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+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 ) - Associated Disease
- Colorectal cancer metastatic
- Source Database
- DisGeNET
- Description
- Genotyping of the UGT1A1*28, UGT1A7 N129K/R131K, and UGT1A7-57T/G variants was done in 105 irinotecan-treated patients with metastatic colorectal cancer; adverse events were documented during all 297 treatment cycles and analyzed by Cochran-Mantel-Haenszel, Mann-Whitney, and chi2 tests.
- Pubmed
- 18349289
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2008
Drugs