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
- Malignant neoplasm of liver
- Source Database
- DisGeNET
- Description
- UGT1A7 polymorphisms were present in 93.2% of hepatocellular cancer patients, 74.5% carried the UGT1A7*3 allele (P < 0.001; OR, 10.76; 95% CI, 4.75-24.38), which combines the W208R, N129K, and R131K mutations and encodes a protein with low carcinogen detoxification activity.
- Pubmed
- 11677206
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00500550582928437
- Year of publication
- 2001
Drugs