BTK, Bruton tyrosine kinase, 695

N. diseases: 290; N. variants: 85
Disease: X-Linked Combined Immunodeficiency Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1279481
Disease: X-Linked Combined Immunodeficiency Diseases
X-Linked Combined Immunodeficiency Diseases 		0.030 GeneticVariation group BEFREE Mutations in the human BTK gene cause the severe immunodeficiency disease X-linked agammaglobulinemia (XLA). 11087675 2000
CUI: C1279481
Disease: X-Linked Combined Immunodeficiency Diseases
X-Linked Combined Immunodeficiency Diseases 		0.030 GeneticVariation group BEFREE Bruton's tyrosine kinase (Btk), the target of inactivating mutations in X-linked immunodeficiency diseases of mice and humans, is essential for normal B cell responsiveness. 9287186 1997
CUI: C1279481
Disease: X-Linked Combined Immunodeficiency Diseases
X-Linked Combined Immunodeficiency Diseases 		0.030 GeneticVariation group BEFREE Recently, we reported a novel mutation (Cys145-->STOP) in Bruton's tyrosine kinase in a 51-year-old man who was referred for evaluation because of chronic nasal congestion, recurrent sinusitis, sporadic pneumonia, and a family history suggestive of an X-linked immunodeficiency disease. 9389302 1997