Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006009
Disease: Borderline intellectual disability
Borderline intellectual disability
0.020 GeneticVariation disease BEFREE Expansion of the FRAXE CCG repeat to a full mutation is associated with methylation and transcriptional silencing of the FMR2 gene, and as a consequence, mild-to-borderline mental retardation. 11355014 2001
CUI: C0006009
Disease: Borderline intellectual disability
Borderline intellectual disability
0.020 Biomarker disease BEFREE Although the role of FMR3 in FRAXE associated mild to borderline mental retardation is not yet clear, lack of expression of FMR3 in FRAXE full mutation males means that the FMR3 gene is potentially involved. 11015457 2000