FMR1, FMRP translational regulator 1, 2332

N. diseases: 346; N. variants: 10
Disease: Mental Retardation, X-Linked ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.090 Biomarker disease BEFREE Beside FMR1, in families with X-linked mental retardation (XLMR), the ARX dysfunction was demonstrated to be among the most frequent causes of this heterogeneous group of disorders. 16523516 2006
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.090 GeneticVariation disease BEFREE Our data indicate that the frequency of SLC6A8 mutations in the XLMR population is close to that of CGG expansions in FMR1, the gene responsible for fragile-X syndrome. 15154114 2004
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.090 GeneticVariation disease BEFREE Fragile X syndrome, a form of X-linked mental retardation, results from the hyperexpansion of a CGG trinucleotide repeat located in the 5' untranslated region of the fragile X mental retardation (FMR1) gene. 11992259 2002
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.090 GeneticVariation disease BEFREE The study included only individuals with no family history of X-linked mental retardation or known FMR1 mutations. 11142761 2000
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.090 GeneticVariation disease BEFREE Fragile-X syndrome is due to an expression of CGG trinucleotide repeats in the 5' untranslated region of the FMR1 gene and it is the most common cause of heritable X-linked mental retardation. 10495931 1999
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.090 Biomarker disease BEFREE Fragile X syndrome is an X-linked mental retardation condition that usually is due to a trinucleotide-repeat expansion in the FMR1 gene. 9399905 1997
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.090 GeneticVariation disease BEFREE The fragile X syndrome is an X-linked mental retardation disorder caused by an expanded CGG repeat in the first exon of the fragile X mental retardation (FMR1) gene. 9326332 1997
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.090 GeneticVariation disease BEFREE The cloning of the FMR1 gene enables molecular diagnosis in patients and in carriers (male and female) of this X-linked mental retardation disorder. 8651263 1996
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.090 Biomarker disease BEFREE Mapping of FMR1, the gene implicated in fragile X-linked mental retardation, on the mouse X chromosome. 1572655 1992