FMR1, FMRP translational regulator 1, 2332

N. diseases: 346; N. variants: 10
Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group BEFREE <b>Methodology</b>: The present study utilizes Triplet Primed-Polymerase Chain Reaction (TP-PCR) methodology for detecting the repeat expansion at FMR1 gene in 233 Indian intellectual disability/developmental delay (ID/DD) patients. 31159589 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 GeneticVariation group BEFREE 15q11.2 microdeletion and FMR1 premutation in a family with intellectual disabilities and autism. 22842191 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 GeneticVariation group BEFREE FMR1 is an RNA-binding protein that is either absent or mutated in patients affected by the fragile X syndrome, the most common inherited cause of mental retardation in humans. 10496225 1999
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 GeneticVariation group BEFREE FMR1 premutation alleles uniquely produce FMR1 transcripts with an elongated CGG repeat, leading to the hypothesis that premutant transcripts cause the neurodegenerative disease in carriers.Recently Jin et al. demonstrated, in Drosophila, that FMR1 premutation RNA causes neurodegeneration. 15111000 2004
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group CTD_human FMR1 gene expansion, large deletion of Xp, and skewed X-inactivation in a girl with mental retardation and autism. 20425835 2010
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 GeneticVariation group BEFREE FMR1 gene expansion, large deletion of Xp, and skewed X-inactivation in a girl with mental retardation and autism. 20425835 2010
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 AlteredExpression group BEFREE FMR1 mRNA levels are elevated in FXPM, and it is thought that clinical symptoms might be caused by a toxic gain of function due to elevated FMR1 mRNA. 25290064 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 AlteredExpression group BEFREE FMRP loss is phenocopied by conditional removal of FMRP only during this critical period, and rescued by FMRP conditional expression only during this critical period. 29375303 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 GeneticVariation group BEFREE Fragile X mental retardation 1 (FMR1) CGG repeat expansions cause fragile X syndrome-the leading monogenic form of intellectual disability-and increase the risk for fragile X-associated tremor ataxia syndrome and fragile X-associated primary ovarian insufficiency. 30847793 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group BEFREE A 6-year experience demonstrates the utility of screening for both cytogenetic and FMR-1 abnormalities in patients with mental retardation. 10495929 1999
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 GeneticVariation group BEFREE A global loss of the fragile X mental retardation protein (FMRP; encoded by the Fmr1 gene) leads to sensory dysfunction and intellectual disabilities. 29950504 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 GeneticVariation group BEFREE A patient with mental retardation of unknown origin showed absence of digestion for Eag I due to a -149C-->G substitution in the CpG island of the FMR1 gene, which destroys that restriction enzyme site. 10799273 2000
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 GeneticVariation group BEFREE A point mutation in the FMR-1 gene associated with fragile X mental retardation. 8490650 1993
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 GeneticVariation group BEFREE A total of 321 patients with nonspecific MR were screened for the FMR1 and FMR2 mutation. 10850542 2000
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group BEFREE Aberrant MMP activity is implicated in fragile X syndrome (FXS), a disease caused by the loss of the RNA-binding protein FMRP and characterized by neurological dysfunction and intellectual disability. 29114039 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group BEFREE Absence of the FMR1 protein results in mental retardation. 12136110 2002
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 GeneticVariation group BEFREE AGG interspersion analysis of the FMR1 CGG repeats in mental retardation of unspecific cause. 16337617 2006
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group LHGDN AGG interspersion analysis of the FMR1 CGG repeats in mental retardation of unspecific cause. 16337617 2006
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group BEFREE All four patients have epilepsy and a more severe degree of mental retardation than is usual in fragile X syndrome resulting from FMR1 triplet repeat expansion. 10424820 1999
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 GeneticVariation group LHGDN Although uncommon, point mutations in the FMR1 gene may be a cause of autism and mental retardation in Japanese patients. 15000256 2004
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group CTD_human Although uncommon, point mutations in the FMR1 gene may be a cause of autism and mental retardation in Japanese patients. 15000256 2004
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group 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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 GeneticVariation group BEFREE As shown by molecular cloning of the fragile X locus, Fragile X mutations are unstable expansions of a CGG trinucleotide repeat, located in the first exon (non-protein-coding) of the FMR1 gene (for Fragile X Mental Retardation). 15135801 2004
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 AlteredExpression group BEFREE Characteristics of fragile X syndrome include macroorchidism and intellectual disability, which are associated with decreased FMRP levels. 24903624 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group BEFREE Consequently, this knockout mouse may serve as a valuable tool in the elucidation of the physiological role of FMR1 and the mechanisms involved in macroorchidism, abnormal behavior, and mental retardation. 8033209 1994