variable age at onset electroclinical syndrome Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
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Genes

181 genes co-occuring with the disease variable age at onset electroclinical syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) 3.19622
NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 3.03376
CSTB cystatin B (stefin B) 2.79788
PFKL phosphofructokinase, liver 1.72319
ITGA2 integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) 1.69405
CAPN1 calpain 1, (mu/I) large subunit 1.66735
PARK2 parkin RBR E3 ubiquitin protein ligase 1.60949
PRICKLE1 prickle homolog 1 (Drosophila) 1.51237
PPP1R3C protein phosphatase 1, regulatory subunit 3C 1.39171
CPSF4 cleavage and polyadenylation specific factor 4, 30kDa 1.36161
PDCL phosducin-like 1.29003
DMGDH dimethylglycine dehydrogenase 1.27432
GARS glycyl-tRNA synthetase 1.25994
SLC25A3 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 1.25733
PPP1R3D protein phosphatase 1, regulatory subunit 3D 1.24689
EPM2AIP1 EPM2A (laforin) interacting protein 1 1.20569
PWP2 PWP2 periodic tryptophan protein homolog (yeast) 1.16008
SET SET nuclear proto-oncogene 1.1009
PRDM8 PR domain containing 8 1.08076
EFHC1 EF-hand domain (C-terminal) containing 1 1.06354
F2 coagulation factor II (thrombin) 1.06144
NNAT neuronatin 1.04588
TRAPPC10 trafficking protein particle complex 10 1.04377
NFU1 NFU1 iron-sulfur cluster scaffold 1.02692
MEOX2 mesenchyme homeobox 2 1.02018
PTPRD protein tyrosine phosphatase, receptor type, D 0.99908
POLI polymerase (DNA directed) iota 0.980531
GOSR2 golgi SNAP receptor complex member 2 0.974221
SCARB2 scavenger receptor class B, member 2 0.953273
PTPN12 protein tyrosine phosphatase, non-receptor type 12 0.943274
GBE1 glucan (1,4-alpha-), branching enzyme 1 0.937044
CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant 0.930828
SH3TC2 SH3 domain and tetratricopeptide repeats 2 0.88393
CTSS cathepsin S 0.874509
HIST1H1E histone cluster 1, H1e 0.852402
NUDT4 nudix (nucleoside diphosphate linked moiety X)-type motif 4 0.821667
PYGB phosphorylase, glycogen; brain 0.81018
PYGL phosphorylase, glycogen, liver 0.806488
PTPN11 protein tyrosine phosphatase, non-receptor type 11 0.794591
VCL vinculin 0.786803
DCP1A decapping mRNA 1A 0.783526
ASPH aspartate beta-hydroxylase 0.779432
PYGM phosphorylase, glycogen, muscle 0.778204
ANKRD54 ankyrin repeat domain 54 0.766759
PGLYRP3 peptidoglycan recognition protein 3 0.757378
PCDHGA10 protocadherin gamma subfamily A, 10 0.744766
SYN3 synapsin III 0.739488
KPNB1 karyopherin (importin) beta 1 0.716425
PPME1 protein phosphatase methylesterase 1 0.696306
SERPINI1 serpin peptidase inhibitor, clade I (neuroserpin), member 1 0.66596
NME1-NME2 NME1-NME2 readthrough 0.664372
CHURC1 churchill domain containing 1 0.656837
RCN1 reticulocalbin 1, EF-hand calcium binding domain 0.637889
EMP3 epithelial membrane protein 3 0.626888
CTSF cathepsin F 0.61866
NFYB nuclear transcription factor Y, beta 0.617094
CLN3 ceroid-lipofuscinosis, neuronal 3 0.612401
CTSB cathepsin B 0.593285
NME2 NME/NM23 nucleoside diphosphate kinase 2 0.58939
ZNF224 zinc finger protein 224 0.587833
KDELR1 KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1 0.586276
GAA glucosidase, alpha; acid 0.583941
BLOC1S4 biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino 0.576161
GYG1 glycogenin 1 0.56722
SIL1 SIL1 nucleotide exchange factor 0.565277
CST4 cystatin S 0.565277
SV2A synaptic vesicle glycoprotein 2A 0.545868
GLRA1 glycine receptor, alpha 1 0.537731
U2AF1 U2 small nuclear RNA auxiliary factor 1 0.51534
NUDT3 nudix (nucleoside diphosphate linked moiety X)-type motif 3 0.510344
EMP1 epithelial membrane protein 1 0.506507
FLVCR2 feline leukemia virus subgroup C cellular receptor family, member 2 0.502675
MRO maestro 0.501909
SRPR signal recognition particle receptor (docking protein) 0.489691
ST5 suppression of tumorigenicity 5 0.487027
TMPRSS3 transmembrane protease, serine 3 0.475634
ME3 malic enzyme 3, NADP(+)-dependent, mitochondrial 0.46655
SYN2 synapsin II 0.457487
EIF2B5 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa 0.456732
PFKM phosphofructokinase, muscle 0.456732
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 0.455978
DIO1 deiodinase, iodothyronine, type I 0.445805
RHCE Rh blood group, CcEe antigens 0.431519
MAP3K12 mitogen-activated protein kinase kinase kinase 12 0.429642
PTBP2 polypyrimidine tract binding protein 2 0.427015
PVALB parvalbumin 0.419517
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5 0.417644
HBP1 HMG-box transcription factor 1 0.413153
TRIM32 tripartite motif containing 32 0.412779
PERP PERP, TP53 apoptosis effector 0.404931
TREM2 triggering receptor expressed on myeloid cells 2 0.399707
NBPF8 neuroblastoma breakpoint family, member 8 0.398216
DVL2 dishevelled segment polarity protein 2 0.397843
CA2 carbonic anhydrase II 0.397843
FRMD6 FERM domain containing 6 0.397098
DUSP3 dual specificity phosphatase 3 0.396353
GBA glucosidase, beta, acid 0.394863
ST13 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) 0.376661
TBP TATA box binding protein 0.376661
C1QB complement component 1, q subcomponent, B chain 0.37555
PRTN3 proteinase 3 0.371847
C10ORF2 chromosome 10 open reading frame 2 0.369258
P4HTM prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) 0.367779
TP63 tumor protein p63 0.361502
CUX1 cut-like homeobox 1 0.356709
CLCN2 chloride channel, voltage-sensitive 2 0.351555
HFE hemochromatosis 0.351187
DDX21 DEAD (Asp-Glu-Ala-Asp) box helicase 21 0.348981
RERE arginine-glutamic acid dipeptide (RE) repeats 0.343473
IARS isoleucyl-tRNA synthetase 0.338707
CLN5 ceroid-lipofuscinosis, neuronal 5 0.337608
MT2A metallothionein 2A 0.337242
ARX aristaless related homeobox 0.336144
MEA1 male-enhanced antigen 1 0.32993
CTSE cathepsin E 0.325552
SRRM1 serine/arginine repetitive matrix 1 0.324458
AP1M2 adaptor-related protein complex 1, mu 2 subunit 0.323002
MTSS1 metastasis suppressor 1 0.31464
SUOX sulfite oxidase 0.313552
RHD Rh blood group, D antigen 0.309566
SCN1A sodium channel, voltage gated, type I alpha subunit 0.305587
BPGM 2,3-bisphosphoglycerate mutase 0.305587
PGAM2 phosphoglycerate mutase 2 (muscle) 0.303059
F10 coagulation factor X 0.300894
KCNQ3 potassium channel, voltage gated KQT-like subfamily Q, member 3 0.300533
AP2M1 adaptor-related protein complex 2, mu 1 subunit 0.291898
ELL elongation factor RNA polymerase II 0.28831
SIX2 SIX homeobox 2 0.28151
CA4 carbonic anhydrase IV 0.279724
TPP1 tripeptidyl peptidase I 0.279724
COL6A2 collagen, type VI, alpha 2 0.275801
SCN1B sodium channel, voltage gated, type I beta subunit 0.26266
HSPA4 heat shock 70kDa protein 4 0.262306
EFNA5 ephrin-A5 0.260184
PTBP1 polypyrimidine tract binding protein 1 0.258417
FAT1 FAT atypical cadherin 1 0.250311
RAD52 RAD52 homolog (S. cerevisiae) 0.250311
BCO1 beta-carotene oxygenase 1 0.24996
MMP12 matrix metallopeptidase 12 0.248905
PGAM1 phosphoglycerate mutase 1 (brain) 0.248905
CTSH cathepsin H 0.24715
MNT MAX network transcriptional repressor 0.244696
TYROBP TYRO protein tyrosine kinase binding protein 0.240847
PTPN2 protein tyrosine phosphatase, non-receptor type 2 0.222822
ATN1 atrophin 1 0.221108
SLC26A3 solute carrier family 26 (anion exchanger), member 3 0.217693
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4 0.203933
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2 0.203604
CRYGD crystallin, gamma D 0.197099
TXNL1 thioredoxin-like 1 0.191097
GNB2L1 guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1 0.188938
PTPN3 protein tyrosine phosphatase, non-receptor type 3 0.187113
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator 0.187113
SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1 0.182957
DAND5 DAN domain family member 5, BMP antagonist 0.180367
SACS sacsin molecular chaperone 0.172291
MECP2 methyl CpG binding protein 2 0.168617
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide 0.166995
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1 0.164359
AIRE autoimmune regulator 0.163729
AK6 adenylate kinase 6 0.163111
APOD apolipoprotein D 0.161331
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) 0.145726
C1QBP complement component 1, q subcomponent binding protein 0.14441
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like 0.14096
CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal) 0.140948
SNCA synuclein, alpha (non A4 component of amyloid precursor) 0.138605
CFP complement factor properdin 0.137853
CTSL cathepsin L 0.136467
GAN gigaxonin 0.136196
UBE2H ubiquitin-conjugating enzyme E2H 0.135956
SGK1 serum/glucocorticoid regulated kinase 1 0.134713
MX1 MX dynamin-like GTPase 1 0.134474
CTSK cathepsin K 0.133922
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 0.133904
SCN3A sodium channel, voltage gated, type III alpha subunit 0.131889
FUS FUS RNA binding protein 0.131386
TUBA1A tubulin, alpha 1a 0.13132
HSF1 heat shock transcription factor 1 0.130378
SCN8A sodium channel, voltage gated, type VIII alpha subunit 0.128283
HSPA8 heat shock 70kDa protein 8 0.127342