FMR1, FMRP translational regulator 1, 2332

N. diseases: 346; N. variants: 10
Disease: developmentally delayed ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0743101
Disease: developmentally delayed
developmentally delayed 		0.020 GeneticVariation phenotype BEFREE Through the use of pooled-template massively parallel sequencing, we identified 130 novel FMR1 sequence variants in a population of 963 developmentally delayed males without CGG-repeat expansion mutations. 20799337 2010
CUI: C0743101
Disease: developmentally delayed
developmentally delayed 		0.020 GeneticVariation phenotype BEFREE Apparently unstable normal FMR1 alleles in nine developmentally delayed patients: implications for molecular diagnosis of the fragile X syndrome. 11142752 2000