AFF2, AF4/FMR2 family member 2, 2334

N. diseases: 66; N. variants: 2
Disease: Mild Mental Retardation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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