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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 IAGP ClinVar Annotator: match by term: Autosomal recessive infantile epilepsy ClinVar PMID:23686771 PMID:25741868 PMID:26595808 NCBI chr 3:195,863,364...195,908,551
Ensembl chr 3:195,863,364...195,911,945
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 IAGP ClinVar Annotator: match by term: Seizures, benign familial infantile, 2 ClinVar
OMIM
PMID:9579893 PMID:11179027 PMID:12953268 PMID:22101681 PMID:22120146 More... NCBI chr16:29,812,193...29,815,920
Ensembl chr16:29,811,382...29,815,892
JBrowse link
Benign Familial Infantile Seizures, 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 IAGP ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591
JBrowse link
G CSRNP3 cysteine and serine rich nuclear protein 3 IAGP ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 2:165,469,680...165,689,407
Ensembl chr 2:165,469,647...165,689,407
JBrowse link
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 IAGP ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 2:165,747,588...165,796,352
Ensembl chr 2:165,747,588...165,794,659
JBrowse link
G LOC120977013 Sharpr-MPRA regulatory region 13511 IAGP ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:21416599 PMID:21692795 PMID:21893419 PMID:23016767 PMID:23184456 More... NCBI chr 2:165,293,739...165,294,033 JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214
JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 IAGP DNA: missense mutation: exon 16 : p.N1001K
ClinVar Annotator: match by term: Seizures, benign familial infantile, 3
ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3
ClinVar
OMIM
RGD
PMID:3508699 PMID:6660252 PMID:9536098 PMID:11326335 PMID:11371648 More... RGD:13207596 NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310
JBrowse link
G SCN3A sodium voltage-gated channel alpha subunit 3 IAGP ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 2:165,087,526...165,204,295
Ensembl chr 2:165,087,526...165,204,050
JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 IAGP ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001
JBrowse link
G TTC21B tetratricopeptide repeat domain 21B IAGP ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 2:165,873,362...165,953,781
Ensembl chr 2:165,857,475...165,953,851
JBrowse link
Benign Familial Infantile Seizures, 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNQ3 potassium voltage-gated channel subfamily Q member 3 IAGP ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 5 ClinVar PMID:23020937 PMID:23934111 PMID:25740509 PMID:25741868 PMID:26350515 More... NCBI chr 8:132,120,858...132,481,095
Ensembl chr 8:132,120,859...132,481,095
JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 IAGP 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 chr12:51,591,233...51,812,864
Ensembl chr12:51,590,266...51,812,864
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 IAGP ClinVar Annotator: match by term: Benign familial neonatal seizures ClinVar PMID:28492532 PMID:29383681 PMID:29852413 NCBI chr 8:133,190,907...133,231,690
Ensembl chr 8:133,191,039...133,231,690
JBrowse link
G CSRNP3 cysteine and serine rich nuclear protein 3 IAGP ClinVar Annotator: match by term: Benign familial infantile convulsions ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 2:165,469,680...165,689,407
Ensembl chr 2:165,469,647...165,689,407
JBrowse link
G DNAAF11 dynein axonemal assembly factor 11 IAGP ClinVar Annotator: match by term: Benign familial neonatal seizures ClinVar PMID:28492532 PMID:29383681 PMID:29852413 NCBI chr 8:132,570,416...132,685,039
Ensembl chr 8:132,570,416...132,675,592
JBrowse link
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 IAGP ClinVar Annotator: match by term: Benign familial infantile convulsions ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 2:165,747,588...165,796,352
Ensembl chr 2:165,747,588...165,794,659
JBrowse link
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 IAGP ClinVar Annotator: match by term: Benign familial neonatal seizures ClinVar PMID:18625963 PMID:19464834 NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,208...63,472,677
JBrowse link
G KCNQ3 potassium voltage-gated channel subfamily Q member 3 IAGP ClinVar Annotator: match by term: Benign familial neonatal seizures
ClinVar Annotator: match by term: Benign familial neonatal-infantile seizures
ClinVar PMID:9425900 PMID:9536098 PMID:14534157 PMID:16199547 PMID:16235065 More... NCBI chr 8:132,120,858...132,481,095
Ensembl chr 8:132,120,859...132,481,095
JBrowse link
G NDRG1 N-myc downstream regulated 1 IAGP ClinVar Annotator: match by term: Benign familial neonatal seizures ClinVar PMID:28492532 PMID:29383681 PMID:29852413 NCBI chr 8:133,237,175...133,297,252
Ensembl chr 8:133,237,175...133,302,022
JBrowse link
G PHF20L1 PHD finger protein 20 like 1 IAGP ClinVar Annotator: match by term: Benign familial neonatal seizures ClinVar PMID:28492532 PMID:29383681 PMID:29852413 NCBI chr 8:132,775,371...132,848,807
Ensembl chr 8:132,775,358...132,848,807
JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP ClinVar Annotator: match by term: Benign familial infantile convulsions ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214
JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 IAGP ClinVar Annotator: match by term: Benign familial neonatal-infantile seizures
ClinVar Annotator: match by term: Benign familial neonatal seizures
ClinVar Annotator: match by term: Benign familial infantile convulsions
ClinVar PMID:11738931 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310
JBrowse link
G SCN3A sodium voltage-gated channel alpha subunit 3 IAGP ClinVar Annotator: match by term: Benign familial infantile convulsions ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 2:165,087,526...165,204,295
Ensembl chr 2:165,087,526...165,204,050
JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 IAGP ClinVar Annotator: match by term: Benign familial infantile convulsions ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001
JBrowse link
G SLA Src like adaptor IAGP ClinVar Annotator: match by term: Benign familial neonatal seizures ClinVar PMID:28492532 PMID:29383681 PMID:29852413 NCBI chr 8:133,036,728...133,103,053
Ensembl chr 8:133,036,728...133,102,912
JBrowse link
G TG thyroglobulin IAGP ClinVar Annotator: match by term: Benign familial neonatal seizures ClinVar PMID:28492532 PMID:29383681 PMID:29852413 NCBI chr 8:132,866,943...133,134,902
Ensembl chr 8:132,866,958...133,134,903
JBrowse link
G TMEM71 transmembrane protein 71 IAGP ClinVar Annotator: match by term: Benign familial neonatal seizures ClinVar PMID:28492532 PMID:29383681 PMID:29852413 NCBI chr 8:132,705,839...132,775,999
Ensembl chr 8:132,685,007...132,760,712
JBrowse link
G TTC21B tetratricopeptide repeat domain 21B IAGP 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 2:165,873,362...165,953,781
Ensembl chr 2:165,857,475...165,953,851
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 IAGP ClinVar Annotator: match by term: Benign familial neonatal seizures 1 ClinVar NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497
JBrowse link
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 IAGP ClinVar Annotator: match by term: Benign familial neonatal seizures 1
ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1, and/or myokymia
ClinVar
OMIM
PMID:2847176 PMID:3360469 PMID:4055306 PMID:7980108 PMID:9425895 More... NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,208...63,472,677
JBrowse link
G KCNQ2-AS1 KCNQ2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Benign familial neonatal seizures 1 ClinVar PMID:24375629 NCBI chr20:63,447,024...63,450,898 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 IAGP ClinVar Annotator: match by term: Benign familial neonatal seizures 2 ClinVar PMID:12742592 PMID:15249611 PMID:17129708 PMID:28492532 PMID:29314763 More... NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,208...63,472,677
JBrowse link
G KCNQ3 potassium voltage-gated channel subfamily Q member 3 IAGP DNA:missense mutation:cds:p.G263V (human)
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)
ClinVar
OMIM
RGD
PMID:1859177 PMID:9425900 PMID:10852552 PMID:14534157 PMID:16235065 More... RGD:9686418, RGD:9686433 NCBI chr 8:132,120,858...132,481,095
Ensembl chr 8:132,120,859...132,481,095
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 IAGP ClinVar Annotator: match by term: Epilepsy, benign neonatal, 1, and/or myokymia ClinVar PMID:24375629 PMID:25741868 NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,208...63,472,677
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 IAGP ClinVar Annotator: match by term: Benign Neonatal Epilepsy 1 ClinVar PMID:2847176 PMID:3360469 PMID:4055306 PMID:9425895 PMID:9536098 More... NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,208...63,472,677
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 IAGP ClinVar Annotator: match by term: neonatal seizures ClinVar PMID:16199547 PMID:16491085 PMID:20554659 PMID:21733724 PMID:25741868 More... NCBI chr 5:126,541,841...126,595,219
Ensembl chr 5:126,531,200...126,595,362
JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 IAGP RGD PMID:12953268 RGD:1358436 NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591
JBrowse link
G CSRNP3 cysteine and serine rich nuclear protein 3 IAGP ClinVar Annotator: match by term: Epilepsy, benign neonatal-infantile ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 2:165,469,680...165,689,407
Ensembl chr 2:165,469,647...165,689,407
JBrowse link
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 IAGP ClinVar Annotator: match by term: Epilepsy, benign neonatal-infantile ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 2:165,747,588...165,796,352
Ensembl chr 2:165,747,588...165,794,659
JBrowse link
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19380078 PMID:26910900 NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,208...63,472,677
JBrowse link
G KCNQ3 potassium voltage-gated channel subfamily Q member 3 IAGP
ISS
IEA
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 8:132,120,858...132,481,095
Ensembl chr 8:132,120,859...132,481,095
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP ClinVar Annotator: match by term: neonatal seizures ClinVar PMID:14635118 PMID:16919951 PMID:20185557 PMID:21357833 PMID:21550804 More... NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP ClinVar Annotator: match by term: Epilepsy, benign neonatal-infantile ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214
JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 IAGP ClinVar Annotator: match by term: Epilepsy, benign neonatal-infantile
ClinVar Annotator: match by term: Benign Neonatal Epilepsy
ClinVar PMID:11738931 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310
JBrowse link
G SCN3A sodium voltage-gated channel alpha subunit 3 IAGP ClinVar Annotator: match by term: Epilepsy, benign neonatal-infantile ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 2:165,087,526...165,204,295
Ensembl chr 2:165,087,526...165,204,050
JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 IAGP ClinVar Annotator: match by term: Epilepsy, benign neonatal-infantile ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001
JBrowse link
G TTC21B tetratricopeptide repeat domain 21B IAGP ClinVar Annotator: match by term: Epilepsy, benign neonatal-infantile ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 2:165,873,362...165,953,781
Ensembl chr 2:165,857,475...165,953,851
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 IAGP ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,205,063...49,233,404
Ensembl chr  X:49,205,063...49,233,371
JBrowse link
G CCDC120 coiled-coil domain containing 120 IAGP ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar Annotator: match by term: SLC35A2-CDG
ClinVar PMID:28492532 NCBI chr  X:49,053,572...49,069,858
Ensembl chr  X:49,053,572...49,069,857
JBrowse link
G CCDC22 coiled-coil domain containing 22 IAGP ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,235,470...49,250,526
Ensembl chr  X:49,235,470...49,250,520
JBrowse link
G CLCN5 chloride voltage-gated channel 5 IAGP ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,922,596...50,099,231
Ensembl chr  X:49,922,596...50,099,235
JBrowse link
G EBP EBP cholestenol delta-isomerase IAGP ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716
JBrowse link
G ERAS ES cell expressed Ras IAGP ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar Annotator: match by term: SLC35A2-CDG
ClinVar PMID:28492532 NCBI chr  X:48,826,513...48,829,869
Ensembl chr  X:48,826,513...48,830,138
JBrowse link
G FOXP3 forkhead box P3 IAGP ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,250,436...49,264,932
Ensembl chr  X:49,250,438...49,270,477
JBrowse link
G GAGE1 G antigen 1 IAGP ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,598,992...49,608,538
Ensembl chr  X:49,599,025...49,608,536
JBrowse link
G GAGE12B G antigen 12B IAGP ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,341,164...49,529,982
Ensembl chr  X:49,529,869...49,529,985
Ensembl chr  X:49,529,869...49,529,985
JBrowse link
G GAGE12C G antigen 12C IAGP ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,532,177...49,539,538
Ensembl chr  X:49,532,211...49,539,538
JBrowse link
G GAGE12D G antigen 12D IAGP ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,541,733...49,549,094
Ensembl chr  X:49,541,767...49,549,094
JBrowse link
G GAGE12E G antigen 12E IAGP ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,551,289...49,558,645
Ensembl chr  X:49,551,316...49,558,649
JBrowse link
G GAGE12F G antigen 12F IAGP ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,560,842...49,568,205
Ensembl chr  X:49,551,278...49,568,218
JBrowse link
G GAGE12G G antigen 12G IAGP ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,570,397...49,577,757
Ensembl chr  X:49,570,434...49,577,754
JBrowse link
G GAGE12H G antigen 12H IAGP ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,579,949...49,587,301
Ensembl chr  X:49,579,983...49,587,301
JBrowse link
G GAGE12I G antigen 12I IAGP ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,341,210...49,529,985
Ensembl chr  X:49,551,278...49,568,218
Ensembl chr  X:49,551,278...49,568,218
JBrowse link
G GAGE12J G antigen 12J IAGP ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,322,037...49,329,384
Ensembl chr  X:49,322,057...49,329,384
JBrowse link
G GAGE13 G antigen 13 IAGP ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,331,582...49,338,949
Ensembl chr  X:49,331,616...49,338,952
JBrowse link
G GAGE2A G antigen 2A IAGP ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,589,496...49,596,824
Ensembl chr  X:49,589,529...49,596,827
JBrowse link
G GAGE2B G antigen 2B IAGP ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,331,615...49,338,933 JBrowse link
G GAGE2C G antigen 2C IAGP ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,331,615...49,338,962 JBrowse link
G GAGE2D G antigen 2D IAGP ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,560,844...49,568,208 JBrowse link
G GAGE2E G antigen 2E IAGP ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,560,886...49,568,208 JBrowse link
G GAGE8 G antigen 8 IAGP ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532
G GATA1 GATA binding protein 1 IAGP ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar Annotator: match by term: SLC35A2-CDG
ClinVar PMID:28492532 NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,562...48,794,311
JBrowse link
G GLOD5 glyoxalase domain containing 5 IAGP ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar Annotator: match by term: SLC35A2-CDG
ClinVar PMID:28492532 NCBI chr  X:48,761,747...48,773,648
Ensembl chr  X:48,761,747...48,773,648
JBrowse link
G GPKOW G-patch domain and KOW motifs IAGP ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,113,396...49,124,547
Ensembl chr  X:49,113,407...49,123,735
JBrowse link
G GRIPAP1 GRIP1 associated protein 1 IAGP ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar Annotator: match by term: SLC35A2-CDG
ClinVar PMID:28492532 NCBI chr  X:48,973,723...49,002,264
Ensembl chr  X:48,973,720...49,002,264
JBrowse link
G HDAC6 histone deacetylase 6 IAGP ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar Annotator: match by term: SLC35A2-CDG
ClinVar PMID:28492532 NCBI chr  X:48,801,398...48,824,982
Ensembl chr  X:48,801,377...48,824,982
JBrowse link
G KCND1 potassium voltage-gated channel subfamily D member 1 IAGP ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar Annotator: match by term: SLC35A2-CDG
ClinVar PMID:28492532 NCBI chr  X:48,960,983...48,972,103
Ensembl chr  X:48,961,378...48,971,844
JBrowse link
G MAGIX MAGI family member, X-linked IAGP ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,162,843...49,168,157
Ensembl chr  X:49,162,564...49,168,483
JBrowse link
G MIR502 microRNA 502 IAGP ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:50,014,598...50,014,683
Ensembl chr  X:50,014,598...50,014,683
JBrowse link
G MIR532 microRNA 532 IAGP ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:50,003,148...50,003,238
Ensembl chr  X:50,003,148...50,003,238
JBrowse link
G OTUD5 OTU deubiquitinase 5 IAGP ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar Annotator: match by term: SLC35A2-CDG
ClinVar PMID:28492532 NCBI chr  X:48,922,024...48,960,783
Ensembl chr  X:48,922,024...48,958,386
JBrowse link
G PAGE1 PAGE family member 1 IAGP ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,687,447...49,696,019
Ensembl chr  X:49,687,447...49,695,984
JBrowse link
G PAGE4 PAGE family member 4 IAGP ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,829,260...49,834,264
Ensembl chr  X:49,829,260...49,834,264
JBrowse link
G PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor IAGP ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar Annotator: match by term: SLC35A2-CDG
ClinVar PMID:28492532 NCBI chr  X:48,831,096...48,835,610
Ensembl chr  X:48,831,096...48,835,610
JBrowse link
G PIM2 Pim-2 proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar Annotator: match by term: SLC35A2-CDG
ClinVar PMID:28492532 NCBI chr  X:48,913,182...48,919,024
Ensembl chr  X:48,913,182...48,919,024
JBrowse link
G PLP2 proteolipid protein 2 IAGP ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,171,898...49,175,235
Ensembl chr  X:49,171,898...49,175,235
JBrowse link
G PPP1R3F protein phosphatase 1 regulatory subunit 3F IAGP ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,269,793...49,301,465
Ensembl chr  X:49,269,793...49,301,461
JBrowse link
G PQBP1 polyglutamine binding protein 1 IAGP ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar Annotator: match by term: SLC35A2-CDG
ClinVar PMID:28492532 NCBI chr  X:48,897,862...48,903,143
Ensembl chr  X:48,890,197...48,903,143
JBrowse link
G PRAF2 PRA1 domain family member 2 IAGP ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar Annotator: match by term: SLC35A2-CDG
ClinVar PMID:28492532 NCBI chr  X:49,071,161...49,074,002
Ensembl chr  X:49,071,161...49,074,002
JBrowse link
G PRICKLE3 prickle planar cell polarity protein 3 IAGP ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,174,802...49,186,373
Ensembl chr  X:49,174,802...49,186,528
JBrowse link
G RBM3 RNA binding motif protein 3 IAGP ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:48,574,484...48,581,162
Ensembl chr  X:48,574,449...48,581,162
JBrowse link
G SLC35A2 solute carrier family 35 member A2 IAGP ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar Annotator: match by term: SLC35A2-CDG
ClinVar
OMIM
PMID:23561849 PMID:24115232 PMID:25262651 PMID:25741868 PMID:26350515 More... NCBI chr  X:48,903,183...48,911,958
Ensembl chr  X:48,903,180...48,911,958
JBrowse link
G SUV39H1 SUV39H1 histone lysine methyltransferase IAGP ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar Annotator: match by term: SLC35A2-CDG
ClinVar PMID:28492532 NCBI chr  X:48,695,554...48,709,016
Ensembl chr  X:48,695,554...48,709,016
JBrowse link
G SYP synaptophysin IAGP ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,187,815...49,200,193
Ensembl chr  X:49,187,815...49,200,199
JBrowse link
G TBC1D25 TBC1 domain family member 25 IAGP ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:48,539,714...48,562,609
Ensembl chr  X:48,539,714...48,562,609
JBrowse link
G TFE3 transcription factor binding to IGHM enhancer 3 IAGP ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar Annotator: match by term: SLC35A2-CDG
ClinVar PMID:28492532 NCBI chr  X:49,028,726...49,043,357
Ensembl chr  X:49,028,726...49,043,410
JBrowse link
G TIMM17B translocase of inner mitochondrial membrane 17B IAGP ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar Annotator: match by term: SLC35A2-CDG
ClinVar PMID:28492532 NCBI chr  X:48,893,447...48,898,143
Ensembl chr  X:48,893,447...48,898,143
JBrowse link
G USP27X ubiquitin specific peptidase 27 X-linked IAGP ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,879,484...49,882,558
Ensembl chr  X:49,879,484...49,882,558
JBrowse link
G WAS WASP actin nucleation promoting factor IAGP ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar Annotator: match by term: SLC35A2-CDG
ClinVar PMID:28492532 NCBI chr  X:48,683,753...48,691,427
Ensembl chr  X:48,676,596...48,691,427
JBrowse link
G WDR13 WD repeat domain 13 IAGP ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:48,590,053...48,608,869
Ensembl chr  X:48,590,042...48,608,869
JBrowse link
G WDR45 WD repeat domain 45 IAGP ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar Annotator: match by term: SLC35A2-CDG
ClinVar PMID:28492532 NCBI chr  X:49,074,442...49,101,178
Ensembl chr  X:49,074,433...49,101,170
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 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
JBrowse link
G ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:111,680,741...111,764,164
Ensembl chr  X:111,665,811...111,760,649
JBrowse link
G ARX aristaless related homeobox ISO
IAGP
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1
associated with Mental Retardation, X-Linked;DNA:insertion:cds:c.333_334ins(GCG)7 (human)
ClinVar
OMIM
RGD
PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:9536098 More... RGD:11565838, RGD:11565846 NCBI chr  X:25,003,694...25,015,965
Ensembl chr  X:25,003,694...25,016,420
JBrowse link
G BRICD5 BRICHOS domain containing 5 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr16:2,209,253...2,210,863
Ensembl chr16:2,209,253...2,210,905
JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025
JBrowse link
G CASKIN1 CASK interacting protein 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr16:2,177,180...2,196,605
Ensembl chr16:2,177,180...2,196,605
JBrowse link
G CCNF cyclin F IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 More... NCBI chr16:2,429,447...2,458,854
Ensembl chr16:2,429,394...2,458,854
JBrowse link
G CSNK1E casein kinase 1 epsilon IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar NCBI chr22:38,290,691...38,318,084
Ensembl chr22:38,290,691...38,318,084
JBrowse link
G DNASE1L2 deoxyribonuclease 1 like 2 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr16:2,236,444...2,238,711
Ensembl chr16:2,235,816...2,238,711
JBrowse link
G E4F1 E4F transcription factor 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr16:2,223,498...2,235,742
Ensembl chr16:2,223,580...2,235,742
JBrowse link
G ECI1 enoyl-CoA delta isomerase 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr16:2,239,402...2,251,587
Ensembl chr16:2,239,402...2,252,300
JBrowse link
G GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr15:26,543,552...26,773,763
Ensembl chr15:26,543,546...26,939,539
JBrowse link
G GNAO1 G protein subunit alpha o1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr16:56,191,489...56,357,444
Ensembl chr16:56,191,390...56,357,444
JBrowse link
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24747641 NCBI chr 5:45,254,948...45,696,380
Ensembl chr 5:45,254,948...45,696,498
JBrowse link
G KCNA2 potassium voltage-gated channel subfamily A member 2 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:8663992 PMID:8663993 PMID:15694325 PMID:16002579 PMID:21044565 More... NCBI chr 1:110,593,580...110,631,536
Ensembl chr 1:110,519,837...110,631,474
JBrowse link
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,208...63,472,677
JBrowse link
G LOC109610631 aristaless related homeobox polyalanine expansion region IAGP 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:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:10353782 More... NCBI chr  X:25,013,530...25,013,697 JBrowse link
G LOC110120570 VISTA enhancer hs12 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:27569545 PMID:28492532 NCBI chr16:78,476,711...78,478,047 JBrowse link
G LOC110120595 VISTA enhancer hs122 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr  X:24,998,950...25,000,639 JBrowse link
G LOC110120597 VISTA enhancer hs145 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr  X:25,000,754...25,002,415 JBrowse link
G LOC112486209 Sharpr-MPRA regulatory region 4302 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25411445 PMID:27569545 PMID:28492532 NCBI chr16:78,428,252...78,428,546 JBrowse link
G MAF MAF bZIP transcription factor IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome
ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr16:79,202,624...79,601,952
Ensembl chr16:79,585,843...79,600,737
JBrowse link
G MIR1225 microRNA 1225 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr16:2,090,195...2,090,284
Ensembl chr16:2,090,195...2,090,284
JBrowse link
G MLST8 MTOR associated protein, LST8 homolog IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr16:2,204,628...2,209,453
Ensembl chr16:2,204,248...2,209,453
JBrowse link
G NAPB NSF attachment protein beta IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar NCBI chr20:23,374,522...23,421,498
Ensembl chr20:23,374,519...23,421,519
JBrowse link
G NRXN2 neurexin 2 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar NCBI chr11:64,606,174...64,723,197
Ensembl chr11:64,606,174...64,723,197
JBrowse link
G NTN3 netrin 3 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr16:2,471,297...2,474,145
Ensembl chr16:2,471,297...2,474,145
JBrowse link
G PGP phosphoglycolate phosphatase IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr16:2,211,593...2,214,840
Ensembl chr16:2,211,593...2,214,840
JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898
JBrowse link
G PLCB1 phospholipase C beta 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr20:8,132,266...8,884,900
Ensembl chr20:8,077,251...8,968,360
JBrowse link
G POLA1 DNA polymerase alpha 1, catalytic subunit IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr  X:24,693,877...24,996,986
Ensembl chr  X:24,693,873...24,996,986
JBrowse link
G RAB26 RAB26, member RAS oncogene family IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr16:2,148,144...2,154,165
Ensembl chr16:2,140,803...2,154,165
JBrowse link
G RNPS1 RNA binding protein with serine rich domain 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr16:2,253,116...2,268,126
Ensembl chr16:2,253,116...2,268,397
JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:16458823 PMID:20522430 PMID:22151702 PMID:23195492 PMID:23808377 More... NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214
JBrowse link
G SLC35A2 solute carrier family 35 member A2 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr  X:48,903,183...48,911,958
Ensembl chr  X:48,903,180...48,911,958
JBrowse link
G ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr 1:43,707,465...43,931,164
Ensembl chr 1:43,705,824...43,931,165
JBrowse link
G SYNJ1 synaptojanin 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr21:32,628,759...32,731,247
Ensembl chr21:32,628,759...32,728,040
JBrowse link
G SZT2 SZT2 subunit of KICSTOR complex IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:43,389,884...43,454,247
Ensembl chr 1:43,389,882...43,454,247
JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1
ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome
ClinVar PMID:9536098 PMID:10574461 PMID:16855591 PMID:17576681 PMID:18414213 More... NCBI chr16:2,475,104...2,509,669
Ensembl chr16:2,475,051...2,509,560
JBrowse link
G TEDC2 tubulin epsilon and delta complex 2 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr16:2,460,109...2,464,963
Ensembl chr16:2,460,086...2,464,963
JBrowse link
G TPTEP2-CSNK1E TPTEP2-CSNK1E readthrough IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar NCBI chr22:38,290,691...38,398,915
Ensembl chr22:38,291,918...38,398,522
JBrowse link
G TRAF7 TNF receptor associated factor 7 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr16:2,155,778...2,178,129
Ensembl chr16:2,155,698...2,178,129
JBrowse link
G TSC2 TSC complex subunit 2 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr16:2,047,804...2,089,491
Ensembl chr16:2,047,967...2,089,491
JBrowse link
G WWOX WW domain containing oxidoreductase IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome
ClinVar Annotator: match by term: OHTAHARA SYNDROME, X-LINKED
ClinVar PMID:9536098 PMID:11572989 PMID:16199547 PMID:17576681 PMID:20480411 More... NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667
JBrowse link
G WWOX-AS1 WWOX antisense RNA 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:27569545 PMID:28492532 NCBI chr16:78,230,135...78,242,608
Ensembl chr16:78,234,652...78,241,989
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 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 11 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 2:165,469,680...165,689,407
Ensembl chr 2:165,469,647...165,689,407
JBrowse link
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 11 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 2:165,747,588...165,796,352
Ensembl chr 2:165,747,588...165,794,659
JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 11 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214
JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 11
ClinVar Annotator: match by term: SCN2A-related generalized epilepsy with febrile seizures plus
ClinVar Annotator: match by term: SCN2A-related disorder
ClinVar
OMIM
PMID:11326335 PMID:11738931 PMID:15028761 PMID:15048894 PMID:16199547 More... NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310
JBrowse link
G SCN3A sodium voltage-gated channel alpha subunit 3 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 11 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 2:165,087,526...165,204,295
Ensembl chr 2:165,087,526...165,204,050
JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 11 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001
JBrowse link
G TTC21B tetratricopeptide repeat domain 21B IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 11 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 2:165,873,362...165,953,781
Ensembl chr 2:165,857,475...165,953,851
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 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 12
ClinVar
OMIM
PMID:9305844 PMID:9536098 PMID:17576681 PMID:18414213 PMID:20833646 More... NCBI chr20:8,132,266...8,884,900
Ensembl chr20:8,077,251...8,968,360
JBrowse link
G PNKP polynucleotide kinase 3'-phosphatase IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 12
ClinVar PMID:9536098 PMID:10446192 PMID:11112660 PMID:15381417 PMID:16199547 More... NCBI chr19:49,861,204...49,867,576
Ensembl chr19:49,859,882...49,878,351
JBrowse link
G RNU105B RNA, U105B small nucleolar IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 ClinVar PMID:28492532 NCBI chr20:8,831,185...8,831,393
Ensembl chr20:8,831,186...8,831,393
JBrowse link
developmental and epileptic encephalopathy 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC114803470 SCN8A eExon liver enhancer IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 13 ClinVar PMID:25741868 NCBI chr12:51,662,737...51,663,319 JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 13
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13
ClinVar
OMIM
PMID:12374766 PMID:15525788 PMID:15800189 PMID:17881658 PMID:18414213 More... NCBI chr12:51,591,233...51,812,864
Ensembl chr12:51,590,266...51,812,864
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 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:137,007,234...137,028,922
Ensembl chr 9:137,007,234...137,028,922
JBrowse link
G AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:136,673,143...136,687,457
Ensembl chr 9:136,673,143...136,687,457
JBrowse link
G AJM1 apical junction component 1 homolog IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:136,842,478...136,848,801
Ensembl chr 9:136,844,415...136,848,801
JBrowse link
G AL590627.1 forkhead box H1 (FOXH1) pseudogene IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:137,784,073...137,788,406
Ensembl chr 9:137,776,539...137,789,235
JBrowse link
G ANAPC2 anaphase promoting complex subunit 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:137,174,784...137,188,585
Ensembl chr 9:137,174,784...137,188,560
JBrowse link
G ARRDC1 arrestin domain containing 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:137,605,641...137,615,360
Ensembl chr 9:137,605,685...137,615,360
JBrowse link
G C8G complement C8 gamma chain IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:136,944,870...136,946,981
Ensembl chr 9:136,945,185...136,946,975
JBrowse link
G C9orf163 chromosome 9 putative open reading frame 163 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:136,483,010...136,486,067
Ensembl chr 9:136,483,495...136,486,067
JBrowse link
G CAMSAP1 calmodulin regulated spectrin associated protein 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:135,808,487...135,907,551
Ensembl chr 9:135,808,487...135,907,546
JBrowse link
G CARD9 caspase recruitment domain family member 9 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:136,363,956...136,373,669
Ensembl chr 9:136,361,903...136,373,681
JBrowse link
G CCDC183 coiled-coil domain containing 183 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:136,796,338...136,807,741
Ensembl chr 9:136,796,338...136,807,741
JBrowse link
G CLIC3 chloride intracellular channel 3 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:136,994,608...136,997,929
Ensembl chr 9:136,994,608...136,996,568
JBrowse link
G CYSRT1 cysteine rich tail 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:137,225,174...137,226,315
Ensembl chr 9:137,224,635...137,226,315
JBrowse link
G DIPK1B divergent protein kinase domain 1B IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:136,712,572...136,724,742
Ensembl chr 9:136,712,572...136,724,742
JBrowse link
G DNLZ DNL-type zinc finger IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:136,359,483...136,363,744
Ensembl chr 9:136,359,480...136,363,744
JBrowse link
G DPH7 diphthamide biosynthesis 7 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:137,554,444...137,578,925
Ensembl chr 9:137,554,444...137,578,925
JBrowse link
G DPP7 dipeptidyl peptidase 7 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:137,110,540...137,117,980
Ensembl chr 9:137,110,546...137,115,177
JBrowse link
G EDF1 endothelial differentiation related factor 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:136,862,119...136,866,308
Ensembl chr 9:136,862,119...136,866,308
JBrowse link
G EGFL7 EGF like domain multiple 7 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:136,654,753...136,672,678
Ensembl chr 9:136,658,856...136,672,678
JBrowse link
G EHMT1 euchromatic histone lysine methyltransferase 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:137,619,001...137,836,127
Ensembl chr 9:137,618,992...137,870,016
JBrowse link
G ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:137,048,107...137,054,061
Ensembl chr 9:137,048,107...137,054,061
JBrowse link
G ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:137,434,364...137,441,710
Ensembl chr 9:137,434,364...137,441,816
JBrowse link
G ENTR1 endosome associated trafficking regulator 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:136,401,922...136,410,614
Ensembl chr 9:136,401,922...136,410,614
JBrowse link
G EXD3 exonuclease 3'-5' domain containing 3 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:137,306,896...137,423,262
Ensembl chr 9:137,306,896...137,423,211
JBrowse link
G FAM166A family with sequence similarity 166 member A IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:137,243,585...137,251,313
Ensembl chr 9:137,243,584...137,247,770
JBrowse link
G FBXW5 F-box and WD repeat domain containing 5 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:136,940,435...136,944,774
Ensembl chr 9:136,940,435...136,944,738
JBrowse link
G FUT7 fucosyltransferase 7 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:137,030,174...137,032,088
Ensembl chr 9:137,030,174...137,032,088
JBrowse link
G GPSM1 G protein signaling modulator 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:136,327,539...136,359,605
Ensembl chr 9:136,327,476...136,359,605
JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:137,139,092...137,168,759
Ensembl chr 9:137,139,154...137,168,756
JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:136,428,619...136,439,861
Ensembl chr 9:136,428,619...136,439,845
JBrowse link
G KCNT1 potassium sodium-activated channel subfamily T member 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14
ClinVar Annotator: match by term: Malignant migrating partial seizures of infancy
ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:18414213 PMID:18479385 PMID:19264732 More... NCBI chr 9:135,702,185...135,795,502
Ensembl chr 9:135,702,185...135,795,508
JBrowse link
G LCN10 lipocalin 10 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:136,738,170...136,742,940
Ensembl chr 9:136,738,167...136,743,356
JBrowse link
G LCN12 lipocalin 12 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:136,949,180...136,955,505
Ensembl chr 9:136,949,551...136,955,497
JBrowse link
G LCN15 lipocalin 15 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:136,759,634...136,764,518
Ensembl chr 9:136,759,634...136,766,255
JBrowse link
G LCN6 lipocalin 6 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:136,744,017...136,748,525
Ensembl chr 9:136,744,017...136,748,525
JBrowse link
G LCN8 lipocalin 8 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:136,754,386...136,758,551
Ensembl chr 9:136,754,386...136,758,543
JBrowse link
G LCNL1 lipocalin like 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:136,982,993...136,985,758
Ensembl chr 9:136,981,904...136,986,410
JBrowse link
G LHX3 LIM homeobox 3 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128
JBrowse link
G LINC02908 long intergenic non-protein coding RNA 2908 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:137,027,464...137,037,955
Ensembl chr 9:137,027,464...137,037,957
JBrowse link
G LRRC26 leucine rich repeat containing 26 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:137,168,758...137,170,051
Ensembl chr 9:137,168,758...137,170,051
JBrowse link
G MAMDC4 MAM domain containing 4 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:136,852,346...136,860,799
Ensembl chr 9:136,850,943...136,860,799
JBrowse link
G MAN1B1 mannosidase alpha class 1B member 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:137,086,941...137,109,183
Ensembl chr 9:137,086,857...137,109,189
JBrowse link
G MIR126 microRNA 126 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:136,670,602...136,670,686
Ensembl chr 9:136,670,602...136,670,686
JBrowse link
G MRPL41 mitochondrial ribosomal protein L41 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:137,551,879...137,552,555
Ensembl chr 9:137,551,879...137,552,555
JBrowse link
G NACC2 NACC family member 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:136,006,537...136,095,289
Ensembl chr 9:136,006,537...136,095,289
JBrowse link
G NDOR1 NADPH dependent diflavin oxidoreductase 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:137,205,667...137,219,361
Ensembl chr 9:137,205,685...137,219,361
JBrowse link
G NELFB negative elongation factor complex member B IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:137,255,327...137,273,542
Ensembl chr 9:137,255,327...137,273,542
JBrowse link
G NOTCH1 notch receptor 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
JBrowse link
G NOXA1 NADPH oxidase activator 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:137,423,372...137,434,406
Ensembl chr 9:137,423,350...137,434,406
JBrowse link
G NPDC1 neural proliferation, differentiation and control 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:137,039,463...137,046,177
Ensembl chr 9:137,039,463...137,046,179
JBrowse link
G NRARP NOTCH regulated ankyrin repeat protein IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:137,299,631...137,302,271
Ensembl chr 9:137,299,631...137,302,271
JBrowse link
G NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:137,447,570...137,459,334
Ensembl chr 9:137,447,570...137,459,334
JBrowse link
G PAXX PAXX non-homologous end joining factor IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:136,992,422...136,993,976
Ensembl chr 9:136,992,422...136,993,984
JBrowse link
G PHPT1 phosphohistidine phosphatase 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:136,849,409...136,851,024
Ensembl chr 9:136,848,724...136,851,027
JBrowse link
G PMPCA peptidase, mitochondrial processing subunit alpha IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:136,410,658...136,423,761
Ensembl chr 9:136,410,641...136,423,761
JBrowse link
G PNPLA7 patatin like phospholipase domain containing 7 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:137,459,399...137,550,666
Ensembl chr 9:137,459,952...137,550,402
JBrowse link
G PTGDS prostaglandin D2 synthase IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:136,977,504...136,981,742
Ensembl chr 9:136,975,092...136,981,742
JBrowse link
G QSOX2 quiescin sulfhydryl oxidase 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:136,206,333...136,245,812
Ensembl chr 9:136,206,333...136,245,812
JBrowse link
G RABL6 RAB, member RAS oncogene family like 6 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:136,807,948...136,841,187
Ensembl chr 9:136,807,943...136,841,187
JBrowse link
G RNF208 ring finger protein 208 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:137,220,259...137,223,408
Ensembl chr 9:137,220,247...137,221,581
JBrowse link
G RNF224 ring finger protein 224 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:137,227,502...137,229,640
Ensembl chr 9:137,227,502...137,229,640
JBrowse link
G SAPCD2 suppressor APC domain containing 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:137,062,127...137,070,559
Ensembl chr 9:137,062,127...137,070,557
JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 IAGP ClinVar Annotator: match by term: Malignant migrating partial seizures of infancy ClinVar PMID:25741868 NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310
JBrowse link
G SEC16A SEC16 homolog A, endoplasmic reticulum export factor IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:136,440,096...136,484,552
Ensembl chr 9:136,440,096...136,483,759
JBrowse link
G SLC34A3 solute carrier family 34 member 3 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:137,230,757...137,236,555
Ensembl chr 9:137,230,757...137,236,555
JBrowse link
G SNAPC4 small nuclear RNA activating complex polypeptide 4 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:136,375,571...136,400,170
Ensembl chr 9:136,375,577...136,400,170
JBrowse link
G SNHG7 small nucleolar RNA host gene 7 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:136,724,594...136,728,184
Ensembl chr 9:136,721,366...136,728,184
JBrowse link
G SSNA1 SS nuclear autoantigen 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:137,188,676...137,190,366
Ensembl chr 9:137,188,660...137,190,370
JBrowse link
G STPG3 sperm-tail PG-rich repeat containing 3 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:137,250,840...137,253,483
Ensembl chr 9:137,251,261...137,253,483
JBrowse link
G TMEM141 transmembrane protein 141 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:136,791,344...136,793,317
Ensembl chr 9:136,791,344...136,793,317
JBrowse link
G TMEM203 transmembrane protein 203 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:137,204,082...137,205,648
Ensembl chr 9:137,204,082...137,205,648
JBrowse link
G TMEM210 transmembrane protein 210 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:137,170,858...137,172,056
Ensembl chr 9:137,170,858...137,172,056
JBrowse link
G TMEM250 transmembrane protein 250 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:136,114,581...136,118,875
Ensembl chr 9:136,114,581...136,118,875
JBrowse link
G TOR4A torsin family 4 member A IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:137,277,726...137,282,641
Ensembl chr 9:137,277,726...137,282,641
JBrowse link
G TPRN taperin IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:137,191,619...137,200,741
Ensembl chr 9:137,191,617...137,204,193
JBrowse link
G TRAF2 TNF receptor associated factor 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:136,881,933...136,926,615
Ensembl chr 9:136,881,912...136,926,607
JBrowse link
G TUBB4B tubulin beta 4B class IVb IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:137,241,287...137,243,707
Ensembl chr 9:137,241,287...137,243,707
JBrowse link
G UAP1L1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:137,077,475...137,084,538
Ensembl chr 9:137,077,517...137,084,539
JBrowse link
G UBAC1 UBA domain containing 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:135,932,969...135,961,373
Ensembl chr 9:135,932,969...135,961,373
JBrowse link
G ZMYND19 zinc finger MYND-type containing 19 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 9:137,582,079...137,590,512
Ensembl chr 9:137,582,081...137,590,512
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 IAGP 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 1:43,707,465...43,931,164
Ensembl chr 1:43,705,824...43,931,165
JBrowse link
G ST3GAL3-AS1 ST3GAL3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 15 ClinVar NCBI chr 1:43,709,392...43,727,343
Ensembl chr 1:43,709,392...43,727,343
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 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 16 ClinVar
OMIM
PMID:23526554 PMID:23806086 PMID:24033266 PMID:24088043 PMID:24291220 More... NCBI chr16:2,475,104...2,509,669
Ensembl chr16:2,475,051...2,509,560
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 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 17
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 17
ClinVar
OMIM
PMID:18414213 PMID:23993195 PMID:25741868 PMID:25966631 PMID:26060304 More... NCBI chr16:56,191,489...56,357,444
Ensembl chr16:56,191,390...56,357,444
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 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 18 ClinVar
OMIM
PMID:23932106 PMID:25741868 PMID:26467025 PMID:27248490 PMID:28492532 More... NCBI chr 1:43,389,884...43,454,247
Ensembl chr 1:43,389,882...43,454,247
JBrowse link
G SZT2-AS1 SZT2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 18 ClinVar PMID:23932106 PMID:25741868 PMID:27248490 PMID:28492532 PMID:28556953 NCBI chr 1:43,447,776...43,448,644
Ensembl chr 1:43,447,776...43,448,644
JBrowse link
developmental and epileptic encephalopathy 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 19 ClinVar
OMIM
PMID:16718694 PMID:18414213 PMID:24623842 PMID:25741868 PMID:26467025 More... NCBI chr 5:161,847,191...161,899,971
Ensembl chr 5:161,847,063...161,899,981
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 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:18,989,307...19,122,956
Ensembl chr  X:18,989,307...19,122,637
JBrowse link
G BCLAF3 BCLAF1 and THRAP3 family member 3 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:19,912,860...19,991,061
Ensembl chr  X:19,912,860...19,970,298
JBrowse link
G BEND2 BEN domain containing 2 IAGP 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:18,162,931...18,220,886
Ensembl chr  X:18,162,931...18,220,886
JBrowse link
G CDKL5 cyclin dependent kinase like 5 severity IAGP DNA:mutations:cds:
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2
ClinVar Annotator: match by term: CDKL5 disorder
ClinVar Annotator: match by term: INFANTILE SPASM SYNDROME, X-LINKED 2
ClinVar
OMIM
RGD
PMID:9536098 PMID:15492925 PMID:15499549 PMID:15689447 PMID:15917271 More... RGD:12791015 NCBI chr  X:18,425,608...18,653,629
Ensembl chr  X:18,425,583...18,653,629
JBrowse link
G EIF1AX eukaryotic translation initiation factor 1A X-linked IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:20,124,525...20,141,838
Ensembl chr  X:20,124,525...20,141,838
JBrowse link
G MAP3K15 mitogen-activated protein kinase kinase kinase 15 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:19,360,059...19,515,508
Ensembl chr  X:19,360,056...19,515,508
JBrowse link
G MAP7D2 MAP7 domain containing 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:20,006,713...20,116,907
Ensembl chr  X:20,006,713...20,116,907
JBrowse link
G NHS NHS actin remodeling regulator IAGP 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:17,375,200...17,735,994
Ensembl chr  X:17,375,200...17,735,994
JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:19,343,906...19,361,718
Ensembl chr  X:19,343,893...19,361,718
JBrowse link
G PHKA2 phosphorylase kinase regulatory subunit alpha 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:18,892,298...18,984,114
Ensembl chr  X:18,892,298...18,984,114
JBrowse link
G PPEF1 protein phosphatase with EF-hand domain 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:18,675,067...18,827,921
Ensembl chr  X:18,675,909...18,827,921
JBrowse link
G RAI2 retinoic acid induced 2 IAGP 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:17,800,049...17,861,346
Ensembl chr  X:17,800,049...17,861,337
JBrowse link
G RPS6KA3 ribosomal protein S6 kinase A3 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:20,149,911...20,267,514
Ensembl chr  X:20,149,911...20,267,519
JBrowse link
G RS1 retinoschisin 1 IAGP 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:18,639,688...18,672,108
Ensembl chr  X:18,639,688...18,672,108
JBrowse link
G SCML1 Scm polycomb group protein like 1 IAGP 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:17,737,457...17,754,985
Ensembl chr  X:17,737,449...17,754,988
JBrowse link
G SCML2 Scm polycomb group protein like 2 IAGP 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:18,239,313...18,355,089
Ensembl chr  X:18,239,313...18,354,688
JBrowse link
G SH3KBP1 SH3 domain containing kinase binding protein 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:19,533,977...19,887,600
Ensembl chr  X:19,533,977...19,887,600
JBrowse link
developmental and epileptic encephalopathy 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2ML1 alpha-2-macroglobulin like 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:8,822,554...8,887,202
Ensembl chr12:8,822,621...8,887,001
JBrowse link
G ACSM4 acyl-CoA synthetase medium chain family member 4 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:7,304,072...7,328,719
Ensembl chr12:7,304,284...7,328,724
JBrowse link
G AICDA activation induced cytidine deaminase IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:8,602,170...8,612,970
Ensembl chr12:8,602,170...8,612,867
JBrowse link
G APOBEC1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:7,649,400...7,670,599
Ensembl chr12:7,649,400...7,665,908
JBrowse link
G ATN1 atrophin 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:6,924,459...6,942,321
Ensembl chr12:6,924,463...6,942,321
JBrowse link
G C12orf57 chromosome 12 open reading frame 57 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:6,943,433...6,946,003
Ensembl chr12:6,942,978...6,946,003
JBrowse link
G C1R complement C1r IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:7,080,219...7,092,445
Ensembl chr12:7,080,214...7,092,540
JBrowse link
G C1RL complement C1r subcomponent like IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:7,094,554...7,109,214
Ensembl chr12:7,089,587...7,109,238
JBrowse link
G C1S complement C1s IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:7,060,718...7,071,032
Ensembl chr12:6,988,259...7,071,032
JBrowse link
G C3AR1 complement C3a receptor 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:8,056,844...8,066,359
Ensembl chr12:8,056,844...8,066,359
JBrowse link
G CD163 CD163 molecule IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:7,470,811...7,503,808
Ensembl chr12:7,470,811...7,503,893
JBrowse link
G CD163L1 CD163 molecule like 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:7,320,510...7,444,153
Ensembl chr12:7,346,685...7,479,897
JBrowse link
G CDCA3 cell division cycle associated 3 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:6,844,795...6,852,079
Ensembl chr12:6,844,793...6,851,292
JBrowse link
G CLEC4A C-type lectin domain family 4 member A IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:8,102,902...8,138,607
Ensembl chr12:8,123,617...8,138,607
JBrowse link
G CLEC4C C-type lectin domain family 4 member C IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:7,729,245...7,751,600
Ensembl chr12:7,729,383...7,751,605
JBrowse link
G CLEC4D C-type lectin domain family 4 member D IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:8,513,492...8,522,366
Ensembl chr12:8,509,475...8,522,366
JBrowse link
G CLEC4E C-type lectin domain family 4 member E IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:8,533,305...8,541,327
Ensembl chr12:8,533,305...8,540,905
JBrowse link
G CLEC6A C-type lectin domain containing 6A IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:8,455,962...8,478,330
Ensembl chr12:8,455,962...8,478,330
JBrowse link
G CLSTN3 calsyntenin 3 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:7,130,371...7,158,945
Ensembl chr12:7,129,698...7,158,945
JBrowse link
G DPPA3 developmental pluripotency associated 3 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:7,711,433...7,717,559
Ensembl chr12:7,711,433...7,717,559
JBrowse link
G EMG1 EMG1 N1-specific pseudouridine methyltransferase IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:6,970,913...6,997,428
Ensembl chr12:6,970,913...6,997,428
JBrowse link
G ENO2 enolase 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:6,914,580...6,923,697
Ensembl chr12:6,913,745...6,923,698
JBrowse link
G FAM90A1 family with sequence similarity 90 member A1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:8,221,260...8,227,618
Ensembl chr12:8,221,260...8,227,618
JBrowse link
G FOXJ2 forkhead box J2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:8,032,680...8,055,522
Ensembl chr12:8,032,716...8,055,517
JBrowse link
G GDF3 growth differentiation factor 3 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:7,689,784...7,695,775
Ensembl chr12:7,689,784...7,695,775
JBrowse link
G GNB3 G protein subunit beta 3 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:6,840,922...6,847,393
Ensembl chr12:6,839,954...6,847,393
JBrowse link
G LPCAT3 lysophosphatidylcholine acyltransferase 3 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:6,976,185...7,018,508
Ensembl chr12:6,976,185...7,018,477
JBrowse link
G LRRC23 leucine rich repeat containing 23 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:6,904,822...6,914,229
Ensembl chr12:6,873,569...6,914,241
JBrowse link
G MFAP5 microfibril associated protein 5 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:8,645,943...8,662,826
Ensembl chr12:8,637,346...8,662,888
JBrowse link
G MIR141 microRNA 141 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:6,964,097...6,964,191
Ensembl chr12:6,964,097...6,964,191
JBrowse link
G MIR200C microRNA 200c IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:6,963,699...6,963,766
Ensembl chr12:6,963,699...6,963,766
JBrowse link
G NANOG Nanog homeobox IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:7,789,402...7,799,146
Ensembl chr12:7,787,794...7,799,146
JBrowse link
G NANOGNB NANOG neighbor homeobox IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:7,765,216...7,774,121
Ensembl chr12:7,765,216...7,774,121
JBrowse link
G NECAP1 NECAP endocytosis associated 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar
OMIM
PMID:24399846 PMID:25558065 PMID:25741868 PMID:28492532 PMID:30525121 More... NCBI chr12:8,082,274...8,097,881
Ensembl chr12:8,076,939...8,097,881
JBrowse link
G P3H3 prolyl 3-hydroxylase 3 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:6,828,407...6,839,847
Ensembl chr12:6,828,407...6,839,847
JBrowse link
G PEX5 peroxisomal biogenesis factor 5 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574
JBrowse link
G PHB2 prohibitin 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:6,965,327...6,970,753
Ensembl chr12:6,965,327...6,970,780
JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:6,946,577...6,961,316
Ensembl chr12:6,946,468...6,961,316
JBrowse link
G RBP5 retinol binding protein 5 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:7,119,106...7,130,272
Ensembl chr12:7,115,736...7,128,889
JBrowse link
G RIMKLB ribosomal modification protein rimK like family member B IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:8,681,600...8,783,095
Ensembl chr12:8,681,600...8,783,095
JBrowse link
G SLC2A14 solute carrier family 2 member 14 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:7,812,514...7,891,196
Ensembl chr12:7,812,512...7,891,148
JBrowse link
G SLC2A3 solute carrier family 2 member 3 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:7,919,230...7,936,187
Ensembl chr12:7,919,230...7,936,187
JBrowse link
G SPSB2 splA/ryanodine receptor domain and SOCS box containing 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:6,870,935...6,873,303
Ensembl chr12:6,870,935...6,889,358
JBrowse link
G TPI1 triosephosphate isomerase 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:6,866,834...6,870,948
Ensembl chr12:6,867,119...6,870,948
JBrowse link
G USP5 ubiquitin specific peptidase 5 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:6,852,150...6,866,632
Ensembl chr12:6,852,148...6,866,632
JBrowse link
G ZNF705A zinc finger protein 705A IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr12:8,156,999...8,180,046
Ensembl chr12:8,157,034...8,188,537
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 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 23 ClinVar PMID:28492532 NCBI chr 1:62,597,520...62,606,313
Ensembl chr 1:62,597,520...62,606,313
JBrowse link
G DOCK7 dedicator of cytokinesis 7 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 23 ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24814191 PMID:25363768 More... NCBI chr 1:62,454,726...62,688,386
Ensembl chr 1:62,454,298...62,688,386
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 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 24
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 24
ClinVar
OMIM
PMID:24747641 PMID:25741868 PMID:26467025 PMID:28166811 PMID:28492532 More... NCBI chr 5:45,254,948...45,696,380
Ensembl chr 5:45,254,948...45,696,498
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 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr17:7,217,125...7,225,266
Ensembl chr17:7,217,125...7,225,266
JBrowse link
G AIPL1 aryl hydrocarbon receptor interacting protein like 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr17:6,423,738...6,435,121
Ensembl chr17:6,393,693...6,435,199
JBrowse link
G ALOX12 arachidonate 12-lipoxygenase, 12S type IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr17:6,993,791...7,010,754
Ensembl chr17:6,996,049...7,010,754
JBrowse link
G ASGR1 asialoglycoprotein receptor 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr17:7,173,431...7,179,426
Ensembl chr17:7,173,431...7,179,564
JBrowse link
G ASGR2 asialoglycoprotein receptor 2 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr17:7,101,322...7,115,538
Ensembl chr17:7,101,322...7,115,700
JBrowse link
G BCL6B BCL6B transcription repressor IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr17:7,023,050...7,029,644
Ensembl chr17:7,023,050...7,030,290
JBrowse link
G C17orf100 chromosome 17 open reading frame 100 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr17:6,651,762...6,653,476
Ensembl chr17:6,651,762...6,693,202
JBrowse link
G C17orf49 chromosome 17 open reading frame 49 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr17:7,014,782...7,017,520
Ensembl chr17:7,014,495...7,017,525
JBrowse link
G CLEC10A C-type lectin domain containing 10A IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr17:7,074,537...7,080,307
Ensembl chr17:7,074,537...7,080,307
JBrowse link
G DLG4 discs large MAGUK scaffold protein 4 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr17:7,187,187...7,220,050
Ensembl chr17:7,187,187...7,219,841
JBrowse link
G FBXO39 F-box protein 39 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr17:6,776,215...6,787,646
Ensembl chr17:6,776,215...6,797,101
JBrowse link
G KIAA0753 KIAA0753 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr17:6,578,147...6,640,730
Ensembl chr17:6,578,147...6,640,711
JBrowse link
G MED31 mediator complex subunit 31 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr17:6,643,311...6,651,605
Ensembl chr17:6,643,311...6,651,634
JBrowse link
G MIR195 microRNA 195 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr17:7,017,615...7,017,701
Ensembl chr17:7,017,615...7,017,701
JBrowse link
G MIR497HG mir-497-195 cluster host gene IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr17:7,015,818...7,019,654
Ensembl chr17:7,015,818...7,019,659
JBrowse link
G PIMREG PICALM interacting mitotic regulator IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr17:6,444,455...6,451,469
Ensembl chr17:6,444,441...6,451,469
JBrowse link
G PITPNM3 PITPNM family member 3 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr17:6,451,263...6,556,555
Ensembl chr17:6,451,263...6,556,555
JBrowse link
G RNASEK ribonuclease K IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr17:7,012,624...7,014,532
Ensembl chr17:7,012,417...7,014,532
JBrowse link
G SLC13A5 solute carrier family 13 member 5 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar
OMIM
PMID:9536098 PMID:10615133 PMID:15249368 PMID:15347646 PMID:16199547 More... NCBI chr17:6,684,719...6,713,400
Ensembl chr17:6,684,719...6,713,377
JBrowse link
G SLC16A11 solute carrier family 16 member 11 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr17:7,041,621...7,044,411
Ensembl chr17:7,041,621...7,044,092
JBrowse link
G SLC16A13 solute carrier family 16 member 13 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr17:7,036,015...7,040,117
Ensembl chr17:7,036,015...7,040,117
JBrowse link
G TEKT1 tektin 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr17:6,797,993...6,831,734
Ensembl chr17:6,789,133...6,831,761
JBrowse link
G TXNDC17 thioredoxin domain containing 17 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr17:6,641,060...6,644,541
Ensembl chr17:6,640,985...6,644,541
JBrowse link
G XAF1 XIAP associated factor 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr17:6,755,408...6,775,647
Ensembl chr17:6,755,447...6,775,647
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 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 26 ClinVar PMID:28492532 NCBI chr20:48,921,711...49,036,693
Ensembl chr20:48,921,711...49,036,693
JBrowse link
G CSE1L chromosome segregation 1 like IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 26 ClinVar PMID:28492532 NCBI chr20:49,046,312...49,096,949
Ensembl chr20:49,046,246...49,096,960
JBrowse link
G DDX27 DEAD-box helicase 27 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 26 ClinVar PMID:28492532 NCBI chr20:49,219,416...49,244,073
Ensembl chr20:49,219,347...49,244,077
JBrowse link
G KCNB1 potassium voltage-gated channel subfamily B member 1 exacerbates
susceptibility
IAGP
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 chr20:49,363,877...49,484,033
Ensembl chr20:49,293,394...49,484,297
JBrowse link
G LOC112694720 Sharpr-MPRA regulatory region 13855 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 26 ClinVar NCBI chr20:49,278,392...49,278,686 JBrowse link
G SNORD12 small nucleolar RNA, C/D box 12 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 26 ClinVar NCBI chr20:49,280,683...49,280,772
Ensembl chr20:49,280,683...49,280,772
JBrowse link
G SNORD12B small nucleolar RNA, C/D box 12B IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 26 ClinVar NCBI chr20:49,280,313...49,280,415
Ensembl chr20:49,280,319...49,280,409
JBrowse link
G SNORD12C small nucleolar RNA, C/D box 12C IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 26 ClinVar NCBI chr20:49,278,945...49,279,023
Ensembl chr20:49,278,940...49,279,028
JBrowse link
G STAU1 staufen double-stranded RNA binding protein 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 26 ClinVar PMID:28492532 NCBI chr20:49,113,339...49,219,295
Ensembl chr20:49,113,339...49,188,367
JBrowse link
G ZFAS1 ZNFX1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 26 ClinVar NCBI chr20:49,278,178...49,289,260
Ensembl chr20:49,278,178...49,299,600
JBrowse link
G ZNFX1 zinc finger NFX1-type containing 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 26 ClinVar PMID:28492532 NCBI chr20:49,245,900...49,278,057
Ensembl chr20:49,237,946...49,278,426
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 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 27
ClinVar
OMIM
PMID:18414213 PMID:23408766 PMID:24272827 PMID:24759409 PMID:25326635 More... NCBI chr12:13,537,337...13,982,012
Ensembl chr12:13,437,942...13,982,002
JBrowse link
G MBD5 methyl-CpG binding domain protein 5 IAGP ClinVar Annotator: match by term: developmental delay with intractable seizures ClinVar PMID:26467025 PMID:28492532 NCBI chr 2:148,021,011...148,516,971
Ensembl chr 2:148,021,011...148,516,971
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 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 28 ClinVar PMID:25741868 NCBI chr16:79,202,624...79,601,952
Ensembl chr16:79,585,843...79,600,737
JBrowse link
G NCF2 neutrophil cytosolic factor 2 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 28 ClinVar PMID:16937026 PMID:23821607 PMID:25741868 PMID:28492532 NCBI chr 1:183,555,562...183,590,914
Ensembl chr 1:183,555,562...183,590,876
JBrowse link
G WWOX WW domain containing oxidoreductase IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 28 ClinVar
OMIM
PMID:16199547 PMID:24456803 PMID:25411445 PMID:25558065 PMID:25741868 More... NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667
JBrowse link
G WWOX-AS1 WWOX antisense RNA 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 28 ClinVar PMID:25411445 NCBI chr16:78,230,135...78,242,608
Ensembl chr16:78,234,652...78,241,989
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 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 29 ClinVar
OMIM
PMID:25741868 PMID:25817015 PMID:28166811 PMID:28492532 PMID:28493438 More... NCBI chr16:70,252,295...70,289,509
Ensembl chr16:70,251,983...70,289,707
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 IAGP 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 chr11:790,475...798,281
Ensembl chr11:790,475...798,281
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 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr21:43,865,160...43,987,592
Ensembl chr21:43,865,223...43,987,592
JBrowse link
G CBS cystathionine beta-synthase IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr21:43,053,190...43,076,873
Ensembl chr21:43,053,191...43,076,943
JBrowse link
G CRYAA crystallin alpha A IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr21:43,169,008...43,172,810
Ensembl chr21:43,169,008...43,172,805
JBrowse link
G CSTB cystatin B IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr21:43,773,950...43,776,308
Ensembl chr21:43,772,511...43,776,330
JBrowse link
G GATD3 glutamine amidotransferase class 1 domain containing 3 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr21:44,133,665...44,145,711
Ensembl chr21:44,133,610...44,210,114
JBrowse link
G HSF2BP heat shock transcription factor 2 binding protein IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr21:43,453,987...43,659,499
Ensembl chr21:43,529,186...43,659,488
JBrowse link
G NDUFV3 NADH:ubiquinone oxidoreductase subunit V3 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr21:42,893,271...42,913,299
Ensembl chr21:42,879,644...42,913,304
JBrowse link
G PDE9A phosphodiesterase 9A IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr21:42,653,621...42,775,509
Ensembl chr21:42,653,621...42,775,509
JBrowse link
G PDXK pyridoxal kinase IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr21:43,719,129...43,762,299
Ensembl chr21:43,719,094...43,762,307
JBrowse link
G PKNOX1 PBX/knotted 1 homeobox 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr21:42,974,562...43,033,931
Ensembl chr21:42,974,510...43,033,931
JBrowse link
G PWP2 PWP2 small subunit processome component IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr21:44,107,323...44,131,181
Ensembl chr21:44,107,373...44,131,181
JBrowse link
G RRP1 ribosomal RNA processing 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr21:43,789,551...43,805,293
Ensembl chr21:43,789,513...43,805,293
JBrowse link
G RRP1B ribosomal RNA processing 1B IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr21:43,659,560...43,696,079
Ensembl chr21:43,659,560...43,696,079
JBrowse link
G RSPH1 radial spoke head component 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr21:42,472,486...42,496,246
Ensembl chr21:42,472,486...42,496,246
JBrowse link
G SIK1 salt inducible kinase 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:25741868 PMID:25839329 PMID:26467025 More... NCBI chr21:43,414,483...43,427,131
Ensembl chr21:43,414,483...43,427,131
JBrowse link
G SLC37A1 solute carrier family 37 member 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr21:42,499,622...42,581,436
Ensembl chr21:42,496,008...42,581,440
JBrowse link
G TRAPPC10 trafficking protein particle complex subunit 10 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr21:44,012,309...44,106,552
Ensembl chr21:44,012,309...44,106,552
JBrowse link
G U2AF1 U2 small nuclear RNA auxiliary factor 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr21:43,092,956...43,108,291
Ensembl chr21:43,092,956...43,107,570
JBrowse link
G WDR4 WD repeat domain 4 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr21:42,843,075...42,891,695
Ensembl chr21:42,843,094...42,879,568
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 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,866,480...127,885,542
Ensembl chr 9:127,866,486...127,877,675
JBrowse link
G ANGPTL2 angiopoietin like 2 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,087,348...127,122,684
Ensembl chr 9:127,087,348...127,122,635
JBrowse link
G BBLN bublin coiled coil protein IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:128,159,425...128,163,926
Ensembl chr 9:128,160,265...128,163,924
JBrowse link
G CDK9 cyclin dependent kinase 9 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,786,034...127,790,792
Ensembl chr 9:127,785,679...127,790,792
JBrowse link
G CFAP157 cilia and flagella associated protein 157 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,706,988...127,716,002
Ensembl chr 9:127,706,988...127,716,002
JBrowse link
G CIZ1 CDKN1A interacting zinc finger protein 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:8335685 PMID:10608808 PMID:11031245 PMID:11553700 PMID:18469812 More... NCBI chr 9:128,166,065...128,204,222
Ensembl chr 9:128,161,251...128,204,383
JBrowse link
G DNM1 dynamin 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 31
ClinVar
OMIM
PMID:8335685 PMID:9536098 PMID:10608808 PMID:11031245 PMID:11553700 More... NCBI chr 9:128,203,379...128,255,244
Ensembl chr 9:128,191,655...128,255,248
JBrowse link
G DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,935,099...127,937,854
Ensembl chr 9:127,935,099...127,937,854
JBrowse link
G ENG endoglin IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,815,012...127,854,773
Ensembl chr 9:127,815,013...127,854,658
JBrowse link
G FAM102A family with sequence similarity 102 member A IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,940,582...127,980,989
Ensembl chr 9:127,940,582...127,980,989
JBrowse link
G FPGS folylpolyglutamate synthase IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,802,858...127,814,520
Ensembl chr 9:127,794,597...127,814,327
JBrowse link
G GARNL3 GTPase activating Rap/RanGAP domain like 3 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,224,471...127,393,660
Ensembl chr 9:127,224,265...127,393,660
JBrowse link
G LCN2 lipocalin 2 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:128,149,453...128,153,453
Ensembl chr 9:128,149,071...128,153,453
JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032
JBrowse link
G LOC113839516 Sharpr-MPRA regulatory region 8497 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:128,218,750...128,219,044 JBrowse link
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,451,486...127,503,501
Ensembl chr 9:127,451,489...127,503,499
JBrowse link
G MIR199B microRNA 199b IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:128,244,721...128,244,830
Ensembl chr 9:128,244,721...128,244,830
JBrowse link
G MIR2861 microRNA 2861 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,785,918...127,786,007
Ensembl chr 9:127,785,918...127,786,007
JBrowse link
G MIR3154 microRNA 3154 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:28492532 NCBI chr 9:128,244,947...128,245,030
Ensembl chr 9:128,244,947...128,245,030
JBrowse link
G NAIF1 nuclear apoptosis inducing factor 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:128,061,233...128,067,867
Ensembl chr 9:128,061,233...128,068,206
JBrowse link
G NIBAN2 niban apoptosis regulator 2 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,505,339...127,579,031
Ensembl chr 9:127,505,339...127,578,989
JBrowse link
G PIP5KL1 phosphatidylinositol-4-phosphate 5-kinase like 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,920,881...127,931,958
Ensembl chr 9:127,920,881...127,930,785
JBrowse link
G PTGES2 prostaglandin E synthase 2 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:128,120,693...128,128,440
Ensembl chr 9:128,120,693...128,128,462
JBrowse link
G PTRH1 peptidyl-tRNA hydrolase 1 homolog IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,691,923...127,715,676
Ensembl chr 9:127,690,348...127,724,873
JBrowse link
G RALGPS1 Ral GEF with PH domain and SH3 binding motif 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:126,914,780...127,223,166
Ensembl chr 9:126,914,774...127,223,166
JBrowse link
G RPL12 ribosomal protein L12 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,447,674...127,451,406
Ensembl chr 9:127,447,674...127,451,406
JBrowse link
G SH2D3C SH2 domain containing 3C IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,738,317...127,778,666
Ensembl chr 9:127,738,317...127,778,710
JBrowse link
G SLC25A25 solute carrier family 25 member 25 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:128,068,200...128,109,245
Ensembl chr 9:128,068,201...128,109,245
JBrowse link
G SLC2A8 solute carrier family 2 member 8 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,397,140...127,407,898
Ensembl chr 9:127,397,138...127,408,424
JBrowse link
G ST6GALNAC4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,907,886...127,917,052
Ensembl chr 9:127,907,886...127,917,041
JBrowse link
G ST6GALNAC6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,885,321...127,906,764
Ensembl chr 9:127,885,321...127,905,408
JBrowse link
G STXBP1 syntaxin binding protein 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027
JBrowse link
G TOR2A torsin family 2 member A IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,731,524...127,735,328
Ensembl chr 9:127,731,524...127,735,313
JBrowse link
G TTC16 tetratricopeptide repeat domain 16 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,716,064...127,731,590
Ensembl chr 9:127,716,079...127,731,590
JBrowse link
G ZBTB34 zinc finger and BTB domain containing 34 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:126,860,639...126,885,878
Ensembl chr 9:126,860,665...126,885,878
JBrowse link
G ZBTB43 zinc finger and BTB domain containing 43 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:126,804,072...126,838,210
Ensembl chr 9:126,805,006...126,838,210
JBrowse link
G ZNF79 zinc finger protein 79 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,424,382...127,446,289
Ensembl chr 9:127,424,374...127,445,372
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 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 32 ClinVar
OMIM
PMID:8663992 PMID:8663993 PMID:15694325 PMID:16002579 PMID:18414213 More... NCBI chr 1:110,593,580...110,631,536
Ensembl chr 1:110,519,837...110,631,474
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 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,861,498...63,862,988
Ensembl chr20:63,861,498...63,862,988
JBrowse link
G ADRM1 ADRM1 26S proteasome ubiquitin receptor IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,302,061...62,308,862
Ensembl chr20:62,302,093...62,308,862
JBrowse link
G ARFGAP1 ADP ribosylation factor GTPase activating protein 1 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,272,813...63,289,790
Ensembl chr20:63,272,785...63,289,790
JBrowse link
G ARFRP1 ADP ribosylation factor related protein 1 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,698,647...63,707,976
Ensembl chr20:63,698,642...63,708,025
JBrowse link
G BHLHE23 basic helix-loop-helix family member e23 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,005,927...63,006,964
Ensembl chr20:63,005,927...63,007,035
JBrowse link
G BIRC7 baculoviral IAP repeat containing 7 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,235,905...63,240,495
Ensembl chr20:63,235,883...63,240,495
JBrowse link
G CABLES2 Cdk5 and Abl enzyme substrate 2 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,388,634...62,407,285
Ensembl chr20:62,388,632...62,407,285
JBrowse link
G CHRNA4 cholinergic receptor nicotinic alpha 4 subunit IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33
ClinVar PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 More... NCBI chr20:63,343,223...63,375,471
Ensembl chr20:63,343,223...63,378,401
JBrowse link
G COL20A1 collagen type XX alpha 1 chain IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,293,169...63,334,847
Ensembl chr20:63,293,186...63,334,851
JBrowse link
G COL9A3 collagen type IX alpha 3 chain IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,817,050...62,841,159
Ensembl chr20:62,816,244...62,841,159
JBrowse link
G DIDO1 death inducer-obliterator 1 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,877,743...62,937,933
Ensembl chr20:62,877,738...62,937,952
JBrowse link
G DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,895,126...63,936,026
Ensembl chr20:63,895,126...63,936,031
JBrowse link
G EEF1A2 eukaryotic translation elongation factor 1 alpha 2 IAGP ClinVar Annotator: match by term: 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
ClinVar
OMIM
PMID:3066688 PMID:9536098 PMID:14534157 PMID:17290276 PMID:17576681 More... NCBI chr20:63,488,014...63,499,083
Ensembl chr20:63,488,013...63,499,239
JBrowse link
G FNDC11 fibronectin type III domain containing 11 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,553,020...63,556,712
Ensembl chr20:63,547,891...63,556,695
JBrowse link
G GATA5 GATA binding protein 5 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,463,497...62,475,995
Ensembl chr20:62,463,497...62,475,995
JBrowse link
G GID8 GID complex subunit 8 homolog IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,938,147...62,948,475
Ensembl chr20:62,938,147...62,948,475
JBrowse link
G GMEB2 glucocorticoid modulatory element binding protein 2 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,587,602...63,627,101
Ensembl chr20:63,587,602...63,627,101
JBrowse link
G HAR1A highly accelerated region 1A IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,101,292...63,104,386
Ensembl chr20:63,102,205...63,104,386
JBrowse link
G HAR1B highly accelerated region 1B IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,095,493...63,102,319
Ensembl chr20:63,090,806...63,102,631
JBrowse link
G HELZ2 helicase with zinc finger 2 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,558,086...63,574,239
Ensembl chr20:63,558,086...63,574,239
JBrowse link
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33
ClinVar PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 More... NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,208...63,472,677
JBrowse link
G KCNQ2-AS1 KCNQ2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 ClinVar PMID:14534157 PMID:27441201 PMID:28492532 NCBI chr20:63,447,024...63,450,898 JBrowse link
G LAMA5 laminin subunit alpha 5 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,309,060...62,367,318
Ensembl chr20:62,307,955...62,367,312
JBrowse link
G LIME1 Lck interacting transmembrane adaptor 1 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,735,701...63,739,103
Ensembl chr20:63,736,283...63,739,103
JBrowse link
G MIR1-1 microRNA 1-1 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,554,306...62,554,376
Ensembl chr20:62,554,306...62,554,376
JBrowse link
G MIR1-1HG MIR1-1 host gene IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,550,453...62,570,764
Ensembl chr20:62,550,453...62,570,764
JBrowse link
G MIR133A2 microRNA 133a-2 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,564,912...62,565,013
Ensembl chr20:62,564,912...62,565,013
JBrowse link
G MRGBP MRG domain binding protein IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,796,473...62,801,729
Ensembl chr20:62,796,473...62,801,729
JBrowse link
G NKAIN4 sodium/potassium transporting ATPase interacting 4 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,240,780...63,256,406
Ensembl chr20:63,240,784...63,272,694
JBrowse link
G NTSR1 neurotensin receptor 1 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,708,770...62,762,771
Ensembl chr20:62,708,836...62,762,771
JBrowse link
G OGFR opioid growth factor receptor IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,804,835...62,814,000
Ensembl chr20:62,804,835...62,814,000
JBrowse link
G OSBPL2 oxysterol binding protein like 2 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,238,521...62,296,183
Ensembl chr20:62,231,922...62,296,213
JBrowse link
G PPDPF pancreatic progenitor cell differentiation and proliferation factor IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 ClinVar PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 More... NCBI chr20:63,520,741...63,522,206
Ensembl chr20:63,520,765...63,522,206
JBrowse link
G PRPF6 pre-mRNA processing factor 6 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,981,132...64,033,100
Ensembl chr20:63,981,132...64,033,100
JBrowse link
G PTK6 protein tyrosine kinase 6 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,528,001...63,537,376
Ensembl chr20:63,528,001...63,537,376
JBrowse link
G RBBP8NL RBBP8 N-terminal like IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,410,237...62,427,539
Ensembl chr20:62,410,237...62,427,539
JBrowse link
G RPS21 ribosomal protein S21 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,386,275...62,388,520
Ensembl chr20:62,387,103...62,388,520
JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253
JBrowse link
G SAMD10 sterile alpha motif domain containing 10 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,974,113...63,980,788
Ensembl chr20:63,974,116...63,980,008
JBrowse link
G SLC17A9 solute carrier family 17 member 9 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,952,690...62,969,585
Ensembl chr20:62,952,707...62,969,585
JBrowse link
G SLC2A4RG SLC2A4 regulator IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,739,776...63,744,050
Ensembl chr20:63,739,776...63,744,050
JBrowse link
G SLCO4A1 solute carrier organic anion transporter family member 4A1 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,642,058...62,690,722
Ensembl chr20:62,642,503...62,685,785
JBrowse link
G SRMS src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,538,489...63,547,749
Ensembl chr20:63,538,489...63,547,749
JBrowse link
G STMN3 stathmin 3 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,639,712...63,653,424
Ensembl chr20:63,639,705...63,657,682
JBrowse link
G TCFL5 transcription factor like 5 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,841,005...62,861,822
Ensembl chr20:62,841,005...62,861,822
JBrowse link
G TNFRSF6B TNF receptor superfamily member 6b IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,696,652...63,698,684
Ensembl chr20:63,696,652...63,698,684
JBrowse link
G TPD52L2 TPD52 like 2 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,865,247...63,891,538
Ensembl chr20:63,865,228...63,891,545
JBrowse link
G UCKL1 uridine-cytidine kinase 1 like 1 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,939,829...63,956,447
Ensembl chr20:63,939,829...63,956,416
JBrowse link
G YTHDF1 YTH N6-methyladenosine RNA binding protein 1 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,195,429...63,216,131
Ensembl chr20:63,195,429...63,216,139
JBrowse link
G ZBTB46 zinc finger and BTB domain containing 46 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,743,670...63,832,332
Ensembl chr20:63,743,668...63,832,038
JBrowse link
G ZGPAT zinc finger CCCH-type and G-patch domain containing IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,707,442...63,736,142
Ensembl chr20:63,707,465...63,736,142
JBrowse link
G ZNF512B zinc finger protein 512B IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,956,703...63,969,930
Ensembl chr20:63,956,704...63,969,930
JBrowse link
developmental and epileptic encephalopathy 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC113960611 Sharpr-MPRA regulatory region 3425 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 34 ClinVar PMID:25741868 PMID:28492532 NCBI chr20:46,057,330...46,057,624 JBrowse link
G SLC12A5 solute carrier family 12 member 5 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 34 ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24668262 PMID:24928908 More... NCBI chr20:46,021,686...46,060,150
Ensembl chr20:46,021,690...46,060,150
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 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 35
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35
ClinVar
OMIM
PMID:12384777 PMID:15973722 PMID:16431304 PMID:18616518 PMID:18662289 More... NCBI chr20:3,208,676...3,227,449
Ensembl chr20:3,208,868...3,223,870
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 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 36
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36
ClinVar Annotator: match by term: CDG Is
ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Is
ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:22492991 PMID:23033978 PMID:23934111 More... NCBI chr  X:111,680,741...111,764,164
Ensembl chr  X:111,665,811...111,760,649
JBrowse link
G DCX doublecortin IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 36 ClinVar PMID:28492532 NCBI chr  X:111,293,779...111,412,205
Ensembl chr  X:111,293,779...111,412,429
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 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 37 ClinVar PMID:28492532 NCBI chr 9:108,934,397...108,950,745
Ensembl chr 9:108,934,400...108,950,744
JBrowse link
G CTNNAL1 catenin alpha like 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 37 ClinVar PMID:28492532 NCBI chr 9:108,942,569...109,013,535
Ensembl chr 9:108,942,569...109,013,522
JBrowse link
G ELP1 elongator acetyltransferase complex subunit 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 37 ClinVar PMID:28492532 NCBI chr 9:108,867,517...108,934,135
Ensembl chr 9:108,866,898...108,934,328
JBrowse link
G FRRS1L ferric chelate reductase 1 like IAGP 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 9:109,130,293...109,167,249
Ensembl chr 9:109,130,293...109,167,249
JBrowse link
G MIR32 microRNA 32 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 37 ClinVar PMID:28492532 NCBI chr 9:109,046,229...109,046,298
Ensembl chr 9:109,046,229...109,046,298
JBrowse link
G TMEM245 transmembrane protein 245 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 37 ClinVar PMID:28492532 NCBI chr 9:109,015,135...109,119,963
Ensembl chr 9:109,015,135...109,119,947
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 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 38 ClinVar
OMIM
PMID:25558065 PMID:25741868 PMID:27270415 PMID:28492532 PMID:32165008 NCBI chr 1:230,979,082...231,000,733
Ensembl chr 1:230,978,981...231,000,733
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 IAGP ClinVar Annotator: match by term: Hypomyelination, global cerebral ClinVar
OMIM
PMID:19641205 PMID:24515575 PMID:24973975 PMID:25741868 PMID:28492532 NCBI chr 2:171,783,405...171,894,244
Ensembl chr 2:171,783,405...171,999,859
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 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 4 ClinVar PMID:25741868 NCBI chr  X:18,425,608...18,653,629
Ensembl chr  X:18,425,583...18,653,629
JBrowse link
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 4 ClinVar PMID:25741868 NCBI chr 9:127,451,486...127,503,501
Ensembl chr 9:127,451,489...127,503,499
JBrowse link
G NIBAN2 niban apoptosis regulator 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 4 ClinVar PMID:25741868 NCBI chr 9:127,505,339...127,579,031
Ensembl chr 9:127,505,339...127,578,989
JBrowse link
G STXBP1 syntaxin binding protein 1 IAGP DNA:deletions, nonsense mutation, splice-site mutations:exon, intron:multiple
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
ClinVar
OMIM
RGD
PMID:9536098 PMID:17576681 PMID:18414213 PMID:18469812 PMID:19557857 More... RGD:11068998, RGD:12903960 NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027
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 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 40 ClinVar
OMIM
PMID:25741868 PMID:26486472 NCBI chr 4:44,678,420...44,700,928
Ensembl chr 4:44,678,420...44,700,928
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 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 41 ClinVar
OMIM
PMID:23107647 PMID:23934111 PMID:24214974 PMID:25741868 PMID:27476654 More... NCBI chr11:35,251,205...35,420,058
Ensembl chr11:35,251,205...35,420,063
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 IAGP 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