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 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 GeneticVariation group BEFREE Fragile X syndrome (FXS), the most common cause of inherited intellectual disability, is due to the expansion over 200 CGGs and methylation of this polymorphic region, in the 5'-UTR (untranslated region) of FMR1 (Xq27.3). 27784894 2017
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 AlteredExpression group BEFREE The fragile X syndrome (FRAXA) is the most widespread heritable form of mental retardation caused by the lack of expression of the fragile X mental retardation protein (FMRP). 18616611 2008
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 GeneticVariation group BEFREE Fragile X syndrome is the most common inherited form of intellectual disability and results from a loss of function of the translational repressor FMRP. 27273094 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 GeneticVariation group BEFREE Loss of function of the FMR1 gene leads to fragile X syndrome (FXS), the most common form of intellectual disability. 25693964 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group BEFREE The loss of FMRP causes dysregulation of many neuronal pathways and results in an intellectual disability disorder, fragile X syndrome (FXS). 30759772 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 GeneticVariation group BEFREE Fragile X syndrome (FXS), the most common inherited intellectual disability syndrome, is caused by expansion and hypermethylation of the CGG repeat in the 5' UTR of the FMR1 gene. 25953684 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group BEFREE Loss of fragile X mental retardation protein (FMRP) causes synaptic dysfunction and intellectual disability. 24062571 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 GeneticVariation group BEFREE In fragile X syndrome, the most common genetic form of mental retardation, a CGG trinucleotide-repeat expansion adjacent to the fragile X mental retardation 1 (FMR1) gene promoter results in its epigenetic silencing. 24578575 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 GeneticVariation group BEFREE Women who develop primary ovarian insufficiency related to a premutation in FMR1 are at risk of having a child with fragile X syndrome, the most common cause of inherited intellectual disability. 27827529 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 GeneticVariation group 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: 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 Fragile X syndrome (FXS), caused by silencing of the Fmr1 gene, is the most common form of inherited mental retardation. 18832330 2009
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 GeneticVariation group BEFREE Fragile X syndrome is caused by mutations in the FMR1 gene and is one of the most frequent forms of inherited mental retardation in males. 9132500 1997
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 GeneticVariation group 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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 PosttranslationalModification group BEFREE Hypermethylation of the FMR1 promoter reduces its transcriptional activity, resulting in the mental retardation and macroorchidism characteristic of Fragile X syndrome. 11058604 2001
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group BEFREE Two brothers were discordant for the region containing the FMR1 gene; if there is a common cause for the mental retardation this is not located in the FMR1 gene. 7942992 1994
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group BEFREE In patients with fragile X syndrome, the expanded CGG triplet repeats are hypermethylated and the expression of the FMR1 gene is repressed, which leads to the absence of FMR1 protein (FMRP) and subsequent mental retardation. 10767313 2000
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 GeneticVariation group BEFREE Fragile X syndrome is the most common inherited etiology of intellectual disability and results from a full mutation or >200 CGG repeats in FMR1. 29325626 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 GeneticVariation group BEFREE FRAXA coincides with a >200 CGG*CCG repeat tract in the 5' UTR of the FMR1 gene, and alleles prone to fragility are associated with Fragile X (FX) syndrome, one of the leading genetic causes of intellectual disability. 19465392 2009
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 GeneticVariation group BEFREE The fragile X mental retardation protein (FMRP) is lacking or mutated in patients with the fragile X syndrome (FXS), the most frequent form of inherited intellectual disability. 29144507 2017
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 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 Biomarker group LHGDN The active FMR1 promoter is associated with a large domain of altered chromatin conformation with embedded local histone modifications. 16891414 2006