TAPBP, TAP binding protein, 6892

N. diseases: 86; N. variants: 9
Disease: Severe Combined Immunodeficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		0.010 Biomarker disease LHGDN A subject with a novel type I bare lymphocyte syndrome has tapasin deficiency due to deletion of 4 exons by Alu-mediated recombination. 12149238 2002