Annotation Detail

Information
Associated Genes
KMT2A
Associated Variants
KMT2A MUTATION
KMT2A MUTATION
Associated Disease
Congenital chromosomal disease
Source Database
DisGeNET
Description
Amplification of c-MYC, MLL and RUNX1 genes by means of fluorescence in situ hybridization (FISH) was found in 35% (7 out of 20) of AML and MDS patients with +8, +11 u +21 as single CA in their karyotype; in 63.6% of pts (7 out of 11)--with additional numerical or structural CA and in 75% (9 out of 12)--with complex karyotype.
Pubmed
26214902
Section of the abstract supporting the evidence
ALL_TEXT_2/3
Number of the section of the abstract supporting the evidence
2
Number of the sentence supporting the evidence
4
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00922902365073031
Drugs