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 Biomarker disease GENOMICS_ENGLAND
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 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 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 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 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 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 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 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 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 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 PosttranslationalModification disease BEFREE High resolution methylation analysis of the FMR1 gene trinucleotide repeat region in fragile X syndrome. 8268919 1993
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 PosttranslationalModification disease BEFREE In the case of fragile X syndrome, sequences adjacent to the repeat are methylated in affected individuals and the FMR1 gene is transcriptionally inactive. 8242066 1993
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 AlteredExpression disease BEFREE Tissue specific expression of FMR-1 provides evidence for a functional role in fragile X syndrome. 8490651 1993
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 GeneticVariation disease UNIPROT Fragile X mental retardation syndrome is caused by the unstable expansion of a CGG repeat in the FMR-1 gene. 8401578 1993
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 Biomarker disease BEFREE Association of fragile X syndrome with delayed replication of the FMR1 gene. 8324827 1993
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 PosttranslationalModification disease BEFREE The results described here indicate that some "nonpenetrant" carrier males may have varying amounts of methylation of the FMR-1 region, which can result in mild expression of the fragile X syndrome. 8213810 1993
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 Biomarker disease CLINGEN The early transcription of FMR-1 gene and the distribution of FMR-1 mRNAs in human fetuses suggest that alterations of FMR-1 gene expression may contribute to the pathogenesis of fragile-X syndrome and especially the mental retardation. 8348153 1993
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 Biomarker disease CLINGEN Tissue specific expression of FMR-1 provides evidence for a functional role in fragile X syndrome. 8490651 1993
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 Biomarker disease CLINGEN Fragile X mental retardation syndrome is caused by the unstable expansion of a CGG repeat in the FMR-1 gene. 8401578 1993