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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)
Synonyms:primary_id: RDO:9002461
 alt_id: RDO:9002708
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Autosomal Recessive Infantile Epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TNK2 tyrosine kinase non receptor 2 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 PMID:22131361 PMID:22209761 PMID:22243967 PMID:22399141 PMID:22623405 PMID:22744660 PMID:22782515 PMID:22832103 PMID:22845787 PMID:22870186 PMID:22875091 PMID:22877996 PMID:22895590 PMID:22985072 PMID:23077016 PMID:23077017 PMID:23077024 PMID:23077026 PMID:23126439 PMID:23180180 PMID:23182655 PMID:23299620 PMID:23343561 PMID:23532549 PMID:23535490 PMID:23768507 PMID:23771590 PMID:24074546 PMID:24370076 PMID:24609974 PMID:24661410 PMID:24755245 PMID:25457817 PMID:25502464 PMID:25522171 PMID:25595153 PMID:25667652 PMID:25741868 PMID:25915028 PMID:26384010 PMID:26446061 PMID:26467025 PMID:26544041 PMID:26561923 PMID:26598493 PMID:26598494 PMID:26621826 PMID:26717662 PMID:26876767 PMID:26993267 PMID:27123484 PMID:28074849 PMID:28492532 PMID:29334453 PMID:30980674 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 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
PMID:3508699 PMID:6660252 PMID:11326335 PMID:11371648 PMID:11738931 PMID:12243921 PMID:12610651 PMID:15048894 PMID:15301839 PMID:15316014 PMID:16884893 PMID:17021166 PMID:18414213 PMID:18479388 PMID:19702560 PMID:19786696 PMID:20371507 PMID:20956790 PMID:21416599 PMID:21692795 PMID:21893419 PMID:22029951 PMID:22495306 PMID:22581653 PMID:22591750 PMID:23016767 PMID:23020937 PMID:23184456 PMID:23360469 PMID:23550958 PMID:23758435 PMID:23849776 PMID:23934111 PMID:23935176 PMID:24579881 PMID:24650168 PMID:24848745 PMID:25326635 PMID:25326637 PMID:25348405 PMID:25741868 PMID:25772804 PMID:25818041 PMID:25937001 PMID:26068938 PMID:26350204 PMID:26467025 PMID:26637798 PMID:26645390 PMID:26648591 PMID:26993267 PMID:27153334 PMID:27159988 PMID:27290639 PMID:27328862 PMID:27779742 PMID:27781031 PMID:27824329 PMID:27854218 PMID:27867041 PMID:28065826 PMID:28087622 PMID:28379373 PMID:28492532 PMID:28554332 PMID:28628100 PMID:28708303 PMID:28867142 PMID:29100083 PMID:29186148 PMID:29215089 PMID:29358611 PMID:29625812 PMID:29655203 PMID:30564305 PMID:30619928 PMID:32860008, PMID:16417554 RGD:13207596 NCBI chr 2:165,208,056...165,392,310
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:21416599 PMID:21692795 PMID:21893419 PMID:23016767 PMID:23184456 PMID:26068938 PMID:27153334 PMID:28492532 NCBI chr 2:165,087,526...165,204,295
Ensembl chr 2:165,087,526...165,204,050
Ensembl chr 2:165,087,526...165,204,050
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 PMID:28135719 PMID:28492532 PMID:28628100 PMID:29655203 PMID:30578330 PMID:31177578 PMID:31238879 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
OMIM
PMID:18414213 PMID:25741868 PMID:26677014 PMID:27210545 PMID:28492532 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 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 chr20:63,400,210...63,472,677
Ensembl chr20:63,400,210...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:14534157 PMID:16235065 PMID:17765802 PMID:18249525 PMID:18354422 PMID:18625963 PMID:19344764 PMID:21687499 PMID:21703448 PMID:23020937 PMID:23146207 PMID:23360469 PMID:23596459 PMID:23934111 PMID:24375629 PMID:25052858 PMID:25278462 PMID:25740509 PMID:25741868 PMID:26350515 PMID:26467025 PMID:28135719 PMID:28492532 PMID:28628100 PMID:29358611 PMID:29383681 PMID:29655203 PMID:30578330 PMID:31177578 PMID:31238879 NCBI chr 8:132,120,858...132,481,095
Ensembl chr 8:132,120,859...132,481,095
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 infantile convulsions
ClinVar Annotator: match by term: Benign familial neonatal seizures
ClinVar PMID:11738931 PMID:15048894 PMID:18414213 PMID:18479388 PMID:19702560 PMID:20956790 PMID:22029951 PMID:22581653 PMID:22591750 PMID:23550958 PMID:23849776 PMID:23934111 PMID:23935176 PMID:24579881 PMID:25326635 PMID:25326637 PMID:25741868 PMID:25772804 PMID:25818041 PMID:25937001 PMID:26467025 PMID:26645390 PMID:26648591 PMID:26993267 PMID:27159988 PMID:27328862 PMID:27781031 PMID:27824329 PMID:27867041 PMID:28065826 PMID:28087622 PMID:28379373 PMID:28492532 PMID:28628100 PMID:28708303 PMID:29186148 PMID:32860008 NCBI chr 2:165,208,056...165,392,310
Ensembl chr 2:165,194,993...165,392,310
JBrowse link
Benign Familial Neonatal Seizures, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 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:3360469 PMID:7980108 PMID:9425895 PMID:9430594 PMID:9872318 PMID:10323247 PMID:10482260 PMID:10774989 PMID:11175290 PMID:11572947 PMID:11690625 PMID:11784811 PMID:12754513 PMID:12847176 PMID:14534157 PMID:14669214 PMID:14985406 PMID:15030501 PMID:15178210 PMID:15249611 PMID:15596769 PMID:16039833 PMID:16260777 PMID:16319223 PMID:16686649 PMID:16691402 PMID:16916607 PMID:16966552 PMID:17129708 PMID:17475800 PMID:17675531 PMID:17872363 PMID:17993630 PMID:18006581 PMID:18246739 PMID:18353052 PMID:18414213 PMID:18483067 PMID:18515377 PMID:19344764 PMID:19380078 PMID:19453707 PMID:19559753 PMID:19818940 PMID:20119593 PMID:21913284 PMID:21937445 PMID:22169383 PMID:22275249 PMID:22455920 PMID:22926866 PMID:23290024 PMID:23360469 PMID:23440208 PMID:23621294 PMID:23692823 PMID:23708187 PMID:23934111 PMID:24107868 PMID:24318194 PMID:24375629 PMID:24586341 PMID:25046240 PMID:25262651 PMID:25326635 PMID:25740509 PMID:25741868 PMID:25880994 PMID:25959266 PMID:25960349 PMID:25982755 PMID:26007637 PMID:26073431 PMID:26138355 PMID:26467025 PMID:26544041 PMID:26704558 PMID:26993267 PMID:27334371 PMID:27535030 PMID:27602407 PMID:27779742 PMID:27861786 PMID:27864847 PMID:27888506 PMID:28133863 PMID:28139826 PMID:28399683 PMID:28492532 PMID:28628100 PMID:28687180 PMID:28717674 PMID:28867141 PMID:28973083 PMID:29056246 PMID:29186148 PMID:29190809 PMID:29215089 PMID:29263209 PMID:29390993 PMID:29429461 PMID:29655203 PMID:29933521 PMID:30126342 PMID:30185235 PMID:31152295 PMID:31199083 PMID:32860008 NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,210...63,472,677
Ensembl chr20:63,400,210...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 PMID:31199083 NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,210...63,472,677
Ensembl chr20:63,400,210...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
PMID:1859177 PMID:9425900 PMID:10852552 PMID:14534157 PMID:16235065 PMID:17765802 PMID:18249525 PMID:18354422 PMID:18625963 PMID:19344764 PMID:21687499 PMID:21703448 PMID:23020937 PMID:23146207 PMID:23596459 PMID:23934111 PMID:24375629 PMID:25740509 PMID:25741868 PMID:26350515 PMID:26467025 PMID:28135719 PMID:28492532 PMID:28628100 PMID:29358611 PMID:29655203 PMID:30578330 PMID:31177578 PMID:31238879, PMID:9425900, PMID:10852552 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 chr20:63,400,210...63,472,677
Ensembl chr20:63,400,210...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:16916607 PMID:22275249 PMID:22926866 PMID:23621294 PMID:23692823 PMID:25741868 PMID:25959266 PMID:26544041 PMID:27535030 PMID:27602407 PMID:27779742 PMID:28492532 PMID:30185235 NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,210...63,472,677
Ensembl chr20:63,400,210...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:16491085 PMID:20554659 PMID:21733724 PMID:25741868 PMID:28492532 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 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 chr20:63,400,210...63,472,677
Ensembl chr20:63,400,210...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 PMID:23596459 PMID:25741868 PMID:26467025 PMID:28492532 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 PMID:21880868 PMID:25741868 PMID:28492532 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
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:15048894 PMID:18414213 PMID:18479388 PMID:19702560 PMID:20956790 PMID:22029951 PMID:22581653 PMID:22591750 PMID:23550958 PMID:23849776 PMID:23934111 PMID:23935176 PMID:24579881 PMID:25326635 PMID:25326637 PMID:25741868 PMID:25772804 PMID:25818041 PMID:25937001 PMID:26467025 PMID:26645390 PMID:26648591 PMID:26993267 PMID:27159988 PMID:27328862 PMID:27781031 PMID:27824329 PMID:27867041 PMID:28065826 PMID:28087622 PMID:28379373 PMID:28492532 PMID:28628100 PMID:28708303 PMID:29186148 PMID:32860008 NCBI chr 2:165,208,056...165,392,310
Ensembl chr 2:165,194,993...165,392,310
JBrowse link
congenital disorder of glycosylation type IIm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC120 coiled-coil domain containing 120 IAGP ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:49,053,572...49,069,858
Ensembl chr  X:49,053,572...49,069,857
JBrowse link
G ERAS ES cell expressed Ras IAGP ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:48,826,513...48,829,869
Ensembl chr  X:48,826,513...48,830,138
JBrowse link
G GATA1 GATA binding protein 1 IAGP ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,562...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 PMID:28492532 NCBI chr  X:48,761,747...48,773,648
Ensembl chr  X:48,761,747...48,773,648
JBrowse link
G GRIPAP1 GRIP1 associated protein 1 IAGP ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm 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 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 PMID:28492532 NCBI chr  X:48,960,983...48,972,103
Ensembl chr  X:48,961,378...48,971,844
JBrowse link
G OTUD5 OTU deubiquitinase 5 IAGP ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:48,922,024...48,960,783
Ensembl chr  X:48,922,028...48,958,386
Ensembl chr  X:48,922,028...48,958,386
JBrowse link
G PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor IAGP ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm 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 PMID:28492532 NCBI chr  X:48,913,182...48,919,024
Ensembl chr  X:48,913,182...48,919,024
JBrowse link
G PQBP1 polyglutamine binding protein 1 IAGP ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm 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 PMID:28492532 NCBI chr  X:49,071,161...49,074,002
Ensembl chr  X:49,071,161...49,074,002
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:25741868 PMID:26350515 PMID:26467025 PMID:28492532 PMID:28771251 PMID:29907092 PMID:30817854 NCBI chr  X:48,903,183...48,911,958
Ensembl chr  X:48,903,180...48,911,958
JBrowse link
G SUV39H1 suppressor of variegation 3-9 homolog 1 IAGP ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:48,695,554...48,709,016
Ensembl chr  X:48,695,554...48,709,012
Ensembl chr  X:48,695,554...48,709,012
JBrowse link
G TFE3 transcription factor binding to IGHM enhancer 3 IAGP ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm 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 PMID:28492532 NCBI chr  X:48,893,447...48,898,143
Ensembl chr  X:48,893,447...48,898,143
JBrowse link
G WAS WASP actin nucleation promoting factor IAGP ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:48,683,753...48,691,427
Ensembl chr  X:48,676,596...48,691,427
JBrowse link
G WDR45 WD repeat domain 45 IAGP ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm 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 89 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GAD1 glutamate decarboxylase 1 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 OMIM
ClinVar
PMID:32282878 NCBI chr 2:170,813,210...170,861,151
Ensembl chr 2:170,813,213...170,861,151
JBrowse link
Dravet syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 IAGP ClinVar Annotator: match by term: Dravet syndrome ClinVar NCBI chr 5:162,067,465...162,155,539
Ensembl chr 5:162,000,057...162,162,977
JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP ClinVar Annotator: match by term: Dravet syndrome
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar
OMIM
PMID:1868258 PMID:1893099 PMID:10486327 PMID:10521305 PMID:10742094 PMID:11118488 PMID:11254444 PMID:11254445 PMID:11359211 PMID:11567038 PMID:11940708 PMID:12083760 PMID:12086636 PMID:12566275 PMID:12610651 PMID:12754708 PMID:12821740 PMID:12919402 PMID:14504318 PMID:14672992 PMID:14702334 PMID:14738421 PMID:15263074 PMID:15277629 PMID:15508916 PMID:16458823 PMID:16505326 PMID:16541393 PMID:16713913 PMID:16713920 PMID:17000989 PMID:17054684 PMID:17054685 PMID:17166794 PMID:17347258 PMID:17561957 PMID:17903680 PMID:18021921 PMID:18031552 PMID:18056581 PMID:18076640 PMID:18413471 PMID:18414213 PMID:18554359 PMID:18680191 PMID:18804930 PMID:18930999 PMID:19200853 PMID:19236456 PMID:19359143 PMID:19522081 PMID:19563458 PMID:19585586 PMID:19589774 PMID:19673951 PMID:19782004 PMID:19809937 PMID:20100831 PMID:20110217 PMID:20301494 PMID:20431604 PMID:20452746 PMID:20491869 PMID:20522430 PMID:20550552 PMID:20562086 PMID:20729507 PMID:20831750 PMID:20879882 PMID:21248271 PMID:21371021 PMID:21396429 PMID:21425109 PMID:21555645 PMID:21703448 PMID:21713554 PMID:21719429 PMID:21753172 PMID:21864321 PMID:21868258 PMID:21906962 PMID:22050978 PMID:22071555 PMID:22140375 PMID:22147323 PMID:22150645 PMID:22151702 PMID:22409937 PMID:22550089 PMID:22612257 PMID:22780858 PMID:22848613 PMID:23086956 PMID:23195492 PMID:23398611 PMID:23527921 PMID:23662938 PMID:23762420 PMID:23808377 PMID:23821540 PMID:23884151 PMID:23895530 PMID:23934111 PMID:24066114 PMID:24136861 PMID:24168886 PMID:24328833 PMID:24679980 PMID:24776920 PMID:25243660 PMID:25326635 PMID:25348405 PMID:25378155 PMID:25401298 PMID:25459968 PMID:25669891 PMID:25741868 PMID:25741869 PMID:25818041 PMID:25885068 PMID:26096185 PMID:26169758 PMID:26188943 PMID:26467025 PMID:26544041 PMID:26845707 PMID:26990884 PMID:26993267 PMID:27113213 PMID:27231140 PMID:27236449 PMID:27267376 PMID:27465585 PMID:27781031 PMID:27864847 PMID:28079314 PMID:28102150 PMID:28148630 PMID:28192756 PMID:28202706 PMID:28492532 PMID:28544625 PMID:28708303 PMID:29100083 PMID:29141279 PMID:29358611 PMID:29460957 PMID:29760947 PMID:29852413 PMID:30146492 PMID:30311386 PMID:30321769 PMID:30525188 PMID:30619928 PMID:30659983 PMID:31102827 PMID:31791873 PMID:32238909 PMID:32488064 PMID:32581362 NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214
JBrowse link
G SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 IAGP ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar Annotator: match by term: Dravet syndrome
ClinVar PMID:1868258 PMID:10486327 PMID:10742094 PMID:11118488 PMID:11254444 PMID:11254445 PMID:11359211 PMID:11940708 PMID:12083760 PMID:12086636 PMID:12566275 PMID:12754708 PMID:12821740 PMID:12919402 PMID:14504318 PMID:14702334 PMID:14738421 PMID:15263074 PMID:16713920 PMID:17054684 PMID:17347258 PMID:17561957 PMID:17903680 PMID:18021921 PMID:18031552 PMID:18056581 PMID:18076640 PMID:18413471 PMID:18414213 PMID:18554359 PMID:18680191 PMID:18804930 PMID:18930999 PMID:19359143 PMID:19522081 PMID:19563458 PMID:19589774 PMID:19673951 PMID:19809937 PMID:20100831 PMID:20301494 PMID:20431604 PMID:20452746 PMID:20522430 PMID:20729507 PMID:20831750 PMID:21248271 PMID:21396429 PMID:21425109 PMID:21555645 PMID:21713554 PMID:21719429 PMID:21868258 PMID:21906962 PMID:22071555 PMID:22140375 PMID:22409937 PMID:22550089 PMID:22780858 PMID:23086956 PMID:23195492 PMID:23398611 PMID:23527921 PMID:23762420 PMID:23808377 PMID:23884151 PMID:23934111 PMID:24066114 PMID:24136861 PMID:24168886 PMID:24328833 PMID:24679980 PMID:25326635 PMID:25348405 PMID:25378155 PMID:25459968 PMID:25741868 PMID:25818041 PMID:26096185 PMID:26169758 PMID:26188943 PMID:26467025 PMID:26544041 PMID:26990884 PMID:26993267 PMID:27267376 PMID:27465585 PMID:27781031 PMID:27864847 PMID:28102150 PMID:28202706 PMID:28492532 PMID:28708303 PMID:29141279 PMID:29358611 PMID:29460957 PMID:29760947 PMID:30321769 PMID:30525188 PMID:30619928 PMID:30659983 PMID:32238909 PMID:32488064 PMID:32581362 NCBI chr 2:165,957,418...166,036,400
Ensembl chr 2:165,957,188...166,390,771
JBrowse link
G SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 IAGP ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:21698661 PMID:23895530 PMID:25250524 PMID:25741868 PMID:26467025 PMID:28235406 PMID:28440294 PMID:28492532 PMID:29264398 NCBI chr 2:166,081,531...166,301,784
Ensembl chr 2:165,957,188...166,390,771
JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 IAGP ClinVar Annotator: match by term: Dravet syndrome
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar PMID:21698661 PMID:23895530 PMID:25250524 PMID:25741868 PMID:26467025 PMID:28235406 PMID:28440294 PMID:28492532 PMID:29264398 NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001
JBrowse link
G SNX27 sorting nexin 27 IAGP ClinVar Annotator: match by term: Dravet syndrome
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar PMID:28492532 NCBI chr 1:151,612,027...151,699,080
Ensembl chr 1:151,612,006...151,699,091
JBrowse link
early infantile epileptic encephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD16B abhydrolase domain containing 16B IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr20:63,861,498...63,862,988
Ensembl chr20:63,861,498...63,862,988
JBrowse link
G AK1 adenylate kinase 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:127,866,480...127,885,542
Ensembl chr 9:127,866,486...127,877,675
JBrowse link
G AL162586.1 novel transcript IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:127,816,066...127,822,520
Ensembl chr 9:127,816,066...127,822,520
JBrowse link
G ARFRP1 ADP ribosylation factor related protein 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr20:63,698,647...63,707,976
Ensembl chr20:63,698,642...63,708,025
JBrowse link
G ARHGEF15 Rho guanine nucleotide exchange factor 15 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:23647072 PMID:25741868 PMID:28492532 NCBI chr17:8,310,241...8,322,516
Ensembl chr17:8,310,241...8,322,514
JBrowse link
G ARX aristaless related homeobox ISS OMIM:300088 | OMIM:300607 | OMIM:300672 | OMIM:308350 | OMIM:609304 | OMIM:612164 | OMIM:613402 | OMIM:613477 | OMIM:613720 | OMIM:613721 | OMIM:613722 | OMIM:614558 | OMIM:614959 | OMIM:615006 | OMIM:615338 | OMIM:615473 | OMIM:615476 MouseDO NCBI chr  X:25,003,694...25,015,965
Ensembl chr  X:25,003,694...25,016,420
JBrowse link
G BBLN bublin coiled coil protein IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:128,159,425...128,163,926
Ensembl chr 9:128,160,265...128,163,924
JBrowse link
G CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18487195 PMID:23339110 PMID:24358150 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30410802 NCBI chr 3:50,362,613...50,504,244
Ensembl chr 3:50,362,799...50,504,244
Ensembl chr 3:50,362,799...50,504,244
JBrowse link
G CDHR5 cadherin related family member 5 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:616,583...624,967
Ensembl chr11:616,577...626,078
Ensembl chr11:616,577...626,078
JBrowse link
G CDK9 cyclin dependent kinase 9 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:127,786,034...127,790,792
Ensembl chr 9:127,785,679...127,790,792
JBrowse link
G CEND1 cell cycle exit and neuronal differentiation 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:787,115...790,090
Ensembl chr11:787,115...790,113
JBrowse link
G CERCAM cerebral endothelial cell adhesion molecule IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:128,405,994...128,437,351
Ensembl chr 9:128,411,751...128,437,351
JBrowse link
G CFAP157 cilia and flagella associated protein 157 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:127,706,988...127,716,002
Ensembl chr 9:127,706,988...127,716,002
JBrowse link
G CHRNA4 cholinergic receptor nicotinic alpha 4 subunit IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr20:63,343,223...63,375,471
Ensembl chr20:63,343,223...63,378,401
JBrowse link
G CIZ1 CDKN1A interacting zinc finger protein 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:128,166,065...128,204,222
Ensembl chr 9:128,161,251...128,204,383
JBrowse link
G COQ4 coenzyme Q4 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:128,322,486...128,334,072
Ensembl chr 9:128,322,544...128,334,072
JBrowse link
G CSRNP3 cysteine and serine rich nuclear protein 3 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28492532 NCBI chr 2:165,469,680...165,689,407
Ensembl chr 2:165,469,647...165,689,407
JBrowse link
G CYB561D2 cytochrome b561 family member D2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18487195 PMID:23339110 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:50,350,862...50,368,197
Ensembl chr 3:50,350,845...50,358,460
Ensembl chr 3:50,350,845...50,358,460
Ensembl chr 3:50,350,845...50,358,460
JBrowse link
G DEAF1 DEAF1 transcription factor IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:644,220...707,083
Ensembl chr11:644,233...706,715
JBrowse link
G DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr20:63,895,126...63,936,026
Ensembl chr20:63,895,126...63,936,031
JBrowse link
G DNM1 dynamin 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 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: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:127,935,099...127,937,854
Ensembl chr 9:127,935,099...127,937,854
Ensembl chr 9:127,935,099...127,937,854
JBrowse link
G DRD4 dopamine receptor D4 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:637,269...640,706
Ensembl chr11:637,269...640,706
JBrowse link
G EEF1A2 eukaryotic translation elongation factor 1 alpha 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr20:63,488,014...63,499,083
Ensembl chr20:63,488,013...63,499,239
Ensembl chr20:63,488,013...63,499,239
JBrowse link
G ENG endoglin IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:127,815,012...127,854,773
Ensembl chr 9:127,815,013...127,854,658
Ensembl chr 9:127,815,013...127,854,658
JBrowse link
G EPS8L2 EPS8 like 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:706,202...727,727
Ensembl chr11:694,438...727,727
JBrowse link
G FAM102A family with sequence similarity 102 member A IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:127,940,582...127,980,989
Ensembl chr 9:127,940,582...127,980,989
JBrowse link
G FNDC11 fibronectin type III domain containing 11 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr20:63,553,020...63,556,712
Ensembl chr20:63,547,891...63,556,695
JBrowse link
G FPGS folylpolyglutamate synthase IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:127,802,858...127,814,520
Ensembl chr 9:127,794,597...127,814,327
JBrowse link
G GABRA2 gamma-aminobutyric acid type A receptor subunit alpha2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:29422393 NCBI chr 4:46,243,548...46,390,300
Ensembl chr 4:46,243,548...46,475,230
Ensembl chr 4:46,243,548...46,475,230
JBrowse link
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28492532 NCBI chr 2:165,747,588...165,796,352
Ensembl chr 2:165,747,588...165,794,659
JBrowse link
G GATD1 glutamine amidotransferase like class 1 domain containing 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:767,095...777,501
Ensembl chr11:767,220...777,488
JBrowse link
G GLE1 GLE1 RNA export mediator IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:128,504,692...128,542,292
Ensembl chr 9:128,504,700...128,542,288
Ensembl chr 9:128,504,700...128,542,288
JBrowse link
G GMEB2 glucocorticoid modulatory element binding protein 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr20:63,587,602...63,627,101
Ensembl chr20:63,587,602...63,627,101
JBrowse link
G GNAO1 G protein subunit alpha o1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:23993195 PMID:25741868 PMID:25966631 PMID:26060304 PMID:26467025 PMID:26485252 PMID:27068059 PMID:27072799 PMID:27625011 PMID:27864847 PMID:28202424 PMID:28357411 PMID:28492532 PMID:28688840 PMID:28747448 PMID:28817111 PMID:29390993 PMID:32581362 NCBI chr16:56,191,489...56,357,444
Ensembl chr16:56,191,390...56,357,444
Ensembl chr16:56,191,390...56,357,444
JBrowse link
G GNAO1-AS1 GNAO1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:26467025 PMID:28492532 NCBI chr16:56,192,617...56,194,525
Ensembl chr16:56,192,614...56,194,518
JBrowse link
G GOLGA2 golgin A2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:128,255,829...128,276,000
Ensembl chr 9:128,255,829...128,275,995
JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:25741868 PMID:31422819 NCBI chr16:58,707,131...58,734,316
Ensembl chr16:58,707,131...58,734,342
JBrowse link
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:20437590 PMID:22131395 PMID:24747641 PMID:25678871 PMID:25741868 PMID:26073591 PMID:26467025 PMID:28488083 PMID:28492532 NCBI chr 5:45,254,948...45,696,380
Ensembl chr 5:45,254,948...45,696,498
JBrowse link
G HELZ2 helicase with zinc finger 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr20:63,558,086...63,574,239
Ensembl chr20:63,558,086...63,574,239
JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,287
JBrowse link
G IRF7 interferon regulatory factor 7 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:612,555...615,999
Ensembl chr11:612,553...615,983
JBrowse link
G KCNB1 potassium voltage-gated channel subfamily B member 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy
ClinVar Annotator: match by term: developmental encephalopathy with epilepsy
ClinVar PMID:25741868 PMID:26477325 PMID:28252636 PMID:28492532 PMID:28806457 PMID:29264397 PMID:32581362 NCBI chr20:49,363,877...49,484,033
Ensembl chr20:49,293,394...49,484,297
JBrowse link
G KCNH5 potassium voltage-gated channel subfamily H member 5 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:23647072 PMID:24133262 PMID:25741868 PMID:28492532 NCBI chr14:62,699,464...63,045,458
Ensembl chr14:62,699,464...63,102,037
JBrowse link
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 IAGP ClinVar Annotator: match by term: Ohtahara syndrome
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar PMID:3360469 PMID:9425895 PMID:9872318 PMID:10482260 PMID:11175290 PMID:11572947 PMID:11690625 PMID:11784811 PMID:12742592 PMID:12754513 PMID:14534157 PMID:14985406 PMID:15596469 PMID:16039833 PMID:16597729 PMID:16916607 PMID:17475800 PMID:17872363 PMID:18353052 PMID:18414213 PMID:18483067 PMID:18515377 PMID:19344764 PMID:19380078 PMID:19453707 PMID:19559753 PMID:19822871 PMID:20119593 PMID:21685056 PMID:21937445 PMID:22013194 PMID:22169383 PMID:22275249 PMID:22455920 PMID:22926866 PMID:23360469 PMID:23440208 PMID:23621294 PMID:23692823 PMID:23708187 PMID:23934111 PMID:24107868 PMID:24318194 PMID:24371303 PMID:24375629 PMID:24463883 PMID:24586341 PMID:24759409 PMID:24811917 PMID:24904429 PMID:25052858 PMID:25262651 PMID:25326635 PMID:25473036 PMID:25533962 PMID:25590979 PMID:25740509 PMID:25741868 PMID:25818041 PMID:25880994 PMID:25951140 PMID:25959266 PMID:25982755 PMID:26007637 PMID:26073431 PMID:26138355 PMID:26148514 PMID:26446091 PMID:26467025 PMID:26544041 PMID:26704558 PMID:26758118 PMID:26993267 PMID:27334371 PMID:27466704 PMID:27535030 PMID:27602407 PMID:27779742 PMID:27781031 PMID:27861786 PMID:27864847 PMID:27888506 PMID:28133863 PMID:28139826 PMID:28283543 PMID:28399683 PMID:28420012 PMID:28492532 PMID:28602030 PMID:28687180 PMID:28717674 PMID:28867141 PMID:28926830 PMID:28973083 PMID:29056246 PMID:29186148 PMID:29190809 PMID:29215089 PMID:29263209 PMID:29314763 PMID:29390993 PMID:29429461 PMID:29644095 PMID:29655203 PMID:29720203 PMID:29933521 PMID:30109124 PMID:30126342 PMID:30174244 PMID:30185235 PMID:30478917 PMID:31152295 PMID:31199083 PMID:32488064 PMID:32581362 PMID:32860008 NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,210...63,472,677
Ensembl chr20:63,400,210...63,472,677
JBrowse link
G KCNQ2-AS1 KCNQ2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:28492532 NCBI chr20:63,447,024...63,450,898 JBrowse link
G LCN2 lipocalin 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:128,149,453...128,153,453
Ensembl chr 9:128,149,071...128,153,453
JBrowse link
G LIME1 Lck interacting transmembrane adaptor 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr20:63,735,701...63,739,103
Ensembl chr20:63,736,283...63,739,103
JBrowse link
G LMNTD2 lamin tail domain containing 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:554,850...560,780
Ensembl chr11:554,850...560,738
JBrowse link
G LMNTD2-AS1 LMNTD2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:559,262...560,107
Ensembl chr11:557,595...560,107
JBrowse link
G LOC100506124 uncharacterized LOC100506124 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21719429 PMID:23016767 PMID:25524840 PMID:26068938 PMID:28492532 NCBI chr 2:165,857,475...165,871,941 JBrowse link
G LOC106783495 conserved acetylation island sequence 15 enhancer IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:127,980,006...127,980,137 JBrowse link
G LOC113839510 Sharpr-MPRA regulatory region 4083 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:127,741,950...127,742,244 JBrowse link
G LOC113839511 Sharpr-MPRA regulatory region 7866 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:127,785,870...127,786,164 JBrowse link
G LOC113839512 Sharpr-MPRA regulatory region 2041 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:127,786,290...127,786,584 JBrowse link
G LOC113839513 Sharpr-MPRA regulatory region 6856 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:127,965,530...127,965,824 JBrowse link
G LOC113839514 Sharpr-MPRA regulatory region 5179 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:128,048,630...128,048,924 JBrowse link
G LOC113839515 Sharpr-MPRA regulatory region 4689 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:128,115,590...128,115,884 JBrowse link
G LOC113839516 Sharpr-MPRA regulatory region 8497 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:128,218,750...128,219,044 JBrowse link
G LOC113839517 Sharpr-MPRA regulatory region 14380 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:128,307,250...128,307,544 JBrowse link
G LOC113839524 Sharpr-MPRA regulatory region 9551 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:128,495,830...128,496,124 JBrowse link
G LOC114803470 SCN8A eExon liver enhancer IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr12:51,662,737...51,663,319 JBrowse link
G LOC114827831 VISTA enhancer hs2342 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:127,661,222...127,662,040 JBrowse link
G LOC116216099 CRISPRi-validated cis-regulatory element chr9.2869 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:127,862,062...127,863,104 JBrowse link
G LOC116216100 CRISPRi-validated cis-regulatory element chr9.2942 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:128,142,126...128,142,299 JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:518,967...554,916
Ensembl chr11:537,527...554,912
JBrowse link
G MIR199B microRNA 199b IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:128,244,721...128,244,830
Ensembl chr 9:128,244,721...128,244,830
JBrowse link
G MIR210 microRNA 210 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:568,089...568,198
Ensembl chr11:568,089...568,198
JBrowse link
G MIR210HG MIR210 host gene IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:565,657...568,457
Ensembl chr11:565,660...568,457
JBrowse link
G MIR219A2 microRNA 219a-2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:128,392,618...128,392,714
Ensembl chr 9:128,392,618...128,392,714
JBrowse link
G MIR219B microRNA 219b IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:128,392,621...128,392,708
Ensembl chr 9:128,392,621...128,392,708
JBrowse link
G MIR2861 microRNA 2861 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 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: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:128,244,947...128,245,030
Ensembl chr 9:128,244,947...128,245,030
JBrowse link
G MIR3911 microRNA 3911 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:127,690,687...127,690,795
Ensembl chr 9:127,690,687...127,690,795
JBrowse link
G MIR3960 microRNA 3960 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:127,785,833...127,785,923
Ensembl chr 9:127,785,833...127,785,923
JBrowse link
G MIR4672 microRNA 4672 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:127,869,415...127,869,495
Ensembl chr 9:127,869,415...127,869,495
JBrowse link
G NAIF1 nuclear apoptosis inducing factor 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:128,061,233...128,067,867
Ensembl chr 9:128,061,233...128,068,206
JBrowse link
G NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24033266 PMID:25741868 PMID:27545674 PMID:27545681 PMID:27926783 PMID:28492532 PMID:28965491 PMID:29286531 NCBI chr 3:132,558,138...132,722,459
Ensembl chr 3:132,558,142...132,722,459
JBrowse link
G ODF2 outer dense fiber of sperm tails 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:128,455,185...128,501,292
Ensembl chr 9:128,455,186...128,501,292
JBrowse link
G ODF2-AS1 ODF2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:128,468,925...128,473,012
Ensembl chr 9:128,468,957...128,473,012
JBrowse link
G PHRF1 PHD and ring finger domains 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:576,446...612,222
Ensembl chr11:576,470...612,222
JBrowse link
G PIGP phosphatidylinositol glycan anchor biosynthesis class P IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28334793 PMID:31139695 PMID:32042915 NCBI chr21:37,065,364...37,073,071
Ensembl chr21:37,059,170...37,073,170
Ensembl chr21:37,059,170...37,073,170
JBrowse link
G PIP5KL1 phosphatidylinositol-4-phosphate 5-kinase like 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:127,920,881...127,931,958
Ensembl chr 9:127,920,881...127,930,785
JBrowse link
G PPDPF pancreatic progenitor cell differentiation and proliferation factor IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr20:63,520,741...63,522,206
Ensembl chr20:63,520,765...63,522,206
JBrowse link
G PTGES2 prostaglandin E synthase 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:128,120,693...128,128,440
Ensembl chr 9:128,120,693...128,128,462
JBrowse link
G PTGES2-AS1 PTGES2 antisense RNA 1 (head to head) IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:128,128,529...128,130,634
Ensembl chr 9:128,128,529...128,130,628
JBrowse link
G PTK6 protein tyrosine kinase 6 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr20:63,528,001...63,537,376
Ensembl chr20:63,528,001...63,537,376
JBrowse link
G PTRH1 peptidyl-tRNA hydrolase 1 homolog IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:127,691,923...127,715,676
Ensembl chr 9:127,690,348...127,724,873
JBrowse link
G RASSF7 Ras association domain family member 7 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:560,970...564,025
Ensembl chr11:560,404...564,025
JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253
JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP ClinVar Annotator: match by term: Ohtahara syndrome
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar PMID:1868258 PMID:1893099 PMID:9126059 PMID:10486327 PMID:10521305 PMID:10742094 PMID:11118488 PMID:11254444 PMID:11254445 PMID:11359211 PMID:11567038 PMID:11940708 PMID:12083760 PMID:12086636 PMID:12535936 PMID:12566275 PMID:12576172 PMID:12610651 PMID:12754708 PMID:12821740 PMID:12919402 PMID:14504318 PMID:14672992 PMID:14702334 PMID:14738421 PMID:15087100 PMID:15277629 PMID:15508916 PMID:15694566 PMID:16075041 PMID:16210358 PMID:16458823 PMID:16541393 PMID:16713913 PMID:16713920 PMID:16865694 PMID:17054684 PMID:17054685 PMID:17129991 PMID:17166794 PMID:17347258 PMID:17537961 PMID:17561957 PMID:17679682 PMID:17903680 PMID:18021921 PMID:18056581 PMID:18076640 PMID:18330841 PMID:18413471 PMID:18414213 PMID:18479393 PMID:18554359 PMID:18804930 PMID:18930999 PMID:19200853 PMID:19236456 PMID:19303743 PMID:19359143 PMID:19400878 PMID:19522081 PMID:19563349 PMID:19585586 PMID:19589774 PMID:19763161 PMID:19782004 PMID:20100831 PMID:20110217 PMID:20117752 PMID:20431604 PMID:20452746 PMID:20522430 PMID:20550552 PMID:20562086 PMID:20600615 PMID:20729507 PMID:20738378 PMID:20831750 PMID:20879882 PMID:21248271 PMID:21371021 PMID:21396429 PMID:21416599 PMID:21425109 PMID:21692795 PMID:21703448 PMID:21713554 PMID:21719429 PMID:21844054 PMID:21864321 PMID:21868258 PMID:21906962 PMID:22011963 PMID:22050978 PMID:22071555 PMID:22092154 PMID:22140375 PMID:22147323 PMID:22150645 PMID:22151702 PMID:22409937 PMID:22550089 PMID:22612257 PMID:22780858 PMID:22848613 PMID:23016767 PMID:23086956 PMID:23103419 PMID:23184456 PMID:23195492 PMID:23398550 PMID:23398611 PMID:23527921 PMID:23662938 PMID:23708187 PMID:23762420 PMID:23808377 PMID:23821540 PMID:23884151 PMID:23895530 PMID:23934111 PMID:24097157 PMID:24136861 PMID:24155976 PMID:24168886 PMID:24277604 PMID:24328833 PMID:24337656 PMID:24472396 PMID:24502503 PMID:24623842 PMID:24656210 PMID:24679980 PMID:25243660 PMID:25326635 PMID:25348405 PMID:25378155 PMID:25401298 PMID:25459968 PMID:25459969 PMID:25524840 PMID:25576396 PMID:25669891 PMID:25741868 PMID:25818041 PMID:25885068 PMID:26068938 PMID:26096185 PMID:26169758 PMID:26188943 PMID:26252084 PMID:26339958 PMID:26467025 PMID:26544041 PMID:26633542 PMID:26699486 PMID:26845707 PMID:26990884 PMID:26993267 PMID:27029629 PMID:27066544 PMID:27113213 PMID:27197941 PMID:27231140 PMID:27236449 PMID:27267376 PMID:27465585 PMID:27652284 PMID:27781031 PMID:27864847 PMID:28012175 PMID:28074849 PMID:28079314 PMID:28084635 PMID:28102150 PMID:28148630 PMID:28150151 PMID:28192756 PMID:28202706 PMID:28387369 PMID:28492532 PMID:28544625 PMID:28708303 PMID:28794249 PMID:28842445 PMID:28951233 PMID:29056246 PMID:29100083 PMID:29141279 PMID:29142202 PMID:29186148 PMID:29314583 PMID:29358611 PMID:29408779 PMID:29460957 PMID:29655203 PMID:29760947 PMID:29852413 PMID:30146492 PMID:30182498 PMID:30321769 PMID:30525188 PMID:30558019 PMID:30619928 PMID:30659983 PMID:30977726 PMID:31001185 PMID:31009440 PMID:31791873 PMID:32238909 PMID:32581362 NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214
JBrowse link
G SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:1868258 PMID:10486327 PMID:10742094 PMID:11118488 PMID:11254444 PMID:11254445 PMID:11359211 PMID:11940708 PMID:12083760 PMID:12086636 PMID:12535936 PMID:12566275 PMID:12610651 PMID:12821740 PMID:14504318 PMID:14672992 PMID:14702334 PMID:14738421 PMID:15694566 PMID:16075041 PMID:16865694 PMID:17054684 PMID:17129991 PMID:17347258 PMID:17537961 PMID:17561957 PMID:17903680 PMID:18021921 PMID:18056581 PMID:18076640 PMID:18330841 PMID:18413471 PMID:18414213 PMID:18479393 PMID:18554359 PMID:18804930 PMID:18930999 PMID:19359143 PMID:19400878 PMID:19522081 PMID:19563349 PMID:19589774 PMID:19763161 PMID:20100831 PMID:20117752 PMID:20431604 PMID:20452746 PMID:20522430 PMID:20550552 PMID:20600615 PMID:20729507 PMID:20738378 PMID:20831750 PMID:21248271 PMID:21396429 PMID:21425109 PMID:21713554 PMID:21719429 PMID:21844054 PMID:21868258 PMID:21906962 PMID:22011963 PMID:22092154 PMID:22140375 PMID:22409937 PMID:22550089 PMID:22780858 PMID:23016767 PMID:23195492 PMID:23398550 PMID:23398611 PMID:23527921 PMID:23708187 PMID:23762420 PMID:23808377 PMID:23884151 PMID:23895530 PMID:23934111 PMID:24136861 PMID:24155976 PMID:24168886 PMID:24328833 PMID:24337656 PMID:24472396 PMID:24502503 PMID:24679980 PMID:25326635 PMID:25348405 PMID:25378155 PMID:25459968 PMID:25459969 PMID:25524840 PMID:25576396 PMID:25741868 PMID:25818041 PMID:26068938 PMID:26096185 PMID:26169758 PMID:26188943 PMID:26252084 PMID:26467025 PMID:26544041 PMID:26633542 PMID:26990884 PMID:26993267 PMID:27113213 PMID:27197941 PMID:27236449 PMID:27267376 PMID:27465585 PMID:27652284 PMID:27781031 PMID:27864847 PMID:28012175 PMID:28084635 PMID:28102150 PMID:28202706 PMID:28492532 PMID:28708303 PMID:28794249 PMID:28842445 PMID:28951233 PMID:29056246 PMID:29100083 PMID:29141279 PMID:29142202 PMID:29186148 PMID:29358611 PMID:29460957 PMID:29655203 PMID:29760947 PMID:30321769 PMID:30525188 PMID:30619928 PMID:30659983 PMID:31001185 PMID:31009440 PMID:32238909 PMID:32581362 NCBI chr 2:165,957,418...166,036,400
Ensembl chr 2:165,957,188...166,390,771
JBrowse link
G SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21719429 PMID:23016767 PMID:25524840 PMID:26068938 PMID:28202706 PMID:28492532 NCBI chr 2:166,081,531...166,301,784
Ensembl chr 2:165,957,188...166,390,771
JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28492532 NCBI chr 2:165,208,056...165,392,310
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: Early infantile epileptic encephalopathy ClinVar PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28492532 NCBI chr 2:165,087,526...165,204,295
Ensembl chr 2:165,087,526...165,204,050
Ensembl chr 2:165,087,526...165,204,050
JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 IAGP
ISS
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar
MouseDO
PMID:12374766 PMID:15525788 PMID:15800189 PMID:17881658 PMID:18414213 PMID:19465131 PMID:20869590 PMID:22365152 PMID:23020937 PMID:24874546 PMID:24888894 PMID:25046240 PMID:25227913 PMID:25239001 PMID:25326635 PMID:25326637 PMID:25568300 PMID:25741868 PMID:25785782 PMID:25849321 PMID:25951352 PMID:26029160 PMID:26220391 PMID:26235739 PMID:26297079 PMID:26467025 PMID:26647175 PMID:26900580 PMID:26993267 PMID:27210545 PMID:27779742 PMID:27781031 PMID:27864847 PMID:27875746 PMID:27900360 PMID:28387369 PMID:28492532 PMID:28676574 PMID:28702509 PMID:28735751 PMID:28923014 PMID:29100083 PMID:29121005 PMID:29186148 PMID:29432985 PMID:29588952 PMID:29655203 PMID:29720203 PMID:30109124 PMID:30171078 PMID:30615093 NCBI chr12:51,591,233...51,812,864
Ensembl chr12:51,590,266...51,812,864
JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28202706 PMID:28492532 NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001
JBrowse link
G SCT secretin IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:626,095...627,692
Ensembl chr11:626,309...627,181
JBrowse link
G SH2D3C SH2 domain containing 3C IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:127,738,317...127,778,666
Ensembl chr 9:127,738,317...127,778,710
JBrowse link
G SLC25A22 solute carrier family 25 member 22 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar Annotator: match by term: Ohtahara syndrome
ClinVar PMID:18414213 PMID:25741868 PMID:26467025 PMID:27843123 PMID:28255779 PMID:28492532 NCBI chr11:790,475...798,281
Ensembl chr11:790,475...798,281
JBrowse link
G SLC25A25 solute carrier family 25 member 25 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:128,068,200...128,109,245
Ensembl chr 9:128,068,201...128,109,245
JBrowse link
G SLC25A25-AS1 SLC25A25 antisense RNA 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:128,111,171...128,118,734
Ensembl chr 9:128,108,581...128,118,693
JBrowse link
G SLC27A4 solute carrier family 27 member 4 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:128,340,516...128,361,470
Ensembl chr 9:128,340,527...128,361,470
JBrowse link
G SLC2A4RG SLC2A4 regulator IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr20:63,739,776...63,744,050
Ensembl chr20:63,739,776...63,744,050
JBrowse link
G SPTAN1 spectrin alpha, non-erythrocytic 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18414213 PMID:18469812 PMID:22258530 PMID:25224718 PMID:25741868 PMID:26467025 PMID:26539891 PMID:26704558 PMID:26865513 PMID:28199897 PMID:28492532 PMID:29264391 PMID:29358611 PMID:29655203 NCBI chr 9:128,552,564...128,633,662
Ensembl chr 9:128,552,558...128,633,662
JBrowse link
G SRMS src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr20:63,538,489...63,547,749
Ensembl chr20:63,540,810...63,547,504
JBrowse link
G ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18414213 PMID:23252400 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:43,707,465...43,931,164
Ensembl chr 1:43,705,824...43,931,165
JBrowse link
G ST6GALNAC4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 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: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:127,885,321...127,906,764
Ensembl chr 9:127,867,850...127,906,022
Ensembl chr 9:127,867,850...127,906,022
JBrowse link
G STMN3 stathmin 3 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr20:63,639,712...63,653,424
Ensembl chr20:63,639,705...63,657,682
JBrowse link
G STXBP1 syntaxin binding protein 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18414213 PMID:18469812 PMID:19557857 PMID:20876469 PMID:20887364 PMID:21762454 PMID:21770924 PMID:22211739 PMID:22495311 PMID:22722545 PMID:23409955 PMID:23662938 PMID:23708187 PMID:23757202 PMID:23934111 PMID:24033266 PMID:24189369 PMID:24315539 PMID:24623842 PMID:24781210 PMID:25008876 PMID:25131622 PMID:25356970 PMID:25418441 PMID:25497044 PMID:25556537 PMID:25693842 PMID:25714420 PMID:25741868 PMID:26384463 PMID:26467025 PMID:26514728 PMID:26544041 PMID:26633542 PMID:26648591 PMID:26795593 PMID:26865513 PMID:26918652 PMID:26993267 PMID:27069701 PMID:27171548 PMID:27184330 PMID:27779742 PMID:28133863 PMID:28387360 PMID:28387369 PMID:28492532 PMID:28628100 PMID:28947817 PMID:29186148 PMID:29264391 PMID:29314583 PMID:29896790 PMID:30109124 PMID:31255830 PMID:31474318 PMID:32238909 PMID:32581362 NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027
JBrowse link
G SWI5 SWI5 homologous recombination repair protein IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:128,275,356...128,288,989
Ensembl chr 9:128,275,379...128,316,123
JBrowse link
G TALDO1 transaldolase 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:747,464...765,012
Ensembl chr11:747,415...765,012
JBrowse link
G TMEM80 transmembrane protein 80 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:695,585...705,028
Ensembl chr11:695,428...705,028
JBrowse link
G TNFRSF6B TNF receptor superfamily member 6b IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr20:63,696,652...63,698,684
Ensembl chr20:63,696,652...63,698,684
JBrowse link
G TOR2A torsin family 2 member A IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:127,731,524...127,735,328
Ensembl chr 9:127,731,524...127,735,313
JBrowse link
G TPD52L2 TPD52 like 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr20:63,865,247...63,891,538
Ensembl chr20:63,865,228...63,891,545
JBrowse link
G TRR-TCT3-1 tRNA-Arg (anticodon TCT) 3-1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:128,340,076...128,340,166 JBrowse link
G TRUB2 TruB pseudouridine synthase family member 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:128,305,159...128,322,447
Ensembl chr 9:128,305,159...128,322,447
JBrowse link
G TTC16 tetratricopeptide repeat domain 16 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:127,716,064...127,731,590
Ensembl chr 9:127,716,079...127,731,590
JBrowse link
G TTC21B tetratricopeptide repeat domain 21B IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28492532 NCBI chr 2:165,873,362...165,953,781
Ensembl chr 2:165,857,475...165,953,816
JBrowse link
G TTC21B-AS1 TTC21B antisense RNA 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21719429 PMID:23016767 PMID:25524840 PMID:26068938 PMID:28492532 NCBI chr 2:165,933,857...165,948,321
Ensembl chr 2:165,933,857...165,949,891
JBrowse link
G UBA5 ubiquitin like modifier activating enzyme 5 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24033266 PMID:25741868 PMID:27545674 PMID:27545681 PMID:27926783 PMID:28492532 PMID:28965491 PMID:29286531 NCBI chr 3:132,654,430...132,679,794
Ensembl chr 3:132,654,446...132,678,498
Ensembl chr 3:132,654,446...132,678,498
Ensembl chr 3:132,654,446...132,678,498
JBrowse link
G URM1 ubiquitin related modifier 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 9:128,371,319...128,392,016
Ensembl chr 9:128,371,361...128,392,016
Ensembl chr 9:128,371,361...128,392,016
JBrowse link
G ZBTB46 zinc finger and BTB domain containing 46 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr20:63,743,670...63,832,332
Ensembl chr20:63,743,668...63,832,038
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: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr20:63,707,442...63,736,142
Ensembl chr20:63,707,465...63,736,142
JBrowse link
early infantile epileptic encephalopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 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
associated with Mental Retardation, X-Linked;DNA:insertion:cds:c.333_334ins(GCG)7 (human)
ClinVar
OMIM
PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:10353782 PMID:10398246 PMID:11889467 PMID:11971879 PMID:12116222 PMID:12177367 PMID:12376938 PMID:12376946 PMID:12376949 PMID:12640086 PMID:12874418 PMID:14722918 PMID:15151512 PMID:15200506 PMID:15850492 PMID:16078051 PMID:16235064 PMID:16523516 PMID:17331656 PMID:17480217 PMID:17641262 PMID:17668384 PMID:18414213 PMID:18462864 PMID:19507262 PMID:19606478 PMID:19738637 PMID:20148114 PMID:20300201 PMID:20384723 PMID:20506206 PMID:21108397 PMID:21204215 PMID:21204226 PMID:21426321 PMID:21496008 PMID:22922607 PMID:23039062 PMID:23246292 PMID:23757202 PMID:24643514 PMID:24781210 PMID:25741868 PMID:26029707 PMID:26337422 PMID:26467025 PMID:28492532 PMID:29152528 PMID:30255221 PMID:32313153, PMID:19587282, PMID:17664401 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 CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025
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 PMID:26467025 PMID:27259978 PMID:27281533 PMID:28301460 PMID:28492532 PMID:29358611 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 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
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 PMID:25477152 PMID:25741868 PMID:25751627 PMID:27733563 PMID:28492532 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 chr20:63,400,210...63,472,677
Ensembl chr20:63,400,210...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: X-Linked Infantile Spasm Syndrome
ClinVar PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:10353782 PMID:10398246 PMID:11889467 PMID:11971879 PMID:12116222 PMID:12376938 PMID:12376946 PMID:12376949 PMID:12640086 PMID:12874418 PMID:15151512 PMID:15200506 PMID:15850492 PMID:16078051 PMID:16235064 PMID:17331656 PMID:17480217 PMID:17641262 PMID:17668384 PMID:18414213 PMID:19507262 PMID:19606478 PMID:20506206 PMID:21204215 PMID:21204226 PMID:21496008 PMID:22922607 PMID:23246292 PMID:23757202 PMID:24643514 PMID:24781210 PMID:25741868 PMID:26029707 PMID:26337422 PMID:28492532 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:25741868 PMID:26467025 PMID:28492532 PMID:29358611 PMID:29390993 NCBI chr16:79,202,624...79,601,952
Ensembl chr16:79,585,843...79,600,737
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
Ensembl chr11:64,606,174...64,723,197
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:24,693,909...24,996,986
Ensembl chr  X:24,693,909...24,996,986
JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 PMID:28492532 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...32,728,048
Ensembl chr21:32,628,759...32,728,048
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:10574461 PMID:16855591 PMID:18414213 PMID:20727515 PMID:22277662 PMID:23184456 PMID:23526554 PMID:23806086 PMID:24033266 PMID:24088043 PMID:24291220 PMID:24387994 PMID:24848745 PMID:25169651 PMID:25557349 PMID:25719194 PMID:25741868 PMID:25769375 PMID:26207815 PMID:26371875 PMID:26467025 PMID:26668325 PMID:27259978 PMID:27281533 PMID:27502353 PMID:27541164 PMID:28072960 PMID:28292732 PMID:28301460 PMID:28428906 PMID:28492532 PMID:28663785 PMID:29100083 PMID:29358611 PMID:29671961 PMID:30108545 PMID:30180405 PMID:30311386 PMID:30335140 PMID:31112829 PMID:31257402 NCBI chr16:2,475,104...2,509,669
Ensembl chr16:2,475,051...2,509,560
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 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:11572989 PMID:20480411 PMID:21983861 PMID:24082139 PMID:24456803 PMID:25403906 PMID:25411445 PMID:25558065 PMID:25612104 PMID:25741868 PMID:26467025 PMID:27495153 PMID:27569545 PMID:27717089 PMID:27884173 PMID:28492532 PMID:29358611 PMID:29390993 PMID:29675105 PMID:29852413 PMID:29905011 NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,430...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
early infantile epileptic encephalopathy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 disorder
ClinVar
OMIM
PMID:11326335 PMID:11738931 PMID:15028761 PMID:15048894 PMID:17021166 PMID:18414213 PMID:18479388 PMID:19702560 PMID:19786696 PMID:20956790 PMID:22029951 PMID:22581653 PMID:22591750 PMID:23360469 PMID:23550958 PMID:23708187 PMID:23849776 PMID:23934111 PMID:23935176 PMID:24579881 PMID:25131622 PMID:25326635 PMID:25326637 PMID:25741868 PMID:25772804 PMID:25818041 PMID:25937001 PMID:26291284 PMID:26467025 PMID:26645390 PMID:26648591 PMID:26993267 PMID:27159988 PMID:27328862 PMID:27781031 PMID:27824329 PMID:27867041 PMID:28065826 PMID:28087622 PMID:28379373 PMID:28492532 PMID:28554332 PMID:28628100 PMID:28708303 PMID:29186148 PMID:29215089 PMID:29389947 PMID:29844171 PMID:30165711 PMID:32488064 PMID:32860008 NCBI chr 2:165,208,056...165,392,310
Ensembl chr 2:165,194,993...165,392,310
JBrowse link
early infantile epileptic encephalopathy 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLCB1 phospholipase C beta 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 ClinVar
OMIM
PMID:9305844 PMID:18414213 PMID:20833646 PMID:22690784 PMID:24684524 PMID:24747189 PMID:25741868 PMID:25950944 PMID:26467025 PMID:26818157 PMID:28492532 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 PMID:10446192 PMID:11112660 PMID:15381417 PMID:18414213 PMID:20118933 PMID:22508754 PMID:23224214 PMID:23708187 PMID:24033266 PMID:25558065 PMID:25728773 PMID:25741868 PMID:26467025 PMID:26993267 PMID:27066567 PMID:27066586 PMID:27232581 PMID:28492532 PMID:29056246 PMID:29261713 PMID:29498415 PMID:29655203 PMID:29720203 PMID:29924869 PMID:30039206 PMID:31061747 NCBI 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
early infantile 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 PMID:19465131 PMID:20869590 PMID:22365152 PMID:23020937 PMID:23708187 PMID:23934111 PMID:24194747 PMID:24352161 PMID:24874546 PMID:24888894 PMID:25046240 PMID:25227913 PMID:25239001 PMID:25326635 PMID:25326637 PMID:25533962 PMID:25568300 PMID:25725044 PMID:25741868 PMID:25785782 PMID:25799905 PMID:25818041 PMID:25849321 PMID:25914188 PMID:25951352 PMID:26029160 PMID:26220391 PMID:26235738 PMID:26235739 PMID:26297079 PMID:26467025 PMID:26647175 PMID:26680202 PMID:26900580 PMID:26993267 PMID:27210545 PMID:27779742 PMID:27864847 PMID:27875746 PMID:28387369 PMID:28492532 PMID:28676574 PMID:28708303 PMID:28735751 PMID:28923014 PMID:29100083 PMID:29186148 PMID:29588952 PMID:29720203 PMID:30171078 PMID:30615093 PMID:32581362 NCBI chr12:51,591,233...51,812,864
Ensembl chr12:51,590,266...51,812,864
JBrowse link
early infantile epileptic encephalopathy 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C9orf163 chromosome 9 putative open reading frame 163 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar 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: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:28492532 NCBI chr 9:136,363,956...136,373,669
Ensembl chr 9:136,361,903...136,373,681
JBrowse link
G DNLZ DNL-type zinc finger IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:28492532 NCBI chr 9:136,359,483...136,363,744
Ensembl chr 9:136,359,480...136,363,744
JBrowse link
G ENTR1 endosome associated trafficking regulator 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:28492532 NCBI chr 9:136,401,922...136,410,614
Ensembl chr 9:136,401,922...136,410,614
JBrowse link
G GPSM1 G protein signaling modulator 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:28492532 NCBI chr 9:136,327,539...136,359,605
Ensembl chr 9:136,327,476...136,359,605
JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar 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:18414213 PMID:18479385 PMID:23086396 PMID:23086397 PMID:24029078 PMID:24120652 PMID:24319675 PMID:24463883 PMID:24591078 PMID:25042079 PMID:25326635 PMID:25326637 PMID:25339316 PMID:25482562 PMID:25590979 PMID:25741868 PMID:25985138 PMID:26105150 PMID:26122718 PMID:26140313 PMID:26269628 PMID:26369628 PMID:26467025 PMID:26597493 PMID:26648591 PMID:26740507 PMID:26786403 PMID:26993267 PMID:27029629 PMID:27064559 PMID:27081515 PMID:27159321 PMID:27652284 PMID:27779742 PMID:28366665 PMID:28492532 PMID:28554332 PMID:28973083 PMID:28987752 PMID:29100083 PMID:29186148 PMID:29196579 PMID:29314583 PMID:29358611 PMID:29390993 PMID:29422393 PMID:30182418 PMID:30868116 NCBI chr 9:135,702,185...135,795,502
Ensembl chr 9:135,702,185...135,795,508
JBrowse link
G LHX3 LIM homeobox 3 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:28492532 NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128
JBrowse link
G NACC2 NACC family member 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:28492532 NCBI chr 9:136,006,537...136,095,289
Ensembl chr 9:136,006,537...136,095,289
JBrowse link
G NOTCH1 notch receptor 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:28492532 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
JBrowse link
G PMPCA peptidase, mitochondrial processing subunit alpha IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:28492532 NCBI chr 9:136,410,658...136,423,761
Ensembl chr 9:136,410,641...136,423,761
JBrowse link
G QSOX2 quiescin sulfhydryl oxidase 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:28492532 NCBI chr 9:136,206,333...136,245,812
Ensembl chr 9:136,206,333...136,245,812
Ensembl chr 9:136,206,333...136,245,812
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 2:165,208,056...165,392,310
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:28492532 NCBI chr 9:136,440,096...136,484,552
Ensembl chr 9:136,440,096...136,483,759
JBrowse link
G SNAPC4 small nuclear RNA activating complex polypeptide 4 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:28492532 NCBI chr 9:136,375,569...136,400,220
Ensembl chr 9:136,375,577...136,400,168
JBrowse link
G TMEM250 transmembrane protein 250 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:28492532 NCBI chr 9:136,114,581...136,118,875
Ensembl chr 9:136,114,581...136,118,875
JBrowse link
G UBAC1 UBA domain containing 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:28492532 NCBI chr 9:135,932,969...135,961,373
Ensembl chr 9:135,932,969...135,961,373
JBrowse link
early infantile epileptic encephalopathy 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 15
ClinVar Annotator: match by term: Epilepsy due to perinatal stroke
OMIM
ClinVar
PMID:23252400 PMID:25741868 PMID:28492532 PMID:30089820 NCBI chr 1:43,707,465...43,931,164
Ensembl chr 1:43,705,824...43,931,165
JBrowse link
early infantile epileptic encephalopathy 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TBC1D24 TBC1 domain family member 24 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 16 ClinVar
OMIM
PMID:23526554 PMID:23806086 PMID:24033266 PMID:24088043 PMID:24291220 PMID:25169651 PMID:25719194 PMID:25741868 PMID:25769375 PMID:26371875 PMID:27281533 PMID:28292732 PMID:28428906 PMID:28492532 NCBI chr16:2,475,104...2,509,669
Ensembl chr16:2,475,051...2,509,560
JBrowse link
early infantile epileptic encephalopathy 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNAO1 G protein subunit alpha o1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 17 ClinVar
OMIM
PMID:18414213 PMID:23993195 PMID:25741868 PMID:25966631 PMID:26060304 PMID:27068059 PMID:27072799 PMID:27625011 PMID:27864847 PMID:28202424 PMID:28357411 PMID:28492532 PMID:28688840 PMID:28747448 PMID:29961512 PMID:32581362 NCBI chr16:56,191,489...56,357,444
Ensembl chr16:56,191,390...56,357,444
Ensembl chr16:56,191,390...56,357,444
JBrowse link
early infantile epileptic encephalopathy 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SZT2 SZT2 subunit of KICSTOR complex IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 18 ClinVar
OMIM
PMID:23932106 PMID:25741868 PMID:28492532 PMID:29358611 PMID:30564332 PMID:30818181 NCBI chr 1:43,389,884...43,454,247
Ensembl chr 1:43,389,882...43,454,247
JBrowse link
early infantile epileptic encephalopathy 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 19 ClinVar
OMIM
PMID:18414213 PMID:24623842 PMID:25741868 PMID:26918889 PMID:27353043 PMID:27521439 PMID:28492532 PMID:29389947 PMID:32238909 NCBI chr 5:161,847,191...161,899,971
Ensembl chr 5:161,847,063...161,899,981
JBrowse link
early infantile epileptic encephalopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BEND2 BEN domain containing 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 NCBI chr  X: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: INFANTILE SPASM SYNDROME, X-LINKED 2
ClinVar
OMIM
PMID:15492925 PMID:15499549 PMID:15689447 PMID:15917271 PMID:16015284 PMID:16326141 PMID:16330482 PMID:16611748 PMID:16813600 PMID:17256798 PMID:17993579 PMID:18063413 PMID:18076117 PMID:18414213 PMID:18564362 PMID:18790821 PMID:18809835 PMID:19161156 PMID:19241098 PMID:19253388 PMID:19362436 PMID:19396824 PMID:19428276 PMID:19471977 PMID:19564592 PMID:19740913 PMID:19780792 PMID:19793311 PMID:19807736 PMID:20397747 PMID:20479760 PMID:20493745 PMID:20602487 PMID:20848651 PMID:21160487 PMID:21293276 PMID:21309761 PMID:21318334 PMID:21482751 PMID:21765152 PMID:21770923 PMID:21775177 PMID:21802232 PMID:22264704 PMID:22430159 PMID:22670135 PMID:22678952 PMID:22779007 PMID:22812903 PMID:22832775 PMID:22867051 PMID:22872100 PMID:22922712 PMID:22982301 PMID:23064044 PMID:23151060 PMID:23184456 PMID:23236174 PMID:23238081 PMID:23242510 PMID:23262346 PMID:23583054 PMID:23647072 PMID:23828526 PMID:23934111 PMID:24564546 PMID:24715584 PMID:25266480 PMID:25315662 PMID:25326635 PMID:25657822 PMID:25741868 PMID:25819767 PMID:26467025 PMID:26482601 PMID:27081548 PMID:27187038 PMID:27848944 PMID:28492532 PMID:28837158 PMID:29190809 PMID:29264392 PMID:29390993 PMID:29420175 PMID:29444904 PMID:29655203 PMID:30776697 PMID:31042466 PMID:31791873, PMID:22678952 RGD:12791015 NCBI chr  X:18,425,608...18,653,629
Ensembl chr  X:18,425,583...18,653,629
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 PMID:23828526 PMID:25315662 PMID:28492532 NCBI chr  X:17,375,200...17,735,994
Ensembl chr  X:17,375,200...17,735,994
Ensembl chr  X:17,375,200...17,735,994
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 PMID:23828526 PMID:25315662 PMID:28492532 NCBI chr  X:17,800,049...17,861,346
Ensembl chr  X:17,800,049...17,861,337
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:15499549 PMID:16813600 PMID:18076117 PMID:18414213 PMID:18564362 PMID:19241098 PMID:19428276 PMID:19780792 PMID:20479760 PMID:20493745 PMID:21160487 PMID:21770923 PMID:21775177 PMID:21802232 PMID:22867051 PMID:23184456 PMID:23242510 PMID:23828526 PMID:25315662 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29264392 PMID:29655203 NCBI chr  X:18,639,688...18,672,108
Ensembl 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 PMID:23828526 PMID:25315662 PMID:28492532 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 PMID:23828526 PMID:25315662 PMID:28492532 NCBI chr  X:18,239,313...18,355,089
Ensembl chr  X:18,239,313...18,354,688
JBrowse link
early infantile epileptic encephalopathy 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3AR1 complement C3a receptor 1 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 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 chr12:7,729,415...7,751,605
Ensembl chr12:7,729,415...7,751,605
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 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 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 PMID:30626896 NCBI chr12:8,082,274...8,097,881
Ensembl chr12:8,076,939...8,097,881
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
early infantile epileptic encephalopathy 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DOCK7 dedicator of cytokinesis 7 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 23 ClinVar
OMIM
PMID:24814191 PMID:25363768 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:62,454,726...62,688,386
Ensembl chr 1:62,454,298...62,688,386
JBrowse link
early infantile epileptic encephalopathy 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 24 ClinVar
OMIM
PMID:24747641 PMID:25741868 PMID:28492532 PMID:30351409 NCBI chr 5:45,254,948...45,696,380
Ensembl chr 5:45,254,948...45,696,498
JBrowse link
early infantile epileptic encephalopathy 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIPL1 aryl hydrocarbon receptor interacting protein like 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr17:6,423,738...6,435,121
Ensembl chr17:6,393,693...6,435,199
JBrowse link
G C17orf100 chromosome 17 open reading frame 100 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr17:6,651,762...6,653,476
Ensembl chr17:6,651,762...6,693,202
JBrowse link
G KIAA0753 KIAA0753 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar 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:28492532 NCBI chr17:6,643,311...6,651,605
Ensembl chr17:6,643,311...6,651,634
JBrowse link
G PIMREG PICALM interacting mitotic regulator IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar 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:28492532 NCBI chr17:6,451,263...6,556,555
Ensembl chr17:6,451,263...6,556,555
JBrowse link
G SLC13A5 solute carrier family 13 member 5 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar
OMIM
PMID:18414213 PMID:24033266 PMID:24995870 PMID:25741868 PMID:26384929 PMID:26467025 PMID:26960556 PMID:27261973 PMID:27600704 PMID:27913086 PMID:28492532 PMID:28673551 PMID:30054523 NCBI chr17:6,684,719...6,713,400
Ensembl chr17:6,684,719...6,713,377
Ensembl chr17:6,684,719...6,713,377
JBrowse link
G TXNDC17 thioredoxin domain containing 17 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr17:6,641,060...6,644,541
Ensembl chr17:6,640,985...6,644,541
JBrowse link
early infantile epileptic encephalopathy 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARFGEF2 ADP ribosylation factor guanine nucleotide exchange factor 2 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 chr20:49,219,295...49,244,077
JBrowse link
G KCNB1 potassium voltage-gated channel subfamily B member 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 26
ClinVar Annotator: match by term: KCNB1-related disorder
ClinVar
OMIM
PMID:8698327 PMID:25131622 PMID:25164438 PMID:25741868 PMID:26467025 PMID:26477325 PMID:26648591 PMID:27652284 PMID:28252636 PMID:28492532 PMID:28806457 PMID:29264397 PMID:31791873 PMID:32581362 NCBI chr20:49,363,877...49,484,033
Ensembl chr20:49,293,394...49,484,297
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 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
early infantile epileptic encephalopathy 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B 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 PMID:25356899 PMID:25741868 PMID:26350515 PMID:26467025 PMID:27572814 PMID:27818011 PMID:27839871 PMID:28191890 PMID:28377535 PMID:28492532 PMID:28554332 PMID:28708303 PMID:28856709 PMID:30217972 NCBI chr12:13,537,337...13,982,012
Ensembl chr12:13,437,942...13,982,002
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:28492532 NCBI chr 2:148,021,011...148,516,971
Ensembl chr 2:148,021,011...148,516,971
JBrowse link
early infantile epileptic encephalopathy 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NCF2 neutrophil cytosolic factor 2 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 1:183,555,563...183,590,876
Ensembl chr 1:183,555,563...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:24456803 PMID:25411445 PMID:25558065 PMID:25741868 PMID:27717089 PMID:28492532 PMID:29358611 PMID:29808465 PMID:29852413 PMID:30853297 NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,430...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
early infantile epileptic encephalopathy 29 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS1 alanyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 29 ClinVar
OMIM
PMID:25741868 PMID:25817015 PMID:28492532 PMID:28493438 PMID:29653220 NCBI chr16:70,252,295...70,289,509
Ensembl chr16:70,251,983...70,289,707
Ensembl chr16:70,251,983...70,289,707
Ensembl chr16:70,251,983...70,289,707
JBrowse link
early infantile epileptic encephalopathy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC25A22 solute carrier family 25 member 22 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 3 OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr11:790,475...798,281
Ensembl chr11:790,475...798,281
JBrowse link
early infantile epileptic encephalopathy 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGPAT3 1-acylglycerol-3-phosphate O-acyltransferase 3 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 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
Ensembl chr21:43,772,511...43,776,330
Ensembl chr21:43,772,511...43,776,330
JBrowse link
G GATD3A glutamine amidotransferase like class 1 domain containing 3A 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 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 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 SIK1 salt inducible kinase 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar
OMIM
PMID:25741868 PMID:25839329 PMID:26467025 PMID:28492532 PMID:30315573 NCBI chr21:43,414,483...43,427,131
Ensembl chr21:43,414,483...43,427,131
JBrowse link
G TRAPPC10 trafficking protein particle complex 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
early infantile epileptic encephalopathy 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CIZ1 CDKN1A interacting zinc finger protein 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:8335685 PMID:10608808 PMID:11031245 PMID:11553700 PMID:19084268 PMID:23977156 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28667181 PMID:29668686 NCBI chr 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
OMIM
PMID:8335685 PMID:10608808 PMID:11031245 PMID:11553700 PMID:19084268 PMID:23781021 PMID:23977156 PMID:25262651 PMID:25533962 PMID:25741868 PMID:25741869 PMID:26467025 PMID:26611353 PMID:27476654 PMID:27806796 PMID:28492532 PMID:28667181 PMID:29314763 PMID:29427836 PMID:29668686 NCBI chr 9:128,203,379...128,255,244
Ensembl chr 9:128,191,655...128,255,248
JBrowse link
G MIR199B microRNA 199b IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:28492532 NCBI chr 9:128,244,721...128,244,830
Ensembl chr 9:128,244,721...128,244,830
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
early infantile epileptic encephalopathy 32 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNA2 potassium voltage-gated channel subfamily A member 2 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 32 ClinVar
OMIM
PMID:8663992 PMID:8663993 PMID:15694325 PMID:16002579 PMID:18414213 PMID:21044565 PMID:25477152 PMID:25741868 PMID:25751627 PMID:25950944 PMID:26467025 PMID:26599217 PMID:27062609 PMID:27457812 PMID:27543892 PMID:27733563 PMID:28032718 PMID:28204960 PMID:28492532 NCBI chr 1:110,593,580...110,631,536
Ensembl chr 1:110,519,837...110,631,474
JBrowse link
early infantile epileptic encephalopathy 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EEF1A2 eukaryotic translation elongation factor 1 alpha 2 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33
ClinVar Annotator: match by term: EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy
ClinVar
OMIM
PMID:3066688 PMID:18414213 PMID:23033978 PMID:23647072 PMID:24697219 PMID:25326326 PMID:25326635 PMID:25741868 PMID:26467025 PMID:26633542 PMID:26682508 PMID:26795593 PMID:27441201 PMID:28135719 PMID:28378778 PMID:28492532 PMID:28911200 NCBI chr20:63,488,014...63,499,083
Ensembl chr20:63,488,013...63,499,239
Ensembl chr20:63,488,013...63,499,239
JBrowse link
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 ClinVar PMID:27441201 PMID:28492532 NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,210...63,472,677
Ensembl chr20:63,400,210...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:27441201 PMID:28492532 NCBI chr20:63,447,024...63,450,898 JBrowse link
G PPDPF pancreatic progenitor cell differentiation and proliferation factor IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 ClinVar PMID:28492532 NCBI chr20:63,520,741...63,522,206
Ensembl chr20:63,520,765...63,522,206
JBrowse link
early infantile 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:24668262 PMID:24928908 PMID:25741868 PMID:26333769 PMID:27436767 PMID:27535533 PMID:28492532 PMID:30763027 NCBI chr20:46,021,686...46,060,150
Ensembl chr20:46,021,690...46,060,152
Ensembl chr20:46,021,690...46,060,152
JBrowse link
early infantile epileptic encephalopathy 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ITPA inosine triphosphatase IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 35 ClinVar
OMIM
PMID:25741868 PMID:26224535 PMID:28492532 PMID:30856165 NCBI chr20:3,208,676...3,227,449
Ensembl chr20:3,208,868...3,223,870
JBrowse link
early infantile epileptic encephalopathy 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 36
ClinVar Annotator: match by term: CDG Is
ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Is
ClinVar
OMIM
PMID:22492991 PMID:23033978 PMID:23934111 PMID:24476948 PMID:24781210 PMID:24896178 PMID:25732998 PMID:25741868 PMID:26138355 PMID:26467025 PMID:26482601 PMID:28492532 PMID:28940310 PMID:32238909 PMID:32681751 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
early infantile epileptic encephalopathy 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FRRS1L ferric chelate reductase 1 like IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 37 ClinVar
OMIM
PMID:21147040 PMID:25741868 PMID:27236917 PMID:27239025 PMID:28492532 PMID:30525197 PMID:30692144 PMID:32860008 NCBI chr 9:109,130,293...109,167,249
Ensembl chr 9:109,130,293...109,167,295
Ensembl chr 9:109,130,293...109,167,295
JBrowse link
early infantile epileptic encephalopathy 38 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARV1 ARV1 homolog, fatty acid homeostasis modulator IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 38 ClinVar
OMIM
PMID:25558065 PMID:25741868 PMID:27270415 PMID:32165008 NCBI chr 1:230,979,082...231,000,733
Ensembl chr 1:230,978,981...231,000,733
JBrowse link
early infantile epileptic encephalopathy 39 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC25A12 solute carrier family 25 member 12 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
early infantile epileptic encephalopathy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDKL5 cyclin dependent kinase like 5 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 9:127,451,486...127,503,501
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: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 4
ClinVar Annotator: match by term: STXBP1-associated neurodevelopmental disorder
DNA:deletion, missense mutations:exon:multiple
ClinVar
OMIM
PMID:18414213 PMID:18469812 PMID:19557857 PMID:20887364 PMID:21762454 PMID:21770924 PMID:22495311 PMID:22612257 PMID:23409955 PMID:23662938 PMID:23708187 PMID:23757202 PMID:23858467 PMID:23934111 PMID:24189369 PMID:24315539 PMID:24623842 PMID:24781210 PMID:25008876 PMID:25284778 PMID:25326635 PMID:25356970 PMID:25418441 PMID:25497044 PMID:25693842 PMID:25714420 PMID:25741868 PMID:25758715 PMID:25818041 PMID:26384463 PMID:26467025 PMID:26514728 PMID:26544041 PMID:26740508 PMID:26795593 PMID:26865513 PMID:26993267 PMID:27069701 PMID:27184330 PMID:27779742 PMID:28133863 PMID:28492532 PMID:29264391 PMID:29389947 PMID:31255830 PMID:31474318 PMID:32238909, PMID:20876469, PMID:18469812 RGD:11068998, RGD:12903960 NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027
JBrowse link
early infantile epileptic encephalopathy 40 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GUF1 GTP binding elongation factor GUF1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 40 ClinVar
OMIM
PMID:26486472 NCBI chr 4:44,678,420...44,700,928
Ensembl chr 4:44,678,420...44,700,928
JBrowse link
early infantile epileptic encephalopathy 41 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC1A2 solute carrier family 1 member 2 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 41 ClinVar
OMIM
PMID:23107647 PMID:23934111 PMID:24214974 PMID:25741868 PMID:27476654 PMID:28777935 NCBI chr11:35,251,205...35,420,058
Ensembl chr11:35,251,205...35,420,063
JBrowse link
early infantile epileptic encephalopathy 42 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1A calcium voltage-gated channel subunit alpha1 A 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:10408532 PMID:16043807 PMID:16325861 PMID:16787562 PMID:17292920 PMID:17588611 PMID:18354422 PMID:18644040 PMID:19811514 PMID:20080591 PMID:20097664 PMID:20156848 PMID:20301674 PMID:21183743 PMID:21703448 PMID:21734179 PMID:22249839 PMID:22784462 PMID:23183922 PMID:23397224 PMID:23831250 PMID:23869231 PMID:23934111 PMID:24033266 PMID:24108129 PMID:24486772 PMID:24996492 PMID:25326635 PMID:25356970 PMID:25481746 PMID:25596066 PMID:25741868 PMID:25758715 PMID:25851414 PMID:26467025 PMID:26716990 PMID:26814174 PMID:27066515 PMID:27476654 PMID:28007337 PMID:28455667 PMID:28492532 PMID:28540055 PMID:28742085 PMID:29056246 PMID:29100083 PMID:30011838 PMID:30167989 PMID:30283815 PMID:31468518 PMID:31487502 PMID:32238909 PMID:32860008 PMID:97053792 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025
JBrowse link
G DPYD dihydropyrimidine dehydrogenase IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42 ClinVar PMID:25741868 NCBI chr 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000
JBrowse link
G DPYD-AS1 DPYD antisense RNA 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42 ClinVar PMID:25741868 NCBI chr 1:97,095,923...97,322,955
Ensembl chr 1:97,095,923...97,322,955
JBrowse link
early infantile epileptic encephalopathy 43 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 43 ClinVar
OMIM
PMID:23934111 PMID:25741868 PMID:28492532 NCBI chr15:26,543,552...26,773,763
Ensembl chr15:26,543,546...26,939,539
JBrowse link
early infantile epileptic encephalopathy 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 44 ClinVar PMID:24033266 PMID:25741868 PMID:27545674 PMID:27545681 PMID:27926783 PMID:28492532 PMID:28965491 PMID:29286531 NCBI chr 3:132,558,138...132,722,459
Ensembl chr 3:132,558,142...132,722,459
JBrowse link
G UBA5 ubiquitin like modifier activating enzyme 5 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 44 ClinVar
OMIM
PMID:24033266 PMID:25741868 PMID:27545674 PMID:27545681 PMID:27926783 PMID:28492532 PMID:28965491 PMID:29286531 NCBI chr 3:132,654,430...132,679,794
Ensembl chr 3:132,654,446...132,678,498
Ensembl chr 3:132,654,446...132,678,498
Ensembl chr 3:132,654,446...132,678,498
JBrowse link
early infantile epileptic encephalopathy 45 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GABRB1 gamma-aminobutyric acid type A receptor subunit beta1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 45 ClinVar
OMIM
PMID:23934111 PMID:25741868 PMID:26950270 PMID:27273810 PMID:31618474 NCBI chr 4:46,993,560...47,438,409
Ensembl chr 4:46,993,723...47,426,447
JBrowse link
early infantile epileptic encephalopathy 46 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRIN2D glutamate ionotropic receptor NMDA type subunit 2D IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 46 ClinVar
OMIM
PMID:25741868 PMID:27616483 PMID:30280376 PMID:32860008 NCBI chr19:48,393,668...48,444,937
Ensembl chr19:48,394,875...48,444,931
JBrowse link
early infantile epileptic encephalopathy 47 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF12 fibroblast growth factor 12 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 47 ClinVar
OMIM
PMID:25741868 PMID:27164707 PMID:27830185 PMID:27872899 NCBI chr 3:192,139,390...192,727,541
Ensembl chr 3:192,139,395...192,767,764
JBrowse link
early infantile epileptic encephalopathy 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP3B2 adaptor related protein complex 3 subunit beta 2 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 48 ClinVar
OMIM
PMID:18414213 PMID:25741868 PMID:27431290 PMID:27889060 NCBI chr15:82,659,281...82,709,875
Ensembl chr15:82,659,281...82,709,946
JBrowse link
G CPEB1-AS1 CPEB1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 48 ClinVar PMID:18414213 PMID:25741868 PMID:27431290 PMID:27889060 NCBI chr15:82,647,770...82,692,820
Ensembl chr15:82,647,770...82,692,820
JBrowse link
early infantile epileptic encephalopathy 49 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DENND5A DENN domain containing 5A IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 49 ClinVar
OMIM
PMID:25741868 PMID:27431290 PMID:27866705 NCBI chr11:9,138,825...9,265,350
Ensembl chr11:9,138,825...9,265,350
JBrowse link
early infantile epileptic encephalopathy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPTAN1 spectrin alpha, non-erythrocytic 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 5 ClinVar
OMIM
PMID:18414213 PMID:20493457 PMID:22258530 PMID:25741868 PMID:26467025 PMID:26539891 PMID:28492532 PMID:29358611 PMID:31474318 PMID:32963807 NCBI chr 9:128,552,564...128,633,662
Ensembl chr 9:128,552,558...128,633,662
JBrowse link
early infantile epileptic encephalopathy 50 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 50 ClinVar
OMIM
PMID:25678555 PMID:25741868 PMID:28007989 PMID:28492532 NCBI chr 2:27,217,369...27,243,943
Ensembl chr 2:27,217,369...27,243,943
JBrowse link
early infantile epileptic encephalopathy 51 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MDH2 malate dehydrogenase 2 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 51 ClinVar
OMIM
PMID:25741868 PMID:27989324 NCBI chr 7:76,048,106...76,067,508
Ensembl chr 7:76,048,051...76,067,508
JBrowse link
early infantile epileptic encephalopathy 52 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCN1B sodium voltage-gated channel beta subunit 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 52 ClinVar
OMIM
PMID:19710327 PMID:21994374 PMID:22155597 PMID:22155598 PMID:22284586 PMID:22840528 PMID:23148524 PMID:23414114 PMID:23465283 PMID:23861362 PMID:24033266 PMID:25253298 PMID:25741868 PMID:26498160 PMID:27435932 PMID:27896052 PMID:28218389 PMID:28341588 PMID:28492532 PMID:28837624 PMID:29758173 NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449
JBrowse link
early infantile epileptic encephalopathy 53 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SYNJ1 synaptojanin 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 53 OMIM
ClinVar
PMID:25741868 PMID:27435091 PMID:28492532 PMID:32214227 NCBI chr21:32,628,759...32,731,247
Ensembl chr21:32,628,759...32,728,048
Ensembl chr21:32,628,759...32,728,048
JBrowse link
early infantile epileptic encephalopathy 54 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HNRNPU heterogeneous nuclear ribonucleoprotein U IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 54 ClinVar
OMIM
PMID:25356899 PMID:25741868 PMID:26467025 PMID:27652284 PMID:28492532 PMID:28815871 PMID:28944577 PMID:29170628 PMID:32488064 NCBI chr 1:244,850,297...244,864,543
Ensembl chr 1:244,840,638...244,864,560
JBrowse link
early infantile epileptic encephalopathy 55 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIGP phosphatidylinositol glycan anchor biosynthesis class P IAGP ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 55
ClinVar
OMIM
PMID:28334793 PMID:31139695 PMID:32042915 NCBI chr21:37,065,364...37,073,071
Ensembl chr21:37,059,170...37,073,170
Ensembl chr21:37,059,170...37,073,170
JBrowse link
early infantile epileptic encephalopathy 56 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma IAGP ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56 ClinVar
OMIM
PMID:23934111 PMID:25741868 PMID:28777935 NCBI chr 7:76,326,799...76,358,991
Ensembl chr 7:76,326,799...76,358,991
JBrowse link
early infantile epileptic encephalopathy 57 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNT2 potassium sodium-activated channel subfamily T member 2 IAGP ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 57
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 57
ClinVar
OMIM
PMID:24166878 PMID:25741868 PMID:26724206 PMID:29069600 PMID:29314763 PMID:29740868 PMID:32038177 PMID:32773162 NCBI chr 1:196,225,779...196,608,560
Ensembl chr 1:196,225,779...196,609,225
JBrowse link
early infantile epileptic encephalopathy 58 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NTRK2 neurotrophic receptor tyrosine kinase 2 IAGP ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58 OMIM
ClinVar
PMID:25741868 PMID:29100083 NCBI chr 9:84,668,458...85,027,070
Ensembl chr 9:84,668,551...85,027,070
Ensembl chr 9:84,668,551...85,027,070
JBrowse link
early infantile epileptic encephalopathy 59 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GABBR2 gamma-aminobutyric acid type B receptor subunit 2 IAGP ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 59
ClinVar
OMIM
PMID:25262651 PMID:25741868 PMID:28492532 PMID:28856709 PMID:29100083 PMID:32860008 NCBI chr 9:98,288,104...98,708,935
Ensembl chr 9:98,288,109...98,708,935
JBrowse link
early infantile epileptic encephalopathy 60 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNPY3 canopy FGF signaling regulator 3 IAGP ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 60
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 60
ClinVar
OMIM
PMID:25741868 PMID:29394991 NCBI chr 6:42,928,002...42,939,294
Ensembl chr 6:42,929,192...42,939,294
JBrowse link
G CNPY3-GNMT CNPY3-GNMT readthrough IAGP ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 60
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 60
ClinVar PMID:25741868 PMID:29394991 NCBI chr 6:42,929,480...42,963,880 JBrowse link
early infantile epileptic encephalopathy 61 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAM22 ADAM metallopeptidase domain 22 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 61 ClinVar
OMIM
PMID:27066583 NCBI chr 7:87,934,163...88,202,889
Ensembl chr 7:87,934,143...88,202,889
JBrowse link
early infantile epileptic encephalopathy 62 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCN3A sodium voltage-gated channel alpha subunit 3 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 62 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29466837 PMID:29740860 NCBI chr 2:165,087,526...165,204,295
Ensembl chr 2:165,087,526...165,204,050
Ensembl chr 2:165,087,526...165,204,050
JBrowse link
early infantile epileptic encephalopathy 63 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPLX1 complexin 1 IAGP ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63 ClinVar
OMIM
PMID:25741868 PMID:26539891 PMID:28422131 NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129
JBrowse link
early infantile epileptic encephalopathy 65 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYFIP2 cytoplasmic FMR1 interacting protein 2 IAGP ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 65
ClinVar
OMIM
PMID:21107423 PMID:25741868 PMID:25741869 PMID:25741870 PMID:26582918 PMID:29534297 PMID:30664714 NCBI chr 5:157,266,091...157,395,594
Ensembl chr 5:157,266,079...157,395,595
JBrowse link
G LOC102724404 uncharacterized LOC102724404 IAGP ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65 ClinVar PMID:30664714 NCBI chr 5:157,362,615...157,460,100 JBrowse link
early infantile epileptic encephalopathy 66 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PACS2 phosphofurin acidic cluster sorting protein 2 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 OMIM
ClinVar
PMID:25741868 PMID:28628100 PMID:28867141 PMID:29656858 NCBI chr14:105,300,718...105,398,147
Ensembl chr14:105,300,563...105,398,147
JBrowse link
early infantile epileptic encephalopathy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 7
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 7
ClinVar Annotator: match by term: KCNQ2-Related Neonatal Epileptic Encephalopathy
ClinVar Annotator: match by term: Continuous spike and waves during slow-wave sleep syndrome
ClinVar
OMIM
PMID:9425895 PMID:9430594 PMID:11572947 PMID:12742592 PMID:12754513 PMID:12847176 PMID:15030501 PMID:15249611 PMID:16039833 PMID:16260777 PMID:16916607 PMID:16966552 PMID:17475800 PMID:17872363 PMID:18353052 PMID:18414213 PMID:19453707 PMID:22169383 PMID:22275249 PMID:22455920 PMID:22926866 PMID:23291709 PMID:23360469 PMID:23440208 PMID:23621294 PMID:23692823 PMID:23708187 PMID:23934111 PMID:24107868 PMID:24318194 PMID:24371303 PMID:24375629 PMID:24463883 PMID:24759409 PMID:25052858 PMID:25092550 PMID:25262651 PMID:25326635 PMID:25326637 PMID:25473036 PMID:25566516 PMID:25590979 PMID:25740509 PMID:25741868 PMID:25818041 PMID:25880994 PMID:25959266 PMID:25982755 PMID:26007637 PMID:26138355 PMID:26446091 PMID:26467025 PMID:26544041 PMID:26704558 PMID:26993267 PMID:27334371 PMID:27479843 PMID:27535030 PMID:27602407 PMID:27779742 PMID:27864847 PMID:28133863 PMID:28139826 PMID:28283543 PMID:28492532 PMID:28503627 PMID:28602030 PMID:28687180 PMID:28867141 PMID:28973083 PMID:29190809 PMID:29314763 PMID:29390993 PMID:29644095 PMID:29655203 PMID:30109124 PMID:30174244 PMID:30185235 PMID:31105003 PMID:31199083 PMID:32488064 PMID:32581362 PMID:32585800 PMID:32860008 NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,210...63,472,677
Ensembl chr20:63,400,210...63,472,677
JBrowse link
G NEXMIF neurite extension and migration factor IAGP ClinVar Annotator: match by term: Continuous spike and waves during slow-wave sleep syndrome ClinVar PMID:25741868 PMID:27358180 PMID:28492532 PMID:29693785 NCBI chr  X:74,732,856...74,925,452
Ensembl chr  X:74,732,856...74,925,472
Ensembl chr  X:74,732,856...74,925,472
JBrowse link
early infantile epileptic encephalopathy 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 8
ClinVar Annotator: match by term: HYPEREKPLEXIA AND EPILEPSY
ClinVar
OMIM
PMID:15215304 PMID:17893116 PMID:18414213 PMID:18615734 PMID:21633362 PMID:21731583 PMID:23033978 PMID:25678704 PMID:25741868 PMID:26467025 PMID:26834553 PMID:28492532 PMID:28589176 PMID:28708303 PMID:32860008 NCBI chr  X:63,634,967...63,785,546
Ensembl chr  X:63,634,967...63,809,274
JBrowse link
early infantile epileptic encephalopathy 82 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GOT2 glutamic-oxaloacetic transaminase 2 IAGP ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 82 OMIM
ClinVar
PMID:25741868 PMID:31422819 NCBI chr16:58,707,131...58,734,316
Ensembl chr16:58,707,131...58,734,342
JBrowse link
early infantile epileptic encephalopathy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PCDH19 protocadherin 19 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 9
ClinVar Annotator: match by term: JUBERG-HELLMAN SYNDROME
ClinVar
OMIM
PMID:2267240 PMID:5116697 PMID:18234694 PMID:18414213 PMID:18469813 PMID:19214208 PMID:19377476 PMID:19752159 PMID:20713952 PMID:21053371 PMID:21480887 PMID:21519002 PMID:21777234 PMID:22050978 PMID:22267240 PMID:22504056 PMID:22848613 PMID:22946748 PMID:22949144 PMID:23066759 PMID:23334464 PMID:23712037 PMID:23808377 PMID:25326635 PMID:25499160 PMID:25741868 PMID:26467025 PMID:26544041 PMID:26765483 PMID:26954813 PMID:26993267 PMID:27143072 PMID:27179713 PMID:27527380 PMID:27787195 PMID:28492532 PMID:28669061 PMID:28837158 PMID:29056246 PMID:29358611 PMID:29377098 PMID:29655203 PMID:29933145 PMID:29933521 PMID:30287595 PMID:30530412 PMID:30828795 PMID:31319225 NCBI chr  X:100,291,644...100,410,273
Ensembl chr  X:100,291,644...100,410,273
JBrowse link
G SRPX2 sushi repeat containing protein X-linked 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 9 ClinVar PMID:23712037 PMID:27179713 PMID:28492532 PMID:29377098 NCBI chr  X:100,644,199...100,675,788
Ensembl chr  X:100,644,195...100,675,788
JBrowse link
G TNMD tenomodulin IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 9 ClinVar PMID:23712037 PMID:27179713 PMID:28492532 PMID:29377098 NCBI chr  X:100,584,936...100,599,885
Ensembl chr  X:100,584,936...100,599,885
JBrowse link
G TSPAN6 tetraspanin 6 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 9 ClinVar PMID:23712037 PMID:27179713 PMID:28492532 PMID:29377098 NCBI chr  X:100,627,108...100,637,104
Ensembl chr  X:100,627,108...100,639,991
JBrowse link
Early Infantile Epileptic Encephalopathy, 64 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RHOBTB2 Rho related BTB domain containing 2 IAGP ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64
ClinVar
OMIM
PMID:18298893 PMID:18835386 PMID:25741868 PMID:26740508 PMID:28492532 PMID:29276004 PMID:29768694 PMID:32581362 NCBI chr 8:22,987,251...23,020,199
Ensembl chr 8:22,987,417...23,020,199
JBrowse link
Early Infantile Epileptic Encephalopathy, 67 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CUX2 cut like homeobox 2 IAGP ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67 OMIM
ClinVar
PMID:20404132 PMID:23020937 PMID:25741868 PMID:28628100 PMID:29630738 PMID:29795476 NCBI chr12:111,034,165...111,350,556
Ensembl chr12:111,034,165...111,350,554
JBrowse link
G SH2B3 SH2B adaptor protein 3 IAGP ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67 ClinVar PMID:20404132 NCBI chr12:111,405,107...111,451,623
Ensembl chr12:111,405,923...111,451,623
Ensembl chr12:111,405,923...111,451,623
JBrowse link
Early Infantile Epileptic Encephalopathy, 68 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRAK1 trafficking kinesin protein 1 IAGP ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 ClinVar
OMIM
PMID:25741868 PMID:28364549 PMID:28940097 PMID:29846532 NCBI chr 3:42,013,802...42,225,890
Ensembl chr 3:42,013,802...42,225,890
JBrowse link
Early Infantile Epileptic Encephalopathy, 69 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1E calcium voltage-gated channel subunit alpha1 E IAGP ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 69
ClinVar
OMIM
PMID:17660294 PMID:23934111 PMID:25741868 PMID:30343943 NCBI chr 1:181,317,712...181,808,084
Ensembl chr 1:181,317,690...181,808,084
JBrowse link
Early Infantile Epileptic Encephalopathy, 70 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AL008729.1 novel transcript, antisense to PHACTR1 IAGP ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70 ClinVar PMID:23033978 PMID:30256902 NCBI chr 6:13,273,094...13,295,586
Ensembl chr 6:13,264,861...13,295,586
JBrowse link
G PHACTR1 phosphatase and actin regulator 1 IAGP ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70 ClinVar
OMIM
PMID:23033978 PMID:25741868 PMID:30256902 NCBI chr 6:12,716,635...13,290,462
Ensembl chr 6:12,716,554...13,287,843
Ensembl chr 6:12,716,554...13,287,843
JBrowse link
G TBC1D7 TBC1 domain family member 7 IAGP ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70 ClinVar PMID:23033978 PMID:30256902 NCBI chr 6:13,266,536...13,328,537
Ensembl chr 6:13,266,542...13,328,583
JBrowse link
Early Infantile Epileptic Encephalopathy, 71 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLS glutaminase IAGP ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 71 OMIM
ClinVar
PMID:25741868 PMID:30575854 NCBI chr 2:190,880,821...190,965,552
Ensembl chr 2:190,880,821...190,965,552
Ensembl chr 2:190,880,821...190,965,552
JBrowse link
Early Infantile Epileptic Encephalopathy, 72 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NEUROD2 neuronal differentiation 2 IAGP ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 72 OMIM
ClinVar
PMID:30323019 NCBI chr17:39,603,768...39,607,920
Ensembl chr17:39,603,536...39,609,777
JBrowse link
Early Infantile Epileptic Encephalopathy, 73 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RNF13 ring finger protein 13 IAGP ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 73 OMIM
ClinVar
PMID:30595371 NCBI chr 3:149,812,688...149,962,139
Ensembl chr 3:149,812,770...149,962,139
Ensembl chr 3:149,812,770...149,962,139
JBrowse link
Early Infantile Epileptic Encephalopathy, 74 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 74
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 74
OMIM
ClinVar
PMID:23708187 PMID:25726841 PMID:25730860 PMID:25741868 PMID:27864268 PMID:28460589 PMID:28492532 PMID:29100083 PMID:29358611 NCBI chr 5:162,067,465...162,155,539
Ensembl chr 5:162,000,057...162,162,977
JBrowse link
Early Infantile Epileptic Encephalopathy, 75 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PARS2 prolyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 75
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75
OMIM
ClinVar
PMID:22237560 PMID:25629079 PMID:25705216 PMID:25741868 PMID:27290639 PMID:28077841 PMID:29410512 PMID:29915213 PMID:30237576 PMID:32165824 NCBI chr 1:54,756,898...54,764,523
Ensembl chr 1:54,756,898...54,764,523
JBrowse link
Early Infantile Epileptic Encephalopathy, 76 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTL6B actin like 6B IAGP ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76 ClinVar
OMIM
PMID:25741868 PMID:26539891 PMID:30237576 PMID:30656450 PMID:31031012 NCBI chr 7:100,643,097...100,656,448
Ensembl chr 7:100,643,097...100,656,448
JBrowse link
Early Infantile Epileptic Encephalopathy, 77 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIGQ phosphatidylinositol glycan anchor biosynthesis class Q IAGP ClinVar Annotator: match by term: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 77
OMIM
ClinVar
PMID:24463883 PMID:25558065 PMID:25741868 PMID:27513193 PMID:28492532 PMID:31148362 NCBI chr16:569,968...584,109
Ensembl chr16:566,995...584,136
Ensembl chr16:566,995...584,136
JBrowse link
Early Infantile Epileptic Encephalopathy, 78 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GABRA2 gamma-aminobutyric acid type A receptor subunit alpha2 IAGP ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 78 OMIM
ClinVar
PMID:25741868 PMID:29422393 PMID:29961870 PMID:31032849 NCBI chr 4:46,243,548...46,390,300
Ensembl chr 4:46,243,548...46,475,230
Ensembl chr 4:46,243,548...46,475,230
JBrowse link
Early Infantile Epileptic Encephalopathy, 79 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 IAGP ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 79 OMIM
ClinVar
PMID:29961870 PMID:31056671 NCBI chr15:26,866,719...26,949,208
Ensembl chr15:26,866,911...26,949,208
JBrowse link
Early Infantile Epileptic Encephalopathy, 80 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCPG1 cell cycle progression 1 IAGP ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80 ClinVar NCBI chr15:55,355,239...55,408,359
Ensembl chr15:55,340,032...55,408,510
JBrowse link
G DNAAF4-CCPG1 DNAAF4-CCPG1 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80 ClinVar NCBI chr15:55,355,223...55,498,584
Ensembl chr15:55,355,248...55,498,360
JBrowse link
G PIGB phosphatidylinositol glycan anchor biosynthesis class B IAGP ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80 OMIM
ClinVar
PMID:17343268 PMID:25326635 PMID:25741868 PMID:31256876 NCBI chr15:55,318,939...55,355,648
Ensembl chr15:55,318,960...55,355,648
JBrowse link
G PIGBOS1 PIGB opposite strand 1 IAGP ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80 ClinVar PMID:17343268 PMID:31256876 NCBI chr15:55,317,184...55,348,725
Ensembl chr15:55,317,184...55,319,161
JBrowse link
Early Infantile Epileptic Encephalopathy, 81 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DMXL2 Dmx like 2 IAGP ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 81 ClinVar
OMIM
PMID:30237576 PMID:31688942 NCBI chr15:51,447,788...51,622,833
Ensembl chr15:51,447,711...51,622,833
JBrowse link
Early Infantile Epileptic Encephalopathy, 83 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UGP2 UDP-glucose pyrophosphorylase 2 IAGP ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 83 ClinVar
OMIM
PMID:31820119 NCBI chr 2:63,840,969...63,891,562
Ensembl chr 2:63,840,940...63,891,562
Ensembl chr 2:63,840,940...63,891,562
JBrowse link
Early Infantile Epileptic Encephalopathy, 84 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UGDH UDP-glucose 6-dehydrogenase IAGP ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 84 OMIM
ClinVar
PMID:25741868 PMID:32001716 PMID:32860008 NCBI chr 4:39,498,755...39,527,439
Ensembl chr 4:39,498,755...39,528,311
JBrowse link
Early Infantile Epileptic Encephalopathy, 85 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMC1A structural maintenance of chromosomes 1A IAGP ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 85, WITH OR WITHOUT MIDLINE BRAIN DEFECTS OMIM
ClinVar
PMID:25741868 PMID:26358754 PMID:26386245 PMID:26752331 PMID:28166369 PMID:30158690 PMID:31334757 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728
JBrowse link
Early Infantile Epileptic Encephalopathy, 86 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DALRD3 DALR anticodon binding domain containing 3 IAGP ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 86 OMIM
ClinVar
PMID:32427860 NCBI chr 3:49,015,399...49,021,505
Ensembl chr 3:49,015,488...49,022,293
JBrowse link
Early Infantile Epileptic Encephalopathy, 87 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMD1 adenosylmethionine decarboxylase 1 IAGP ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 87 ClinVar PMID:25741868 PMID:32330417 NCBI chr 6:110,814,617...110,895,713
Ensembl chr 6:110,874,770...110,898,879
JBrowse link
G CDK19 cyclin dependent kinase 19 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 87
OMIM
ClinVar
PMID:25741868 PMID:32330417 NCBI chr 6:110,609,978...110,816,531
Ensembl chr 6:110,609,978...110,815,958
JBrowse link
Early Infantile Epileptic Encephalopathy, 88 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MDH1 malate dehydrogenase 1 IAGP ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 88 ClinVar
OMIM
PMID:31538237 NCBI chr 2:63,588,963...63,607,197
Ensembl chr 2:63,588,609...63,607,197
JBrowse link
early myoclonic encephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G JMJD1C jumonji domain containing 1C IAGP ClinVar Annotator: match by term: Early myoclonic encephalopathy
ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
ClinVar PMID:22495311 PMID:26181491 PMID:28492532 NCBI chr10:63,167,221...63,521,890
Ensembl chr10:63,167,221...63,521,850
JBrowse link
G JMJD1C-AS1 JMJD1C antisense RNA 1 IAGP ClinVar Annotator: match by term: Early myoclonic encephalopathy ClinVar PMID:28492532 NCBI chr10:63,465,229...63,466,563
Ensembl chr10:63,465,229...63,466,563
JBrowse link
G KCND2 potassium voltage-gated channel subfamily D member 2 IAGP ClinVar Annotator: match by term: Early myoclonic encephalopathy ClinVar PMID:24501278 PMID:28492532 PMID:29581270 NCBI chr 7:120,273,175...120,750,337
Ensembl chr 7:120,273,175...120,750,337
JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
ClinVar Annotator: match by term: Early myoclonic encephalopathy
ClinVar PMID:10521305 PMID:10742094 PMID:11254444 PMID:11254445 PMID:11359211 PMID:11567038 PMID:12086636 PMID:12610651 PMID:12821740 PMID:14702334 PMID:14738421 PMID:16541393 PMID:17054684 PMID:17347258 PMID:17561957 PMID:18021921 PMID:18056581 PMID:18413471 PMID:18414213 PMID:18930999 PMID:19200853 PMID:19236456 PMID:19359143 PMID:19522081 PMID:19589774 PMID:19782004 PMID:20431604 PMID:20522430 PMID:20729507 PMID:20879882 PMID:21396429 PMID:21713554 PMID:21906962 PMID:22150645 PMID:22550089 PMID:22612257 PMID:22780858 PMID:23195492 PMID:23398611 PMID:23884151 PMID:24066114 PMID:24136861 PMID:24168886 PMID:25741868 PMID:26096185 PMID:26467025 PMID:26544041 PMID:26845707 PMID:26990884 PMID:27236449 PMID:27864847 PMID:28192756 PMID:28492532 PMID:29100083 PMID:29358611 PMID:30311386 NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214
JBrowse link
G SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 IAGP ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe ClinVar PMID:11254444 PMID:11254445 PMID:12821740 PMID:17054684 PMID:17347258 PMID:18021921 PMID:18056581 PMID:18413471 PMID:18414213 PMID:18930999 PMID:19359143 PMID:19522081 PMID:19589774 PMID:20729507 PMID:21396429 PMID:21713554 PMID:21906962 PMID:22550089 PMID:22780858 PMID:23195492 PMID:23398611 PMID:23884151 PMID:24066114 PMID:24136861 PMID:24168886 PMID:25741868 PMID:26096185 PMID:26467025 PMID:26544041 PMID:26990884 PMID:27864847 PMID:28492532 PMID:29358611 NCBI chr 2:165,957,418...166,036,400
Ensembl chr 2:165,957,188...166,390,771
JBrowse link
G SLC25A22 solute carrier family 25 member 22 IAGP ClinVar Annotator: match by term: Early myoclonic encephalopathy ClinVar PMID:15592994 PMID:18414213 PMID:19780765 PMID:24596948 PMID:25741868 PMID:26467025 PMID:27843123 PMID:28492532 NCBI chr11:790,475...798,281
Ensembl chr11:790,475...798,281
JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile ClinVar PMID:24033266 PMID:25741868 PMID:25769375 PMID:26371875 PMID:27281533 PMID:28292732 PMID:28428906 PMID:28492532 NCBI chr16:2,475,104...2,509,669
Ensembl chr16:2,475,051...2,509,560
JBrowse link
Familial Infantile Convulsions and Paroxysmal Choreoathetosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MVP major vault protein IAGP ClinVar Annotator: match by term: Infantile convulsions and paroxysmal choreoathetosis, familial ClinVar PMID:25741868 NCBI chr16:29,820,394...29,848,039
Ensembl chr16:29,820,394...29,848,039
JBrowse link
G PRRT2 proline rich transmembrane protein 2 IAGP ClinVar Annotator: match by term: Infantile convulsions and paroxysmal choreoathetosis, familial
ClinVar Annotator: match by term: PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS
ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial
ClinVar
OMIM
PMID:11179027 PMID:22101681 PMID:22120146 PMID:22131361 PMID:22209761 PMID:22243967 PMID:22399141 PMID:22623405 PMID:22744660 PMID:22782515 PMID:22832103 PMID:22845787 PMID:22870186 PMID:22875091 PMID:22877996 PMID:22985072 PMID:23077017 PMID:23077024 PMID:23077026 PMID:23126439 PMID:23180180 PMID:23182655 PMID:23299620 PMID:23343561 PMID:23352743 PMID:23532549 PMID:23535490 PMID:23768507 PMID:23771590 PMID:24074546 PMID:24370076 PMID:24465263 PMID:24609974 PMID:24661410 PMID:25457817 PMID:25502464 PMID:25522171 PMID:25595153 PMID:25667652 PMID:25741868 PMID:25915028 PMID:26384010 PMID:26446061 PMID:26467025 PMID:26544041 PMID:26561923 PMID:26598493 PMID:26598494 PMID:26621826 PMID:26717662 PMID:26876767 PMID:26993267 PMID:27123484 PMID:27173777 PMID:28074849 PMID:28492532 PMID:29334453 NCBI chr16:29,812,193...29,815,920
Ensembl chr16:29,811,382...29,815,892
JBrowse link
microcephaly, seizures, and developmental delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PNKP polynucleotide kina