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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:Dravet syndrome
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Accession:DOID:0080422 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by onset of seizures that are usually refractory to treatment in the first year of life after normal early development and impaired psychomoter development starting around the second year of life that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24. (DO)
Synonyms:exact_synonym: DEE6;   DEE6A;   Dravet syndromes;   EIEE6;   SMEI;   developmental and epileptic encephalopathy 6;   developmental and epileptic encephalopathy 6A;   early infantile epileptic encephalopathy 6;   severe myoclonic epilepsy in infancy;   severe myoclonic epilepsy of infancy
 primary_id: OMIM:607208
 alt_id: DOID:0060171
 xref: GARD:10430;   NCI:C116573;   NCI:C147071;   ORDO:33069
For additional species annotation, visit the Alliance of Genome Resources.



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Dravet syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cgn cingulin ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 2:182,308,389...182,335,747
Ensembl chr 2:182,308,714...182,334,645
JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO ClinVar Annotator: match by term: Dravet syndrome ClinVar NCBI chr10:26,376,805...26,463,680
Ensembl chr10:26,374,694...26,464,346
JBrowse link
G Lysmd1 LysM domain containing 1 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 2:182,704,921...182,714,466
Ensembl chr 2:182,704,916...182,710,412
JBrowse link
G Pi4kb phosphatidylinositol 4-kinase beta ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 2:182,540,377...182,572,684
Ensembl chr 2:182,540,567...182,588,488
JBrowse link
G Pip5k1a phosphatidylinositol-4-phosphate 5-kinase, type 1, alpha ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 2:182,628,299...182,671,584
Ensembl chr 2:182,628,300...182,671,598
JBrowse link
G Pogz pogo transposable element derived with ZNF domain ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 2:182,394,269...182,440,711
Ensembl chr 2:182,380,768...182,440,707
JBrowse link
G Psmb4 proteasome 20S subunit beta 4 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 2:182,442,757...182,445,532
Ensembl chr 2:182,442,756...182,445,746
JBrowse link
G Psmd4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 2:182,598,934...182,608,250
Ensembl chr 2:182,598,934...182,608,194
JBrowse link
G Rfx5 regulatory factor X5 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 2:182,521,131...182,528,720
Ensembl chr 2:182,521,202...182,528,717
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Dravet syndrome
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar
OMIM
PMID:1868258 PMID:1893009 PMID:1893099 PMID:9536098 PMID:10486327 More... NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Dravet syndrome
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar PMID:21698661 PMID:23895530 PMID:25250524 PMID:25741868 PMID:26467025 More... NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516
JBrowse link
G Selenbp1 selenium binding protein 1 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532
G Snx27 sorting nexin 27 ISO ClinVar Annotator: match by term: Dravet syndrome
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar PMID:9536098 PMID:17576681 PMID:25894286 PMID:28492532 NCBI chr 2:182,135,904...182,218,906
Ensembl chr 2:182,135,905...182,218,906
JBrowse link
G Tmod4 tropomodulin 4 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 2:182,695,709...182,700,540
Ensembl chr 2:182,695,709...182,700,540
JBrowse link
G Tnfaip8l2 TNF alpha induced protein 8 like 2 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 2:182,710,433...182,726,724
Ensembl chr 2:182,709,378...182,726,760
JBrowse link
G Tuft1 tuftelin 1 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 2:182,259,457...182,306,296
Ensembl chr 2:182,260,398...182,306,192
JBrowse link
G Vps72 vacuolar protein sorting 72 homolog ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 2:182,678,594...182,690,185
Ensembl chr 2:182,678,609...182,690,182
JBrowse link
G Zfp687 zinc finger protein 687 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 2:182,572,893...182,581,641
Ensembl chr 2:182,572,662...182,583,647
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      infancy electroclinical syndrome 51
        Dravet syndrome 18
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            epilepsy 2166
              electroclinical syndrome 704
                neonatal period electroclinical syndrome 539
                  early infantile epileptic encephalopathy 521
                    Dravet syndrome 18
paths to the root