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 		0.640 AlteredExpression disease BEFREE Here, we report a case with type III BLS who lacked RFXAP (Regulatory factor X-associated protein) expression as a result from a novel mutation introducing a premature stopcodon in DE-region at amino acid 73. 22390233 2012
CUI: C2931418
Disease: Bare lymphocyte syndrome 2
Bare lymphocyte syndrome 2 		0.640 Biomarker disease BEFREE The C-terminal third of RFXAP, which contained an extensive glutamine-rich tract, could rescue HLA-DR, but not HLA-DQ or HLA-DP expression in a BLS cell line. 16337482 2006
CUI: C2931418
Disease: Bare lymphocyte syndrome 2
Bare lymphocyte syndrome 2 		0.640 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 		0.640 Biomarker disease BEFREE Moreover, mutant RFXANK(B) and RFXAP proteins from complementation groups B and D of BLS, respectively, cannot support this interaction. 10825209 2000
CUI: C2931418
Disease: Bare lymphocyte syndrome 2
Bare lymphocyte syndrome 2 		0.640 CausalMutation disease CLINVAR
CUI: C2931418
Disease: Bare lymphocyte syndrome 2
Bare lymphocyte syndrome 2 		0.640 GermlineCausalMutation disease ORPHANET
CUI: C2931418
Disease: Bare lymphocyte syndrome 2
Bare lymphocyte syndrome 2 		0.640 Biomarker disease CTD_human
CUI: C1859537
Disease: Bare Lymphocyte Syndrome, Type II, Complementation Group D
Bare Lymphocyte Syndrome, Type II, Complementation Group D 		0.400 Biomarker disease GENOMICS_ENGLAND The RFX complex is crucial for the constitutive and CIITA-mediated transactivation of MHC class I and beta2-microglobulin genes. 9806639 1998
CUI: C1859537
Disease: Bare Lymphocyte Syndrome, Type II, Complementation Group D
Bare Lymphocyte Syndrome, Type II, Complementation Group D 		0.400 CausalMutation disease CLINVAR
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia 		0.100 Biomarker disease HPO
CUI: C0002880
Disease: Autoimmune hemolytic anemia
Autoimmune hemolytic anemia 		0.100 Biomarker disease HPO
CUI: C0006845
Disease: Candidiasis, Chronic Mucocutaneous
Candidiasis, Chronic Mucocutaneous 		0.100 Biomarker disease HPO
CUI: C0008311
Disease: Cholangitis
Cholangitis 		0.100 Biomarker disease HPO
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.100 Biomarker disease HPO
CUI: C0009319
Disease: Colitis
Colitis 		0.100 Biomarker disease HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0014038
Disease: Encephalitis
Encephalitis 		0.100 Biomarker disease HPO
CUI: C0015230
Disease: Exanthema
Exanthema 		0.100 Biomarker phenotype HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		0.100 Biomarker group HPO
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.100 Biomarker disease HPO
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.100 Biomarker disease HPO
CUI: C0035455
Disease: Rhinitis
Rhinitis 		0.100 Biomarker disease HPO
CUI: C0037199
Disease: Sinusitis
Sinusitis 		0.100 Biomarker disease HPO
CUI: C0042721
Disease: Viral hepatitis
Viral hepatitis 		0.100 Biomarker group HPO