FMR1, FMRP translational regulator 1, 2332

N. diseases: 29; N. variants: 9
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 GeneticVariation disease UNIPROT Fragile X syndrome is caused by the absence of the fragile X mental retardation protein (FMRP). 10196376 1999
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 Biomarker disease CTD_human Fragile X syndrome is caused by the absence of the mRNA-binding protein Fragile X mental retardation protein (FMRP), which may play a role in activity-regulated localization and translation of mRNA in dendrites and at synapses. 15028757 2004
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 GeneticVariation disease UNIPROT These findings demonstrate that FMR1 expression is directly correlated with the fragile X syndrome and suggest that anti-FMR1 antibodies will be important for diagnosis of fragile X syndrome. 7688265 1993
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 GeneticVariation disease UNIPROT These findings suggest that nuclear FMRP regulates genomic stability at the chromatin interface and may impact gametogenesis and some developmental aspects of fragile X syndrome. 24813610 2014
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 Biomarker disease CTD_human Subjects with FXS and fragile X mental retardation gene knock out (Fmr1 KO) mice, an animal model for FXS, have been shown to exhibit defects in dendritic spine maturation that may underlie cognitive and behavioural abnormalities in FXS. 18835858 2009
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 GeneticVariation disease UNIPROT We propose a contribution of Tdrd3 to FMRP-mediated translational repression and suggest that the loss of the FMRP-Tdrd3 interaction caused by the I304N mutation might contribute to the pathogenesis of Fragile X syndrome. 18664458 2008
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 Biomarker disease CLINGEN We conclude that further studies including western blot and DNA sequence analysis of the FMR1 gene should be performed in patients with typical symptoms of fragile X syndrome in whom no CGG repeat expansion is detected. 21267007 2011
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 Biomarker disease CTD_human Contribution of mGluR and Fmr1 functional pathways to neurite morphogenesis, craniofacial development and fragile X syndrome. 17065172 2006
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 Biomarker disease CLINGEN In over two decades since the discovery of FMR1, only a single missense mutation (p.(Ile304Asn)) has been reported as causing fragile X syndrome. 24448548 2014
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 Biomarker disease CLINGEN We report here the identification of two different intragenic loss of function mutations in FMR1: a single de novo nucleotide deletion in a young male patient (IJ) and an inherited two basepair change in an Adult male (SD), each with classical features of fragile X syndrome. 7670500 1995
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 GeneticVariation disease UNIPROT In vitro and in cellulo evidences for association of the survival of motor neuron complex with the fragile X mental retardation protein. 18093976 2008
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 GeneticVariation disease UNIPROT These results reveal a presynaptic- and translation-independent function of FMRP that is linked to a specific subset of FXS phenotypes. 25561520 2015
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 GeneticVariation disease UNIPROT We conclude that mental retardation associated with the I304N mutation, and likely the Fragile-X syndrome more generally, may relate to a crucial role for RNAs harboring the kissing complex motif as targets for FMRP translational regulation. 15805463 2005
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 Biomarker disease CTD_human Fragile X-associated tremor/ataxia syndrome presenting in a woman after chemotherapy. 16043816 2005
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 GeneticVariation disease UNIPROT Our results suggest that mutations in FMR-1 are directly responsible for fragile X syndrome, irrespective of possible secondary effects caused by FRAXA. 8490650 1993
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 GeneticVariation disease UNIPROT The identity of these proteins was confirmed by their absence in tissues from patients with the fragile X syndrome and a FMR1 knock-out mouse. 7633450 1995
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 Biomarker disease CLINGEN This study suggests that intragenic FMR1 variants, although much less frequent than CGG expansions, are a significant mutational mechanism leading to FXS and demonstrates the interest of HTS approaches to detect them in ID patients with a negative standard work-up. 28176767 2017
CUI: C1839780
Disease: FRAGILE X TREMOR/ATAXIA SYNDROME
FRAGILE X TREMOR/ATAXIA SYNDROME 		0.900 GermlineCausalMutation disease ORPHANET
CUI: C1839780
Disease: FRAGILE X TREMOR/ATAXIA SYNDROME
FRAGILE X TREMOR/ATAXIA SYNDROME 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C1839780
Disease: FRAGILE X TREMOR/ATAXIA SYNDROME
FRAGILE X TREMOR/ATAXIA SYNDROME 		0.900 Biomarker disease CTD_human Altered redox mitochondrial biology in the neurodegenerative disorder fragile X-tremor/ataxia syndrome: use of antioxidants in precision medicine. 27385396 2016
CUI: C1839780
Disease: FRAGILE X TREMOR/ATAXIA SYNDROME
FRAGILE X TREMOR/ATAXIA SYNDROME 		0.900 Biomarker disease GENOMICS_ENGLAND Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome. 28176767 2017
CUI: C4552079
Disease: Premature Ovarian Failure 1
Premature Ovarian Failure 1 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C4552079
Disease: Premature Ovarian Failure 1
Premature Ovarian Failure 1 		0.600 Biomarker disease CTD_human Female carriers of fragile X premutations have no increased risk for additional diseases other than premature ovarian failure. 12548733 2003
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker disease CTD_human Previously, we have screened autism probands for mutations in regions of the FMR1 gene downstream of the [CGG] repeat and identified an intronic variant in the FMR1 gene, IVS10 + 14C-T, which was present at a significantly higher frequency in autistic individuals compared to controls individuals. 14755444 2004