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: C0009241
Disease: Cognition Disorders
Cognition Disorders
0.400 Biomarker group 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: C0009241
Disease: Cognition Disorders
Cognition Disorders
0.400 AlteredExpression group 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: C0009241
Disease: Cognition Disorders
Cognition Disorders
0.400 AlteredExpression group 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: C0009241
Disease: Cognition Disorders
Cognition Disorders
0.400 Biomarker group BEFREE Despite extensive research, it is unclear how FMRP deficiency contributes to the cognitive deficits in FXS. 21516088 2011
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders
0.400 Biomarker group CTD_human Fragile x syndrome. 22043169 2011
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders
0.400 Biomarker group BEFREE We find FMRP-associated genes are under greater purifying selection than the remainder of genes and suggest they are especially dosage-sensitive targets of cognitive disorders. 22542183 2012
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders
0.400 GeneticVariation group 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: C0009241
Disease: Cognition Disorders
Cognition Disorders
0.400 Biomarker group 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: C0009241
Disease: Cognition Disorders
Cognition Disorders
0.400 GeneticVariation group BEFREE There was not an increased frequency of FMR1 expansions in individuals with cognitive disorders, including AD, compared with control subjects. 24958193 2014
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders
0.400 AlteredExpression group 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: C0009241
Disease: Cognition Disorders
Cognition Disorders
0.400 Biomarker group 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
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders
0.400 GeneticVariation group BEFREE Carriers of a FMR1 premutation allele (between 55 and 199 CGG repeats) are at risk of developing a wide range of medical, psychiatric and cognitive disorders, including executive dysfunction. 28689930 2017
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders
0.400 Biomarker group BEFREE Reducing histone acetylation rescues both neurogenesis and cognitive deficits in mature adult FMRP-deficient mice. 29950602 2018
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders
0.400 Biomarker group BEFREE Loss of the fragile X mental retardation protein, FMRP, engenders molecular, behavioral, and cognitive deficits in FXS patients. 30365357 2019