BTK, Bruton tyrosine kinase, 695

N. diseases: 233; N. variants: 6
Disease: Neutropenia ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.120 GeneticVariation disease BEFREE Responses were received from 87 (86%) of 101 patients in which BTK mutations were previously identified, and of these, 16 (18%) had neutropenia. 16160918 2005
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.120 Biomarker disease BEFREE Although neutropenia was not associated with any specific mutation in Btk, most of the alterations in this gene in the patients with XLA and neutropenia resulted in the absence of Btk protein or in amino acid substitutions in sites thought to be critical to Btk function. 8938104 1996