NXF1, nuclear RNA export factor 1, 10482

N. diseases: 141; N. variants: 0
Disease: Malnutrition ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162429
Disease: Malnutrition
Malnutrition 		0.030 Biomarker disease BEFREE TAP deficiency syndrome, also known as bare lymphocyte syndrome type I, is a rare primary immunodeficiency disorder. 30189467 2018
CUI: C0162429
Disease: Malnutrition
Malnutrition 		0.030 GeneticVariation disease BEFREE Major histocompatibility complex (MHC) class I deficiency syndrome is a rare primary immunodeficiency caused by mutations in the peptide transporter complex associated with antigen presentation (TAP) gene which plays a crucial role in intracellular peptide antigen presentation.A few cases have been reported to date. 28161407 2017
CUI: C0162429
Disease: Malnutrition
Malnutrition 		0.030 Biomarker disease BEFREE A previously unreported case of transporter associated with antigen processing (TAP) deficiency syndrome (with no parental consanguinity) due to a homozygous TAP2 mutation is presented. 23662797 2014