Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group BEFREE Expansion of a (CCG)n repeat in the FMR2 gene corresponds to the FRAXE fragile site which lies distal to FRAXA and is also associated with mental retardation, but it is less frequent and lacks a consistent phenotype. 9341861 1997
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group BEFREE FMR2 is the gene associated with FRAXE mental retardation. 9299237 1997
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 GeneticVariation 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 		0.100 AlteredExpression group BEFREE FMR2 expression in families with FRAXE mental retardation. 9147647 1997
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 GeneticVariation group BEFREE Identification of the gene FMR2, associated with FRAXE mental retardation. 8673085 1996
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group BEFREE Of the three X chromosome sites, FRAXA, FRAXE and FRAXF, the former two are associated with mental retardation in their expanded forms. 8673086 1996
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group BEFREE To date, seven diseases have been identified as expanded repeat disorders: the fragile X syndrome of mental retardation both FRAXA and FRAXE loci), myotonic dystrophy, X-linked spinal and bulbar muscular atrophy, Huntington's disease, spinocerebellar ataxia type I, dentatorubral-pallidoluysian atrophy, and Machado-Joseph disease. 8833437 1996
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group BEFREE For the population studied, we conclude that FRAXE mental retardation is a relatively rare but significant form of mental retardation for which genetic diagnosis would be appropriate. 8651274 1996
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group BEFREE FRAXE and mental retardation. 7783162 1995
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 GeneticVariation group BEFREE Another member of the group FRAXE is responsible for a rarer mild form of mental retardation. 7731957 1995
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 GeneticVariation group BEFREE At least seven disorders result from trinucleotide repeat expansion: X-linked spinal and bulbar muscular atrophy (SBMA), two fragile X syndromes of mental retardation (FRAXA and FRAXE), myotonic dystrophy, Huntington's disease, spinocerebellar ataxia type 1 (SCA1), and dentatorubral-pallidoluysian atrophy (DRPLA). 7998766 1994
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 AlteredExpression group BEFREE The expression of FRAXA is associated with the fragile X syndrome, the most prevalent form of inherited mental retardation whilst the expression of FRAXE is associated with a rarer and comparatively milder form of mental handicap. 7881407 1994
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 GeneticVariation group BEFREE The recent observation that the mutation underlying a number of genetic diseases including fragile sites, FRAXA and FRAXE (associated with mental retardation), myotonic dystrophy, spinal and bulbar muscular atrophy (Kennedy's disease), Huntington's disease and spinocerebellar ataxia type 1 are caused by the expansion of a trinucleotide repeat sequence will lead to interest in the identification of such sequences in regions related to other diseases. 8162055 1994
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 GeneticVariation group BEFREE Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. 8334699 1993