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

RGD DISEASE ONTOLOGY - ANNOTATIONS

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

Term:electroclinical syndrome
go back to main search page
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 Chd2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Absence seizures ClinVar PMID:30311386 NCBI chr 1:134,757,934...134,873,053
Ensembl chr 1:134,757,934...134,871,167
JBrowse link
G Reln reelin ISO ClinVar Annotator: match by term: Absence seizures ClinVar PMID:28492532, PMID:30311386 NCBI chr 4:9,347,533...9,774,257
Ensembl chr 4:9,347,528...9,773,670
JBrowse link
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, PMID:30311386 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: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:25904555, PMID:26467025, PMID:26601054, PMID:27288002, PMID:28102150, PMID:28492532, PMID:29358611, PMID:30311386 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, PMID:30311386 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, PMID:30311386 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, PMID:30311386 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:28492532, PMID:29358611, PMID:30311386 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: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:30311386 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 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:11738931, PMID:18414213, PMID:19702560, PMID:20956790, PMID:22029951, PMID:22581653, PMID:22591750, PMID:23550958, PMID:23849776, PMID:24579881, PMID:25741868, PMID:25818041, PMID:26467025, PMID:26645390, PMID:27159988, PMID:27328862, PMID:28065826, PMID:28087622, PMID:28379373, PMID:28492532, PMID:16417554 RGD:13207596 NCBI chr 3:51,687,910...51,822,008
Ensembl chr 3:51,687,809...51,822,250
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:30311386, PMID:30578330 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:9425900, PMID:10852552, PMID:14534157, PMID:16235065, PMID:17765802, PMID:18249525, PMID:18625963, PMID:19298256, PMID:19344764, PMID:21703448, PMID:23020937, PMID:23146207, PMID:23360469, PMID:23596459, PMID:23934111, PMID:24375629, PMID:25052858, PMID:25278462, PMID:25740509, PMID:25741868, PMID:25982755, PMID:26350204, PMID:26350515, PMID:26467025, PMID:28135719, PMID:28492532, PMID:28628100, PMID:29358611, PMID:29383681, PMID:29655203, PMID:30311386, PMID:30578330 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:1325650, PMID:1658739, PMID:1658783, PMID:3508699, PMID:6660252, PMID:10198179, PMID:11245985, PMID:11326335, PMID:11371648, PMID:11738931, PMID:12243921, PMID:12610651, PMID:15048894, PMID:15101391, PMID:15249644, PMID:15301839, PMID:15316014, PMID:16884893, PMID:17021166, PMID:17386050, PMID:17467289, PMID:18414213, PMID:18479388, PMID:18809926, PMID:19702560, PMID:19786696, PMID:20006674, PMID:20196795, PMID:20346423, PMID:20351042, PMID:20371507, PMID:20956790, PMID:21416599, PMID:21692795, PMID:21893419, PMID:22029951, PMID:22495306, PMID:22581653, PMID:22581936, PMID:22591750, PMID:23016767, PMID:23020937, PMID:23033978, PMID:23184456, PMID:23360469, PMID:23550958, PMID:23708187, PMID:23758435, PMID:23827426, PMID:23849776, PMID:23934111, PMID:23935176, PMID:24267886, PMID:24579881, PMID:24650168, PMID:24848745, PMID:25163687, PMID:25326635, PMID:25326637, PMID:25348405, PMID:25741868, PMID:25772804, PMID:25818041, PMID:25937001, PMID:26068938, PMID:26291284, 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:27867041, PMID:28065826, PMID:28087622, PMID:28256214, 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 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: Benign familial neonatal-infantile seizures 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 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:6965523, PMID:7980108, PMID:8327138, PMID:9425895, PMID:9430594, PMID:9872318, PMID:10323247, PMID:10482260, PMID:10774989, PMID:10781098, PMID:11175290, PMID:11572947, PMID:11690625, PMID:11784811, PMID:12742592, PMID:12754513, PMID:12847176, PMID:14534157, PMID:14669214, PMID:14985406, PMID:15030501, PMID:15178210, PMID:15249611, PMID:15596769, PMID:15608631, PMID:16039833, PMID:16260777, PMID:16319223, PMID:16686649, PMID:16691402, PMID:16829045, PMID:16916607, PMID:16966552, PMID:17129708, PMID:17475800, PMID:17675531, PMID:17872363, PMID:17993630, PMID:18006581, PMID:18238816, PMID:18246739, PMID:18353052, PMID:18414213, PMID:18483067, PMID:19344764, PMID:19380078, PMID:19453707, PMID:19559753, PMID:19818940, PMID:20119593, PMID:20196795, 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:23849776, 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:26795593, PMID:26993267, PMID:27334371, PMID:27535030, PMID:27602407, PMID:27779742, PMID:27861786, PMID:27864847, PMID:28133863, PMID:28139826, PMID:28399683, PMID:28492532, PMID:28602030, PMID:28687180, PMID:28973083, PMID:29056246, PMID:29129156, PMID:29186148, PMID:29190809, PMID:29215089, PMID:29390993, PMID:29429461, PMID:29655203, PMID:29933521, PMID:30126342, PMID:30185235, PMID:30311386, PMID:31199083 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:18625963, PMID:19298256, PMID:19344764, PMID:21703448, PMID:23020937, PMID:23146207, PMID:23360469, PMID:23596459, PMID:23934111, PMID:24375629, PMID:25740509, PMID:25741868, PMID:25982755, PMID:26350204, PMID:26350515, PMID:26467025, PMID:28135719, PMID:28492532, PMID:28628100, PMID:29358611, PMID:29655203, PMID:30311386, PMID:30578330, 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 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:22275249, PMID:22926866, PMID:23621294, PMID:23692823, PMID:25741868, PMID:25959266, 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:18414213, PMID:19702560, PMID:20956790, PMID:22029951, PMID:22581653, PMID:22591750, PMID:23550958, PMID:23849776, PMID:24579881, PMID:25741868, PMID:25818041, PMID:26467025, PMID:26645390, PMID:27159988, PMID:27328862, PMID:28065826, PMID:28087622, PMID:28379373, PMID:28492532 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:9126483, PMID:11992121, PMID:16530959, PMID:16569738, PMID:16718694, PMID:20551311, PMID:21714819, PMID:22190369, PMID:23934111, PMID:24623842, PMID:24811917, 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:24999380, PMID:25533962, PMID:25726841, PMID:25741868, PMID:26068938, PMID:26467025, PMID:26645412, PMID:26704558, PMID:26845707, PMID:26950270, PMID:26993267, 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
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:9126059, 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:15508915, PMID:15508916, PMID:15880351, PMID:16430863, 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:19400878, 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:21269283, PMID:21371021, PMID:21396429, PMID:21425109, PMID:21463290, 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:22719002, 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:24097157, PMID:24136861, PMID:24168886, PMID:24328833, PMID:24679980, PMID:24776920, PMID:24836964, PMID:25243660, PMID:25326635, PMID:25348405, PMID:25378155, PMID:25401298, 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: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 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, PMID:30311386 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 Cdkl5 cyclin-dependent kinase-like 5 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:35,536,396...35,773,204
Ensembl chr  X:35,599,258...35,771,711
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:9050846, PMID:21220323, PMID:23993195, PMID:25590979, 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:28503590, 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 PMID:25741868 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:6965523, PMID:8327138, PMID:9425895, PMID:9430594, PMID:9872318, PMID:10323247, PMID:10482260, PMID:10781098, PMID:11175290, PMID:11572947, PMID:11690625, PMID:11784811, PMID:12742592, PMID:12754513, PMID:14534157, PMID:14985406, PMID:15249611, PMID:15596469, PMID:15608631, PMID:16039833, PMID:16597729, PMID:16829045, PMID:16916607, PMID:17475800, PMID:17675531, PMID:17872363, PMID:18238816, PMID:18353052, PMID:18414213, PMID:18483067, PMID:19344764, PMID:19380078, PMID:19453707, PMID:19559753, PMID:19822871, PMID:20119593, PMID:20196795, PMID:21685056, PMID:21937445, PMID:22169383, PMID:22275249, PMID:22455920, PMID:22926866, PMID:23360469, PMID:23440208, PMID:23621294, PMID:23692823, PMID:23708187, PMID:23849776, PMID:23934111, PMID:24107868, PMID:24318194, PMID:24371303, PMID:24375629, PMID:24463883, PMID:24586341, PMID:24759409, PMID:24811917, 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:26795593, PMID:26993267, PMID:27334371, PMID:27535030, PMID:27602407, PMID:27779742, PMID:27781031, PMID:27861786, PMID:27864847, PMID:28133863, PMID:28139826, PMID:28283543, PMID:28399683, PMID:28420012, PMID:28492532, PMID:28602030, PMID:28687180, PMID:28867141, PMID:28926830, PMID:28973083, PMID:29056246, PMID:29129156, PMID:29186148, PMID:29190809, PMID:29215089, PMID:29314763, PMID:29390993, PMID:29429461, PMID:29644095, PMID:29655203, PMID:29720203, PMID:29933521, PMID:30109124, PMID:30126342, PMID:30174244, PMID:30185235, PMID:30311386, PMID:30478917, PMID:31199083, PMID:32581362 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:1139695, PMID:2042915, PMID:28334793 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:15508915, PMID:15508916, PMID:15694566, PMID:15880351, PMID:16075041, PMID:16210358, PMID:16430863, 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:21269283, PMID:21371021, PMID:21396429, PMID:21416599, PMID:21425109, PMID:21463290, 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:22719002, 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:24836964, 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:30311386, 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:7751906, PMID:9295353, PMID:9828131, PMID:10745221, PMID:12374766, PMID:16236810, PMID:17881658, PMID:18414213, PMID:20196795, PMID:22365152, PMID:23020937, PMID:23708187, PMID:23934111, PMID:24352161, PMID:24874546, PMID:24888894, PMID:25046240, PMID:25227913, PMID:25239001, PMID:25326635, PMID:25326637, PMID:25568300, PMID:25725044, PMID:25741868, PMID:25785782, PMID:25799905, PMID:25849321, PMID:25914188, PMID:25951352, PMID:26029160, PMID:26220391, PMID:26235739, PMID:26252990, PMID:26297079, PMID:26467025, PMID:26647175, PMID:26677014, PMID:26900580, PMID:26993267, PMID:27210545, PMID:27270488, PMID:27779742, PMID:27781031, PMID:27864847, PMID:27875746, PMID:27900360, PMID:28387369, PMID:28492532, PMID:28676574, PMID:28702509, PMID:28923014, PMID:29100083, PMID:29121005, PMID:29186148, PMID:29432985, PMID:29588952, PMID:29655203, PMID:29720203, PMID:30109124, PMID:30171078, PMID:30311386, 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:9545644, PMID:16806828, PMID:16829045, PMID:17301226, PMID:18414213, PMID:18469812, PMID:19557857, PMID:20196795, PMID:20876469, PMID:20887364, PMID:21062273, PMID:21204804, PMID:21364700, PMID:21762454, PMID:21770924, PMID:22211739, PMID:22495311, PMID:22722545, PMID:23020937, PMID:23409955, PMID:23662938, PMID:23708187, PMID:23757202, PMID:23934111, PMID:24033266, PMID:24189369, PMID:24315539, PMID:24623842, PMID:24781210, PMID:24836964, PMID:25008876, PMID:25131622, PMID:25356970, PMID:25418441, PMID:25497044, PMID:25556537, PMID:25621899, PMID:25693842, PMID:25714420, PMID:25741868, PMID:25914188, PMID:26384463, PMID:26467025, PMID:26514728, PMID:26537360, 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: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:1605226, 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:12379852, 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:19439424, 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:22252899, PMID:22922607, PMID:23039062, PMID:23246292, PMID:24643514, PMID:24781210, PMID:25044608, PMID:25741868, PMID:26029707, PMID:26337422, PMID:26467025, PMID:27781032, PMID:28150386, 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:1377421, PMID:1706481, PMID:8046438, PMID:8158277, PMID:8663992, PMID:8663993, PMID:9525859, PMID:11331357, PMID:12127166, PMID:12214225, PMID:14765197, PMID:15694325, PMID:16002579, PMID:16002581, PMID:16075038, PMID:16704338, PMID:17634333, PMID:20696761, PMID:21044565, PMID:25477152, PMID:25741868, PMID:25751627, PMID:26648591, PMID:27062609, PMID:27117551, PMID:27543892, PMID:27733563, PMID:28019717, PMID:28032718, 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 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: X-Linked Infantile Spasm Syndrome
ClinVar PMID:10574461, PMID:18414213, PMID:20727515, PMID:22277662, PMID:23184456, PMID:23526554, PMID:23806086, PMID:24033266, PMID:24088043, PMID:24291220, PMID:24387994, PMID:24469796, 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 OMIM:613721
OMIM
ClinVar
PMID:1325650, PMID:1658739, PMID:1658783, PMID:10198179, PMID:11245985, PMID:11326335, PMID:11738931, PMID:15028761, PMID:15048894, PMID:15101391, PMID:15249644, PMID:17021166, PMID:17386050, PMID:17467289, PMID:18414213, PMID:18479388, PMID:18809926, PMID:19702560, PMID:19786696, PMID:20006674, PMID:20196795, PMID:20346423, PMID:20351042, PMID:20956790, PMID:22029951, PMID:22495306, PMID:22581653, PMID:22581936, PMID:22591750, PMID:23020937, PMID:23033978, PMID:23360469, PMID:23550958, PMID:23708187, PMID:23827426, PMID:23849776, PMID:23934111, PMID:23935176, PMID:24267886, PMID:24579881, PMID:25163687, 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:28256214, PMID:28379373, PMID:28492532, PMID:28554332, PMID:28628100, PMID:28708303, PMID:29186148, PMID:29215089, PMID:29844171, PMID:30165711 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:7165045, PMID:10446192, PMID:11112660, PMID:18414213, PMID:20118933, PMID:22508754, PMID:23224214, PMID:23708187, PMID:24033266, PMID:24965255, PMID:25558065, PMID:25728773, PMID:25741868, PMID:26467025, PMID:26993267, PMID:27066567, PMID:27066586, PMID:27165045, PMID:27232581, PMID:28492532, PMID:29056246, PMID:29261713, PMID:29498415, PMID:29655203, PMID:29720203, PMID:29924869, PMID:30039206, PMID:30311386, 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: Early infantile epileptic encephalopathy 13
ClinVar Annotator: match by OMIM:614558
OMIM
ClinVar
PMID:7751906, PMID:9295353, PMID:9828131, PMID:10745221, PMID:12374766, PMID:16236810, PMID:17881658, PMID:18414213, PMID:20196795, 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:26252990, PMID:26297079, PMID:26467025, PMID:26647175, PMID:26677014, PMID:26680202, PMID:26900580, PMID:26993267, PMID:27210545, PMID:27270488, PMID:27779742, PMID:27864847, PMID:27875746, PMID:28387369, PMID:28492532, PMID:28676574, PMID:28702509, PMID:28708303, PMID:28923014, PMID:29100083, PMID:29186148, PMID:29588952, PMID:29720203, PMID:30171078, PMID:30311386, 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:7895015, PMID:18414213, PMID:18479385, PMID:23086396, PMID:23086397, PMID:23599387, PMID:24029078, PMID:24120652, 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:29100083, PMID:29186148, PMID:29196579, PMID:29314583, PMID:29358611, PMID:29390993, PMID:29422393, PMID:30182418, PMID:30311386, 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: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:9126483, PMID:11992121, PMID:16718694, PMID:18414213, PMID:20551311, PMID:21714819, PMID:22190369, PMID:23934111, PMID:24623842, PMID:24811917, PMID:25741868, PMID:26918889, PMID:27353043, PMID:27521439, PMID:28492532, 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:30311386, PMID:30776697, 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, PMID:30311386 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: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: Epileptic encephalopathy, early infantile, 27 OMIM
ClinVar
PMID:17357078, PMID:18414213, PMID:20890276, PMID:21572417, PMID:22796429, PMID:22833210, PMID:23033978, PMID:23160955, PMID:23408766, PMID:23718928, PMID:23933819, PMID:23933820, PMID:23934111, PMID:24126926, PMID:24267886, PMID:24272827, PMID:24759409, PMID:24999380, PMID:25326635, PMID:25356899, PMID:25741868, PMID:26350515, PMID:26467025, PMID:27605359, PMID:27818011, PMID:28377535, PMID:28492532, PMID:28554332, PMID:28708303 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 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:29852413 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 OMIM 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:1674590, PMID:1828536, PMID:1832879, PMID:6304244, PMID:7877693, PMID:7877694, PMID:7962076, PMID:8290576, PMID:8360266, PMID:9294229, PMID:10074457, PMID:11553700, PMID:11879655, PMID:12509422, PMID:14985377, PMID:15509649, PMID:15731758, PMID:17460227, PMID:17463283, PMID:18250322, PMID:19084268, PMID:19502294, PMID:19633650, PMID:19665976, PMID:20428113, PMID:20700442, PMID:21102612, PMID:21441247, PMID:21926968, PMID:21927001, PMID:22099461, PMID:22233676, PMID:23092955, PMID:23781021, PMID:25262651, PMID:25533962, PMID:25741868, PMID:26467025, PMID:26611353, PMID:26648591, 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:1674590, PMID:1828536, PMID:1832879, PMID:6304244, PMID:7877693, PMID:7877694, PMID:7962076, PMID:8290576, PMID:8360266, PMID:9294229, PMID:10074457, PMID:11553700, PMID:11879655, PMID:12509422, PMID:14985377, PMID:15509649, PMID:15731758, PMID:17460227, PMID:17463283, PMID:18250322, PMID:19084268, PMID:19502294, PMID:19633650, PMID:19665976, PMID:20428113, PMID:20700442, PMID:21102612, PMID:21441247, PMID:21926968, PMID:21927001, PMID:22099461, PMID:22233676, PMID:23092955, PMID:23781021, PMID:25262651, PMID:25533962, PMID:25741868, PMID:25741869, PMID:26467025, PMID:26611353, PMID:26648591, PMID:27066543, 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:1377421, PMID:1706481, PMID:8046438, PMID:8158277, PMID:8663992, PMID:8663993, PMID:9525859, PMID:11331357, PMID:12127166, PMID:12214225, PMID:14765197, PMID:15694325, PMID:16002579, PMID:16002581, PMID:16075038, PMID:16704338, PMID:17634333, PMID:18414213, PMID:20696761, PMID:21044565, PMID:25477152, PMID:25741868, PMID:25751627, PMID:25950944, PMID:26467025, PMID:26599217, PMID:26648591, PMID:27062609, PMID:27117551, PMID:27457812, PMID:27543892, PMID:27733563, PMID:28019717, 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:19636410, PMID:19909265, PMID:23033978, PMID:23647072, PMID:24697219, PMID:25326635, PMID:25741868, PMID:26467025, PMID:26682508, PMID:26740508, PMID:26795593, PMID:27441201, PMID:28135719, PMID:28378778, PMID:28492532, PMID:28911200, PMID:30311386 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: 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 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 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:11063737, PMID:12145310, PMID:18287539, PMID:19883648, PMID:20663892, PMID:21539707, PMID:22265715, PMID:25558065, PMID:25741868, PMID:26460143, PMID:26479315, 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: 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:9545644, PMID:16806828, PMID:16829045, PMID:17301226, PMID:18414213, PMID:18469812, PMID:19557857, PMID:20196795, PMID:20876469, PMID:20887364, PMID:21062273, PMID:21204804, PMID:21364700, PMID:21762454, PMID:21770924, PMID:22495311, PMID:22612257, PMID:22722545, PMID:23020937, PMID:23409955, PMID:23662938, PMID:23708187, PMID:23757202, PMID:23858467, PMID:23934111, PMID:24189369, PMID:24315539, PMID:24623842, PMID:24781210, PMID:24836964, PMID:25008876, PMID:25284778, PMID:25326635, PMID:25356970, PMID:25418441, PMID:25497044, PMID:25621899, PMID:25693842, PMID:25714420, PMID:25741868, PMID:25758715, PMID:25818041, PMID:25914188, PMID:26384463, PMID:26467025, PMID:26514728, PMID:26537360, PMID:26544041, PMID:26740508, PMID:26795593, PMID:26865513, PMID:26993267, PMID:27069701, PMID:27184330, PMID:27779742, PMID:28133863, PMID:28492532, 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 GUF1 homolog, GTPase 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
OMIM
PMID:1564484, PMID:3358708, PMID:8898206, PMID:8988170, PMID:9005860, PMID:9302278, PMID:9329229, PMID:9403487, PMID:9436730, PMID:9559993, PMID:9879686, PMID:10408532, PMID:11179022, PMID:11564488, PMID:11723274, PMID:12707077, PMID:14718690, PMID:15300451, PMID:15483044, PMID:15710862, PMID:16043807, PMID:16325861, PMID:16595610, PMID:16787562, PMID:17142831, PMID:17292920, PMID:17495624, PMID:17575281, PMID:17588611, PMID:18354422, PMID:18498393, PMID:18541804, PMID:18644040, PMID:18940563, PMID:19484318, PMID:19811514, PMID:20080591, PMID:20097664, PMID:20129625, PMID:20156848, PMID:20204399, PMID:20233618, PMID:20301674, PMID:20682717, PMID:21183743, PMID:21703448, PMID:21734179, PMID:22249839, PMID:22784462, PMID:23183922, PMID:23397224, PMID:23441182, PMID:23771276, PMID:23831250, PMID:23869231, PMID:23934111, PMID:24033266, PMID:24108129, PMID:24486772, PMID:24996492, PMID:25326635, PMID:25356970, PMID:25481746, PMID:25735478, 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:30311386, PMID:32238909, 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 Annotator: match by term: Epileptic encephalopathy, early infantile, 43
ClinVar
OMIM
PMID:25741868, PMID:27476654, 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 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 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 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 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: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
OMIM
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 ClinVar
OMIM
PMID:25741868, PMID:28492532, PMID:30311386, 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 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:1139695, PMID:2042915, PMID:28334793 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
OMIM
PMID:29069600 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:28856709, PMID:29100083 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:11122339, PMID:12620097, PMID:18242854, PMID:20384724, PMID:20420834, PMID:20807223, PMID:21893419, PMID:24157691, PMID:24990319, PMID:25741868, PMID:27153334, PMID:27848944, PMID:28235671, PMID:28492532, PMID:29466837, PMID:29740860, PMID:30311386 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
OMIM
PMID:25741868, PMID:25741869, 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: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66 ClinVar
OMIM
PMID:25741868, 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: 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:6965523, PMID:8327138, PMID:9425895, PMID:9430594, PMID:10323247, PMID:10781098, PMID:11572947, PMID:12742592, PMID:12754513, PMID:12847176, PMID:14985406, PMID:15030501, PMID:15249611, PMID:15608631, PMID:16039833, PMID:16260777, PMID:16829045, PMID:16966552, PMID:17475800, PMID:17675531, PMID:17872363, PMID:18238816, PMID:18353052, PMID:18414213, PMID:19453707, PMID:20196795, PMID:22169383, PMID:22275249, PMID:22455920, PMID:22926866, PMID:23291709, PMID:23360469, PMID:23440208, PMID:23621294, PMID:23692823, PMID:23708187, PMID:23849776, 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:26704558, PMID:26795593, PMID:26993267, PMID:27334371, PMID:27479843, PMID:27535030, PMID:27602407, PMID:27779742, PMID:27861786, PMID:27864847, PMID:28133863, PMID:28139826, PMID:28283543, PMID:28492532, PMID:28503627, PMID:28602030, PMID:28687180, PMID:28867141, PMID:28973083, PMID:29129156, PMID:29190809, PMID:29314763, PMID:29390993, PMID:29644095, PMID:29655203, PMID:30109124, PMID:30174244, PMID:30185235, PMID:31105003, PMID:31199083, PMID:32581362, PMID:32585800 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:21626670, PMID:21633362, PMID:21731583, PMID:23033978, PMID:25678704, PMID:25741868, PMID:26467025, PMID:26834553, PMID:28492532, PMID:28589176, PMID:28620718, PMID:28708303 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:30311386, 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
OMIM
PMID:12370419, PMID:12426103, PMID:15107402, PMID:25741868, PMID:26740508, PMID:27314390, PMID:28135719, 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
OMIM
PMID:2358025, PMID:2847315, PMID:8071363, PMID:8898206, PMID:8988170, PMID:9278062, PMID:10081934, PMID:10208591, PMID:10424882, PMID:10801976, PMID:11031246, PMID:11387546, PMID:11597777, PMID:11854466, PMID:11959138, PMID:12121306, PMID:12506128, PMID:12706458, PMID:12895422, PMID:14519849, PMID:14976402, PMID:14978724, PMID:15483044, PMID:15490203, PMID:15630454, PMID:15777780, PMID:15816941, PMID:16096350, PMID:16595072, PMID:16686648, PMID:19344873, PMID:21482359, PMID:22453990, PMID:22495309, PMID:22495311, PMID:25348405, PMID:25741868, PMID:26795593, PMID:27476654, PMID:28135719, 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: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 OMIM
ClinVar
PMID:15779907, PMID:22237560, PMID:24639874, PMID:25385316, PMID:25629079, PMID:25741868, PMID:27290639, PMID:28077841, PMID:29410512, PMID:29915213, PMID:30237576 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: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 77 OMIM
ClinVar
PMID:9463366, PMID:9729469, PMID:10373468, PMID:11418246, PMID:22265715, PMID:24463883, PMID:24852103, PMID:25558065, PMID:25851949, PMID:27513193, PMID:28492532, PMID:30311386, 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 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:9126059, PMID:10521305, PMID:10742094, PMID:11254444, PMID:11254445, PMID:11359211, PMID:11567038, PMID:12086636, PMID:12610651, PMID:12821740, PMID:14702334, PMID:14738421, PMID:15508915, PMID:15880351, PMID:16430863, 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:19400878, PMID:19522081, PMID:19589774, PMID:19782004, PMID:20431604, PMID:20522430, PMID:20729507, PMID:20879882, PMID:21248271, PMID:21269283, PMID:21396429, PMID:21463290, PMID:21713554, PMID:21906962, PMID:22150645, PMID:22409937, PMID:22550089, PMID:22612257, PMID:22719002, PMID:22780858, PMID:23195492, PMID:23398611, PMID:23884151, PMID:24066114, PMID:24097157, PMID:24136861, PMID:24168886, PMID:24836964, 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