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: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker disease BEFREE In summary, our results thus reveal a new role of FMRP in PD and support the examination of FMRP-regulated genes in PD disease progression. 31768670 2020
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 GeneticVariation disease BEFREE Our results indicate that there is a potential association between FMR1 intermediate expanded alleles and PD. 27696273 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 GeneticVariation disease BEFREE White matter changes in patients with Parkinson's disease carrying small CGG expansion FMR1 alleles: a pilot study. 24401315 2014
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 GeneticVariation disease BEFREE New evidence for, and challenges in, linking small CGG repeat expansion FMR1 alleles with Parkinson's disease. 23198693 2013
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 AlteredExpression disease BEFREE The Parkinson disease (Unified Parkinson's Disease Rating Scale) motor score and the measures of cognitive decline (Mini-Mental State Examination and/or Addenbrooke's Cognitive Examination Final Revised Version A scores) were significantly correlated with the size of the CGG repeat and the (elevated) levels of antisense FMR1 and Cytochrome C1 mRNAs in blood leukocytes. 21270637 2011
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 GeneticVariation disease BEFREE It is debatable whether the size of triplet repeats of the fragile X mental retardation genes FMR1 and FMR2 (found at the FRAXA and FRAXE loci) is associated with Parkinson's disease (PD). 21257332 2011
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 GeneticVariation disease BEFREE Our results, however, suggest that fragile X mental retardation 1 gray-zone alleles may be associated with Parkinson's disease in women. 21567456 2011
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 GeneticVariation disease BEFREE To determine if patients with parkinsonism and fragile X mental retardation 1 (FMR1) gene expansions have a striatal dopamine deficit similar to Parkinson disease (PD) patients. 20702130 2010
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 GeneticVariation disease BEFREE To screen DNA samples from a large cohort of females with Parkinson disease for an excess of expanded alleles of the FMR1 gene. 19204162 2009
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 GeneticVariation disease LHGDN Parkinsonism in FMR1 premutation carriers may be indistinguishable from Parkinson disease. 18565783 2009
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 GeneticVariation disease BEFREE Parkinsonism in FMR1 premutation carriers may be indistinguishable from Parkinson disease. 18565783 2009
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 GeneticVariation disease BEFREE Broad screening for premutation alleles in Parkinson disease populations is unlikely to be productive in the absence of additional clinical or family history data that suggest involvement of the FMR1 gene. 17620491 2007
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 GeneticVariation disease LHGDN To screen DNA samples (male) from an Italian Parkinson disease clinic for an excess of premutation expansions of the FMR1 gene. 17620491 2007
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 GeneticVariation disease BEFREE FMR1 alleles in Parkinson's disease: relation to cognitive decline and hallucinations, a longitudinal study. 17548778 2007
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 GeneticVariation disease BEFREE Expansions within the FMR1 gene are not associated with PD in our study. 15390127 2005
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 GeneticVariation disease BEFREE Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease? 15929093 2005