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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:developmental and epileptic encephalopathy 12
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Accession:DOID:0080459 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first year of life with normal to mild developmental delay before onset of seizures but developmental regression and stagnation after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB1 gene on chromosome 20p12.3. (DO)
Synonyms:exact_synonym: DEE12;   EIEE12;   early infantile epileptic encephalopathy 12
 primary_id: OMIM:613722

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developmental and epileptic encephalopathy 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh16a1 aldehyde dehydrogenase 16 family member A1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004955559:1,376,862...1,390,861
Ensembl chrNW_004955559:1,376,977...1,390,841 		JBrowse link
G Ankef1 ankyrin repeat and EF-hand domain containing 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 ClinVar PMID:28492532 PMID:32733715 NCBI chrNW_004955415:19,967,234...19,988,725
Ensembl chrNW_004955415:19,967,234...19,993,481 		JBrowse link
G Ap2a1 adaptor related protein complex 2 subunit alpha 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004955559:1,117,380...1,143,403
Ensembl chrNW_004955559:1,117,636...1,143,409 		JBrowse link
G Bcl2l12 BCL2 like 12 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004955559:1,217,797...1,224,875
Ensembl chrNW_004955559:1,217,809...1,224,875 		JBrowse link
G Cd37 CD37 molecule ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004955559:1,465,937...1,471,249
Ensembl chrNW_004955559:1,465,937...1,471,249 		JBrowse link
G Cpt1c carnitine palmitoyltransferase 1C ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004955559:1,187,858...1,203,523 JBrowse link
G Dkkl1 dickkopf like acrosomal protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004955559:1,445,082...1,449,167
Ensembl chrNW_004955559:1,445,149...1,449,004 		JBrowse link
G Fcgrt Fc gamma receptor and transporter ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004955559:1,320,441...1,331,962
Ensembl chrNW_004955559:1,318,967...1,332,141 		JBrowse link
G Flt3lg fms related receptor tyrosine kinase 3 ligand ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004955559:1,364,056...1,371,245
Ensembl chrNW_004955559:1,365,938...1,370,002 		JBrowse link
G Fuz fuzzy planar cell polarity protein ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004955559:1,112,670...1,117,620
Ensembl chrNW_004955559:1,112,855...1,117,413 		JBrowse link
G Hao1 hydroxyacid oxidase 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 ClinVar PMID:28492532 PMID:32733715 NCBI chrNW_004955415:17,981,791...18,035,151
Ensembl chrNW_004955415:17,981,791...18,035,224 		JBrowse link
G Hrc histidine rich calcium binding protein ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004955559:1,583,661...1,587,457
Ensembl chrNW_004955559:1,583,876...1,587,355 		JBrowse link
G Irf3 interferon regulatory factor 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004955559:1,223,986...1,228,671
Ensembl chrNW_004955559:1,224,874...1,228,624 		JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 ClinVar PMID:28492532 PMID:32733715 NCBI chrNW_004955415:20,490,414...20,526,068
Ensembl chrNW_004955415:20,490,414...20,527,917 		JBrowse link
G Kash5 KASH domain containing 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004955559:1,416,844...1,438,451 JBrowse link
G Kcna7 potassium voltage-gated channel subfamily A member 7 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004955559:1,641,388...1,645,476
Ensembl chrNW_004955559:1,641,388...1,645,546 		JBrowse link
G Kcnh5 potassium voltage-gated channel subfamily H member 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 ClinVar PMID:23647072 PMID:24133262 PMID:25741868 PMID:28492532 PMID:31440721 More... NCBI chrNW_004955466:6,704,431...7,042,727
Ensembl chrNW_004955466:6,704,364...7,040,734 		JBrowse link
G Lamp5 lysosomal associated membrane protein family member 5 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 ClinVar PMID:28492532 PMID:32733715 NCBI chrNW_004955415:19,488,533...19,502,599
Ensembl chrNW_004955415:19,488,527...19,502,640 		JBrowse link
G Lhb luteinizing hormone subunit beta ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004955559:1,656,106...1,657,192 JBrowse link
G Lin7b lin-7 homolog B, crumbs cell polarity complex component ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004955559:1,610,924...1,613,736
Ensembl chrNW_004955559:1,611,004...1,614,320 		JBrowse link
G Med25 mediator complex subunit 25 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004955559:1,085,033...1,102,501
Ensembl chrNW_004955559:1,084,182...1,103,143 		JBrowse link
G Mkks MKKS centrosomal shuttling protein ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 ClinVar PMID:28492532 PMID:32733715 NCBI chrNW_004955415:20,292,311...20,315,850
Ensembl chrNW_004955415:20,292,663...20,300,797 		JBrowse link
G Nosip nitric oxide synthase interacting protein ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004955559:1,287,155...1,300,550
Ensembl chrNW_004955559:1,297,340...1,300,507 		JBrowse link
G Ntf4 neurotrophin 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004955559:1,647,685...1,650,553
Ensembl chrNW_004955559:1,647,685...1,650,553 		JBrowse link
G Pak5 p21 (RAC1) activated kinase 5 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 ClinVar PMID:28492532 PMID:32733715 NCBI chrNW_004955415:19,509,727...19,826,087
Ensembl chrNW_004955415:19,511,822...19,619,663 		JBrowse link
G Pih1d1 PIH1 domain containing 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004955559:1,390,823...1,395,550
Ensembl chrNW_004955559:1,391,314...1,396,329 		JBrowse link
G Plcb1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 OMIM
ClinVar		 PMID:9305844 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chrNW_004955415:18,210,608...18,915,099
Ensembl chrNW_004955415:18,210,662...18,915,158 		JBrowse link
G Plcb4 phospholipase C beta 4 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 ClinVar PMID:28492532 PMID:32733715 NCBI chrNW_004955415:19,108,120...19,462,084
Ensembl chrNW_004955415:19,310,917...19,463,098 		JBrowse link
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 ClinVar PMID:9536098 PMID:10446192 PMID:10446193 PMID:11112660 PMID:11704758 More... NCBI chrNW_004955559:1,064,924...1,070,120 JBrowse link
G Ppfia3 PTPRF interacting protein alpha 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004955559:1,587,633...1,610,065
Ensembl chrNW_004955559:1,587,638...1,610,064 		JBrowse link
G Prmt1 protein arginine methyltransferase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004955559:1,205,340...1,215,672
Ensembl chrNW_004955559:1,203,283...1,215,021 		JBrowse link
G Prr12 proline rich 12 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004955559:1,253,216...1,279,414
Ensembl chrNW_004955559:1,253,216...1,279,414 		JBrowse link
G Prrg2 proline rich and Gla domain 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004955559:1,279,601...1,287,182
Ensembl chrNW_004955559:1,280,192...1,285,734 		JBrowse link
G Pth2 parathyroid hormone 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004955559:1,409,966...1,414,881
Ensembl chrNW_004955559:1,412,489...1,414,881 		JBrowse link
G Ptov1 PTOV1 extended AT-hook containing adaptor protein ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004955559:1,070,856...1,079,052
Ensembl chrNW_004955559:1,069,481...1,078,735 		JBrowse link
G Rcn3 reticulocalbin 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004955559:1,309,621...1,319,925
Ensembl chrNW_004955559:1,309,621...1,319,925 		JBrowse link
G Rpl13a ribosomal protein L13a ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004955559:1,358,479...1,362,663
Ensembl chrNW_004955559:1,358,486...1,362,663 		JBrowse link
G Rps11 ribosomal protein S11 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004955559:1,354,540...1,356,509
Ensembl chrNW_004955559:1,354,540...1,356,509 		JBrowse link
G Rras RAS related ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004955559:1,244,658...1,248,774
Ensembl chrNW_004955559:1,244,658...1,248,774 		JBrowse link
G Scaf1 SR-related CTD associated factor 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004955559:1,229,479...1,234,563 JBrowse link
G Slc17a7 solute carrier family 17 member 7 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004955559:1,399,182...1,409,074
Ensembl chrNW_004955559:1,399,182...1,409,134 		JBrowse link
G Slc6a16 solute carrier family 6 member 16 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004955559:1,493,030...1,509,213 JBrowse link
G Slx4ip SLX4 interacting protein ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 ClinVar PMID:28492532 PMID:32733715 NCBI chrNW_004955415:20,316,664...20,478,786
Ensembl chrNW_004955415:20,394,192...20,481,249 		JBrowse link
G Snap25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 ClinVar PMID:28492532 PMID:32733715 NCBI chrNW_004955415:20,133,361...20,218,840
Ensembl chrNW_004955415:20,133,201...20,219,023 		JBrowse link
G Snrnp70 small nuclear ribonucleoprotein U1 subunit 70 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004955559:1,618,246...1,634,144
Ensembl chrNW_004955559:1,614,039...1,634,142 		JBrowse link
G Tead2 TEA domain transcription factor 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004955559:1,450,706...1,465,947
Ensembl chrNW_004955559:1,450,706...1,465,947 		JBrowse link
G Tmx4 thioredoxin related transmembrane protein 4 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 ClinVar PMID:28492532 PMID:32733715 NCBI chrNW_004955415:18,055,257...18,100,705
Ensembl chrNW_004955415:18,054,323...18,101,446 		JBrowse link
G Trpm4 transient receptor potential cation channel subfamily M member 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004955559:1,539,036...1,581,800
Ensembl chrNW_004955559:1,546,365...1,581,712 		JBrowse link
G Tsks testis specific serine kinase substrate ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004955559:1,151,247...1,162,856
Ensembl chrNW_004955559:1,151,247...1,162,765 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    syndrome 9329
      electroclinical syndrome 1237
        developmental and epileptic encephalopathy 892
          developmental and epileptic encephalopathy 12 49
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        central nervous system disease 10855
          brain disease 10186
            epilepsy 2595
              electroclinical syndrome 1237
                neonatal period electroclinical syndrome 868
                  early infantile epileptic encephalopathy 848
                    developmental and epileptic encephalopathy 12 49
paths to the root