Disease: Mental handicap ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1306341
Disease: Mental handicap
Mental handicap 		0.050 Biomarker disease BEFREE We conclude that the excess of intermediate and premutation sized alleles for FRAXA may well be a contributing factor to the boys' mental impairment, while that for FRAXE may be a chance finding. 10851251 2000
CUI: C1306341
Disease: Mental handicap
Mental handicap 		0.050 Biomarker disease BEFREE This suggests that relatively large unmethylated repeats of sizes 41-60 for FRAXA and 31-60 for FRAXE may play some role in mental impairment. 8776586 1996
CUI: C1306341
Disease: Mental handicap
Mental handicap 		0.050 GeneticVariation disease BEFREE The well known common disorder Fragile X syndrome is associated with FRAXA and a rare non-specific form of mental handicap is associated with FRAXE. 9061751 1996
CUI: C1306341
Disease: Mental handicap
Mental handicap 		0.050 AlteredExpression disease BEFREE The expression of FRAXA is associated with the fragile X syndrome, the most prevalent form of inherited mental retardation whilst the expression of FRAXE is associated with a rarer and comparatively milder form of mental handicap. 7881407 1994
CUI: C1306341
Disease: Mental handicap
Mental handicap 		0.050 GeneticVariation disease BEFREE The presence of a full mutation in the FMR-1 gene seemed decisive for the occurrence of mental impairment in the patient. 8069653 1993