Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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:developmental and epileptic encephalopathy 1
go back to main search page
Accession:DOID:0080468 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by X-linked recessive inheritance of frequent tonic seizures or spasms beginning in infancy that has_material_basis_in mutation in the ARX gene on chromosome Xp21. (DO)
Synonyms:exact_synonym: DEE1;   EIEE1;   ISSX1;   X-linked Ohtahara syndrome;   X-linked West syndrome;   X-linked infantile spasm syndrome;   X-linked infantile spasm syndrome, 1;   X-linked infantile spasms;   XMESID;   early infantile epileptic encephalopathy 1;   infantile epileptic-dyskinetic encephalopathy
 primary_id: MESH:C567924
 alt_id: OMIM:308350
 xref: NCI:C179866


show annotations for term's descendants           Sort by:
developmental and epileptic encephalopathy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA3 ATP binding cassette subfamily A member 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746 		JBrowse link
G ALDH7A1 aldehyde dehydrogenase 7 family member A1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:23953072 PMID:25741868 PMID:28492532 NCBI chr 5:126,541,841...126,595,219
Ensembl chr 5:126,531,200...126,595,362 		JBrowse link
G ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:111,681,170...111,760,649
Ensembl chr  X:111,665,811...111,760,649 		JBrowse link
G ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:35638461 NCBI chr  X:63,634,967...63,785,214
Ensembl chr  X:63,634,967...63,809,274 		JBrowse link
G ARX aristaless related homeobox ISO
IAGP
EXP		 ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome
CTD Direct Evidence: marker/mechanism
associated with Mental Retardation, X-Linked;DNA:insertion:cds:c.333_334ins(GCG)7 (human)		 ClinVar
CTD
OMIM
RGD		 PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:9536098 More... RGD:11565838, RGD:11565846 NCBI chr  X:25,003,694...25,015,965
Ensembl chr  X:25,003,694...25,016,420 		JBrowse link
G BRICD5 BRICHOS domain containing 5 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr16:2,209,253...2,210,863
Ensembl chr16:2,209,253...2,210,905 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489 		JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase IAGP ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:25741868 PMID:28492532 PMID:32820246 PMID:33497533 NCBI chr 2:27,217,369...27,243,943
Ensembl chr 2:27,217,369...27,243,943 		JBrowse link
G CASKIN1 CASK interacting protein 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr16:2,177,180...2,196,605
Ensembl chr16:2,177,180...2,196,605 		JBrowse link
G CCNF cyclin F IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 More... NCBI chr16:2,429,447...2,458,854
Ensembl chr16:2,429,394...2,458,854 		JBrowse link
G CDKL5 cyclin dependent kinase like 5 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:18,425,608...18,653,629
Ensembl chr  X:18,425,583...18,653,629 		JBrowse link
G CFAP96 cilia and flagella associated protein 96 IAGP ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome ClinVar PMID:25741868 PMID:28492532 PMID:33473208 NCBI chr 4:185,408,434...185,449,826
Ensembl chr 4:185,426,249...185,449,826 		JBrowse link
G CHD2 chromodomain helicase DNA binding protein 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr15:92,900,324...93,027,996
Ensembl chr15:92,886,203...93,027,996 		JBrowse link
G CSNK1E casein kinase 1 epsilon IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar NCBI chr22:38,290,691...38,318,084
Ensembl chr22:38,290,691...38,318,084 		JBrowse link
G DNASE1L2 deoxyribonuclease 1 like 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr16:2,236,444...2,238,711
Ensembl chr16:2,235,816...2,238,711 		JBrowse link
G DNM1 dynamin 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:30097719 PMID:32909139 PMID:36413998 NCBI chr 9:128,203,379...128,255,244
Ensembl chr 9:128,191,655...128,255,248 		JBrowse link
G E4F1 E4F transcription factor 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr16:2,223,591...2,235,742
Ensembl chr16:2,223,580...2,235,742 		JBrowse link
G ECI1 enoyl-CoA delta isomerase 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr16:2,239,402...2,251,587
Ensembl chr16:2,239,402...2,252,300 		JBrowse link
G GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr15:26,543,552...26,773,763
Ensembl chr15:26,543,552...26,939,539 		JBrowse link
G GNAO1 G protein subunit alpha o1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr16:56,191,489...56,357,444
Ensembl chr16:56,189,660...56,357,444 		JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 IAGP ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,138,346...137,168,756 		JBrowse link
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24747641 NCBI chr 5:45,254,948...45,696,380
Ensembl chr 5:45,254,948...45,696,498 		JBrowse link
G HNRNPU heterogeneous nuclear ribonucleoprotein U IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar NCBI chr 1:244,850,297...244,864,543
Ensembl chr 1:244,840,638...244,864,560 		JBrowse link
G ITPA inosine triphosphatase IAGP ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:26224535 PMID:28492532 NCBI chr20:3,204,065...3,227,449
Ensembl chr20:3,208,868...3,223,870 		JBrowse link
G KCNA2 potassium voltage-gated channel subfamily A member 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:8663992 PMID:8663993 PMID:15694325 PMID:16002579 PMID:21044565 More... NCBI chr 1:110,593,580...110,631,440
Ensembl chr 1:110,519,837...110,631,474 		JBrowse link
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1		 ClinVar PMID:25741868 PMID:28492532 NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,208...63,472,677 		JBrowse link
G LOC109610631 aristaless related homeobox polyalanine expansion region IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome		 ClinVar PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:10353782 More... NCBI chr  X:25,013,530...25,013,697 JBrowse link
G LOC110120570 VISTA enhancer hs12 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:27569545 PMID:28492532 NCBI chr16:78,476,711...78,478,047 JBrowse link
G LOC110120595 VISTA enhancer hs122 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr  X:24,998,950...25,000,639 JBrowse link
G LOC110120597 VISTA enhancer hs145 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr  X:25,000,754...25,002,415 JBrowse link
G LOC112486209 Sharpr-MPRA regulatory region 4302 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:24456803 PMID:25411445 PMID:25640679 PMID:27569545 PMID:28492532 More... NCBI chr16:78,428,252...78,428,546 JBrowse link
G LOC121587562 Sharpr-MPRA regulatory region 1447 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:27569545 PMID:28492532 NCBI chr16:78,200,092...78,200,386 JBrowse link
G LOC125177355 Sharpr-MPRA regulatory region 10407 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:27569545 PMID:28492532 NCBI chr16:78,240,572...78,240,866 JBrowse link
G LOC126863148 CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:38694325-38695524 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar NCBI chr22:38,298,319...38,300,075 JBrowse link
G LOC132090428 Neanderthal introgressed variant-containing enhancer experimental_45974 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:27569545 PMID:28492532 NCBI chr16:78,134,868...78,135,037 JBrowse link
G LOC132090429 Neanderthal introgressed variant-containing enhancer experimental_45980 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:27569545 PMID:28492532 NCBI chr16:78,138,511...78,138,680 JBrowse link
G LOC132090430 Neanderthal introgressed variant-containing enhancer experimental_46047 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:27569545 PMID:28492532 NCBI chr16:78,165,689...78,165,858 JBrowse link
G LOC132090431 Neanderthal introgressed variant-containing enhancer experimental_46108 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:27569545 PMID:28492532 NCBI chr16:78,287,868...78,288,037 JBrowse link
G LOC132090432 Neanderthal introgressed variant-containing enhancer experimental_46172 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25411445 PMID:27569545 PMID:28492532 NCBI chr16:78,322,474...78,322,643 JBrowse link
G LOC132090433 Neanderthal introgressed variant-containing enhancer experimental_46191 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25411445 PMID:27569545 PMID:28492532 NCBI chr16:78,327,206...78,327,375 JBrowse link
G LOC132090434 Neanderthal introgressed variant-containing enhancer experimental_46196 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25411445 PMID:27569545 PMID:28492532 NCBI chr16:78,327,531...78,327,700 JBrowse link
G LOC132090435 Neanderthal introgressed variant-containing enhancer experimental_46257 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:24456803 PMID:25411445 PMID:25640679 PMID:27569545 PMID:28492532 More... NCBI chr16:78,427,395...78,427,564 JBrowse link
G MAF MAF bZIP transcription factor IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1		 ClinVar PMID:9536098 PMID:17576681 PMID:24369382 PMID:24456803 PMID:25411445 More... NCBI chr16:79,202,622...79,600,737
Ensembl chr16:79,585,843...79,600,737 		JBrowse link
G MIR1225 microRNA 1225 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr16:2,090,195...2,090,284
Ensembl chr16:2,090,195...2,090,284 		JBrowse link
G MLST8 MTOR associated protein, LST8 homolog IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr16:2,205,454...2,209,453
Ensembl chr16:2,204,248...2,209,453 		JBrowse link
G NAPB NSF attachment protein beta IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:33189936 NCBI chr20:23,374,522...23,421,488
Ensembl chr20:23,374,519...23,421,519 		JBrowse link
G NRXN2 neurexin 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar NCBI chr11:64,606,174...64,723,197
Ensembl chr11:64,606,174...64,723,197 		JBrowse link
G NTN3 netrin 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr16:2,471,297...2,474,145
Ensembl chr16:2,471,297...2,474,145 		JBrowse link
G PACS2 phosphofurin acidic cluster sorting protein 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:20186691 PMID:23733235 PMID:25034272 PMID:25741868 PMID:26626314 More... NCBI chr14:105,300,774...105,398,147
Ensembl chr14:105,300,563...105,398,147 		JBrowse link
G PCDH19 protocadherin 19 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr  X:100,291,644...100,410,273
Ensembl chr  X:100,291,644...100,410,273 		JBrowse link
G PCYT1B phosphate cytidylyltransferase 1B, choline IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:19439424 PMID:19738637 PMID:24643514 PMID:26337422 PMID:28492532 NCBI chr  X:24,558,087...24,672,887
Ensembl chr  X:24,558,087...24,672,677 		JBrowse link
G PDK3 pyruvate dehydrogenase kinase 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:19439424 PMID:19738637 PMID:24643514 PMID:26337422 PMID:28492532 NCBI chr  X:24,465,286...24,550,466
Ensembl chr  X:24,465,244...24,550,466 		JBrowse link
G PGP phosphoglycolate phosphatase IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr16:2,211,593...2,214,840
Ensembl chr16:2,211,593...2,214,840 		JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898 		JBrowse link
G PLCB1 phospholipase C beta 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr20:8,132,266...8,884,900
Ensembl chr20:8,077,251...8,968,360 		JBrowse link
G POLA1 DNA polymerase alpha 1, catalytic subunit IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:19439424 PMID:19738637 PMID:24643514 PMID:26337422 PMID:28492532 NCBI chr  X:24,693,918...24,996,986
Ensembl chr  X:24,693,873...24,996,986 		JBrowse link
G RAB26 RAB26, member RAS oncogene family IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr16:2,148,144...2,154,165
Ensembl chr16:2,140,803...2,154,165 		JBrowse link
G REPS2 RALBP1 associated Eps domain containing 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr  X:16,946,658...17,196,655
Ensembl chr  X:16,946,658...17,153,272 		JBrowse link
G RNPS1 RNA binding protein with serine rich domain 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr16:2,253,116...2,268,126
Ensembl chr16:2,253,116...2,268,397 		JBrowse link
G RS1 retinoschisin 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr  X:18,639,688...18,672,108
Ensembl chr  X:18,639,688...18,672,108 		JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome		 ClinVar PMID:11940708 PMID:12083760 PMID:16458823 PMID:17347258 PMID:18804930 More... NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,182,806 		JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr12:51,591,233...51,812,864
Ensembl chr12:51,590,266...51,812,864 		JBrowse link
G SLC25A12 solute carrier family 25 member 12 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr 2:171,783,405...171,894,244
Ensembl chr 2:171,783,405...171,999,859 		JBrowse link
G ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr 1:43,707,536...43,931,159
Ensembl chr 1:43,705,824...43,931,165 		JBrowse link
G SYNJ1 synaptojanin 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1		 ClinVar PMID:25741868 PMID:28492532 NCBI chr21:32,628,759...32,728,394
Ensembl chr21:32,628,759...32,728,040 		JBrowse link
G SZT2 SZT2 subunit of KICSTOR complex IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:43,389,899...43,454,247
Ensembl chr 1:43,389,882...43,454,247 		JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome
ClinVar Annotator: match by term: X-linked infantile spasms		 ClinVar PMID:3402014 PMID:9536098 PMID:10574461 PMID:10741954 PMID:16199547 More... NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,560 		JBrowse link
G TEDC2 tubulin epsilon and delta complex 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr16:2,460,109...2,464,963
Ensembl chr16:2,460,086...2,464,963 		JBrowse link
G TPTEP2-CSNK1E TPTEP2-CSNK1E readthrough IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar NCBI chr22:38,290,691...38,398,915
Ensembl chr22:38,291,918...38,398,522 		JBrowse link
G TRAF7 TNF receptor associated factor 7 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,698...2,178,129 		JBrowse link
G TSC2 TSC complex subunit 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491 		JBrowse link
G UFSP2 UFM1 specific peptidase 2 IAGP ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome ClinVar PMID:25741868 PMID:28492532 PMID:33473208 NCBI chr 4:185,399,537...185,425,964
Ensembl chr 4:185,399,537...185,425,979 		JBrowse link
G WWOX WW domain containing oxidoreductase IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-linked infantile spasms
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome		 ClinVar PMID:9536098 PMID:11572989 PMID:11956080 PMID:16199547 PMID:17576681 More... NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667 		JBrowse link
G WWOX-AS1 WWOX antisense RNA 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:27569545 PMID:28492532 NCBI chr16:78,234,662...78,241,751
Ensembl chr16:78,234,652...78,241,989 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35754
    syndrome 18145
      electroclinical syndrome 1766
        developmental and epileptic encephalopathy 1321
          developmental and epileptic encephalopathy 1 74
Path 2
Term Annotations click to browse term
  disease 35754
    disease of anatomical entity 32493
      nervous system disease 26373
        central nervous system disease 23608
          brain disease 22047
            epilepsy 3694
              electroclinical syndrome 1766
                neonatal period electroclinical syndrome 1282
                  early infantile epileptic encephalopathy 1257
                    developmental and epileptic encephalopathy 1 74
paths to the root