Annotation Detail

Information
Associated Genes
ATM
Associated Variants
ATM MUTATION
ATM MUTATION
Associated Disease
lymphopenia
Source Database
DisGeNET
Description
Aberrant TCRδ rearrangement underlies the T-cell lymphocytopenia and t(12;14) translocation associated with ATM deficiency.
Pubmed
25721125
Section of the abstract supporting the evidence
TITLE
Number of the section of the abstract supporting the evidence
0
Number of the sentence supporting the evidence
0
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Drugs