Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150354
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		0.600 Biomarker disease GENOMICS_ENGLAND Epistatic interactions between mutations of TACI (TNFRSF13B) and TCF3 result in a severe primary immunodeficiency disorder and systemic lupus erythematosus. 29114388 2017
CUI: C3150354
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		0.600 GeneticVariation disease CLINVAR Clinical Associations of Biallelic and Monoallelic TNFRSF13B Variants in Italian Primary Antibody Deficiency Syndromes. 27123465 2016
CUI: C3150354
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		0.600 CausalMutation disease CLINVAR Clinical Associations of Biallelic and Monoallelic TNFRSF13B Variants in Italian Primary Antibody Deficiency Syndromes. 27123465 2016
CUI: C3150354
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		0.600 CausalMutation disease CLINVAR TNF receptor superfamily member 13b (TNFRSF13B) hemizygosity reveals transmembrane activator and CAML interactor haploinsufficiency at later stages of B-cell development. 26100089 2015
CUI: C3150354
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		0.600 CausalMutation disease CLINVAR Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations. 26046366 2015
CUI: C3150354
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		0.600 CausalMutation disease CLINVAR TACI mutations and impaired B-cell function in subjects with CVID and healthy heterozygotes. 23237420 2013
CUI: C3150354
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		0.600 GeneticVariation disease CLINVAR CVID-associated TACI mutations affect autoreactive B cell selection and activation. 24051380 2013
CUI: C3150354
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		0.600 GeneticVariation disease CLINVAR TACI mutations and impaired B-cell function in subjects with CVID and healthy heterozygotes. 23237420 2013
CUI: C3150354
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		0.600 GeneticVariation disease CLINVAR Clinical variability of family members with the C104R mutation in transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI). 22983507 2013
CUI: C3150354
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		0.600 CausalMutation disease CLINVAR Sequence variants of the TNFRSF13B gene in Czech CVID and IgAD patients in the context of other populations. 22884984 2012
CUI: C3150354
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		0.600 GeneticVariation disease CLINVAR The impact of TACI mutations: from hypogammaglobulinemia in infancy to autoimmunity in adulthood. 22697072 2012
CUI: C3150354
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		0.600 GeneticVariation disease CLINVAR Sequence variants of the TNFRSF13B gene in Czech CVID and IgAD patients in the context of other populations. 22884984 2012
CUI: C3150354
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		0.600 GeneticVariation disease CLINVAR Functional analysis of transmembrane activator and calcium-modulating cyclophilin ligand interactor (TACI) mutations associated with common variable immunodeficiency. 21419480 2011
CUI: C3150354
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		0.600 GeneticVariation disease CLINVAR The C76R transmembrane activator and calcium modulator cyclophilin ligand interactor mutation disrupts antibody production and B-cell homeostasis in heterozygous and homozygous mice. 21458042 2011
CUI: C3150354
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		0.600 GeneticVariation disease CLINVAR Phenotypic and clinical heterogeneity associated with monoallelic TNFRSF13B-A181E mutations in common variable immunodeficiency. 20156508 2010
CUI: C3150354
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		0.600 GeneticVariation disease CLINVAR The C104R mutant impairs the function of transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI) through haploinsufficiency. 20889194 2010
CUI: C3150354
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		0.600 CausalMutation disease CLINVAR Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes. 18981294 2009
CUI: C3150354
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		0.600 GeneticVariation disease CLINVAR The murine equivalent of the A181E TACI mutation associated with common variable immunodeficiency severely impairs B-cell function. 19605846 2009
CUI: C3150354
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		0.600 GeneticVariation disease CLINVAR Role of TNFRSF13B variants in patients with common variable immunodeficiency. 19779048 2009
CUI: C3150354
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		0.600 GeneticVariation disease CLINVAR Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency. 17392797 2007
CUI: C3150354
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		0.600 CausalMutation disease CLINVAR Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency. 17392798 2007
CUI: C3150354
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		0.600 GeneticVariation disease CLINVAR TACI is mutant in common variable immunodeficiency and IgA deficiency. 16007086 2005
CUI: C3150354
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		0.600 Biomarker disease GENOMICS_ENGLAND TACI is mutant in common variable immunodeficiency and IgA deficiency. 16007086 2005
CUI: C3150354
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		0.600 GeneticVariation disease UNIPROT TACI is mutant in common variable immunodeficiency and IgA deficiency. 16007086 2005
CUI: C3150354
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		0.600 GeneticVariation disease CLINVAR Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans. 16007087 2005