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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: MIM: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 Akt1s1 AKT1 substrate 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004624832:4,454,257...4,461,603
Ensembl chrNW_004624832:4,454,309...4,461,603 		JBrowse link
G Aldh16a1 aldehyde dehydrogenase 16 family member A1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004624832:4,740,504...4,757,577
Ensembl chrNW_004624832:4,742,264...4,757,485 		JBrowse link
G Ankef1 ankyrin repeat and EF-hand domain containing 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 		ClinVar PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More... NCBI chrNW_004624741:10,986,274...11,009,810
Ensembl chrNW_004624741:10,986,283...11,010,046 		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_004624832:4,513,977...4,540,080
Ensembl chrNW_004624832:4,513,977...4,540,277 		JBrowse link
G Bcl2l12 BCL2 like 12 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004624832:4,605,765...4,611,392
Ensembl chrNW_004624832:4,605,821...4,611,366 		JBrowse link
G Cd37 CD37 molecule ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004624832:4,837,247...4,842,126
Ensembl chrNW_004624832:4,837,247...4,841,756 		JBrowse link
G Cpt1c carnitine palmitoyltransferase 1C ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004624832:4,578,400...4,592,933
Ensembl chrNW_004624832:4,577,620...4,591,550 		JBrowse link
G CUNH19orf73 chromosome unknown C19orf73 homolog ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004624832:4,964,967...4,965,486 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_004624832:4,816,383...4,820,082
Ensembl chrNW_004624832:4,816,277...4,819,740 		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_004624832:4,710,024...4,718,997
Ensembl chrNW_004624832:4,709,083...4,719,152 		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_004624832:4,733,820...4,739,214 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_004624832:4,509,118...4,514,180
Ensembl chrNW_004624832:4,509,505...4,514,183 		JBrowse link
G Hao1 hydroxyacid oxidase 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 		ClinVar PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More... NCBI chrNW_004624741:8,762,556...8,824,517
Ensembl chrNW_004624741:8,763,496...8,824,468 		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_004624832:4,938,074...4,941,578 JBrowse link
G Il4i1 interleukin 4 induced 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004624832:4,404,818...4,444,551
Ensembl chrNW_004624832:4,431,903...4,444,651 		JBrowse link
G Irf3 interferon regulatory factor 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004624832:4,611,445...4,616,319
Ensembl chrNW_004624832:4,612,374...4,616,276 		JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 		ClinVar PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More... NCBI chrNW_004624741:11,647,723...11,683,137
Ensembl chrNW_004624741:11,647,463...11,683,488 		JBrowse link
G Kash5 KASH domain containing 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004624832:4,783,593...4,806,025
Ensembl chrNW_004624832:4,783,766...4,803,325 		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_004624832:4,996,088...5,003,296
Ensembl chrNW_004624832:4,996,088...5,004,041 		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:26467025 PMID:28492532 More... NCBI chrNW_004624734:37,990,840...38,387,580
Ensembl chrNW_004624734:37,990,890...38,381,306 		JBrowse link
G Lamp5 lysosomal associated membrane protein family member 5 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 		ClinVar PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More... NCBI chrNW_004624741:10,454,012...10,468,662
Ensembl chrNW_004624741:10,453,982...10,468,969 		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_004624832:4,965,537...4,968,574
Ensembl chrNW_004624832:4,965,537...4,968,516 		JBrowse link
G Med25 mediator complex subunit 25 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:27066586 PMID:27232581 PMID:28492532 NCBI chrNW_004624832:4,483,599...4,503,937
Ensembl chrNW_004624832:4,484,359...4,503,863 		JBrowse link
G Mkks MKKS centrosomal shuttling protein ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 		ClinVar PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More... NCBI chrNW_004624741:11,323,935...11,447,669
Ensembl chrNW_004624741:11,425,368...11,435,706 		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_004624832:4,674,778...4,691,084
Ensembl chrNW_004624832:4,674,724...4,693,258 		JBrowse link
G Ntf4 neurotrophin 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004624832:5,005,935...5,008,694
Ensembl chrNW_004624832:5,007,801...5,008,451 		JBrowse link
G Nup62 nucleoporin 62 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004624832:4,404,367...4,428,231
Ensembl chrNW_004624832:4,404,245...4,428,231 		JBrowse link
G Pak5 p21 (RAC1) activated kinase 5 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 		ClinVar PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More... NCBI chrNW_004624741:10,476,172...10,823,164
Ensembl chrNW_004624741:10,476,192...10,608,745 		JBrowse link
G Pih1d1 PIH1 domain containing 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004624832:4,757,367...4,761,974
Ensembl chrNW_004624832:4,757,344...4,762,181 		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:10213047 PMID:11180599 PMID:16199547 More... NCBI chrNW_004624741:9,030,817...9,859,597
Ensembl chrNW_004624741:9,031,204...9,856,556 		JBrowse link
G Plcb4 phospholipase C beta 4 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 		ClinVar PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More... NCBI chrNW_004624741:10,047,899...10,435,088
Ensembl chrNW_004624741:10,277,805...10,430,327 		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_004624832:4,462,675...4,467,676
Ensembl chrNW_004624832:4,462,766...4,467,616 		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_004624832:4,941,760...4,964,615
Ensembl chrNW_004624832:4,941,766...4,964,602 		JBrowse link
G Prmt1 protein arginine methyltransferase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004624832:4,593,594...4,602,514
Ensembl chrNW_004624832:4,589,743...4,602,402 		JBrowse link
G Prr12 proline rich 12 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004624832:4,641,028...4,667,437
Ensembl chrNW_004624832:4,642,004...4,665,824 		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_004624832:4,667,957...4,674,949
Ensembl chrNW_004624832:4,667,957...4,674,386 		JBrowse link
G Pth2 parathyroid hormone 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004624832:4,780,150...4,781,340
Ensembl chrNW_004624832:4,779,506...4,781,270 		JBrowse link
G Ptov1 PTOV1 extended AT-hook containing adaptor protein ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:27066586 PMID:27232581 PMID:28492532 NCBI chrNW_004624832:4,468,427...4,476,805
Ensembl chrNW_004624832:4,468,426...4,476,721 		JBrowse link
G Rcn3 reticulocalbin 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004624832:4,699,294...4,709,188
Ensembl chrNW_004624832:4,699,299...4,709,150 		JBrowse link
G Rpl13a ribosomal protein L13a ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004624832:4,728,298...4,732,397
Ensembl chrNW_004624832:4,727,899...4,732,367 		JBrowse link
G Rps11 ribosomal protein S11 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004624832:4,724,620...4,726,593
Ensembl chrNW_004624832:4,723,136...4,726,483 		JBrowse link
G Rras RAS related ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004624832:4,632,812...4,637,938
Ensembl chrNW_004624832:4,633,326...4,637,938 		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_004624832:4,617,209...4,631,807
Ensembl chrNW_004624832:4,617,447...4,629,183 		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_004624832:4,765,233...4,775,515
Ensembl chrNW_004624832:4,765,212...4,775,515 		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_004624832:4,839,014...4,868,987 JBrowse link
G Slx4ip SLX4 interacting protein ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 		ClinVar PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More... NCBI chrNW_004624741:11,447,398...11,638,083
Ensembl chrNW_004624741:11,463,963...11,633,632 		JBrowse link
G Snap25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 		ClinVar PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More... NCBI chrNW_004624741:11,218,259...11,303,406
Ensembl chrNW_004624741:11,274,490...11,302,813 		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_004624832:4,973,251...4,988,679 JBrowse link
G Tbc1d17 TBC1 domain family member 17 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chrNW_004624832:4,444,940...4,454,153
Ensembl chrNW_004624832:4,444,682...4,453,964 		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_004624832:4,821,697...4,837,257 JBrowse link
G Tmx4 thioredoxin related transmembrane protein 4 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 		ClinVar PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More... NCBI chrNW_004624741:8,859,530...8,908,404
Ensembl chrNW_004624741:8,863,533...8,908,185 		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_004624832:4,902,335...4,937,806
Ensembl chrNW_004624832:4,902,659...4,936,926 		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_004624832:4,546,999...4,561,777
Ensembl chrNW_004624832:4,546,432...4,560,970 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14234
    syndrome 9756
      electroclinical syndrome 1384
        developmental and epileptic encephalopathy 1024
          developmental and epileptic encephalopathy 12 53
Path 2
Term Annotations click to browse term
  disease 14234
    disease of anatomical entity 13936
      nervous system disease 12272
        central nervous system disease 11004
          brain disease 10320
            epilepsy 2700
              electroclinical syndrome 1384
                neonatal period electroclinical syndrome 1002
                  early infantile epileptic encephalopathy 982
                    developmental and epileptic encephalopathy 12 53
paths to the root