FMR1, FMRP translational regulator 1, 2332

N. diseases: 346; N. variants: 10
Disease: psychosocial impairment ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0748071
Disease: psychosocial impairment
psychosocial impairment 		0.010 AlteredExpression disease BEFREE Intermediate and premutation alleles, containing between approximately 40 and 200 repeats, express grossly normal FMRP levels and such carriers are widely believed to be non-penetrant, despite continued reports of subtle cognitive/psychosocial impairment and other phenotypes. 11448936 2001