Disease: FRAXE Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751157
Disease: FRAXE Syndrome
FRAXE Syndrome 		0.060 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 		0.060 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
CUI: C0751157
Disease: FRAXE Syndrome
FRAXE Syndrome 		0.060 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 		0.060 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
CUI: C0751157
Disease: FRAXE Syndrome
FRAXE Syndrome 		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
CUI: C0751157
Disease: FRAXE Syndrome
FRAXE Syndrome 		0.060 GeneticVariation disease BEFREE Standardized cognitive, behavioral, and neuroanatomical data are presented on 2 unrelated boys with the FRAXE (FMR2) GCC expansion mutation. 9034011 1997