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 CLINGEN Our results suggest that mutations in FMR-1 are directly responsible for fragile X syndrome, irrespective of possible secondary effects caused by FRAXA. 8490650 1993
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 AlteredExpression disease 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: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 PosttranslationalModification disease BEFREE This study indicates that methylation could be the direct cause of FMR-1 inactivation in fragile X syndrome. 8503923 1993
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 GeneticVariation disease UNIPROT These findings demonstrate that FMR1 expression is directly correlated with the fragile X syndrome and suggest that anti-FMR1 antibodies will be important for diagnosis of fragile X syndrome. 7688265 1993
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 Biomarker disease BEFREE These findings demonstrate that FMR1 expression is directly correlated with the fragile X syndrome and suggest that anti-FMR1 antibodies will be important for diagnosis of fragile X syndrome. 7688265 1993
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 GeneticVariation disease BEFREE The fragile X syndrome is due to a CGG triplet expansion in the first exon of FMR1, resulting in hypermethylation and extinction of gene expression. 8401496 1993
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 GeneticVariation disease BEFREE Our results suggest that mutations in FMR-1 are directly responsible for fragile X syndrome, irrespective of possible secondary effects caused by FRAXA. 8490650 1993
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 GeneticVariation disease BEFREE The FMR1 gene, associated with fragile X syndrome, has recently been cloned and the sequence of partial cDNA clones is known. 8504300 1993
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 GeneticVariation disease UNIPROT Our results suggest that mutations in FMR-1 are directly responsible for fragile X syndrome, irrespective of possible secondary effects caused by FRAXA. 8490650 1993
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 AlteredExpression disease BEFREE FMR1 expression is usually shut down in males penetrant for the fragile X syndrome who have hypermethylated CCG amplifications of > or = 0.6 kb. 8213832 1993
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 GeneticVariation disease BEFREE DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene. 7943024 1994
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 Biomarker disease BEFREE A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome. 8069307 1994
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 Biomarker disease CLINGEN A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome. 8069307 1994
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 GeneticVariation disease UNIPROT Furthermore, they strengthen the connection between fragile X syndrome and loss of the RNA binding activity of FMR1. 8156595 1994
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 GeneticVariation disease BEFREE This study was undertaken to determine the relative impact of three molecular characteristics of the FMR1 mutation--number of CGG repeats, methylation status, and X inactivation ratio--on the cognitive involvement of female carriers of fragile X syndrome. 8301764 1994
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 Biomarker disease BEFREE Recently, the gene related to the fragile-X syndrome [the 'fragile-X mental retardation'-1 (FMR-1) gene] has been isolated. 8173220 1994
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 GeneticVariation disease BEFREE Fifty-three pedigrees with the fragile X syndrome have been studied for amplification of the CGG repeat sequence adjacent to the CpG island in the FMR1 gene. 7864047 1994
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 Biomarker disease BEFREE This deletion is smaller than those previously reported and confirms that FMR1 is the major and probably the only gene implicated in the phenotype of the fragile X syndrome. 7943018 1994
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 GeneticVariation disease BEFREE No apparent involvement of the FMR1 gene in five patients with phenotypic manifestations of the fragile X syndrome. 7942992 1994
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 GeneticVariation disease BEFREE Foldbacks of this type resemble structures first observed in the C-rich strand of telomeric DNA and also occur at the CCG triplet repeat present in the FMR-1 gene of human fragile X syndrome. 7932745 1994
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 GeneticVariation disease BEFREE A 2-year-old boy with manifestations of the fragile X syndrome was found to have a cytogenetically visible deletion of Xq27-q28 including deletion of FMR-1. 7942990 1994
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 PosttranslationalModification disease BEFREE We studied the methylation status of the CpG island of the FMR-1 (fragile X syndrome) gene to recognize the possibility of its prenatal diagnosis with early pregnant subjects. 7989507 1994
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 Biomarker disease BEFREE The fragile X mental retardation syndrome is caused by an expansion of a trinucleotide repeat (CGG)n in the FMR-1 gene. 7927336 1994
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 GeneticVariation disease BEFREE A total of 27 fragile X pedigrees consisting of over 100 nuclear families were analyzed by Southern blotting methods and probes StB12.3 and StB12.3xx to detect the expansion of the (CGG)n repeat within the FMR-1 gene and the abnormal methylation pattern of the adjacent DNA region responsible for the fragile X syndrome. 8112737 1994
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 Biomarker disease CLINGEN Male patients with fragile X syndrome lack FMR1 protein due to silencing of the FMR1 gene by amplification of a CGG repeat and subsequent methylation of the promoter region. 8033209 1994