Fragile X Syndrome Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
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)
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19 genes associated with the Fragile X Syndrome phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
AFF2 AF4/FMR2 family, member 2
APOE apolipoprotein E
AR androgen receptor
ATN1 atrophin 1
ATXN1 ataxin 1
ATXN3 ataxin 3
BDNF brain-derived neurotrophic factor
DMPK dystrophia myotonica-protein kinase
FMR1 fragile X mental retardation 1
FRAXA fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation)
FRAXE fragile site, folic acid type, rare, fra(X)(q28) E
FXN frataxin
GDI1 GDP dissociation inhibitor 1
HOXA1 homeobox A1
HTT huntingtin
INHA inhibin, alpha
MAOA monoamine oxidase A
MECP2 methyl CpG binding protein 2
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4