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: C0376280
Disease: Anxiety States, Neurotic
Anxiety States, Neurotic 		0.300 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: C1279420
Disease: Anxiety neurosis (finding)
Anxiety neurosis (finding) 		0.300 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: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		0.300 Biomarker disease CTD_human Fragile x syndrome. 22043169 2011
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 Fragile x syndrome. 22043169 2011
CUI: C0949331
Disease: Gonadal Agenesis
Gonadal Agenesis 		0.300 Biomarker disease CTD_human Fragile x syndrome. 22043169 2011
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		0.300 Biomarker disease CTD_human FMR1 gene expansion, large deletion of Xp, and skewed X-inactivation in a girl with mental retardation and autism. 20425835 2010
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: C0917816
Disease: Mental deficiency
Mental deficiency 		0.300 Biomarker disease CTD_human FMR1 gene expansion, large deletion of Xp, and skewed X-inactivation in a girl with mental retardation and autism. 20425835 2010
CUI: C3275521
Disease: CHROMOSOME Xq27.3-q28 DUPLICATION SYNDROME
CHROMOSOME Xq27.3-q28 DUPLICATION SYNDROME 		0.300 ChromosomalRearrangement disease ORPHANET Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition. 19844254 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: 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: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		0.300 Biomarker disease 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 Single-strand conformation polymorphism analysis of the FMR1 gene in autistic and mentally retarded children in Japan. 15000256 2004
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		0.300 Biomarker disease CTD_human Single-strand conformation polymorphism analysis of the FMR1 gene in autistic and mentally retarded children in Japan. 15000256 2004
CUI: C0086367
Disease: Gonadotropin-Resistant Ovary Syndrome
Gonadotropin-Resistant Ovary Syndrome 		0.300 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: C3494522
Disease: Hypergonadotropic Ovarian Failure, X-Linked
Hypergonadotropic Ovarian Failure, X-Linked 		0.300 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: 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: C0041696
Disease: Unipolar Depression
Unipolar Depression 		0.310 Biomarker disease PSYGENET In the current study, we have expanded our previous studies to examine the protein and mRNA expression of two novel GABAA receptors, theta (GABRθ) and rho 2 (GABRρ2) as well as FMRP, and metabotropic glutamate receptor 5 (mGluR5) in lateral cerebella of subjects with schizophrenia, bipolar disorder, major depression and healthy controls, and in superior frontal cortex (Brodmann Area 9 (BA9)) of subjects with schizophrenia, bipolar disorder and healthy controls. 23778581 2013
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: C0041696
Disease: Unipolar Depression
Unipolar Depression 		0.310 Biomarker disease PSYGENET Major depression in females with the FMR1 premutation may not be characterized as an episodically chronic recurrent disorder as it is in community samples and may have a genetic basis given the relationship with CGG repeat length and lack of association with all child and most demographic factors. 18553360 2009
CUI: C0338908
Disease: Mixed anxiety and depressive disorder
Mixed anxiety and depressive disorder 		0.310 Biomarker disease PSYGENET Conversion disorder in women with the FMR1 premutation. 19842197 2009
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: 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