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 The mutation or silencing of FMRP causes Fragile X syndrome (FXS), which leads to intellectual disability and social impairment. 26020477 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 GeneticVariation group BEFREE Fragile X syndrome (FXS) is the most common inherited form of intellectual disability caused by the CGG trinucleotide expansion in the 3'-untranslated region of the FMR1 gene on the X chromosome, that silences the expression of the Fragile X mental retardation protein (FMRP). 25406362 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 GeneticVariation group BEFREE Missense mutations in the FMR1 gene might account for a considerable proportion of cases in male patients with FXS-related symptoms, such as those linked to mental retardation and developmental delay. 25171808 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group BEFREE Here we will review the evidence for the occurrence of G-quadruplexes both in vitro and in vivo; their role in neurological diseases including G-quadruplex-forming repeat expansions in the C9orf72 gene in frontotemporal dementia and amyotrophic lateral sclerosis and loss of the G-quadruplex binding protein FMRP in the intellectual disability fragile X syndrome. 25979174 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 GeneticVariation group BEFREE Independent role for presynaptic FMRP revealed by an FMR1 missense mutation associated with intellectual disability and seizures. 25561520 2015
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 Biomarker group BEFREE Overall, 16p11.2 CNV was associated with altered expression of genes and networks that converge on multiple hypotheses of ASD pathogenesis, including synaptic function (e.g., NRXN1, NRXN3), chromatin modification (e.g., CHD8, EHMT1, MECP2), transcriptional regulation (e.g., TCF4, SATB2), and intellectual disability (e.g., FMR1, CEP290). 24906019 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 GeneticVariation group BEFREE LGD targets in the joint class overlap with published targets for intellectual disability and schizophrenia, and are enriched for chromatin modifiers, FMRP-associated genes and embryonically expressed genes. 25363768 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 GeneticVariation group BEFREE Fragile X syndrome (FXS) is the leading cause of inheritable intellectual disability in male children, and is predominantly caused by a single gene mutation resulting in expanded trinucleotide CGG-repeats within the 5' untranslated region of the fragile X mental retardation (FMR1) gene. 24942544 2014
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 GeneticVariation group BEFREE Mutations or deletions of FMRP, involved in the regulation of mRNA metabolism in brain, lead to the Fragile X syndrome (FXS), the most frequent form of inherited intellectual disability. 23527791 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 GeneticVariation group BEFREE Large expansions of a CGG-repeat element (>200 repeats; full mutation) in the fragile X mental retardation 1 (FMR1) gene cause fragile X syndrome (FXS), the leading single-gene form of intellectual disability and of autism spectrum disorder. 24463622 2014
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 GeneticVariation group BEFREE Fragile X Syndrome (FXS) is the most common form of inherited intellectual disability due to the silencing of the FMR1 gene encoding FMRP (Fragile X Mental Retardation Protein), an RNA-binding protein involved in different steps of RNA metabolism. 24462888 2014
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 Fragile X Syndrome (FXS), the most common inherited form of mental retardation, is caused by expansion of a CGG/CCG repeat tract in the 5'-untranslated region of the fragile X mental retardation (FMR1) gene, which changes the functional organization of the gene from euchromatin to heterochromatin. 24261641 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 GeneticVariation group BEFREE Fragile X Syndrome (FXS), the most common cause of familiar mental retardation, is associated in over 99% of cases to an expansion over 200 repeats of a CGG sequence in the 5' UTR of the FMR1 gene (Xq27.3), leading to the hypermethylation of the promoter. 23914933 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 GeneticVariation group BEFREE Fragile X syndrome, the leading inherited cause of mental retardation and autism spectrum disorders worldwide, is caused by a tandem repeat expansion in the FMR1 (fragile X mental retardation 1) gene. 23719910 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 GeneticVariation group BEFREE The CGG repeat within the premutation range in the fragile X mental retardation 1 (FMR1) gene can lead to neurodegenerative disorders and intellectual disabilities. 23739124 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 GeneticVariation group BEFREE The early detection of premutation carriers for the FMR1 gene among individuals diagnosed with fibromyalgia is important and would be helpful in correct genetic counseling of patients and their families, who may be at risk of having children with fragile X syndrome, the most common known cause of inherited intellectual disability and autism. 22903700 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 GeneticVariation group BEFREE Functional loss of FMRP causes the inherited intellectual disability fragile X syndrome (FXS), and leads to increased and stimulus-insensitive neuronal protein synthesis in FXS animal models. 22207187 2012
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 Fragile X syndrome (FXS), caused by loss of the Fragile X Mental Retardation 1 (FMR1) gene product (FMRP), is the most common heritable cause of intellectual disability and autism spectrum disorders. 22080836 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 GeneticVariation group BEFREE Fragile X syndrome, diagnosed by Fragile X Mental Retardation 1 (FMR1) DNA testing, is the most common single-gene cause of inherited intellectual disability. 23129072 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group BEFREE Distribution of CGG/GCC repeats at the FMR1 and FMR2 genes in an Indian population with mental retardation of unknown etiology. 21254876 2011