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 CTD_human FMR1 gene expansion, large deletion of Xp, and skewed X-inactivation in a girl with mental retardation and autism. 20425835 2010
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 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 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