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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 ADM5 adrenomedullin 5 (putative) ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:46,702,944...46,705,179 JBrowse link
G AKT1S1 AKT1 substrate 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:46,882,073...46,890,404
Ensembl chr19:55,797,927...55,806,256
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 chr19:46,466,683...46,483,567
Ensembl chr19:55,389,095...55,406,684
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 chr20:9,980,794...10,002,580
Ensembl chr20:9,981,431...10,002,265
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 chr19:46,779,196...46,820,055
Ensembl chr19:55,694,070...55,736,570
JBrowse link
G BCL2L12 BCL2 like 12 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:46,679,749...46,688,539 JBrowse link
G C20H19orf73 chromosome 20 C19orf73 homolog ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:46,129,587...46,132,416
Ensembl chr19:55,055,934...55,056,323
JBrowse link
G CD37 CD37 molecule ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:46,349,845...46,355,294
Ensembl chr19:55,273,914...55,279,562
JBrowse link
G CPT1C carnitine palmitoyltransferase 1C ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:46,705,711...46,727,996
Ensembl chr19:55,626,831...55,647,394
JBrowse link
G DKKL1 dickkopf like acrosomal protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:46,375,301...46,389,822
Ensembl chr19:55,301,955...55,313,690
JBrowse link
G FCGRT Fc gamma receptor and transporter ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:46,525,053...46,539,136
Ensembl chr19:55,442,760...55,459,904
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 chr19:46,486,169...46,499,008 JBrowse link
G FUZ fuzzy planar cell polarity protein ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:46,819,833...46,826,235
Ensembl chr19:55,736,325...55,742,589
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 chr20:7,856,967...7,914,818
Ensembl chr20:7,633,861...7,695,120
JBrowse link
G HRC histidine rich calcium binding protein ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:46,162,231...46,166,606
Ensembl chr19:55,089,384...55,093,463
JBrowse link
G IL4I1 interleukin 4 induced 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:46,902,656...46,942,213
Ensembl chr19:55,819,080...55,858,389
JBrowse link
G IRF3 interferon regulatory factor 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:46,674,193...46,680,464
Ensembl chr19:55,593,627...55,599,903
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 chr20:10,582,234...10,618,507
Ensembl chr20:10,582,094...10,618,383
JBrowse link
G KASH5 KASH domain containing 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:46,402,586...46,432,002
Ensembl chr19:55,325,640...55,353,721
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 chr19:46,077,423...46,083,245 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 chr14:43,297,114...43,633,275
Ensembl chr14:61,560,600...61,889,137
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 chr20:9,487,971...9,503,912
Ensembl chr20:9,489,849...9,506,137
JBrowse link
G LHB luteinizing hormone subunit beta ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:46,017,880...46,021,395
Ensembl chr19:54,738,139...54,739,424
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 chr19:46,125,272...46,129,450
Ensembl chr19:55,047,704...55,055,761
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 chr19:46,831,190...46,853,367
Ensembl chr19:55,747,722...55,765,942
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 chr20:10,346,252...10,380,180
Ensembl chr20:10,351,309...10,366,863
JBrowse link
G NOSIP nitric oxide synthase interacting protein ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:46,571,397...46,595,570
Ensembl chr19:55,491,410...55,515,691
JBrowse link
G NTF4 neurotrophin 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 Ensembl chr19:54,995,009...54,995,641 JBrowse link
G NUP62 nucleoporin 62 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:46,919,731...46,942,318 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 chr20:9,510,789...9,812,689
Ensembl chr20:9,513,009...9,619,750
JBrowse link
G PIH1D1 PIH1 domain containing 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:46,459,855...46,465,882
Ensembl chr19:55,381,803...55,387,664
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 chr20:8,106,665...8,858,572
Ensembl chr20:7,887,960...8,636,019
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 chr20:9,042,127...9,454,207
Ensembl chr20:9,192,061...9,456,443
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 chr19:46,874,216...46,880,954
Ensembl chr19:55,790,048...55,796,762
JBrowse link
G PPFIA3 PTPRF interacting protein alpha 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:46,130,396...46,162,065
Ensembl chr19:55,056,824...55,089,124
JBrowse link
G PRMT1 protein arginine methyltransferase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:46,691,795...46,705,179
Ensembl chr19:55,610,938...55,623,135
JBrowse link
G PRR12 proline rich 12 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:46,606,145...46,641,034
Ensembl chr19:55,526,115...55,559,998
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 chr19:46,595,628...46,605,897
Ensembl chr19:55,516,413...55,525,229
JBrowse link
G PTH2 parathyroid hormone 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:46,435,293...46,437,104 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 chr19:46,863,575...46,874,494
Ensembl chr19:55,779,915...55,789,585
JBrowse link
G RCN3 reticulocalbin 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:46,540,352...46,556,508
Ensembl chr19:55,463,535...55,477,478
JBrowse link
G RPL13A ribosomal protein L13a ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:46,485,729...46,504,928
Ensembl chr19:55,423,866...55,428,598
JBrowse link
G RPS11 ribosomal protein S11 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:46,508,942...46,512,312
Ensembl chr19:55,432,486...55,435,808
JBrowse link
G RRAS RAS related ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:46,649,892...46,654,754
Ensembl chr19:55,569,749...55,573,721
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 chr19:46,656,715...46,673,264
Ensembl chr19:55,578,644...55,592,455
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 chr19:46,443,076...46,455,195
Ensembl chr19:55,365,811...55,377,438
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 chr19:46,303,921...46,354,944
Ensembl chr19:55,228,680...55,270,789
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 chr20:10,380,226...10,570,766
Ensembl chr20:10,381,239...10,572,296
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 chr20:10,164,236...10,252,856
Ensembl chr20:10,218,358...10,252,841
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 chr19:46,094,679...46,118,022
Ensembl chr19:55,021,402...55,046,281
JBrowse link
G TBC1D17 TBC1 domain family member 17 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:46,890,557...46,901,761
Ensembl chr19:55,806,294...55,820,195
JBrowse link
G TEAD2 TEA domain transcription factor 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:46,355,283...46,377,224
Ensembl chr19:55,280,287...55,299,341
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 chr20:7,951,311...7,993,682
Ensembl chr20:7,735,655...7,773,982
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 chr19:46,168,301...46,224,726
Ensembl chr19:55,095,029...55,150,464
JBrowse link
G TSKS testis specific serine kinase substrate ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:46,753,614...46,776,505
Ensembl chr19:55,672,894...55,694,031
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15832
    syndrome 10703
      electroclinical syndrome 1525
        developmental and epileptic encephalopathy 1144
          developmental and epileptic encephalopathy 12 55
Path 2
Term Annotations click to browse term
  disease 15832
    disease of anatomical entity 15489
      nervous system disease 13586
        central nervous system disease 12149
          brain disease 11415
            epilepsy 2933
              electroclinical syndrome 1525
                neonatal period electroclinical syndrome 1115
                  early infantile epileptic encephalopathy 1094
                    developmental and epileptic encephalopathy 12 55
paths to the root