BLNK, B cell linker, 29760

N. diseases: 80; N. variants: 2
Disease: Agammaglobulinemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia 		0.610 GeneticVariation disease BEFREE We present two siblings with a homozygous deleterious frameshift mutation in BLNK, resulting in a block of B cell development in the bone marrow at the preB1 to preB2 stage, absence of circulating B cells and agammaglobulinemia. 25893637 2015
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia 		0.610 Biomarker disease GENOMICS_ENGLAND Enteroviral Infection in a Patient with BLNK Adaptor Protein Deficiency. 25893637 2015
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia 		0.610 Biomarker disease CTD_human
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia 		0.610 Biomarker disease HPO