RFX1, regulatory factor X1, 5989

N. diseases: 47; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931418
Disease: Bare lymphocyte syndrome 2
Bare lymphocyte syndrome 2 		0.030 Biomarker disease BEFREE Purified X2 binding protein (X2BP) cooperatively binds the class II MHC X box region in the presence of purified RFX, the X box factor deficient in the bare lymphocyte syndrome. 7594590 1995
CUI: C0242583
Disease: Bare Lymphocyte Syndrome
Bare Lymphocyte Syndrome 		0.010 Biomarker disease BEFREE Purified X2 binding protein (X2BP) cooperatively binds the class II MHC X box region in the presence of purified RFX, the X box factor deficient in the bare lymphocyte syndrome. 7594590 1995
CUI: C2931418
Disease: Bare lymphocyte syndrome 2
Bare lymphocyte syndrome 2 		0.030 AlteredExpression disease BEFREE This provides the first direct functional evidence that RFX is an activator of MHC class II gene transcription and that its absence is indeed responsible for the regulatory defect in MHC class II gene expression in patients with BLS. 7935401 1994
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		0.010 Biomarker disease BEFREE Interactions of the transcription factors MIBP1 and RFX1 with the EP element of the hepatitis B virus enhancer. 8709229 1996
CUI: C0017638
Disease: Glioma
Glioma 		0.030 Biomarker disease BEFREE Two human glioma cell lines (U-251 MG and U-373 MG) that express mutant p53 protein and two (U-87 MG and EFC-2) that express wild-type p53 protein were used. 9230885 1997
CUI: C2931418
Disease: Bare lymphocyte syndrome 2
Bare lymphocyte syndrome 2 		0.030 GeneticVariation disease BEFREE In type III bare lymphocyte syndrome (BLS) patients, defects in the RFX protein complex result in a lack of MHC class II and reduced MHC class I cell surface expression. 9806639 1998
CUI: C0017638
Disease: Glioma
Glioma 		0.030 Biomarker disease BEFREE In four human glioma cell lines (U-251 and LG expressing endogenous mutant p53, and U-87 and EFC-2 expressing wild-type p53) and two rat glioma cell lines (9L and C6, each expressing mutant and wild-type p53), gene transfer efficiency determined by X-gal staining and Western blotting was varied (10-99% at 10-500 multiplicity of infection, MOI). 10895975 2000
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.010 AlteredExpression disease BEFREE We show that phagocytic macrophages in active demyelinating MS lesions displayed a moderate to strong immunostaining of the MHC-specific transcription factors RFX and CIITA, as well as the general transcription factors NF-kappaB, IRF1, STAT1, USF, and CREB, which was congruent with a strongly enhanced expression of HLA-DR, HLA-DQ, HLA-DP, and HLA class I. 11571785 2001
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.010 AlteredExpression disease BEFREE Finally, we demonstrate that all available Caenorhabditis elegans BBS homologues are expressed exclusively in ciliated neurons, and contain regulatory elements for RFX, a transcription factor that modulates the expression of genes associated with ciliogenesis and intraflagellar transport. 14520415 2003
CUI: C0017638
Disease: Glioma
Glioma 		0.030 AlteredExpression disease BEFREE Treatment of glioma cells with a demethylating agent, 5-azacytidine, resulted in the expression of RFX1, indicating that the silencing of the RFX1 gene may be attributable to its methylation. 15334059 2004
CUI: C0017638
Disease: Glioma
Glioma 		0.030 Biomarker disease LHGDN Taken together, these results suggest that the RFX1 gene may be epigenetically silenced in human gliomas and involved in glioma tumorigenesis. 15334059 2004
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 Biomarker phenotype BEFREE Taken together, these results suggest that the RFX1 gene may be epigenetically silenced in human gliomas and involved in glioma tumorigenesis. 15334059 2004
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.010 Biomarker disease BEFREE In conclusion, RFX proteins not only regulate genes involved in ciliary assembly, but also genes that are involved in ciliary motility and that are associated with ciliopathies such as primary ciliary dyskinesia in humans. 19671664 2009
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.010 Biomarker disease BEFREE In conclusion, RFX proteins not only regulate genes involved in ciliary assembly, but also genes that are involved in ciliary motility and that are associated with ciliopathies such as primary ciliary dyskinesia in humans. 19671664 2009
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.010 Biomarker disease BEFREE In conclusion, RFX proteins not only regulate genes involved in ciliary assembly, but also genes that are involved in ciliary motility and that are associated with ciliopathies such as primary ciliary dyskinesia in humans. 19671664 2009
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.020 AlteredExpression disease BEFREE Overexpression of RFX1 was shown to down-regulate FGF-1B mRNA expression and neurosphere formation in human glioblastoma cells, whereas RNA interference knockdown of RFX1 demonstrated the opposite effects. 20189986 2010
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.020 AlteredExpression disease BEFREE Overexpression of RFX1 was shown to down-regulate FGF-1B mRNA expression and neurosphere formation in human glioblastoma cells, whereas RNA interference knockdown of RFX1 demonstrated the opposite effects. 20189986 2010
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.020 AlteredExpression disease BEFREE Overexpression of RFX1 was shown to down-regulate FGF-1B mRNA expression and neurosphere formation in human glioblastoma cells, whereas RNA interference knockdown of RFX1 demonstrated the opposite effects. 20189986 2010
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.020 AlteredExpression disease BEFREE Overexpression of RFX1 was shown to down-regulate FGF-1B mRNA expression and neurosphere formation in human glioblastoma cells, whereas RNA interference knockdown of RFX1 demonstrated the opposite effects. 20189986 2010
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.050 Biomarker disease BEFREE These findings reveal a crucial role for RFX1 in regulating the epigenetic status of T cells, and demonstrate that autoimmune responses in SLE are due in part to RFX1 downregulation. 20223637 2010
CUI: C0024131
Disease: Lupus Vulgaris
Lupus Vulgaris 		0.030 Biomarker disease BEFREE Reducing RFX1 in CD4(+) T cells is sufficient to cause lupus-like T and B cell hyperactivity, whereas overexpressing RFX1 suppresses T cell reactivity. 20223637 2010
CUI: C0024138
Disease: Lupus Erythematosus, Discoid
Lupus Erythematosus, Discoid 		0.030 Biomarker disease BEFREE Reducing RFX1 in CD4(+) T cells is sufficient to cause lupus-like T and B cell hyperactivity, whereas overexpressing RFX1 suppresses T cell reactivity. 20223637 2010
CUI: C0409974
Disease: Lupus Erythematosus
Lupus Erythematosus 		0.030 Biomarker disease BEFREE Reducing RFX1 in CD4(+) T cells is sufficient to cause lupus-like T and B cell hyperactivity, whereas overexpressing RFX1 suppresses T cell reactivity. 20223637 2010
CUI: C0014060
Disease: Encephalitis, St. Louis
Encephalitis, St. Louis 		0.010 Biomarker disease BEFREE Epigenetics and SLE: RFX1 downregulation causes CD11a and CD70 overexpression by altering epigenetic modifications in lupus CD4+ T cells. 20223637 2010
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.010 Biomarker phenotype BEFREE Reducing RFX1 in CD4(+) T cells is sufficient to cause lupus-like T and B cell hyperactivity, whereas overexpressing RFX1 suppresses T cell reactivity. 20223637 2010