TAPBP, TAP binding protein, 6892

N. diseases: 86; N. variants: 9
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 		0.610 Biomarker disease BEFREE These results suggest that tapasin deficiency is another cause of type I BLS. 12149238 2002
CUI: C1858266
Disease: Bare Lymphocyte Syndrome, Type I
Bare Lymphocyte Syndrome, Type I 		0.610 GermlineCausalMutation disease ORPHANET 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
CUI: C1858266
Disease: Bare Lymphocyte Syndrome, Type I
Bare Lymphocyte Syndrome, Type I 		0.610 Biomarker disease GENOMICS_ENGLAND 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
CUI: C1858266
Disease: Bare Lymphocyte Syndrome, Type I
Bare Lymphocyte Syndrome, Type I 		0.610 Biomarker disease CTD_human