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: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		0.400 Biomarker group 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: C0009241
Disease: Cognition Disorders
Cognition Disorders 		0.400 Biomarker group CTD_human Fragile x syndrome. 22043169 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group CTD_human Although uncommon, point mutations in the FMR1 gene may be a cause of autism and mental retardation in Japanese patients. 15000256 2004
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: C0282631
Disease: Facies
Facies 		0.300 Biomarker group CTD_human Fragile x syndrome. 22043169 2011
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.300 Biomarker group CTD_human Contribution of mGluR and Fmr1 functional pathways to neurite morphogenesis, craniofacial development and fragile X syndrome. 17065172 2006
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.300 Biomarker group CTD_human Fragile x syndrome. 22043169 2011
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms 		0.310 Biomarker phenotype PSYGENET To define better this neuropsychiatric phenotype associated with premutation carriers and to minimize a possible environmental effect, we examined psychiatric and depressive symptoms in 34 FMR1 premutation carrier mothers of children with fragile-X syndrome in comparison with two control groups (39 mothers with a non-fragile-X syndrome mentally retarded child and 39 mothers from the general population). 18628675 2008
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		0.300 Biomarker phenotype CTD_human Single-strand conformation polymorphism analysis of the FMR1 gene in autistic and mentally retarded children in Japan. 15000256 2004
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		0.300 Biomarker phenotype CTD_human FMR1 gene expansion, large deletion of Xp, and skewed X-inactivation in a girl with mental retardation and autism. 20425835 2010
CUI: C2678248
Disease: Mood instability
Mood instability 		0.300 Biomarker phenotype PSYGENET Loss of function of FMR1 is a model for neurodevelopmental and behavioural disorders, including mental retardation, autism, anxiety, and mood instability. 17166801 2007
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 GeneticVariation disease UNIPROT FXS is typically caused by the loss of fragile X mental retardation 1 (FMR1) expression, which codes for the RNA-binding protein FMRP. 23235829 2012
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 GeneticVariation disease UNIPROT Fragile X syndrome is caused by loss of function of a single gene encoding the Fragile X Mental Retardation Protein (FMRP). 24204304 2013
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 Biomarker disease CLINGEN A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome. 8069307 1994
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 GeneticVariation disease UNIPROT Furthermore, they strengthen the connection between fragile X syndrome and loss of the RNA binding activity of FMR1. 8156595 1994
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 GeneticVariation disease UNIPROT Fragile X mental retardation syndrome is caused by the unstable expansion of a CGG repeat in the FMR-1 gene. 8401578 1993
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 Biomarker disease CLINGEN We screened a cohort of patients with typical FXS symptoms who tested negative for CGG repeat expansion in the FMR1 locus. 25693964 2015
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 Biomarker disease CLINGEN The early transcription of FMR-1 gene and the distribution of FMR-1 mRNAs in human fetuses suggest that alterations of FMR-1 gene expression may contribute to the pathogenesis of fragile-X syndrome and especially the mental retardation. 8348153 1993
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 GeneticVariation disease UNIPROT Here, we present an X-ray crystal structure of the tandem KH domains of human FMRP, which reveals the relative orientation of the KH1 and KH2 domains and the location of residue Ile304, whose mutation to Asn is associated with a particularly severe incidence of Fragile X syndrome. 17850748 2007
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 Biomarker disease CLINGEN Tissue specific expression of FMR-1 provides evidence for a functional role in fragile X syndrome. 8490651 1993
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 Biomarker disease CTD_human Mice with deletion of the fragile X mental retardation 1 (Fmr1) gene are used to model autism because loss of Fmr1 gene function causes Fragile X Syndrome (FXS) and many people with FXS exhibit autistic-like behaviors. 20300527 2010
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 Biomarker disease CLINGEN Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. 1675488 1991
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 GeneticVariation disease UNIPROT Transport kinetics of FMRP containing the I304N mutation of severe fragile X syndrome in neurites of living rat PC12 cells. 15380484 2004
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 Biomarker disease CLINGEN Fragile X mental retardation syndrome is caused by the unstable expansion of a CGG repeat in the FMR-1 gene. 8401578 1993