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 AlteredExpression group BEFREE Members of the AFF (AF4/FMR2) family of putative transcription factors are involved in infant acute leukaemia and intellectual disability (ID), although very little is known about their transcriptional targets. 25162227 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group BEFREE We identified a polymorphic CGG repeat in a conserved, brain-active alternative promoter of the AFF3 gene, an autosomal homolog of the X-linked AFF2/FMR2 gene: Expansion of the AFF2 CGG repeat causes FRAXE ID. 24763282 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group BEFREE These results suggest that FMR2 is an upstream regulator of FOS and JUN, and further link deregulation of the immediate early response genes to the pathology of ID- and FRAXE-associated ID in particular. 23562910 2013
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.100 Biomarker disease BEFREE Distribution of CGG/GCC repeats at the FMR1 and FMR2 genes in an Indian population with mental retardation of unknown etiology. 21254876 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group BEFREE Distribution of CGG/GCC repeats at the FMR1 and FMR2 genes in an Indian population with mental retardation of unknown etiology. 21254876 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group BEFREE AFF2/FMR2 is silenced in FRAXE intellectual disability, while the other three members have been reported to form fusion genes as a consequence of chromosome translocations with the myeloid/lymphoid or mixed lineage leukemia (MLL) gene in acute lymphoblastic leukemias (ALLs). 21330300 2011
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.100 Biomarker disease BEFREE With the forthcoming identification of the gene targets that trigger Purkinje cell death in the robotic cerebellum, and the functional conservation among the ALF proteins, the robotic mouse promises to deliver important insights into the pathogenesis of human ataxia, but also of mental retardation to which FMR2 and LAF4 have been linked. 19340490 2009
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group BEFREE With the forthcoming identification of the gene targets that trigger Purkinje cell death in the robotic cerebellum, and the functional conservation among the ALF proteins, the robotic mouse promises to deliver important insights into the pathogenesis of human ataxia, but also of mental retardation to which FMR2 and LAF4 have been linked. 19340490 2009
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.100 Biomarker disease BEFREE FRAXE is associated with X-linked non-specific mental retardation, and FRA11B with Jacobsen syndrome. 18078840 2008
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group BEFREE FRAXE is associated with X-linked non-specific mental retardation, and FRA11B with Jacobsen syndrome. 18078840 2008
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.100 Biomarker disease BEFREE In contrast, a relationship between the second main group of fragile sites characterized by repeat expansion, the rare fragile sites, and mental retardation has been proposed many years ago, but after the molecular cloning of FRAXA and FRAXE both unequivocally involved in mental retardation, no additional fragile sites linked with mental retardation have been cloned for over a decade. 17567780 2007
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group BEFREE In contrast, a relationship between the second main group of fragile sites characterized by repeat expansion, the rare fragile sites, and mental retardation has been proposed many years ago, but after the molecular cloning of FRAXA and FRAXE both unequivocally involved in mental retardation, no additional fragile sites linked with mental retardation have been cloned for over a decade. 17567780 2007
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.100 AlteredExpression disease BEFREE Reverse transcriptase PCR studies on the FMR2 and FMR3 genes showed that only the FMR3 gene transcription was abolished, suggesting a possible causal relationship between the lack of FMR3 expression and mental retardation in this patient. 16469443 2006
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 AlteredExpression group BEFREE Reverse transcriptase PCR studies on the FMR2 and FMR3 genes showed that only the FMR3 gene transcription was abolished, suggesting a possible causal relationship between the lack of FMR3 expression and mental retardation in this patient. 16469443 2006
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.100 Biomarker disease BEFREE The mutated protein, Af4, is a member of the AF4/LAF4/FMR2 (ALF) family of putative transcription factors previously implicated in childhood leukaemia and FRAXE mental retardation. 16321881 2005
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group BEFREE The mutated protein, Af4, is a member of the AF4/LAF4/FMR2 (ALF) family of putative transcription factors previously implicated in childhood leukaemia and FRAXE mental retardation. 16321881 2005
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.100 GeneticVariation disease BEFREE Here we report molecular screening survey of 97 unrelated individuals diagnosed with non-specific mental retardation (MR), which produced positive test for FRAXA in two boys and none positive for the FRAXE mutation. 14668200 2004
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 GeneticVariation group BEFREE Here we report molecular screening survey of 97 unrelated individuals diagnosed with non-specific mental retardation (MR), which produced positive test for FRAXA in two boys and none positive for the FRAXE mutation. 14668200 2004
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.100 GeneticVariation disease BEFREE FRAXE syndrome is distinct from fragile X syndrome, a more common genetic form of mental retardation caused by expansion and methylation of a similar repeat in the FMR1 gene located 600 kb proximal to FRAXE. 14526173 2003
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 GeneticVariation group BEFREE FRAXE syndrome is distinct from fragile X syndrome, a more common genetic form of mental retardation caused by expansion and methylation of a similar repeat in the FMR1 gene located 600 kb proximal to FRAXE. 14526173 2003
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.100 Biomarker disease BEFREE Three individuals (2.6%) with the FRAXA form of the fragile X syndrome and one boy (0.9%) with FRAXE mental retardation were detected; a total of four newly diagnosed fragile X families were identified. 12113322 2002
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.100 Biomarker disease BEFREE Molecular screening of FRAXA and FRAXE in Indian patients with unexplained mental retardation. 12537661 2002
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group BEFREE Three individuals (2.6%) with the FRAXA form of the fragile X syndrome and one boy (0.9%) with FRAXE mental retardation were detected; a total of four newly diagnosed fragile X families were identified. 12113322 2002
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group BEFREE Molecular screening of FRAXA and FRAXE in Indian patients with unexplained mental retardation. 12537661 2002
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.100 Biomarker disease BEFREE This review summarises the new data on FRAXE associated mental retardation and the FMR2 gene in the light of the recent discoveries of new genes responsible for other forms of non-specific X-linked mental retardation. 11246464 2000