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 gastrointestinal tract
- Source Database
- DisGeNET
- Description
- However, the UGT1A7*3 allele combining W208R, N129K and R131K missense mutations and exhibiting substantially reduced carcinogen detoxification activity was significantly associated with proximal gastrointestinal cancer and identified as a risk allele present in 32 % of cancer patients and 19 % of controls (P = 0.0008, OR 2,02 (95 %-CI 1.33-3.07)).
- Pubmed
- 12122597
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2002
Drugs