FMR1, FMRP translational regulator 1, 2332

N. diseases: 346; N. variants: 10
Disease: Protein Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0033626
Disease: Protein Deficiency
Protein Deficiency 		0.010 Biomarker disease BEFREE It results from a fragile X mental retardation protein (FMRP) protein deficiency caused by a CGG repeat expansion in the 5'-UTR of the X-linked <i>FMR1</i> gene. 29467618 2018