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
Accession: DOID:0080459
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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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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
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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
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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
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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 PMID:24684524 PMID:28492532 PMID:32733715 More...
NCBI chr20:9,980,794...10,002,580
Ensembl chr20:9,981,431...10,002,265
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:24684524 PMID:28492532 PMID:32733715 More...
NCBI chr20:7,856,967...7,914,818
Ensembl chr20:7,633,861...7,695,120
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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
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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
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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
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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 PMID:24684524 PMID:28492532 PMID:32733715 More...
NCBI chr20:10,582,234...10,618,507
Ensembl chr20:10,582,094...10,618,383
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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
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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
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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 PMID:31440721 PMID:32725632 PMID:34136434 PMID:35874597 PMID:36307226 PMID:38008000 More...
NCBI chr14:43,297,114...43,633,275
Ensembl chr14:61,560,600...61,889,137
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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 PMID:24684524 PMID:28492532 PMID:32733715 More...
NCBI chr20:9,487,971...9,503,912
Ensembl chr20:9,489,849...9,506,137
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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
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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
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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
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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 PMID:24684524 PMID:28492532 PMID:32733715 More...
NCBI chr20:10,346,252...10,380,180
Ensembl chr20:10,351,309...10,366,863
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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
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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
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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
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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 PMID:24684524 PMID:28492532 PMID:32733715 More...
NCBI chr20:9,510,789...9,812,689
Ensembl chr20:9,513,009...9,619,750
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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
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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 PMID:16575836 PMID:17576681 PMID:18414213 PMID:19058200 PMID:20833646 PMID:22382802 PMID:22690784 PMID:24684524 PMID:24747189 PMID:25640679 PMID:25741868 PMID:25950944 PMID:26467025 PMID:26818157 PMID:28492532 PMID:31883110 PMID:32733715 More...
NCBI chr20:8,106,665...8,858,572
Ensembl chr20:7,887,960...8,636,019
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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 PMID:24684524 PMID:28492532 PMID:32733715 More...
NCBI chr20:9,042,127...9,454,207
Ensembl chr20:9,192,061...9,456,443
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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 PMID:15136689 PMID:15381417 PMID:15385968 PMID:15749016 PMID:16199547 PMID:17576681 PMID:18005052 PMID:18266750 PMID:18414213 PMID:18678442 PMID:18845387 PMID:20118933 PMID:20852255 PMID:21307862 PMID:21560189 PMID:22055185 PMID:22508754 PMID:23224214 PMID:23708187 PMID:23833122 PMID:24033266 PMID:24938145 PMID:25558065 PMID:25728773 PMID:25741868 PMID:26467025 PMID:26993267 PMID:27066567 PMID:27066586 PMID:27125728 PMID:27232581 PMID:27890643 PMID:28453785 PMID:28492532 PMID:29056246 PMID:29243230 PMID:29261713 PMID:29498415 PMID:29652299 PMID:29655203 PMID:29720203 PMID:29924869 PMID:30039206 PMID:31041400 PMID:31061747 PMID:31167812 PMID:31436889 PMID:31707899 PMID:32010037 PMID:32056211 PMID:32123317 PMID:32347949 PMID:32504494 PMID:32666581 PMID:32980744 PMID:33332469 PMID:33654647 PMID:34009545 PMID:34040816 PMID:34697416 PMID:35354845 PMID:35426160 PMID:36627765 PMID:37301908 PMID:37916443 More...
NCBI chr19:46,874,216...46,880,954
Ensembl chr19:55,790,048...55,796,762
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:24684524 PMID:28492532 PMID:32733715 More...
NCBI chr20:10,380,226...10,570,766
Ensembl chr20:10,381,239...10,572,296
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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 PMID:24684524 PMID:28492532 PMID:32733715 More...
NCBI chr20:10,164,236...10,252,856
Ensembl chr20:10,218,358...10,252,841
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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
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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
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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
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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 PMID:24684524 PMID:28492532 PMID:32733715 More...
NCBI chr20:7,951,311...7,993,682
Ensembl chr20:7,735,655...7,773,982
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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
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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
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