Annotation Detail
Information
- Associated Genes
- NR1I2
- Associated Variants
-
IFIH1 p.Ala946Thr (p.A946T)
(
ENST00000648433.1,
ENST00000649979.2,
ENST00000679938.1 )
TLR3 p.Leu412Val (p.L412V) ( ENST00000296795.8, ENST00000504367.1, ENST00000508051.2, ENST00000512264.1, ENST00000698351.1, ENST00000698354.1 )
TLR3 p.Leu412Phe (p.L412F) ( ENST00000296795.8, ENST00000504367.1, ENST00000508051.2, ENST00000512264.1, ENST00000698351.1, ENST00000698354.1 )
ENSG00000288684 c.-45+24626C>T, RIGI p.Arg7Cys (p.R7C) ( ENST00000379883.3, ENST00000679859.1, ENST00000715270.1, ENST00000715271.1 )
IFIH1 p.Ala946Thr (p.A946T) ( ENST00000648433.1, ENST00000649979.2, ENST00000679938.1 )
TLR3 p.Leu412Val (p.L412V) ( ENST00000296795.8, ENST00000504367.1, ENST00000508051.2, ENST00000512264.1, ENST00000698351.1, ENST00000698354.1 )
TLR3 p.Leu412Phe (p.L412F) ( ENST00000296795.8, ENST00000504367.1, ENST00000508051.2, ENST00000512264.1, ENST00000698351.1, ENST00000698354.1 )
ENSG00000288684 c.-45+24626C>T, RIGI p.Arg7Cys (p.R7C) ( ENST00000379883.3, ENST00000679859.1, ENST00000715270.1, ENST00000715271.1 ) - Associated Disease
- melanoma
- Source Database
- DisGeNET
- Description
- We investigated the association of polymorphisms in three pattern recognition receptor (PRR) genes-toll-like receptor 3 (TLR3) (rs3775291), retinoic acid-inducible gene I (RIG-I) (rs10813831) and melanoma differentiation-associated gene 5 (MDA5) (rs1990760)-with the severity of EV71 infection.
- Pubmed
- 24621100
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00162865123248182
- Year of publication
- 2014
Drugs