Annotation Detail

Information
Associated Genes
BTK
Associated Variants
BTK MUTATION
BTK MUTATION
Associated Disease
Primary immune deficiency disorder
Source Database
DisGeNET
Description
X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disease caused by mutations in the gene coding for Bruton's tyrosine kinase (BTK).
Pubmed
25638286
Section of the abstract supporting the evidence
ALL_TEXT_1/3
Number of the section of the abstract supporting the evidence
1
Number of the sentence supporting the evidence
1
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00271441872080303
Drugs