AFF2, AF4/FMR2 family member 2, 2334

N. diseases: 66; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0796225
Disease: Mental Retardation, X-Linked 19
Mental Retardation, X-Linked 19 		0.010 Biomarker disease BEFREE The map intervals of 5 X-linked mental retardation loci, MRX2 (Xp22.1-p22.2), MRX19 (Xp22), MRX21 (Xp21.1-p22.3), MRX29 (Xp21.2-p22.1), and MRX32 (Xp21.2-p22.1), and two syndromal mental retardation loci, Partington syndrome (PRTS; Xp22) and Coffin-Lowry syndrome (CLS; Xp22.13-p22.2), overlap this region. 8826457 1996
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		0.020 Biomarker disease BEFREE Distribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian Insufficiency. 28812997 2017
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.020 Biomarker disease BEFREE Distribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian Insufficiency. 28812997 2017
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.020 GeneticVariation disease BEFREE Duplications and deletions at the AFF2 locus have also been reported in cases with moderate intellectual disability and ASD. 22773736 2012
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.020 Biomarker disease BEFREE Although chromosome abnormalities that disrupt AFF2 have been reported in two individuals with mild-moderate intellectual disability, microdeletions of Xq28 that delete only AFF2 have not been described as a potential cause of FRAXE-intellectual disability. 22065534 2011
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.020 GeneticVariation disease BEFREE We compared phenotypes of Patient 2 with those of MPS II cases with deletion of the IDS gene alone reported previously, suggesting that the early-onset MR might be affected by the additional deletion of FMR2. 17343270 2007
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		0.020 Biomarker disease BEFREE We propose that microdeletions within FMR2 may be a significant cause of premature ovarian failure, being found in 1.5% of women with the condition, and in only 0.04% of the general female population. 10528856 1999
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.020 Biomarker disease BEFREE We propose that microdeletions within FMR2 may be a significant cause of premature ovarian failure, being found in 1.5% of women with the condition, and in only 0.04% of the general female population. 10528856 1999
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.020 AlteredExpression disease BEFREE We correlate loss of FMR2 expression with (CCG)n expansion at FRAXE, demonstrating that this is a gene associated with the CpG island adjacent to FRAXE and contributes for FRAXE-associated mild mental retardation. 8673085 1996
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		0.030 Biomarker disease BEFREE These findings, with the compelling genetic evidence suggesting the presence in Xq28 of additional genes besides RabGDI1 and FMR2 involved in non-specific X-linked mental retardation (MRX), prompted us to investigate MECP2 in MRX families. 11309367 2001
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		0.030 Biomarker disease BEFREE Elucidation of the function of the FMR2 protein as a transcription activator may place FMR2 within the molecular signalling pathways involved in nonspecific X-linked mental retardation (MRX). 11355014 2001
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		0.030 Biomarker disease BEFREE So far, seven X-chromosomal genes mutated in nonspecific mental retardation (MRX) have been identified: FMR2, GDI1, RPS6KA3, IL1RAPL, TM4SF2, OPHN1 and PAK3 (refs 2-9). 11017088 2000
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.040 GeneticVariation disease BEFREE A literature search for genes that have been implicated in ASD yielded 14 candidate genes (OXTR, SHANK3, BCL2, RORA, EN2, RELN, MECP2, AUTS2, NLGN3, NRXN1, SLC6A4, UBE3A, GABA, AFF2) that were epigenetically modified in relation to ASD. 25687563 2015
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.040 GeneticVariation disease BEFREE This report stresses the importance of clinicians being aware of the association between a full mutation of FMR2 and ASD associated with compulsive behavior despite normal intellectual level. 25035088 2015
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.040 Biomarker disease BEFREE Examples include CAPRIN1 and AFF2 (both linked to FMR1, which is involved in fragile X syndrome), VIP (involved in social-cognitive deficits), and other genes such as SCN2A and KCNQ2 (linked to epilepsy), NRXN1, and CHD7, which causes ASD-associated CHARGE syndrome. 23849776 2013
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.040 GeneticVariation disease BEFREE These data suggest that rare variation in AFF2 may be a previously unrecognized ASD susceptibility locus and may help explain some of the male excess of ASD. 22773736 2012
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.040 Biomarker disease BEFREE These findings, with the compelling genetic evidence suggesting the presence in Xq28 of additional genes besides RabGDI1 and FMR2 involved in non-specific X-linked mental retardation (MRX), prompted us to investigate MECP2 in MRX families. 11309367 2001
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.040 Biomarker disease BEFREE Elucidation of the function of the FMR2 protein as a transcription activator may place FMR2 within the molecular signalling pathways involved in nonspecific X-linked mental retardation (MRX). 11355014 2001
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.040 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
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.040 GeneticVariation disease BEFREE Non-specific X-linked mental retardation: linkage analysis in MRX2 and MRX4 families revisited. 7943041 1994
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.100 GeneticVariation phenotype GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.100 GeneticVariation phenotype GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
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: 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: 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