FMR1, FMRP translational regulator 1, 2332

N. diseases: 346; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.330 Biomarker group BEFREE Using temporally and spatially controlled genetic manipulations, this study provides the first <i>in vivo</i> report that autonomous FMRP regulates multiple stages of dendritic development, and that selective reduction of postsynaptic FMRP leads to abnormal development of excitatory presynaptic terminals and compromised neurotransmission. 29950504 2018
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.330 GeneticVariation group BEFREE Don't miss patients with atypical FMR1 mutations: dysmorphism and clinical features in a boy with a partially methylated FMR1 full mutation. 25027833 2014
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.330 GeneticVariation group BEFREE We analysed 3D facial photographs of 51 males and 15 females with full FMR1 mutations and 9 females with a premutation using dense-surface modelling techniques and a new technique that forms a directed graph with normalized face shapes as nodes and edges linking those with closest dysmorphism. 23211703 2013
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.330 Biomarker group CTD_human FMR1 gene expansion, large deletion of Xp, and skewed X-inactivation in a girl with mental retardation and autism. 20425835 2010