Annotation Detail

Information
Associated Genes
CYP1B1
Associated Variants
UGT1A6 p.Thr181Ala (p.T181A), UGT1A9 c.855+20756A>G, UGT1A7 c.855+10753A>G, UGT1A8 c.856-73489A>G, UGT1A10 c.855+56168A>G ( ENST00000344644.10, ENST00000373445.1, ENST00000373450.5, ENST00000373426.4, ENST00000305139.11, ENST00000373424.5, ENST00000354728.5 )
CYP1B1 p.Val432= (p.V432=) ( ENST00000490576.2, ENST00000494864.1, ENST00000610745.5, ENST00000614273.1, ENST00000714520.1 )
PON1 p.Gln192Arg (p.Q192R) ( ENST00000222381.8 )
UGT1A6 p.Thr181Ala (p.T181A), UGT1A9 c.855+20756A>G, UGT1A7 c.855+10753A>G, UGT1A8 c.856-73489A>G, UGT1A10 c.855+56168A>G ( ENST00000344644.10, ENST00000373445.1, ENST00000373450.5, ENST00000373426.4, ENST00000305139.11, ENST00000373424.5, ENST00000354728.5 )
CYP1B1 p.Leu432Val (p.L432V) ( ENST00000490576.2, ENST00000494864.1, ENST00000610745.5, ENST00000614273.1, ENST00000714520.1 )
PON1 p.Gln192Arg (p.Q192R) ( ENST00000222381.8 )
Associated Disease
asthma
Source Database
DisGeNET
Description
We found for the first time significant associations of CYP1B1 V432L (P=0.045), PON1 Q192R (P=0.039) and UGT1A6 T181A (P=0.025) gene polymorphisms with asthma susceptibility.
Pubmed
19575027
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00263847385068233
Year of publication
2009
Drugs