FMR1, FMRP translational regulator 1, 2332

N. diseases: 346; N. variants: 10
Disease: Developmental symptoms ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0476236
Disease: Developmental symptoms
Developmental symptoms 		0.010 Biomarker phenotype BEFREE Since local protein synthesis is required for synaptic development and function, this role of FMRP likely underlies some of the behavioural and developmental symptoms of FRAXA patients. 15119819 2004