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: C0751156
Disease: FRAXA Syndrome
FRAXA Syndrome
0.350 Biomarker disease BEFREE The gene responsible for the FRAXA syndrome, the FMR1 gene, has been cloned. inactivation of the FMR1 gene is associated with amplification of a trinucle-otide CGG repeat sequence and methylation of an adjacent CpG island. 8593539 1995
CUI: C0751156
Disease: FRAXA Syndrome
FRAXA Syndrome
0.350 GeneticVariation disease BEFREE Fragile X syndrome (FRAXA) is characterized at the molecular level by an expansion of a naturally occurring 5'-(CGG)(n)-3' repeat in the promoter and 5'-untranslated region (5'-UTR) of the fragile X mental retardation (FMR1) gene on human chromosome Xq27.3. 10773084 2000
CUI: C0751156
Disease: FRAXA Syndrome
FRAXA Syndrome
0.350 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: C0751156
Disease: FRAXA Syndrome
FRAXA Syndrome
0.350 Biomarker disease CTD_human Fragile X-associated tremor/ataxia syndrome presenting in a woman after chemotherapy. 16043816 2005
CUI: C0751156
Disease: FRAXA Syndrome
FRAXA Syndrome
0.350 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: C0751156
Disease: FRAXA Syndrome
FRAXA Syndrome
0.350 Biomarker disease CTD_human Contribution of mGluR and Fmr1 functional pathways to neurite morphogenesis, craniofacial development and fragile X syndrome. 17065172 2006
CUI: C0751156
Disease: FRAXA Syndrome
FRAXA Syndrome
0.350 GeneticVariation disease BEFREE Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: case report. 17428316 2007
CUI: C0751156
Disease: FRAXA Syndrome
FRAXA Syndrome
0.350 Biomarker disease BEFREE In the present behavioral study, long-term effects of deficiency of FMRP were investigated by examining the acquisition, savings and extinction of delay eyeblink conditioning in male individuals with FRAXA. 18616611 2008
CUI: C0751156
Disease: FRAXA Syndrome
FRAXA Syndrome
0.350 Biomarker disease CTD_human Minocycline promotes dendritic spine maturation and improves behavioural performance in the fragile X mouse model. 18835858 2009
CUI: C0751156
Disease: FRAXA Syndrome
FRAXA Syndrome
0.350 PosttranslationalModification disease BEFREE In individuals with the fragile X syndrome (FRAXA), the methylation boundary is lost; methylation has penetrated into the FMR1 promoter and inactivated the FMR1 gene. 19853235 2009
CUI: C0751156
Disease: FRAXA Syndrome
FRAXA Syndrome
0.350 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: C0751156
Disease: FRAXA Syndrome
FRAXA Syndrome
0.350 Biomarker disease CTD_human Fragile x syndrome. 22043169 2011
CUI: C0751156
Disease: FRAXA Syndrome
FRAXA Syndrome
0.350 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