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: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 Biomarker disease BEFREE However, the biomarkers that have been identified suggest that the Fmr1 KO model could potentially be useful in the study of schizophrenia. 30176067 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 Biomarker disease BEFREE Interestingly, gene sets previously implicated in SCZ (i.e., post-synaptic density (PSD) proteins, voltage-gated calcium channels (VGCCs), and fragile X mental retardation protein (FMRP) targets) were found significantly enriched in genes carrying IBD<sub>risk</sub> variants. 29411265 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 GeneticVariation disease BEFREE We also found that many of the diverse gene sets previously associated with schizophrenia (genes involved in synaptic function, those encoding mRNAs that interact with FMRP, antipsychotic targets, etc.) generally implicated the same brain cell types. 29785013 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 AlteredExpression disease BEFREE These results provide evidence for a potential mechanism to explain altered FMRP expression in schizophrenia. 28902714 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 GeneticVariation disease BEFREE Mutation intolerant genes and targets of FMRP are enriched for nonsynonymous alleles in schizophrenia. 28719003 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 GeneticVariation disease BEFREE Notably, Top3β proteins bearing point mutations from schizophrenia and autism individuals are defective in association with FMRP; whereas one of the mutants is also deficient in binding mRNAs, catalyzing RNA topoisomerase reaction, and promoting synapse formation. 28039324 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 Biomarker disease BEFREE This gene-set has also been linked to Schizophrenia suggesting that FMRP-targeted transcripts might be involved in a general mechanism with shared genetic etiology between psychiatric disorders. 28422133 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 Biomarker disease BEFREE FMRP targets and postsynaptic density genes, each implicated in schizophrenia, were significantly overrepresented among differentially expressed genes (DEGs). 26824476 2016
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 Biomarker disease BEFREE Our results provide further evidence that proteins involved in the FMRP-mGluR5 signaling pathway are altered in schizophrenia and mood disorders. 25956630 2015
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 AlteredExpression disease BEFREE Pathways implicated in schizophrenia were upregulated in the 48 h findings (major histocompatibility complex, synapses, FMRP interacting RNAs and calcium channels). 24984191 2014
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 Biomarker disease BEFREE A major research priority has been the identification of the mRNA targets of FMRP, particularly as recent studies suggest an excess of FMRP targets among genes implicated in idiopathic autism and schizophrenia. 24876161 2014
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 GeneticVariation disease BEFREE LGD targets in the joint class overlap with published targets for intellectual disability and schizophrenia, and are enriched for chromatin modifiers, FMRP-associated genes and embryonically expressed genes. 25363768 2014
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 Biomarker disease PSYGENET We observed multiple statistically significant mRNA and protein changes in levels of GABRθ, GABRρ2, mGluR5 and FMRP molecules including concordant reductions in mRNA and proteins for GABRθ and mGluR5 in lateral cerebella of subjects with schizophrenia; for increased mRNA and protein for GABRρ2 in lateral cerebella of subjects with bipolar disorder; and for reduced mRNA and protein for mGluR5 in BA9 of subjects with bipolar disorder. 23778581 2013
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 Biomarker disease BEFREE These results raise the possibility of impaired translation of FMR1 mRNA, altered epigenetic regulation, or increased degradation of FMRP in schizophrenia, which may play a role in dysfunctional neurodevelopmental processes and impaired neuroplasticity. 23333116 2013
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 AlteredExpression disease BEFREE We observed multiple statistically significant mRNA and protein changes in levels of GABRθ, GABRρ2, mGluR5 and FMRP molecules including concordant reductions in mRNA and proteins for GABRθ and mGluR5 in lateral cerebella of subjects with schizophrenia; for increased mRNA and protein for GABRρ2 in lateral cerebella of subjects with bipolar disorder; and for reduced mRNA and protein for mGluR5 in BA9 of subjects with bipolar disorder. 23778581 2013
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 Biomarker disease PSYGENET These results raise the possibility of impaired translation of FMR1 mRNA, altered epigenetic regulation, or increased degradation of FMRP in schizophrenia, which may play a role in dysfunctional neurodevelopmental processes and impaired neuroplasticity. 23333116 2013
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 GeneticVariation disease BEFREE We conclude that although mutations within the FMR-1 gene do not have a major aetiological role in schizophrenia in our collection of pedigrees, it is possible that FMR-1 mutations can modify the clinical phenotype of schizophrenia. 8840394 1996
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 Biomarker disease BEFREE Patients diagnosed using DSM-III-R criteria as having schizophrenia and other related disorders (n = 128) were assessed for CGG trinucleotide repeat expansion in the fragile X mental retardation 1 (FMR-1) gene. 8750357 1995