Annotation Detail
Information
- Associated Genes
- TGFB1
- Associated Variants
-
TGFB1 MUTATION
TGFB1 MUTATION
TGFB1 p.Arg25Pro (p.R25P) ( ENST00000221930.6, ENST00000600196.2, ENST00000677934.1, ENST00000539627.5 )
AGT c.-156+138C>T ( ENST00000681514.1, ENST00000680041.1, ENST00000679957.1, ENST00000366667.6, ENST00000680783.1, ENST00000681269.1, ENST00000679684.1 )
MMP3 SNV
TGFB1 p.Arg25Pro (p.R25P) ( ENST00000221930.6, ENST00000600196.2, ENST00000677934.1, ENST00000539627.5 )
AGT c.-156+138C>T ( ENST00000366667.6, ENST00000679684.1, ENST00000679957.1, ENST00000680041.1, ENST00000680783.1, ENST00000681269.1, ENST00000681514.1 )
MMP3 SNV
MMP1 UNKNOWN
MMP1 UNKNOWN
MMP1 UNKNOWN
MMP1 UNKNOWN - Associated Disease
- Hepatitis C, Chronic
- Source Database
- DisGeNET
- Description
- The aim of this work was to establish an association between the single-nucleotide polymorphisms (SNPs) of TGFB1 (rs1800471), AT (rs3789679), MMP-1 (rs17886084), MMP-3 (rs35068180), and PAI-1 (rs1799889) and the histological grading of necroinflammation, staging of hepatic fibrosis, and liver function in Mexican patients with advanced liver fibrosis due to chronic hepatitis C virus infection.
- Pubmed
- 23941979
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.035667300940936
- Year of publication
- 2014
Drugs