Fragile X Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A neurodegenerative disease that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in a loss of FMR1 function. (Human Disease Ontology, DOID_14261)
External Link https://www.disgenet.org/browser/0/1/0/C0016667
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Genes

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

Symbol Name
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
ACTB actin, beta
ADAM10 ADAM metallopeptidase domain 10
ADARB1 adenosine deaminase, RNA-specific, B1
ADCY1 adenylate cyclase 1 (brain)
ADCYAP1 adenylate cyclase activating polypeptide 1 (pituitary)
AFF2 AF4/FMR2 family, member 2
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALPI alkaline phosphatase, intestinal
ALPP alkaline phosphatase, placental
ANG angiogenin, ribonuclease, RNase A family, 5
ANXA1 annexin A1
APOA1 apolipoprotein A-I
APP amyloid beta (A4) precursor protein
APRT adenine phosphoribosyltransferase
ARHGEF9 Cdc42 guanine nucleotide exchange factor (GEF) 9
ARSD arylsulfatase D
ATXN3 ataxin 3
AVP arginine vasopressin
BCR breakpoint cluster region
BDNF brain-derived neurotrophic factor
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
BRCA2 breast cancer 2, early onset
BRD4 bromodomain containing 4
C9ORF72 chromosome 9 open reading frame 72
CAPRIN1 cell cycle associated protein 1
CAT catalase
CD44 CD44 molecule (Indian blood group)
CD47 CD47 molecule
CFP complement factor properdin
CHD7 chromodomain helicase DNA binding protein 7
CHMP4A charged multivesicular body protein 4A
CLSTN1 calsyntenin 1
CPEB1 cytoplasmic polyadenylation element binding protein 1
CRHR1 corticotropin releasing hormone receptor 1
CTCF CCCTC-binding factor (zinc finger protein)
CYFIP1 cytoplasmic FMR1 interacting protein 1
CYFIP2 cytoplasmic FMR1 interacting protein 2
DGKK diacylglycerol kinase, kappa
DICER1 dicer 1, ribonuclease type III
DLD dihydrolipoamide dehydrogenase
DLG3 discs, large homolog 3 (Drosophila)
DLG4 discs, large homolog 4 (Drosophila)
DSCAM Down syndrome cell adhesion molecule
DSTN destrin (actin depolymerizing factor)
EIF4E eukaryotic translation initiation factor 4E
ELAVL2 ELAV like neuron-specific RNA binding protein 2
F9 coagulation factor IX
FBN1 fibrillin 1
FMR1 fragile X mental retardation 1
FOSL1 FOS-like antigen 1
FXN frataxin
FXR1 fragile X mental retardation, autosomal homolog 1
FXR2 fragile X mental retardation, autosomal homolog 2
G6PD glucose-6-phosphate dehydrogenase
GABPA GA binding protein transcription factor, alpha subunit 60kDa
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GRIA2 glutamate receptor, ionotropic, AMPA 2
GRIK1 glutamate receptor, ionotropic, kainate 1
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A
GRM1 glutamate receptor, metabotropic 1
GRM5 glutamate receptor, metabotropic 5
GRN granulin
GSK3B glycogen synthase kinase 3 beta
GSN gelsolin
HDAC6 histone deacetylase 6
HSPG2 heparan sulfate proteoglycan 2
HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled
HTT huntingtin
IAPP islet amyloid polypeptide
ICAM5 intercellular adhesion molecule 5, telencephalin
IDS iduronate 2-sulfatase
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF2 insulin-like growth factor 2
IGFALS insulin-like growth factor binding protein, acid labile subunit
IL6 interleukin 6
INPP5K inositol polyphosphate-5-phosphatase K
IRF6 interferon regulatory factor 6
KCNH1 potassium channel, voltage gated eag related subfamily H, member 1
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KCNT1 potassium channel, sodium activated subfamily T, member 1
KIAA1109 KIAA1109
LGALS4 lectin, galactoside-binding, soluble, 4
LIMK1 LIM domain kinase 1
LMNA lamin A/C
MAGT1 magnesium transporter 1
MAK16 MAK16 homolog (S. cerevisiae)
MAOA monoamine oxidase A
MAPK3 mitogen-activated protein kinase 3
MAS1 MAS1 proto-oncogene, G protein-coupled receptor
MBD5 methyl-CpG binding domain protein 5
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MED18 mediator complex subunit 18
MEF2A myocyte enhancer factor 2A
MFAP1 microfibrillar-associated protein 1
MLH1 mutL homolog 1
MMP9 matrix metallopeptidase 9
MSH2 mutS homolog 2
NBEA neurobeachin
NCS1 neuronal calcium sensor 1
NF1 neurofibromin 1
NFE2L1 nuclear factor, erythroid 2-like 1
NFE2L2 nuclear factor, erythroid 2-like 2
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
NNAT neuronatin
NOS1 nitric oxide synthase 1 (neuronal)
NR1H4 nuclear receptor subfamily 1, group H, member 4
NRF1 nuclear respiratory factor 1
NRG1 neuregulin 1
NRXN1 neurexin 1
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
NUFIP2 nuclear fragile X mental retardation protein interacting protein 2
NUP98 nucleoporin 98kDa
PAK1 p21 protein (Cdc42/Rac)-activated kinase 1
PAX3 paired box 3
PCSK9 proprotein convertase subtilisin/kexin type 9
PDE2A phosphodiesterase 2A, cGMP-stimulated
PDE4D phosphodiesterase 4D, cAMP-specific
PDLIM5 PDZ and LIM domain 5
PGD phosphogluconate dehydrogenase
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PKP4 plakophilin 4
PLCG1 phospholipase C, gamma 1
PNO1 partner of NOB1 homolog (S. cerevisiae)
PPP1R12A protein phosphatase 1, regulatory subunit 12A
PPP2R5E protein phosphatase 2, regulatory subunit B', epsilon isoform
PTBP1 polypyrimidine tract binding protein 1
PTEN phosphatase and tensin homolog
PTPN5 protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)
PVALB parvalbumin
RABEP2 rabaptin, RAB GTPase binding effector protein 2
RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)
RAI1 retinoic acid induced 1
RANGAP1 Ran GTPase activating protein 1
RBMS3 RNA binding motif, single stranded interacting protein 3
RCAN1 regulator of calcineurin 1
REST RE1-silencing transcription factor
RGS4 regulator of G-protein signaling 4
RIC8A RIC8 guanine nucleotide exchange factor A
RPS6KB1 ribosomal protein S6 kinase, 70kDa, polypeptide 1
SCN2A sodium channel, voltage gated, type II alpha subunit
SDC2 syndecan 2
SHANK1 SH3 and multiple ankyrin repeat domains 1
SHBG sex hormone-binding globulin
SHC2 SHC (Src homology 2 domain containing) transforming protein 2
SIRT1 sirtuin 1
SKI SKI proto-oncogene
SLC12A2 solute carrier family 12 (sodium/potassium/chloride transporter), member 2
SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2
SLC36A1 solute carrier family 36 (proton/amino acid symporter), member 1
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SMS spermine synthase
SNRPN small nuclear ribonucleoprotein polypeptide N
SOD1 superoxide dismutase 1, soluble
SPARC secreted protein, acidic, cysteine-rich (osteonectin)
SRRM2 serine/arginine repetitive matrix 2
SRY sex determining region Y
ST14 suppression of tumorigenicity 14 (colon carcinoma)
ST8SIA4 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4
STATH statherin
STXBP1 syntaxin binding protein 1
SYN1 synapsin I
TARDBP TAR DNA binding protein
TDRD3 tudor domain containing 3
TOP3B topoisomerase (DNA) III beta
TWIST1 twist family bHLH transcription factor 1
TWNK twinkle mtDNA helicase
UBE3A ubiquitin protein ligase E3A
USF1 upstream transcription factor 1
USF2 upstream transcription factor 2, c-fos interacting
VEGFA vascular endothelial growth factor A
VIP vasoactive intestinal peptide
WASF1 WAS protein family, member 1
WNT7A wingless-type MMTV integration site family, member 7A
YTHDF2 YTH N(6)-methyladenosine RNA binding protein 2