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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:electroclinical syndrome
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Accession:DOID:0050701 term browser browse the term
Definition:An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep. (DO)
Synonyms:exact_synonym: electro-clinical syndrome
 primary_id: RDO:9002460
 alt_id: RDO:9002704
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
absence epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Absence seizures ClinVar PMID:11254445 PMID:18021921 PMID:21396429 PMID:22550089 PMID:22780858 PMID:23398611 PMID:25741868 PMID:26990884 PMID:28492532 PMID:29358611 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Absence seizures ClinVar PMID:25741868 NCBI chr 3:52,583,953...52,664,209
Ensembl chr 3:52,583,951...52,664,209
JBrowse link
Autosomal Recessive Infantile Epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnk2 tyrosine kinase, non-receptor, 2 ISO ClinVar Annotator: match by term: Autosomal recessive infantile epilepsy ClinVar PMID:23686771 PMID:25741868 PMID:26595808 NCBI chr11:71,348,726...71,388,520
Ensembl chr11:71,348,717...71,387,992
JBrowse link
benign epilepsy with centrotemporal spikes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asah1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:26467025 PMID:29358611 NCBI chr16:53,998,604...54,030,006
Ensembl chr16:53,998,560...54,040,836
JBrowse link
G Chd2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:28492532 PMID:29358611 NCBI chr 1:134,757,934...134,873,053
Ensembl chr 1:134,757,934...134,871,167
JBrowse link
G Cntnap2 contactin associated protein 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:18179895 PMID:22872700 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 PMID:29788201 NCBI chr 4:74,700,539...77,025,463 JBrowse link
G Cpa6 carboxypeptidase A6 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:21922598 PMID:23105115 PMID:25741868 PMID:26467025 PMID:26648591 PMID:28492532 PMID:28761347 PMID:29358611 PMID:32581362 NCBI chr 5:8,215,443...8,574,655
Ensembl chr 5:8,459,660...8,574,655
JBrowse link
G Cstb cystatin B ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:8596935 PMID:9054946 PMID:15329070 PMID:15483648 PMID:16155205 PMID:18028412 PMID:18925453 PMID:20078424 PMID:21757863 PMID:22936898 PMID:25741868 PMID:26843564 PMID:29358611 NCBI chr20:10,966,357...10,968,399
Ensembl chr20:10,966,331...10,968,432
JBrowse link
G Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:24591017 PMID:25366275 PMID:25741868 PMID:26505888 PMID:28492532 PMID:29358611 NCBI chr14:83,089,000...83,219,576
Ensembl chr14:83,089,000...83,219,464
JBrowse link
G Epm2a EPM2A glucan phosphatase, laforin ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 1:5,448,958...5,571,512
Ensembl chr 1:5,448,958...5,571,512
JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:23708187 PMID:25726841 PMID:25730860 PMID:27864268 PMID:28492532 PMID:29100083 PMID:29358611 NCBI chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900
JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 3:2,507,745...2,534,664
Ensembl chr 3:2,506,896...2,534,663
JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Rolandic epilepsy
CTD
ClinVar
PMID:7574460 PMID:18414213 PMID:23933818 PMID:23933819 PMID:23933820 PMID:25726841 PMID:25741868 PMID:25904555 PMID:26467025 PMID:26601054 PMID:27288002 PMID:28102150 PMID:28492532 PMID:29358611 NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990
JBrowse link
G Ier3ip1 immediate early response 3 interacting protein 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 4:132,140,802...132,152,059
Ensembl chr 4:132,140,802...132,151,740
JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Benign Rolandic epilepsy ClinVar PMID:18625963 NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
JBrowse link
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:18625963 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr 7:106,714,479...107,009,639
Ensembl chr 7:106,717,229...107,009,330
JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr 3:3,310,641...3,366,558
Ensembl chr 3:3,310,954...3,365,340
JBrowse link
G Maf MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532 PMID:29358611 NCBI chr19:48,179,826...48,200,995
Ensembl chr19:48,194,804...48,196,748
JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:18414213 PMID:19214208 PMID:19752159 PMID:20713952 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr  X:104,387,346...104,493,914
Ensembl chr  X:104,391,607...104,493,757
JBrowse link
G Plcb1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 3:127,721,244...128,419,565
Ensembl chr 3:128,155,069...128,419,545
JBrowse link
G Prickle1 prickle planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:21901791 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr 7:134,702,964...134,799,437
Ensembl chr 7:134,702,964...134,722,215
JBrowse link
G Prickle2 prickle planar cell polarity protein 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532 PMID:29358611 NCBI chr 4:124,238,167...124,584,176
Ensembl chr 4:124,238,167...124,338,176
JBrowse link
G Rbfox1 RNA binding fox-1 homolog 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:26467025 PMID:28346479 PMID:28492532 PMID:29358611 NCBI chr10:8,312,961...10,437,778
Ensembl chr10:8,312,961...8,654,892
JBrowse link
G Rbfox3 RNA binding fox-1 homolog 3 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr10:107,517,916...107,850,764
Ensembl chr10:107,516,995...107,539,658
JBrowse link
G Reln reelin ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:14515139 PMID:14593429 PMID:24828792 PMID:25620207 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr 4:9,347,533...9,774,257
Ensembl chr 4:9,347,528...9,773,670
JBrowse link
G Scarb2 scavenger receptor class B, member 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:28492532 PMID:29358611 NCBI chr14:17,064,173...17,115,620
Ensembl chr14:17,064,353...17,115,963
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:11254445 PMID:12610651 PMID:18021921 PMID:19200853 PMID:19522081 PMID:21396429 PMID:22550089 PMID:22780858 PMID:23195492 PMID:23398611 PMID:25741868 PMID:26990884 PMID:28492532 PMID:29358611 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 1:89,550,738...89,560,469
Ensembl chr 1:89,550,738...89,560,719
JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:28492532 PMID:29358611 NCBI chr 3:51,687,910...51,822,008
Ensembl chr 3:51,687,809...51,822,250
JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:18414213 PMID:20478850 PMID:24776970 PMID:24848745 PMID:25250524 PMID:25741868 PMID:28492532 PMID:29358611 NCBI chr 3:52,583,953...52,664,209
Ensembl chr 3:52,583,951...52,664,209
JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
JBrowse link
G Slc6a1 solute carrier family 6 member 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 4:146,258,842...146,292,176
Ensembl chr 4:146,276,862...146,292,213
JBrowse link
G Snip1 Smad nuclear interacting protein 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr15:19,275,273...19,282,753
Ensembl chr 5:143,063,099...143,070,884
JBrowse link
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25224718 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr 3:8,534,437...8,599,259
Ensembl chr 3:8,534,440...8,599,260
JBrowse link
G Strada STE20 related adaptor alpha ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr10:94,355,369...94,384,404
Ensembl chr10:94,355,384...94,384,339
JBrowse link
G Szt2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:28492532 PMID:29358611 NCBI chr 5:137,192,120...137,238,384
Ensembl chr 5:137,190,875...137,238,354
JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:24033266 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
JBrowse link
G Wwox WW domain-containing oxidoreductase ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr19:46,761,353...47,695,247 JBrowse link
benign familial infantile epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prrt2 proline-rich transmembrane protein 2 ISS OMIM:601764 | OMIM:605751 | OMIM:607745 | OMIM:612627 MouseDO NCBI chr 1:198,451,042...198,454,998
Ensembl chr 1:198,451,324...198,454,914
JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISS OMIM:601764 | OMIM:605751 | OMIM:607745 | OMIM:612627 MouseDO NCBI chr 3:51,687,910...51,822,008
Ensembl chr 3:51,687,809...51,822,250
JBrowse link
Benign Familial Infantile Seizures, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prrt2 proline-rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Seizures, benign familial infantile, 2
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:9579893 PMID:11179027 PMID:12953268 PMID:22101681 PMID:22120146 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 chr 1:198,451,042...198,454,998
Ensembl chr 1:198,451,324...198,454,914
JBrowse link
Benign Familial Infantile Seizures, 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar NCBI chr13:90,651,682...90,676,629
Ensembl chr13:90,651,686...90,676,629
JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Seizures, benign familial infantile, 3
ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3
DNA: missense mutation: exon 16 : p.N1001K
OMIM
ClinVar
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 3:51,687,910...51,822,008
Ensembl chr 3:51,687,809...51,822,250
JBrowse link
G Scn3a sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:21416599 PMID:21692795 PMID:21893419 PMID:23016767 PMID:23184456 PMID:26068938 PMID:27153334 PMID:28492532 NCBI chr 3:51,530,897...51,643,140
Ensembl chr 3:51,532,627...51,643,140
JBrowse link
Benign Familial Infantile Seizures, 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 ISO ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 5 ClinVar PMID:23020937 PMID:23934111 PMID:25740509 PMID:25741868 PMID:26350515 PMID:28135719 PMID:28492532 PMID:28628100 PMID:29655203 PMID:30578330 PMID:31177578 PMID:31238879 NCBI chr 7:106,714,479...107,009,639
Ensembl chr 7:106,717,229...107,009,330
JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Seizures, benign familial infantile, 5 ClinVar
OMIM
PMID:18414213 PMID:25741868 PMID:26677014 PMID:27210545 PMID:28492532 NCBI chr 7:142,575,629...142,683,659
Ensembl chr 7:142,575,672...142,684,114
JBrowse link
benign familial neonatal epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Benign familial neonatal seizures ClinVar PMID:18625963 PMID:19464834 NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
JBrowse link
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 ISO ClinVar Annotator: match by term: Benign familial neonatal 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 7:106,714,479...107,009,639
Ensembl chr 7:106,717,229...107,009,330
JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Benign familial neonatal-infantile seizures
ClinVar Annotator: match by term: Benign familial infantile convulsions
ClinVar PMID:11738931 PMID: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 3:51,687,910...51,822,008
Ensembl chr 3:51,687,809...51,822,250
JBrowse link
Benign Familial Neonatal Seizures, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Benign familial neonatal seizures 1
ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1, and/or myokymia
ClinVar Annotator: match by OMIM:121200
OMIM
ClinVar
PMID: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 chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
JBrowse link
Benign Familial Neonatal Seizures, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Benign familial neonatal seizures 2 ClinVar PMID:12742592 PMID:15249611 PMID:17129708 PMID:28492532 PMID:29314763 PMID:31199083 NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
JBrowse link
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 ISO ClinVar Annotator: match by term: Autosomal dominant form of benign neonatal seizures
ClinVar Annotator: match by term: Benign familial neonatal seizures 2
DNA:missense mutation:cds:p.W309R (human)
DNA:missense mutation:cds:p.G263V (human)
ClinVar Annotator: match by OMIM:121201
OMIM
ClinVar
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:10852552, PMID:9425900 RGD:9686433, RGD:9686418 NCBI chr 7:106,714,479...107,009,639
Ensembl chr 7:106,717,229...107,009,330
JBrowse link
Benign Neonatal Epilepsy 1, and/or Myokymia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Epilepsy, benign neonatal, 1, and/or myokymia ClinVar PMID:24375629 PMID:25741868 NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
JBrowse link
Benign Neonatal Epilepsy, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Benign Neonatal Epilepsy 1 ClinVar PMID:16916607 PMID:22275249 PMID:22926866 PMID:23621294 PMID:23692823 PMID:25741868 PMID:25959266 PMID:26544041 PMID:27535030 PMID:27602407 PMID:27779742 PMID:28492532 PMID:30185235 NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
JBrowse link
benign neonatal seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh7a1 aldehyde dehydrogenase 7 family, member A1 ISO ClinVar Annotator: match by term: neonatal seizures ClinVar PMID:16491085 PMID:20554659 PMID:21733724 PMID:25741868 PMID:28492532 NCBI chr18:51,619,007...51,651,267
Ensembl chr18:51,619,007...51,651,267
JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO RGD PMID:12953268 RGD:1358436 NCBI chr13:90,651,682...90,676,629
Ensembl chr13:90,651,686...90,676,629
JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19380078 PMID:26910900 NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
JBrowse link
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 ISO
ISS
ClinVar Annotator: match by term: Benign Neonatal Epilepsy
ClinVar Annotator: match by term: Benign familial neonatal seizures
OMIM:121200 | OMIM:121201 | OMIM:269720
ClinVar
MouseDO
PMID:16235065 PMID:17765802 PMID:18625963 PMID:19344764 PMID:21703448 PMID:23596459 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:106,714,479...107,009,639
Ensembl chr 7:106,717,229...107,009,330
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: neonatal seizures ClinVar PMID:14635118 PMID:16919951 PMID:20185557 PMID:21357833 PMID:21550804 PMID:21880868 PMID:25741868 PMID:28492532 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Epilepsy, benign neonatal-infantile ClinVar PMID:11738931 PMID: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 3:51,687,910...51,822,008
Ensembl chr 3:51,687,809...51,822,250
JBrowse link
childhood absence epilepsy 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
ISO
DNA:mutation:cds:752T>A (p.M251K)(rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:17196942, PMID:17196942 RGD:1598976 NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
JBrowse link
G Cacna1agry calcium voltage-gated channel subunit alpha1 A; groggy mutant IAGP RGD PMID:17196942 RGD:1598976
G Cacna1h calcium voltage-gated channel subunit alpha1 H susceptibility ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 6
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 6
ClinVar
CTD
OMIM
PMID:12891677 PMID:14729682 PMID:15048902 PMID:15852375 PMID:15888660 PMID:17696120 PMID:25741868 PMID:26467025 PMID:28492532, PMID:12891677 RGD:1358447 NCBI chr10:14,730,932...14,789,201
Ensembl chr10:14,730,941...14,788,617
JBrowse link
G Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14660671 NCBI chr 8:116,154,661...116,285,643
Ensembl chr 8:116,154,736...116,284,985
JBrowse link
G Cacng2 calcium voltage-gated channel auxiliary subunit gamma 2 IEP mRNA,protein:increased expression:somatosensory cortex, primary motor cortex RGD PMID:18556211 RGD:13524553 NCBI chr 7:119,228,112...119,353,332
Ensembl chr 7:119,228,102...119,352,605
JBrowse link
G Cacng3 calcium voltage-gated channel auxiliary subunit gamma 3 ISO RGD PMID:11904235 RGD:728397 NCBI chr 1:192,613,766...192,708,371
Ensembl chr 1:192,613,372...192,709,078
JBrowse link
G Efhc1 EF-hand domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:27,068,505...27,107,713
Ensembl chr 9:27,068,443...27,107,709
JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 ISO ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 4 ClinVar PMID:16530959 PMID:16569738 PMID:16718694 PMID:24623842 PMID:25741868 PMID:26467025 PMID:26918889 PMID:27521439 PMID:28251550 PMID:28492532 NCBI chr10:27,310,718...27,371,802
Ensembl chr10:27,310,725...27,366,665
JBrowse link
G Gabra6 gamma-aminobutyric acid type A receptor subunit alpha6 ISO ClinVar Annotator: match by term: Childhood absence epilepsy ClinVar PMID:28492532 NCBI chr10:27,847,447...27,862,896
Ensembl chr10:27,847,439...27,862,868
JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 susceptibility ISO DNA:SNPs
ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:612269
OMIM
ClinVar
CTD
PMID:18514161 PMID:19935738 PMID:20550555 PMID:24088041 PMID:25726841 PMID:25741868 PMID:26467025 PMID:26633545 PMID:26845707 PMID:26950270 PMID:28492532, PMID:16835263 RGD:1601269 NCBI chr 1:113,034,251...113,265,364
Ensembl chr 1:112,976,770...113,265,364
JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO DNA:snp:intron:IVS6+2T>G (human) RGD PMID:12117362 RGD:1358631 NCBI chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900
JBrowse link
G Glud1 glutamate dehydrogenase 1 IEP protein:increased expression:thalamus RGD PMID:10975907 RGD:6484590 NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
JBrowse link
G Grik1 glutamate ionotropic receptor kainate type subunit 1 ISO RGD PMID:9259378 RGD:1358334 NCBI chr11:27,811,954...28,213,940
Ensembl chr11:27,811,957...27,971,359
JBrowse link
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 IEP RGD PMID:15182313 RGD:9686420 NCBI chr 2:50,099,576...50,499,799
Ensembl chr 2:50,099,576...50,499,799
JBrowse link
G Htr7 5-hydroxytryptamine receptor 7 IMP RGD PMID:15050708 RGD:6480686 NCBI chr 1:254,547,964...254,671,811
Ensembl chr 1:254,547,620...254,671,778
JBrowse link
G Jrk Jrk helix-turn-helix protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11463517 NCBI chr 7:115,941,788...115,946,471
Ensembl chr 7:115,942,743...115,946,425
JBrowse link
G Kcnk9 potassium two pore domain channel subfamily K member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15781965 NCBI chr 7:113,894,918...113,938,397
Ensembl chr 7:113,903,557...113,937,941
JBrowse link
G Lgi4 leucine-rich repeat LGI family, member 4 ISO DNA:point mutation: :c.1914G>A (human) RGD PMID:14505228 RGD:1302591 NCBI chr 1:89,491,588...89,502,939
Ensembl chr 1:89,491,654...89,502,974
JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP RGD PMID:20303372 RGD:8547934 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Npy neuropeptide Y treatment ISO
IDA
RGD PMID:17331209, PMID:24039965 RGD:10448963, RGD:10448964 NCBI chr 4:79,557,856...79,565,059
Ensembl chr 4:79,557,854...79,565,097
JBrowse link
G Npy1r neuropeptide Y receptor Y1 treatment IDA RGD PMID:17331209 RGD:10448963 NCBI chr16:24,779,480...24,789,131
Ensembl chr16:24,779,477...24,788,740
JBrowse link
G Npy2r neuropeptide Y receptor Y2 treatment IDA RGD PMID:17331209 RGD:10448963 NCBI chr 2:181,528,949...181,538,145
Ensembl chr 2:181,530,832...181,531,978
JBrowse link
G Npy5r neuropeptide Y receptor Y5 treatment IDA RGD PMID:17331209 RGD:10448963 NCBI chr16:24,796,685...24,805,730
Ensembl chr16:24,797,124...24,805,079
JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Childhood absence epilepsy ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:89,550,738...89,560,469
Ensembl chr 1:89,550,738...89,560,719
JBrowse link
G Slc2a1 solute carrier family 2 member 1 onset ISO DNA:deletion, missense mutations, SNP:multiple RGD PMID:26537434 RGD:11058811 NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
JBrowse link
G Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta IEP protein:increased expression:parietal lobe RGD PMID:21310218 RGD:9587483 NCBI chr 7:75,573,553...75,598,295
Ensembl chr 7:75,574,967...75,597,276
JBrowse link
Childhood Absence Epilepsy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp10a ATPase phospholipid transporting 10A (putative) ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 1 ClinVar PMID:11198279 PMID:28492532 NCBI chr 1:115,973,343...116,141,892
Ensembl chr 1:115,975,324...116,141,892
JBrowse link
G Gabra5 gamma-aminobutyric acid type A receptor subunit alpha 5 ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 1 ClinVar PMID:11198279 PMID:28492532 NCBI chr 1:112,833,941...112,947,482
Ensembl chr 1:112,833,944...112,947,451
JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 1
ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 1
ClinVar PMID:2828157 PMID:11198279 PMID:11742254 PMID:12189488 PMID:18514161 PMID:19935738 PMID:20550555 PMID:23495136 PMID:23934111 PMID:24909990 PMID:25533962 PMID:25726841 PMID:25741868 PMID:25849321 PMID:26068938 PMID:26467025 PMID:26704558 PMID:26845707 PMID:26950270 PMID:27476654 PMID:27622563 PMID:28053010 PMID:28281572 PMID:28492532 PMID:28544625 PMID:28607477 PMID:29961870 NCBI chr 1:113,034,251...113,265,364
Ensembl chr 1:112,976,770...113,265,364
JBrowse link
G Rorb RAR-related orphan receptor B ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 1 ClinVar PMID:25950944 NCBI chr 1:234,252,757...234,442,597
Ensembl chr 1:234,252,757...234,435,839
JBrowse link
Childhood Absence Epilepsy 2 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 gamma 2 ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 2 ClinVar PMID:11326274 PMID:11326275 PMID:11748509 PMID:12097483 PMID:12117362 PMID:12477709 PMID:15342642 PMID:15470132 PMID:15866052 PMID:16510738 PMID:16924025 PMID:17148443 PMID:18094250 PMID:18414213 PMID:18566737 PMID:20485450 PMID:20551311 PMID:21425109 PMID:22190369 PMID:22539854 PMID:22750526 PMID:23708187 PMID:23720301 PMID:23935098 PMID:24407264 PMID:24480790 PMID:24630281 PMID:24811917 PMID:25726841 PMID:25730860 PMID:25731747 PMID:25741868 PMID:26467025 PMID:27066572 PMID:27334371 PMID:27340224 PMID:27367160 PMID:27864268 PMID:27899622 PMID:28460589 PMID:28492532 PMID:29100083 PMID:29358611 PMID:29778030 NCBI chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900
JBrowse link
childhood electroclinical syndrome 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 ISS MouseDO NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
JBrowse link
congenital disorder of glycosylation type IIm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,610,230...15,616,727
Ensembl chr  X:15,598,652...15,617,665
JBrowse link
G Eras ES cell expressed Ras ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,318,215...15,322,601
Ensembl chr  X:15,419,028...15,423,414
Ensembl chr  X:15,419,028...15,423,414
JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,273,937...15,281,759
Ensembl chr  X:15,378,789...15,382,066
JBrowse link
G Glod5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,225,645...15,240,458
Ensembl chr  X:15,225,645...15,240,329
JBrowse link
G Gripap1 GRIP1 associated protein 1 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,523,929...15,553,702
Ensembl chr  X:15,523,929...15,553,720
JBrowse link
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,295,372...15,316,673
Ensembl chr  X:15,295,473...15,316,671
JBrowse link
G Kcnd1 potassium voltage-gated channel subfamily D member 1 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,506,724...15,520,712
Ensembl chr  X:15,506,724...15,520,712
JBrowse link
G Otud5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,471,212...15,504,372
Ensembl chr  X:15,471,211...15,504,165
JBrowse link
G Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,324,263...15,327,705 JBrowse link
G Pim2 Pim-2 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,462,621...15,467,890
Ensembl chr  X:15,462,016...15,467,875
JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,448,570...15,453,130
Ensembl chr  X:15,348,138...15,453,130
JBrowse link
G Praf2 PRA1 domain family, member 2 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,618,324...15,620,992
Ensembl chr  X:15,618,991...15,620,841
JBrowse link
G Slc35a2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: SLC35A2-CDG
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar Annotator: match by OMIM:300896
OMIM
ClinVar
PMID:23561849 PMID:24115232 PMID:25741868 PMID:26350515 PMID:26467025 PMID:28492532 PMID:28771251 PMID:29907092 PMID:30817854 NCBI chr  X:15,453,184...15,461,990
Ensembl chr  X:15,453,186...15,461,713
JBrowse link
G Suv39h1 suppressor of variegation 3-9 homolog 1 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:146,532,002...146,533,538 JBrowse link
G Tfe3 transcription factor binding to IGHM enhancer 3 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,574,579...15,587,826
Ensembl chr  X:15,575,934...15,587,419
JBrowse link
G Timm17b translocase of inner mitochondrial membrane 17b ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,441,369...15,448,452
Ensembl chr  X:15,441,651...15,448,403
JBrowse link
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,155,246...15,164,099
Ensembl chr  X:15,155,230...15,164,105
JBrowse link
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,621,249...15,627,159
Ensembl chr  X:15,621,209...15,627,235
JBrowse link
dentatorubral-pallidoluysian atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atn1 atrophin 1 ISO OMIM NCBI chr 4:157,267,394...157,281,199
Ensembl chr 4:157,267,901...157,274,755
Ensembl chr 9:157,267,901...157,274,755
JBrowse link
Developmental and Epileptic Encephalopathy 89 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gad1 glutamate decarboxylase 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 OMIM
ClinVar
PMID:32282878 NCBI chr 3:56,861,440...56,902,139
Ensembl chr 3:56,861,396...56,902,157
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 gamma 2 ISO ClinVar Annotator: match by term: Dravet syndrome ClinVar NCBI chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO 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 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Dravet syndrome
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar PMID:21698661 PMID:23895530 PMID:25250524 PMID:25741868 PMID:26467025 PMID:28235406 PMID:28440294 PMID:28492532 PMID:29264398 NCBI chr 3:52,583,953...52,664,209
Ensembl chr 3:52,583,951...52,664,209
JBrowse link
G Snx27 sorting nexin 27 ISO ClinVar Annotator: match by term: Dravet syndrome ClinVar PMID:28492532 NCBI chr 2:195,738,613...195,821,608
Ensembl chr 2:195,738,619...195,821,608
JBrowse link
early infantile epileptic encephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd16b abhydrolase domain containing 16B ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,985,900...176,987,797
Ensembl chr 3:176,985,900...176,987,796
JBrowse link
G Ak1 adenylate kinase 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,652,143...11,659,135 JBrowse link
G Arfrp1 ADP-ribosylation factor related protein 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,857,667...176,865,105
Ensembl chr 3:176,859,151...176,865,103
JBrowse link
G Arhgef15 Rho guanine nucleotide exchange factor 15 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:23647072 PMID:25741868 PMID:28492532 NCBI chr10:55,532,097...55,545,675
Ensembl chr10:55,532,077...55,544,429
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:62,363,757...62,376,139
Ensembl chr  X:62,363,757...62,376,143
JBrowse link
G Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18487195 PMID:23339110 PMID:24358150 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30410802 NCBI chr 8:116,154,661...116,285,643
Ensembl chr 8:116,154,736...116,284,985
JBrowse link
G Cdhr5 cadherin-related family member 5 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,255,118...214,263,848
Ensembl chr 1:214,255,110...214,263,581
JBrowse link
G Cdk9 cyclin-dependent kinase 9 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,742,269...11,747,117
Ensembl chr 3:11,742,266...11,747,113
JBrowse link
G Cend1 cell cycle exit and neuronal differentiation 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,407,072...214,410,069
Ensembl chr 1:214,408,100...214,408,549
JBrowse link
G Cercam cerebral endothelial cell adhesion molecule ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:8,421,116...8,444,743
Ensembl chr 3:8,430,829...8,444,851
JBrowse link
G Cfap157 cilia and flagella associated protein 157 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,813,575...11,820,549
Ensembl chr 3:11,813,575...11,820,549
JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,533,182...176,547,965
Ensembl chr 3:176,527,516...176,548,208
JBrowse link
G Ciz1 CDKN1A interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,392,046...11,409,218
Ensembl chr 3:11,392,791...11,410,180
JBrowse link
G Coq4 coenzyme Q4 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:8,349,386...8,357,719
Ensembl chr 3:8,349,185...8,357,871
JBrowse link
G Csrnp3 cysteine and serine rich nuclear protein 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28492532 NCBI chr 3:51,883,559...52,120,290
Ensembl chr 3:51,883,559...52,120,290
JBrowse link
G Cyb561d2 cytochrome b561 family, member D2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18487195 PMID:23339110 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 8:116,295,328...116,297,879
Ensembl chr 8:116,295,329...116,297,858
JBrowse link
G Deaf1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,283,787...214,317,466
Ensembl chr 1:214,283,790...214,317,466
JBrowse link
G Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:177,012,714...177,047,787
Ensembl chr 3:177,013,604...177,043,902
JBrowse link
G Dnm1 dynamin 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,338,081...11,382,043
Ensembl chr 3:11,338,083...11,382,043
JBrowse link
G Dpm2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,587,941...11,590,528
Ensembl chr 3:11,587,941...11,590,528
JBrowse link
G Drd4 dopamine receptor D4 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,278,296...214,282,818
Ensembl chr 1:214,278,296...214,281,483
JBrowse link
G Eef1a2 eukaryotic translation elongation factor 1 alpha 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,657,104...176,666,282
Ensembl chr 3:176,657,107...176,666,282
JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
JBrowse link
G Eps8l2 EPS8-like 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,327,992...214,353,466
Ensembl chr 1:214,328,071...214,353,461
JBrowse link
G Fam102a family with sequence similarity 102, member A ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,554,084...11,586,315
Ensembl chr 3:11,554,457...11,586,303
JBrowse link
G Fndc11 fibronectin type III domain containing 11 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,721,100...176,724,736
Ensembl chr 3:176,721,827...176,725,837
JBrowse link
G Fpgs folylpolyglutamate synthase ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,717,667...11,729,694
Ensembl chr 3:11,717,667...11,723,327
JBrowse link
G Gabra2 gamma-aminobutyric acid type A receptor subunit alpha 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:29422393 NCBI chr14:39,662,411...39,801,082
Ensembl chr14:39,661,968...39,798,302
JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28492532 NCBI chr 3:52,174,469...52,212,395
Ensembl chr 3:52,175,547...52,212,412
JBrowse link
G Gatd1 glutamine amidotransferase like class 1 domain containing 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,389,006...214,394,451
Ensembl chr 1:214,389,255...214,394,411
JBrowse link
G Gle1 GLE1 RNA export mediator ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:8,498,098...8,530,218
Ensembl chr 3:8,498,122...8,526,771
JBrowse link
G Gmeb2 glucocorticoid modulatory element binding protein 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,756,006...176,791,960
Ensembl chr 3:176,753,860...176,791,960
JBrowse link
G Gnao1 G protein subunit alpha o1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:23993195 PMID:25741868 PMID:25966631 PMID:26060304 PMID:26467025 PMID:26485252 PMID:27068059 PMID:27072799 PMID:27625011 PMID:27864847 PMID:28202424 PMID:28357411 PMID:28492532 PMID:28688840 PMID:28747448 PMID:28817111 PMID:29390993 PMID:32581362 NCBI chr19:11,513,201...11,669,578
Ensembl chr19:11,513,201...11,669,578
JBrowse link
G Golga2 golgin A2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,317,328...11,337,569
Ensembl chr 3:11,317,183...11,336,458
JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:25741868 PMID:31422819 NCBI chr19:9,587,637...9,613,323
Ensembl chr19:9,587,653...9,613,340
JBrowse link
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:20437590 PMID:22131395 PMID:24747641 PMID:25678871 PMID:25741868 PMID:26073591 PMID:26467025 PMID:28488083 PMID:28492532 NCBI chr 2:50,099,576...50,499,799
Ensembl chr 2:50,099,576...50,499,799
JBrowse link
G Helz2 helicase with zinc finger 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,730,024...176,744,382
Ensembl chr 3:176,731,769...176,744,377
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
JBrowse link
G Irf7 interferon regulatory factor 7 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,249,388...214,252,909
Ensembl chr 1:214,248,837...214,252,456
JBrowse link
G Kcnb1 potassium voltage-gated channel subfamily B member 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy
ClinVar Annotator: match by term: developmental encephalopathy with epilepsy
ClinVar PMID:25741868 PMID:26477325 PMID:28252636 PMID:28492532 PMID:28806457 PMID:29264397 PMID:32581362 NCBI chr 3:163,850,785...163,935,610
Ensembl chr 3:163,850,785...163,935,617
JBrowse link
G Kcnh5 potassium voltage-gated channel subfamily H member 5 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:23647072 PMID:24133262 PMID:25741868 PMID:28492532 NCBI chr 6:97,872,831...98,157,087
Ensembl chr 6:97,872,831...98,157,087
JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO 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 chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
JBrowse link
G Lcn2 lipocalin 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,414,189...11,417,534
Ensembl chr 3:11,414,186...11,417,546
JBrowse link
G Lime1 Lck interacting transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,881,881...176,888,230
Ensembl chr 3:176,882,027...176,884,350
JBrowse link
G Lmntd2 lamin tail domain containing 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,197,126...214,202,828
Ensembl chr 1:214,196,430...214,202,853
JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,182,232...214,197,184
Ensembl chr 1:214,182,830...214,197,184
JBrowse link
G Mir210 microRNA 210 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,208,355...214,208,464 JBrowse link
G Mir2964 microRNA 2964 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:8,407,427...8,407,526
Ensembl chr 3:8,407,427...8,407,526
JBrowse link
G Naif1 nuclear apoptosis inducing factor 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,476,330...11,482,629
Ensembl chr 3:11,476,883...11,481,744
JBrowse link
G Odf2 outer dense fiber of sperm tails 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:8,449,733...8,495,764
Ensembl chr 3:8,450,275...8,496,008
JBrowse link
G Phrf1 PHD and ring finger domains 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,215,673...214,248,906
Ensembl chr 1:214,215,992...214,248,901
JBrowse link
G Pigp phosphatidylinositol glycan anchor biosynthesis, class P ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28334793 PMID:31139695 PMID:32042915 NCBI chr11:34,592,128...34,598,253
Ensembl chr11:34,592,121...34,598,275
JBrowse link
G Pip5kl1 phosphatidylinositol-4-phosphate 5-kinase-like 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,592,156...11,597,513
Ensembl chr 3:11,593,655...11,597,410
JBrowse link
G Ppdpf pancreatic progenitor cell differentiation and proliferation factor ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,690,507...176,692,272
Ensembl chr 3:176,691,329...176,692,271
JBrowse link
G Ptges2 prostaglandin E synthase 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,424,195...11,431,379
Ensembl chr 3:11,424,099...11,431,402
JBrowse link
G Ptk6 protein tyrosine kinase 6 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,698,305...176,706,896
Ensembl chr 3:176,698,305...176,706,896
JBrowse link
G Ptrh1 peptidyl-tRNA hydrolase 1 homolog ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,811,303...11,817,007
Ensembl chr 3:11,811,962...11,825,640
JBrowse link
G Rassf7 Ras association domain family member 7 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,202,722...214,205,799
Ensembl chr 1:214,203,861...214,205,782
JBrowse link
G RGD1561113 similar to Hypothetical UPF0184 protein C9orf16 homolog ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,408,076...11,410,907
Ensembl chr 3:11,408,348...11,410,732
JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,818,012...176,856,531
Ensembl chr 3:176,818,437...176,856,531
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO 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 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28492532 NCBI chr 3:51,687,910...51,822,008
Ensembl chr 3:51,687,809...51,822,250
JBrowse link
G Scn3a sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28492532 NCBI chr 3:51,530,897...51,643,140
Ensembl chr 3:51,532,627...51,643,140
JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISS
ISO
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
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
MouseDO
ClinVar
PMID:12374766 PMID:15525788 PMID:15800189 PMID:17881658 PMID:18414213 PMID:19465131 PMID:20869590 PMID:22365152 PMID:23020937 PMID:24874546 PMID:24888894 PMID:25046240 PMID:25227913 PMID:25239001 PMID:25326635 PMID:25326637 PMID:25568300 PMID:25741868 PMID:25785782 PMID:25849321 PMID:25951352 PMID:26029160 PMID:26220391 PMID:26235739 PMID:26297079 PMID:26467025 PMID:26647175 PMID:26900580 PMID:26993267 PMID:27210545 PMID:27779742 PMID:27781031 PMID:27864847 PMID:27875746 PMID:27900360 PMID:28387369 PMID:28492532 PMID:28676574 PMID:28702509 PMID:28735751 PMID:28923014 PMID:29100083 PMID:29121005 PMID:29186148 PMID:29432985 PMID:29588952 PMID:29655203 PMID:29720203 PMID:30109124 PMID:30171078 PMID:30615093 NCBI chr 7:142,575,629...142,683,659
Ensembl chr 7:142,575,672...142,684,114
JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28202706 PMID:28492532 NCBI chr 3:52,583,953...52,664,209
Ensembl chr 3:52,583,951...52,664,209
JBrowse link
G Sct secretin ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,264,865...214,277,437
Ensembl chr 1:214,264,754...214,265,668
JBrowse link
G Sh2d3c SH2 domain containing 3C ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,756,427...11,793,547
Ensembl chr 3:11,756,384...11,793,593
JBrowse link
G Slc25a22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18414213 PMID:25741868 PMID:26467025 PMID:27843123 PMID:28255779 PMID:28492532 NCBI chr 1:214,410,388...214,418,236
Ensembl chr 1:214,410,417...214,414,897
JBrowse link
G Slc25a25 solute carrier family 25 member 25 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,442,396...11,476,186
Ensembl chr 3:11,442,397...11,452,529
JBrowse link
G Slc27a4 solute carrier family 27 member 4 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:8,363,937...8,376,858
Ensembl chr 3:8,363,937...8,376,858
JBrowse link
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18414213 PMID:18469812 PMID:22258530 PMID:25224718 PMID:25741868 PMID:26467025 PMID:26539891 PMID:26704558 PMID:26865513 PMID:28199897 PMID:28492532 PMID:29264391 PMID:29358611 PMID:29655203 NCBI chr 3:8,534,437...8,599,259
Ensembl chr 3:8,534,440...8,599,260
JBrowse link
G Srms src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,709,742...176,716,146
Ensembl chr 3:176,709,743...176,716,146
JBrowse link
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18414213 PMID:23252400 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:136,765,309...136,965,642
Ensembl chr 5:136,766,208...136,965,191
JBrowse link
G St6galnac4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,607,103...11,619,595
Ensembl chr 3:11,607,225...11,619,593
JBrowse link
G St6galnac6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,620,050...11,641,460
Ensembl chr 3:11,629,556...11,641,466
JBrowse link
G Stmn3 stathmin 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,808,016...176,816,108
Ensembl chr 3:176,808,017...176,816,162
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18414213 PMID:18469812 PMID:19557857 PMID:20876469 PMID:20887364 PMID:21762454 PMID:21770924 PMID:22211739 PMID:22495311 PMID:22722545 PMID:23409955 PMID:23662938 PMID:23708187 PMID:23757202 PMID:23934111 PMID:24033266 PMID:24189369 PMID:24315539 PMID:24623842 PMID:24781210 PMID:25008876 PMID:25131622 PMID:25356970 PMID:25418441 PMID:25497044 PMID:25556537 PMID:25693842 PMID:25714420 PMID:25741868 PMID:26384463 PMID:26467025 PMID:26514728 PMID:26544041 PMID:26633542 PMID:26648591 PMID:26795593 PMID:26865513 PMID:26918652 PMID:26993267 PMID:27069701 PMID:27171548 PMID:27184330 PMID:27779742 PMID:28133863 PMID:28387360 PMID:28387369 PMID:28492532 PMID:28628100 PMID:28947817 PMID:29186148 PMID:29264391 PMID:29314583 PMID:29896790 PMID:30109124 PMID:31255830 PMID:31474318 PMID:32238909 PMID:32581362 NCBI chr 3:11,823,779...11,885,479
Ensembl chr 3:11,823,785...11,885,417
JBrowse link
G Swi5 SWI5 homologous recombination repair protein ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,307,981...11,317,049
Ensembl chr 3:11,307,981...11,317,049
JBrowse link
G Taldo1 transaldolase 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,375,555...214,385,886
Ensembl chr 1:214,375,515...214,385,885
JBrowse link
G Tmem80 transmembrane protein 80 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,317,300...214,326,293
Ensembl chr 1:214,317,682...214,326,294
JBrowse link
G Tor2a torsin family 2, member A ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,794,731...11,800,261
Ensembl chr 3:11,795,629...11,799,693
JBrowse link
G Tpd52l2 TPD52 like 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,989,333...177,009,425
Ensembl chr 3:176,989,672...177,008,419
JBrowse link
G Trub2 TruB pseudouridine synthase family member 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:8,338,479...8,348,746
Ensembl chr 3:8,338,484...8,348,746
JBrowse link
G Ttc16 tetratricopeptide repeat domain 16 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,799,788...11,811,600
Ensembl chr 3:11,799,612...11,810,901
JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28492532 NCBI chr 3:52,286,794...52,361,060
Ensembl chr 3:52,286,794...52,361,060
JBrowse link
G Uba5 ubiquitin-like modifier activating enzyme 5 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24033266 PMID:25741868 PMID:27545674 PMID:27545681 PMID:27926783 PMID:28492532 PMID:28965491 PMID:29286531 NCBI chr 8:112,578,607...112,594,192
Ensembl chr 8:112,578,590...112,594,261
JBrowse link
G Urm1 ubiquitin related modifier 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:8,389,024...8,405,868
Ensembl chr 3:8,389,024...8,405,868
JBrowse link
G Zbtb46 zinc finger and BTB domain containing 46 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,888,502...176,959,009
Ensembl chr 3:176,890,806...176,958,880
JBrowse link
G Zgpat zinc finger CCCH-type and G-patch domain containing ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,865,078...176,881,603
Ensembl chr 3:176,865,156...176,881,549
JBrowse link
early infantile epileptic encephalopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr  X:115,561,329...115,589,792
Ensembl chr  X:115,561,332...115,619,505
JBrowse link
G Arx aristaless related homeobox ISO 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 Annotator: match by OMIM:308350
ClinVar Annotator: match by null
OMIM
ClinVar
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:17664401, PMID:19587282 RGD:11565846, RGD:11565838 NCBI chr  X:62,363,757...62,376,139
Ensembl chr  X:62,363,757...62,376,143
JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
JBrowse link
G Ccnf cyclin F ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 PMID:26467025 PMID:27259978 PMID:27281533 PMID:28301460 PMID:28492532 PMID:29358611 NCBI chr10:13,594,687...13,619,935
Ensembl chr10:13,594,687...13,619,935
JBrowse link
G Csnk1e casein kinase 1, epsilon ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar NCBI chr 7:120,651,976...120,675,559
Ensembl chr 7:120,651,881...120,672,359
JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr 1:113,034,251...113,265,364
Ensembl chr 1:112,976,770...113,265,364
JBrowse link
G Gnao1 G protein subunit alpha o1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr19:11,513,201...11,669,578
Ensembl chr19:11,513,201...11,669,578
JBrowse link
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24747641 NCBI chr 2:50,099,576...50,499,799
Ensembl chr 2:50,099,576...50,499,799
JBrowse link
G Kcna2 potassium voltage-gated channel subfamily A member 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:8663992 PMID:8663993 PMID:15694325 PMID:16002579 PMID:21044565 PMID:25477152 PMID:25741868 PMID:25751627 PMID:27733563 PMID:28492532 NCBI chr 2:209,838,607...209,852,471
Ensembl chr 2:209,838,869...209,852,471
JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
JBrowse link
G Maf MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 PMID:29390993 NCBI chr19:48,179,826...48,200,995
Ensembl chr19:48,194,804...48,196,748
JBrowse link
G Napb NSF attachment protein beta ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar NCBI chr 3:143,017,571...143,063,904
Ensembl chr 3:143,020,454...143,063,983
JBrowse link
G Nrxn2 neurexin 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar NCBI chr 1:221,792,191...221,908,047
Ensembl chr 1:221,792,221...221,908,049
JBrowse link
G Plcb1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr 3:127,721,244...128,419,565
Ensembl chr 3:128,155,069...128,419,545
JBrowse link
G Pola1 DNA polymerase alpha 1, catalytic subunit ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr  X:62,382,604...62,698,830
Ensembl chr  X:62,382,608...62,698,830
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
JBrowse link
G Slc35a2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr  X:15,453,184...15,461,990
Ensembl chr  X:15,453,186...15,461,713
JBrowse link
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr 5:136,765,309...136,965,642
Ensembl chr 5:136,766,208...136,965,191
JBrowse link
G Synj1 synaptojanin 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr11:31,105,784...31,181,573
Ensembl chr11:31,104,787...31,180,642
JBrowse link
G Szt2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:137,192,120...137,238,384
Ensembl chr 5:137,190,875...137,238,354
JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1
ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome
ClinVar PMID:10574461 PMID:16855591 PMID:18414213 PMID:20727515 PMID:22277662 PMID:23184456 PMID:23526554 PMID:23806086 PMID:24033266 PMID:24088043 PMID:24291220 PMID:24387994 PMID:24848745 PMID:25169651 PMID:25557349 PMID:25719194 PMID:25741868 PMID:25769375 PMID:26207815 PMID:26371875 PMID:26467025 PMID:26668325 PMID:27259978 PMID:27281533 PMID:27502353 PMID:27541164 PMID:28072960 PMID:28292732 PMID:28301460 PMID:28428906 PMID:28492532 PMID:28663785 PMID:29100083 PMID:29358611 PMID:29671961 PMID:30108545 PMID:30180405 PMID:30311386 PMID:30335140 PMID:31112829 PMID:31257402 NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
JBrowse link
G Wwox WW domain-containing oxidoreductase ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome
ClinVar PMID: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 chr19:46,761,353...47,695,247 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 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 11
ClinVar Annotator: match by OMIM:613721
OMIM
ClinVar
PMID:11326335 PMID:11738931 PMID:15028761 PMID:15048894 PMID: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 3:51,687,910...51,822,008
Ensembl chr 3:51,687,809...51,822,250
JBrowse link
early infantile epileptic encephalopathy 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plcb1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12
ClinVar Annotator: match by OMIM:613722
OMIM
ClinVar
PMID:9305844 PMID:18414213 PMID:20833646 PMID:22690784 PMID:24684524 PMID:24747189 PMID:25741868 PMID:25950944 PMID:26467025 PMID:26818157 PMID:28492532 NCBI chr 3:127,721,244...128,419,565
Ensembl chr 3:128,155,069...128,419,545
JBrowse link
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 ClinVar PMID:10446192 PMID:11112660 PMID:15381417 PMID:18414213 PMID:20118933 PMID:22508754 PMID:23224214 PMID:23708187 PMID:24033266 PMID:25558065 PMID:25728773 PMID:25741868 PMID:26467025 PMID:26993267 PMID:27066567 PMID:27066586 PMID:27232581 PMID:28492532 PMID:29056246 PMID:29261713 PMID:29498415 PMID:29655203 PMID:29720203 PMID:29924869 PMID:30039206 PMID:31061747 NCBI chr 1:100,853,475...100,859,202
Ensembl chr 1:100,853,902...100,859,084
JBrowse link
early infantile epileptic encephalopathy 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 13
ClinVar Annotator: match by OMIM:614558
OMIM
ClinVar
PMID:12374766 PMID:15525788 PMID:15800189 PMID:17881658 PMID:18414213 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 chr 7:142,575,629...142,683,659
Ensembl chr 7:142,575,672...142,684,114
JBrowse link
early infantile epileptic encephalopathy 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camsap1 calmodulin regulated spectrin-associated protein 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:28492532 NCBI chr 3:3,373,971...3,434,027
Ensembl chr 3:3,373,971...3,434,027
JBrowse link
G Card9 caspase recruitment domain family, member 9 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:28492532 NCBI chr 3:3,798,346...3,806,841
Ensembl chr 3:3,798,347...3,806,713
JBrowse link
G Dnlz DNL-type zinc finger ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:28492532 NCBI chr 3:3,796,480...3,798,467
Ensembl chr 3:3,796,480...3,798,239
JBrowse link
G Entr1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:28492532 NCBI chr 3:3,827,498...3,834,219
Ensembl chr 3:3,827,498...3,834,210
JBrowse link
G Gpsm1 G-protein signaling modulator 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:28492532 NCBI chr 3:3,767,394...3,794,360
Ensembl chr 3:3,767,394...3,794,359
JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:28492532 NCBI chr 3:3,843,307...3,856,154
Ensembl chr 3:3,843,307...3,855,981
JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14
ClinVar Annotator: match by OMIM:614959
OMIM
ClinVar
PMID: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 3:3,310,641...3,366,558
Ensembl chr 3:3,310,954...3,365,340
JBrowse link
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:28492532 NCBI chr 3:3,653,861...3,662,509
Ensembl chr 3:3,654,755...3,661,810
JBrowse link
G Nacc2 NACC family member 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:28492532 NCBI chr 3:3,508,084...3,574,787
Ensembl chr 3:3,510,041...3,574,787
JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:28492532 NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
G Pmpca peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:28492532 NCBI chr 3:3,834,262...3,842,061
Ensembl chr 3:3,834,078...3,842,078
JBrowse link
G Qsox2 quiescin sulfhydryl oxidase 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:28492532 NCBI chr 3:3,662,324...3,691,972
Ensembl chr 3:3,662,324...3,691,972
JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Malignant migrating partial seizures of infancy ClinVar PMID:25741868 NCBI chr 3:51,687,910...51,822,008
Ensembl chr 3:51,687,809...51,822,250
JBrowse link
G Sec16a SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:28492532 NCBI chr 3:3,856,218...3,890,785
Ensembl chr 3:3,856,218...3,890,758
JBrowse link
G Snapc4 small nuclear RNA activating complex, polypeptide 4 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:28492532 NCBI chr 3:3,808,596...3,827,425
Ensembl chr 3:3,809,407...3,824,284
JBrowse link
G Tmem250 transmembrane protein 250 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:28492532 NCBI chr 3:3,590,783...3,594,475
Ensembl chr 3:3,590,783...3,594,475
JBrowse link
G Ubac1 UBA domain containing 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar PMID:28492532 NCBI chr 3:3,453,396...3,476,242
Ensembl chr 3:3,453,401...3,476,215
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 ISO 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 5:136,765,309...136,965,642
Ensembl chr 5:136,766,208...136,965,191
JBrowse link
early infantile epileptic encephalopathy 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 16 OMIM
ClinVar
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 chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
JBrowse link
early infantile epileptic encephalopathy 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnao1 G protein subunit alpha o1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 17
ClinVar Annotator: match by OMIM:615473
OMIM
ClinVar
PMID:18414213 PMID:23993195 PMID:25741868 PMID:25966631 PMID:26060304 PMID:27068059 PMID:27072799 PMID:27625011 PMID:27864847 PMID:28202424 PMID:28357411 PMID:28492532 PMID:28688840 PMID:28747448 PMID:29961512 PMID:32581362 NCBI chr19:11,513,201...11,669,578
Ensembl chr19:11,513,201...11,669,578
JBrowse link
early infantile epileptic encephalopathy 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Szt2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 18
ClinVar Annotator: match by OMIM:615476
OMIM
ClinVar
PMID:23932106 PMID:25741868 PMID:28492532 PMID:29358611 PMID:30564332 PMID:30818181 NCBI chr 5:137,192,120...137,238,384
Ensembl chr 5:137,190,875...137,238,354
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 alpha 1 ISO ClinVar Annotator: match by OMIM:615744
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 chr10:27,310,718...27,371,802
Ensembl chr10:27,310,725...27,366,665
JBrowse link
early infantile epileptic encephalopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bend2 BEN domain containing 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 NCBI chr  X:35,151,376...35,200,501 JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 severity ISO ClinVar Annotator: match by OMIM:300672
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2
ClinVar Annotator: match by term: INFANTILE SPASM SYNDROME, X-LINKED 2
DNA:mutations:cds:
ClinVar
OMIM
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:35,536,396...35,773,204
Ensembl chr  X:35,599,258...35,771,711
JBrowse link
G Nhs NHS actin remodeling regulator ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 NCBI chr  X:34,312,102...34,675,912
Ensembl chr  X:34,623,405...34,673,742
JBrowse link
G Rai2 retinoic acid induced 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 NCBI chr  X:34,731,891...34,794,589
Ensembl chr  X:34,731,891...34,794,589
JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2
ClinVar Annotator: match by term: INFANTILE SPASM SYNDROME, X-LINKED 2
ClinVar PMID:15499549 PMID:16813600 PMID:18076117 PMID:18414213 PMID:18564362 PMID:19241098 PMID:19428276 PMID:19780792 PMID:20479760 PMID:20493745 PMID:21160487 PMID:21770923 PMID:21775177 PMID:21802232 PMID:22867051 PMID:23184456 PMID:23242510 PMID:23828526 PMID:25315662 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29264392 PMID:29655203 NCBI chr  X:35,749,957...35,777,243
Ensembl chr  X:35,749,957...35,777,243
JBrowse link
G Scml1 Scm polycomb group protein like 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 NCBI chr  X:34,676,728...34,694,251 JBrowse link
G Scml2 Scm polycomb group protein like 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 NCBI chr  X:35,305,235...35,431,271
Ensembl chr  X:35,305,236...35,431,164
JBrowse link
early infantile epileptic encephalopathy 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3ar1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 4:155,681,767...155,691,240
Ensembl chr 4:155,684,029...155,690,869
JBrowse link
G Clec4b2 C-type lectin domain family 4, member B2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 4:156,107,720...156,131,226
Ensembl chr 4:156,107,620...156,131,583
JBrowse link
G Dppa3 developmental pluripotency-associated 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 4:155,437,675...155,441,059
Ensembl chr 3:111,298,713...111,299,189
Ensembl chr 4:111,298,713...111,299,189
JBrowse link
G Foxj2 forkhead box J2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 4:155,653,446...155,679,815
Ensembl chr 4:155,653,718...155,679,793
JBrowse link
G Gdf3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 4:155,417,667...155,422,014
Ensembl chr 4:155,417,004...155,421,998
JBrowse link
G Nanog Nanog homeobox ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 4:155,531,906...155,539,268
Ensembl chr 4:155,531,906...155,539,268
JBrowse link
G Necap1 NECAP endocytosis associated 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 OMIM
ClinVar
PMID:24399846 PMID:25558065 PMID:25741868 PMID:28492532 PMID:30525121 PMID:30626896 NCBI chr 4:155,709,712...155,724,801
Ensembl chr 4:155,709,613...155,724,790
JBrowse link
G Slc2a3 solute carrier family 2 member 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 ClinVar PMID:28492532 NCBI chr 4:155,549,991...155,626,018
Ensembl chr 4:155,408,233...155,631,856
JBrowse link
early infantile epileptic encephalopathy 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dock7 dedicator of cytokinesis 7 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 23
ClinVar Annotator: match by OMIM:615859
OMIM
ClinVar
PMID:24814191 PMID:25363768 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:117,595,194...117,780,844
Ensembl chr 5:117,596,136...117,780,777
JBrowse link
early infantile epileptic encephalopathy 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 24 ClinVar
OMIM
PMID:24747641 PMID:25741868 PMID:28492532 PMID:30351409 NCBI chr 2:50,099,576...50,499,799
Ensembl chr 2:50,099,576...50,499,799
JBrowse link
early infantile epileptic encephalopathy 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr10:58,599,690...58,631,194
Ensembl chr10:58,599,856...58,608,907
JBrowse link
G LOC100912483 uncharacterized LOC100912483 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr10:58,784,444...58,787,713
Ensembl chr10:58,784,660...58,785,043
JBrowse link
G Med31 mediator complex subunit 31 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr10:58,780,987...58,784,369
Ensembl chr10:58,780,597...58,784,374
JBrowse link
G Pimreg PICALM interacting mitotic regulator ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr10:58,613,588...58,618,524
Ensembl chr10:58,613,674...58,618,514
JBrowse link
G Pitpnm3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr10:58,618,679...58,722,679
Ensembl chr10:58,618,645...58,693,754
JBrowse link
G RGD1304728 similar to 4933427D14Rik protein ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr10:58,726,721...58,776,718
Ensembl chr10:58,729,306...58,771,908
JBrowse link
G Slc13a5 solute carrier family 13 member 5 ISO 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 chr10:58,806,581...58,835,549
Ensembl chr10:58,810,058...58,834,538
JBrowse link
G Txndc17 thioredoxin domain containing 17 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 ClinVar PMID:28492532 NCBI chr10:58,776,792...58,779,764
Ensembl chr10:58,776,792...58,779,764
JBrowse link
early infantile epileptic encephalopathy 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arfgef2 ADP ribosylation factor guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 26 ClinVar PMID:28492532 NCBI chr 3:163,570,435...163,656,612
Ensembl chr 3:163,570,532...163,656,626
JBrowse link
G Cse1l chromosome segregation 1 like ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 26 ClinVar PMID:28492532 NCBI chr 3:163,664,074...163,702,074
Ensembl chr 3:163,664,136...163,702,060
JBrowse link
G Ddx27 DEAD-box helicase 27 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 26 ClinVar PMID:28492532 NCBI chr 3:163,767,236...163,786,408
Ensembl chr 3:163,767,173...163,786,445
JBrowse link
G Kcnb1 potassium voltage-gated channel subfamily B member 1 ISO 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 chr 3:163,850,785...163,935,610
Ensembl chr 3:163,850,785...163,935,617
JBrowse link
G Stau1 staufen double-stranded RNA binding protein 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 26 ClinVar PMID:28492532 NCBI chr 3:163,703,204...163,748,996
Ensembl chr 3:163,703,204...163,748,996
JBrowse link
G Znfx1 zinc finger, NFX1-type containing 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 26 ClinVar PMID:28492532 NCBI chr 3:163,787,101...163,847,671
Ensembl chr 3:163,787,101...163,847,671
JBrowse link
early infantile epileptic encephalopathy 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 27
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27
OMIM
ClinVar
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 chr 4:169,541,620...170,000,216
Ensembl chr 4:169,560,387...169,999,873
JBrowse link
G Mbd5 methyl-CpG binding domain protein 5 ISO ClinVar Annotator: match by term: developmental delay with intractable seizures ClinVar PMID:28492532 NCBI chr 3:33,364,812...33,504,144
Ensembl chr 3:33,440,191...33,504,238
JBrowse link
early infantile epileptic encephalopathy 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ncf2 neutrophil cytosolic factor 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 28 ClinVar PMID:16937026 PMID:23821607 PMID:25741868 PMID:28492532 NCBI chr13:70,226,441...70,259,019
Ensembl chr13:70,226,647...70,257,576
JBrowse link
G Wwox WW domain-containing oxidoreductase ISO 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 chr19:46,761,353...47,695,247 JBrowse link
early infantile epileptic encephalopathy 29 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars1 alanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 29 OMIM
ClinVar
PMID:25741868 PMID:25817015 PMID:28492532 PMID:28493438 PMID:29653220 NCBI chr19:43,193,264...43,215,281
Ensembl chr19:43,193,257...43,215,281
JBrowse link
early infantile epileptic encephalopathy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 3 OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr 1:214,410,388...214,418,236
Ensembl chr 1:214,410,417...214,414,897
JBrowse link
early infantile epileptic encephalopathy 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agpat3 1-acylglycerol-3-phosphate O-acyltransferase 3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr20:11,060,584...11,144,806
Ensembl chr20:11,114,164...11,144,806
JBrowse link
G Cstb cystatin B ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr20:10,966,357...10,968,399
Ensembl chr20:10,966,331...10,968,432
JBrowse link
G Gatd3a glutamine amidotransferase like class 1 domain containing 3A ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr20:11,244,353...11,252,450
Ensembl chr20:11,244,353...11,252,449
JBrowse link
G Hsf2bp heat shock transcription factor 2 binding protein ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr20:10,757,172...10,844,177
Ensembl chr20:10,757,854...10,844,178
JBrowse link
G Pwp2 PWP2, small subunit processome component ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr20:11,228,892...11,243,204
Ensembl chr20:11,228,844...11,243,205
JBrowse link
G Rrp1 ribosomal RNA processing 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr20:10,982,016...10,993,260
Ensembl chr20:10,981,998...10,993,280
JBrowse link
G Rrp1b ribosomal RNA processing 1B ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr20:10,844,234...10,869,830
Ensembl chr20:10,844,266...10,869,821
JBrowse link
G Sik1 salt-inducible kinase 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar
OMIM
PMID:25741868 PMID:25839329 PMID:26467025 PMID:28492532 PMID:30315573 NCBI chr20:10,670,747...10,680,279
Ensembl chr20:10,668,411...10,680,283
JBrowse link
G Trappc10 trafficking protein particle complex 10 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 ClinVar PMID:28492532 NCBI chr20:11,168,298...11,228,634
Ensembl chr20:11,168,298...11,228,625
JBrowse link
early infantile epileptic encephalopathy 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ciz1 CDKN1A interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:8335685 PMID:10608808 PMID:11031245 PMID:11553700 PMID:19084268 PMID:23977156 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28667181 PMID:29668686 NCBI chr 3:11,392,046...11,409,218
Ensembl chr 3:11,392,791...11,410,180
JBrowse link
G Dnm1 dynamin 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 OMIM
ClinVar
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 3:11,338,081...11,382,043
Ensembl chr 3:11,338,083...11,382,043
JBrowse link
early infantile epileptic encephalopathy 32 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcna2 potassium voltage-gated channel subfamily A member 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 32 OMIM
ClinVar
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 2:209,838,607...209,852,471
Ensembl chr 2:209,838,869...209,852,471
JBrowse link
early infantile epileptic encephalopathy 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eef1a2 eukaryotic translation elongation factor 1 alpha 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33
ClinVar Annotator: match by term: EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy
OMIM
ClinVar
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 chr 3:176,657,104...176,666,282
Ensembl chr 3:176,657,107...176,666,282
JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 ClinVar PMID:27441201 PMID:28492532 NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
JBrowse link
G Ppdpf pancreatic progenitor cell differentiation and proliferation factor ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 ClinVar PMID:28492532 NCBI chr 3:176,690,507...176,692,272
Ensembl chr 3:176,691,329...176,692,271
JBrowse link
early infantile epileptic encephalopathy 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc12a5 solute carrier family 12 member 5 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 34 OMIM
ClinVar
PMID:24668262 PMID:24928908 PMID:25741868 PMID:26333769 PMID:27436767 PMID:27535533 PMID:28492532 PMID:30763027 NCBI chr 3:161,433,303...161,465,078
Ensembl chr 3:161,425,988...161,462,879
JBrowse link
early infantile epileptic encephalopathy 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itpa inosine triphosphatase ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 35 OMIM
ClinVar
PMID:25741868 PMID:26224535 PMID:28492532 PMID:30856165 NCBI chr 3:123,209,611...123,221,266
Ensembl chr 3:123,209,608...123,221,269
JBrowse link
early infantile epileptic encephalopathy 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: CDG Is
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 36
ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Is
ClinVar Annotator: match by OMIM:300884
OMIM
ClinVar
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:115,561,329...115,589,792
Ensembl chr  X:115,561,332...115,619,505
JBrowse link
G Dcx doublecortin ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 36 ClinVar PMID:28492532 NCBI chr  X:115,098,675...115,175,515
Ensembl chr  X:115,098,675...115,175,299
JBrowse link
early infantile epileptic encephalopathy 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Frrs1l ferric-chelate reductase 1-like ISO 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 5:73,997,958...74,029,381
Ensembl chr 5:74,000,227...74,029,238
JBrowse link
early infantile epileptic encephalopathy 38 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arv1 ARV1 homolog, fatty acid homeostasis modulator ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 38
ClinVar
OMIM
PMID:25558065 PMID:25741868 PMID:27270415 PMID:32165008 NCBI chr19:57,484,720...57,496,539
Ensembl chr19:57,484,634...57,496,695
JBrowse link
early infantile epileptic encephalopathy 39 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a12 solute carrier family 25 member 12 ISO ClinVar Annotator: match by term: Hypomyelination, global cerebral
ClinVar Annotator: match by OMIM:612949
OMIM
ClinVar
PMID:19641205 PMID:24515575 PMID:24973975 PMID:25741868 PMID:28492532 NCBI chr 3:57,881,951...57,998,214
Ensembl chr 3:57,882,370...57,957,346
JBrowse link
early infantile epileptic encephalopathy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 4 ClinVar PMID:25741868 NCBI chr  X:35,536,396...35,773,204
Ensembl chr  X:35,599,258...35,771,711
JBrowse link
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 4 ClinVar PMID:25741868 NCBI chr 3:11,970,401...12,009,463
Ensembl chr 3:11,972,813...12,007,570
JBrowse link
G Niban2 niban apoptosis regulator 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 4 ClinVar PMID:25741868 NCBI chr 3:11,921,715...11,971,327
Ensembl chr 3:11,921,715...11,971,327
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO 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
DNA:deletions, nonsense mutation, splice-site mutations:exon, intron:multiple
ClinVar Annotator: match by OMIM:612164
OMIM
ClinVar
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:18469812, PMID:20876469 RGD:12903960, RGD:11068998 NCBI chr 3:11,823,779...11,885,479
Ensembl chr 3:11,823,785...11,885,417
JBrowse link
early infantile epileptic encephalopathy 40 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Guf1 GTP binding elongation factor GUF1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 40 ClinVar
OMIM
PMID:26486472 NCBI chr14:62,609,484...62,628,862
Ensembl chr14:62,609,484...62,628,862
JBrowse link
early infantile epileptic encephalopathy 41 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc1a2 solute carrier family 1 member 2 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 41
ClinVar
OMIM
PMID:23107647 PMID:23934111 PMID:24214974 PMID:25741868 PMID:27476654 PMID:28777935 NCBI chr 3:92,518,679...92,665,731
Ensembl chr 3:92,640,752...92,665,644
JBrowse link
early infantile epileptic encephalopathy 42 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO 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 chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42 ClinVar PMID:25741868 NCBI chr 2:221,823,692...222,694,627
Ensembl chr 2:221,823,687...222,694,627
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 beta 3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 43 ClinVar
OMIM
PMID:23934111 PMID:25741868 PMID:28492532 NCBI chr 1:113,034,251...113,265,364
Ensembl chr 1:112,976,770...113,265,364
JBrowse link
early infantile epileptic encephalopathy 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Uba5 ubiquitin-like modifier activating enzyme 5 ISO ClinVar Annotator: match by OMIM:617132
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 44
ClinVar
OMIM
PMID:24033266 PMID:25741868 PMID:27545674 PMID:27545681 PMID:27926783 PMID:28492532 PMID:28965491 PMID:29286531 NCBI chr 8:112,578,607...112,594,192
Ensembl chr 8:112,578,590...112,594,261
JBrowse link
early infantile epileptic encephalopathy 45 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabrb1 gamma-aminobutyric acid type A receptor subunit beta1 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 45
ClinVar
OMIM
PMID:23934111 PMID:25741868 PMID:26950270 PMID:27273810 PMID:31618474 NCBI chr14:38,631,192...39,112,598
Ensembl chr14:38,643,385...39,112,600
JBrowse link
early infantile epileptic encephalopathy 46 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grin2d glutamate ionotropic receptor NMDA type subunit 2D ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 46
ClinVar
OMIM
PMID:25741868 PMID:27616483 PMID:30280376 PMID:32860008 NCBI chr 1:101,819,068...101,859,146
Ensembl chr 1:101,820,461...101,856,881
JBrowse link
early infantile epileptic encephalopathy 47 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf12 fibroblast growth factor 12 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 47 ClinVar
OMIM
PMID:25741868 PMID:27164707 PMID:27830185 PMID:27872899 NCBI chr11:75,606,360...76,171,078
Ensembl chr11:75,905,443...76,168,989
JBrowse link
early infantile epileptic encephalopathy 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3b2 adaptor related protein complex 3 subunit beta 2 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 48
ClinVar
OMIM
PMID:18414213 PMID:25741868 PMID:27431290 PMID:27889060 NCBI chr 1:143,284,041...143,315,846
Ensembl chr 1:143,283,996...143,315,633
JBrowse link
early infantile epileptic encephalopathy 49 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dennd5a DENN domain containing 5A ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 49
ClinVar
OMIM
PMID:25741868 PMID:27431290 PMID:27866705 NCBI chr 1:174,524,047...174,588,553
Ensembl chr 1:174,524,047...174,588,529
JBrowse link
early infantile epileptic encephalopathy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 5
ClinVar Annotator: match by OMIM:613477
OMIM
ClinVar
PMID:18414213 PMID:20493457 PMID:22258530 PMID:25741868 PMID:26467025 PMID:26539891 PMID:28492532 PMID:29358611 PMID:31474318 PMID:32963807 NCBI chr 3:8,534,437...8,599,259
Ensembl chr 3:8,534,440...8,599,260
JBrowse link
early infantile epileptic encephalopathy 50 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 50
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1z
OMIM
ClinVar
PMID:25678555 PMID:25741868 PMID:28007989 PMID:28492532 NCBI chr 6:26,657,507...26,680,459
Ensembl chr 6:26,657,780...26,680,284
JBrowse link
early infantile epileptic encephalopathy 51 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mdh2 malate dehydrogenase 2 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 51
ClinVar
OMIM
PMID:25741868 PMID:27989324 NCBI chr12:23,941,451...23,954,406
Ensembl chr12:23,941,448...23,954,431
JBrowse link
early infantile epileptic encephalopathy 52 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 52
ClinVar
OMIM
PMID:19710327 PMID:21994374 PMID:22155597 PMID:22155598 PMID:22284586 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 chr 1:89,550,738...89,560,469
Ensembl chr 1:89,550,738...89,560,719
JBrowse link
early infantile epileptic encephalopathy 53 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Synj1 synaptojanin 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 53 OMIM
ClinVar
PMID:25741868 PMID:27435091 PMID:28492532 PMID:32214227 NCBI chr11:31,105,784...31,181,573
Ensembl chr11:31,104,787...31,180,642
JBrowse link
early infantile epileptic encephalopathy 54 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnrnpu heterogeneous nuclear ribonucleoprotein U ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54
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 chr13:96,222,093...96,238,845
Ensembl chr13:96,225,912...96,238,572
JBrowse link
early infantile epileptic encephalopathy 55 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigp phosphatidylinositol glycan anchor biosynthesis, class P ISO 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 chr11:34,592,128...34,598,253
Ensembl chr11:34,592,121...34,598,275
JBrowse link
early infantile epileptic encephalopathy 56 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ywhag tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56 ClinVar
OMIM
PMID:23934111 PMID:25741868 PMID:28777935 NCBI chr12:23,789,547...23,817,884
Ensembl chr12:23,789,638...23,817,883
JBrowse link
early infantile epileptic encephalopathy 57 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnt2 potassium sodium-activated channel subfamily T member 2 ISO 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 chr13:57,130,855...57,520,263
Ensembl chr13:57,131,395...57,521,836
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 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58 OMIM
ClinVar
PMID:25741868 PMID:29100083 NCBI chr17:5,934,651...6,245,778
Ensembl chr17:5,933,729...6,244,676
JBrowse link
early infantile epileptic encephalopathy 59 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 ISO 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 5:62,276,100...62,621,737
Ensembl chr 5:62,276,100...62,621,737
JBrowse link
early infantile epileptic encephalopathy 60 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnpy3 canopy FGF signaling regulator 3 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 60 ClinVar
OMIM
PMID:25741868 PMID:29394991 NCBI chr 9:16,543,715...16,558,441
Ensembl chr 9:16,543,688...16,558,456
JBrowse link
early infantile epileptic encephalopathy 61 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam22 ADAM metallopeptidase domain 22 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 61 ClinVar
OMIM
PMID:27066583 NCBI chr 4:22,864,485...23,002,969
Ensembl chr 4:22,859,622...22,996,645
JBrowse link
early infantile epileptic encephalopathy 62 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn3a sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 62 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29466837 PMID:29740860 NCBI chr 3:51,530,897...51,643,140
Ensembl chr 3:51,532,627...51,643,140
JBrowse link
early infantile epileptic encephalopathy 63 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cplx1 complexin 1 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63 ClinVar
OMIM
PMID:25741868 PMID:26539891 PMID:28422131 NCBI chr14:2,194,895...2,226,610
Ensembl chr14:2,194,933...2,226,598
JBrowse link
early infantile epileptic encephalopathy 65 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyfip2 cytoplasmic FMR1 interacting protein 2 ISO 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 chr10:31,278,746...31,419,235
Ensembl chr10:31,278,746...31,419,235
JBrowse link
early infantile epileptic encephalopathy 66 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pacs2 phosphofurin acidic cluster sorting protein 2 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 OMIM
ClinVar
PMID:25741868 PMID:28628100 PMID:28867141 PMID:29656858 NCBI chr 6:137,824,136...137,889,144
Ensembl chr 6:137,824,213...137,887,418
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 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 7
ClinVar Annotator: match by term: Early infantile 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 Annotator: match by OMIM:613720
OMIM
ClinVar
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 chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
JBrowse link
G Nexmif neurite extension and migration factor ISO ClinVar Annotator: match by term: Continuous spike and waves during slow-wave sleep syndrome ClinVar PMID:25741868 PMID:27358180 PMID:28492532 PMID:29693785 NCBI chr  X:74,943,440...75,053,559
Ensembl chr  X:74,945,082...74,968,405
JBrowse link
early infantile epileptic encephalopathy 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgef9 Cdc42 guanine nucleotide exchange factor 9 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 8
ClinVar Annotator: match by OMIM:300607
OMIM
ClinVar
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:64,249,576...64,428,444
Ensembl chr  X:64,248,278...64,428,592
JBrowse link
early infantile epileptic encephalopathy 82 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Got2 glutamic-oxaloacetic transaminase 2 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 82 OMIM
ClinVar
PMID:25741868 PMID:31422819 NCBI chr19:9,587,637...9,613,323
Ensembl chr19:9,587,653...9,613,340
JBrowse link
early infantile epileptic encephalopathy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 9
ClinVar Annotator: match by term: JUBERG-HELLMAN SYNDROME
ClinVar Annotator: match by OMIM:300088
OMIM
ClinVar
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:104,387,346...104,493,914
Ensembl chr  X:104,391,607...104,493,757
JBrowse link
G Srpx2 sushi-repeat-containing protein, X-linked 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 9 ClinVar PMID:23712037 PMID:27179713 PMID:28492532 PMID:29377098 NCBI chr  X:104,734,035...104,760,658
Ensembl chr  X:104,734,082...104,760,547
JBrowse link
G Tnmd tenomodulin ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 9 ClinVar PMID:23712037 PMID:27179713 PMID:28492532 PMID:29377098 NCBI chr  X:104,684,676...104,700,173
Ensembl chr  X:104,684,676...104,700,173
JBrowse link
G Tspan6 tetraspanin 6 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 9 ClinVar PMID:23712037 PMID:27179713 PMID:28492532 PMID:29377098 NCBI chr  X:104,719,930...104,729,606
Ensembl chr  X:104,719,940...104,726,816
JBrowse link
Early Infantile Epileptic Encephalopathy, 64 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rhobtb2 Rho-related BTB domain containing 2 ISO 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 chr15:51,465,148...51,485,562
Ensembl chr15:51,465,148...51,485,692
JBrowse link
Early Infantile Epileptic Encephalopathy, 67 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cux2 cut-like homeobox 2 ISO 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 chr12:40,016,774...40,221,067
Ensembl chr12:40,018,937...40,219,291
JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67 ClinVar PMID:20404132 NCBI chr12:40,261,990...40,265,757
Ensembl chr12:40,244,081...40,265,757
JBrowse link
Early Infantile Epileptic Encephalopathy, 68 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trak1 trafficking kinesin protein 1 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 ClinVar
OMIM
PMID:25741868 PMID:28364549 PMID:28940097 PMID:29846532 NCBI chr 8:129,946,596...130,106,382
Ensembl chr 8:130,009,573...130,106,382
JBrowse link
Early Infantile Epileptic Encephalopathy, 69 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1e calcium voltage-gated channel subunit alpha1 E ISO 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 chr13:71,899,445...72,534,992
Ensembl chr13:71,906,702...72,367,980
JBrowse link
Early Infantile Epileptic Encephalopathy, 70 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phactr1 phosphatase and actin regulator 1 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70 ClinVar
OMIM
PMID:23033978 PMID:25741868 PMID:30256902 NCBI chr17:23,245,423...23,761,207 JBrowse link
G Tbc1d7 TBC1 domain family, member 7 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70 ClinVar PMID:23033978 PMID:30256902 NCBI chr17:23,774,793...23,792,389
Ensembl chr17:23,775,220...23,792,353
JBrowse link
Early Infantile Epileptic Encephalopathy, 71 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gls glutaminase ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 71 OMIM
ClinVar
PMID:25741868 PMID:30575854 NCBI chr 9:54,212,622...54,284,879
Ensembl chr 9:54,212,767...54,284,872
JBrowse link
Early Infantile Epileptic Encephalopathy, 72 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Neurod2 neuronal differentiation 2 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 72 OMIM
ClinVar
PMID:30323019 NCBI chr10:86,280,865...86,282,681
Ensembl chr10:86,280,892...86,282,693
JBrowse link
Early Infantile Epileptic Encephalopathy, 73 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf13 ring finger protein 13 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 73 OMIM
ClinVar
PMID:30595371 NCBI chr 2:147,853,423...147,948,277
Ensembl chr 2:147,853,423...148,039,132
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 gamma 2 ISO 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 chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900
JBrowse link
Early Infantile Epileptic Encephalopathy, 75 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pars2 prolyl-tRNA synthetase 2, mitochondrial ISO 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 5:126,254,090...126,259,204
Ensembl chr 5:126,254,142...126,259,200
JBrowse link
Early Infantile Epileptic Encephalopathy, 76 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actl6b actin-like 6B ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76 ClinVar
OMIM
PMID:25741868 PMID:26539891 PMID:30237576 PMID:30656450 PMID:31031012 NCBI chr12:22,194,595...22,211,107
Ensembl chr12:22,194,618...22,211,080
JBrowse link
Early Infantile Epileptic Encephalopathy, 77 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigq phosphatidylinositol glycan anchor biosynthesis, class Q ISO 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 chr10:15,289,530...15,305,593
Ensembl chr10:15,289,536...15,305,549
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 alpha 2 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 78 OMIM
ClinVar
PMID:25741868 PMID:29422393 PMID:29961870 PMID:31032849 NCBI chr14:39,662,411...39,801,082
Ensembl chr14:39,661,968...39,798,302
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 alpha 5 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 79 OMIM
ClinVar
PMID:29961870 PMID:31056671 NCBI chr 1:112,833,941...112,947,482
Ensembl chr 1:112,833,944...112,947,451
JBrowse link
Early Infantile Epileptic Encephalopathy, 80 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccpg1 cell cycle progression 1 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80 ClinVar NCBI chr 8:79,660,634...79,692,044
Ensembl chr 8:79,660,657...79,692,039
JBrowse link
G Pigb phosphatidylinositol glycan anchor biosynthesis, class B ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80 OMIM
ClinVar
PMID:17343268 PMID:25326635 PMID:25741868 PMID:31256876 NCBI chr 8:79,691,407...79,715,284
Ensembl chr 8:79,691,407...79,715,284
JBrowse link
G Pigbos1 PIGB opposite strand 1 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80 ClinVar PMID:17343268 PMID:31256876 NCBI chr 8:79,715,337...79,719,706 JBrowse link
Early Infantile Epileptic Encephalopathy, 81 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmxl2 Dmx-like 2 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 81 ClinVar
OMIM
PMID:30237576 PMID:31688942 NCBI chr 8:58,932,575...59,077,788
Ensembl chr 8:58,932,580...59,077,690
JBrowse link
Early Infantile Epileptic Encephalopathy, 83 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 83 ClinVar
OMIM
PMID:31820119 NCBI chr14:106,208,174...106,249,322
Ensembl chr14:106,208,176...106,248,539
JBrowse link
Early Infantile Epileptic Encephalopathy, 84 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ugdh UDP-glucose 6-dehydrogenase ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 84 OMIM
ClinVar
PMID:25741868 PMID:32001716 PMID:32860008 NCBI chr14:44,479,614...44,502,845
Ensembl chr14:44,479,614...44,502,845
JBrowse link
Early Infantile Epileptic Encephalopathy, 85 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smc1a structural maintenance of chromosomes 1A ISO 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:21,710,976...21,755,708
Ensembl chr  X:21,711,019...21,755,525
JBrowse link
Early Infantile Epileptic Encephalopathy, 86 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dalrd3 DALR anticodon binding domain containing 3 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 86 OMIM
ClinVar
PMID:32427860 NCBI chr 8:117,355,943...117,358,819
Ensembl chr 8:117,355,943...117,358,818
JBrowse link
Early Infantile Epileptic Encephalopathy, 87 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amd1 adenosylmethionine decarboxylase 1 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 87 ClinVar PMID:25741868 PMID:32330417 NCBI chr20:45,384,000...45,399,694
Ensembl chr20:45,384,000...45,399,694
JBrowse link
G Cdk19 cyclin-dependent kinase 19 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 87 OMIM
ClinVar
PMID:25741868 PMID:32330417 NCBI chr20:45,458,499...45,598,799
Ensembl chr20:45,458,558...45,598,798
JBrowse link
Early Infantile Epileptic Encephalopathy, 88 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mdh1 malate dehydrogenase 1 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 88 ClinVar
OMIM
PMID:31538237 NCBI chr14:106,378,349...106,393,642
Ensembl chr14:106,378,942...106,393,670
JBrowse link
early myoclonic encephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jmjd1c jumonji domain containing 1C ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy ClinVar PMID:22495311 PMID:26181491 PMID:28492532 NCBI chr20:22,751,743...22,914,080
Ensembl chr20:22,751,743...22,882,672
JBrowse link
G Kcnd2 potassium voltage-gated channel subfamily D member 2 ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy ClinVar PMID:24501278 PMID:28492532 PMID:29581270 NCBI chr 4:48,309,283...48,816,804 JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
ClinVar Annotator: match by term: Early myoclonic encephalopathy
ClinVar PMID:10521305 PMID:10742094 PMID:11254444 PMID:11254445 PMID:11359211 PMID:11567038 PMID:12086636 PMID:12610651 PMID:12821740 PMID:14702334 PMID:14738421 PMID:16541393 PMID:17054684 PMID:17347258 PMID:17561957 PMID:18021921 PMID:18056581 PMID:18413471 PMID:18414213 PMID:18930999 PMID:19200853 PMID:19236456 PMID:19359143 PMID:19522081 PMID:19589774 PMID:19782004 PMID:20431604 PMID:20522430 PMID:20729507 PMID:20879882 PMID:21396429 PMID:21713554 PMID:21906962 PMID:22150645 PMID:22550089 PMID:22612257 PMID:22780858 PMID:23195492 PMID:23398611 PMID:23884151 PMID:24066114 PMID:24136861 PMID:24168886 PMID:25741868 PMID:26096185 PMID:26467025 PMID:26544041 PMID:26845707 PMID:26990884 PMID:27236449 PMID:27864847 PMID:28192756 PMID:28492532 PMID:29100083 PMID:29358611 PMID:30311386 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
JBrowse link
G Slc25a22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy ClinVar PMID:15592994 PMID:18414213 PMID:19780765 PMID:24596948 PMID:25741868 PMID:26467025 PMID:27843123 PMID:28492532 NCBI chr 1:214,410,388...214,418,236
Ensembl chr 1:214,410,417...214,414,897
JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile ClinVar PMID:24033266 PMID:25741868 PMID:25769375 PMID:26371875 PMID:27281533 PMID:28292732 PMID:28428906 PMID:28492532 NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
JBrowse link
epilepsy with generalized tonic-clonic seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15121994 NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
JBrowse link
G Bdnf brain-derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16835697 NCBI chr 7:123,599,264...123,608,436
Ensembl chr 7:123,599,266...123,608,436
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Hbegf heparin-binding EGF-like growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr18:29,330,302...29,340,185
Ensembl chr18:29,329,764...29,340,403
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 IEP protein:decreased expression:dorsal plus ventral thalamus, cerebral cortex, astrocyte projection RGD PMID:23603404 RGD:8662897 NCBI chr13:90,722,945...90,753,338
Ensembl chr13:90,723,092...90,752,581
JBrowse link
G Lgi1 leucine-rich, glioma inactivated 1 IMP RGD PMID:30813600 RGD:14995940 NCBI chr 1:256,955,944...256,996,835
Ensembl chr 1:256,955,652...256,999,253
JBrowse link
G Lgi1m1Kyo leucine-rich, glioma inactivated 1; ENU induced mutant1, Kyo IMP RGD PMID:30813600 RGD:14995940