FXR1, FMR1 autosomal homolog 1, 8087

N. diseases: 53; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.300 GeneticVariation disease UNIPROT
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		0.050 Biomarker disease BEFREE FXR1 and FXR2 are thus likely to play important roles in the function of FMR1 and in the pathogenesis of the Fragile X Mental Retardation Syndrome. 7489725 1995
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.030 AlteredExpression disease LHGDN Three genes, namely FXR1, CLAPM1 and EIF4G, are most frequently overexpressed in the center of the amplified domain in squamous cell carcinomas. 17290396 2007
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.030 AlteredExpression disease BEFREE Three genes, namely FXR1, CLAPM1 and EIF4G, are most frequently overexpressed in the center of the amplified domain in squamous cell carcinomas. 17290396 2007
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.030 AlteredExpression disease BEFREE Other proteins of the RNA-induced silencing complex (RISC; SND1, PACT, and FXR1) were also present at higher levels in a SCC cell line when compared with an adenocarcinoma cell line. 17332367 2007
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 AlteredExpression group BEFREE Other proteins of the RNA-induced silencing complex (RISC; SND1, PACT, and FXR1) were also present at higher levels in a SCC cell line when compared with an adenocarcinoma cell line. 17332367 2007
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		0.050 Biomarker disease BEFREE The Fragile X Mental retardation-Related 1 (FXR1) gene belongs to the fragile X related family, that also includes the Fragile X Mental Retardation (FMR1) gene involved in fragile X syndrome, the most common form of inherited mental retardation. 18628314 2008
CUI: C0238288
Disease: Muscular Dystrophy, Facioscapulohumeral
Muscular Dystrophy, Facioscapulohumeral 		0.030 AlteredExpression disease LHGDN In addition, since FXR1P is an RNA binding protein likely to regulate the metabolism of muscle specific mRNAs during myogenesis, its altered expression in FSHD myoblasts may contribute to the physiopathology of this disease. 18628314 2008
CUI: C0238288
Disease: Muscular Dystrophy, Facioscapulohumeral
Muscular Dystrophy, Facioscapulohumeral 		0.030 AlteredExpression disease BEFREE In addition, since FXR1P is an RNA binding protein likely to regulate the metabolism of muscle specific mRNAs during myogenesis, its altered expression in FSHD myoblasts may contribute to the physiopathology of this disease. 18628314 2008
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.020 GeneticVariation group BEFREE The Fragile X Mental retardation-Related 1 (FXR1) gene belongs to the fragile X related family, that also includes the Fragile X Mental Retardation (FMR1) gene involved in fragile X syndrome, the most common form of inherited mental retardation. 18628314 2008
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.010 GeneticVariation disease BEFREE The Fragile X Mental retardation-Related 1 (FXR1) gene belongs to the fragile X related family, that also includes the Fragile X Mental Retardation (FMR1) gene involved in fragile X syndrome, the most common form of inherited mental retardation. 18628314 2008
CUI: C0238288
Disease: Muscular Dystrophy, Facioscapulohumeral
Muscular Dystrophy, Facioscapulohumeral 		0.030 Biomarker disease BEFREE FXR1P plays an important role in normal muscle development and has been implicated in facioscapulohumeral muscular dystrophy (FSHD). 20519410 2010
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		0.050 GeneticVariation disease BEFREE The Fragile X-Related 1 gene (FXR1) is a paralog of the Fragile X Mental Retardation 1 gene (FMR1), whose absence causes the Fragile X syndrome, the most common form of inherited intellectual disability. 23555284 2013
CUI: C0238288
Disease: Muscular Dystrophy, Facioscapulohumeral
Muscular Dystrophy, Facioscapulohumeral 		0.030 AlteredExpression disease BEFREE We observed an increase of p21--a regulator of cell-cycle progression--in Fxr1-knocked-down mouse C2C12 and FSHD human myoblasts. 23555284 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.020 GeneticVariation group BEFREE The Fragile X-Related 1 gene (FXR1) is a paralog of the Fragile X Mental Retardation 1 gene (FMR1), whose absence causes the Fragile X syndrome, the most common form of inherited intellectual disability. 23555284 2013
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.060 AlteredExpression group BEFREE Collectively, PKP1/3-associated RBPs FXR1 and UPF1 may have a functional role in prostate cancer progression and metastasis and highlight the potential importance of posttranscriptional regulation of gene expression and nonsense-mediated decay in cancer. 23881279 2013
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 AlteredExpression group BEFREE Collectively, PKP1/3-associated RBPs FXR1 and UPF1 may have a functional role in prostate cancer progression and metastasis and highlight the potential importance of posttranscriptional regulation of gene expression and nonsense-mediated decay in cancer. 23881279 2013
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.020 Biomarker phenotype BEFREE Collectively, PKP1/3-associated RBPs FXR1 and UPF1 may have a functional role in prostate cancer progression and metastasis and highlight the potential importance of posttranscriptional regulation of gene expression and nonsense-mediated decay in cancer. 23881279 2013
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.020 Biomarker disease BEFREE Collectively, PKP1/3-associated RBPs FXR1 and UPF1 may have a functional role in prostate cancer progression and metastasis and highlight the potential importance of posttranscriptional regulation of gene expression and nonsense-mediated decay in cancer. 23881279 2013
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.020 Biomarker disease BEFREE Collectively, PKP1/3-associated RBPs FXR1 and UPF1 may have a functional role in prostate cancer progression and metastasis and highlight the potential importance of posttranscriptional regulation of gene expression and nonsense-mediated decay in cancer. 23881279 2013
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		0.050 Biomarker disease BEFREE We report a functional association between lamin A and fragile X-related protein 1 (FXR1P), a protein of the fragile X-related family involved in fragile X syndrome. 24108105 2014
CUI: C0025202
Disease: melanoma
melanoma 		0.020 AlteredExpression disease BEFREE Four genes (HTR2B, FXR1, LTA4H and CDH1) demonstrated increased expression in the metastasising uveal melanomas. 24580015 2013
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.060 AlteredExpression group BEFREE Because FXR1 is overexpressed and associated with poor clinical outcomes in multiple cancers, these results have implications for other solid malignancies. 25733852 2015
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.020 Biomarker disease BEFREE FXR1 expression is a candidate biomarker predictive of poor survival in multiple solid tumors including NSCLCs. 25733852 2015
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.020 AlteredExpression phenotype BEFREE Here we demonstrate that FXR1 is a key regulator of tumor progression and its overexpression is critical for nonsmall cell lung cancer (NSCLC) cell growth in vitro and in vivo. 25733852 2015