Annotation Detail
Information
- Associated Genes
- MMP2
- Associated Variants
-
MMP2 MUTATION
MMP2 MUTATION
PLCE1 p.His1927Arg (p.H1927R) ( ENST00000371375.2, ENST00000371380.8, ENST00000371385.8, ENST00000675218.1, ENST00000688810.1, ENST00000692396.1 )
NR1H2 c.-19-103T>C ( ENST00000253727.10, ENST00000411902.6, ENST00000593926.5, ENST00000598168.5, ENST00000599105.5, ENST00000652203.1 )
MMP9 p.Arg668Gln (p.R668Q) ( ENST00000372330.3 )
MMP9 p.Arg668Pro (p.R668P) ( ENST00000372330.3 )
PLCE1 p.His1927Arg (p.H1927R) ( ENST00000371375.2, ENST00000371380.8, ENST00000371385.8, ENST00000675218.1, ENST00000688810.1, ENST00000692396.1 )
NR1H2 c.-19-103T>C ( ENST00000253727.10, ENST00000411902.6, ENST00000593926.5, ENST00000598168.5, ENST00000599105.5, ENST00000652203.1 )
MMP9 p.Arg668Gln (p.R668Q) ( ENST00000372330.3 )
MMP9 p.Arg668Pro (p.R668P) ( ENST00000372330.3 ) - Associated Disease
- Malignant neoplasm of gallbladder
- Source Database
- DisGeNET
- Description
- Multidimensional reduction analysis revealed LXR-β (rs3546355 G > A, rs2695121 T > C), MMP-2 (-1306 C > T), MMP-9 (R668Q), and PLCE1 rs2274223 A > G to be key players in GBC causation (p < 0.001, CVC = 7/10).
- Pubmed
- 24863943
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00108576748832121
- Year of publication
- 2014
Drugs