FMR1, FMRP translational regulator 1, 2332

N. diseases: 346; N. variants: 10
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 		0.060 GeneticVariation disease BEFREE Fragile X syndrome is the leading cause of inherited mental impairment and is associated with expansions of CGG repeats within the FMR1 gene. 22311273 2013
CUI: C1306341
Disease: Mental handicap
Mental handicap 		0.060 GeneticVariation disease BEFREE A loss-of-function mutation in the FMR1 gene leads to subtle changes in neural development and subsequent mental impairment characteristic of FX. hNPCs were isolated from fetal cortex carrying the FMR1 mutation to determine whether aberrations occur in their proliferation and differentiation. 18225979 2008
CUI: C1306341
Disease: Mental handicap
Mental handicap 		0.060 Biomarker disease BEFREE How does the absence of FMRP cause misregulation of protein synthesis, which in turn leads to mental impairment in fragile X syndrome? 12112449 2002
CUI: C1306341
Disease: Mental handicap
Mental handicap 		0.060 AlteredExpression disease BEFREE The protein product, FMRP, is highly expressed in neurons of the normal mammalian brain, and absent or in low levels in leukocytes from individuals with fragile X (FraX)-associated mental impairment. 9916838 1999
CUI: C1306341
Disease: Mental handicap
Mental handicap 		0.060 GeneticVariation disease BEFREE Two new cases of FMR1 deletion associated with mental impairment. 7825604 1995
CUI: C1306341
Disease: Mental handicap
Mental handicap 		0.060 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