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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 26
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Accession:DOID:0080461 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by onset in the first years of life of seizures, developmental delay, intellectual disability, poor speech, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KCNB1 gene on chromosome 20q13. (DO)
Synonyms:exact_synonym: DEE26;   EIEE26;   KCNB1-related disorder;   early infantile epileptic encephalopathy 26;   epileptic encephalopathy-26
 primary_id: OMIM:616056
 xref: GARD:12391;   NCI:C175047


show annotations for term's descendants           Sort by:
developmental and epileptic encephalopathy 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arfgef2 ADP ribosylation factor guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 ClinVar PMID:28492532 NCBI chr 3:155,547,504...155,633,652
Ensembl chr 3:155,547,538...155,630,856 		JBrowse link
G Cse1l chromosome segregation 1 like ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 ClinVar PMID:28492532 NCBI chr 3:155,641,104...155,678,866
Ensembl chr 3:155,641,166...155,678,865 		JBrowse link
G Ddx27 DEAD-box helicase 27 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 ClinVar PMID:28492532 NCBI chr 3:155,744,182...155,763,380
Ensembl chr 3:155,744,150...155,763,372 		JBrowse link
G Kcnb1 potassium voltage-gated channel subfamily B member 1 susceptibility
exacerbates		 ISO DNA:missense mutations, nonsense mutations, frameshift mutation:CDS:multiple (human)
DNA:missense mutation:CDS:p.G379R (mouse)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 26 | ClinVar Annotator: match by term: KCNB1-related disorder		 OMIM
CTD
ClinVar
RGD		 PMID:3153310 PMID:8698327 PMID:9536098 PMID:17576681 PMID:19029374 More... RGD:126908008, RGD:126908009 NCBI chr 3:155,820,255...155,913,383
Ensembl chr 3:155,822,963...155,916,194 		JBrowse link
G Snord12 small nucleolar RNA, C/D box 12 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 ClinVar NCBI chr 3:155,794,227...155,794,317
Ensembl chr 3:155,794,227...155,794,317 		JBrowse link
G Snord12c small nucleolar RNA, C/D box 12C ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 ClinVar NCBI chr 3:155,792,525...155,792,616
Ensembl chr 3:155,792,525...155,792,616 		JBrowse link
G Stau1 staufen double-stranded RNA binding protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 ClinVar PMID:28492532 NCBI chr 3:155,680,000...155,725,969
Ensembl chr 3:155,680,000...155,725,909 		JBrowse link
G Znfx1 zinc finger, NFX1-type containing 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 ClinVar PMID:28492532 NCBI chr 3:155,764,073...155,791,777
Ensembl chr 3:155,764,980...155,821,242 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      electroclinical syndrome 1357
        developmental and epileptic encephalopathy 982
          developmental and epileptic encephalopathy 26 8
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            epilepsy 2811
              electroclinical syndrome 1357
                neonatal period electroclinical syndrome 952
                  early infantile epileptic encephalopathy 931
                    developmental and epileptic encephalopathy 26 8
paths to the root