Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2334
Gene Symbol: AFF2
AFF2 		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
Entrez Id: 2334
Gene Symbol: AFF2
AFF2 		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
Entrez Id: 2334
Gene Symbol: AFF2
AFF2 		0.740 GeneticVariation disease BEFREE Our observation demonstrates that FMR2 gene deletions may contribute to the FRAXE phenotype. 21739600 2011
Entrez Id: 2334
Gene Symbol: AFF2
AFF2 		0.740 GermlineCausalMutation disease ORPHANET Our observation demonstrates that FMR2 gene deletions may contribute to the FRAXE phenotype. 21739600 2011
Entrez Id: 2334
Gene Symbol: AFF2
AFF2 		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
Entrez Id: 2334
Gene Symbol: AFF2
AFF2 		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
Entrez Id: 2334
Gene Symbol: AFF2
AFF2 		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
Entrez Id: 2334
Gene Symbol: AFF2
AFF2 		0.740 Biomarker disease CLINGEN Molecular characterization of FRAXE-positive subjects with mental impairement in two unrelated Italian families. 9475603 1998
Entrez Id: 2334
Gene Symbol: AFF2
AFF2 		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
Entrez Id: 2334
Gene Symbol: AFF2
AFF2 		0.740 Biomarker disease CLINGEN Clinical, cytogenetic, and molecular analysis of three families with FRAXE. 9032643 1997
Entrez Id: 2334
Gene Symbol: AFF2
AFF2 		0.740 Biomarker disease CLINGEN Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island. 8673086 1996
Entrez Id: 2334
Gene Symbol: AFF2
AFF2 		0.740 Biomarker disease CLINGEN FRAXE and mental retardation. 7783162 1995
Entrez Id: 2334
Gene Symbol: AFF2
AFF2 		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
Entrez Id: 2334
Gene Symbol: AFF2
AFF2 		0.740 Biomarker disease CLINGEN Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap. 8023854 1994
Entrez Id: 2334
Gene Symbol: AFF2
AFF2 		0.740 Biomarker disease GENOMICS_ENGLAND Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. 8334699 1993
Entrez Id: 2334
Gene Symbol: AFF2
AFF2 		0.740 Biomarker disease CLINGEN Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. 8334699 1993
Entrez Id: 2334
Gene Symbol: AFF2
AFF2 		0.740 CausalMutation disease CLINVAR
Entrez Id: 2334
Gene Symbol: AFF2
AFF2 		0.740 Biomarker disease CTD_human
Entrez Id: 2332
Gene Symbol: FMR1
FMR1 		0.310 Biomarker disease CTD_human Acamprosate in a mouse model of fragile X syndrome: modulation of spontaneous cortical activity, ERK1/2 activation, locomotor behavior, and anxiety. 28616095 2017
Entrez Id: 2332
Gene Symbol: FMR1
FMR1 		0.310 Biomarker disease CTD_human Fragile x syndrome. 22043169 2011
Entrez Id: 2332
Gene Symbol: FMR1
FMR1 		0.310 Biomarker disease CTD_human GSK3 influences social preference and anxiety-related behaviors during social interaction in a mouse model of fragile X syndrome and autism. 20300527 2010
Entrez Id: 2332
Gene Symbol: FMR1
FMR1 		0.310 Biomarker disease CTD_human Minocycline promotes dendritic spine maturation and improves behavioural performance in the fragile X mouse model. 18835858 2009
Entrez Id: 2332
Gene Symbol: FMR1
FMR1 		0.310 Biomarker disease CTD_human Contribution of mGluR and Fmr1 functional pathways to neurite morphogenesis, craniofacial development and fragile X syndrome. 17065172 2006
Entrez Id: 2332
Gene Symbol: FMR1
FMR1 		0.310 Biomarker disease CTD_human Fragile X mental retardation protein shifts between polyribosomes and stress granules after neuronal injury by arsenite stress or in vivo hippocampal electrode insertion. 16510718 2006
Entrez Id: 2332
Gene Symbol: FMR1
FMR1 		0.310 Biomarker disease CTD_human Fragile X-associated tremor/ataxia syndrome presenting in a woman after chemotherapy. 16043816 2005