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: C0751157
Disease: FRAXE Syndrome
FRAXE Syndrome 		0.740 Biomarker disease CLINGEN Loss of FMR2 further emphasizes the link between deregulation of immediate early response genes FOS and JUN and intellectual disability. 23562910 2013
CUI: C0751157
Disease: FRAXE Syndrome
FRAXE Syndrome 		0.740 AlteredExpression disease BEFREE It is possible that other members of the AFF family compensate for the loss of AFF2/FMR2 activity and as such explain the relatively mild to borderline phenotype observed in FRAXE patients. 21330300 2011
CUI: C0751157
Disease: FRAXE Syndrome
FRAXE Syndrome 		0.740 GeneticVariation disease BEFREE Our observation demonstrates that FMR2 gene deletions may contribute to the FRAXE phenotype. 21739600 2011
CUI: C0751157
Disease: FRAXE Syndrome
FRAXE Syndrome 		0.740 GermlineCausalMutation disease ORPHANET Our observation demonstrates that FMR2 gene deletions may contribute to the FRAXE phenotype. 21739600 2011
CUI: C0751157
Disease: FRAXE Syndrome
FRAXE Syndrome 		0.740 AlteredExpression disease BEFREE Since these activities likely extend to the entire ALF protein family, this study also significantly inputs our understanding of the molecular basis of FRAXE mental retardation syndrome in which FMR2 expression is silenced. 17135274 2007
CUI: C0751157
Disease: FRAXE Syndrome
FRAXE Syndrome 		0.740 GeneticVariation disease BEFREE FRAXE syndrome is rare, and patients' phenotypes are highly variable, leading to difficulties with predicting specific FMR2 functions based on the human disease. 14526173 2003
CUI: C0751157
Disease: FRAXE Syndrome
FRAXE Syndrome 		0.740 Biomarker disease CLINGEN FRAXE syndrome is rare, and patients' phenotypes are highly variable, leading to difficulties with predicting specific FMR2 functions based on the human disease. 14526173 2003
CUI: C0751157
Disease: FRAXE Syndrome
FRAXE Syndrome 		0.740 Biomarker disease CLINGEN Molecular characterization of FRAXE-positive subjects with mental impairement in two unrelated Italian families. 9475603 1998
CUI: C0751157
Disease: FRAXE Syndrome
FRAXE Syndrome 		0.740 Biomarker disease CLINGEN 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: C0751157
Disease: FRAXE Syndrome
FRAXE Syndrome 		0.740 Biomarker disease CLINGEN Clinical, cytogenetic, and molecular analysis of three families with FRAXE. 9032643 1997
CUI: C0751157
Disease: FRAXE Syndrome
FRAXE Syndrome 		0.740 Biomarker disease CLINGEN Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island. 8673086 1996
CUI: C0751157
Disease: FRAXE Syndrome
FRAXE Syndrome 		0.740 Biomarker disease CLINGEN FRAXE and mental retardation. 7783162 1995
CUI: C0751157
Disease: FRAXE Syndrome
FRAXE Syndrome 		0.740 Biomarker disease CLINGEN Overlapping submicroscopic deletions in Xq28 in two unrelated boys with developmental disorders: identification of a gene near FRAXE. 7536393 1995
CUI: C0751157
Disease: FRAXE Syndrome
FRAXE Syndrome 		0.740 Biomarker disease CLINGEN Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap. 8023854 1994
CUI: C0751157
Disease: FRAXE Syndrome
FRAXE Syndrome 		0.740 Biomarker disease GENOMICS_ENGLAND Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. 8334699 1993
CUI: C0751157
Disease: FRAXE Syndrome
FRAXE Syndrome 		0.740 Biomarker disease CLINGEN Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. 8334699 1993
CUI: C0751157
Disease: FRAXE Syndrome
FRAXE Syndrome 		0.740 CausalMutation disease CLINVAR
CUI: C0751157
Disease: FRAXE Syndrome
FRAXE Syndrome 		0.740 Biomarker disease CTD_human
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		0.340 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: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		0.340 Biomarker disease BEFREE X chromosome microarray revealed a large deletion encompassing the genes IDS, FMR1, and AFF2 (FMR2) confirming the diagnoses of both Hunter and fragile X syndromes. 22190500 2012
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		0.340 GeneticVariation disease BEFREE Further studies confirmed a loss of one copy each of the FMR1, FMR2, and IDS genes (which are mutated in Fragile X syndrome, FRAXE syndrome, and Hunter syndrome, respectively). 17506108 2007
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		0.340 GeneticVariation disease BEFREE Fragile X syndrome with FMR1 and FMR2 deletion. 10424820 1999
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		0.340 Biomarker disease CTD_human
CUI: C0751156
Disease: FRAXA Syndrome
FRAXA Syndrome 		0.300 Biomarker disease CTD_human
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 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