Disease: Combined immunodeficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		0.320 GeneticVariation disease BEFREE Unlike patients with biallelic mutations in CARD11 causing severe CID, the R30W defect results in a less profound yet prominent susceptibility to infections, as well as multiorgan atopy and autoimmunity. 28826773 2018
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		0.320 Biomarker disease GENOMICS_ENGLAND Germline CARD11 Mutation in a Patient with Severe Congenital B Cell Lymphocytosis. 25352053 2015
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		0.320 Biomarker disease BEFREE We sought to identify the genetic alteration in a patient with combined immunodeficiency and characterize human caspase recruitment domain family, member 11 (CARD11), deficiency. 23374270 2013