Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
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0.080 | AlteredExpression | group | BEFREE | This gene has previously been implicated in intellectual disability and is apparently linked to FMR1 and NEFH overexpression associated with neurological disorders. | 30567555 | 2018 | ||||
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0.080 | GeneticVariation | group | BEFREE | Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurological disorder that affects premutation carriers with 55-200 CGG-expansion repeats (preCGG) in FMR1, presenting with early alterations in neuronal network formation and function that precede neurodegeneration. | 28444183 | 2017 | ||||
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0.080 | Biomarker | group | BEFREE | Together, these data suggest a novel function of FMRP in the regulation of pre-mRNA alternative splicing through RBM14 that may be associated with normal brain function and FMRP-related neurological disorders. | 28257890 | 2017 | ||||
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0.080 | GeneticVariation | group | BEFREE | Epigenetic modifications of the fragile X mental retardation 1 (<i>FMR1</i>) gene locus may impact the risk for reproductive and neurological disorders associated with expanded trinucleotide repeats and methylation status in the 5' untranslated region. | 27980694 | 2016 | ||||
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0.080 | Biomarker | group | BEFREE | Here, we review translational control by the fragile X mental retardation protein (FMRP), the absence of which causes the neurological disease, fragile X syndrome (FXS). | 25701550 | 2015 | ||||
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0.080 | Biomarker | group | BEFREE | Lack of FMR1 causes the most common neurological disorder, fragile X syndrome, while its overexpression is associated with metastasis of breast cancer. | 25268320 | 2014 | ||||
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0.080 | GeneticVariation | group | BEFREE | Mutations in the FMRP protein have been associated with neurological disease as have a number of its mRNA-binding targets. | 25215498 | 2014 | ||||
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0.080 | GeneticVariation | group | BEFREE | Recently, Hagerman et al described the occurrence of a late-onset neurological disorder in five male carriers of the fragile-X (FMR-1) premutation. | 15483640 | 2005 |