NXF5, nuclear RNA export factor 5, 55998

N. diseases: 8; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.320 GeneticVariation group BEFREE We previously reported on the loss of NXF5 in a male patient with a syndromic form of intellectual disability. 23675524 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.320 Biomarker group GENOMICS_ENGLAND De novo duplication of Xq22.1→q24 with a disruption of the NXF gene cluster in a mentally retarded woman with short stature and premature ovarian failure. 22030050 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.320 Biomarker group BEFREE NXF5, a novel member of the nuclear RNA export factor family, is lost in a male patient with a syndromic form of mental retardation. 11566096 2001
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		0.310 Biomarker disease GENOMICS_ENGLAND Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene. 23686279 2013
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		0.310 GeneticVariation disease BEFREE Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene. 23686279 2013
CUI: C4049702
Disease: Focal Segmental Glomerulosclerosis, Not Otherwise Specified
Focal Segmental Glomerulosclerosis, Not Otherwise Specified 		0.310 Biomarker disease GENOMICS_ENGLAND Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene. 23686279 2013
CUI: C4049702
Disease: Focal Segmental Glomerulosclerosis, Not Otherwise Specified
Focal Segmental Glomerulosclerosis, Not Otherwise Specified 		0.310 GeneticVariation disease BEFREE Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene. 23686279 2013
CUI: C0018794
Disease: Heart Block
Heart Block 		0.010 GeneticVariation disease BEFREE Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene. 23686279 2013
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		0.010 Biomarker disease BEFREE The NXF5 gene is an appealing candidate for POF because it shows functional homology with the FMR1 (fragile X mental retardation 1) gene. 20338563 2010
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.010 Biomarker disease BEFREE The NXF5 gene is an appealing candidate for POF because it shows functional homology with the FMR1 (fragile X mental retardation 1) gene. 20338563 2010
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.010 GeneticVariation disease LHGDN Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 gene. 12784308 2003
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.010 Biomarker disease BEFREE NXF5, a novel member of the nuclear RNA export factor family, is lost in a male patient with a syndromic form of mental retardation. 11566096 2001