rett syndrome Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
Description A pervasive developmental disease that is a neurological and developmental disorder that mostly occurs in females and is caused_by a mutation on the MECP2 gene on the X chromosome. Infants with Rett syndrome seem to grow and develop normally at first, but then stop developing and even lose skills and abilities. (Human Disease Ontology, DOID_1206)
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Genes

183 genes co-occuring with the disease rett syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
MECP2 methyl CpG binding protein 2 4.89027
CDKL5 cyclin-dependent kinase-like 5 2.84934
FOXG1 forkhead box G1 2.06216
BDNF brain-derived neurotrophic factor 1.7159
DLX5 distal-less homeobox 5 1.47682
NTNG1 netrin G1 1.4206
CXXC1 CXXC finger protein 1 1.39739
NTNG2 netrin G2 1.38603
SIN3A SIN3 transcription regulator family member A 1.35638
PRPF40A PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae) 1.32585
UBE3A ubiquitin protein ligase E3A 1.30488
MBD6 methyl-CpG binding domain protein 6 1.28828
DLX6 distal-less homeobox 6 1.28392
NPY4R neuropeptide Y receptor Y4 1.2018
BEND2 BEN domain containing 2 1.06396
LINC01551 long intergenic non-protein coding RNA 1551 0.961216
WDR45 WD repeat domain 45 0.952021
FXYD1 FXYD domain containing ion transport regulator 1 0.925452
IRAK1 interleukin-1 receptor-associated kinase 1 0.920911
PCDHB1 protocadherin beta 1 0.918848
PCDH19 protocadherin 19 0.913903
NGF nerve growth factor (beta polypeptide) 0.888848
ATRX alpha thalassemia/mental retardation syndrome X-linked 0.887618
RNF182 ring finger protein 182 0.848307
GABRA3 gamma-aminobutyric acid (GABA) A receptor, alpha 3 0.828229
SCML2 sex comb on midleg-like 2 (Drosophila) 0.799103
SETDB1 SET domain, bifurcated 1 0.74883
FMR1 fragile X mental retardation 1 0.731381
SLC32A1 solute carrier family 32 (GABA vesicular transporter), member 1 0.717635
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta 0.715215
GPRIN2 G protein regulated inducer of neurite outgrowth 2 0.714408
DNMT1 DNA (cytosine-5-)-methyltransferase 1 0.705144
SHANK3 SH3 and multiple ankyrin repeat domains 3 0.694301
DMAP1 DNA methyltransferase 1 associated protein 1 0.691896
MEF2C myocyte enhancer factor 2C 0.688692
SYN1 synapsin I 0.686691
CHAT choline O-acetyltransferase 0.671527
LRRC4C leucine rich repeat containing 4C 0.666755
SEMA3D sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 0.665166
HDAC9 histone deacetylase 9 0.663975
UQCRC1 ubiquinol-cytochrome c reductase core protein I 0.661594
PRPF3 pre-mRNA processing factor 3 0.659611
HIST2H3PS2 histone cluster 2, H3, pseudogene 2 0.659215
TAC1 tachykinin, precursor 1 0.656441
H3F3B H3 histone, family 3B (H3.3B) 0.652089
H3F3A H3 histone, family 3A 0.652089
PRPF40B PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) 0.644586
PRKD1 protein kinase D1 0.642221
PTCHD1 patched domain containing 1 0.641039
CPSF3 cleavage and polyadenylation specific factor 3, 73kDa 0.632384
DGCR8 DGCR8 microprocessor complex subunit 0.626888
KLF7 Kruppel-like factor 7 (ubiquitous) 0.6214
GABRR2 gamma-aminobutyric acid (GABA) A receptor, rho 2 0.603811
HDAC2 histone deacetylase 2 0.60342
HDAC1 histone deacetylase 1 0.590948
IGF1 insulin-like growth factor 1 (somatomedin C) 0.590169
PRRG4 proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane) 0.581217
PQBP1 polyglutamine binding protein 1 0.579272
SETDB2 SET domain, bifurcated 2 0.57305
RPH3A rabphilin 3A 0.556344
RELN reelin 0.547807
MBD1 methyl-CpG binding domain protein 1 0.544705
PCDH7 protocadherin 7 0.538506
SNRPN small nuclear ribonucleoprotein polypeptide N 0.528063
TH tyrosine hydroxylase 0.528063
MBD4 methyl-CpG binding domain protein 4 0.501527
NRP2 neuropilin 2 0.493122
HTR7 5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled 0.49274
GLUD2 glutamate dehydrogenase 2 0.487027
FRG2 FSHD region gene 2 0.480186
PTMS parathymosin 0.471846
POMC proopiomelanocortin 0.470332
TBL1XR1 transducin (beta)-like 1 X-linked receptor 1 0.45447
PRPS1L1 phosphoribosyl pyrophosphate synthetase 1-like 1 0.453716
SPOCK1 sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 0.44129
TUBA1C tubulin, alpha 1c 0.436026
SELM selenoprotein M 0.432646
LRRC4 leucine rich repeat containing 4 0.431144
AR androgen receptor 0.429266
EYA2 EYA transcriptional coactivator and phosphatase 2 0.42739
HTR1A 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled 0.42589
TUBA1B tubulin, alpha 1b 0.424014
FMN1 formin 1 0.421765
ST7 suppression of tumorigenicity 7 0.419142
HNRNPF heterogeneous nuclear ribonucleoprotein F 0.410909
KCNJ16 potassium channel, inwardly rectifying subfamily J, member 16 0.410909
CREB1 cAMP responsive element binding protein 1 0.403811
HOXA1 homeobox A1 0.403438
GLRA2 glycine receptor, alpha 2 0.403064
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3 0.395608
NAV3 neuron navigator 3 0.394118
EPC2 enhancer of polycomb homolog 2 (Drosophila) 0.390025
SLC9A7 solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 0.386679
FKBP5 FK506 binding protein 5 0.385936
NCOR1 nuclear receptor corepressor 1 0.382966
SMARCA1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 0.381481
LST1 leukocyte specific transcript 1 0.377402
CROCC ciliary rootlet coiled-coil, rootletin 0.377031
PTER phosphotriesterase related 0.377031
GDI1 GDP dissociation inhibitor 1 0.371107
IMMP2L IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae) 0.369628
HOXA2 homeobox A2 0.369258
MBD2 methyl-CpG binding domain protein 2 0.365562
MOBP myelin-associated oligodendrocyte basic protein 0.363716
UBE2I ubiquitin-conjugating enzyme E2I 0.361133
SLC18A3 solute carrier family 18 (vesicular acetylcholine transporter), member 3 0.355604
DROSHA drosha, ribonuclease type III 0.355604
OPLAH 5-oxoprolinase (ATP-hydrolysing) 0.353395
GDI2 GDP dissociation inhibitor 2 0.349717
HCFC1 host cell factor C1 0.348981
FRG2B FSHD region gene 2 family, member B 0.343106
SYP synaptophysin 0.338707
TCF4 transcription factor 4 0.329565
TPH1 tryptophan hydroxylase 1 0.324458
BTD biotinidase 0.315366
FZD9 frizzled class receptor 9 0.310652
SH3GL2 SH3-domain GRB2-like 2 0.305226
FOLR1 folate receptor 1 (adult) 0.304864
SHANK2 SH3 and multiple ankyrin repeat domains 2 0.304142
UNC5C unc-5 homolog C (C. elegans) 0.300533
RBSN rabenosyn, RAB effector 0.298371
GABRA5 gamma-aminobutyric acid (GABA) A receptor, alpha 5 0.296571
RAPGEF3 Rap guanine nucleotide exchange factor (GEF) 3 0.291898
SIM1 single-minded family bHLH transcription factor 1 0.291898
MIR184 microRNA 184 0.287235
PRPS2 phosphoribosyl pyrophosphate synthetase 2 0.284728
ADAM23 ADAM metallopeptidase domain 23 0.284013
HIPK2 homeodomain interacting protein kinase 2 0.283297
GRPR gastrin-releasing peptide receptor 0.28151
ARHGAP32 Rho GTPase activating protein 32 0.27794
PCDH10 protocadherin 10 0.27794
MNX1 motor neuron and pancreas homeobox 1 0.271174
DCX doublecortin 0.269753
HCCS holocytochrome c synthase 0.269043
UBE2S ubiquitin-conjugating enzyme E2S 0.268332
WRNIP1 Werner helicase interacting protein 1 0.267977
UBA1 ubiquitin-like modifier activating enzyme 1 0.262306
ATP6AP1 ATPase, H+ transporting, lysosomal accessory protein 1 0.258064
CDON cell adhesion associated, oncogene regulated 0.252422
YBX1 Y box binding protein 1 0.251015
CAMK2G calcium/calmodulin-dependent protein kinase II gamma 0.248905
SQLE squalene epoxidase 0.247501
PCDH11Y protocadherin 11 Y-linked 0.244345
STMN2 stathmin 2 0.241196
PHOX2A paired-like homeobox 2a 0.239101
NPY1R neuropeptide Y receptor Y1 0.233878
UBE2K ubiquitin-conjugating enzyme E2K 0.229024
PC pyruvate carboxylase 0.227642
TLK2 tousled-like kinase 2 0.222136
GABRA2 gamma-aminobutyric acid (GABA) A receptor, alpha 2 0.218374
SOCS5 suppressor of cytokine signaling 5 0.217693
GHRL ghrelin/obestatin prepropeptide 0.212945
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8 0.210589
NLGN3 neuroligin 3 0.205585
PCDH11X protocadherin 11 X-linked 0.203933
OPHN1 oligophrenin 1 0.200006
MTOR mechanistic target of rapamycin (serine/threonine kinase) 0.200006
SYNE1 spectrin repeat containing, nuclear envelope 1 0.197742
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 0.195183
RPS6 ribosomal protein S6 0.188022
GRIA3 glutamate receptor, ionotropic, AMPA 3 0.18472
GTF2I general transcription factor IIi 0.184128
SEMA3F sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F 0.183541
MMP10 matrix metallopeptidase 10 0.183541
SMC3 structural maintenance of chromosomes 3 0.183248
FEV FEV (ETS oncogene family) 0.175411
GAD1 glutamate decarboxylase 1 (brain, 67kDa) 0.174881
ADAM28 ADAM metallopeptidase domain 28 0.174617
SIM2 single-minded family bHLH transcription factor 2 0.171286
PRPS1 phosphoribosyl pyrophosphate synthetase 1 0.170544
SATB2 SATB homeobox 2 0.167682
DNM1 dynamin 1 0.167682
VAMP2 vesicle-associated membrane protein 2 (synaptobrevin 2) 0.165217
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 0.164786
ATG4C autophagy related 4C, cysteine peptidase 0.162306
SYT1 synaptotagmin I 0.161716
CFHR3 complement factor H-related 3 0.161331
GJC1 gap junction protein, gamma 1, 45kDa 0.160387
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal) 0.160203
PLAGL1 pleiomorphic adenoma gene-like 1 0.159838
HIST2H2AC histone cluster 2, H2ac 0.158951
HIST2H2AA4 histone cluster 2, H2aa4 0.158778
HIST2H2AA3 histone cluster 2, H2aa3 0.158778