FMR1, FMRP translational regulator 1, 2332

N. diseases: 346; N. variants: 10
Disease: Fragile X chromosome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432482
Disease: Fragile X chromosome
Fragile X chromosome 		0.020 GeneticVariation disease BEFREE These data demonstrate the excision of the expanded CGG-repeat from the fragile X chromosome can result in FMR1 reactivation. 27768763 2016
CUI: C0432482
Disease: Fragile X chromosome
Fragile X chromosome 		0.020 GeneticVariation disease BEFREE We find the cytosine residue of all CpG dinucleotides examined within and surrounding the FMR1 trinucleotide repeat to be unmethylated in the DNA of normal male leukocytes and transmitting male lymphoblasts; these same cytosines are methylated in affected male lymphoblasts, in a somatic cell hybrid containing a fragile X chromosome from an affected male, and in a somatic cell hybrid containing a normal inactive X chromosome. 8268919 1993