Annotation Detail

Information
Associated Genes
SF3B2
Associated Variants
SF3B2 MUTATION
SF3B2 MUTATION
Associated Disease
Iron Overload
Source Database
DisGeNET
Description
Our studies suggest that SF3B1 mutations contribute to cellular iron overload in RARS/-T by deregulating SLC25A37.
Pubmed
24854990
Section of the abstract supporting the evidence
ALL_TEXT_3/3
Number of the section of the abstract supporting the evidence
3
Number of the sentence supporting the evidence
10
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Drugs