Annotation Detail

Information
Associated Genes
CD34
Associated Variants
CD34 MUTATION
CD34 MUTATION
Associated Disease
Miller Dieker syndrome
Source Database
DisGeNET
Description
MDS is a disorder of the hematopoietic stem cell and we thus studied the transcriptome of CD34(+) cells from MDS patients with SF3B1 mutations using RNA sequencing.
Pubmed
25428262
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
3
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00162865123248182
Drugs