FXR1, FMR1 autosomal homolog 1, 8087

N. diseases: 53; N. variants: 7
Disease: Fragile X Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		0.050 Biomarker disease BEFREE The functions of FXR1P and FXR2P and their possible roles in producing or modulating the phenotype observed in FXS are yet to be identified. 30654445 2019
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: 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: 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: 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