Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 Biomarker BEFREE We checked brain energy status and some aspects of cell bioenergetics, namely the activity of key glycolytic enzymes, glycerol-3-phosphate shuttle and mitochondrial respiratory chain (MRC) complexes, in the cerebral cortex of the Fmr1 knockout (KO) mouse model of FXS. 31702995

2020

Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 AlteredExpression BEFREE Unlike fragile X syndrome (FXS), FMR1 expression in response to α-syn was regulated by a mechanism involving Protein Kinase C (PKC) and cAMP response element-binding protein (CREB). 31768670

2020

Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 Biomarker BEFREE Our results demonstrate that sound exposure, but not attenuation, during early developmental window restores molecular, cellular and functional properties in the auditory cortex of Fmr1 KO mice, and suggest this approach as a potential treatment for sensory phenotypes in FXS. 31698054

2020

Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 GeneticVariation BEFREE Relatedly, hippocampal long-term potentiation (LTP) is impaired in the Fmr1 knockout (KO) mouse model of FXS. 31494285

2020

Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 GeneticVariation BEFREE Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by a single genetic mutation in the Fmr1 gene, serving as the largest genetic cause of intellectual disability. 31838149

2020

Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 Biomarker BEFREE The cytoplasmic FMR1-interacting protein family (CYFIP1 and CYFIP2) are evolutionarily conserved proteins originally identified as binding partners of the fragile X mental retardation protein (FMRP), a messenger RNA (mRNA)-binding protein whose loss causes the fragile X syndrome. 30982501

2019

Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 GeneticVariation BEFREE Fragile X syndrome (FXS) and associated disorders are caused by expansion of the cytosine-guanine-guanine (CGG) trinucleotide repeat in the 5' untranslated region (UTR) of the Fragile X mental retardation-1 (FMR1) gene promoter. 31566610

2019

Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 Biomarker BEFREE Humans with FXS and Fmr1 KO mice show abnormalities in acoustic startle response (ASR) and prepulse inhibition (PPI) of startle, responses commonly used to quantify sensorimotor gating. 31128097

2019

Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 Biomarker BEFREE Consistent with the observations in humans with FXS, fragile X mental retardation 1 ( Fmr1) gene knockout (KO) rodent models of FXS also show seizures, abnormal visual-evoked responses, auditory hypersensitivity, and abnormal processing at multiple levels of the auditory system, including altered acoustic startle responses. 30231625

2019

Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 AlteredExpression BEFREE This study reveals a novel FMRP mechanism controlling neuronal PKA activity, and demonstrates a shared mechanistic connection between FXS and NBEA associated ASD disease states, with a common link to PKA and F-actin misregulation in brain neural circuits. 30771457

2019

Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 AlteredExpression BEFREE Systemic treatment with a DNMT inhibitor in mice carrying FXS induced pluripotent stem cell (iPSC)-derived transplants robustly induced FMR1 expression in the affected tissue, which was maintained for a prolonged period of time. 30840878

2019

Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 Biomarker BEFREE Fragile X mental retardation 1 (FMR1) CGG repeat expansions cause fragile X syndrome-the leading monogenic form of intellectual disability-and increase the risk for fragile X-associated tremor ataxia syndrome and fragile X-associated primary ovarian insufficiency. 30847793

2019

Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 AlteredExpression BEFREE In fragile X syndrome (FXS) embryos FMRP is widely expressed during early stages of embryogenesis however it is inactivated by the end of the first trimester. 30900178

2019

Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 Biomarker BEFREE The Fmr1 knockout (KO) mouse is a commonly studied pre-clinical model of FXS. 31271818

2019

Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 Biomarker BEFREE In both humans with FXS and a mouse model [Fmr1 knockout (KO) mouse], electroencephalographic (EEG) recordings show enhanced resting state gamma power and reduced sound-evoked gamma synchrony. 31364704

2019

Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 Biomarker BEFREE Our data unveil mitochondrial dysfunction as a contributor to the impaired dendritic maturation of FMRP-deficient neurons and suggest a role for interactions between FMRP and HTT in the pathogenesis of fragile X syndrome. 30742117

2019

Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 Biomarker BEFREE Fragile X syndrome (FXS) is caused by silencing of the <i>FMR1</i> gene leading to loss of the protein product fragile X mental retardation protein (FMRP). 30654445

2019

Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 Biomarker BEFREE One of the most robust neuropathological findings in post-mortem human FXS and Fmr1 KO mice is the abnormal increase in dendritic spine densities, with the majority of spines showing an elongated immature morphology. 31200759

2019

Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 GeneticVariation BEFREE FXS usually results when a premutation trinucleotide CGG repeat in the 5' untranslated region of the FMR1 gene (CGG 55-200) expands over generations to a full mutation allele (CGG >200). 30084485

2019

Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 Biomarker BEFREE Neurosphere differentiation of cortical progenitors derived from brains of Fmr1-KO mice has been shown to reflect disordered mechanisms during cortical development in FXS in vivo. 30900176

2019

Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 Biomarker BEFREE The absence of the FMRP protein is responsible for the clinical phenotype of FXS. 31804632

2019

Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 GeneticVariation BEFREE Women who carry an FMR1 premutation (PM) allele and are mothers of children with fragile X syndrome (FXS) experience elevated maternal stress. 30959430

2019

Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 GeneticVariation BEFREE The methods used for clinical genetic testing of FXS include polymerase chain reaction (PCR) amplification and Southern blot analyses, which effectively detect alleles with repeats in the normal, intermediate, premutation, and full mutation size ranges, as well as the methylation status of FMR1 promoter region. 30900172

2019

Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 Biomarker BEFREE We also observed genotypic differences characteristic of the FXS phenotype in Fmr1 KO mice, such as enhanced prepulse inhibition and repetitive behavior, hyperactivity, and reduced startle responses (p <  0.05). 31520894

2019

Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 GeneticVariation BEFREE Then, two fragile X syndrome (3%, 2/75) were confirmed by FMR1 gene fragment analysis. 30402882

2019