Annotation Detail
Information
- Associated Genes
- UGT1A7
- Associated Variants
-
UGT1A9 c.855+9539_855+9540delinsAA, UGT1A7 p.Arg131Lys (p.R131K), UGT1A8 c.855+63766_855+63767delinsAA, UGT1A10 c.855+44951_855+44952delinsAA
(
ENST00000344644.10,
ENST00000373445.1,
ENST00000373450.5,
ENST00000373426.4,
ENST00000354728.5 )
UGT1A9 c.855+9539_855+9540delinsAA, UGT1A7 p.Arg131Lys (p.R131K), UGT1A8 c.855+63766_855+63767delinsAA, UGT1A10 c.855+44951_855+44952delinsAA ( ENST00000344644.10, ENST00000373445.1, ENST00000373450.5, ENST00000373426.4, ENST00000354728.5 )
UGT1A9 c.855+9535T>G, UGT1A7 p.Asn129Lys (p.N129K), UGT1A8 c.855+63762T>G, UGT1A10 c.855+44947T>G ( ENST00000344644.10, ENST00000373445.1, ENST00000373450.5, ENST00000373426.4, ENST00000354728.5 )
UGT1A9 c.855+9770T>C, UGT1A7 p.Trp208Arg (p.W208R), UGT1A8 c.855+63997T>C, UGT1A10 c.855+45182T>C ( ENST00000344644.10, ENST00000373445.1, ENST00000373450.5, ENST00000373426.4, ENST00000354728.5 )
UGT1A9 c.855+9535T>G, UGT1A7 p.Asn129Lys (p.N129K), UGT1A8 c.855+63762T>G, UGT1A10 c.855+44947T>G ( ENST00000344644.10, ENST00000373445.1, ENST00000373450.5, ENST00000373426.4, ENST00000354728.5 )
UGT1A9 c.855+9770T>C, UGT1A7 p.Trp208Arg (p.W208R), UGT1A8 c.855+63997T>C, UGT1A10 c.855+45182T>C ( ENST00000344644.10, ENST00000373445.1, ENST00000373450.5, ENST00000373426.4, ENST00000354728.5 ) - Associated Disease
- Adenocarcinoma of pancreas
- Source Database
- DisGeNET
- Description
- Pancreatic adenocarcinoma was associated with the low detoxification activity UGT1A7*3 allele, which combines the W208R, N129K, and R131K mutations (odds ratio [OR], 1.98; 95% confidence interval [CI ], 1.24-3.14; P = 0.003).
- Pubmed
- 12806614
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2003
Drugs