Disease: B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551967
Disease: B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY
B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY 		0.710 GeneticVariation disease UNIPROT Germline hypomorphic CARD11 mutations in severe atopic disease. 28628108 2017
CUI: C4551967
Disease: B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY
B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY 		0.710 Biomarker disease GENOMICS_ENGLAND Monogenic immune disorders and severe atopic disease. 28747751 2017
CUI: C4551967
Disease: B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY
B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY 		0.710 GeneticVariation disease BEFREE B cell Expansion with NF-κB and T cell Anergy (BENTA) disease is a novel B cell lymphoproliferative disorder caused by germline, gain-of-function mutations in the lymphocyte scaffolding protein CARD11, which drives constitutive NF-κB signaling. 28824638 2017
CUI: C4551967
Disease: B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY
B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY 		0.710 GermlineCausalMutation disease ORPHANET Mild B-cell lymphocytosis in patients with a CARD11 C49Y mutation. 25930198 2015
CUI: C4551967
Disease: B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY
B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY 		0.710 Biomarker disease GENOMICS_ENGLAND Germline CARD11 Mutation in a Patient with Severe Congenital B Cell Lymphocytosis. 25352053 2015
CUI: C4551967
Disease: B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY
B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY 		0.710 GermlineCausalMutation disease ORPHANET Germline CARD11 Mutation in a Patient with Severe Congenital B Cell Lymphocytosis. 25352053 2015
CUI: C4551967
Disease: B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY
B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY 		0.710 GeneticVariation disease UNIPROT Congenital B cell lymphocytosis explained by novel germline CARD11 mutations. 23129749 2012
CUI: C4551967
Disease: B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY
B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY 		0.710 GermlineCausalMutation disease ORPHANET Congenital B cell lymphocytosis explained by novel germline CARD11 mutations. 23129749 2012
CUI: C4551967
Disease: B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY
B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY 		0.710 CausalMutation disease CLINVAR
CUI: C4551967
Disease: B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY
B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY 		0.710 Biomarker disease CTD_human