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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:early myoclonic encephalopathy
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Accession:DOID:308 term browser browse the term
Synonyms:exact_synonym: Early Childhood Epilepsy, Myoclonic;   Epileptic seizures, myoclonic;   Infantile Myoclonic Epilepsies;   Infantile Myoclonic Epilepsy;   Infantile Severe Myoclonic Epilepsy;   benign infantile myoclonic epilepsy
 narrow_synonym: Epilepsy, generalized myoclonic, with photosensitivity
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
early myoclonic encephalopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCNF cyclin F ISO ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile ClinVar PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 More... NCBI chr 6:38,572,883...38,592,465
Ensembl chr 6:38,574,234...38,592,435 		JBrowse link
G DICER1 dicer 1, ribonuclease III ISO ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile ClinVar PMID:25022261 PMID:25326637 PMID:25741868 NCBI chr 8:63,970,245...64,029,438
Ensembl chr 8:63,972,027...64,019,879 		JBrowse link
G DIRAS1 DIRAS family GTPase 1 IAGP Epilepsy, generalized myoclonic, with photosensitivity OMIA PMID:28223533 PMID:29194766 NCBI chr20:56,469,283...56,477,314
Ensembl chr20:56,474,105...56,474,701 		JBrowse link
G EGR2 early growth response 2 ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy ClinVar PMID:28492532 NCBI chr 4:14,705,384...14,810,130
Ensembl chr 4:14,706,600...14,709,497 		JBrowse link
G JMJD1C jumonji domain containing 1C ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe		 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:22495311 PMID:25741868 More... NCBI chr 4:15,006,670...15,261,139
Ensembl chr 4:15,007,508...15,261,691 		JBrowse link
G KCND2 potassium voltage-gated channel subfamily D member 2 ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy
ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe		 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19171772 PMID:24501278 More... NCBI chr14:58,441,274...58,915,512 JBrowse link
G LOC610636 tubulin alpha-1B chain ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy ClinVar PMID:25741868 PMID:28492532 PMID:30744660 PMID:31833200 NCBI chr37:25,811,491...25,818,838 JBrowse link
G NRBF2 nuclear receptor binding factor 2 ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy ClinVar PMID:28492532 NCBI chr 4:14,958,142...14,991,146
Ensembl chr 4:14,958,226...14,990,325 		JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe		 ClinVar PMID:1893099 PMID:9536098 PMID:9573403 PMID:10486327 PMID:10521305 More... NCBI chr36:11,105,936...11,245,978
Ensembl chr36:11,108,050...11,183,496 		JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe ClinVar PMID:19763161 PMID:21698661 PMID:22136189 PMID:23280954 PMID:23895530 More... NCBI chr36:11,287,358...11,382,897
Ensembl chr36:11,290,625...11,383,255 		JBrowse link
G SLC25A22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy ClinVar PMID:15592994 PMID:18414213 PMID:19780765 PMID:25033742 PMID:25741868 More...
G SNX27 sorting nexin 27 ISO ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe ClinVar PMID:25741868 PMID:28492532 NCBI chr17:60,653,719...60,727,928
Ensembl chr17:60,653,732...60,724,253 		JBrowse link
G TBC1D24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile ClinVar PMID:18414213 PMID:22277662 PMID:24033266 PMID:24291220 PMID:24848745 More... NCBI chr 6:38,531,547...38,557,472 JBrowse link
G TSPAN12 tetraspanin 12 ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy ClinVar PMID:28492532 NCBI chr14:58,941,658...59,005,507
Ensembl chr14:58,941,551...59,005,463 		JBrowse link
developmental and epileptic encephalopathy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC25A22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 3 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 3 OMIM
ClinVar		 PMID:15592994 PMID:18414213 PMID:19780765 PMID:24596948 PMID:25033742 More...
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    syndrome 10064
      electroclinical syndrome 1337
        neonatal period electroclinical syndrome 951
          early myoclonic encephalopathy 14
            developmental and epileptic encephalopathy 3 1
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      nervous system disease 13207
        central nervous system disease 11844
          brain disease 11124
            movement disease 2494
              Dyskinesias 2123
                Myoclonus 378
                  Myoclonic Epilepsies 372
                    early myoclonic encephalopathy 14
                      developmental and epileptic encephalopathy 3 1
paths to the root