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: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.500 Biomarker disease BEFREE Slack activity is enhanced by interaction with the Fragile-X-Mental-Retardation-Protein (FMRP) and loss of FMRP leads to decreased sodium-activated potassium currents in medial nucleus of the trapezoid body neurons of the Fmr1-knockout (KO) mouse representing a mouse model of the human Fragile-X-Syndrome (FXS) and autism. 29859980 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.500 GeneticVariation disease BEFREE We propose dividing syndromic autism into the following two groups: (i) ASD that occurs in the context of a clinically defined syndrome-recognizing these disorders depends on the familiarity of the clinician with the features of the syndrome, and the diagnosis is typically confirmed by targeted genetic testing (eg, mutation screening of FMR1); (ii) ASD that occurs as a feature of a molecularly defined syndrome-for this group of patients, ASD-associated variants are identified by genome-wide testing that is not hypothesis driven (eg, microarray, whole exome sequencing). 29398931 2017
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 AlteredExpression disease BEFREE CYFIP2, encoding the evolutionary highly conserved cytoplasmic FMRP interacting protein 2, has previously been proposed as a candidate gene for intellectual disability and autism because of its important role linking FMRP-dependent transcription regulation and actin polymerization via the WAVE regulatory complex (WRC). 30664714 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.500 Biomarker disease BEFREE Importantly, we validated that elevating neural network activity requires protein translation and is dependent on fragile X mental retardation protein (FMRP), the protein that is deficient in the most common inherited form of mental retardation and autism, fragile X syndrome (FXS). 29016848 2017
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.500 GeneticVariation disease BEFREE Fragile X Syndrome (FXS) is the main genetic cause of autism and intellectual deficiency resulting the absence of the Fragile X Mental Retardation Protein (FMRP). 28334053 2017
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.500 AlteredExpression disease BEFREE Fragile X syndrome (FXS) is a common neurodevelopmental disease that often co-occurs with autism and is caused by the lack of fragile X mental retardation protein (FMRP) expression. 30056576 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.500 GeneticVariation disease BEFREE The functional absence of FMRP causes the fragile X syndrome (FXS), the most common form of inherited intellectual disability and the most common monogenic cause of autism. 30137253 2019
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
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 GeneticVariation disease BEFREE The fragile X syndrome (FXS) arises from loss of expression or function of the FMR1 gene and is one of the most common monogenic forms of intellectual disability and autism. 29796988 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.500 Biomarker disease BEFREE This immunocytochemical study revealed neuronal FMRP deficits and shrinkage of deficient neurons in the cerebral cortex, subcortical structures, and cerebellum in subjects with idiopathic and dup(15)/autism. 30107092 2018
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 Biomarker disease BEFREE Since the absence of FMRP leads to Fragile X Syndrome (FXS) and autism, FMRP has been extensively studied in brain. 30686771 2019
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 GeneticVariation disease BEFREE Twenty-two members of 18 families with autism have been examined for the presence of mutations and abnormal methylation in the FMR-1 region at Xq27.3. 1481857 1992
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 Biomarker disease BEFREE The mechanism of pathogenesis contributing significantly to our patient's clinical findings may relate to interaction between TOP3B and fragile X mental retardation protein (FMRP), an mRNA-binding protein that regulates translation and is altered in fragile X syndrome, a condition involving developmental delay, learning disability, and autism. 27880953 2016
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.500 Biomarker disease BEFREE The fragile X mental retardation 1 gene (FMR1)-related disorder fragile X syndrome (FXS) is the most common heritable form of cognitive impairment and the second most common cause of comorbid autism. 30084485 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.500 Biomarker disease BEFREE These results enable us to reject the hypothesis that multiplex autism arises from expansion of the (CGG)n trinucleotide repeat in FMR-1.(ABSTRACT TRUNCATED AT 250 WORDS) 7977358 1994
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 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 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 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