Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Behavioral & Substance Use Disorder Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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:developmental and epileptic encephalopathy 31A
go back to main search page
Accession:DOID:0080437 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures and global developmental delay from early infancy that has_material_basis_in heterozygous mutation in the DNM1 gene on chromosome 9q34. (DO)
Synonyms:exact_synonym: DEE31;   DEE31A;   EIEE31;   developmental and epileptic encephalopathy 31;   developmental and epileptic encephalopathy 31A, autosomal dominant;   early infantile epileptic encephalopathy 31
 primary_id: MIM:616346
 xref: MONDO:0014598;   NCI:C185237


show annotations for term's descendants           Sort by:
developmental and epileptic encephalopathy 31A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak1 adenylate kinase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31A ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:36,310,113...36,320,760
Ensembl chr 3:36,310,197...36,320,757 		JBrowse link
G Angptl2 angiopoietin-like 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31A ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:36,914,876...36,944,715
Ensembl chr 3:36,914,745...36,945,876 		JBrowse link
G Bbln bublin coiled coil protein ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31A ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:15,674,577...15,677,322
Ensembl chr 3:36,072,328...36,075,093 		JBrowse link
G Cdk9 cyclin-dependent kinase 9 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31A ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:36,394,168...36,399,016
Ensembl chr 3:36,394,169...36,399,528 		JBrowse link
G Cercam cerebral endothelial cell adhesion molecule ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31A ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:33,515,513...33,553,817
Ensembl chr 3:33,486,664...33,553,813 		JBrowse link
G Cfap157 cilia and flagella associated protein 157 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31A ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:16,066,521...16,073,504
Ensembl chr 3:36,464,219...36,471,193 		JBrowse link
G Ciz1 CDKN1A interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31A ClinVar PMID:8335685 PMID:10608808 PMID:11031245 PMID:11553700 PMID:18469812 More... NCBI chr 3:36,055,753...36,071,510
Ensembl chr 3:36,056,370...36,075,192 		JBrowse link
G Coq4 coenzyme Q4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31A ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:13,060,054...13,070,502
Ensembl chr 3:33,457,596...33,468,379 		JBrowse link
G Dnm1 dynamin 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31A OMIM
ClinVar		 PMID:8335685 PMID:9536098 PMID:10608808 PMID:11031245 PMID:11553700 More... NCBI chr 3:36,002,535...36,055,220
Ensembl chr 3:36,002,064...36,046,289 		JBrowse link
G Dpm2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31A ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:15,855,952...15,858,867 JBrowse link
G Eeig1 estrogen-induced osteoclastogenesis regulator 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31A ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:36,220,170...36,252,377
Ensembl chr 3:36,211,730...36,252,378 		JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31A ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:36,332,190...36,370,324
Ensembl chr 3:36,326,202...36,370,933 		JBrowse link
G Fpgs folylpolyglutamate synthase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31A ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:36,370,505...36,391,314
Ensembl chr 3:36,370,300...36,391,068 		JBrowse link
G Garnl3 GTPase activating Rap/RanGAP domain-like 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31A ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:16,288,718...16,432,308
Ensembl chr 3:36,686,389...36,830,020 		JBrowse link
G Gle1 GLE1 RNA export mediator ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31A ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:33,607,160...33,638,879 JBrowse link
G Golga2 golgin A2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31A ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:35,981,783...36,002,023
Ensembl chr 3:35,981,499...36,002,022 		JBrowse link
G Lcn2 lipocalin 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31A ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:36,078,432...36,081,851
Ensembl chr 3:36,078,436...36,081,842 		JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31A ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:16,862,195...16,940,899
Ensembl chr 3:37,259,855...37,338,557 		JBrowse link
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31A ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:36,621,042...36,661,932
Ensembl chr 3:36,621,042...36,661,825 		JBrowse link
G Mbd5 methyl-CpG binding domain protein 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31A ClinVar PMID:25741868 NCBI chr 3:33,588,854...33,738,730
Ensembl chr 3:54,075,084...54,139,389 		JBrowse link
G Naif1 nuclear apoptosis inducing factor 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31A ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:15,741,239...15,747,672
Ensembl chr 3:36,138,982...36,145,414 		JBrowse link
G Niban2 niban apoptosis regulator 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31A ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:36,572,356...36,621,968
Ensembl chr 3:36,572,377...36,621,967 		JBrowse link
G Odf2 outer dense fiber of sperm tails 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31A ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:13,160,981...13,207,223
Ensembl chr 3:33,558,832...33,605,076 		JBrowse link
G Pip5kl1 phosphatidylinositol-4-phosphate 5-kinase-like 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31A ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:15,860,493...15,869,264
Ensembl chr 3:36,258,102...36,266,888 		JBrowse link
G Ptges2 prostaglandin E synthase 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31A ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:36,088,246...36,095,430
Ensembl chr 3:36,088,246...36,097,694 		JBrowse link
G Ptrh1 peptidyl-tRNA hydrolase 1 homolog ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31A ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:16,064,867...16,071,098
Ensembl chr 3:36,462,575...36,476,139 		JBrowse link
G Ralgps1 Ral GEF with PH domain and SH3 binding motif 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31A ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:36,831,029...37,067,659
Ensembl chr 3:36,831,029...37,067,659 		JBrowse link
G Rpl12 ribosomal protein L12 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31A ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:36,661,940...36,664,314
Ensembl chr 3:36,661,939...36,664,306 		JBrowse link
G Sh2d3c SH2 domain containing 3C ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31A ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:36,408,305...36,444,191
Ensembl chr 3:36,408,304...36,444,716 		JBrowse link
G Slc25a25 solute carrier family 25 member 25 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31A ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:36,106,448...36,139,812
Ensembl chr 3:36,106,449...36,140,011 		JBrowse link
G Slc27a4 solute carrier family 27 member 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31A ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:13,075,022...13,087,943
Ensembl chr 3:33,472,903...33,485,824 		JBrowse link
G Slc2a8 solute carrier family 2 member 8 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31A ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:16,274,918...16,284,536
Ensembl chr 3:36,672,591...36,682,194 		JBrowse link
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31A ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:33,639,020...33,703,890
Ensembl chr 3:33,607,210...33,703,889 		JBrowse link
G St6galnac4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31A ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:15,872,230...15,885,250
Ensembl chr 3:36,269,878...36,282,971 		JBrowse link
G St6galnac6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31A ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:15,894,275...15,907,502
Ensembl chr 3:36,283,629...36,305,216 		JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31A ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:36,474,428...36,536,120
Ensembl chr 3:36,474,428...36,536,058 		JBrowse link
G Swi5 SWI5 homologous recombination repair protein ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31A ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:35,972,436...35,981,658
Ensembl chr 3:35,972,436...35,981,554 		JBrowse link
G Tor2a torsin family 2, member A ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31A ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:16,048,591...16,053,198
Ensembl chr 3:36,446,273...36,450,908 		JBrowse link
G Trub2 TruB pseudouridine synthase family member 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31A ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:33,447,101...33,457,712
Ensembl chr 3:33,431,628...33,457,726 		JBrowse link
G Ttc16 tetratricopeptide repeat domain 16 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31A ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:36,450,271...36,462,590
Ensembl chr 3:36,446,272...36,462,368 		JBrowse link
G Urm1 ubiquitin related modifier 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31A ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:13,100,340...13,117,064
Ensembl chr 3:33,489,892...33,516,715 		JBrowse link
G Zbtb34 zinc finger and BTB domain containing 34 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31A ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:37,101,033...37,123,758
Ensembl chr 3:37,100,137...37,141,027 		JBrowse link
G Zbtb43 zinc finger and BTB domain containing 43 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31A ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:37,142,210...37,161,524
Ensembl chr 3:37,141,354...37,162,238 		JBrowse link
G Zfp35 zinc finger protein 35 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31A ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr18:15,543,604...15,559,084
Ensembl chr18:15,543,516...15,559,837 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      electroclinical syndrome 1524
        developmental and epileptic encephalopathy 1145
          developmental and epileptic encephalopathy 31A 44
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            epilepsy 2950
              electroclinical syndrome 1524
                neonatal period electroclinical syndrome 843
                  early infantile epileptic encephalopathy 820
                    developmental and epileptic encephalopathy 31A 44
paths to the root