FMR1, FMRP translational regulator 1, 2332

N. diseases: 346; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0742035
Disease: Cerebellar lesion NOS
Cerebellar lesion NOS
0.010 GeneticVariation disease BEFREE Fragile X-associated tremor/ataxia syndrome (FXTAS), a late-onset movement disorder affecting FMR1 premutation carriers, is associated with cerebral and cerebellar lesions. 23298734 2013