FMR1, FMRP translational regulator 1, 2332

N. diseases: 346; N. variants: 10
Disease: Autistic Disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE These contain many RNA-binding proteins, including the Fragile X Mental Retardation Protein (FMRP), the absence of which results in Fragile X Syndrome, the most common inherited form of intellectual disability and the leading genetic cause of autism. 27462983 2016
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker disease BEFREE As a result, the loss of FMRP impairs these signaling controls and eventually causes FXS-associated disorders, such as autism and mental retardation. 26663181 2015
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker disease BEFREE Our laboratory has recently demonstrated altered expression of four downstream targets of FMRP-mGluR5 signaling in brains of subjects with autism: homer 1, amyloid beta A4 precursor protein (APP), ras-related C3 botulinum toxin substrate 1 (RAC1), and striatal-enriched protein tyrosine phosphatase (STEP). 25956630 2015
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE In this study, we evaluated 203 Thai children who met the criteria of the Diagnostic and Statistical Manual of Mental Disorders, 4th edition (DSM-IV), for autistic disorder or pervasive developmental disorder not otherwise specified (PDD-NOS), and who had neither major dysmorphic features nor CGG repeat expansions of the FMR1 gene. 25171325 2014
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE We identify FAM120C as a novel X-linked candidate gene for autism for two reasons: first, a larger deletion encompassing FAM120C segregates with autism in a previously reported family and second, there is recent evidence that FAM120C interacts with CYFIP1, part of the FMRP (Fragile X Mental Retardation Protein) network. 25258334 2014
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 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: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE Identification of expanded alleles of the FMR1 Gene in the CHildhood Autism Risks from Genes and Environment (CHARGE) study. 22767137 2013
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 AlteredExpression disease BEFREE Previous work by our laboratory has found reduced expression of FMRP, as well as multiple GABAA and GABAB receptor subunits in subjects with autism. 23778581 2013
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker disease BEFREE The activity-dependent transcription factor myocyte enhancer factor 2 (MEF2) induces excitatory synapse elimination in mouse neurons, which requires fragile X mental retardation protein (FMRP), an RNA-binding protein implicated in human cognitive dysfunction and autism. 23260144 2012
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE 15q11.2 microdeletion and FMR1 premutation in a family with intellectual disabilities and autism. 22842191 2012
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE The early detection of premutation carriers for the FMR1 gene among individuals diagnosed with fibromyalgia is important and would be helpful in correct genetic counseling of patients and their families, who may be at risk of having children with fragile X syndrome, the most common known cause of inherited intellectual disability and autism. 22903700 2012
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE Women who were carriers of FMR1 in its premutation state were compared with mothers of individuals with autism, and controls in an attempt to determine whether subtle features of the broad autism phenotype may express at elevated rates among FMR1 premutation carriers. 22693142 2012
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism. 21784246 2011
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 AlteredExpression disease BEFREE Altered expression of several autism candidate genes such as FMR-1 and MECP2, could be detected in leukocytes. 21935445 2011
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker disease BEFREE In this review we discuss the mutation in the fragile X mental retardation-1 gene (FMR1), that leads to FXS, the role FMRP plays in neuronal cells, experiments from our own laboratory that demonstrate reductions of FMRP in additional psychiatric disorders (autism, schizophrenia, bipolar disorder, and major depressive disorder), and potential therapies to ameliorate the loss of FMRP. 21108954 2011
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE This finding indicates that the length of the CGG repeat within the FMR1 is unlikely to be responsible for autism in Japanese. 19211207 2010
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE Two different mutations in the FMR1 gene may lead to autism. 20643379 2010
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker disease CTD_human FMR1 gene expansion, large deletion of Xp, and skewed X-inactivation in a girl with mental retardation and autism. 20425835 2010
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE FMR1 gene expansion, large deletion of Xp, and skewed X-inactivation in a girl with mental retardation and autism. 20425835 2010
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker disease BEFREE Absence of the associated protein FMRP leads to the dysregulation of many genes creating a phenotype of ADHD, anxiety, epilepsy and autism. 19724010 2009
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker disease BEFREE EIF4E mediated translation is the final common process modulated by the mammalian target of rapamycin (mTOR), PTEN and fragile X mental retardation protein (FMRP) pathways, which are implicated in autism. 19556253 2009
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 AlteredExpression disease BEFREE Because it has been observed that brain metabolism of FMR1 null mice is more sensitive to oxidative stress, we propose that the deregulation of Sod1 expression may be at the basis of several traits of the physiopathology of the Fragile X syndrome, such as anxiety, sleep troubles, and autism. 19166269 2009
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker disease CTD_human Identifying autism loci and genes by tracing recent shared ancestry. 18621663 2008
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker disease BEFREE We also emphasize that FXS offers a unique molecular model for autism since FMRP regulates the translation of many other genes involved in synaptic formation and plasticity which should be natural targets for further exploration. 17097142 2007
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE We identified 68 genes that were dysregulated in common between autism with FMR1-FM and dup(15q). 17519220 2007