Annotation Detail

Information
Associated Genes
TIMP3
Associated Variants
rs1799750
rs1799750
rs2276109
MMP2 c.-1586C>T ( ENST00000570308.5 )
rs3918242
SYN3 c.711+64209A>G ( ENST00000358763.7 )
SYN1 c.775-9619A>C ( ENST00000295987.13, ENST00000340666.5 )
rs2276109
MMP2 c.-1586C>T ( ENST00000570308.5 )
rs3918242
SYN3 c.711+64208A>G ( ENST00000358763.7 )
SYN1 c.775-9619A>C ( ENST00000295987.13, ENST00000340666.5 )
Associated Disease
Malignant neoplasm of urinary bladder
Source Database
DisGeNET
Description
To elucidate genetic polymorphisms of the matrix metalloproteinases (MMPs) MMP1 (rs1799750), MMP2 (rs243865), MMP9 (rs3918242), MMP12 (rs2276109) and tissue inhibitors of MMPs (TIMPs) TIMP1 (rs2070584) and TIMP3 (rs9619311) genes that may be involved in susceptibility to bladder cancer (BC).
Pubmed
23819551
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00081432561624091
Year of publication
2014
Drugs