BTK, Bruton tyrosine kinase, 695

N. diseases: 233; N. variants: 6
Disease: Primary immune deficiency disorder ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		0.030 GeneticVariation group BEFREE X-linked agammaglobulinemia is a primary immunodeficiency disorder resulting from BTK gene mutations. 29424453 2018
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		0.030 GeneticVariation group BEFREE Mutations in the BTK gene cause X-linked agammaglobulinemia (XLA), a primary immunodeficiency with characteristically low or absent B cells and antibodies. 25680287 2015
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		0.030 GeneticVariation group BEFREE Mutations in the BTK gene cause X-linked agammaglobulinemia (XLA); a primary immunodeficiency disorder in human. 18776760 2008