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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 30
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Accession:DOID:0080465 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by onset in the first few months of life of refractory seizures andseverely impaired or absent developmental progress that has_material_basis_in heterozygous mutation in the SIK1 gene on chromosome 21q22. (DO)
Synonyms:exact_synonym: DEE30;   EIEE30;   early infantile epileptic encephalopathy 30
 primary_id: OMIM:616341


show annotations for term's descendants           Sort by:
developmental and epileptic encephalopathy 30 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG1 ATP binding cassette subfamily G member 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:42,199,689...42,297,244
Ensembl chr21:42,199,689...42,297,244 		JBrowse link
G ADARB1 adenosine deaminase RNA specific B1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:45,074,578...45,226,563
Ensembl chr21:45,073,853...45,226,560 		JBrowse link
G AGPAT3 1-acylglycerol-3-phosphate O-acyltransferase 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:25839329 PMID:28492532 NCBI chr21:43,865,223...43,987,592
Ensembl chr21:43,865,223...43,987,592 		JBrowse link
G AIRE autoimmune regulator IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,285,876...44,298,648
Ensembl chr21:44,285,838...44,298,648 		JBrowse link
G C21orf58 chromosome 21 open reading frame 58 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:46,300,430...46,323,870
Ensembl chr21:46,300,181...46,323,875 		JBrowse link
G C2CD2 C2 calcium dependent domain containing 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:41,885,112...41,954,018
Ensembl chr21:41,885,112...41,954,018 		JBrowse link
G CBS cystathionine beta-synthase IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,053,191...43,076,943 		JBrowse link
G CFAP410 cilia and flagella associated protein 410 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,328,944...44,339,390
Ensembl chr21:44,328,944...44,339,402 		JBrowse link
G COL18A1 collagen type XVIII alpha 1 chain IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:45,405,165...45,513,720
Ensembl chr21:45,405,165...45,513,720 		JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050 		JBrowse link
G COL6A2 collagen type VI alpha 2 chain IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848 		JBrowse link
G CRYAA crystallin alpha A IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:43,169,008...43,172,810
Ensembl chr21:43,169,008...43,172,805 		JBrowse link
G CSTB cystatin B IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:25839329 PMID:28492532 NCBI chr21:43,773,950...43,776,308
Ensembl chr21:43,772,511...43,776,330 		JBrowse link
G DNMT3L DNA methyltransferase 3 like IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,246,339...44,261,897
Ensembl chr21:44,246,339...44,262,216 		JBrowse link
G FTCD formimidoyltransferase cyclodeaminase IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:46,136,262...46,155,579
Ensembl chr21:46,136,160...46,155,579 		JBrowse link
G GATD3 glutamine amidotransferase class 1 domain containing 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:25839329 PMID:28492532 NCBI chr21:44,133,683...44,145,711
Ensembl chr21:44,133,610...44,210,114 		JBrowse link
G HSF2BP heat shock transcription factor 2 binding protein IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:25839329 PMID:28492532 NCBI chr21:43,444,972...43,659,488
Ensembl chr21:43,529,186...43,659,488 		JBrowse link
G ICOSLG inducible T cell costimulator ligand IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,216,981...44,240,943
Ensembl chr21:44,215,382...44,241,446 		JBrowse link
G ITGB2 integrin subunit beta 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,885,953...44,928,815
Ensembl chr21:44,885,953...44,931,989 		JBrowse link
G KRTAP10-1 keratin associated protein 10-1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,538,981...44,540,195
Ensembl chr21:44,538,981...44,540,195 		JBrowse link
G KRTAP10-10 keratin associated protein 10-10 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,637,356...44,638,455
Ensembl chr21:44,637,356...44,638,455 		JBrowse link
G KRTAP10-11 keratin associated protein 10-11 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,646,414...44,647,650
Ensembl chr21:44,646,414...44,647,650 		JBrowse link
G KRTAP10-12 keratin associated protein 10-12 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,697,172...44,698,044
Ensembl chr21:44,697,172...44,698,044 		JBrowse link
G KRTAP10-2 keratin associated protein 10-2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,550,357...44,551,505
Ensembl chr21:44,550,357...44,551,505 		JBrowse link
G KRTAP10-3 keratin associated protein 10-3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,557,790...44,558,795
Ensembl chr21:44,557,790...44,558,795 		JBrowse link
G KRTAP10-4 keratin associated protein 10-4 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,573,729...44,575,371
Ensembl chr21:44,573,729...44,575,371 		JBrowse link
G KRTAP10-5 keratin associated protein 10-5 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,579,455...44,580,604
Ensembl chr21:44,579,455...44,580,604 		JBrowse link
G KRTAP10-6 keratin associated protein 10-6 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,591,268...44,592,505
Ensembl chr21:44,591,268...44,592,505 		JBrowse link
G KRTAP10-7 keratin associated protein 10-7 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,600,597...44,602,174
Ensembl chr21:44,600,597...44,602,174 		JBrowse link
G KRTAP10-8 keratin associated protein 10-8 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,612,079...44,612,954
Ensembl chr21:44,612,079...44,612,954 		JBrowse link
G KRTAP10-9 keratin associated protein 10-9 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,627,093...44,628,378
Ensembl chr21:44,627,093...44,628,378 		JBrowse link
G KRTAP12-1 keratin associated protein 12-1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,681,576...44,682,163
Ensembl chr21:44,681,576...44,682,163 		JBrowse link
G KRTAP12-2 keratin associated protein 12-2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,666,189...44,666,927
Ensembl chr21:44,666,189...44,666,927 		JBrowse link
G KRTAP12-3 keratin associated protein 12-3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,657,932...44,658,341
Ensembl chr21:44,657,932...44,658,341 		JBrowse link
G KRTAP12-4 keratin associated protein 12-4 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,654,213...44,654,659
Ensembl chr21:44,654,213...44,654,659 		JBrowse link
G LINC00163 long intergenic non-protein coding RNA 163 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,989,864...44,994,086
Ensembl chr21:44,989,864...44,994,086 		JBrowse link
G LINC00315 long intergenic non-protein coding RNA 315 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 Ensembl chr21:45,300,245...45,305,257 JBrowse link
G LINC00334 long intergenic non-protein coding RNA 334 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:45,234,340...45,258,730
Ensembl chr21:45,234,308...45,264,548 		JBrowse link
G LRRC3 leucine rich repeat containing 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,455,510...44,462,196
Ensembl chr21:44,455,510...44,462,196 		JBrowse link
G LSS lanosterol synthase IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:46,188,446...46,228,774
Ensembl chr21:46,188,141...46,228,824 		JBrowse link
G MCM3AP minichromosome maintenance complex component 3 associated protein IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:46,235,133...46,286,265
Ensembl chr21:46,235,133...46,286,297 		JBrowse link
G NDUFV3 NADH:ubiquinone oxidoreductase subunit V3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:42,893,309...42,913,299
Ensembl chr21:42,879,644...42,913,304 		JBrowse link
G PCBP3 poly(rC) binding protein 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:45,643,725...45,942,450
Ensembl chr21:45,643,694...45,942,454 		JBrowse link
G PCNT pericentrin IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769 		JBrowse link
G PDE9A phosphodiesterase 9A IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:42,653,621...42,775,509
Ensembl chr21:42,653,621...42,775,509 		JBrowse link
G PDXK pyridoxal kinase IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:25839329 PMID:28492532 NCBI chr21:43,719,129...43,762,299
Ensembl chr21:43,719,094...43,762,307 		JBrowse link
G PFKL phosphofructokinase, liver type IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,300,053...44,327,373
Ensembl chr21:44,300,051...44,327,376 		JBrowse link
G PKNOX1 PBX/knotted 1 homeobox 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:42,974,562...43,033,931
Ensembl chr21:42,974,510...43,033,931 		JBrowse link
G POFUT2 protein O-fucosyltransferase 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:45,263,935...45,287,895
Ensembl chr21:45,263,928...45,287,898 		JBrowse link
G PRDM15 PR/SET domain 15 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:41,798,225...41,879,344
Ensembl chr21:41,798,225...41,879,482 		JBrowse link
G PTTG1IP PTTG1 interacting protein IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,849,598...44,873,690
Ensembl chr21:44,849,585...44,873,903 		JBrowse link
G PWP2 PWP2 small subunit processome component IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:25839329 PMID:28492532 NCBI chr21:44,107,399...44,131,181
Ensembl chr21:44,107,373...44,131,181 		JBrowse link
G RIPK4 receptor interacting serine/threonine kinase 4 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089 		JBrowse link
G RRP1 ribosomal RNA processing 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:25839329 PMID:28492532 NCBI chr21:43,789,577...43,805,293
Ensembl chr21:43,789,513...43,805,293 		JBrowse link
G RRP1B ribosomal RNA processing 1B IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:25839329 PMID:28492532 NCBI chr21:43,659,560...43,696,079
Ensembl chr21:43,659,560...43,696,079 		JBrowse link
G RSPH1 radial spoke head component 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:42,472,486...42,496,224
Ensembl chr21:42,472,486...42,496,246 		JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:23935176 PMID:25741868 PMID:26648591 PMID:26993267 PMID:27867041 More... NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310 		JBrowse link
G SIK1 salt inducible kinase 1 IAGP
EXP		 ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8596935 PMID:9536098 PMID:15511237 PMID:16199547 PMID:17576681 More... NCBI chr21:43,414,483...43,427,131
Ensembl chr21:43,414,483...43,427,131 		JBrowse link
G SLC19A1 solute carrier family 19 member 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:45,502,517...45,563,025
Ensembl chr21:45,493,572...45,573,365 		JBrowse link
G SLC37A1 solute carrier family 37 member 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:42,499,622...42,581,426
Ensembl chr21:42,496,008...42,581,440 		JBrowse link
G SLX9 SLX9 ribosome biogenesis factor IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,939,697...44,976,973
Ensembl chr21:44,940,025...44,976,973 		JBrowse link
G SPATC1L spermatogenesis and centriole associated 1 like IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:46,161,160...46,184,459
Ensembl chr21:46,161,148...46,184,476 		JBrowse link
G SUMO3 small ubiquitin like modifier 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,805,617...44,818,062
Ensembl chr21:44,805,617...44,818,779 		JBrowse link
G TFF1 trefoil factor 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:42,362,282...42,366,535
Ensembl chr21:42,362,282...42,366,535 		JBrowse link
G TFF2 trefoil factor 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:42,346,357...42,350,994
Ensembl chr21:42,346,357...42,350,997 		JBrowse link
G TFF3 trefoil factor 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:42,311,667...42,315,409
Ensembl chr21:42,311,667...42,315,409 		JBrowse link
G TMPRSS3 transmembrane serine protease 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:42,371,890...42,396,052
Ensembl chr21:42,371,887...42,396,091 		JBrowse link
G TRAPPC10 trafficking protein particle complex subunit 10 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:25839329 PMID:28492532 NCBI chr21:44,012,309...44,106,552
Ensembl chr21:44,012,309...44,106,552 		JBrowse link
G TRPM2 transient receptor potential cation channel subfamily M member 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,353,621...44,442,644
Ensembl chr21:44,350,163...44,443,081 		JBrowse link
G TSPEAR thrombospondin type laminin G domain and EAR repeats IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,497,893...44,711,572
Ensembl chr21:44,497,893...44,711,572 		JBrowse link
G U2AF1 U2 small nuclear RNA auxiliary factor 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:43,092,956...43,107,578
Ensembl chr21:43,092,956...43,107,570 		JBrowse link
G UBASH3A ubiquitin associated and SH3 domain containing A IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:42,403,902...42,447,684
Ensembl chr21:42,403,447...42,447,684 		JBrowse link
G UBE2G2 ubiquitin conjugating enzyme E2 G2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,768,580...44,801,820
Ensembl chr21:44,768,580...44,801,826 		JBrowse link
G UMODL1 uromodulin like 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:42,062,877...42,142,996
Ensembl chr21:42,062,959...42,143,453 		JBrowse link
G WDR4 WD repeat domain 4 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:42,843,094...42,892,998
Ensembl chr21:42,843,094...42,879,568 		JBrowse link
G YBEY ybeY metalloendoribonuclease IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:46,286,342...46,313,225
Ensembl chr21:46,286,342...46,297,751 		JBrowse link
G ZBTB21 zinc finger and BTB domain containing 21 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:41,986,831...42,010,360
Ensembl chr21:41,986,831...42,010,387 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35753
    syndrome 18144
      electroclinical syndrome 1763
        developmental and epileptic encephalopathy 1318
          developmental and epileptic encephalopathy 30 77
Path 2
Term Annotations click to browse term
  disease 35753
    disease of anatomical entity 32492
      nervous system disease 26372
        central nervous system disease 23607
          brain disease 22046
            epilepsy 3694
              electroclinical syndrome 1763
                neonatal period electroclinical syndrome 1282
                  early infantile epileptic encephalopathy 1257
                    developmental and epileptic encephalopathy 30 77
paths to the root