Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1836032
Disease: Immunoglobulin a deficiency 2
Immunoglobulin a deficiency 2
0.700 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: C1836032
Disease: Immunoglobulin a deficiency 2
Immunoglobulin a deficiency 2
0.700 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: C1836032
Disease: Immunoglobulin a deficiency 2
Immunoglobulin a deficiency 2
0.700 GeneticVariation disease UNIPROT TACI is mutant in common variable immunodeficiency and IgA deficiency. 16007086 2005
CUI: C1836032
Disease: Immunoglobulin a deficiency 2
Immunoglobulin a deficiency 2
0.700 Biomarker disease CTD_human