Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		0.700 GeneticVariation disease BEFREE Based on our recent finding that TACI is mutated in patients with common variable immunodeficiency, of whom more than 30% suffer from autoimmune conditions, we analyzed TACI in humans with SLE. 17464555 2007
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		0.700 GeneticVariation disease BEFREE Disease-modifying heterozygous amino acid substitutions in TACI are found in around ±10% of CVID patients. 21815909 2011
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		0.700 GeneticVariation disease BEFREE Both biallelic and monoallelic TNFRSF13B mutations were identified in patients with common variable immunodeficiency disorders. 18981294 2009
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		0.700 GeneticVariation disease BEFREE A significant association of TNFRSF13B gene mutations was observed in both CVID (p=0.01) and IgAD (p=0.002) Czech patients. 22884984 2012
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		0.700 GeneticVariation disease BEFREE This review focuses on mutations causing four different diseases, which represent distinct pathological mechanisms that can exist within these superfamilies: autoimmune lymphoproliferative syndrome (ALPS; FAS mutations), common variable immunodeficiency (CVID; TACI mutations), tumor necrosis factor receptor associated periodic syndrome (TRAPS; TNFR1 mutations) and hypohidrotic ectodermal dysplasia (HED; EDA1/EDAR mutations). 21724465 2011
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		0.700 Biomarker disease BEFREE Recently, several mutations in genes encoding for molecules (CD19, TACI, ICOS) involved in B cell survival and isotype switch have been identified in patients with CVID. 17173844 2007
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		0.700 GeneticVariation disease BEFREE B lymphocyte subpopulations, previously defined classification schemes (Freiburg, Paris, EuroClass), TNFRSF13B (TACI), TNFRSF13C (BAFF-R), TNFSF13 (APRIL) gene mutations, CTLA-4 and ICOS gene polymorphisms were analyzed in 25 common variable immunodeficiency (CVID) patients and 25 healthy controls. 22699762 2012
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		0.700 GeneticVariation disease BEFREE TNFRSF13B, the gene which encodes transmembrane activator and calcium-modulator and cyclophilin ligand interactor (TACI), is mutated in nearly 10% of patients with common variable immune deficiency (CVID), an antibody deficiency syndrome characterized by loss of memory B cells and plasma cells. 18978466 2008
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		0.700 GeneticVariation disease BEFREE TNFRSF13B, which encodes transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI), is mutated in 10% of patients with common variable immunodeficiency. 20889194 2010
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		0.700 GeneticVariation disease BEFREE This also confirms the previous suggestion that TNFRSF13B defects alone do not cause CVID and that such an extremely heterogeneous immunodeficiency might be more likely related to additional, still unknown environmental and genetic factors. 19494827 2009
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		0.700 GeneticVariation disease BEFREE The candidate gene approach has led to the detection of associations between common variable immunodeficiency (CVID) and mutations in the genes TACI, ICOS, BAFF-R, CD19, CD20, and CD81. 21905497 2011
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		0.700 GeneticVariation disease BEFREE One of the 2 most common TACI mutations in CVID, A181E, introduces a negative charge into the transmembrane domain. 19605846 2009
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		0.700 GeneticVariation disease BEFREE Mutations in the gene encoding TACI (TNFRSF13B) were previously found to be associated with CVID. 22076597 2012
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		0.700 Biomarker disease BEFREE Viruses and bacteria in bronchoalveolar lavage fluids, protected specimen brush samples, and bronchial biopsies from 14 patients with primary hypogammaglobulinemia (11 patients with common variable immunodeficiency [CVID] and three patients with X-linked agammaglobulinemia [XLA]) were analyzed. 10194166 1999
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		0.700 Biomarker disease BEFREE Heterozygous deleterious mutations in the gene encoding the tumor necrosis factor receptor superfamily member 13b (TNFRSF13B), or transmembrane activator and CAML interactor (TACI), have been associated with the development of common variable immunodeficiency. 21514638 2011
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		0.700 GeneticVariation disease BEFREE This work demonstrates that TACI preassembles as an oligomeric complex prior to ligand binding and provides a mechanistic insight into how the heterozygous C104R TACI mutation can potentially lead to CVID. 17492055 2007
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		0.700 GeneticVariation disease BEFREE Recently, patients with CVID and IGAD have been found to have mutations of the gene TNFRSF13B encoding the TACI (transmembrane activator and calcium-modulator and cyclophilin-ligand interactor), a member of the tumor necrosis factor-receptor superfamily. 16899196 2006
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.450 AlteredExpression disease BEFREE The aim of this study was to further characterize the role of TACI expression in MM DESIGN AND METHODS: Using gene expression profiling, we investigated whether these patterns are kept in TACI+ or TACI- HMCL. 17550853 2007
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.450 GeneticVariation disease BEFREE FISH analyses of these patients identified one MM carrying a 3.8 Mb amplified region and two MMs with gains specifically involving the TACI locus. 17823926 2007
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.450 Biomarker disease BEFREE This set makes it possible to efficiently classify TACI(hi) and TACI(lo) MMCs in an independent cohort of 40 patients. 15827134 2005
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.450 Biomarker disease BEFREE Taken together, these results define novel APRIL actions via TACI on Tregs and Bregs to promote MM cell survival, providing the rationale for targeting APRIL/TACI system to alleviate the immunosuppressive BM milieu and improve patient outcome in MM. 30135465 2019
CUI: C2936664
Disease: Acquired Hypogammaglobulinemia
Acquired Hypogammaglobulinemia 		0.400 GeneticVariation disease BEFREE Novel mutations in TACI (TNFRSF13B) causing common variable immunodeficiency. 19629655 2009
CUI: C2936664
Disease: Acquired Hypogammaglobulinemia
Acquired Hypogammaglobulinemia 		0.400 GeneticVariation disease BEFREE Using a candidate gene approach, we identified homozygous and heterozygous mutations in TNFRSF13B, encoding TACI, in 13 individuals with common variable immunodeficiency. 16007087 2005
CUI: C2936664
Disease: Acquired Hypogammaglobulinemia
Acquired Hypogammaglobulinemia 		0.400 Biomarker disease BEFREE TACI (transmembrane activator and calcium modulator and cyclophilin ligand interactor) mutations seem to be associated with autoimmunity and common variable immunodeficiency in humans. 21850030 2012
CUI: C2936664
Disease: Acquired Hypogammaglobulinemia
Acquired Hypogammaglobulinemia 		0.400 GeneticVariation disease BEFREE TACI is mutant in common variable immunodeficiency and IgA deficiency. 16007086 2005