PBX1, PBX homeobox 1, 5087

N. diseases: 167; N. variants: 14
Disease: Lupus Erythematosus, Discoid ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024138
Disease: Lupus Erythematosus, Discoid
Lupus Erythematosus, Discoid 		0.040 GeneticVariation disease BEFREE The PBX1 lupus susceptibility gene regulates CD44 expression. 28257976 2017
CUI: C0024138
Disease: Lupus Erythematosus, Discoid
Lupus Erythematosus, Discoid 		0.040 Biomarker disease BEFREE These findings indicate that Pbx1 is a novel lupus susceptibility gene that regulates T cell activation and tolerance. 22180614 2012
CUI: C0024138
Disease: Lupus Erythematosus, Discoid
Lupus Erythematosus, Discoid 		0.040 Biomarker disease BEFREE We have shown that the CD4(+) T-cell expression of a novel splice isoform of Pbx1, Pbx1-d, is associated with lupus susceptibility in the NZM2410 mouse and in lupus patients. 22992721 2012
CUI: C0024138
Disease: Lupus Erythematosus, Discoid
Lupus Erythematosus, Discoid 		0.040 GeneticVariation disease BEFREE This perspective summarizes the known roles of Pbx1 in tissue differentiation as well as our recent findings associating genetic variations in Pbx1 to lupus susceptibility, and we will speculate on how this gene controls the maintenance of immune tolerance in T cells. 22231354 2011