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
0.720 Biomarker disease BEFREE Deficiencies in four proteins that regulate MHC II genes in humans (RFX-B, RFX5, RFXAP, and CIITA) cause an inherited immunodeficiency disorder known as the bare lymphocyte syndrome (BLS). 15655668 2005
CUI: C2931418
Disease: Bare lymphocyte syndrome 2
Bare lymphocyte syndrome 2
0.720 GeneticVariation disease UNIPROT Three novel mutations of the CIITA gene in MHC class II-deficient patients with a severe immunodeficiency. 11862382 2002
CUI: C2931418
Disease: Bare lymphocyte syndrome 2
Bare lymphocyte syndrome 2
0.720 GeneticVariation disease UNIPROT Mutation in the class II trans-activator leading to a mild immunodeficiency. 11466404 2001
CUI: C2931418
Disease: Bare lymphocyte syndrome 2
Bare lymphocyte syndrome 2
0.720 GeneticVariation disease UNIPROT Absence of MHC class II gene expression in a patient with a single amino acid substitution in the class II transactivator protein CIITA. 10501838 1999
CUI: C2931418
Disease: Bare lymphocyte syndrome 2
Bare lymphocyte syndrome 2
0.720 Biomarker disease BEFREE Correction of defective expression in MHC class II deficiency (bare lymphocyte syndrome) cells by retroviral transduction of CIITA. 9233601 1997
CUI: C2931418
Disease: Bare lymphocyte syndrome 2
Bare lymphocyte syndrome 2
0.720 GeneticVariation disease UNIPROT Activation of class II MHC genes requires both the X box region and the class II transactivator (CIITA). 7749984 1995
CUI: C2931418
Disease: Bare lymphocyte syndrome 2
Bare lymphocyte syndrome 2
0.720 CausalMutation disease CLINVAR Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome). 8402893 1993
CUI: C2931418
Disease: Bare lymphocyte syndrome 2
Bare lymphocyte syndrome 2
0.720 GeneticVariation disease UNIPROT Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome). 8402893 1993
CUI: C2931418
Disease: Bare lymphocyte syndrome 2
Bare lymphocyte syndrome 2
0.720 Biomarker disease CTD_human
CUI: C2931418
Disease: Bare lymphocyte syndrome 2
Bare lymphocyte syndrome 2
0.720 GermlineCausalMutation disease ORPHANET