NXF1, nuclear RNA export factor 1, 10482

N. diseases: 141; N. variants: 0
Disease: Bare Lymphocyte Syndrome, Type I ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1858266
Disease: Bare Lymphocyte Syndrome, Type I
Bare Lymphocyte Syndrome, Type I 		0.030 GeneticVariation disease BEFREE Most of patients suffering from HLA class I deficiency due to mutations in TAP genes show a significative increase of the peripheral minor Vdelta1+ subpopulation of gammadelta T cells. 12644316 2003
CUI: C1858266
Disease: Bare Lymphocyte Syndrome, Type I
Bare Lymphocyte Syndrome, Type I 		0.030 Biomarker disease BEFREE In the present study, we examined a subject with a novel type I BLS who does not exhibit apparent TAP abnormalities but who has a tapasin defect. 12149238 2002
CUI: C1858266
Disease: Bare Lymphocyte Syndrome, Type I
Bare Lymphocyte Syndrome, Type I 		0.030 GeneticVariation disease BEFREE Homozygous human TAP peptide transporter mutation in HLA class I deficiency. 7517574 1994