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: C0751157
Disease: FRAXE Syndrome
FRAXE Syndrome
0.310 Biomarker disease CTD_human Acamprosate in a mouse model of fragile X syndrome: modulation of spontaneous cortical activity, ERK1/2 activation, locomotor behavior, and anxiety. 28616095 2017
CUI: C0751157
Disease: FRAXE Syndrome
FRAXE Syndrome
0.310 Biomarker disease CTD_human Fragile x syndrome. 22043169 2011
CUI: C0751157
Disease: FRAXE Syndrome
FRAXE Syndrome
0.310 Biomarker disease CTD_human GSK3 influences social preference and anxiety-related behaviors during social interaction in a mouse model of fragile X syndrome and autism. 20300527 2010
CUI: C0751157
Disease: FRAXE Syndrome
FRAXE Syndrome
0.310 Biomarker disease CTD_human Minocycline promotes dendritic spine maturation and improves behavioural performance in the fragile X mouse model. 18835858 2009
CUI: C0751157
Disease: FRAXE Syndrome
FRAXE Syndrome
0.310 Biomarker disease CTD_human Contribution of mGluR and Fmr1 functional pathways to neurite morphogenesis, craniofacial development and fragile X syndrome. 17065172 2006
CUI: C0751157
Disease: FRAXE Syndrome
FRAXE Syndrome
0.310 Biomarker disease CTD_human Fragile X mental retardation protein shifts between polyribosomes and stress granules after neuronal injury by arsenite stress or in vivo hippocampal electrode insertion. 16510718 2006
CUI: C0751157
Disease: FRAXE Syndrome
FRAXE Syndrome
0.310 Biomarker disease CTD_human Fragile X-associated tremor/ataxia syndrome presenting in a woman after chemotherapy. 16043816 2005
CUI: C0751157
Disease: FRAXE Syndrome
FRAXE Syndrome
0.310 Biomarker disease CTD_human Metabotropic glutamate receptor activation regulates fragile x mental retardation protein and FMR1 mRNA localization differentially in dendrites and at synapses. 15028757 2004
CUI: C0751157
Disease: FRAXE Syndrome
FRAXE Syndrome
0.310 GeneticVariation disease BEFREE The aims of this population screening were to determine the prevalence of FRAXA and FRAXE syndromes among idiopathic mentally retarded (IMR) individuals, to estimate the incidence in the general population, and to investigate the molecular mechanism of instability and expansion of the FMR1-repeat. 10331587 1999