Annotator: match by OMIM:615859
OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24814191 PMID:25363768 More... NCBI chr 5:113,599,371...113,782,871
Ensembl chr 5:113,600,198...113,782,813
JBrowse link
developmental and epileptic encephalopathy 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 24 ClinVar
OMIM
PMID:24747641 PMID:25741868 PMID:26467025 PMID:28166811 PMID:28492532 More... NCBI chr 2:49,495,771...49,899,702
Ensembl chr 2:49,495,771...49,899,774
JBrowse link
developmental and epileptic encephalopathy 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acadvl acyl-CoA dehydrogenase, very long chain ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075
JBrowse link
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr10:56,655,693...56,664,922
Ensembl chr10:56,655,693...56,664,922
JBrowse link
G Alox12 arachidonate 12-lipoxygenase, 12S type ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr10:54,958,263...54,970,542
Ensembl chr10:54,958,271...54,970,542
JBrowse link
G Asgr1 asialoglycoprotein receptor 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr10:54,775,727...54,779,642
Ensembl chr10:54,776,024...54,779,631
JBrowse link
G Asgr2 asialoglycoprotein receptor 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr10:54,821,407...54,834,624
Ensembl chr10:54,821,438...54,834,617
JBrowse link
G Bcl6b BCL6B, transcription repressor ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr10:54,940,908...54,947,022
Ensembl chr10:54,940,909...54,945,974
JBrowse link
G Clec10a C-type lectin domain containing 10A ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr10:54,876,244...54,880,439
Ensembl chr10:54,876,260...54,880,435
JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr10:54,740,700...54,769,097
Ensembl chr10:54,739,470...54,767,153
JBrowse link
G Fbxo39 F-box protein 39 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr10:56,929,699...56,934,911
Ensembl chr10:56,932,297...56,934,906
JBrowse link
G LOC100912483 uncharacterized LOC100912483 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr10:56,840,451...56,843,674
Ensembl chr10:56,832,412...56,843,871
JBrowse link
G Med31 mediator complex subunit 31 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr10:56,836,944...56,840,326
Ensembl chr10:56,836,944...56,840,326
JBrowse link
G Mir195 microRNA 195 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr10:54,951,838...54,951,924
Ensembl chr10:54,951,838...54,951,924
JBrowse link
G Pimreg PICALM interacting mitotic regulator ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr10:56,669,603...56,674,540
Ensembl chr10:56,669,675...56,674,791
JBrowse link
G Pitpnm3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr10:56,674,697...56,766,552
Ensembl chr10:56,676,261...56,766,584
JBrowse link
G RGD1304728 similar to 4933427D14Rik protein ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr10:56,783,869...56,832,668
Ensembl chr10:56,783,775...56,832,968
JBrowse link
G RGD1308134 similar to RIKEN cDNA 1110020A23 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr10:54,951,991...54,954,756
Ensembl chr10:54,951,991...54,956,601
JBrowse link
G Rnasek ribonuclease K ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr10:54,954,904...54,956,622 JBrowse link
G Slc13a5 solute carrier family 13 member 5 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar
OMIM
PMID:9536098 PMID:10615133 PMID:15249368 PMID:15347646 PMID:16199547 More... NCBI chr10:56,866,249...56,891,189
Ensembl chr10:56,866,249...56,890,945
JBrowse link
G Slc16a11 solute carrier family 16, member 11 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr10:54,929,129...54,933,021
Ensembl chr10:54,927,725...54,942,915
JBrowse link
G Slc16a13 solute carrier family 16, member 13 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr10:54,925,973...54,937,860
Ensembl chr10:54,926,760...54,937,788
JBrowse link
G Tekt1 tektin 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr10:56,952,164...56,980,572
Ensembl chr10:56,952,167...56,980,572
JBrowse link
G Txndc17 thioredoxin domain containing 17 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr10:56,832,749...56,835,721 JBrowse link
G Xaf1 XIAP associated factor 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr10:56,917,284...56,929,791
Ensembl chr10:56,917,121...56,929,770
JBrowse link
developmental and epileptic encephalopathy 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arfgef2 ADP ribosylation factor guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 26 ClinVar PMID:28492532 NCBI chr 3:155,547,504...155,633,652
Ensembl chr 3:155,547,538...155,630,856
JBrowse link
G Cse1l chromosome segregation 1 like ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 26 ClinVar PMID:28492532 NCBI chr 3:155,641,104...155,678,866
Ensembl chr 3:155,641,166...155,678,865
JBrowse link
G Ddx27 DEAD-box helicase 27 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 26 ClinVar PMID:28492532 NCBI chr 3:155,744,182...155,763,380
Ensembl chr 3:155,744,150...155,763,372
JBrowse link
G Kcnb1 potassium voltage-gated channel subfamily B member 1 exacerbates
susceptibility
ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 26
DNA:missense mutation:CDS:p.G379R (mouse)
DNA:missense mutations, nonsense mutations, frameshift mutation:CDS:multiple (human)
ClinVar Annotator: match by term: KCNB1-related disorder
ClinVar
OMIM
RGD
PMID:8698327 PMID:25131622 PMID:25164438 PMID:25741868 PMID:26467025 More... RGD:126908009, RGD:126908008 NCBI chr 3:155,820,255...155,913,383
Ensembl chr 3:155,822,963...155,916,194
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 chr 3:155,680,000...155,725,969
Ensembl chr 3:155,680,000...155,725,909
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 chr 3:155,764,073...155,791,777
Ensembl chr 3:155,764,980...155,821,242
JBrowse link
developmental and epileptic encephalopathy 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 27
OMIM
ClinVar
PMID:18414213 PMID:23408766 PMID:24272827 PMID:24759409 PMID:25326635 More... NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279
JBrowse link
G Mbd5 methyl-CpG binding domain protein 5 ISO ClinVar Annotator: match by term: developmental delay with intractable seizures ClinVar PMID:26467025 PMID:28492532 NCBI chr 3:33,588,854...33,738,730
Ensembl chr 3:33,333,554...33,730,156
JBrowse link
developmental and epileptic encephalopathy 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Maf MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 28 ClinVar PMID:25741868 NCBI chr19:43,353,867...43,713,162
Ensembl chr19:43,360,342...43,712,365
JBrowse link
G Ncf2 neutrophil cytosolic factor 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 28 ClinVar PMID:16937026 PMID:23821607 PMID:25741868 PMID:28492532 NCBI chr13:64,955,502...64,986,289
Ensembl chr13:64,955,503...64,986,277
JBrowse link
G Wwox WW domain-containing oxidoreductase ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 28 ClinVar
OMIM
PMID:16199547 PMID:24456803 PMID:25411445 PMID:25558065 PMID:25741868 More... NCBI chr19:42,432,141...43,360,278 JBrowse link
developmental and epileptic encephalopathy 29 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars1 alanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 29 OMIM
ClinVar
PMID:25741868 PMID:25817015 PMID:28166811 PMID:28492532 PMID:28493438 More... NCBI chr19:38,999,130...39,021,152
Ensembl chr19:38,999,163...39,021,147
JBrowse link
developmental and epileptic encephalopathy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 3
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 3
OMIM
ClinVar
PMID:18414213 PMID:25741868 PMID:26467025 PMID:27843123 PMID:28492532 NCBI chr 1:196,528,471...196,536,398
Ensembl chr 1:196,528,472...196,536,331
JBrowse link
developmental and epileptic encephalopathy 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agpat3 1-acylglycerol-3-phosphate O-acyltransferase 3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr20:10,330,960...10,415,358
Ensembl chr20:10,384,507...10,415,358
JBrowse link
G Cbs cystathionine beta synthase ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764
JBrowse link
G Cryaa crystallin, alpha A ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr20:9,783,605...9,787,351
Ensembl chr20:9,783,605...9,787,349
JBrowse link
G Cstb cystatin B ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr20:10,245,462...10,247,505
Ensembl chr20:10,245,462...10,247,526
JBrowse link
G Gatd3a glutamine amidotransferase class 1 domain containing 3A ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr20:10,514,793...10,522,894
Ensembl chr20:10,514,744...10,522,885
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 chr20:10,035,562...10,123,059
Ensembl chr20:10,035,562...10,121,242
JBrowse link
G Ndufv3 NADH:ubiquinone oxidoreductase subunit V3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr20:9,612,462...9,621,622
Ensembl chr20:9,612,431...9,623,074
JBrowse link
G Pde9a phosphodiesterase 9A ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr20:9,469,809...9,562,949
Ensembl chr20:9,469,848...9,562,948
JBrowse link
G Pknox1 PBX/knotted 1 homeobox 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr20:9,662,866...9,705,030
Ensembl chr20:9,662,899...9,703,727
JBrowse link
G Pwp2 PWP2, small subunit processome component ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr20:10,499,332...10,512,965
Ensembl chr20:10,499,363...10,513,640
JBrowse link
G Rrp1 ribosomal RNA processing 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr20:10,260,892...10,272,141
Ensembl chr20:10,260,870...10,272,144
JBrowse link
G Rrp1b ribosomal RNA processing 1B ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr20:10,123,111...10,148,704
Ensembl chr20:10,123,125...10,147,928
JBrowse link
G Rsph1 radial spoke head component 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr20:9,341,910...9,360,640
Ensembl chr20:9,341,913...9,360,640
JBrowse link
G Sik1 salt-inducible kinase 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:25741868 PMID:25839329 PMID:26467025 More... NCBI chr20:9,949,407...9,959,036
Ensembl chr20:9,947,396...9,958,991
JBrowse link
G Slc37a1 solute carrier family 37 member 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr20:9,360,501...9,433,895
Ensembl chr20:9,378,836...9,433,892
JBrowse link
G Trappc10 trafficking protein particle complex subunit 10 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr20:10,438,737...10,499,074
Ensembl chr20:10,438,737...10,499,074
JBrowse link
G U2af1 U2 small nuclear RNA auxiliary factor 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr20:9,742,904...9,753,840
Ensembl chr20:9,742,905...9,753,832
JBrowse link
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr20:9,587,205...9,611,434
Ensembl chr20:9,587,207...9,603,581
JBrowse link
developmental and epileptic encephalopathy 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak1 adenylate kinase 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:15,912,431...15,923,045 JBrowse link
G Angptl2 angiopoietin-like 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:16,517,185...16,547,024
Ensembl chr 3:16,517,420...16,548,178
JBrowse link
G Bbln bublin coiled coil protein ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:15,674,577...15,677,393
Ensembl chr 3:15,674,580...15,677,374
JBrowse link
G Cdk9 cyclin-dependent kinase 9 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:15,996,467...16,001,315
Ensembl chr 3:15,996,468...16,002,410
JBrowse link
G Cfap157 cilia and flagella associated protein 157 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:16,066,521...16,073,504
Ensembl chr 3:16,066,521...16,073,495
JBrowse link
G Ciz1 CDKN1A interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:8335685 PMID:10608808 PMID:11031245 PMID:11553700 PMID:18469812 More... NCBI chr 3:15,658,479...15,675,716
Ensembl chr 3:15,658,539...15,673,762
JBrowse link
G Dnm1 dynamin 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 OMIM
ClinVar
PMID:8335685 PMID:9536098 PMID:10608808 PMID:11031245 PMID:11553700 More... NCBI chr 3:15,604,782...15,648,654
Ensembl chr 3:15,604,784...15,648,538
JBrowse link
G Dpm2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:15,855,952...15,858,867 JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
JBrowse link
G Fam102a family with sequence similarity 102, member A ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:15,823,147...15,854,651
Ensembl chr 3:15,823,144...15,854,643
JBrowse link
G Fpgs folylpolyglutamate synthase ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:15,972,800...15,993,592
Ensembl chr 3:15,972,800...15,993,563
JBrowse link
G Garnl3 GTPase activating Rap/RanGAP domain-like 3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:16,288,718...16,432,308
Ensembl chr 3:16,288,719...16,430,837
JBrowse link
G Lcn2 lipocalin 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:16,862,195...16,940,899
Ensembl chr 3:16,862,195...16,940,899
JBrowse link
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:16,223,367...16,264,261
Ensembl chr 3:16,223,367...16,264,154
JBrowse link
G Naif1 nuclear apoptosis inducing factor 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:15,742,337...15,747,672
Ensembl chr 3:15,742,919...15,747,669
JBrowse link
G Niban2 niban apoptosis regulator 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:16,174,674...16,224,293
Ensembl chr 3:16,174,659...16,224,293
JBrowse link
G Pip5kl1 phosphatidylinositol-4-phosphate 5-kinase-like 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:15,860,493...15,869,264
Ensembl chr 3:15,855,946...15,869,165
JBrowse link
G Ptges2 prostaglandin E synthase 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:15,690,501...15,697,688
Ensembl chr 3:15,690,501...15,697,688
JBrowse link
G Ptrh1 peptidyl-tRNA hydrolase 1 homolog ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:16,064,867...16,071,098
Ensembl chr 3:16,064,880...16,070,648
JBrowse link
G Ralgps1 Ral GEF with PH domain and SH3 binding motif 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:16,433,323...16,670,276
Ensembl chr 3:16,433,742...16,669,972
JBrowse link
G Rpl12 ribosomal protein L12 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:16,264,269...16,266,645
Ensembl chr 3:16,264,251...16,266,642
JBrowse link
G Sh2d3c SH2 domain containing 3C ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:16,010,622...16,046,491
Ensembl chr 3:16,010,625...16,046,484
JBrowse link
G Slc25a25 solute carrier family 25 member 25 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:15,708,702...15,742,195
Ensembl chr 3:15,708,703...15,742,216
JBrowse link
G Slc2a8 solute carrier family 2 member 8 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:16,274,918...16,284,536
Ensembl chr 3:16,274,925...16,284,464
JBrowse link
G St6galnac4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:15,872,230...15,885,250
Ensembl chr 3:15,872,532...15,885,243
JBrowse link
G St6galnac6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:15,894,278...15,907,502
Ensembl chr 3:15,885,968...15,907,496
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
JBrowse link
G Tor2a torsin family 2, member A ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:16,048,566...16,053,198
Ensembl chr 3:16,048,549...16,052,634
JBrowse link
G Ttc16 tetratricopeptide repeat domain 16 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:16,048,484...16,064,598
Ensembl chr 3:16,048,565...16,064,547
JBrowse link
G Zbtb34 zinc finger and BTB domain containing 34 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:16,703,355...16,726,065
Ensembl chr 3:16,703,262...16,726,098
JBrowse link
G Zbtb43 zinc finger and BTB domain containing 43 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:16,744,535...16,763,854
Ensembl chr 3:16,744,535...16,763,909
JBrowse link
G Zfp35 zinc finger protein 35 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr18:15,268,852...15,284,334
Ensembl chr18:15,268,814...15,285,088
JBrowse link
developmental and epileptic encephalopathy 32 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcna2 potassium voltage-gated channel subfamily A member 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 32 OMIM
ClinVar
PMID:8663992 PMID:8663993 PMID:15694325 PMID:16002579 PMID:18414213 More... NCBI chr 2:194,704,555...194,718,387
Ensembl chr 2:194,704,639...194,718,400
JBrowse link
developmental and epileptic encephalopathy 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd16b abhydrolase domain containing 16B ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,594,677...168,596,574
Ensembl chr 3:168,594,609...168,619,762
JBrowse link
G Adrm1 ADRM1 26S proteasome ubiquitin receptor ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:167,265,435...167,270,197
Ensembl chr 3:167,265,296...167,270,195
JBrowse link
G Arfgap1 ADP-ribosylation factor GTPase activating protein 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,084,560...168,099,948
Ensembl chr 3:168,084,614...168,099,933
JBrowse link
G Arfrp1 ADP-ribosylation factor related protein 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,466,351...168,473,960
Ensembl chr 3:168,466,496...168,473,914
JBrowse link
G Bhlhe23 basic helix-loop-helix family, member e23 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:167,889,009...167,891,223
Ensembl chr 3:167,889,009...167,891,223
JBrowse link
G Birc7 baculoviral IAP repeat-containing 7 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,047,824...168,052,606
Ensembl chr 3:168,047,824...168,052,606
JBrowse link
G Cables2 Cdk5 and Abl enzyme substrate 2 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:167,347,527...167,362,274
Ensembl chr 3:167,347,461...167,362,279
JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33
ClinVar PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 More... NCBI chr 3:168,136,246...168,157,839
Ensembl chr 3:168,136,266...168,156,957
JBrowse link
G Col20a1 collagen type XX alpha 1 chain ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,102,475...168,134,759
Ensembl chr 3:168,084,560...168,135,309
JBrowse link
G Col9a3 collagen type IX alpha 3 chain ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:167,711,776...167,734,468
Ensembl chr 3:167,711,840...167,734,465
JBrowse link
G Dido1 death inducer-obliterator 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:167,772,535...167,825,894
Ensembl chr 3:167,772,770...167,817,218
JBrowse link
G Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,621,905...168,656,570
Ensembl chr 3:168,621,969...168,655,935
JBrowse link
G Eef1a2 eukaryotic translation elongation factor 1 alpha 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33
ClinVar Annotator: match by term: EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy
OMIM
ClinVar
PMID:3066688 PMID:9536098 PMID:14534157 PMID:17290276 PMID:17576681 More... NCBI chr 3:168,265,893...168,275,071 JBrowse link
G Fndc11 fibronectin type III domain containing 11 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,330,607...168,333,111
Ensembl chr 3:168,330,602...168,334,617
JBrowse link
G Gata5 GATA binding protein 5 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:167,418,563...167,426,751
Ensembl chr 3:167,418,565...167,426,751
JBrowse link
G Gid8 GID complex subunit 8 homolog ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:167,826,006...167,836,759
Ensembl chr 3:167,826,060...167,834,814
JBrowse link
G Gmeb2 glucocorticoid modulatory element binding protein 2 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,362,650...168,400,788
Ensembl chr 3:168,362,650...168,400,788
JBrowse link
G Helz2 helicase with zinc finger 2 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,338,813...168,353,219
Ensembl chr 3:168,338,813...168,353,159
JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33
ClinVar PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 More... NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
JBrowse link
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:167,270,296...167,318,370
Ensembl chr 3:167,270,296...167,318,451
JBrowse link
G Lime1 Lck interacting transmembrane adaptor 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,490,535...168,496,627
Ensembl chr 3:168,490,074...168,493,127
JBrowse link
G Mir1b microRNA 1b ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:167,487,117...167,487,201
Ensembl chr 3:167,487,117...167,487,201
JBrowse link
G Mrgbp MRG domain binding protein ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:167,697,129...167,700,592
Ensembl chr 3:167,697,185...167,700,592
JBrowse link
G Nkain4 Sodium/potassium transporting ATPase interacting 4 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,053,294...168,073,944
Ensembl chr 3:168,053,066...168,073,925
JBrowse link
G Ntsr1 neurotensin receptor 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:167,606,215...167,656,377
Ensembl chr 3:167,606,215...167,656,377
JBrowse link
G Ogfr opioid growth factor receptor ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:167,703,173...167,709,459
Ensembl chr 3:167,702,695...167,709,473
JBrowse link
G Osbpl2 oxysterol binding protein-like 2 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:167,210,945...167,256,219
Ensembl chr 3:167,210,832...167,256,219
JBrowse link
G Ppdpf pancreatic progenitor cell differentiation and proliferation factor ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 ClinVar PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 More... NCBI chr 3:168,299,309...168,301,040
Ensembl chr 3:168,299,791...168,301,036
JBrowse link
G Prpf6 pre-mRNA processing factor 6 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,706,952...168,771,191
Ensembl chr 3:168,704,299...168,774,991
JBrowse link
G Ptk6 protein tyrosine kinase 6 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,307,073...168,315,664
Ensembl chr 3:168,307,073...168,315,664
JBrowse link
G Rbbp8nl RBBP8 N-terminal like ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:167,364,048...167,378,993
Ensembl chr 3:167,364,048...167,379,092
JBrowse link
G Rps21-ps1 ribosomal protein S21, pseudogene 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 5:153,387,133...153,387,476 JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
JBrowse link
G Samd10 sterile alpha motif domain containing 10 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,700,280...168,704,427
Ensembl chr 3:168,700,284...168,705,248
JBrowse link
G Slc17a9 solute carrier family 17 member 9 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:167,839,246...167,857,462
Ensembl chr 3:167,839,385...167,855,985
JBrowse link
G Slc2a4rg SLC2A4 regulator ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,493,975...168,497,616 JBrowse link
G Slco4a1 solute carrier organic anion transporter family, member 4a1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:167,559,177...167,578,307
Ensembl chr 3:167,559,316...167,578,305
JBrowse link
G Srms src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,318,511...168,324,915
Ensembl chr 3:168,318,512...168,324,915
JBrowse link
G Stmn3 stathmin 3 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,416,810...168,424,946
Ensembl chr 3:168,416,810...168,425,056
JBrowse link
G Tcfl5 transcription factor like 5 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:167,734,471...167,754,174
Ensembl chr 3:167,734,473...167,754,282
JBrowse link
G Tpd52l2 TPD52 like 2 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,598,449...168,618,201 JBrowse link
G Uckl1 uridine-cytidine kinase 1-like 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,674,849...168,687,513
Ensembl chr 3:168,674,849...168,698,091
JBrowse link
G Ythdf1 YTH N(6)-methyladenosine RNA binding protein 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,024,660...168,040,172
Ensembl chr 3:168,024,663...168,040,172
JBrowse link
G Zbtb46 zinc finger and BTB domain containing 46 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,497,294...168,567,799
Ensembl chr 3:168,499,583...168,568,782
JBrowse link
G Zfp512b zinc finger protein 512B ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,687,520...168,698,067
Ensembl chr 3:168,687,521...168,698,091
JBrowse link
G Zgpat zinc finger CCCH-type and G-patch domain containing ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,473,836...168,490,380
Ensembl chr 3:168,473,981...168,490,380
JBrowse link
developmental and epileptic encephalopathy 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc12a5 solute carrier family 12 member 5 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 34 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24668262 PMID:24928908 More... NCBI chr 3:153,696,522...153,735,801
Ensembl chr 3:153,696,517...153,735,765
JBrowse link
developmental and epileptic encephalopathy 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itpa inosine triphosphatase ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 35
OMIM
ClinVar
PMID:12384777 PMID:15973722 PMID:16431304 PMID:18616518 PMID:18662289 More... NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249
JBrowse link
developmental and epileptic encephalopathy 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 36
ClinVar Annotator: match by term: CDG Is
ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Is
ClinVar Annotator: match by OMIM:300884
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:22492991 PMID:23033978 PMID:23934111 More... NCBI chr  X:107,885,039...107,906,264
Ensembl chr  X:107,885,064...107,893,002
JBrowse link
G Dcx doublecortin ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 36 ClinVar PMID:28492532 NCBI chr  X:107,430,767...107,573,612
Ensembl chr  X:107,430,767...107,507,476
JBrowse link
developmental and epileptic encephalopathy 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abitram actin binding transcription modulator ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 37 ClinVar PMID:28492532 NCBI chr 5:71,505,853...71,524,224
Ensembl chr 5:71,505,813...71,511,890
JBrowse link
G Ctnnal1 catenin alpha-like 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 37 ClinVar PMID:28492532 NCBI chr 5:71,514,340...71,569,431
Ensembl chr 5:71,514,340...71,569,431
JBrowse link
G Elp1 elongator acetyltransferase complex subunit 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 37 ClinVar PMID:28492532 NCBI chr 5:71,453,338...71,505,833
Ensembl chr 5:71,456,310...71,505,762
JBrowse link
G Frrs1l ferric-chelate reductase 1-like ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 37 ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 More... NCBI chr 5:71,655,911...71,690,132
Ensembl chr 5:71,659,284...71,690,108
JBrowse link
G Mir32 microRNA 32 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 37 ClinVar PMID:28492532 NCBI chr 5:71,596,083...71,596,152
Ensembl chr 5:71,596,083...71,596,152
JBrowse link
G Tmem245 transmembrane protein 245 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 37 ClinVar PMID:28492532 NCBI chr 5:71,570,952...71,647,915
Ensembl chr 5:71,514,858...71,647,763
JBrowse link
developmental and epileptic encephalopathy 38 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arv1 ARV1 homolog, fatty acid homeostasis modulator ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 38
ClinVar
OMIM
PMID:25558065 PMID:25741868 PMID:27270415 PMID:28492532 PMID:32165008 NCBI chr19:52,692,337...52,704,156
Ensembl chr19:52,692,337...52,704,156
JBrowse link
developmental and epileptic encephalopathy 39 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a12 solute carrier family 25 member 12 ISO ClinVar Annotator: match by term: Hypomyelination, global cerebral
ClinVar Annotator: match by OMIM:612949
OMIM
ClinVar
PMID:19641205 PMID:24515575 PMID:24973975 PMID:25741868 PMID:28492532 NCBI chr 3:56,098,080...56,192,188
Ensembl chr 3:56,097,269...56,192,100
JBrowse link
developmental and epileptic encephalopathy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 4 ClinVar PMID:25741868 NCBI chr  X:33,757,605...33,988,075
Ensembl chr  X:33,821,257...33,986,582
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 3:16,223,367...16,264,261
Ensembl chr 3:16,223,367...16,264,154
JBrowse link
G Niban2 niban apoptosis regulator 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 4 ClinVar PMID:25741868 NCBI chr 3:16,174,674...16,224,293
Ensembl chr 3:16,174,659...16,224,293
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 4
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4
ClinVar Annotator: match by term: STXBP1-associated neurodevelopmental disorder
DNA:deletion, missense mutations:exon:multiple
DNA:deletions, nonsense mutation, splice-site mutations:exon, intron:multiple
ClinVar Annotator: match by OMIM:612164
OMIM
ClinVar
RGD
PMID:9536098 PMID:17576681 PMID:18414213 PMID:18469812 PMID:19557857 More... RGD:12903960, RGD:11068998 NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
JBrowse link
developmental and epileptic encephalopathy 40 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Guf1 GTP binding elongation factor GUF1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 40 ClinVar
OMIM
PMID:25741868 PMID:26486472 NCBI chr14:38,537,953...38,557,331
Ensembl chr14:38,537,953...38,557,331
JBrowse link
developmental and epileptic encephalopathy 41 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc1a2 solute carrier family 1 member 2 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 41
ClinVar
OMIM
PMID:23107647 PMID:23934111 PMID:24214974 PMID:25741868 PMID:27476654 More... NCBI chr 3:89,005,129...89,126,498
Ensembl chr 3:89,005,129...89,126,498
JBrowse link
developmental and epileptic encephalopathy 42 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42
ClinVar
OMIM
PMID:8898206 PMID:9329229 PMID:9536098 PMID:10408532 PMID:16043807 More... NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
JBrowse link
developmental and epileptic encephalopathy 43 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 43 ClinVar
OMIM
PMID:23934111 PMID:25741868 PMID:28492532 NCBI chr 1:108,467,047...108,702,522
Ensembl chr 1:108,296,124...108,698,961
JBrowse link
developmental and epileptic encephalopathy 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acad11 acyl-CoA dehydrogenase family, member 11 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 44 ClinVar PMID:25741868 NCBI chr 8:104,681,346...104,746,559
Ensembl chr 8:104,681,396...104,746,560
JBrowse link
G Uba5 ubiquitin-like modifier activating enzyme 5 ISO ClinVar Annotator: match by OMIM:617132
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 44
ClinVar
OMIM
PMID:24033266 PMID:25741868 PMID:27545674 PMID:27545681 PMID:27926783 More... NCBI chr 8:104,665,241...104,680,850
Ensembl chr 8:104,665,046...104,680,894
JBrowse link
developmental and epileptic encephalopathy 45 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabrb1 gamma-aminobutyric acid type A receptor subunit beta1 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 45
ClinVar
OMIM
PMID:23934111 PMID:25741868 PMID:26950270 PMID:27273810 PMID:31618474 NCBI chr14:36,068,725...36,548,946
Ensembl chr14:36,080,393...36,548,948
JBrowse link
developmental and epileptic encephalopathy 46 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grin2d glutamate ionotropic receptor NMDA type subunit 2D ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 46 ClinVar
OMIM
PMID:25741868 PMID:27616483 PMID:30280376 PMID:32860008 NCBI chr 1:96,306,871...96,346,994
Ensembl chr 1:96,308,365...96,344,793
JBrowse link
developmental and epileptic encephalopathy 47 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf12 fibroblast growth factor 12 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 47 ClinVar
OMIM
PMID:25741868 PMID:27164707 PMID:27830185 PMID:27872899 PMID:28135719 More... NCBI chr11:71,997,049...72,564,965
Ensembl chr11:71,997,099...72,562,607
JBrowse link
developmental and epileptic encephalopathy 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3b2 adaptor related protein complex 3 subunit beta 2 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 48
ClinVar
OMIM
PMID:18414213 PMID:25741868 PMID:27431290 PMID:27889060 PMID:28492532 NCBI chr 1:135,412,580...135,445,191
Ensembl chr 1:135,412,580...135,445,191
JBrowse link
developmental and epileptic encephalopathy 49 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dennd5a DENN domain containing 5A ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 49
ClinVar
OMIM
PMID:25741868 PMID:27431290 PMID:27866705 NCBI chr 1:163,928,183...163,994,207
Ensembl chr 1:163,928,183...163,994,316
JBrowse link
developmental and epileptic encephalopathy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 5
ClinVar Annotator: match by OMIM:613477
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18414213 PMID:22258530 PMID:25741868 More... NCBI chr 3:13,241,164...13,306,047
Ensembl chr 3:13,241,217...13,306,046
JBrowse link
developmental and epileptic encephalopathy 50 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 50
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1z
OMIM
ClinVar
PMID:25678555 PMID:25741868 PMID:28007989 PMID:28492532 NCBI chr 6:25,292,133...25,315,176
Ensembl chr 6:25,292,133...25,319,861
JBrowse link
developmental and epileptic encephalopathy 51 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mdh2 malate dehydrogenase 2 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 51
ClinVar
OMIM
PMID:25741868 PMID:27989324 NCBI chr12:20,894,269...20,907,225
Ensembl chr12:20,894,262...20,907,271
JBrowse link
G Styxl1 serine/threonine/tyrosine interacting-like 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 51 ClinVar PMID:25741868 NCBI chr12:20,907,410...20,940,232
Ensembl chr12:20,907,435...20,939,752
JBrowse link
developmental and epileptic encephalopathy 52 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 52
ClinVar
OMIM
PMID:19710327 PMID:21994374 PMID:22155597 PMID:22155598 PMID:22284586 More... NCBI chr 1:86,353,917...86,363,836
Ensembl chr 1:86,353,917...86,363,739
JBrowse link
developmental and epileptic encephalopathy 53 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Synj1 synaptojanin 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 53 OMIM
ClinVar
PMID:25741868 PMID:27435091 PMID:28492532 PMID:32214227 NCBI chr11:30,192,629...30,269,277
Ensembl chr11:30,192,629...30,269,220
JBrowse link
developmental and epileptic encephalopathy 54 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnrnpu heterogeneous nuclear ribonucleoprotein U ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 54
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 54
ClinVar
OMIM
PMID:22678713 PMID:25356899 PMID:25741868 PMID:26467025 PMID:27652284 More... NCBI chr13:90,069,058...90,086,905
Ensembl chr13:90,074,181...90,086,588
JBrowse link
developmental and epileptic encephalopathy 55 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigp phosphatidylinositol glycan anchor biosynthesis, class P ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 55
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 55
ClinVar
OMIM
PMID:25741868 PMID:28334793 PMID:31139695 PMID:32042915 NCBI chr11:33,682,943...33,689,071
Ensembl chr11:33,682,948...33,689,321
JBrowse link
developmental and epileptic encephalopathy 56 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ywhag tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56 ClinVar
OMIM
PMID:23934111 PMID:25741868 PMID:28777935 NCBI chr12:20,744,500...20,772,828
Ensembl chr12:20,744,535...20,772,827
JBrowse link
developmental and epileptic encephalopathy 57 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnt2 potassium sodium-activated channel subfamily T member 2 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 57
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 57
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 57
ClinVar
OMIM
PMID:24166878 PMID:25741868 PMID:26724206 PMID:29069600 PMID:29314763 More... NCBI chr13:51,664,129...52,059,209
Ensembl chr13:51,664,686...52,056,987
JBrowse link
developmental and epileptic encephalopathy 58 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ntrk2 neurotrophic receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58 OMIM
ClinVar
PMID:25741868 PMID:29100083 NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136
JBrowse link
developmental and epileptic encephalopathy 59 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 59
ClinVar
OMIM
PMID:25262651 PMID:25741868 PMID:28492532 PMID:28856709 PMID:29100083 More... NCBI chr 5:60,947,517...61,288,104
Ensembl chr 5:60,947,526...61,288,104
JBrowse link
developmental and epileptic encephalopathy 60 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnpy3 canopy FGF signaling regulator 3 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 60 ClinVar
OMIM
PMID:25741868 PMID:29394991 NCBI chr 9:14,233,478...14,247,847
Ensembl chr 9:14,233,428...14,247,831
JBrowse link
developmental and epileptic encephalopathy 61 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam22 ADAM metallopeptidase domain 22 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 61 ClinVar
OMIM
PMID:25741868 PMID:27066583 PMID:30237576 NCBI chr 4:25,716,055...25,970,932
Ensembl chr 4:25,715,990...25,964,962
JBrowse link
developmental and epileptic encephalopathy 62 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn3a sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 62 OMIM
ClinVar
PMID:25741868 PMID:28166811 PMID:28492532 PMID:29466837 PMID:29740860 More... NCBI chr 3:50,146,411...50,258,119
Ensembl chr 3:50,148,139...50,258,119
JBrowse link
developmental and epileptic encephalopathy 63 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cplx1 complexin 1 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 63
ClinVar
OMIM
PMID:25741868 PMID:26539891 PMID:28422131 PMID:28492532 NCBI chr14:1,184,638...1,216,392 JBrowse link
Developmental and Epileptic Encephalopathy 64 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rhobtb2 Rho-related BTB domain containing 2 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 64
ClinVar
OMIM
PMID:18298893 PMID:18835386 PMID:25741868 PMID:26740508 PMID:28492532 More... NCBI chr15:44,868,251...44,888,436
Ensembl chr15:44,870,376...44,888,651
JBrowse link
developmental and epileptic encephalopathy 65 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyfip2 cytoplasmic FMR1 interacting protein 2 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 65
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 65
ClinVar
OMIM
PMID:21107423 PMID:25741868 PMID:25741869 PMID:25741870 PMID:26582918 More... NCBI chr10:30,621,318...30,741,113