Annotation Detail

Information
Associated Genes
SF3B1
Associated Variants
SF3B1 MUTATION
SF3B1 MUTATION
Associated Disease
uveal melanoma
Source Database
DisGeNET
Description
SF3B1 missense mutations were found in the two UMs with no BAP1 mutations.
Pubmed
25361747
Section of the abstract supporting the evidence
RESULTS
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,CTD_human
DisGENET score for the Gene Disease association
0.122442976848723
Drugs