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 CausalMutation disease CLINVAR
Entrez Id: 2334
Gene Symbol: AFF2
AFF2 		0.740 Biomarker disease CTD_human
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1 		0.100 CausalMutation disease CLINVAR
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: 2481
Gene Symbol: FRAXE
FRAXE 		0.060 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: 2481
Gene Symbol: FRAXE
FRAXE 		0.060 Biomarker disease BEFREE FRAXE (FMR2) is a fragile site associated with mental impairment located in Xq28, 600 kb distal to FRAXA (FMR1), the fragile X syndrome fragile site. 11462240 2001
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: 2334
Gene Symbol: AFF2
AFF2 		0.740 Biomarker disease CLINGEN Clinical, cytogenetic, and molecular analysis of three families with FRAXE. 9032643 1997
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 syndrome. 22043169 2011
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
Entrez Id: 84162
Gene Symbol: KIAA1109
KIAA1109 		0.010 Biomarker disease BEFREE FRAXE (FMR2) is a fragile site associated with mental impairment located in Xq28, 600 kb distal to FRAXA (FMR1), the fragile X syndrome fragile site. 11462240 2001
Entrez Id: 2334
Gene Symbol: AFF2
AFF2 		0.740 Biomarker disease CLINGEN FRAXE and mental retardation. 7783162 1995
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: 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 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: 2481
Gene Symbol: FRAXE
FRAXE 		0.060 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 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: 2332
Gene Symbol: FMR1
FMR1 		0.310 Biomarker disease CTD_human Metabotropic glutamate receptor activation regulates fragile x mental retardation protein and FMR1 mRNA localization differentially in dendrites and at synapses. 15028757 2004
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: 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 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