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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



show annotations for term's descendants           Sort by:
Dravet syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAT1 BRCA1 associated ATM activator 1 ISO ClinVar Annotator: match by term: Dravet syndrome ClinVar PMID:22279524 PMID:25500575 PMID:25741868 PMID:28492532 PMID:29390993 NCBI chr 3:1,905,648...1,918,229
Ensembl chr 3:1,905,656...1,918,227
JBrowse link
G CGN cingulin ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 4:97,704,805...97,730,498 JBrowse link
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar NCBI chr16:61,441,622...61,543,375
Ensembl chr16:61,441,632...61,543,361
JBrowse link
G LYSMD1 LysM domain containing 1 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 4:98,082,551...98,093,427
Ensembl chr 4:98,082,540...98,095,322
JBrowse link
G PI4KB phosphatidylinositol 4-kinase beta ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 4:97,918,234...97,949,929
Ensembl chr 4:97,918,245...97,949,931
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 4:98,012,941...98,062,166
Ensembl chr 4:98,012,945...98,056,815
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 4:97,776,579...97,833,287
Ensembl chr 4:97,776,589...97,833,282
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 4:97,835,544...97,837,909
Ensembl chr 4:97,835,547...97,837,921
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 4:97,994,060...98,004,727
Ensembl chr 4:97,994,065...98,004,688
JBrowse link
G RFX5 regulatory factor X5 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 4:97,901,955...97,913,283
Ensembl chr 4:97,902,172...97,913,283
JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6A | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 6 | ClinVar Annotator: match by term: Dravet syndrome | ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy 6 | ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy OMIM
ClinVar
PMID:1893009 PMID:1893099 PMID:9536098 PMID:9573403 PMID:10486327 More... NCBI chr15:72,529,866...72,696,715
Ensembl chr15:72,529,875...72,678,066
JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 6:44,597,461...44,607,488
Ensembl chr 6:44,597,482...44,607,481
JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar NCBI chr15:71,864,753...71,999,219
Ensembl chr15:71,864,784...71,999,211
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:19763161 PMID:21698661 PMID:22136189 PMID:23280954 PMID:23895530 More... NCBI chr15:72,745,706...72,912,352
Ensembl chr15:72,748,705...72,912,382
JBrowse link
G SELENBP1 selenium binding protein 1 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 4:97,860,925...97,894,007
Ensembl chr 4:97,837,981...97,894,301
JBrowse link
G SNX27 sorting nexin 27 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:25894286 PMID:28492532 More... NCBI chr 4:97,533,643...97,620,816
Ensembl chr 4:97,525,181...97,620,788
JBrowse link
G TMOD4 tropomodulin 4 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 4:98,074,380...98,079,346
Ensembl chr 4:98,074,387...98,079,343
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 4:98,093,426...98,096,819
Ensembl chr 4:98,093,426...98,096,531
JBrowse link
G TUFT1 tuftelin 1 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 4:97,648,817...97,704,654
Ensembl chr 4:97,648,818...97,703,592
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 4:98,062,261...98,074,074
Ensembl chr 4:98,062,256...98,074,059
JBrowse link
G ZNF687 zinc finger protein 687 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 4:97,949,931...97,959,058
Ensembl chr 4:97,949,931...97,958,882
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17416
    syndrome 9845
      infancy electroclinical syndrome 112
        Dravet syndrome 21
Path 2
Term Annotations click to browse term
  disease 17416
    disease of anatomical entity 14866
      nervous system disease 12941
        central nervous system disease 11589
          brain disease 10880
            epilepsy 2733
              electroclinical syndrome 1317
                neonatal period electroclinical syndrome 934
                  early infantile epileptic encephalopathy 914
                    Dravet syndrome 21
paths to the root