FMR1, FMRP translational regulator 1, 2332

N. diseases: 346; N. variants: 10
Disease: Renpenning syndrome 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0796135
Disease: Renpenning syndrome 1
Renpenning syndrome 1 		0.010 Biomarker disease BEFREE Mutations of PQBP1 in Renpenning syndrome promote ubiquitin-mediated degradation of FMRP and cause synaptic dysfunction. 28073926 2017