FMR1, FMRP translational regulator 1, 2332

N. diseases: 346; N. variants: 10
Disease: Brain atrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551584
Disease: Brain atrophy
Brain atrophy 		0.020 GeneticVariation disease BEFREE Premutation alleles of the fragile X mental retardation 1 (FMR1) gene give rise to a late-onset movement disorder, fragile X-associated tremor/ataxia syndrome (FXTAS), characterized by progressive intention tremor and gait ataxia, with associated dementia and global brain atrophy. 17133502 2007
CUI: C4551584
Disease: Brain atrophy
Brain atrophy 		0.020 GeneticVariation disease BEFREE A neurological syndrome involving progressive action tremor with ataxia, cognitive decline and generalized brain atrophy has been described recently in some adult males with pre-mutation alleles of the fragile X syndrome (FXS) fragile X mental retardation gene (FMR1). 12135967 2002