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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
For additional species annotation, visit the Alliance of Genome Resources.


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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: Epileptic encephalopathy, early infantile, 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: Epileptic encephalopathy, early infantile, 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: Epileptic encephalopathy, early infantile, 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 exacerbates
susceptibility
ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 26
DNA:missense mutation:CDS:p.G379R (mouse)
DNA:missense mutations, nonsense mutations, frameshift mutation:CDS:multiple (human)
ClinVar Annotator: match by term: KCNB1-related disorder
ClinVar
OMIM
PMID:8698327 PMID:25131622 PMID:25164438 PMID:25741868 PMID:26467025 More... RGD:126908009, RGD:126908008 NCBI chr 3:155,820,255...155,913,383
Ensembl chr 3:155,822,963...155,916,194
JBrowse link
G Stau1 staufen double-stranded RNA binding protein 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 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: Epileptic encephalopathy, early infantile, 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 17207
    syndrome 8126
      electroclinical syndrome 699
        developmental and epileptic encephalopathy 529
          developmental and epileptic encephalopathy 26 6
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      nervous system disease 12101
        central nervous system disease 10378
          brain disease 9741
            epilepsy 2155
              electroclinical syndrome 699
                neonatal period electroclinical syndrome 536
                  early infantile epileptic encephalopathy 519
                    developmental and epileptic encephalopathy 26 6
paths to the root