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developmental and epileptic encephalopathy 1 - Ontology Report - Rat Genome Database

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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: MIM: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 PMID:30866059 NCBI chr10:13,886,948...13,944,286
Ensembl chr10:13,382,540...13,439,745 		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 chr18:52,208,035...52,240,293
Ensembl chr18:50,009,934...50,042,193 		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 chr  X:107,906,320...107,968,232
Ensembl chr  X:107,885,093...107,942,695 		JBrowse link
G Amdhd2 amidohydrolase domain containing 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:13,187,579...13,196,148
Ensembl chr10:13,187,578...13,196,095 		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 chr  X:59,919,560...60,077,538
Ensembl chr  X:59,920,870...60,077,513 		JBrowse link
G Arx aristaless related homeobox ISO associated with Mental Retardation, X-Linked;DNA:insertion:cds:c.333_334ins(GCG)7 (human)
CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar
RGD		 PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:9536098 More... RGD:11565838, RGD:11565846 NCBI chr  X:58,016,233...58,028,149
Ensembl chr  X:58,016,233...58,028,142 		JBrowse link
G Atmin ATM interactor ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr19:44,996,506...45,013,606
Ensembl chr19:44,996,356...45,013,605 		JBrowse link
G Atp6v0c ATPase H+ transporting V0 subunit C ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:13,700,764...13,707,147
Ensembl chr10:13,196,204...13,201,500 		JBrowse link
G Bco1 beta-carotene oxygenase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr19:45,149,250...45,186,102
Ensembl chr19:45,149,265...45,186,101 		JBrowse link
G Bicdl2 BICD family like cargo adaptor 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:12,691,610...12,700,049
Ensembl chr10:12,691,610...12,700,049 		JBrowse link
G Bricd5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,498,726...13,500,259
Ensembl chr10:13,498,381...13,500,259 		JBrowse link
G C19h16orf46 similar to human chromosome 16 open reading frame 46 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr19:45,017,499...45,033,453
Ensembl chr19:45,022,280...45,032,683 		JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr19:40,425,560...40,724,810
Ensembl chr19:23,520,741...23,823,225 		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:32461667 PMID:32820246 PMID:32960281 More... NCBI chr 6:25,292,133...25,315,078
Ensembl chr 6:25,292,133...25,319,861 		JBrowse link
G Caskin1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,512,684...13,533,380
Ensembl chr10:13,513,465...13,533,377 		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 chr10:13,757,884...13,783,669
Ensembl chr10:13,253,380...13,279,101 		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 chr  X:33,757,605...33,988,075
Ensembl chr  X:33,821,257...33,986,582 		JBrowse link
G Cdyl2 chromodomain Y-like 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr19:44,591,734...44,783,258
Ensembl chr19:44,597,459...44,783,022 		JBrowse link
G Cenpn centromere protein N ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr19:44,971,265...44,994,019
Ensembl chr19:44,968,308...44,994,012 		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:28492532 PMID:33473208 NCBI chr16:46,291,075...46,315,616
Ensembl chr16:46,291,311...46,315,625 		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 chr 1:127,188,146...127,317,041
Ensembl chr 1:127,190,059...127,300,502 		JBrowse link
G Cldn6 claudin 6 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:13,213,837...13,218,578
Ensembl chr10:12,709,960...12,715,973 		JBrowse link
G Cldn9 claudin 9 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:13,218,728...13,220,159 JBrowse link
G Cmc2 C-x(9)-C motif containing 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr19:44,943,283...44,971,930
Ensembl chr19:44,943,285...44,971,983 		JBrowse link
G Cmip c-Maf-inducing protein ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr19:45,304,597...45,510,653
Ensembl chr19:45,304,031...45,508,709 		JBrowse link
G Csnk1e casein kinase 1, epsilon ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar NCBI chr 7:112,863,726...112,887,338
Ensembl chr 7:110,983,318...111,006,794 		JBrowse link
G Dnase1l2 deoxyribonuclease 1 like 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,471,850...13,473,447
Ensembl chr10:13,471,479...13,473,763 		JBrowse link
G Dnm1 dynamin 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:27066543 PMID:28667181 PMID:29397573 PMID:30097719 More... NCBI chr 3:36,002,535...36,055,220
Ensembl chr 3:15,604,784...15,648,538 		JBrowse link
G Dynlrb2 dynein light chain roadblock-type 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr19:44,520,134...44,531,384
Ensembl chr19:44,520,134...44,531,387 		JBrowse link
G E4f1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,471,478...13,495,018
Ensembl chr10:13,474,456...13,485,974 		JBrowse link
G Eci1 enoyl-CoA delta isomerase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,456,715...13,470,061
Ensembl chr10:13,456,563...13,470,061 		JBrowse link
G Elob elongin B ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:12,848,830...12,853,897
Ensembl chr10:12,848,827...12,853,635 		JBrowse link
G Eme2 essential meiotic structure-specific endonuclease subunit 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,913,216...13,915,991
Ensembl chr10:13,913,221...13,915,968 		JBrowse link
G Fahd1 fumarylacetoacetate hydrolase domain containing 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,873,539...13,874,978
Ensembl chr10:13,873,527...13,875,012 		JBrowse link
G Flywch1 FLYWCH-type zinc finger 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:12,774,644...12,794,373
Ensembl chr10:12,774,653...12,794,267 		JBrowse link
G Flywch2 FLYWCH family member 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:12,798,757...12,807,082
Ensembl chr10:12,798,762...12,806,439 		JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr 1:108,467,047...108,702,522
Ensembl chr 1:108,296,124...108,698,961 		JBrowse link
G Gan gigaxonin ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr19:45,207,783...45,265,066
Ensembl chr19:45,207,184...45,254,107 		JBrowse link
G Gcsh glycine cleavage system protein H ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr19:45,036,013...45,046,770
Ensembl chr19:45,036,011...45,046,792 		JBrowse link
G Gfer growth factor, augmenter of liver regeneration ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,718,489...13,721,782
Ensembl chr10:13,718,489...13,720,869 		JBrowse link
G Gnao1 G protein subunit alpha o1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr19:11,040,788...11,198,437
Ensembl chr19:11,035,956...11,192,493 		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 chr 3:28,501,836...28,528,754
Ensembl chr 3:8,103,680...8,130,603 		JBrowse link
G Hagh hydroxyacyl glutathione hydrolase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,874,883...13,889,527
Ensembl chr10:13,875,241...13,889,504 		JBrowse link
G Hcfc1r1 host cell factor C1 regulator 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:12,705,139...12,706,852
Ensembl chr10:12,705,077...12,706,850 		JBrowse link
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24747641 NCBI chr 2:49,495,771...49,899,983
Ensembl chr 2:49,495,771...49,899,774 		JBrowse link
G Hnrnpu heterogeneous nuclear ribonucleoprotein U ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar NCBI chr13:92,609,791...92,618,580
Ensembl chr13:90,074,181...90,086,588 		JBrowse link
G Hs3st6 heparan sulfate-glucosamine 3-sulfotransferase 6 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,781,999...13,788,133
Ensembl chr10:13,781,993...13,788,133 		JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677 		JBrowse link
G Itpa inosine triphosphatase ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:26224535 PMID:28492532 NCBI chr 3:138,338,549...138,350,329
Ensembl chr 3:117,885,099...117,897,249 		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 chr 2:194,704,555...194,718,387
Ensembl chr 2:194,704,639...194,718,400 		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 chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071 		JBrowse link
G Kctd5 potassium channel tetramerization domain containing 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:13,079,216...13,105,197
Ensembl chr10:13,079,214...13,105,209 		JBrowse link
G Kremen2 kringle containing transmembrane protein 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:12,763,345...12,767,622
Ensembl chr10:12,763,397...12,767,854 		JBrowse link
G Maf MAF bZIP transcription factor ISO 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 chr19:60,259,200...60,622,145
Ensembl chr19:43,360,342...43,712,365 		JBrowse link
G Mdh2 malate dehydrogenase 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:28492532 PMID:36420423 NCBI chr12:26,530,886...26,543,841
Ensembl chr12:20,894,262...20,907,271 		JBrowse link
G Meiob meiosis specific with OB-fold ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,833,170...13,865,684
Ensembl chr10:13,833,750...13,865,046 		JBrowse link
G Mlst8 MTOR associated protein, LST8 homolog ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,498,377...13,504,128
Ensembl chr10:13,498,388...13,504,128 		JBrowse link
G Mmp25 matrix metallopeptidase 25 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:12,661,297...12,676,119
Ensembl chr10:12,661,208...12,675,871 		JBrowse link
G Mrps34 mitochondrial ribosomal protein S34 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,916,024...13,917,155
Ensembl chr10:13,916,026...13,918,406 		JBrowse link
G Msrb1 methionine sulfoxide reductase B1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,764,883...13,770,609
Ensembl chr10:13,764,883...13,770,609 		JBrowse link
G Napb NSF attachment protein beta ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:33189936 NCBI chr 3:136,132,248...136,179,280
Ensembl chr 3:136,133,428...136,179,345 		JBrowse link
G Ndufb10 NADH:ubiquinone oxidoreductase subunit B10 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:14,253,805...14,255,966
Ensembl chr10:13,749,275...13,751,442 		JBrowse link
G Nherf2 NHERF family PDZ scaffold protein 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,662,461...13,672,975
Ensembl chr10:13,662,461...13,673,049 		JBrowse link
G Noxo1 NADPH oxidase organizer 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,723,253...13,726,008
Ensembl chr10:13,721,473...13,726,061 		JBrowse link
G Npw neuropeptide W ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,680,275...13,681,618
Ensembl chr10:13,680,321...13,681,586 		JBrowse link
G Nrxn2 neurexin 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar NCBI chr 1:213,155,673...213,271,526
Ensembl chr 1:203,735,753...203,842,297 		JBrowse link
G Nthl1 nth-like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,655,791...13,661,958
Ensembl chr10:13,655,785...13,661,957 		JBrowse link
G Ntn3 netrin 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,236,905...13,240,001
Ensembl chr10:13,236,905...13,240,001 		JBrowse link
G Nubp2 NUBP iron-sulfur cluster assembly factor 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,903,224...13,906,928
Ensembl chr10:13,903,224...13,906,969 		JBrowse link
G Pacs2 phosphofurin acidic cluster sorting protein 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:20186691 PMID:23733235 PMID:25034272 PMID:25741868 PMID:26626314 More... NCBI chr 6:132,096,992...132,156,702
Ensembl chr 6:132,096,901...132,154,583 		JBrowse link
G Paqr4 progestin and adipoQ receptor family member 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:12,758,970...12,762,649
Ensembl chr10:12,758,972...12,762,584 		JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr  X:101,061,002...101,166,777
Ensembl chr  X:96,771,947...96,873,524 		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 chr  X:62,371,934...62,465,460
Ensembl chr  X:58,378,116...58,468,935 		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 chr  X:62,480,535...62,547,371
Ensembl chr  X:58,486,554...58,553,557 		JBrowse link
G Pdpk1 3-phosphoinositide dependent protein kinase-1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:13,610,000...13,687,226
Ensembl chr10:13,105,498...13,174,623 		JBrowse link
G Pgp phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,495,232...13,497,858
Ensembl chr10:13,494,291...13,497,858 		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 PMID:30866059 NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128 		JBrowse link
G Pkd1l2 polycystin 1 like 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr19:45,049,713...45,136,503
Ensembl chr19:45,049,719...45,135,532 		JBrowse link
G Pkmyt1 protein kinase, membrane associated tyrosine/threonine 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:12,748,221...12,758,995
Ensembl chr10:12,748,237...12,758,995 		JBrowse link
G Plcb1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr 3:142,512,765...143,224,042
Ensembl chr 3:122,060,031...122,772,869 		JBrowse link
G Plcg2 phospholipase C, gamma 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr19:62,456,196...62,592,684
Ensembl chr19:45,547,416...45,683,930 		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 chr  X:58,034,617...58,348,612
Ensembl chr  X:58,034,619...58,348,536 		JBrowse link
G Prss21 serine protease 21 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:12,899,820...12,905,612
Ensembl chr10:12,900,535...12,905,618 		JBrowse link
G Prss22 serine protease 22 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:13,029,153...13,033,863
Ensembl chr10:13,029,153...13,033,863 		JBrowse link
G Prss27 serine protease 27 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:13,069,959...13,077,322
Ensembl chr10:13,069,959...13,077,322 		JBrowse link
G Prss33 serine protease 33 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:12,858,941...12,861,281
Ensembl chr10:12,858,941...12,861,281 		JBrowse link
G Prss41 serine protease 41 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:12,865,872...12,873,552
Ensembl chr10:12,865,872...12,873,552 		JBrowse link
G Rab26 RAB26, member RAS oncogene family ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:14,057,942...14,062,602
Ensembl chr10:13,553,395...13,558,030 		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 chr  X:32,049,455...32,322,317
Ensembl chr  X:32,049,399...32,317,414 		JBrowse link
G Rnf151 ring finger protein 151 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,742,682...13,747,192
Ensembl chr10:13,742,682...13,745,000 		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 PMID:30866059 NCBI chr10:13,445,516...13,455,858
Ensembl chr10:13,445,653...13,455,858 		JBrowse link
G Rpl3l ribosomal protein L3-like ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,753,914...13,764,458
Ensembl chr10:13,753,886...13,764,457 		JBrowse link
G Rps2 ribosomal protein S2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,747,316...13,749,165
Ensembl chr10:13,747,301...13,749,163 		JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr  X:33,962,440...33,992,203
Ensembl chr  X:33,963,657...33,992,115 		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 chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699 		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 chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292 		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 chr 3:56,097,166...56,191,841
Ensembl chr 3:56,097,269...56,192,100 		JBrowse link
G Spsb3 splA/ryanodine receptor domain and SOCS box containing 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,907,175...13,912,841
Ensembl chr10:13,907,253...13,912,841 		JBrowse link
G Srrm2 serine/arginine repetitive matrix 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:12,815,471...12,848,750
Ensembl chr10:12,815,471...12,848,751 		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 chr 5:136,755,780...136,958,081
Ensembl chr 5:131,470,348...131,670,810 		JBrowse link
G Syngr3 synaptogyrin 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,710,553...13,715,309
Ensembl chr10:13,704,998...13,715,669 		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:25316601 PMID:25741868 PMID:27435091 PMID:28492532 NCBI chr11:43,678,709...43,755,526
Ensembl chr11:30,192,629...30,269,220 		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 chr 5:131,897,250...131,943,953
Ensembl chr 5:131,897,275...131,943,904 		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:1029242 PMID:3402014 PMID:9536098 PMID:10574461 PMID:10741954 More... NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050 		JBrowse link
G Tbl3 transducin (beta)-like 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,726,127...13,731,340
Ensembl chr10:13,726,129...13,731,372 		JBrowse link
G Tedc2 tubulin epsilon and delta complex 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,246,032...13,251,196
Ensembl chr10:13,246,037...13,251,124 		JBrowse link
G Thoc6 THO complex subunit 6 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:12,700,051...12,705,411
Ensembl chr10:12,700,051...12,706,925 		JBrowse link
G Tnfrsf12a TNF receptor superfamily member 12A ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:13,211,670...13,213,666
Ensembl chr10:12,689,890...12,709,045 		JBrowse link
G Traf7 TNF receptor associated factor 7 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,533,570...13,552,290
Ensembl chr10:13,533,570...13,552,203 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:14,125,679...14,160,317
Ensembl chr10:13,621,136...13,655,951 		JBrowse link
G Ufsp2 UFM1-specific peptidase 2 ISO ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome ClinVar PMID:25741868 PMID:28492532 PMID:33473208 NCBI chr16:46,272,016...46,291,080
Ensembl chr16:46,272,016...46,291,059 		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 chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391 		JBrowse link
G Zfp598 zinc finger protein 598 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:14,198,763...14,210,773
Ensembl chr10:13,694,286...13,706,233 		JBrowse link
G Zg16b zymogen granule protein 16B ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:12,970,888...12,984,170
Ensembl chr10:12,979,020...12,983,572 		JBrowse link
G Zscan10 zinc finger and SCAN domain containing 10 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:12,636,302...12,646,275
Ensembl chr10:12,636,302...12,646,275 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19143
    syndrome 11406
      electroclinical syndrome 1522
        developmental and epileptic encephalopathy 1128
          developmental and epileptic encephalopathy 1 115
Path 2
Term Annotations click to browse term
  disease 19143
    disease of anatomical entity 18456
      nervous system disease 14362
        central nervous system disease 12645
          brain disease 11865
            epilepsy 2941
              electroclinical syndrome 1522
                neonatal period electroclinical syndrome 1101
                  early infantile epileptic encephalopathy 1080
                    developmental and epileptic encephalopathy 1 115
paths to the root