FMR1, FMRP translational regulator 1, 2332

N. diseases: 346; N. variants: 10
Disease: Broad autism phenotype ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4552213
Disease: Broad autism phenotype
Broad autism phenotype 		0.020 GeneticVariation disease BEFREE Impaired eye contact in the FMR1 premutation is not associated with social anxiety or the broad autism phenotype. 28972453 2019
CUI: C4552213
Disease: Broad autism phenotype
Broad autism phenotype 		0.020 Biomarker disease BEFREE These results provide further evidence for the overlap of autism and FXS, and may implicate FMR1 in some of the subtle features comprising the broad autism phenotype. 22693142 2012