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 21
Accession: DOID:0080443
browse the term
Definition: A developmental and epileptic encephalopathy characterized by onset in the first months of life by intractable seizures and severely impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the NECAP1 gene on chromosome 12p13. (DO)
Synonyms: exact_synonym: DEE21; EIEE21; early infantile epileptic encephalopathy 21
primary_id: OMIM:615833
For additional species annotation, visit the
Alliance of Genome Resources .
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Acsm4
acyl-CoA synthetase medium-chain family member 4
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21
ClinVar
PMID:28492532
NCBI chr 1:189,432,604...189,458,799
Ensembl chr 1:189,432,604...189,457,048
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Aicda
activation-induced cytidine deaminase
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21
ClinVar
PMID:28492532
NCBI chr 4:155,359,909...155,371,104
Ensembl chr 4:155,359,921...155,369,671
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Apobec1
apolipoprotein B mRNA editing enzyme catalytic subunit 1
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21
ClinVar
PMID:28492532
NCBI chr 4:155,386,367...155,414,034
Ensembl chr 4:155,386,711...155,401,480
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Atn1
atrophin 1
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21
ClinVar
PMID:28492532
NCBI chr 4:157,267,394...157,281,199
Ensembl chr 4:157,267,901...157,274,755 Ensembl chr 9:157,267,901...157,274,755
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C1r
complement C1r
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21
ClinVar
PMID:28492532
NCBI chr 4:157,126,060...157,136,825
Ensembl chr 4:157,125,998...157,136,829
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C1rl
complement C1r subcomponent like
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21
ClinVar
PMID:28492532
NCBI chr 4:157,108,190...157,122,689
Ensembl chr 4:157,107,469...157,123,446
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C1s
complement C1s
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21
ClinVar
PMID:28492532
NCBI chr 4:157,143,592...157,155,592
Ensembl chr 4:157,143,592...157,155,609
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C3ar1
complement C3a receptor 1
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21
ClinVar
PMID:28492532
NCBI chr 4:155,681,767...155,691,240
Ensembl chr 4:155,684,029...155,690,869
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Cd163
CD163 molecule
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21
ClinVar
PMID:28492532
NCBI chr 4:156,752,063...156,785,467
Ensembl chr 4:156,752,082...156,785,467
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Cdca3
cell division cycle associated 3
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21
ClinVar
PMID:28492532
NCBI chr 4:157,347,876...157,351,889
Ensembl chr 4:157,348,020...157,351,604
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Clec4a
C-type lectin domain family 4, member A
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21
ClinVar
PMID:28492532
NCBI chr 4:156,049,800...156,069,260
Ensembl chr 4:156,050,054...156,069,313
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Clec4a1
C-type lectin domain family 4, member A1
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21
ClinVar
PMID:28492532
NCBI chr 4:155,947,794...155,959,909
Ensembl chr 4:155,947,453...155,959,993
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Clec4a3
C-type lectin domain family 4, member A3
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21
ClinVar
PMID:28492532
NCBI chr 4:155,913,366...155,923,079
Ensembl chr 4:155,913,366...155,923,079
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Clec4b2
C-type lectin domain family 4, member B2
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21
ClinVar
PMID:28492532
NCBI chr 4:156,107,720...156,131,226
Ensembl chr 4:156,107,620...156,131,583
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Clec4d
C-type lectin domain family 4, member D
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21
ClinVar
PMID:28492532
NCBI chr 4:156,253,084...156,264,766
Ensembl chr 4:156,253,079...156,264,769
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Clec4e
C-type lectin domain family 4, member E
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21
ClinVar
PMID:28492532
NCBI chr 4:156,271,087...156,276,243
Ensembl chr 4:156,270,920...156,276,304
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Clstn3
calsyntenin 3
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21
ClinVar
PMID:28492532
NCBI chr 4:157,044,736...157,078,013
Ensembl chr 4:157,043,925...157,078,130
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Dppa3
developmental pluripotency-associated 3
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21
ClinVar
PMID:28492532
NCBI chr 4:155,437,675...155,441,059
Ensembl chr 3:111,298,713...111,299,189 Ensembl chr 4:111,298,713...111,299,189
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Emg1
EMG1 N1-specific pseudouridine methyltransferase
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21
ClinVar
PMID:28492532
NCBI chr 4:157,222,366...157,230,647
Ensembl chr 4:157,222,385...157,230,647
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Eno2
enolase 2
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21
ClinVar
PMID:28492532
NCBI chr 4:157,285,192...157,294,090
Ensembl chr 4:157,285,179...157,294,047 Ensembl chr 9:157,285,179...157,294,047
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Fam90a1
family with sequence similarity 90, member A1
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21
ClinVar
PMID:28492532
NCBI chr16:75,001,033...75,016,173
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Foxj2
forkhead box J2
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21
ClinVar
PMID:28492532
NCBI chr 4:155,653,446...155,679,815
Ensembl chr 4:155,653,718...155,679,793
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Gdf3
growth differentiation factor 3
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21
ClinVar
PMID:28492532
NCBI chr 4:155,417,667...155,422,014
Ensembl chr 4:155,417,004...155,421,998
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Gnb3
G protein subunit beta 3
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21
ClinVar
PMID:28492532
NCBI chr 4:157,352,558...157,359,237
Ensembl chr 4:157,352,372...157,358,262
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Grcc10
gene rich cluster, C10 gene
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21
ClinVar
PMID:28492532
NCBI chr 4:157,264,383...157,266,042
Ensembl chr 4:157,264,383...157,266,018 Ensembl chr 9:157,264,383...157,266,018
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Lpcat3
lysophosphatidylcholine acyltransferase 3
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21
ClinVar
PMID:28492532
NCBI chr 4:157,181,722...157,222,997
Ensembl chr 4:157,181,795...157,222,996
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Lrrc23
leucine rich repeat containing 23
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21
ClinVar
PMID:28492532
NCBI chr 4:157,294,386...157,304,590
Ensembl chr 4:157,294,287...157,304,653 Ensembl chr 9:157,294,287...157,304,653
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Mfap5
microfibril associated protein 5
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21
ClinVar
PMID:28492532
NCBI chr 4:155,313,671...155,336,228
Ensembl chr 4:155,313,671...155,336,228
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Mir141
microRNA 141
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21
ClinVar
PMID:28492532
NCBI chr 4:157,236,346...157,236,439
Ensembl chr 4:157,236,346...157,236,439
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Mir200c
microRNA 200c
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21
ClinVar
PMID:28492532
NCBI chr 4:157,236,786...157,236,854
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Nanog
Nanog homeobox
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21
ClinVar
PMID:28492532
NCBI chr 4:155,531,906...155,539,268
Ensembl chr 4:155,531,906...155,539,268
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Necap1
NECAP endocytosis associated 1
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21
OMIM ClinVar
PMID:24399846 PMID:25558065 PMID:25741868 PMID:28492532 PMID:30525121 PMID:30626896
NCBI chr 4:155,709,712...155,724,801
Ensembl chr 4:155,709,613...155,724,790
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P3h3
prolyl 3-hydroxylase 3
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21
ClinVar
PMID:28492532
NCBI chr 4:157,359,331...157,375,186
Ensembl chr 4:157,359,332...157,372,861
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Pex5
peroxisomal biogenesis factor 5
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21
ClinVar
PMID:28492532
NCBI chr 4:156,983,914...157,009,675
Ensembl chr 4:156,983,915...157,009,674 Ensembl chr 4:156,983,915...157,009,674
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Phb2
prohibitin 2
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21
ClinVar
PMID:28492532
NCBI chr 4:157,230,769...157,235,375
Ensembl chr 4:157,230,769...157,235,367
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Ptpn6
protein tyrosine phosphatase, non-receptor type 6
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21
ClinVar
PMID:28492532
NCBI chr 4:157,239,141...157,263,890
Ensembl chr 4:157,239,142...157,263,890
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Rimklb
ribosomal modification protein rimK-like family member B
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21
ClinVar
PMID:28492532
NCBI chr 4:155,258,241...155,292,809
Ensembl chr 4:155,260,103...155,275,161
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Slc2a3
solute carrier family 2 member 3
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21
ClinVar
PMID:28492532
NCBI chr 4:155,549,991...155,626,018
Ensembl chr 4:155,408,233...155,631,856 Ensembl chr 4:155,408,233...155,631,856
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Spsb2
splA/ryanodine receptor domain and SOCS box containing 2
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21
ClinVar
PMID:28492532
NCBI chr 4:157,325,980...157,328,380
Ensembl chr 4:157,326,727...157,328,379 Ensembl chr 9:157,326,727...157,328,379
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Tpi1
triosephosphate isomerase 1
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21
ClinVar
PMID:28492532
NCBI chr 4:157,328,375...157,331,905
Ensembl chr 4:157,328,379...157,331,905 Ensembl chr 9:157,328,379...157,331,905
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Usp5
ubiquitin specific peptidase 5
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21
ClinVar
PMID:28492532
NCBI chr 4:157,332,735...157,347,803
Ensembl chr 4:157,332,740...157,347,803
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