|Dataset||CTD Gene-Disease Associations|
|Category||disease or phenotype associations|
|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)|
|Downloads & Tools|
3 genes/proteins associated with the disease Fragile X Syndrome from the curated CTD Gene-Disease Associations dataset.