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 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 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 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 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 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 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 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 LHGDN Although uncommon, point mutations in the FMR1 gene may be a cause of autism and mental retardation in Japanese patients. 15000256 2004
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 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
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.500 GeneticVariation disease BEFREE Twenty individuals reported previously with rare missense or nonsense mutations or other coding disturbances of the FMR1 gene ranged in age from infancy to 50 years; most were verbal with limited speech, had autism and hyperactivity, and all had intellectual disability. 29178241 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.500 GeneticVariation disease BEFREE Fragile X syndrome (FXS) results from a repeat expansion mutation near the FMR1 gene promoter and is the most common form of heritable intellectual disability and autism. 28173181 2016
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 GeneticVariation disease BEFREE Fragile X syndrome (FXS), caused by the loss of functional FMRP, is a leading cause of autism. 28218269 2017
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.500 GeneticVariation disease BEFREE FXS is caused by a deficiency of the FMR1 protein (FMRP) leading to dysregulation of many genes that create a phenotype with ADHD, anxiety, and autism. 16511373 2006
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.500 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: 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 GeneticVariation disease BEFREE The base change is at a position where it is unlikely to affect splicing of the FMR-1 transcript and is most likely a neutral variant that has only a spurious false positive association with autism. 9118347 1996
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.500 GeneticVariation disease BEFREE Studies of the FMR1 gene on Xq27 have shown that occasionally individuals, and particularly females, with the [CGG] repeat expansion and methylation mutation may present with autistic symptoms. 14755444 2004
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.500 GeneticVariation disease BEFREE Fragile X mental retardation protein (FMRP) loss causes Fragile X syndrome (FXS), a major disorder characterized by autism, intellectual disability, hyperactivity, and seizures. 28887386 2017
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.500 GeneticVariation disease BEFREE Here, we showed that the homeostatic synaptic downscaling is absent in the hippocampal neurons of Fmr1 KO mice, the mouse model of the most common inherited autism, fragile X syndrome (FXS). 29771335 2018
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 GeneticVariation disease BEFREE 15q11.2 microdeletion and FMR1 premutation in a family with intellectual disabilities and autism. 22842191 2012