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: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 GeneticVariation disease BEFREE This finding is in agreement with the hypothesis that the incidence of intermediate FMR1 alleles in MRX populations does not seem to be higher than in control populations, and it emphasizes the importance of FMRP detection as a diagnostic tool for fragile X syndrome. 11030419 2000
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 GeneticVariation disease BEFREE Differential epigenetic modifications in the FMR1 gene of the fragile X syndrome after reactivating pharmacological treatments. 15741991 2005
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 GeneticVariation disease BEFREE Fragile X syndrome (FXS), the most common cause of inherited mental impairment, is most commonly related to hyperexpansion and hypermethylation of a polymorphic CGG trinucleotide repeat in the 5' untranslated region of the FMR1 gene. 16793928 2006
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 GeneticVariation disease BEFREE Hairpin and tetrahelical structures of a d(CGG)(n) sequence in the FMR1 gene have been implicated in its expansion in fragile X syndrome. 10924524 2000
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 GeneticVariation disease BEFREE Fragile X Syndrome (FXS) is the leading cause of autism spectrum disorder and intellectual disability and results from loss of Fragile X mental retardation protein (FMRP). 29128904 2018
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 GeneticVariation disease BEFREE We examined autistic behavior in a cross-sectional sample of 179 children with fragile X syndrome (FXS) and a longitudinal subset of 116 children using the Childhood Autism Rating Scale (CARS) to (a) determine a prevalence of autistic behavior in FXS, (b) examine the stability of autistic ratings over time, and (c) assess the association between the fragile X mental retardation protein (FMRP) and autistic behavior. 16700053 2006
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 GeneticVariation disease BEFREE Recurrent and unexpected segregation of the FMR1 CGG repeat in a family with fragile X syndrome. 8834253 1996
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 GeneticVariation disease BEFREE In this study, 40 families segregating for fragile X [fra (X)] syndrome were examined for the presence of a mutation within the FMR-1 gene. 1605198 1992
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 GeneticVariation disease BEFREE Fragile X syndrome is associated with massive expansion of a CGG trinucleotide repeat within the FMR-1 gene and transcriptional silencing of the gene due to abnormal methylation. 8358432 1993
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 GeneticVariation disease BEFREE Fragile X syndrome (FXS) and associated disorders are caused by expansion of the cytosine-guanine-guanine (CGG) trinucleotide repeat in the 5' untranslated region (UTR) of the Fragile X mental retardation-1 (FMR1) gene promoter. 31566610 2019
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 GeneticVariation disease BEFREE Identification of the FMR1 gene and the repeat-amplification mechanism causing fragile X syndrome led to development of reliable DNA-based diagnostic methods, including Southern blot hybridization and PCR. 10364521 1999
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 GeneticVariation 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: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 GeneticVariation disease BEFREE The fragile X syndrome is caused by the amplification of a polymorphic CGG repeat in the 5' untranslated region of the FMR1 gene and is the most common form of inherited mental retardation. 9211186 1997
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 GeneticVariation disease BEFREE This mechanism is entirely different from the mechanism giving rise to fragile X syndrome, which is due to transcriptional silencing and consequent loss of FMR1 protein. 19794313 2009
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 GeneticVariation disease BEFREE DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene. 7943024 1994
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 GeneticVariation disease BEFREE The Fragile X-Related 1 gene (FXR1) is a paralog of the Fragile X Mental Retardation 1 gene (FMR1), whose absence causes the Fragile X syndrome, the most common form of inherited intellectual disability. 23555284 2013
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 GeneticVariation disease BEFREE Rare variants in the promoter of the fragile X syndrome gene (FMR1). 10799273 2000
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 GeneticVariation disease BEFREE FXS is a trinucleotide repeat disorder, in which >200 repeats of the CGG motif in FMR1 leads to silencing of the gene and the consequent loss of its product, fragile X mental retardation 1 protein (FMRP). 28960184 2017
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 GeneticVariation disease BEFREE Fragile X syndrome (FXS), caused by a trinucleotide expansion (>200 CGG repeats) in the fragile X mental retardation gene (FMR1), is currently not included in newborn screening (NBS) panels in the United States as it does not meet the standards for recommendation. 24395328 2014
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 GeneticVariation disease BEFREE FMR1 mutation testing is increasingly being offered to women without known risk factors, and newborn screening for FXS is underway in research-based pilot studies. 22797890 2012
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 GeneticVariation disease BEFREE In patient-derived lymphoblasts and fibroblasts, we determined by chromatin immunoprecipitation that there is increased acetylation of histones at the FMR1 locus in pre-mutation carriers compared to control or FXS derived cell lines. 21170301 2010
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 GeneticVariation disease BEFREE We report on the allele distributions in a normal black African population at two microsatellite loci neighbouring the FRAXA locus and at the CGG repeat in the 5' end of the FMR-1 gene, which causes the fragile X syndrome. 8826479 1996
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 GeneticVariation disease BEFREE Fragile X syndrome is the result of the unstable expansion of a trinucleotide repeat in the 5'-untranslated region of the FMR1 gene. 7732383 1995
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 GeneticVariation disease BEFREE Its expansion in the human FMR1 gene leads to the fragile X syndrome, one of the most frequent causes of mental retardation in human males. 8626781 1996
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 GeneticVariation disease BEFREE Fragile X syndrome (FXS), the most common form of inherited intellectual disability, is due to the functional deficiency of the fragile X mental retardation protein (FMRP), an RNA-binding protein involved in translational regulation of many messenger RNAs, playing key roles in synaptic morphology and plasticity. 29668986 2018