FMR1, FMRP translational regulator 1, 2332

N. diseases: 346; N. variants: 10
Disease: neurodevelopmental anomaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0679378
Disease: neurodevelopmental anomaly
neurodevelopmental anomaly 		0.010 GeneticVariation disease BEFREE Although large CGG expansions (>200 repeats) cause a neurodevelopmental anomaly through silencing of the gene, resulting in a deficit of FMR1 specific protein, smaller expansions (approximately 55-200 repeats) are associated with an increased transcription and late-onset specific phenotypes. 16905681 2007