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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:generalized epilepsy with febrile seizures plus 7
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Accession:DOID:0111295 term browser browse the term
Definition:A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN9A on chromosome 2q24.3. (DO)
Synonyms:exact_synonym: GEFS+, type 7;   GEFS+7;   GEFSP7;   generalised epilepsy with febrile seizures plus 7;   generalised epilepsy with febrile seizures plus type 7;   generalized epilepsy with febrile seizures plus, type 7
 narrow_synonym: FEB3B;   GEFS+7 FEBRILE SEIZURES, FAMILIAL, 3B;   familial febrile seizures 3B
 primary_id: MESH:C567827
 alt_id: MIM:613863


show annotations for term's descendants           Sort by:
generalized epilepsy with febrile seizures plus 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSRNP3 cysteine and serine rich nuclear protein 3 IAGP ClinVar Annotator: match by term: GEFS+, TYPE 7 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:165,469,698...165,689,407
Ensembl chr 2:165,469,647...165,689,407 		JBrowse link
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 IAGP ClinVar Annotator: match by term: GEFS+, TYPE 7 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:165,747,588...165,794,692
Ensembl chr 2:165,747,588...165,846,201 		JBrowse link
G LOC100506124 uncharacterized LOC100506124 IAGP ClinVar Annotator: match by term: GEFS+, TYPE 7 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18479393 More... NCBI chr 2:165,857,475...165,871,941 JBrowse link
G LOC120977013 Sharpr-MPRA regulatory region 13511 IAGP ClinVar Annotator: match by term: GEFS+, TYPE 7 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18479393 More... NCBI chr 2:165,293,739...165,294,033 JBrowse link
G LOC126806396 BRD4-independent group 4 enhancer GRCh37_chr2:166317128-166318327 IAGP ClinVar Annotator: match by term: GEFS+, TYPE 7 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18479393 More... NCBI chr 2:165,460,618...165,461,817 JBrowse link
G LOC129388938 MPRA-validated peak3912 silencer IAGP ClinVar Annotator: match by term: GEFS+, TYPE 7 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18479393 More... NCBI chr 2:165,574,005...165,574,205 JBrowse link
G LOC129935043 ATAC-STARR-seq lymphoblastoid silent region 12066 IAGP ClinVar Annotator: match by term: GEFS+, TYPE 7 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18479393 More... NCBI chr 2:165,193,304...165,193,353 JBrowse link
G LOC129935044 ATAC-STARR-seq lymphoblastoid active region 16726 IAGP ClinVar Annotator: match by term: GEFS+, TYPE 7 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18479393 More... NCBI chr 2:165,595,066...165,595,115 JBrowse link
G LOC129935045 ATAC-STARR-seq lymphoblastoid active region 16727 IAGP ClinVar Annotator: match by term: GEFS+, TYPE 7 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18479393 More... NCBI chr 2:165,595,186...165,595,235 JBrowse link
G LOC129935046 ATAC-STARR-seq lymphoblastoid active region 16728 IAGP ClinVar Annotator: match by term: GEFS+, TYPE 7 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18479393 More... NCBI chr 2:165,874,554...165,874,753 JBrowse link
G LOC129935047 ATAC-STARR-seq lymphoblastoid active region 16729 IAGP ClinVar Annotator: match by term: GEFS+, TYPE 7 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18479393 More... NCBI chr 2:165,898,024...165,898,113 JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP ClinVar Annotator: match by term: GEFS+, TYPE 7 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,182,806 		JBrowse link
G SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 IAGP ClinVar Annotator: match by term: GEFS+, TYPE 7 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18479393 More... NCBI chr 2:165,957,418...166,036,400
Ensembl chr 2:165,957,188...166,390,771 		JBrowse link
G SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 IAGP ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 7
ClinVar Annotator: match by term: GEFS+, TYPE 7
ClinVar Annotator: match by term: GEFS+, TYPE 7 | ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 7		 ClinVar PMID:9536098 PMID:10514109 PMID:10852559 PMID:10852560 PMID:14985375 More... NCBI chr 2:166,081,531...166,301,784
Ensembl chr 2:165,957,188...166,390,771 		JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 IAGP ClinVar Annotator: match by term: GEFS+, TYPE 7 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310 		JBrowse link
G SCN3A sodium voltage-gated channel alpha subunit 3 IAGP ClinVar Annotator: match by term: GEFS+, TYPE 7 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:165,087,526...165,204,050
Ensembl chr 2:165,087,526...165,204,050 		JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 IAGP ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 7
ClinVar Annotator: match by term: GEFS+, TYPE 7
ClinVar Annotator: match by term: GEFS+, TYPE 7 | ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 7		 ClinVar PMID:9536098 PMID:10514109 PMID:10852559 PMID:10852560 PMID:14985375 More... NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001 		JBrowse link
G TTC21B tetratricopeptide repeat domain 21B IAGP ClinVar Annotator: match by term: GEFS+, TYPE 7 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:165,873,362...165,953,776
Ensembl chr 2:165,857,475...165,953,851 		JBrowse link
G TTC21B-AS1 TTC21B antisense RNA 1 IAGP ClinVar Annotator: match by term: GEFS+, TYPE 7 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18479393 More... NCBI chr 2:165,933,857...165,948,321
Ensembl chr 2:165,933,749...165,949,891 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97419
    disease of anatomical entity 91051
      nervous system disease 53072
        central nervous system disease 38436
          brain disease 36139
            epilepsy 4086
              Febrile Seizures 101
                generalized epilepsy with febrile seizures plus 46
                  generalized epilepsy with febrile seizures plus 7 19
Path 2
Term Annotations click to browse term
  disease 97419
    disease of anatomical entity 91051
      nervous system disease 53072
        central nervous system disease 38436
          brain disease 36139
            epilepsy 4086
              Generalized Epilepsy 581
                idiopathic generalized epilepsy 358
                  generalized epilepsy with febrile seizures plus 46
                    generalized epilepsy with febrile seizures plus 7 19
paths to the root