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Browse result for Developmental and epileptic encephalopathy

※ introduction

    An electroclinical syndrome characterized by epileptiform activity and at least one other pathology that together contribute to cognitive and behavioral impairments including developmental delay or regression with onset anywhere from birth to adulthood.

Reference
DiseaseOntology: Developmental and epileptic encephalopathy


PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD00590P409254190
MDH1
Malate dehydrogenase, cytoplasmic
Homo sapiens
PTMD00591P409264191
MDH2
Malate dehydrogenase, mitochondrial
Homo sapiens
PTMD00686Q146838243
SMC1A
Structural maintenance of chromosomes protein 1A
Homo sapiens
PTMD01433O607017358
UGDH
UDP-glucose 6-dehydrogenase
Homo sapiens
PTMD01459P005052806
GOT2
Aspartate aminotransferase, mitochondrial
Homo sapiens
PTMD01577P284722562
GABRB3
Gamma-aminobutyric acid receptor subunit beta-3 receptor subunit beta-3)
Homo sapiens
PTMD01137Q166204915
NTRK2
BDNF/NT-3 growth factors receptor
Homo sapiens
PTMD01914Q9NZC751741
WWOX
WW domain-containing oxidoreductase
Homo sapiens
PTMD02403O146471106
CHD2
Chromodomain-helicase-DNA-binding protein 2
Homo sapiens
PTMD02438O1481010815
CPLX1
Complexin-1
Homo sapiens
PTMD02692O434268867
SYNJ1
Synaptojanin-1
Homo sapiens
PTMD02714O435263785
KCNQ2
Potassium voltage-gated channel subfamily KQT member 2
Homo sapiens
PTMD02724O4356711342
RNF13
E3 ubiquitin-protein ligase RNF13
Homo sapiens
PTMD02850O6030723031
MAST3
Microtubule-associated serine/threonine-protein kinase 3
Homo sapiens
PTMD02935O6074134898
HCN1
Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1
Homo sapiens
PTMD03246O760396792
CDKL5
Cyclin-dependent kinase-like 5
Homo sapiens
PTMD03411O9531910659
CELF2
CUGBP Elav-like family member 2
Homo sapiens
PTMD03928P094712775
GNAO1
Guanine nucleotide-binding protein G subunit alpha
Homo sapiens
PTMD04150P13637478
ATP1A3
Sodium/potassium-transporting ATPase subunit alpha-3 /K ATPase alpha-3 subunit) /K ATPase alpha subunit)
Homo sapiens
PTMD04360P185052560
GABRB1
Gamma-aminobutyric acid receptor subunit beta-1 receptor subunit beta-1)
Homo sapiens
PTMD04829P316442558
GABRA5
Gamma-aminobutyric acid receptor subunit alpha-5 receptor subunit alpha-5)
Homo sapiens
PTMD05177P464594905
NSF
Vesicle-fusing ATPase
Homo sapiens
PTMD05311P4958816
AARS1
Alanine--tRNA ligase, cytoplasmic
Homo sapiens
PTMD05405P50993477
ATP1A2
Sodium/potassium-transporting ATPase subunit alpha-2 /K ATPase alpha-2 subunit)
Homo sapiens
PTMD05696P5705910272
SIK1
Serine/threonine-protein kinase SIK1
Homo sapiens
PTMD05821P617646812
STXBP1
Syntaxin-binding protein 1
Homo sapiens
PTMD05836P619817532
YWHAG
14-3-3 protein gamma [Cleaved into: 14-3-3 protein gamma, N-terminally processed]
Homo sapiens
PTMD06221Q051931759
DNM1
Dynamin-1
Homo sapiens
PTMD06806Q147213745
KCNB1
Potassium voltage-gated channel subfamily B member 1
Homo sapiens
PTMD07179Q168517360
UGP2
UTP--glucose-1-phosphate uridylyltransferase
Homo sapiens
PTMD07620Q5JUK357582
KCNT1
Potassium channel subfamily T member 1
Homo sapiens
PTMD08703Q7L3T825973
PARS2
Probable proline--tRNA ligase, mitochondrial
Homo sapiens
PTMD09065Q86VP323241
PACS2
Phosphofurin acidic cluster sorting protein 2
Homo sapiens
PTMD09202Q86YT528411
SLC13A5
Na/citrate cotransporter
Homo sapiens
PTMD09255Q8IV3628398
HID1
Protein HID1
Homo sapiens
PTMD10227Q8TAB357526
PCDH19
Protocadherin-19
Homo sapiens
PTMD10384Q8TDJ623312
DMXL2
DmX-like protein 2
Homo sapiens
PTMD10716Q925219488
PIGB
GPI mannosyltransferase 3
Homo sapiens
PTMD11794Q992506326
SCN2A
Sodium channel protein type 2 subunit alpha
Homo sapiens
PTMD12081Q9BT0910695
CNPY3
Protein canopy homolog 3
Homo sapiens
PTMD12247Q9BWU123097
CDK19
Cyclin-dependent kinase 19
Homo sapiens
PTMD12472Q9C0D022169
PHACTR1
Phosphatase and actin regulator 1
Homo sapiens
PTMD12548Q9GZZ979876
UBA5
Ubiquitin-like modifier-activating enzyme 5
Homo sapiens
PTMD13204Q9NP7379868
ALG13
UDP-N-acetylglucosamine transferase subunit ALG13
Homo sapiens
PTMD13540Q9NVF723219
FBXO28
F-box only protein 28
Homo sapiens
PTMD14444Q9UM1151343
FZR1
Fizzy-related protein homolog
Homo sapiens
PTMD14582Q9UQD06334
SCN8A
Sodium channel protein type 8 subunit alpha
Homo sapiens