Annotation Detail

Information
Associated Genes
ASXL1
Associated Variants
ASXL1 MUTATION
ASXL1 MUTATION
Associated Disease
Congenital chromosomal disease
Source Database
DisGeNET
Description
A 14-yr-old male was admitted to our hospital with MDS and the chromosomal abnormality 45,XY,der(5;17)(p10;q10).
Pubmed
25130056
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
0.0078718142903288
Drugs