Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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:Childhood Absence Epilepsy 1
go back to main search page
Accession:DOID:9009060 term browser browse the term
Synonyms:exact_synonym: ECA1
 related_synonym: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 1
 primary_id: OMIM:600131
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Childhood Absence Epilepsy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP10A ATPase phospholipid transporting 10A (putative) ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 1 ClinVar PMID:11198279, PMID:28492532 NCBI chr15:4,064,605...4,262,695
Ensembl chr15:23,090,927...23,275,674
JBrowse link
G GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 1 ClinVar PMID:11198279, PMID:28492532 NCBI chr15:2,953,857...3,036,722
Ensembl chr15:24,300,300...24,382,730
JBrowse link
G GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 1
ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 1
ClinVar PMID:2828157, PMID:11198279, PMID:11742254, PMID:12189488, PMID:18514161, PMID:19935738, PMID:20550555, PMID:23495136, PMID:23934111, PMID:24999380, PMID:25533962, PMID:25726841, PMID:25741868, PMID:26068938, PMID:26467025, PMID:26645412, PMID:26704558, PMID:26845707, PMID:26950270, PMID:26993267, PMID:27476654, PMID:27622563, PMID:28053010, PMID:28281572, PMID:28492532, PMID:28544625, PMID:28607477, PMID:29961870 NCBI chr15:3,129,481...3,357,495
Ensembl chr15:23,981,359...24,058,357
JBrowse link
G RORB RAR related orphan receptor B ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 1 ClinVar PMID:25950944 NCBI chr 9:50,144,836...50,340,910
Ensembl chr 9:73,469,767...73,543,030
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12752
    syndrome 6179
      electroclinical syndrome 375
        absence epilepsy 97
          childhood electroclinical syndrome 65
            childhood absence epilepsy 29
              Childhood Absence Epilepsy 1 4
Path 2
Term Annotations click to browse term
  disease 12752
    disease of anatomical entity 12282
      nervous system disease 10043
        central nervous system disease 8492
          brain disease 7871
            epilepsy 1468
              electroclinical syndrome 375
                absence epilepsy 97
                  childhood electroclinical syndrome 65
                    childhood absence epilepsy 29
                      Childhood Absence Epilepsy 1 4
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.