Annotation Detail

Information
Associated Genes
TET2
Associated Variants
TET2 MUTATION
TET2 MUTATION
Associated Disease
Mastocytosis, Systemic
Source Database
DisGeNET
Description
All patients with (A)SM-AHNMD (n=12) carried 1-4 (median 3) additional mutations in 11 genes tested, most frequently TET2, SRSF2, ASXL1, CBL and EZH2.
Pubmed
25567135
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
2
Original source reporting the Gene Disease association
BeFree,GAD
DisGENET score for the Gene Disease association
0.00453856695524446
Drugs