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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:developmental and epileptic encephalopathy 1
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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

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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 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chrNW_004936694:1,735,206...1,778,100
Ensembl chrNW_004936694:1,736,207...1,778,116 		JBrowse link
G Aldh7a1 aldehyde dehydrogenase 7 family member A1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:23953072 PMID:25741868 PMID:28492532 NCBI chrNW_004936575:6,467,224...6,506,052
Ensembl chrNW_004936575:6,467,340...6,506,006 		JBrowse link
G Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936499:3,558,273...3,629,570
Ensembl chrNW_004936499:3,558,236...3,629,592 		JBrowse link
G Arhgef9 Cdc42 guanine nucleotide exchange factor 9 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:35638461 NCBI chrNW_004936635:3,817,034...3,956,928
Ensembl chrNW_004936635:3,816,606...3,960,190 		JBrowse link
G Arx aristaless related homeobox ISO 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 OMIM
ClinVar		 PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:9536098 More... NCBI chrNW_004936836:295,090...306,756
Ensembl chrNW_004936836:295,664...306,756 		JBrowse link
G Bricd5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chrNW_004936694:1,836,566...1,838,950
Ensembl chrNW_004936694:1,837,357...1,838,819 		JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:25741868 PMID:28492532 PMID:32820246 PMID:33497533 NCBI chrNW_004936493:5,308,268...5,332,934
Ensembl chrNW_004936493:5,310,228...5,332,918 		JBrowse link
G Caskin1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chrNW_004936694:1,856,529...1,868,107
Ensembl chrNW_004936694:1,856,603...1,866,617 		JBrowse link
G Ccnf cyclin F ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 More... NCBI chrNW_004936694:1,596,897...1,620,588
Ensembl chrNW_004936694:1,596,766...1,620,643 		JBrowse link
G Cdkl5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936844:101,815...271,254
Ensembl chrNW_004936844:160,833...271,901 		JBrowse link
G Cfap96 cilia and flagella associated protein 96 ISO ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome ClinVar PMID:25741868 PMID:25741905 PMID:28492532 PMID:33473208 NCBI chrNW_004936554:3,908,570...3,925,957
Ensembl chrNW_004936554:3,908,413...3,925,942 		JBrowse link
G Chd2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chrNW_004936483:9,803,887...9,931,132
Ensembl chrNW_004936483:9,803,623...9,931,272 		JBrowse link
G Dnase1l2 deoxyribonuclease 1 like 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chrNW_004936694:1,808,184...1,810,735
Ensembl chrNW_004936694:1,808,463...1,810,019 		JBrowse link
G Dnm1 dynamin 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:30097719 PMID:32909139 PMID:36413998 NCBI chrNW_004936487:15,767,897...15,797,722
Ensembl chrNW_004936487:15,767,897...15,801,211 		JBrowse link
G E4f1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chrNW_004936694:1,811,131...1,829,193
Ensembl chrNW_004936694:1,809,882...1,829,157 		JBrowse link
G Eci1 enoyl-CoA delta isomerase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chrNW_004936694:1,794,673...1,807,306
Ensembl chrNW_004936694:1,794,670...1,807,299 		JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chrNW_004936471:39,791,633...40,193,049
Ensembl chrNW_004936471:39,791,613...40,187,923 		JBrowse link
G Gnao1 G protein subunit alpha o1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chrNW_004936475:8,610,123...8,681,606
Ensembl chrNW_004936475:8,565,889...8,690,673 		JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936669:814,330...838,881
Ensembl chrNW_004936669:814,330...839,208 		JBrowse link
G Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24747641 NCBI chrNW_004936480:17,051,902...17,416,335
Ensembl chrNW_004936480:17,051,898...17,413,657 		JBrowse link
G Hnrnpu heterogeneous nuclear ribonucleoprotein U ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar NCBI chrNW_004936526:6,014,745...6,022,213 JBrowse link
G Itpa inosine triphosphatase ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:26224535 PMID:28492532 NCBI chrNW_004936485:15,499,688...15,511,992
Ensembl chrNW_004936485:15,497,822...15,511,992 		JBrowse link
G Kcna2 potassium voltage-gated channel subfamily A member 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:8663992 PMID:8663993 PMID:15694325 PMID:16002579 PMID:21044565 More... NCBI chrNW_004936704:2,007,577...2,019,520
Ensembl chrNW_004936704:2,007,577...2,017,764 		JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO 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 chrNW_004936514:10,735,247...10,787,682
Ensembl chrNW_004936514:10,735,809...10,787,678 		JBrowse link
G LOC101960999 voltage-dependent P/Q-type calcium channel subunit alpha-1A ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936659:2,201,606...2,269,625
Ensembl chrNW_004936659:2,192,610...2,392,638 		JBrowse link
G LOC101967743 casein kinase I ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar NCBI chrNW_004936492:2,904,622...2,925,904
Ensembl chrNW_004936492:2,907,015...2,928,418 		JBrowse link
G Mlst8 MTOR associated protein, LST8 homolog ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chrNW_004936694:1,839,135...1,849,307
Ensembl chrNW_004936694:1,834,701...1,842,719 		JBrowse link
G Napb NSF attachment protein beta ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:33189936 NCBI chrNW_004936620:2,158,246...2,205,624
Ensembl chrNW_004936620:2,157,528...2,205,586 		JBrowse link
G Nrxn2 neurexin 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar NCBI chrNW_004936599:4,592,411...4,692,866
Ensembl chrNW_004936599:4,592,405...4,690,516 		JBrowse link
G Ntn3 netrin 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chrNW_004936694:1,581,322...1,585,893
Ensembl chrNW_004936694:1,582,643...1,585,455 		JBrowse link
G Pacs2 phosphofurin acidic cluster sorting protein 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:20186691 PMID:23733235 PMID:25034272 PMID:25741868 PMID:25741916 More... NCBI chrNW_004936621:172,727...206,803
Ensembl chrNW_004936621:175,387...206,662 		JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chrNW_004936584:5,568,740...5,668,095
Ensembl chrNW_004936584:5,568,728...5,668,116 		JBrowse link
G Pcyt1b phosphate cytidylyltransferase 1B, choline ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:19439424 PMID:19738637 PMID:24643514 PMID:26337422 PMID:28492532 NCBI chrNW_004936624:31,678...125,318
Ensembl chrNW_004936624:58,792...125,338 		JBrowse link
G Pdk3 pyruvate dehydrogenase kinase 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:19439424 PMID:19738637 PMID:24643514 PMID:26337422 PMID:28492532 NCBI chrNW_004936624:141,745...213,495
Ensembl chrNW_004936624:142,402...213,528 		JBrowse link
G Pgp phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chrNW_004936694:1,834,016...1,836,359 JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chrNW_004936694:1,923,383...1,958,160
Ensembl chrNW_004936694:1,930,621...1,957,179 		JBrowse link
G Plcb1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chrNW_004936485:10,548,966...11,254,139
Ensembl chrNW_004936485:10,548,966...11,253,761 		JBrowse link
G Pola1 DNA polymerase alpha 1, catalytic subunit ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:19439424 PMID:19738637 PMID:24643514 PMID:26337422 PMID:28492532 NCBI chrNW_004936836:1,151...287,438 JBrowse link
G Rab26 RAB26, member RAS oncogene family ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chrNW_004936694:1,896,360...1,902,272
Ensembl chrNW_004936694:1,893,076...1,902,605 		JBrowse link
G Reps2 RALBP1 associated Eps domain containing 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chrNW_004936470:6,218,035...6,428,776
Ensembl chrNW_004936470:6,218,047...6,423,408 		JBrowse link
G Rnps1 RNA binding protein with serine rich domain 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chrNW_004936694:1,784,396...1,794,269
Ensembl chrNW_004936694:1,784,480...1,793,481 		JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chrNW_004936844:284,938...314,524
Ensembl chrNW_004936844:284,141...314,545 		JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO 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 chrNW_004936469:13,194,769...13,345,979
Ensembl chrNW_004936469:13,256,925...13,345,978 		JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chrNW_004936512:9,164,310...9,281,795
Ensembl chrNW_004936512:9,164,262...9,279,688 		JBrowse link
G Slc25a12 solute carrier family 25 member 12 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chrNW_004936509:1,994,082...2,077,731
Ensembl chrNW_004936509:1,990,116...2,077,938 		JBrowse link
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chrNW_004936474:25,058,892...25,248,378
Ensembl chrNW_004936474:25,058,892...25,248,378 		JBrowse link
G Synj1 synaptojanin 1 ISO 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 chrNW_004936500:9,484,571...9,565,980
Ensembl chrNW_004936500:9,484,586...9,566,100 		JBrowse link
G Szt2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936474:24,788,175...24,837,471
Ensembl chrNW_004936474:24,788,195...24,837,395 		JBrowse link
G Tbc1d24 TBC1 domain family member 24 ISO 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 Annotator: match by term: X-linked infantile spasms		 ClinVar PMID:3402014 PMID:9536098 PMID:10574461 PMID:10741954 PMID:16199547 More... NCBI chrNW_004936694:1,556,717...1,582,019
Ensembl chrNW_004936694:1,556,244...1,569,201 		JBrowse link
G Tedc2 tubulin epsilon and delta complex 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chrNW_004936694:1,591,392...1,595,693
Ensembl chrNW_004936694:1,590,919...1,595,719 		JBrowse link
G Traf7 TNF receptor associated factor 7 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chrNW_004936694:1,868,309...1,886,772 JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chrNW_004936694:1,958,152...1,993,373
Ensembl chrNW_004936694:1,958,154...1,993,363 		JBrowse link
G Ufsp2 UFM1 specific peptidase 2 ISO ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome ClinVar PMID:25741868 PMID:25741905 PMID:28492532 PMID:33473208 NCBI chrNW_004936554:3,926,046...3,945,575
Ensembl chrNW_004936554:3,925,982...3,948,450 		JBrowse link
G Wwox WW domain containing oxidoreductase ISO 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 Annotator: match by term: X-linked infantile spasms ClinVar PMID:9536098 PMID:11572989 PMID:11956080 PMID:16199547 PMID:17576681 More... NCBI chrNW_004936475:26,342,245...27,209,563
Ensembl chrNW_004936475:26,342,220...27,208,711 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9491
      electroclinical syndrome 1253
        developmental and epileptic encephalopathy 905
          developmental and epileptic encephalopathy 1 54
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        central nervous system disease 11056
          brain disease 10378
            epilepsy 2624
              electroclinical syndrome 1253
                neonatal period electroclinical syndrome 878
                  early infantile epileptic encephalopathy 857
                    developmental and epileptic encephalopathy 1 54
paths to the root