FMR1, FMRP translational regulator 1, 2332

N. diseases: 346; N. variants: 10
Disease: Fragile X Syndrome ×
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 Biomarker disease GENOMICS_ENGLAND
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 Biomarker disease BEFREE The fragile-X syndrome of mental retardation is associated with an expansion in the number of CGG repeats present in the FMR1 gene. 1301165 1992
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 PosttranslationalModification disease BEFREE DNA methylation represses FMR-1 transcription in fragile X syndrome. 1301913 1992
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 GeneticVariation disease BEFREE This finding confirms that the fragile X phenotype can exist, without amplification of the CCG repeat or cytogenetic expression of the fragile X, and that fragile X syndrome is a genetically homogeneous disorder involving FMR1. 1302032 1992
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 Biomarker disease BEFREE The mother shows a premutation (small unmethylated insertion) in her FMR-1 gene as the sole manifestation of the fragile X syndrome. 1307252 1992
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 GeneticVariation disease BEFREE The mutation that underlies the fragile X syndrome is presumed to be a large expansion in the number of CGG repeats within the gene FMR-1. 1427787 1992
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 GeneticVariation disease BEFREE Population genetics of the fragile-X syndrome: multiallelic model for the FMR1 locus. 1570349 1992
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 Biomarker disease BEFREE These recombination events were used to define the position of Fmr-1, the murine homologue of FMR1, which is the gene implicated in the fragile X syndrome in man, and that of DXS296h, the murine homologue of DXS296. 1572655 1992
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 The fragile X [fra(X)] syndrome is the most frequent form of inherited mental retardation, and co-segregates with a fragile site at Xq27.3 as well as with insertion of a variable number of trinucleotide repeats in the 5'-end of the FMR-1 gene. 1605199 1992
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 GeneticVariation disease BEFREE These data support the hypothesis that loss of function of the FMR-1 gene leads to the clinical phenotype of the fragile-X syndrome. 1642231 1992
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 Biomarker disease CLINGEN Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. 1675488 1991
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 CausalMutation disease CLINVAR Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. 1710175 1991
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 AlteredExpression disease BEFREE Localization of the brain-expressed FMR-1 gene to this EcoRI fragment suggests the involvement of this gene in the phenotypic expression of the fragile X syndrome. 1710175 1991
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 AlteredExpression disease BEFREE To study the involvement of the FMR-1 gene in the fragile X syndrome, its expression was studied in lymphoblastoid cell lines and leukocytes derived from patients and normal controls. 1878973 1991
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 GeneticVariation disease BEFREE Fragile X syndrome is associated with an unstable repeated CGG trinucleotide sequence in the 5' untranslated region of the FMR-1 gene. 7485265 1995
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 Biomarker disease BEFREE FXR1 and FXR2 are thus likely to play important roles in the function of FMR1 and in the pathogenesis of the Fragile X Mental Retardation Syndrome. 7489725 1995
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 GeneticVariation disease BEFREE For example, mutations affecting the FMR1 gene cause the fragile X syndrome, the most prevalent known inherited cause of intellectual dysfunction. 7581460 1995
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 GeneticVariation disease BEFREE These findings suggest that the FMR-1 mutation causing the fragile X syndrome leads to observable changes in neuroanatomy that may be relevant to the neurodevelopmental disability and behavioural problems observed in affected individuals. 7585014 1995
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 CausalMutation disease CLINVAR The fragile X syndromes. 7620122 1995
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 Biomarker disease BEFREE The identity of these proteins was confirmed by their absence in tissues from patients with the fragile X syndrome and a FMR1 knock-out mouse. 7633450 1995
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 GeneticVariation disease UNIPROT The identity of these proteins was confirmed by their absence in tissues from patients with the fragile X syndrome and a FMR1 knock-out mouse. 7633450 1995
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 Biomarker disease BEFREE The molecular mechanism of the fragile X syndrome is based on the expansion of an CGG repeat in the 5' UTR of the FMR1 gene in the majority of fragile X patients. 7668289 1995
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 GeneticVariation disease BEFREE We report here the identification of two different intragenic loss of function mutations in FMR1: a single de novo nucleotide deletion in a young male patient (IJ) and an inherited two basepair change in an Adult male (SD), each with classical features of fragile X syndrome. 7670500 1995
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 Biomarker disease CLINGEN We report here the identification of two different intragenic loss of function mutations in FMR1: a single de novo nucleotide deletion in a young male patient (IJ) and an inherited two basepair change in an Adult male (SD), each with classical features of fragile X syndrome. 7670500 1995