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: C0338656
Disease: Impaired cognition
Impaired cognition
0.100 GeneticVariation disease BEFREE Expansion of a polymorphic GCC-repeat at the FRAXE locus has been associated with expression of chromosome fragility at this site and cognitive impairment in some individuals previously testing negative for CGG-repeat expansion in the fragile X mental retardation-1 (FMR1) gene. 8844096 1996
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.100 GeneticVariation disease BEFREE In the fragile X female carriers the degree of cognitive impairment appears to be correlated with activation status of the X chromosome bearing the expanded trinucleotide repeat in the promoter of the FMR1 gene. 10449653 1999
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.100 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
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.100 GeneticVariation disease BEFREE However, a neurological condition involving intention tremor, ataxia, and cognitive decline has recently been identified among older male carriers of premutation alleles of the FMR1 gene. 14526182 2003
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.100 Biomarker disease BEFREE This deficit occurred independently of general cognitive impairment but was related to depletion of fragile X mental retardation 1 gene protein product. 14599277 2003
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.100 Biomarker disease BEFREE The results are also suggestive of factors other than FMRP deficit which may determine some specific cognitive deficits in fragile X pre-mutation carriers. 12949966 2003
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.100 GeneticVariation disease BEFREE FMR1 alleles in Parkinson's disease: relation to cognitive decline and hallucinations, a longitudinal study. 17548778 2007
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.100 GeneticVariation disease BEFREE Our results highlight that FXTAS is still not well diagnosed; therefore, we recommend FMR1 premutation screenings in all patients with late-onset tremor, ataxia, and cognitive dysfunction. 18373410 2008
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.100 AlteredExpression disease BEFREE Aspects of FXTAS that are modeled well include elevated levels of Fmr1 mRNA, reduced levels of Fmrp, the presence of intranuclear inclusions that develop with age and show similar distributions within neurons, and neuropsychological and cognitive deficits, including poor motor function, impaired memory and evidence of increased anxiety. 19574928 2009
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.100 AlteredExpression disease BEFREE It arises from a mutation in the FMR1 gene on the X chromosome that interferes with expression of fragile X mental retardation protein (FMRP) and leads to a wide range of behavioural and cognitive deficits. 19796132 2010
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
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: C0338656
Disease: Impaired cognition
Impaired cognition
0.100 GeneticVariation disease BEFREE While males and females with the full FMR1 mutation are affected differently because the disorder is X-linked, both suffer from varying degrees of cognitive impairment, attention deficits and social anxiety. 21291994 2011
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.100 Biomarker disease BEFREE Despite extensive research, it is unclear how FMRP deficiency contributes to the cognitive deficits in FXS. 21516088 2011
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.100 GeneticVariation disease BEFREE Here we show that young adult female fXPCs show subtle, yet significant, age- and FMR1 gene mutation-modulated cognitive impairments as tested by a quantitative magnitude comparison task. 21295394 2011
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.100 GeneticVariation disease BEFREE Loss of the RNA-binding fragile X protein [fragile X mental retardation protein (FMRP)] results in a spectrum of cognitive deficits, the fragile X syndrome (FXS), while aging individuals with decreased protein levels present with a subset of these symptoms and tremor. 22993428 2012
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.100 GeneticVariation disease BEFREE Thus, alterations in FMRP posttranscriptional regulation of NOS1 in developing neocortical circuits may contribute to cognitive dysfunction in FXS. 22579290 2012
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.100 GeneticVariation disease BEFREE The data suggest that hypermethylation of the FMR1 intron 1 sites in blood is predictive of cognitive impairment in FM females, with implications for improved fragile X syndrome diagnostics in young children and screening of the newborn population. 22235103 2012
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.100 Biomarker disease BEFREE It is characterized by cognitive impairment and physical and behavioral problems and is caused by the silencing of fmr1 transcription and the absence of the fmr1 protein (FMRP). 23536755 2013
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.100 AlteredExpression disease BEFREE Methylation of the fragile X-related epigenetic element 2 (FREE2) located on the exon 1/intron 1 boundary of the FMR1 gene is related to FMRP expression and cognitive impairment in full mutation (FM; CGG>200) individuals. 23307923 2013
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.100 Biomarker disease BEFREE Examples include CAPRIN1 and AFF2 (both linked to FMR1, which is involved in fragile X syndrome), VIP (involved in social-cognitive deficits), and other genes such as SCN2A and KCNQ2 (linked to epilepsy), NRXN1, and CHD7, which causes ASD-associated CHARGE syndrome. 23849776 2013
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.100 PosttranslationalModification disease BEFREE Fragile X syndrome, the most common heritable form of cognitive impairment, is caused by epigenetic silencing of the fragile X (FMR1) gene owing to large expansions (>200 repeats) of a non-coding CGG-repeat element. 23867198 2013
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.100 AlteredExpression disease BEFREE This syndrome is produced by the reduced transcription of the fragile X mental retardation (FMR1) gene, and it is characterized by a range of symptoms heterogeneously expressed in patients such as cognitive impairment, seizure susceptibility, altered pain sensitivity and anxiety. 24831882 2014
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.100 AlteredExpression disease BEFREE Silencing of the fragile X mental retardation 1 (FMR1) gene leads to loss of expression of FMRP and upregulated metabotropic glutamate receptor 5 (mGluR5) signaling resulting in the multiple physical and cognitive deficits associated with fragile X syndrome (FXS). 25956630 2015
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.100 Biomarker disease BEFREE White matter disease and cognitive impairment in FMR1 premutation carriers. 25925982 2015
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.100 Biomarker disease BEFREE Treatment with Nutlin-3, a small molecule undergoing clinical trials for treating cancer, specifically inhibited the interaction of MDM2 with P53, and rescued neurogenic and cognitive deficits in FMRP-deficient mice. 27122614 2016