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: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 Biomarker group BEFREE This dinucleotide repeat could be useful in determining the parental origin of a new fra (X) mutations and evaluating the role of FMR-1 in X-linked non-specific mental retardation. 1605197 1992
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 Biomarker group 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: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 Biomarker group BEFREE The normal function of the FMR1 protein (FMRP) and the mechanism by which its absence leads to mental retardation are unknown. 7692601 1993
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 AlteredExpression group BEFREE 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: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 GeneticVariation group BEFREE A point mutation in the FMR-1 gene associated with fragile X mental retardation. 8490650 1993
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 Biomarker group BEFREE Two brothers were discordant for the region containing the FMR1 gene; if there is a common cause for the mental retardation this is not located in the FMR1 gene. 7942992 1994
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 GeneticVariation group BEFREE In this study, 977 genetically unrelated individuals from families unselected for mental retardation or fragile X were analyzed with Southern blot analysis for the presence of FMR1 mutations. 8012350 1994
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 Biomarker group BEFREE Consequently, this knockout mouse may serve as a valuable tool in the elucidation of the physiological role of FMR1 and the mechanisms involved in macroorchidism, abnormal behavior, and mental retardation. 8033209 1994
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 GeneticVariation group BEFREE No mental retardation in a man with 40% abnormal methylation at the FMR-1 locus and transmission of sperm cell mutations as premutations. 7951239 1994
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 Biomarker group BEFREE The lack of FMR1 protein is believed to be responsible for the mental retardation. 8552426 1995
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 GeneticVariation group BEFREE Neuroanatomical differences between two monozygotic twins with an FMR-1 mutation who are discordant for mental retardation are localized to the cerebellum, lateral ventricles and subcortical nuclei. 7585014 1995
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 GeneticVariation group BEFREE Fragile X mental retardation syndrome, the most common cause of hereditary mental retardation, is directly associated with the FMR1 gene at Xq27.3. 7781595 1995
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 GeneticVariation group BEFREE Most males with the FMR1 full mutation function in the mentally retarded range of intelligence; in contrast, females with the FMR1 full mutation show a broader range of intelligence, from mental retardation to normal IQ.(ABSTRACT TRUNCATED AT 250 WORDS) 7581460 1995
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 AlteredExpression group BEFREE Fragile X syndrome is the most common form of inherited mental retardation and results from the transcriptional inactivation of the FMR1 gene. 7726157 1995
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 AlteredExpression group BEFREE These deletion patients provide further confirmatory evidence that loss of FMR1 gene expression is indeed responsible for mental retardation. 7825604 1995
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 GeneticVariation group BEFREE Its expansion in the human FMR1 gene leads to the fragile X syndrome, one of the most frequent causes of mental retardation in human males. 8626781 1996
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 GeneticVariation group BEFREE The human FMR1 protein, which has two KH domains, is associated with fragile X syndrome, the most common inherited cause of mental retardation. 8612276 1996
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 Biomarker group BEFREE Fragile X syndrome is a frequent cause of mental retardation resulting from the absence of FMRP, the protein encoded by the FMR1 gene. 8842725 1996
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 Biomarker group BEFREE The FMR-1 gene for the human fragile-chi syndrome, a mental retardation disease inherited by non-Mendelian transmission, contains a genetically unstable CGG region in the 5' non-translated region. 8636996 1996
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 GeneticVariation group BEFREE The transcriptional silencing of the human gene, fragile X mental retardation 1 (FMR1), is due to abnormal methylation in response to an expanded 5'-untranslated CGG trinucleotide repeat and accounts for most cases of fragile X syndrome, a frequent inherited form of mental retardation. 8808273 1996
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 GeneticVariation group BEFREE Fragile X syndrome is caused by mutations in the FMR1 gene and is one of the most frequent forms of inherited mental retardation in males. 9132500 1997
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 GeneticVariation group BEFREE The fragile X syndrome is caused by the amplification of a polymorphic CGG repeat in the 5' untranslated region of the FMR1 gene and is the most common form of inherited mental retardation. 9211186 1997
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 Biomarker group BEFREE These results suggest that neither the FMR1 nor the FMR2 mutation is a common etiology of academic failure among school-age children without mental retardation and that the prevalence of the FMR1 premutation is no more frequent in children with academic failure than it is in the general population. 9431501 1997
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 GeneticVariation group BEFREE Screening for FMR1 and FMR2 mutations in 222 individuals from Spanish special schools: identification of a case of FRAXE-associated mental retardation. 9341861 1997
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 Biomarker group BEFREE Fragile X syndrome is the most frequent form of inherited mental retardation and it is caused by deficiency of FMRP, the protein encoded by the FMR1 gene. 9440121 1997