Rett Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
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)
External Link https://www.disgenet.org/browser/0/1/0/C1839332
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Genes

228 genes associated with the disease Rett Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABR active BCR-related
ACTB actin, beta
ADARB1 adenosine deaminase, RNA-specific, B1
ADIPOQ adiponectin, C1Q and collagen domain containing
AGER advanced glycosylation end product-specific receptor
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALB albumin
ALDH5A1 aldehyde dehydrogenase 5 family, member A1
ALOX15 arachidonate 15-lipoxygenase
AMACR alpha-methylacyl-CoA racemase
APOE apolipoprotein E
ARSD arylsulfatase D
ARX aristaless related homeobox
ATRX alpha thalassemia/mental retardation syndrome X-linked
BCL2 B-cell CLL/lymphoma 2
BDNF brain-derived neurotrophic factor
BLM Bloom syndrome, RecQ helicase-like
C1QA complement component 1, q subcomponent, A chain
C1QB complement component 1, q subcomponent, B chain
C1QC complement component 1, q subcomponent, C chain
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CAT catalase
CDKL5 cyclin-dependent kinase-like 5
CDR2 cerebellar degeneration-related protein 2, 62kDa
CHAT choline O-acetyltransferase
CHP1 calcineurin-like EF-hand protein 1
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal)
CLU clusterin
COX1
CREB1 cAMP responsive element binding protein 1
CREBBP CREB binding protein
CSTB cystatin B (stefin B)
CTCF CCCTC-binding factor (zinc finger protein)
CXCL8 chemokine (C-X-C motif) ligand 8
CXXC1 CXXC finger protein 1
DCTN3 dynactin 3 (p22)
DDX53 DEAD (Asp-Glu-Ala-Asp) box polypeptide 53
DLX5 distal-less homeobox 5
DLX6 distal-less homeobox 6
DNM1 dynamin 1
DNMT1 DNA (cytosine-5-)-methyltransferase 1
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
EDN2 endothelin 2
EGR2 early growth response 2
EIF4E eukaryotic translation initiation factor 4E
ELANE elastase, neutrophil expressed
ENO2 enolase 2 (gamma, neuronal)
EP300 E1A binding protein p300
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
FBP1 fructose-1,6-bisphosphatase 1
FBP2 fructose-1,6-bisphosphatase 2
FGF2 fibroblast growth factor 2 (basic)
FGF4 fibroblast growth factor 4
FMR1 fragile X mental retardation 1
FOLR1 folate receptor 1 (adult)
FOLR2 folate receptor 2 (fetal)
FOXG1 forkhead box G1
FUBP1 far upstream element (FUSE) binding protein 1
FXYD1 FXYD domain containing ion transport regulator 1
GABBR1 gamma-aminobutyric acid (GABA) B receptor, 1
GABBR2 gamma-aminobutyric acid (GABA) B receptor, 2
GABRA3 gamma-aminobutyric acid (GABA) A receptor, alpha 3
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GATA4 GATA binding protein 4
GDI1 GDP dissociation inhibitor 1
GDI2 GDP dissociation inhibitor 2
GFAP glial fibrillary acidic protein
GH1 growth hormone 1
GLRA2 glycine receptor, alpha 2
GLRA3 glycine receptor, alpha 3
GLUD1 glutamate dehydrogenase 1
GLUD2 glutamate dehydrogenase 2
GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GPM6B glycoprotein M6B
GPR55 G protein-coupled receptor 55
GRIA2 glutamate receptor, ionotropic, AMPA 2
GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1
GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B
GRM5 glutamate receptor, metabotropic 5
GRM7 glutamate receptor, metabotropic 7
GSK3B glycogen synthase kinase 3 beta
GSR glutathione reductase
GYPE glycophorin E (MNS blood group)
HAGH hydroxyacylglutathione hydrolase
HDAC2 histone deacetylase 2
HDAC6 histone deacetylase 6
HDAC8 histone deacetylase 8
HIST1H4A histone cluster 1, H4a
HIST1H4B histone cluster 1, H4b
HIST1H4C histone cluster 1, H4c
HIST1H4D histone cluster 1, H4d
HIST1H4E histone cluster 1, H4e
HIST1H4F histone cluster 1, H4f
HIST1H4H histone cluster 1, H4h
HIST1H4I histone cluster 1, H4i
HIST1H4J histone cluster 1, H4j
HIST1H4K histone cluster 1, H4k
HIST1H4L histone cluster 1, H4l
HIST2H4A histone cluster 2, H4a
HIST2H4B histone cluster 2, H4b
HIST4H4 histone cluster 4, H4
HOOK1 hook microtubule-tethering protein 1
HOXA1 homeobox A1
HPRT1 hypoxanthine phosphoribosyltransferase 1
HTR7 5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled
ID1 inhibitor of DNA binding 1, dominant negative helix-loop-helix protein
ID2 inhibitor of DNA binding 2, dominant negative helix-loop-helix protein
ID3 inhibitor of DNA binding 3, dominant negative helix-loop-helix protein
ID4 inhibitor of DNA binding 4, dominant negative helix-loop-helix protein
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IGF2 insulin-like growth factor 2
IGFBP3 insulin-like growth factor binding protein 3
IL10 interleukin 10
IL13 interleukin 13
IL15 interleukin 15
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL4 interleukin 4
IL9 interleukin 9
IQSEC2 IQ motif and Sec7 domain 2
IRAK1 interleukin-1 receptor-associated kinase 1
JMJD1C jumonji domain containing 1C
KCNA2 potassium channel, voltage gated shaker related subfamily A, member 2
KCNB1 potassium channel, voltage gated Shab related subfamily B, member 1
KIF1A kinesin family member 1A
L1CAM L1 cell adhesion molecule
LBR lamin B receptor
LDLR low density lipoprotein receptor
LEP leptin
MAP2 microtubule-associated protein 2
MBD1 methyl-CpG binding domain protein 1
MBD2 methyl-CpG binding domain protein 2
MBD5 methyl-CpG binding domain protein 5
MECP2 methyl CpG binding protein 2
MED18 mediator complex subunit 18
MED19 mediator complex subunit 19
MEF2C myocyte enhancer factor 2C
MET MET proto-oncogene, receptor tyrosine kinase
MOK MOK protein kinase
MT1A metallothionein 1A
MTOR mechanistic target of rapamycin (serine/threonine kinase)
NCOR2 nuclear receptor corepressor 2
NDN necdin, melanoma antigen (MAGE) family member
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NOS2 nitric oxide synthase 2, inducible
NTNG1 netrin G1
NTNG2 netrin G2
NUCLEOLIN nucleolin multifunctional protein
NUP98 nucleoporin 98kDa
OPN1LW opsin 1 (cone pigments), long-wave-sensitive
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PAG1 phosphoprotein membrane anchor with glycosphingolipid microdomains 1
PCBP4 poly(rC) binding protein 4
PCDH19 protocadherin 19
PCDH7 protocadherin 7
PCDHB1 protocadherin beta 1
PDE4A phosphodiesterase 4A, cAMP-specific
PDK1 pyruvate dehydrogenase kinase, isozyme 1
PER2 period circadian clock 2
PHB2 prohibitin 2
PLXNA2 plexin A2
POMC proopiomelanocortin
POTEF POTE ankyrin domain family, member F
PRPF40A PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)
PRPF6 pre-mRNA processing factor 6
PSEN2 presenilin 2
PTH parathyroid hormone
PTPN1 protein tyrosine phosphatase, non-receptor type 1
PTPN4 protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)
RAB14 RAB14, member RAS oncogene family
RECQL4 RecQ protein-like 4
REM1 RAS (RAD and GEM)-like GTP-binding 1
RHOBTB2 Rho-related BTB domain containing 2
RREB1 ras responsive element binding protein 1
RUNX2 runt-related transcription factor 2
SCARB1 scavenger receptor class B, member 1
SCN1A sodium channel, voltage gated, type I alpha subunit
SHANK3 SH3 and multiple ankyrin repeat domains 3
SIRT2 sirtuin 2
SLC12A2 solute carrier family 12 (sodium/potassium/chloride transporter), member 2
SLC12A5 solute carrier family 12 (potassium/chloride transporter), member 5
SLC18A3 solute carrier family 18 (vesicular acetylcholine transporter), member 3
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SMC1A structural maintenance of chromosomes 1A
SMN1 survival of motor neuron 1, telomeric
SOD1 superoxide dismutase 1, soluble
SOX3 SRY (sex determining region Y)-box 3
SRI sorcin
SRY sex determining region Y
ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5
STAR steroidogenic acute regulatory protein
STMN1 stathmin 1
STX5 syntaxin 5
STXBP1 syntaxin binding protein 1
SYN1 synapsin I
SYT6 synaptotagmin VI
TAC1 tachykinin, precursor 1
TAZ tafazzin
TBL1XR1 transducin (beta)-like 1 X-linked receptor 1
TCF4 transcription factor 4
TET1 tet methylcytosine dioxygenase 1
TH tyrosine hydroxylase
TMEM189 transmembrane protein 189
TMEM189-UBE2V1 TMEM189-UBE2V1 readthrough
TMPRSS11D transmembrane protease, serine 11D
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TTR transthyretin
TUBA1B tubulin, alpha 1b
UBA1 ubiquitin-like modifier activating enzyme 1
UBE2I ubiquitin-conjugating enzyme E2I
UBE2V1 ubiquitin-conjugating enzyme E2 variant 1
UBE3A ubiquitin protein ligase E3A
VAMP7 vesicle-associated membrane protein 7
VEGFA vascular endothelial growth factor A
VIP vasoactive intestinal peptide
WDR45 WD repeat domain 45
WRN Werner syndrome, RecQ helicase-like
XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1
ZBTB18 zinc finger and BTB domain containing 18
ZNF253 zinc finger protein 253
ZNF436 zinc finger protein 436
ZNF569 zinc finger protein 569
ZNF629 zinc finger protein 629
ZNF763 zinc finger protein 763