fragile x syndrome Gene Set

Dataset GAD 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)
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Genes

4 genes associated with the disease fragile x syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Symbol Name
AFF2 AF4/FMR2 family, member 2
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