B2M, beta-2-microglobulin, 567

N. diseases: 352; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931418
Disease: Bare lymphocyte syndrome 2
Bare lymphocyte syndrome 2
0.020 AlteredExpression disease BEFREE These results suggest that the bare lymphocyte syndrome may represent a pretranslational regulatory defect of both class I and beta 2-microglobulin gene expression. 3894422 1985
CUI: C2931418
Disease: Bare lymphocyte syndrome 2
Bare lymphocyte syndrome 2
0.020 AlteredExpression disease BEFREE The bare-lymphocyte syndrome is characterised by a combined immunodeficiency associated with the lack of expression of HLA A, B, and C antigens and the absence of beta 2 microglobulin on lymphocytes. 6162064 1981